TÍTULO / TITLE: - Plasma beta amyloid and the risk of Alzheimer’s disease in Down syndrome.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Neurobiol Aging. 2011 Sep 27.
AUTORES / AUTHORS:
- Coppus AM; Schuur M; Vergeer J; Janssens AC; Oostra BA; Verbeek MM; van Duijn CM
INSTITUCIÓN / INSTITUTION:
- Dichterbij, Center for the Intellectually Disabled, Gennep, The Netherlands; Department of Epidemiology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
RESUMEN / SUMMARY:
- Extracellular deposition of amyloid beta peptide (Abeta) has been implicated as a critical step in the pathogenesis of Alzheimer’s disease (AD). In Down syndrome (DS), Alzheimer’s disease is assumed to be caused by the triplication and overexpression of the gene for amyloid precursor protein (APP), located on chromosome 21. Plasma concentrations of Abeta1-40 and Abeta1-42 were determined in a population based study of 506 persons with DS, who were screened annually for dementia. We used Cox proportional hazards models to determine the risk of dementia. Demented persons with DS have a significantly higher plasma Abeta1-40 concentration than the nondemented (p = 0.05). Those with the highest concentrations of Abeta1-40 and Abeta1-42 have a higher risk to develop dementia. The risk to develop dementia during follow-up (mean 4.7 years) increased to 2.56 (95% confidence interval, 1.39-4.71) for Abeta1-42 and 2.16 (95% confidence interval, 1.14-4.10) for Abeta1-40. High plasma concentration of plasma Abeta1-40 and Abeta1-42 are determinants of the risk of dementia in persons with DS.
TÍTULO / TITLE:
- TDP-43 pathological changes in early onset familial and sporadic Alzheimer’s disease, late onset Alzheimer’s disease and Down’s Syndrome: association with age, hippocampal sclerosis and clinical pheno
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Acta Neuropathol. 2011 Dec;122(6):703-13. Epub 2011 Oct 4.
AUTORES / AUTHORS:
- Davidson YS; Raby S; Foulds PG; Robinson A; Thompson JC; Sikkink S; Yusuf I; Amin H; Duplessis D; Troakes C; Al-Sarraj S; Sloan C; Esiri MM; Prasher V
INSTITUCIÓN / INSTITUTION:
- Mental Health and Neurodegeneration Research Group, Faculty of Medical and Human Sciences, Salford Royal Foundation Trust, University of Manchester, Stott Lane, Salford, M6 8HD, UK.
RESUMEN / SUMMARY:
- TDP-43 immunoreactive (TDP-43-ir) pathological changes were investigated in the temporal cortex and hippocampus of 11 patients with autosomal dominant familial forms of Alzheimer’s disease (FAD), 169 patients with sporadic AD [85 with early onset disease (EOAD) (i.e before 65 years of age), and 84 with late onset after this age (LOAD)], 50 individuals with Down’s Syndrome (DS) and 5 patients with primary hippocampal sclerosis (HS). TDP-43-ir pathological changes were present, overall, in 34/180 of AD cases. They were present in 1/11 (9%) FAD, and 9/85 (10%) EOAD patients but were significantly more common (p = 0.003) in LOAD where 24/84 (29%) patients showed such changes. There were no demographic differences, other than onset age, between AD patients with or without TDP-43-ir pathological changes. Double immunolabelling indicated that these TDP-43-ir inclusions were frequently ubiquitinated, but were only rarely AT8 (tau) immunoreactive. Only 3 elderly DS individuals and 4/5 cases of primary HS showed similar changes. Overall, 21.7% of AD cases and 6% DS cases showed hippocampal sclerosis (HS). However, only 9% FAD cases and 16% EOAD cases showed HS, but 29% LOAD cases showed HS. The proportion of EOAD cases with both TDP-43 pathology and HS tended to be greater than those in LOAD, where nearly half of all the cases with TDP-43 pathology did not show HS. The presence of TDP-43-ir changes in AD and DS may therefore be a secondary phenomenon, relating more to ageing than to AD itself. Nevertheless, a challenge to such an interpretation comes from the finding in AD of a strong relationship between TDP-43 pathology and cognitive phenotype. Patients with TDP-43 pathology were significantly more likely to present with an amnestic syndrome than those without (p < 0.0001), in keeping with pathological changes in medial temporal lobe structures. HS was also associated more commonly with an amnestic presentation (p < 0.005), but this association disappeared when TDP-43-positive cases were excluded from the analysis. TDP-43 may, after all, be integral to the pathology of AD, and to some extent determine the clinical phenotype present.
TÍTULO / TITLE:
- Variants in CYP17 and CYP19 Cytochrome P450 Genes are Associated with Onset of Alzheimer’s Disease in Women with Down Syndrome.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- J Alzheimers Dis. 2011 Nov 4.
AUTORES / AUTHORS:
- Chace C; Pang D; Weng C; Temkin A; Lax S; Silverman W; Zigman W; Ferin M; Lee JH; Tycko B; Schupf N
INSTITUCIÓN / INSTITUTION:
- The Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University Medical Center, New York, NY, USA Department of Epidemiology, Columbia University Medical Center, New York, NY, USA.
RESUMEN / SUMMARY:
- CYP17 and CYP19 are involved in the peripheral synthesis of estrogens, and polymorphisms in CYP17 and CYP19 have been associated with increased risk of estrogen-related disorders. Women with Down syndrome (DS) have early onset and high risk for Alzheimer’s disease (AD). We conducted a prospective community-based cohort study to examine the relationship between SNPs in CYP17 and CYP19 and cumulative incidence of AD, hormone levels and sex hormone binding globulin in women with DS. Two hundred and thirty-five women with DS, 31 to 67 years of age and nondemented at initial examination, were assessed for cognitive and functional abilities, behavioral/psychiatric conditions, and health status at 14-20 month intervals over five assessment cycles. We genotyped these individuals for single-nucleotide polymorphisms (SNPs) in CYP17 and CYP19. Four SNPs in CYP17 were associated with a two and one half-fold increased risk of AD, independent of APOE genotype. Four SNPs in CYP19 were associated with a two-fold increased risk of AD, although three were significant only in those without an APOE epsilon4 allele. Further, carrying high risk alleles in both CYP17 and CYP19 was associated with an almost four-fold increased risk of AD (OR = 3.8, 95% CI, 1.6-9.5) and elevated sex hormone binding globulin in postmenopausal women. The main effect of the CYP17 and CYP19 variants was to decrease the age at onset. These findings suggest that genes contributing to estrogen bioavailability influence risk of AD in women with DS.
TÍTULO / TITLE:
- Hippocampal network alterations in Alzheimer’s disease and Down syndrome: from structure to therapy.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- J Alzheimers Dis. 2011;26 Suppl 3:29-47.
AUTORES / AUTHORS:
- Sanchez MM; Moghadam S; Naik P; Martin KJ; Salehi A
INSTITUCIÓN / INSTITUTION:
- Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, VA Palo Alto Health Care System, 3801 Miranda Ave, 151Y, Palo Alto, CA 94304, USA.
marnemill3@gmail.com
RESUMEN / SUMMARY:
- Hippocampal structural and functional alterations in Alzheimer’s disease (AD), detected by advanced imaging methods, have been linked to significant abnormalities in multiple internal and external networks in this critical brain region. Uncovering the temporal and anatomical pattern of these network alterations would provide important clues into understanding the pathophysiology of AD and suggest new therapeutic strategies for this multi-system and prevalent disorder. Over the last decade, we have focused on studying brain structures that provide major projections to the hippocampus (HC) and the pattern of de-afferentation of this area in mouse models of AD and a related neurodegenerative disorder, i.e. Down syndrome (DS). Our studies have revealed that major inputs into the hippocampal structure undergo significant age-dependent alterations. Studying locus coeruleus (LC), the sole source of noradrenergic terminals for the HC, it has been shown that these neurons show significant age-dependent degeneration in both mouse models of DS and AD. Furthermore, increasing noradrenergic signaling was able to restore cognitive function by improving synaptic plasticity, and possibly promoting microglia recruitment, and amyloid beta (Abeta) clearance in transgenic (tg) mouse models of AD. Here, we re-examine the effects of alterations in major inputs to the hippocampal region and their structural and functional consequences in mouse models of neurodegenerative disorders. We will conclude that improving the function of major hippocampal inputs could lead to a significant improvement in cognitive function in both AD and DS.
TÍTULO / TITLE:
- Association between frontal cortex oxidative damage and beta-amyloid as a function of age in Down syndrome.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Biochim Biophys Acta. 2011 Oct 8.
AUTORES / AUTHORS:
- Cenini G; Dowling AL; Beckett TL; Barone E; Mancuso C; Murphy MP; Levine H 3rd; Lott IT; Schmitt FA; Butterfield DA; Head E
INSTITUCIÓN / INSTITUTION:
- Department of Chemistry, Center of Membrane Sciences, and Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY 40536-0055, USA.
RESUMEN / SUMMARY:
- Down syndrome (DS) is the most common genetic cause of intellectual disability in children, and the number of adults with DS reaching old age is increasing. By the age of 40years, virtually all people with DS have sufficient neuropathology for a postmortem diagnosis of Alzheimer disease (AD). Trisomy 21 in DS leads to an overexpression of many proteins, of which at least two are involved in oxidative stress and AD: superoxide dismutase 1 (SOD1) and amyloid precursor protein (APP). In this study, we tested the hypothesis that DS brains with neuropathological hallmarks of AD have more oxidative and nitrosative stress than those with DS but without significant AD pathology, as compared with similarly aged-matched non-DS controls. The frontal cortex was examined in 70 autopsy cases (n=29 control and n=41 DS). By ELISA, we quantified soluble and insoluble Abeta40 and Abeta42, as well as oligomers. Oxidative and nitrosative stress levels (protein carbonyls, 4-hydroxy-2-trans-nonenal (HNE)-bound proteins, and 3-nitrotyrosine) were measured by slot-blot. We found that soluble and insoluble amyloid beta peptide (Abeta) and oligomers increase as a function of age in DS frontal cortex. Of the oxidative stress markers, HNE-bound proteins were increased overall in DS. Protein carbonyls were correlated with Abeta40 levels. These results suggest that oxidative damage, but not nitrosative stress, may contribute to the onset and progression of AD pathogenesis in DS. Conceivably, treatment with antioxidants may provide a point of intervention to slow pathological alterations in DS.
TÍTULO / TITLE:
- Positron Emission Tomography and Neuropathologic Estimates of Fibrillar Amyloid-beta in a Patient With Down Syndrome and Alzheimer Disease.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Arch Neurol. 2011 Nov;68(11):1461-6.
AUTORES / AUTHORS:
- Sabbagh MN; Fleisher A; Chen K; Rogers J; Berk C; Reiman E; Pontecorvo M; Mintun M; Skovronsky D; Jacobson SA; Sue LI; Liebsack C; Charney AS; Cole L;
INSTITUCIÓN / INSTITUTION:
- The Cleo Roberts Center for Clinical Research, Banner Sun Health Research Institute, 101515 W Santa Fe Dr, Sun City, AZ 85351
marwan.sabbagh@bannerhealth.com
RESUMEN / SUMMARY:
- BACKGROUND: Down syndrome appears to be associated with a virtually certain risk of fibrillar amyloid-beta (Abeta) pathology by the age of 40 and a very high risk of dementia at older ages. The positron emission tomography (PET) ligand florbetapir F18 has been shown to characterize fibrillar Abeta in the living human brain and to provide a close correlation with subsequent Abeta neuropathology in individuals proximate to and after the end of life. The extent to which the most frequently used PET ligands can be used to detect fibrillar Abeta in patients with Down syndrome remains to be determined. OBJECTIVES: To characterize PET estimates of fibrillar Abeta burden in a Down syndrome patient very close to the end of life and to compare them with neuropathologic assessment made after his death. Design/ METHODS: With the family’s informed consent, florbetapir PET was used to study a 55-year-old Down syndrome patient with Alzheimer disease near the end of life; his brain was donated for neuropathologic assessment when he died 14 days later. Visual ratings of cerebral florbetapir uptake were performed by trained readers who were masked to the patient’s diagnosis as part of a larger study, and an automated algorithm was used to characterize regional-to-cerebellar standard uptake value ratios in 6 cerebral regions of interest. Neuropathologic assessments were performed masked to the patient’s diagnosis or PET measurements. RESULTS: Visual ratings and automated analyses of the PET image revealed a heavy fibrillar Abeta burden in cortical, striatal, and thalamic regions, similar to that reported for patients with late-onset Alzheimer disease. This matched neuropathologic findings of frequent neuritic and diffuse plaques, as well as frequent amyloid angiopathy, except for neuropathologically demonstrated frequent cerebellar diffuse plaques and amyloid angiopathy that were not detected by the PET scan. CONCLUSIONS: Florbetapir PET can be used to detect increased cerebral-to-cerebellar fibrillar Abeta burden in a Down syndrome patient with Alzheimer disease, even in the presence of frequent amyloid angiopathy and diffuse plaques in the cerebellum. Additional studies are needed to determine the extent to which PET could be used to detect and to track fibrillar Abeta and to evaluate investigational Abeta-modifying treatments in the presymptomatic and symptomatic stages of Alzheimer disease.
TÍTULO / TITLE:
- Recurrent pericardial effusion associated with hypothyroidism in down syndrome:a case report.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- West Afr J Med. 2011 May-Jun;30(3):210-3.
AUTORES / AUTHORS:
- Anah MU; Ansa VO; Etiuma AU; Udoh EE; Ineji EO; Asindi AA
INSTITUCIÓN / INSTITUTION:
- Departments of Paediatrics, Medicine, Cardio-Thoracic Surgery, University of Calabar Teaching Hospital, Calabar, Nigeria.
Maxejen@yahoo.com
RESUMEN / SUMMARY:
- BACKGROUND: The complex of Down Syndrome-hypothyroidism-pericardial effusion is largely unreported in sub-Sahara. OBJECTIVE: To present and highlight an unusual manifestation of hypothyroidism. METHODS: A 16-year-old girl with confirmed Down Syndrome presented with complaints of generalised body swelling of eight months’ duration. Her work-up consisted of full clinical and laboratory evaluation including ECG and echocardiography. RESULTS: The patient was diagnosed of Down’s Syndrome at birth but was lost to follow-up after at eight years of age. Body swelling was associated with clinical features of heart failure. Echocardiography showed massive pericardial effusion. Serum l-thyroxine was less than 0.5mg/dl and TSH >40iu/l. The heart failure and menstrual irregularities responded to l-thyroxine therapy. CONCLUSION: This appears to be the first report of the complex of Down syndrome, hypothyroidism and pericardial effusion in a Nigerian child. Thyroid function test is therefore recommended as a part of baseline investigation for Nigerian children with Down syndrome as is the practice.
TÍTULO / TITLE:
- Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Birth Defects Res A Clin Mol Teratol. 2011 Oct;91(10):885-93. doi: 10.1002/bdra.22848. Epub 2011 Aug 24.
AUTORES / AUTHORS:
- H Bean LJ; Allen EG; Tinker SW; Hollis ND; Locke AE; Druschel C; Hobbs CA; O’Leary L; Romitti PA; Royle MH; Torfs CP; Dooley KJ; Freeman SB; Sherman S
INSTITUCIÓN / INSTITUTION:
- Department of Human Genetics, Emory University, Atlanta, Georgia, USA
ljbean@emory.edu
RESUMEN / SUMMARY:
- BACKGROUND: Maternal folic acid supplementation has been associated with a reduced risk for neural tube defects and may be associated with a reduced risk for congenital heart defects and other birth defects. Individuals with Down syndrome are at high risk for congenital heart defects and have been shown to have abnormal folate metabolism. METHODS: As part of the population-based case-control National Down Syndrome Project, 1011 mothers of infants with Down syndrome reported their use of supplements containing folic acid. These data were used to determine whether a lack of periconceptional maternal folic acid supplementation is associated with congenital heart defects in Down syndrome. We used logistic regression to test the relationship between maternal folic acid supplementation and the frequency of specific heart defects correcting for maternal race or ethnicity, proband sex, maternal use of alcohol and cigarettes, and maternal age at conception. RESULTS: Lack of maternal folic acid supplementation was more frequent among infants with Down syndrome and atrioventricular septal defects (odds ratio [OR], 1.69; 95% confidence interval [CI], 1.08-2.63; p = 0.011) or atrial septal defects (OR, 1.69; 95% CI, 1.11-2.58; p = 0.007) than among infants with Down syndrome and no heart defect. Preliminary evidence suggests that the patterns of association differ by race or ethnicity and sex of the proband. There was no statistically significant association with ventricular septal defects (OR, 1.26; 95% CI, 0.85-1.87; p = 0.124). CONCLUSIONS: Our results suggest that lack of maternal folic acid supplementation is associated with septal defects in infants with Down syndrome. Birth Defects Research (Part A), 2011.
TÍTULO / TITLE:
- Heart rate complexity in response to upright tilt in persons with Down syndrome.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Res Dev Disabil. 2011 Nov;32(6):2102-7. Epub 2011 Sep 15.
AUTORES / AUTHORS:
- Agiovlasitis S; Baynard T; Pitetti KH; Fernhall B
INSTITUCIÓN / INSTITUTION:
- Department of Kinesiology, Mississippi State University, 233 McCarthy Gym, PO Box 6186, Mississippi State, MS 39762, USA.
sagiovlasitis@colled.msstate.edu
RESUMEN / SUMMARY:
- People with Down syndrome (DS) show altered autonomic response to sympatho-excitation. Cardiac autonomic modulation may be examined with heart rate (HR) complexity which is associated uniquely with cardiovascular risk. This study examined whether the response of HR complexity to passive upright tilt differs between persons with and without DS and whether potential between-group differences in this response are accounted for by differences in body mass index (BMI). The electrocardiogram of 16 persons with DS (8 women, 8 men) and 16 persons without DS (8 women, 8 men) was recorded during 10 min of supine rest and 10 min of upright tilt. For each participant, 550 continuous, steady state, and ectopy-free R-R intervals under each condition were analyzed. Dependent variables were approximate entropy, correlation dimension, StatAv, and the mean R-R interval. In response to tilt, changes in approximate entropy and correlation dimension were reduced in participants with DS (p<0.05). These differences were explained by higher BMI in participants with DS. StatAv increased in persons with DS (p < 0.05) and stayed the same in those without DS even when controlling for BMI. The response of R-R interval did not differ between groups. None of the variables differed between groups at rest. Therefore, people with DS show smaller decrease in HR complexity in response to upright tilt than people without DS partially due to their higher BMI. Resting HR complexity does not differ between persons with and without DS. These results may have implications for cardiovascular risk in people with DS.
TÍTULO / TITLE:
- Remineralization of primary tooth enamel from individuals with down syndrome.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- J Dent Child (Chic). 2011;78(1):43-8.
AUTORES / AUTHORS:
- Okamoto T; Shibata M; Tsuboi S; Nakagaki H; Fukuta O; Kusabe Y; Inukai J
INSTITUCIÓN / INSTITUTION:
- Assistant lecturer, School of Dentistry, aichi-Gakuin university, Nagoya , Japan.
okataku@dpc.aichi-gakuin.ac.jp
RESUMEN / SUMMARY:
- PURPOSE: The purpose of this study was to clarify the characteristics of primary tooth enamel of Down syndrome patients (DSPs). We examined 9 primary teeth of Down syndrome children and 11 primary teeth of normally developed children to investigate the remineralization processes of enamel by transverse microradiography and X ray micro analyzer (XMA). METHODS: Mineral loss, lesion depth, maximum mineral value, minimum mineral value, depth of maximum mineral value, and depth of minimum mineral value were used to analyze transverse microradiography (TMR). In addition, we calculated the percentage of enamel remineralization. RESULTS: All the parameters in the 2 groups showed marked recovery. The results indicated that the Down syndrome group was significantly remineralized the same way as the control group. According to the comparison of mineral content distribution by XMA, the content distribution of magnesium was different between the 2 groups. CONCLUSION: While recovery through remineralization of primary teeth was similar between Down syndrome children and normally developed children, the mechanism of remineralization process may be different between the 2 groups; consequently, magnesium may be considered as one of the factors affecting recovery.
EAR/NASAL - OTORRINOLARINGOLOGÍA
TÍTULO / TITLE:
- Identification of Hearing Loss in Pediatric Patients with Down Syndrome.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Otolaryngol Head Neck Surg. 2011 Oct 10.
AUTORES / AUTHORS:
- Park AH; Wilson MA; Stevens PT; Harward R; Hohler N
INSTITUCIÓN / INSTITUTION:
- Division of Otolaryngology-Head and Neck Surgery, University of Utah, Salt Lake City, Utah, USA.
RESUMEN / SUMMARY:
- Objective. To determine the type of hearing loss, incidence of the lost to follow-up rate, and the time to diagnose sensorineural hearing loss (SNHL) in children with Down syndrome (DS) identified from a statewide database.Study Design. Case series with chart review.Setting. Pediatric referral center.Subjects and Methods. Three hundred forty-four patients with DS born in Utah between January 2002 and December 2006 were identified using the Utah Department of Health’s Newborn Hearing Screening database and birth defects registry.Results. Three hundred thirty-two patients were included in the study. Eighty-seven infants (26.2%) did not pass their newborn hearing screening (NBS). Thirty-three of these children (37.9%) had a conductive hearing loss attributed to serous otitis media. Five infants had SNHL; 3 children were diagnosed with a mixed hearing loss (MHL). The average time to diagnose a sensorineural hearing loss was 485 +/- 601 days. One child who passed his NBS was subsequently found to have an SNHL. More than 43% of the newborns with DS who passed their NBS developed a conductive hearing loss requiring insertion of ventilation tubes. Eighty-four percent of newborns with DS who did not undergo NBS did not have any apparent subsequent audiologic testing.Conclusion. Patients with DS present with a relatively high incidence of conductive hearing loss, MHL, and SNHL and a higher lost to follow-up rate compared to patients without DS. The authors were not able to diagnose SNHL within the 90-day period recommended by the Joint Committee on Infant Hearing.
ENDOCRINOLOGY/NUTRITION - ENDOCRINOLOGÍA/NUTRICIÓN
TÍTULO / TITLE:
- Recurrent pericardial effusion associated with hypothyroidism in down syndrome:a case report.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- West Afr J Med. 2011 May-Jun;30(3):210-3.
AUTORES / AUTHORS:
- Anah MU; Ansa VO; Etiuma AU; Udoh EE; Ineji EO; Asindi AA
INSTITUCIÓN / INSTITUTION:
- Departments of Paediatrics, Medicine, Cardio-Thoracic Surgery, University of Calabar Teaching Hospital, Calabar, Nigeria.
Maxejen@yahoo.com
RESUMEN / SUMMARY:
- BACKGROUND: The complex of Down Syndrome-hypothyroidism-pericardial effusion is largely unreported in sub-Sahara. OBJECTIVE: To present and highlight an unusual manifestation of hypothyroidism. METHODS: A 16-year-old girl with confirmed Down Syndrome presented with complaints of generalised body swelling of eight months’ duration. Her work-up consisted of full clinical and laboratory evaluation including ECG and echocardiography. RESULTS: The patient was diagnosed of Down’s Syndrome at birth but was lost to follow-up after at eight years of age. Body swelling was associated with clinical features of heart failure. Echocardiography showed massive pericardial effusion. Serum l-thyroxine was less than 0.5mg/dl and TSH >40iu/l. The heart failure and menstrual irregularities responded to l-thyroxine therapy. CONCLUSION: This appears to be the first report of the complex of Down syndrome, hypothyroidism and pericardial effusion in a Nigerian child. Thyroid function test is therefore recommended as a part of baseline investigation for Nigerian children with Down syndrome as is the practice.
TÍTULO / TITLE:
- Nutritional status of intellectual disabled persons with Down syndrome.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Nutr Hosp. 2011 Oct;26(5):1059-66.
AUTORES / AUTHORS:
- Soler Marin A; Xandri Graupera JM
INSTITUCIÓN / INSTITUTION:
- Departamento de Tecnologia de la Alimentacion y Nutricion, Universidad Catolica San Antonio, Murcia, España.
RESUMEN / SUMMARY:
- Background: To evaluate the nutritional status in young adults with Down syndrome (DS). Methods: 38 persons, 15 (39.5%) women and 23 (60.5%) men (age range 16-38 years) with DS. Body composition was analyzed from anthropometric parameters according to standard protocols, levels of physical activity and nutrient intake was determined using validated questionnaires: a 72 h recall and consumption food frequency questionnaire (recorded by the tutors of the participants). The following biochemical parameters were estimated: blood lipids profile (total cholesterol, HDL-cholesterol, LDL-cholesterol and triglycerides), glucose, uric acid, proteins (ferritin and transferrin), minerals (Fe, Zn, Cu, Mg and Se) and vitamins (B12, B9, E, C and beta-carotene). The data were statistically analysed with Student t tests. Results: From the 38 participants, 36.8% were overweight (BMI: 25-29.9 kg/m(2)) and 36.8% were obese (BMI >/= 30 kg/m(2)). The BMI differed from women to men (P < 0.001) (29.1 +/- 4.3 and 27.9 +/- 4.6 kg/m(2), respectively). The average values of the biochemical parameters, except for uric acid, both in women and men were within normal ranges. The average energy intake was 1,909 +/- 337 and 2,260 +/- 284 kcal/day for women and men, respectively. The contribution of proteins to total caloric intake was 18.8 and 16.3% for women and men, respectively, while carbohydrates contributed 43.3 and 45.6%, and lipids 37.9 and 38.1%. All participants were sedentary. Conclusion: In this group presented a high prevalence of overweight and obesity. Further research is required in the development and evaluation of appropriate intervention programs to improve their nutritional status and quality of life.
TÍTULO / TITLE:
- Capillary TSH screening programme for Down’s syndrome in Scotland, 1997-2009.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Arch Dis Child. 2011 Dec;96(12):1113-1117. Epub 2011 Sep 30.
AUTORES / AUTHORS:
- McGowan S; Jones J; Brown A; Reynolds L; Leyland K; Charleton P; Rahim M; Mansor M; Ritha S; Donaldson M
INSTITUCIÓN / INSTITUTION:
- Department of Child Health, Royal Hospital for Sick Children, Yorkhill, Glasgow G3 8SJ, UK
malcolm.donaldson@glasgow.ac.uk
RESUMEN / SUMMARY:
- Objectives To assess uptake of community-based capillary thyroid stimulating hormone (TSH) screening in Scotland and determine the optimal frequency of screening, the justification for preschool screening and strategies for treatment. Methods Subjects with Down’s syndrome aged 1-19 years underwent capillary TSH measurement. Clinical and biochemical data were collected using proformas. Results 5742 capillary TSH tests were performed on 1329 children in 1997-2009, increasing from 183 children from two health boards tested in 1997 to 630 from 13 health boards tested in 2009. Of 132 children referred by the screening laboratory with elevated capillary TSH, 98 (M:F ratio 1:1.2, median (range) age 8.9 (0.9-17.9) years) had adequate documentation and 76 had thyroid dysfunction (defined as venous TSH >6 mU/l), giving a prevalence of not less than 5.7%. Fifty-six (57%) had tested negative during the previous year, 8 (8%) tested positive on their first screening test and 23/67 (34%) were thyroid peroxidase autoantibody negative on initial venous blood. Two of the 13 (13%) preschool children were severely hypothyroid (venous TSH 71 and 283 mU/l). Of patients with venous TSH 6-10.9 (n=27), 11.0-20.9 (n=25) and >/=21.0 mU/l (n=24) following referral, initial/subsequent treatment with thyroxine was given in 3/8, 15/5 and 21/1, respectively. Conclusion Capillary TSH screening in Down’s syndrome is eminently feasible and should be performed annually from 1 year of age. Nearly all subjects with initial venous TSH >/=11.0 mU/l will require thyroxine treatment but most with TSH 6-10 mU/l only require surveillance initially.
TÍTULO / TITLE:
- Down syndrome presenting with multiple sclerosis, thyroid dysfunction, and diabetes mellitus.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Neurosciences (Riyadh). 2011 Oct;16(4):375-7.
AUTORES / AUTHORS:
- Nabavi SM; Hamzehloo A; Sabet Z
INSTITUCIÓN / INSTITUTION:
- MS Research Unit, Neurology Department, Shahed University of Medical Sciences, Tehran, Iran.
RESUMEN / SUMMARY:
- Down syndrome (DS) is one of the most common survivable chromosomal disorders, and is well known to be associated with multiple autoimmune diseases. Multiple sclerosis (MS) is a chronic inflammatory autoimmune demyelinating disease of the central nervous system. An association of DS and other autoimmune disease has been previously reported, and we report one case of DS in coexistence with MS, diabetes mellitus, and thyroid diseases. We suggest that MS, such as other autoimmune diseases, is prevalent in DS patients.
TÍTULO / TITLE:
- Predictors of trisomy 21 in the offspring of older and younger women.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Birth Defects Res A Clin Mol Teratol. 2011 Nov 28. doi: 10.1002/bdra.22870
AUTORES / AUTHORS:
- Agopian AJ; Marengo LK; Mitchell LE
INSTITUCIÓN / INSTITUTION:
- Center for Human Genetics, Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston, Texas.
RESUMEN / SUMMARY:
- BACKGROUND: Advanced maternal age is the only well-established risk factor for trisomy 21, yet the majority of affected individuals are born to younger women. To identify factors associated with the risk of trisomy 21 in the offspring of younger and older women, we analyzed data for cases with trisomy 21 from the Texas Birth Defects Registry for 1999 to 2007. METHODS: Data were analyzed separately for younger (i.e., <35 years of age at delivery; n = 2306) and older (i.e., >/=35 years of age at delivery; n = 1811) women using Poisson regression. RESULTS: After adjustment for maternal age and several other covariates, the prevalence of trisomy 21 in the offspring of women in both maternal age groups was higher in male than in female infants and in offspring of women who were Hispanic (compared with non-Hispanic white women) or who had at least one previous liveborn child compared to those with none. In the offspring of older women only, the prevalence of trisomy 21 was also significantly higher when the father was 20to 24 years old (compared with 25 to 29 years old; adjusted prevalence ratio [aPR], 2.27; 95% confidence interval [CI], 1.47-3.49) and Hispanic (compared with non-Hispanic white; aPR, 1.34; 95% CI, 1.13-1.58) and among women with less than a high school education (compared with greater than high school). CONCLUSIONS: This study identified several factors, in addition to maternal age, that were associated with trisomy 21 risk. In general, these factors were similar for both maternal age groups, although paternal characteristics were significantly associated with risk of trisomy 21 only in offspring of older women. Birth Defects Research (Part A), 2011. © 2011 Wiley Periodicals, Inc.
TÍTULO / TITLE:
- Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Birth Defects Res A Clin Mol Teratol. 2011 Oct;91(10):885-93. doi: 10.1002/bdra.22848. Epub 2011 Aug 24.
AUTORES / AUTHORS:
- H Bean LJ; Allen EG; Tinker SW; Hollis ND; Locke AE; Druschel C; Hobbs CA; O’Leary L; Romitti PA; Royle MH; Torfs CP; Dooley KJ; Freeman SB; Sherman S
INSTITUCIÓN / INSTITUTION:
- Department of Human Genetics, Emory University, Atlanta, Georgia, USA.
ljbean@emory.edu
RESUMEN / SUMMARY:
- BACKGROUND: Maternal folic acid supplementation has been associated with a reduced risk for neural tube defects and may be associated with a reduced risk for congenital heart defects and other birth defects. Individuals with Down syndrome are at high risk for congenital heart defects and have been shown to have abnormal folate metabolism. METHODS: As part of the population-based case-control National Down Syndrome Project, 1011 mothers of infants with Down syndrome reported their use of supplements containing folic acid. These data were used to determine whether a lack of periconceptional maternal folic acid supplementation is associated with congenital heart defects in Down syndrome. We used logistic regression to test the relationship between maternal folic acid supplementation and the frequency of specific heart defects correcting for maternal race or ethnicity, proband sex, maternal use of alcohol and cigarettes, and maternal age at conception. RESULTS: Lack of maternal folic acid supplementation was more frequent among infants with Down syndrome and atrioventricular septal defects (odds ratio [OR], 1.69; 95% confidence interval [CI], 1.08-2.63; p = 0.011) or atrial septal defects (OR, 1.69; 95% CI, 1.11-2.58; p = 0.007) than among infants with Down syndrome and no heart defect. Preliminary evidence suggests that the patterns of association differ by race or ethnicity and sex of the proband. There was no statistically significant association with ventricular septal defects (OR, 1.26; 95% CI, 0.85-1.87; p = 0.124). CONCLUSIONS: Our results suggest that lack of maternal folic acid supplementation is associated with septal defects in infants with Down syndrome. Birth Defects Research (Part A), 2011.
TÍTULO / TITLE:
- Epidemiology of down syndrome: new insight into the multidimensional interactions among genetic and environmental risk factors in the oocyte.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Am J Epidemiol. 2011 Nov 1;174(9):1009-16. Epub 2011 Sep 27.
AUTORES / AUTHORS:
- Ghosh S; Hong CS; Feingold E; Ghosh P; Ghosh P; Bhaumik P; Dey SK
INSTITUCIÓN / INSTITUTION:
- Human Genetics Research Unit, Department of Biotechnology, School of Biotechnology and Biological Sciences, West Bengal University of Technology, Salt Lake City, Kolkata, West Bengal, India.
RESUMEN / SUMMARY:
- Down syndrome birth is attributable to multiple maternal risk factors that include both genetic and environmental challenges, but there is limited understanding of the complicated interactions among these factors. In the present study, a case-control analysis of approximately 400 infants with or without suspected Down syndrome reported between 2003 and 2009 and their parents in and around Kolkata, India, was conducted. Maternal exposure to 2 environmental risk factors (smokeless chewing tobacco and oral contraceptive pills) was recorded, and families were genotyped with microsatellite markers to establish the origin of nondisjunction errors as well as recombination patterns of nondisjoined chromosome 21. With logistic regression models, the possible interactions among all of these risk factors, as well as with maternal age, were explored. Smokeless chewing tobacco was associated with significant risk for meiosis II nondisjunction and achiasmate (nonexchange) meiosis I error among young mothers. By contrast, the risk due to oral contraceptive pills was associated with older mothers. Study results suggest that the chewing tobacco risk factor operates independently of the maternal age effect, whereas contraceptive pill-related risk may interact with or exacerbate age-related risk. Moreover, both risk factors, when present together, exhibited a strong age-dependent effect.
TÍTULO / TITLE:
- RFC - 1 Gene Polymorphism and the Risk of Down Syndrome in Romanian Population.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Maedica (Buchar). 2010 Dec;5(4):280-5.
AUTORES / AUTHORS:
- Neagos D; Cretu R; Tutulan-Cunita A; Stoian V; Bohiltea LC
INSTITUCIÓN / INSTITUTION:
- “Carol Davila” University of Medicine and Pharmacy, Department of Genetics.
RESUMEN / SUMMARY:
- Background and aims: There is evidence that the polymorphisms of the genes involved in folate metabolism may be associated with higher risk of Down syndrome (DS) pregnancy. The aim of the present study was to investigate the effect of A80G polymorphism in reduced folate carrier 1 (RFC1) gene on the maternal risk for DS.Methods: In our study, twenty-two DS mothers and forty-two mothers who had no children with DS were evaluated. Genomic DNA was isolated from whole peripheral blood collected on EDTA, using peqGOLD blood DNA mini kit (ATP Biotech) following the manufacturer’s instructions.Results: The results show that the frequencies of RFC1 alleles, as well as the frequencies of RFC1 A80G genotypes (GG, GA, AA, GA+AA) do not correlate with DS pregnancies, demonstrating no difference between the case and control groups.Conclusions: In the present study, we did not find any statistically significant association between RFC-1 polymorphic genotype and history of DS pregnancies; thus, the relationship between RFC-1 polymorphism and DS appears to be only a supposition and the next step in our study is the catamnestic evaluation of our patients with DS babies for two years.
GASTROENTEROLOGY - GASTROENTEROLOGÍA
TÍTULO / TITLE:
- Rectal biopsy in children with Down syndrome and chronic constipation: Hirschsprung disease vs. non-Hirschsprung disease.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Pediatr Dev Pathol. 2011 Oct 12.
AUTORES / AUTHORS:
- Yin H; Boyd T; Pacheco MC; Schonfeld DJ; Bove KE
INSTITUCIÓN / INSTITUTION:
- a Cincinnati Children’s Hospital Medical Center, Pathology and Laboratory Medicine.
RESUMEN / SUMMARY:
- Abstract Hirschsprung disease (HD) is reported in patients with Down syndrome (DS) with a frequency between 2% and 10%. The incidence of HD is 2% in our community-based registry that contains > 700 patients with DS. We reviewed rectal biopsy findings in 32 of these patients who had suction rectal biopsy (SRB) performed between 1980 and 2009 to investigate the cause of chronic constipation. We confirmed that 15 patients had diagnostic histological and histochemical features of HD. More challenging were findings in 5/17 patients in whom ganglia co-existed with equivocal acetylcholinesterase reaction patterns and/or hypertrophic submucosal nerves. In this retrospective study, we were able to resolve most of these discrepant findings by demonstrating normal Calretinin positive nerve twigs in the lamina propria and muscularis mucosae, The clinical significance of these unexpected findings in SRB specimens that did not satisfy strict criteria for a tissue diagnosis of HD is unknown. We speculate that a minority of these patients have transition zone morphology or an incomplete/atypical form of HD. Further investigations may help resolve discrepancies that arise when SRB is used to investigate chronic constipation in DS.
TÍTULO / TITLE:
- Helicobacter pylori Seropositivity in Institutionalized Children With Down Syndrome.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Pediatr Infect Dis J. 2011 Dec;30(12):1123-4.
AUTORES / AUTHORS:
- Douraghi M; Goudarzi H; Rostami MN; Mirsamadi ES
INSTITUCIÓN / INSTITUTION:
- Department of Microbiology Shahid Beheshti University of Medical Sciences Division of Microbiology Department of Pathobiology School of Public Health Tehran University of Medical Sciences Tehran, Iran Department of Microbiology Shahid Behes
hgod500@yahoo.com
RESUMEN / SUMMARY:
-
TÍTULO / TITLE:
- RFC - 1 Gene Polymorphism and the Risk of Down Syndrome in Romanian Population.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Maedica (Buchar). 2010 Dec;5(4):280-5.
AUTORES / AUTHORS:
- Neagos D; Cretu R; Tutulan-Cunita A; Stoian V; Bohiltea LC
INSTITUCIÓN / INSTITUTION:
- “Carol Davila” University of Medicine and Pharmacy, Department of Genetics.
RESUMEN / SUMMARY:
- Background and aims: There is evidence that the polymorphisms of the genes involved in folate metabolism may be associated with higher risk of Down syndrome (DS) pregnancy. The aim of the present study was to investigate the effect of A80G polymorphism in reduced folate carrier 1 (RFC1) gene on the maternal risk for DS.Methods: In our study, twenty-two DS mothers and forty-two mothers who had no children with DS were evaluated. Genomic DNA was isolated from whole peripheral blood collected on EDTA, using peqGOLD blood DNA mini kit (ATP Biotech) following the manufacturer’s instructions.Results: The results show that the frequencies of RFC1 alleles, as well as the frequencies of RFC1 A80G genotypes (GG, GA, AA, GA+AA) do not correlate with DS pregnancies, demonstrating no difference between the case and control groups.Conclusions: In the present study, we did not find any statistically significant association between RFC-1 polymorphic genotype and history of DS pregnancies; thus, the relationship between RFC-1 polymorphism and DS appears to be only a supposition and the next step in our study is the catamnestic evaluation of our patients with DS babies for two years.
TÍTULO / TITLE:
- Genomic study of the critical region of chromosome 21 associated to Down syndrome
RESUMEN / SUMMARY:
REVISTA / JOURNAL:
- COLOMBIA MEDICA 42 (1): 26-38 JAN-MAR 2011
AUTORES / AUTHORS:
- Montoya, JC; Soto, J; Satizabal, JM; Sanchez, A; Garcia, F
RESUMEN / SUMMARY:
- Introduction: Previous reports have identified a region of chromosome 21 known as Down ayndrome critical region (DSCR) in which the expression of some genes would modulate the main clinical characteristics of this pathology. In this sense, there is currently limited information on the architecture of the DSCR associated.
Objective: To obtain in silico a detailed vision of the chromatin structure associated with the evaluation of genomic covariables contained in public data bases.
Methods: Taking as reference the information consigned in the National Center for Biotechnology Information, the Genome Browser from the University of California at Santa Cruz and from the HapMap project, a chromosome walk along 21 Mb of the distal portion of chromosome 21q arm was performed. In this distal portion, the number of single nucleotide polymorphisms (SNP), number of CpG islands, repetitive elements, recombination frequencies, and topographical state of that chromatin were recorded.
Results: The frequency of CpG islands and Ref genes increased in the more distal 1.2 Mb DSCR that contrast with those localized near to the centromere. The highest level of recombination calculated for women was registered in the 21q22.12 to 22.3 bands. DSCR 6 and 9 genes showed a high percentage of methylation in CpG islands in DNA from normal and trisomic fibroblasts. The DSCR2 gene exhibited high levels of open chromatin and also methylation in some lysine residues of the histone H3 as relevant characteristics.
Conclusion: The existence of a genomic environment characterized by high values of recombination frequencies and CpG methylation in DSCR 6 and 9 and also DSCR2 genes led us to postulate that in non-disjunction detected in Down syndrome, complex genomic, epigenetic and environmental relationships regulate some processes of meiosis.
GROWTH/DEVELOPMENT - CRECIMIENTO/DESARROLLO
TÍTULO / TITLE:
- Morphological integration of soft-tissue facial morphology in down syndrome and siblings.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Am J Phys Anthropol. 2011 Dec;146(4):560-8. doi: 10.1002/ajpa.21583. Epub 2011 Oct 14.
AUTORES / AUTHORS:
- Starbuck J; Reeves RH; Richtsmeier J
INSTITUCIÓN / INSTITUTION:
- The Pennsylvania State University-Anthropology, University Park, PA 16802.
jms1043@psu.edu
RESUMEN / SUMMARY:
- Down syndrome (DS), resulting from trisomy of chromosome 21, is the most common live-born human aneuploidy. The phenotypic expression of trisomy 21 produces variable, though characteristic, facial morphology. Although certain facial features have been documented quantitatively and qualitatively as characteristic of DS (e.g., epicanthic folds, macroglossia, and hypertelorism), all of these traits occur in other craniofacial conditions with an underlying genetic cause. We hypothesize that the typical DS face is integrated differently than the face of non-DS siblings, and that the pattern of morphological integration unique to individuals with DS will yield information about underlying developmental associations between facial regions. We statistically compared morphological integration patterns of immature DS faces (N = 53) with those of non-DS siblings (N = 54), aged 6-12 years using 31 distances estimated from 3D coordinate data representing 17 anthropometric landmarks recorded on 3D digital photographic images. Facial features are affected differentially in DS, as evidenced by statistically significant differences in integration both within and between facial regions. Our results suggest a differential affect of trisomy on facial prominences during craniofacial development. Am J Phys Anthropol, 2011. © 2011 Wiley Periodicals, Inc.
TÍTULO / TITLE:
- Early menopause in mothers of children with Down syndrome?
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Fertil Steril. 2011 Oct;96(4):985-90.
AUTORES / AUTHORS:
- van der Stroom EM; Konig TE; van Dulmen-den Broeder E; Elzinga WS; van Montfrans JM; Haadsma ML; Lambalk CB
INSTITUCIÓN / INSTITUTION:
- Division of Reproductive Medicine, Department of Obstetrics and Gynaecology, VU University Medical Center, Amsterdam, the Netherlands.
RESUMEN / SUMMARY:
- OBJECTIVE: To investigate whether having a Down syndrome pregnancy at a relatively young age is associated with lower ovarian reserve as reflected by lower antimullerian hormone (AMH) levels and the occurrence of earlier menopause. DESIGN: Retrospective, case control study. SETTING: Not applicable. PATIENT(S): Two hundred twenty mothers (118 trisomy cases, 102 controls). INTERVENTION(S): Questionnaire and serum AMH measurement. MAIN OUTCOME MEASURE(S): Serum AMH levels and menopause, defined as not having a menstrual cycle for at least 1 year. RESULT(S): The participant response rate was 93%. After applying the exclusion criteria, 144 women were evaluable (73 trisomy cases, and 71 controls). The baseline characteristics of the women were not statistically significantly different. More women with a Down syndrome pregnancy had an AMH level below 0.5 mug/L, a difference that was statistically significant. Eleven women (15.1%) in the Down syndrome group had reached menopause compared with 9 (12.7%) of the controls. CONCLUSION(S): Women who have had a Down syndrome pregnancy at a younger age show signs of limited ovarian reserve, as evidenced by their frequently having lower AMH levels. The study has found no obvious signs of early menopause thus far. Whether their age at menopause is within the normal range remains to be determined.
TÍTULO / TITLE:
- Variants in CYP17 and CYP19 Cytochrome P450 Genes are Associated with Onset of Alzheimer’s Disease in Women with Down Syndrome.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- J Alzheimers Dis. 2011 Nov 4.
AUTORES / AUTHORS:
- Chace C; Pang D; Weng C; Temkin A; Lax S; Silverman W; Zigman W; Ferin M; Lee JH; Tycko B; Schupf N
INSTITUCIÓN / INSTITUTION:
- The Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University Medical Center, New York, NY, USA Department of Epidemiology, Columbia University Medical Center, New York, NY, USA.
RESUMEN / SUMMARY:
- CYP17 and CYP19 are involved in the peripheral synthesis of estrogens, and polymorphisms in CYP17 and CYP19 have been associated with increased risk of estrogen-related disorders. Women with Down syndrome (DS) have early onset and high risk for Alzheimer’s disease (AD). We conducted a prospective community-based cohort study to examine the relationship between SNPs in CYP17 and CYP19 and cumulative incidence of AD, hormone levels and sex hormone binding globulin in women with DS. Two hundred and thirty-five women with DS, 31 to 67 years of age and nondemented at initial examination, were assessed for cognitive and functional abilities, behavioral/psychiatric conditions, and health status at 14-20 month intervals over five assessment cycles. We genotyped these individuals for single-nucleotide polymorphisms (SNPs) in CYP17 and CYP19. Four SNPs in CYP17 were associated with a two and one half-fold increased risk of AD, independent of APOE genotype. Four SNPs in CYP19 were associated with a two-fold increased risk of AD, although three were significant only in those without an APOE epsilon4 allele. Further, carrying high risk alleles in both CYP17 and CYP19 was associated with an almost four-fold increased risk of AD (OR = 3.8, 95% CI, 1.6-9.5) and elevated sex hormone binding globulin in postmenopausal women. The main effect of the CYP17 and CYP19 variants was to decrease the age at onset. These findings suggest that genes contributing to estrogen bioavailability influence risk of AD in women with DS.
TÍTULO / TITLE:
- Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Birth Defects Res A Clin Mol Teratol. 2011 Oct;91(10):885-93. doi: 10.1002/bdra.22848. Epub 2011 Aug 24.
AUTORES / AUTHORS:
- H Bean LJ; Allen EG; Tinker SW; Hollis ND; Locke AE; Druschel C; Hobbs CA; O’Leary L; Romitti PA; Royle MH; Torfs CP; Dooley KJ; Freeman SB; Sherman S
INSTITUCIÓN / INSTITUTION:
- Department of Human Genetics, Emory University, Atlanta, Georgia, USA.
ljbean@emory.edu
RESUMEN / SUMMARY:
- BACKGROUND: Maternal folic acid supplementation has been associated with a reduced risk for neural tube defects and may be associated with a reduced risk for congenital heart defects and other birth defects. Individuals with Down syndrome are at high risk for congenital heart defects and have been shown to have abnormal folate metabolism. METHODS: As part of the population-based case-control National Down Syndrome Project, 1011 mothers of infants with Down syndrome reported their use of supplements containing folic acid. These data were used to determine whether a lack of periconceptional maternal folic acid supplementation is associated with congenital heart defects in Down syndrome. We used logistic regression to test the relationship between maternal folic acid supplementation and the frequency of specific heart defects correcting for maternal race or ethnicity, proband sex, maternal use of alcohol and cigarettes, and maternal age at conception. RESULTS: Lack of maternal folic acid supplementation was more frequent among infants with Down syndrome and atrioventricular septal defects (odds ratio [OR], 1.69; 95% confidence interval [CI], 1.08-2.63; p = 0.011) or atrial septal defects (OR, 1.69; 95% CI, 1.11-2.58; p = 0.007) than among infants with Down syndrome and no heart defect. Preliminary evidence suggests that the patterns of association differ by race or ethnicity and sex of the proband. There was no statistically significant association with ventricular septal defects (OR, 1.26; 95% CI, 0.85-1.87; p = 0.124). CONCLUSIONS: Our results suggest that lack of maternal folic acid supplementation is associated with septal defects in infants with Down syndrome. Birth Defects Research (Part A), 2011.
HEMATOLOGY/ONCOLOGY - HEMATOLOGÍA/ONCOLOGÍA
TÍTULO / TITLE:
- Myelosuppression and infectious complications in children with down syndrome and acute lymphoblastic leukemia.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Pediatr Blood Cancer. 2011 Nov 21. doi: 10.1002/pbc.23371.
AUTORES / AUTHORS:
- Rabin KR; Smith J; Kozinetz CA
INSTITUCIÓN / INSTITUTION:
- Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
krrabin@txch.org
RESUMEN / SUMMARY:
- Children with Down syndrome (DS) bear an increased risk of acute lymphoblastic leukemia (ALL) and treatment complications. We compared blood counts and toxicities in 22 DS and 44 non-DS ALL patients. Patients with DS had deeper, longer neutrophil and monocyte count nadirs; more toxicities (HR 2.0, P = 0.0005); longer hospitalizations (HR 1.4, P < 0.0001); and more frequent microbiologically documented infections (HR 5.7, P = 0.0019), mucositis (HR 29.0, P = 0.0006), and cellulitis (HR 3.0, P = 0.033). Severe neutropenia, monocytopenia, and increased cellulitis in DS-ALL suggest the importance of skin hygiene, vigilance and aggressive treatment of cutaneous infections. Pediatr Blood Cancer © 2011 Wiley Periodicals, Inc.
TÍTULO / TITLE:
- High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Genes Chromosomes Cancer. 2011 Nov 10. doi: 10.1002/gcc.20944.
AUTORES / AUTHORS:
- Lundin C; Hjorth L; Behrendtz M; Nordgren A; Palmqvist L; Andersen MK; Biloglav A; Forestier E; Paulsson K; Johansson B
INSTITUCIÓN / INSTITUTION:
- catarina.lundin@med.lu.se
RESUMEN / SUMMARY:
- Previous cytogenetic studies of myeloid and acute lymphoblastic leukemias in children with Down syndrome (ML-DS and DS-ALL) have revealed significant differences in abnormality patterns between such cases and acute leukemias in general. Also, certain molecular genetic aberrations characterize DS-related leukemias, such as GATA1 mutations in ML-DS and deregulation of the CRLF2 gene in DS-ALL. Whether microdeletions/microduplications also vary between DS and non-DS cases is presently unclear. To address this issue, we performed single nucleotide polymorphism array analyses of eight pediatric ML-DS and 17 B-cell precursor DS-ALL. In the ML-DS cases, a total of 29 imbalances (20 gains and nine losses) and two partial uniparental isodisomies (pUPDs) were detected. None of the 11 small (defined as <10 Mb) imbalances were recurrent, nor were the pUPDs, whereas of the 18 large aberrations, three were recurrent-dup(1q), +8 and +21. In contrast, several frequent changes were identified in the DS-ALL cases, which harbored 82 imbalances (30 gains and 52 losses) and four pUPDs. Of the 40 large changes, 28 were gains and 12 losses, with +X, dup(Xq), dup(1q), del(7p), dup(8q), del(9p), dup(9p), del(12p), dup(17q), and +21 being recurrent. Of the 40 microdeletions identified, several targeted specific genes, with the following being repeatedly deleted: BTG1 and CDKN2A/B (29% of cases), ETV6, IKZF1, PAX5 and SERP2 (18%), and BTLA, INPP4B, P2RY8, and RB1 (12%). Loss of the SERP2 and INPP4B genes, encoding the stress-associated endoplasmic reticulum protein family member 2 and the inositol polyphosphate 4-phosphatase-II, respectively, has previously never been implicated in leukemia. Although deletions of the other genes have been associated with ALL, the high frequency of BTG1 loss is a novel finding. Such deletions may characterize a clinical subgroup of DS-ALL, comprising mainly boys with a high median age. In conclusion, ML-DS and DS-ALL are genetically distinct, with mainly gains in ML-DS and deletions in DS-ALL. Furthermore, DS-ALL is characterized by several recurrent gene deletions, with BTG1 loss being particularly frequent.
TÍTULO / TITLE:
- Hematological disorders and leukemia in children with Down syndrome.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Eur J Pediatr. 2011 Nov 24.
AUTORES / AUTHORS:
- Bruwier A; Chantrain CF
INSTITUCIÓN / INSTITUTION:
- Department of Pediatric Hematology Oncology, Cliniques Universitaires Saint-Luc, Universite Catholique de Louvain, 1200, Brussels, Belgium.
RESUMEN / SUMMARY:
- Constitutional trisomy 21 inherent to Down syndrome (DS) is associated with several hematological disorders occurring at different ages. Neonates with DS may present with transient asymptomatic blood count abnormalities such as neutrophilia, thrombocytopenia and polycythemia. Within 1-2 months of life, 3-10% of DS infants develop transient myeloproliferative disease. Despite a spontaneous regression in most of the cases, TMD can be fatal or lead to the subsequent development of myeloid leukemia in 20% of DS children (DS ML). DS ML has clinical and biological features that define a unique entity with a high sensitivity to chemotherapy and a favorable outcome. Children with DS also have an increased risk of developing acute lymphoblastic leukemia (ALL) characterized by a more heterogeneous pattern of genetic findings and by a higher rate of treatment-related toxicities. These features highlight the role of trisomy 21 in leukemogenesis and confirm the need of specific and adapted therapeutic approach for DS children with leukemia.
TÍTULO / TITLE:
- A Unique Role of GATA1s in Down Syndrome Acute Megakaryocytic Leukemia Biology and Therapy.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- PLoS One. 2011;6(11):e27486. Epub 2011 Nov 16.
AUTORES / AUTHORS:
- Xavier AC; Edwards H; Dombkowski AA; Balci TB; Berman JN; Dellaire G; Xie C; Buck SA; Matherly LH; Ge Y; Taub JW
INSTITUCIÓN / INSTITUTION:
- Division of Pediatric Hematology/Oncology, Children’s Hospital of Michigan, Detroit, Michigan, United States of America.
RESUMEN / SUMMARY:
- BACKGROUND: Acute megakaryocytic leukemia (AMkL) in Down syndrome (DS) children is uniformly associated with somatic GATA1 mutations, which result in the synthesis of a shorter protein (GATA1s) with altered transactivation activity compared to the wild-type GATA1. It is not fully established whether leukemogenesis and therapeutic responses in DS AMkL patients are due to loss of the wild-type GATA1 or due to a unique function of GATA1s. METHODOLOGY: Stable clones of CMK cells with decreased GATA1s or Bcl-2 levels were generated by using GATA1- or BCL-2-specific lentivirus shRNAs. In vitro ara-C, daunorubicin, and VP-16 cytotoxicities of the shRNA stable clones were determined by using the Cell Titer-blue reagent. Apoptosis and cell cycle distribution were determined by flow cytometry analysis. Changes in gene transcript levels were determined by gene expression microarray and/or real-time RT-PCR. Changes in protein levels were measured by Western blotting. In vivo binding of GATA1s to IL1A promoter was determined by chromatin immunoprecipitation assays. RESULTS: Lentivirus shRNA knockdown of the GATA1 gene in the DS AMkL cell line, CMK (harbors a mutated GATA1 gene and only expresses GATA1s), resulting in lower GATA1s protein levels, promoted cell differentiation towards the megakaryocytic lineage and repressed cell proliferation. Increased basal apoptosis and sensitivities to ara-C, daunorubicin, and VP-16 accompanied by down-regulated Bcl-2 were also detected in the CMK GATA1 shRNA knockdown clones. Essentially the same results were obtained when Bcl-2 was knocked down with lentivirus shRNA in CMK cells. Besides Bcl-2, down-regulation of GATA1s also resulted in altered expression of genes (e.g., IL1A, PF4, and TUBB1) related to cell death, proliferation, and differentiation. CONCLUSION: Our results suggest that GATA1s may facilitate leukemogenesis and potentially impact therapeutic responses in DS AMkL by promoting proliferation and survival, and by repressing megakaryocytic lineage differentiation, potentially by regulating expression of Bcl-2 protein and other relevant genes.
TÍTULO / TITLE:
- Palliative care for patients with Down syndrome -243.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- J Palliat Med. 2011 Oct;14(10):1174-5.
AUTORES / AUTHORS:
- Loitman JE; Gazelle G
INSTITUCIÓN / INSTITUTION:
- Washington University School of Medicine, St Louis, MO 63132, USA.
loitmanj@gmail.com
RESUMEN / SUMMARY:
-
INFECTIOUS DISEASES - INFECCIONES
TÍTULO / TITLE:
- The first report described as an important study: The association of mannose-binding lectin gene 2 polymorphisms in children with Down syndrome.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Indian J Hum Genet. 2011 May;17(2):59-64.
AUTORES / AUTHORS:
- Demirhan O; Tastemir D; Gunesacar R; Guzel AI; Alptekin D
INSTITUCIÓN / INSTITUTION:
- Department of Medical Biology and Genetics, Cukurova University, Adana, Turkey.
RESUMEN / SUMMARY:
- BACKGROUND: Mannose-binding lectin gene 2 (MBL2) plays a very important role in the first line of host immune response in Down syndrome (DS). The importance of MBL2 gene polymorphisms in children with DS is unclear, and no research has addressed MBL2 gene polymorphisms in patients with DS. This is the first report describing an important association between MBL2 gene polymorphisms and infections in children with DS. MATERIALS AND METHODS: We compared the frequency of single-nucleotide polymorphisms (SNPs) at two codons of the MBL2 gene in a cross sectional cohort of 166 children with DS and 229 controls. Polymorphisms at codons 54 (GGC-->GAC) and 57 (GGA-->GAA) in exon 1 of the MBL2 gene were typed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) technique using the restriction enzymes BshN1 (derivated from Bacillus sphaericus) and MboII (derivated from Moraxella bovis), respectively. RESULTS: MBL2 codon 54 GA genotype frequency was found to be lower in patients with DS (22.9%) than those of healthy controls (35.8%), differences were statistically significant (OR = 0.532, 95% CI = 0.339-0.836, P = 0.008). On the other hand, codon 57 polymorphism in the MBL2 gene was detected in none of the DS patients, but only one person in the control group showed codon 57 GA genotype (OR = 1.004, 95% CI = 0.996-1.013, P = 1.000). CONCLUSION: Our data provides an evidence for the first time that a homozygote or heterozygote for the variant, MBL2 alleles, is not associated with infections in patients with DS, and do not influence the incidence of infections.
TÍTULO / TITLE:
- A rare cause of bacteremia in a pediatric patient with Down syndrome: Sphingomonas paucimobilis.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Int J Med Sci. 2011;8(7):537-9. Epub 2011 Sep 14.
AUTORES / AUTHORS:
- Ozdemir M; Pekcan S; Demircili ME; Tasbent FE; Feyzioglu B; Pirinc S; Baykan M
INSTITUCIÓN / INSTITUTION:
- Department of Medical Microbiology, Selcuk University Meram Faculty of Medicine, Konya, Turkey
mehmetozdem@yahoo.com
RESUMEN / SUMMARY:
- Sphingomonas paucimobilis, is a yellow-pigmented, aerobic, non fermentative, gram negative motile bacillus. S. paucimobilis which is widely found in nature and hospital environments rarely cause serious or life threatening infections. In this report, a case of hospital acquired bloodstream infection due to S. paucimobilis in a patient with Down syndrome who was on treatment for presumed pneumonia is presented. A one year-old child patient who was a known case of Down syndrome and had previously experienced cardiac surgery was hospitalized and treated for pneumonia. On the 12th day of hospitalization, blood cultures were taken because of a high body temperature. One of the blood cultures was positive for gram-negative rods. After 48 hour of incubation, the sub-cultures on blood agar medium yielded pure growth of a yellow, non-fermentative, gram-negative, rod-shaped bacterium. The microorganism was positive for oxidase, and esculin hydrolysis, while negative for urea and nitrate reduction, citrate utilisation and motility. The isolate had been identified as S. paucimobilis by using Vitek 2 system. The antibiotic susceptibility test was also performed with the same system and the strain was found to be susceptible to piperacillin-tazobactam and other antibiotics. Treatment with intravenous piperacilin-tazobactam (150 mg/kg/day) was initiated. He responded well to the treatment and was discharged after 10 days. This case is reported to emphasize that S. paucimobilis should be kept in mind as a nosocomial infectious agent in patients with Down syndrome and immunosuppressive patients and the infections should be treated according to the sensitivity test results.
TÍTULO / TITLE:
- Down syndrome presenting with multiple sclerosis, thyroid dysfunction, and diabetes mellitus.
RESUMEN / SUMMARY:
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REVISTA / JOURNAL:
- Neurosciences (Riyadh). 2011 Oct;16(4):375-7.
AUTORES / AUTHORS:
- Nabavi SM; Hamzehloo A; Sabet Z
INSTITUCIÓN / INSTITUTION:
- MS Research Unit, Neurology Department, Shahed University of Medical Sciences, Tehran, Iran.
RESUMEN / SUMMARY:
- Down syndrome (DS) is one of the most common survivable chromosomal disorders, and is well known to be associated with multiple autoimmune diseases. Multiple sclerosis (MS) is a chronic inflammatory autoimmune demyelinating disease of the central nervous system. An association of DS and other autoimmune disease has been previously reported, and we report one case of DS in coexistence with MS, diabetes mellitus, and thyroid diseases. We suggest that MS, such as other autoimmune diseases, is prevalent in DS patients.
MOLECULAR BIOLOGY/BIOCHEMISTRY - BIOLOGÍA MOLECULAR/BIOQUÍMICA
TÍTULO / TITLE:
- Exploratory investigation on functional significance of ETS2 and SIM2 genes in Down syndrome.
RESUMEN / SUMMARY:
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REVISTA / JOURNAL:
- Dis Markers. 2011 Jan 1;31(5):247-57.
AUTORES / AUTHORS:
- Chatterjee A; Dutta S; Sinha S; Mukhopadhyay K
INSTITUCIÓN / INSTITUTION:
- Manovikas Biomedical Research and Diagnostic Centre, MRIH, Kolkata, India.
RESUMEN / SUMMARY:
- Trisomy of the 21{st} chromosome leads to an over dosage of several regulatory genes in Down syndrome (DS). Though allelic and genotypic combinations formed between genes are interesting, till date, this particular area has never been explored in DS. In the present investigation four SNPs in two transcription factors, Single minded 2 (SIM2) and V-ets erythroblastosis virus E26 oncogene homolog2 (ETS
TÍTULO / TITLE:
- Rescue of synaptic failure and alleviation of learning and memory impairments in a trisomic mouse model of down syndrome.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- J Neuropathol Exp Neurol. 2011 Dec;70(12):1070-9.
AUTORES / AUTHORS:
- Blanchard J; Bolognin S; Chohan MO; Rabe A; Iqbal K; Grundke-Iqbal I
INSTITUCIÓN / INSTITUTION:
- From the Department of Neurochemistry, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York.
RESUMEN / SUMMARY:
- ABSTRACT: Down syndrome (DS) is caused by the triplication of approximately 240 protein-coding genes on chromosome 21 and is the most prevalent form of developmental disability. This condition results in abnormalities in many organ systems, as well as in intellectual retardation. Many previous efforts to understand brain dysfunction in DS have indicated that cognitive deficits are coincident with reduced synaptic plasticity and decreased neuronal proliferation. One therapeutic strategy for optimizing the microenvironment for neuronal proliferation and synaptic plasticity in the brain is the use of neurotrophins to restore the homeostasis of the brain biochemical milieu. Here, we show that peripheral administration of Peptide 6, an 11-mer corresponding to an active region of ciliary neurotrophic factor, amino acid residues 146 to 156, can inhibit learning and memory impairments in Ts65Dn mice, a trisomic mouse model of DS. Long-term treatment with Peptide 6 enhanced the pool of neural progenitor cells in the hippocampus and increased levels of synaptic proteins crucial for synaptic plasticity. These findings suggest a therapeutic potential of Peptide 6 in promoting functional neural integration intonetworks, thereby strengthening biologic substrates of memory processing.
TÍTULO / TITLE:
- Exaggerated NMDA mediated LTD in a mouse model of Down syndrome and pharmacological rescuing by memantine.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Learn Mem. 2011 Nov 18;18(12):774-8. doi: 10.1101/lm.024182.111. Print 2011 Dec.
AUTORES / AUTHORS:
- Scott-McKean JJ; Costa AC
INSTITUCIÓN / INSTITUTION:
- Neuroscience Training Program, University of Colorado, Anschutz Medical Campus, Aurora, Colorado 80045, USA.
RESUMEN / SUMMARY:
- The Ts65Dn mouse is the best-studied animal model for Down syndrome. In the experiments described here, NMDA-mediated or mGluR-mediated LTD was induced in the CA1 region of hippocampal slices from Ts65Dn and euploid control mice by bath application of 20 microM NMDA for 3 min and 50 microM DHPG for 5 min, respectively. We found that Ts65Dn mice display exaggerated NMDA-induced, but not mGluR-induced, LTD in the CA1 region of the hippocampus compared with euploid control animals. In addition, this abnormal level of LTD can be pharmacologically rescued by the NMDA receptor antagonist memantine.
TÍTULO / TITLE:
- Chronic Treatment with a Promnesiant GABA-A alpha5-Selective Inverse Agonist Increases Immediate Early Genes Expression during Memory Processing in Mice and Rectifies Their Expression Levels in a Down
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Adv Pharmacol Sci. 2011;2011:153218. Epub 2011 Oct 19.
AUTORES / AUTHORS:
- Braudeau J; Dauphinot L; Duchon A; Loistron A; Dodd RH; Herault Y; Delatour B; Potier MC
INSTITUCIÓN / INSTITUTION:
- Centre de Recherche de l’Institut du Cerveau et de Moelle Epiniere, INSERM UMRS 975, CNRS UMR7225, UPMC, 75013 Paris, France.
RESUMEN / SUMMARY:
- Decrease of GABAergic transmission has been proposed to improve memory functions. Indeed, inverse agonists selective for alpha5 GABA-A-benzodiazepine receptors (alpha5IA) have promnesiant activity. Interestingly, we have recently shown that alpha5IA can rescue cognitive deficits in Ts65Dn mice, a Down syndrome mouse model with altered GABAergic transmission. Here, we studied the impact of chronic treatment with alpha5IA on gene expression in the hippocampus of Ts65Dn and control euploid mice after being trained in the Morris water maze task. In euploid mice, chronic treatment with alpha5IA increased IEGs expression, particularly of c-Fos and Arc genes. In Ts65Dn mice, deficits of IEGs activation were completely rescued after treatment with alpha5IA. In addition, normalization of Sod1 overexpression in Ts65Dn mice after alpha5IA treatment was observed. IEG expression regulation after alpha5IA treatment following behavioral stimulation could be a contributing factor for both the general promnesiant activity of alpha5IA and its rescuing effect in Ts65Dn mice alongside signaling cascades that are critical for memory consolidation and cognition.
TÍTULO / TITLE:
- A comparison of in vitro properties of resting SOD1 transgenic microglia reveals evidence of reduced neuroprotective function
RESUMEN / SUMMARY:
REVISTA / JOURNAL:
- BMC NEUROSCIENCE 12 10.1186/1471-2202-12-91 SEP 23 2011
AUTORES / AUTHORS:
- Sargsyan, SA; Blackburn, DJ; Barber, SC; Grosskreutz, J; De Vos, KJ; Monk, PN; Shaw, PJ
RESUMEN / SUMMARY:
- Background: Overexpression of mutant copper/zinc superoxide dismutase (SOD1) in rodents has provided useful models for studying the pathogenesis of amyotrophic lateral sclerosis (ALS). Microglia have been shown to contribute to ALS disease progression in these models, although the mechanism of this contribution remains to be elucidated. Here, we present the first evidence of the effects of overexpression of mutant (TG G93A) and wild type (TG WT) human SOD1 transgenes on a set of functional properties of microglia relevant to ALS progression, including expression of integrin beta-1, spreading and migration, phagocytosis of apoptotic neuronal cell debris, and intracellular calcium changes in response to an inflammatory stimulus.
Results: TG SOD1 G93A but not TG SOD1 WT microglia had lower expression levels of the cell adhesion molecule subunit integrin b-1 than their NTG control cells [NTG (G93A) and NTG (WT), respectively, 92.8 +/- 2.8% on TG G93A, 92.0 +/- 6.6% on TG WT, 100.0 +/- 1.6% on NTG (G93A), and 100.0 +/- 2.7% on NTG (WT) cells], resulting in decreased spreading ability, with no effect on ability to migrate. Both TG G93A and TG WT microglia had reduced capacity to phagocytose apoptotic neuronal cell debris (13.0 +/- 1.3% for TG G93A, 16.5 +/- 1.9% for TG WT, 28.6 +/- 1.8% for NTG (G93A), and 26.9 +/- 2.8% for NTG (WT) cells). Extracellular stimulation of microglia with ATP resulted in smaller increase in intracellular free calcium in TG G93A and TG WT microglia relative to NTG controls (0.28 +/- 0.02 mu M for TG G93A, 0.24 +/- 0.03 mu M for TG WT, 0.39 +/- 0.03 mu M for NTG (G93A), and 0.37 +/- 0.05 mu M for NTG (WT) microglia).
Conclusions: These findings indicate that, under resting conditions, microglia from mutant SOD1 transgenic mice have a reduced capacity to elicit physiological responses following tissue disturbances and that higher levels of stimulatory signals, and/or prolonged stimulation may be necessary to initiate these responses. Overall, resting mutant SOD1-overexpressing microglia may have reduced capacity to function as sensors of disturbed tissue/cellular homeostasis in the CNS and thus have reduced neuroprotective function.
TÍTULO / TITLE:
- Microglial pathology in Down syndrome
RESUMEN / SUMMARY:
REVISTA / JOURNAL:
- ACTA NEUROPATHOLOGICA 122 (4): 455-466 10.1007/s00401-011-0864-5 OCT 2011
AUTORES / AUTHORS:
- Xue, QS; Streit, WJ
RESUMEN / SUMMARY:
- Abstract: Subjects with Down syndrome (DS) inevitably develop histopathological features pathognomonic of Alzheimer`s disease (AD), and DS can therefore be considered a human model of AD. Similar to AD, microglial activation has been reported in DS and the idea that detrimental neuroinflammation plays a key role in the pathogenesis of neurodegeneration is firmly embedded. However, recent work from this laboratory has offered evidence for an alternative view regarding the role of microglial cells in AD pathogenesis by showing presence of dystrophic (senescent) rather than activated microglia in both the AD and DS brain. In this report, we build on previously published observations in human brain and offer a detailed analysis of microglial senescent pathology in the temporal cortices of 6 DS cases in their 40s, a critical age bracket where virtually all DS subjects acquire neurofibrillary degeneration characteristic of AD. Our findings using both Iba1 and anti-ferritin immu nostaining of microglial cells show that coincident with the appearance of tau pathology in DS subjects there is consistent presence of dystrophic microglial cells and conspicuous absence of activated microglia using both markers. The extent of microglial pathology varied among the individual DS cases, but they all revealed decreased numbers of normal microglia ranging from 19 to 85% of the controls. Nearly all of the ferritin-positive microglia, which constitute a subset of the total Iba1-reactive microglial population, exhibited dystrophic morphology. In its most severe form dystrophy was evident as total fragmentation of the cells` cytoplasm (cytorrhexis), which likely reflects terminal degeneration of microglia. Severely dystrophic, ferritin-positive cells were often found to be colocalized with tau-positive senile plaques. Our findings help to consolidate the idea that microglial degeneration and neurofibrillary degeneration are closely linked events in a human model of AD. They suggest that microglial degeneration follows a gra! dually p rogressive course that increases in its severity in parallel with the progression of AD neurodegenerative changes.
TÍTULO / TITLE:
- A neuroimaging proof of principle study of Down’s syndrome and dementia: ethical and methodological challenges in intrusive research.
RESUMEN / SUMMARY:
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REVISTA / JOURNAL:
- Intellect Disabil Res. 2011 Nov 2. doi: 10.1111/j.1365-2788.2011.01495.x.
AUTORES / AUTHORS:
- ’Abrera JC; Holland AJ; Landt J; Stocks-Gee G; Zaman SH
INSTITUCIÓN / INSTITUTION:
- Department of Psychiatry, University of Cambridge, Cambridge, UK Department of Psychology, University of Cambridge, Cambridge, UK Department of Neurosciences, University of Cambridge, Cambridge, UK.
RESUMEN / SUMMARY:
- Background Research into specific illnesses and the development of new treatments may only become possible as new technologies become available. When used for research, such technologies may best be described as ‘intrusive’, in that they require a considerable willingness and commitment on the part of the participants. This has increasingly been the case for brain disorders and illnesses where novel neuroimaging techniques, often combined with clinical and psychological assessments, have the potential to result in new understanding. People with intellectual disabilities (ID) have a history of under-representation as participants in research using such technologies and are therefore at risk of not receiving equal access to state-of-the-art treatments. We propose that ‘intrusive’ biomedical research is both possible and ethical in ID, and explore some of the methodological challenges by reference to a recent proof of principle study that used a relatively new ligand-based brain scanning technique in a group of volunteers with Down’s syndrome. Methods Five overlapping stages of the study methodology were identified and evaluated for their acceptability to volunteers with mild to moderate ID through discussion, reflection, and analysis of structured feedback in the context of key policy documents, ethical guidelines and relevant legislation. Results Identification of key ethical and methodological challenges from reflective practice and participant feedback facilitated the emergence of strategies that permitted continual refinement of the study design. Important areas considered included (1) being clear about the purpose and scientific justification for the study; (2) reconciling the potential risks and benefits with relevant ethical guidelines and legislation; (3) identifying and implementing effective recruitment strategies; (4) optimising and assessing capacity to consent; and (5) making the ‘intrusive’ procedures as acceptable as possible to people with ID. Conclusion We were able to demonstrate that a proof of principle study incorporating a novel brain scanning technique in a group of volunteers with ID was feasible, safe and well tolerated, despite the vulnerabilities of the study cohort and the intrusive nature of the research. We consider the study within an ethical and historical discourse about the principles that define current ‘best practice’ in ID research and propose a number of key recommendations for making intrusive research acceptable in people with ID.
TÍTULO / TITLE:
- A volumetric magnetic resonance imaging study of brain structures in children with Down syndrome.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Neurol Neurochir Pol. 2011 Jul-Aug;45(4):363-9.
AUTORES / AUTHORS:
- Smigielska-Kuzia J; Bockowski L; Sobaniec W; Sendrowski K; Olchowik B; Cholewa M; Lukasiewicz A; Lebkowska U
INSTITUCIÓN / INSTITUTION:
- dr Joanna Smigielska-Kuzia, Klinika Neurologii i Rehabilitacji Dzieciecej UMB, Bialystok.
jsmig1@poczta.onet.pl
RESUMEN / SUMMARY:
- BACKGROUND AND PURPOSE : Down syndrome (DS) is the most common genetic cause of mental retardation with deficits in language and memory. Mental retardation of varying degrees is the most consistent feature of DS. The objective of this study was to use high-resolution magnetic resonance imaging (MRI) techniques to investigate the volumes of the hippocampus, amygdala, and temporal and frontal lobes in children with DS compared with healthy children. MATERIAL AND METHODS : MRI of 49 patients was reviewed prospectively. The study included 23 children with DS (9 girls and 14 boys, mean age 6.7 +/- 3.7 years) and 26 healthy children (11 girls and 15 boys, mean age 8.3 +/- 2.4 years). Volumes of the right and left hippocampus, the right and left amygdala, temporal and frontal lobes and the total brain volume were measured by a radiologist who was unaware of the diagnosis. RESULTS : Total brain volume in children with DS was significantly lower compared with controls. It was associated with significantly lower volume of the frontal and temporal lobes. Children with DS had a significantly smaller right and left hippocampus volume and a significantly smaller right and left amygdala volume than did the control group. We also found a negative correlation between mental retardation and volume of the right hippocampus. CONCLUSIONS : The presence of these abnormalities from an early age contributes to the specific cognitive and developmental deficits seen in children with DS.
TÍTULO / TITLE:
- Strabismus, refractive errors and nystagmus in children and young adults with Down syndrome
RESUMEN / SUMMARY:
REVISTA / JOURNAL:
- OPHTHALMIC GENETICS 32 (4): 204-211 10.3109/13816810.2011.592175 NOV 2011
AUTORES / AUTHORS:
- Ljubic, A; Trajkovski, V; Stankovic, B
RESUMEN / SUMMARY:
- Purpose: The aims of the present population-based, cross-sectional study were to examine the frequency and type of strabismus, refractive errors and nystagmus in children and young adults with Down syndrome (DS) in Macedonia and Croatia.
Methods: A total of 170 unselected children and young adults with DS aged 1-34 years were examined for ocular findings. The ocular examination included: a visual acuity assessment, cycloplegic refraction, ocular alignment and ocular motility.
Results: Strabismus was found in 45 of 170 children (26.5%), and esodeviation was the most common type. Nine (20%) had exodeviation and 4 (8.9%) vertical deviation. In 27 of 32 esotropic patients, the strabismus was regarded as acquired esodeviations. The frequency of strabismus was lowest in the high-grade hyperopia group (5%). Concerning esodeviations, fewer cases (3%) were in the high-grade hyperopia group. Most of the cases with esodeviations were in correlation with low-grade hyperopia (31%), myopia (28%) and emetropia (16%). Hyperopia was the most common refractive error and high myopia increased in prevalence in the over 20 age group. Astigmatism was present in 72.4% of patients. Nystagmus was observed in 18 patients. Ten of 18 patients with nystagmus were associated with the presence of strabismus (9 esodeviations, 1 exotropia). Conclusion: In our study, the high prevalence of strabismus can not be attributed to the presence of hyperopia. Our data show no association between refraction and strabismus in children with DS. Oblique astigmatism has been found to be the most common type of astigmatism in our study group
TÍTULO / TITLE:
- Instability of the hip in patients with down syndrome: improved results with complete redirectional acetabular osteotomy.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- J Bone Joint Surg Am. 2011 Oct 19;93(20):1924-33.
AUTORES / AUTHORS:
- Sankar WN; Millis MB; Kim YJ
INSTITUCIÓN / INSTITUTION:
- Children’s Hospital Boston, Boston, MA 02115, USA.
RESUMEN / SUMMARY:
- BACKGROUND: The treatment of hip instability in patients with Down syndrome is challenging, and the literature provides little data to guide treatment. The purpose of the present study was to evaluate our results with complete redirectional acetabular osteotomy and to compare these results with our experience with other procedures. METHODS: We retrospectively evaluated all patients with Down syndrome who underwent surgery for the treatment of gross hip instability or symptomatic acetabular dysplasia with or without subluxation. Medical records were reviewed for symptoms and demographic information. On the basis of the primary procedure, the patients were separated into Group A (periacetabular or triple osteotomy) or Group B (varus femoral osteotomy with or without incomplete acetabuloplasty [e.g., Dega osteotomy or shelf acetabuloplasty]). Preoperative and latest postoperative radiographs were used to compare the extrusion index, the lateral center-edge angle, the Tonnis angle, and the continuity of the Shenton line. Preoperative computed tomography (CT) scans were measured for acetabular version. RESULTS: We identified thirty-five hips (twenty-three patients), including twenty-five hips in Group A and ten in Group B. The mean age was 11.8 years, and the mean duration of follow-up was 5.3 years. Preoperatively, the acetabula were retroverted in both groups. Patients in Group A had worse initial hip pathology than those in Group B, as indicated by a higher mean extrusion index (50% compared with 33%; p = 0.06), a smaller center-edge angle (1 degrees compared with 15 degrees ; p = 0.003), a larger Tonnis angle (21 degrees compared with 10 degrees ; p = 0.001), and a smaller percentage of patients with an intact Shenton line (20% compared with 40%; p = 0.39). Most recent radiographs, however, showed superior results for Group A, including a lower mean extrusion index (10% compared with 29%; p < 0.0001), a larger center-edge angle (33 degrees compared with 14 degrees ; p < 0.001), a smaller Tonnis angle (-1 degrees compared with 10 degrees ; p < 0.001), and a larger percentage of patients with an intact Shenton line (88% compared with 70%; p = 0.32). Preoperatively, eighteen hips demonstrated gross instability: twelve were treated with either periacetabular osteotomy or triple innominate osteotomy, and all but one (92%) remained stable at the time of the latest follow-up. In contrast, six hips were treated with femoral osteotomy with or without incomplete acetabuloplasty, with only three (50%) remaining stable. CONCLUSIONS: Complete redirectional acetabular osteotomies are successful for stabilizing the hip and for correcting acetabular dysplasia in patients with Down syndrome.
TÍTULO / TITLE:
- Movement skills of younger versus older adults with and without Down syndrome.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Res Dev Disabil. 2012 Jan;33(1):165-71. Epub 2011 Oct 4.
AUTORES / AUTHORS:
- armeli E; Ariav C; Bar-Yossef T; Levy R; Imam B
INSTITUCIÓN / INSTITUTION:
- Department of Physical Therapy, Sackler Faculty of Medicine, Stanley Steyer School of Health Professions, Tel Aviv University, Ramat Aviv 69978, Israel.
RESUMEN / SUMMARY:
- Adults with Down syndrome (DS) are often physically inactive, which may accelerate the onset of disease and aging symptoms. Eight older persons with DS (aged 54-61), and 10 younger persons with DS (aged 26-35) living in a residential care center were examined. Eighteen age- and gender-matched individuals without DS served as control groups. Sensory-motor tasks and Posture Scale Analyzer (PSA) were used to examine coordination and standing stability. The isokinetic muscle strength test was used for muscle strength investigation. The functional performance, coordination, and leg muscle strength of the older adults with DS were more impaired than both the younger DS and the control groups. The older DS group showed lower sway rate and more symmetrical weight-bearing distribution during quiet standing than both the younger DS and the control groups. Our observations may have significant implications for understanding movement dysfunction in older adults with DS.
TÍTULO / TITLE:
- Pedometer variance in adults with down syndrome during free walking: a generalizability study.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- J Phys Act Health. 2011 Nov;8(8):1143-51.
AUTORES / AUTHORS:
- Pitchford EA; Yun J
INSTITUCIÓN / INSTITUTION:
- School of Kinesiology, University of Michigan, Ann Arbor, MI.
RESUMEN / SUMMARY:
- BACKGROUND: Pedometers are a common instrument used to measure walking activity, yet reliability evidence in disability populations, particularly Down syndrome (DS), has received little attention. There may be systematic and random sources of error that could influence reliability under natural walking conditions. The purpose of this study was to examine the sources of variance and estimate reliability coefficients of spring-levered (SL) and piezoelectric (PZ) pedometers for adults with DS during a free-walking bout. METHODS: Seventeen adults with DS and 23 adults without a disability walked continuously for a 20-minute period wearing 2 types of pedometers, SL and PZ. Step counts were analyzed using Generalizability theory to partition and quantify variance components and calculate reliability coefficients. RESULTS: The largest variance component was due to individual participant differences. Adults with DS demonstrated greater intraindividual variability, but also had relatively low proportions of residual variance, or unexplained error. The SL pedometer showed problems with interunit variance while the PZ pedometer demonstrated little systematic error. Reliability coefficients were consistently higher for the PZ pedometer. CONCLUSIONS: This study found minimal systematic error and moderate reliability evidence for the PZ pedometer. This type of pedometer may be used in future research for adults with DS.
TÍTULO / TITLE:
- Patterns of Gait Variability Across the Lifespan in Persons With and Without Down Syndrome.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- J Neurol Phys Ther. 2011 Dec;35(4):170-177.
AUTORES / AUTHORS:
- Smith BA; Stergiou N; Ulrich BD
INSTITUCIÓN / INSTITUTION:
- Balance Disorders Laboratory, Departments of Neurology and Behavioral Neuroscience, Oregon Health & Science University, Portland, Oregon (B.A.S.); Nebraska Core Biomechanics Facility, University of Nebraska at Omaha, & Department of Environ
RESUMEN / SUMMARY:
- BACKGROUND AND PURPOSE:: Greater gait variability has been observed in persons with Down syndrome (DS). An understanding of baseline patterns of variability, how these patterns relate to adaptive control of gait, and whether increasing or decreasing variability is better is necessary for physical therapists to determine whether and when to intervene. Our aim was to describe patterns of gait variability across the lifespan in persons with DS. METHODS:: We examined differences in patterns of gait variability in new walkers, preadolescents, and adults with DS and typical development (TD). We collected kinematic data, while participants walked on a treadmill, and analyzed the data using the nonlinear measures of Lyapunov Exponent (LyE) and Approximate Entropy (ApEn). RESULTS:: Beyond the greater gait variability demonstrated across the lifespan in persons with DS compared with their peers with TD, we report herein significant differences in nonlinear measures of patterns of variability. Preadolescents demonstrated higher LyE and ApEn values than new walkers and adults, suggesting that they are more adaptive in their use of variability during gait. CONCLUSION:: From a clinical perspective, our results suggest that it may be of value to focus interventions on increasing adaptive use of variability during gait in new walkers and adults with DS. Experience with increased variability through practice under variable conditions or with perturbations may improve adaptive use of variability during gait.
TÍTULO / TITLE:
- Patterns of Gait Variability Across the Lifespan in Persons With and Without Down Syndrome.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- J Neurol Phys Ther. 2011 Dec;35(4):170-177.
AUTORES / AUTHORS:
- Smith BA; Stergiou N; Ulrich BD
INSTITUCIÓN / INSTITUTION:
- Balance Disorders Laboratory, Departments of Neurology and Behavioral Neuroscience, Oregon Health & Science University, Portland, Oregon (B.A.S.); Nebraska Core Biomechanics Facility, University of Nebraska at Omaha, & Department of Environ
RESUMEN / SUMMARY:
- BACKGROUND AND PURPOSE:: Greater gait variability has been observed in persons with Down syndrome (DS). An understanding of baseline patterns of variability, how these patterns relate to adaptive control of gait, and whether increasing or decreasing variability is better is necessary for physical therapists to determine whether and when to intervene. Our aim was to describe patterns of gait variability across the lifespan in persons with DS. METHODS:: We examined differences in patterns of gait variability in new walkers, preadolescents, and adults with DS and typical development (TD). We collected kinematic data, while participants walked on a treadmill, and analyzed the data using the nonlinear measures of Lyapunov Exponent (LyE) and Approximate Entropy (ApEn). RESULTS:: Beyond the greater gait variability demonstrated across the lifespan in persons with DS compared with their peers with TD, we report herein significant differences in nonlinear measures of patterns of variability. Preadolescents demonstrated higher LyE and ApEn values than new walkers and adults, suggesting that they are more adaptive in their use of variability during gait. CONCLUSION:: From a clinical perspective, our results suggest that it may be of value to focus interventions on increasing adaptive use of variability during gait in new walkers and adults with DS. Experience with increased variability through practice under variable conditions or with perturbations may improve adaptive use of variability during gait.
TÍTULO / TITLE:
- The effects of diagnostic group and gender on challenging behaviors in infants and toddlers with cerebral palsy, Down syndrome or seizures.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Res Dev Disabil. 2012 Jan;33(1):258-64. Epub 2011 Oct 11.
AUTORES / AUTHORS:
- Hattier MA; Matson JL; Belva B; Kozlowski A
INSTITUCIÓN / INSTITUTION:
- Louisiana State University, USA.
RESUMEN / SUMMARY:
- Challenging behaviors are frequently studied in individuals with various developmental disabilities, although specific conditions are rarely compared to one another. Such data would be informative to clinicians who assess and develop treatment plans for children with these disabilities. For that reason, the current study’s aim was to analyze problem behavior deficits in infants and toddlers diagnosed with cerebral palsy (CP), Down syndrome (DS), and a history of seizures/seizure disorder. Seventy six children participated in this study and were administered the Baby and Infant Screen for Children with aUtIsm Traits-Part 2 (BISCUIT-Part 2). Inspection of the Tantrum/Conduct Behavior subscale of this measure revealed that children with a history of seizures/seizure disorder exhibited significantly higher scores, indicating greater impairment, than those with CP or DS. Children with DS and those diagnosed with CP did not significantly differ from one another. Additionally, there was no significant main effect by gender. The CP and DS groups also had fewer endorsements on all 18 items of the subscale as compared to the seizures group. Implications of these results are discussed.
PRENATAL DIAGNOSIS - DIAGNÓSTICO
TÍTULO / TITLE:
- Non-invasive prenatal diagnosis of trisomy 21 by dosage ratio of fetal chromosome-specific epigenetic markers in maternal plasma.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- J Huazhong Univ Sci Technolog Med Sci. 2011 Oct;31(5):687-92. Epub 2011 Oct 25.
AUTORES / AUTHORS:
- Zhang M; Li T; Chen J; Li L; Zhou C; Wang Y; Liu W; Zhang Y
INSTITUCIÓN / INSTITUTION:
- Reproductive Medicine Center, Zhongnan Hospital, Wuhan University, Wuhan, 430071, China
zhangming00011@126.com
RESUMEN / SUMMARY:
- This study examined the methylation difference in AIRE and RASSF1A between maternal and placental DNA, and the implication of this difference in the identification of free fetal DNA in maternal plasma and in prenatal diagnosis of trisomy 21. Maternal plasma samples were collected from 388 singleton pregnancies, and placental or chorionic villus tissues from 112 of them. Methylation-specific PCR (MSP) and methylation-sensitive restriction enzyme digestion followed by fluorescent quantitative PCR (MSRE + PCR) were employed to detect the maternal-fetal methylation difference in AIRE and RASSF1A. Diagnosis of trisomy 21 was established according to the ratio of fetal-specific AIRE to RASSF1A in maternal plasma. Both methods confirmed that AIRE and RASSF1A were hypomethylated in maternal blood cells but hypermethylated in placental or chorionic villus tissues. Moreover, the differential methylation for each locus could be seen during the whole pregnant period. The positive rates of fetal AIRE and RASSF1A in maternal plasma were found to be 78.1% and 82.1% by MSP and 94.8% and 96.9% by MSRE + PCR. MSRE + PCR was superior to MSP in the identification of fetal-specific hypermethylated sequences (P<0.05). Based on the data from 266 euploidy pregnancies, the 95% reference interval of the fetal AIRE/RASSF1A ratio in maternal plasma was 0.33-1.77, which was taken as the reference value for determining the numbers of fetal chromosome 21 in 102 pregnancies. The accuracy rate in 98 euploidy pregnancies was 96.9% (95/98). Three of the four trisomy 21 pregnancies were confirmed with this method. It was concluded that hypermethylated AIRE and RASSF1A may serve as fetal-specific markers for the identification of fetal DNA in maternal plasma and may be used for noninvasive prenatal diagnosis of trisomy 21.
TÍTULO / TITLE:
- DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study.
RESUMEN / SUMMARY:
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REVISTA / JOURNAL:
- Genet Med. 2011 Nov;13(11):913-920.
AUTORES / AUTHORS:
- Palomaki GE; Kloza EM; Lambert-Messerlian GM; Haddow JE; Neveux LM; Ehrich M; van den Boom D; Bombard AT; Deciu C; Grody WW; Nelson SF; Canick JA
INSTITUCIÓN / INSTITUTION:
- From the 1Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women & Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island; 2Sequenom Inc., and 3Sequenom Cente
RESUMEN / SUMMARY:
- PURPOSE:: Prenatal screening for Down syndrome has improved, but the number of resulting invasive diagnostic procedures remains problematic. Measurement of circulating cell-free DNA in maternal plasma might offer improvement. METHODS:: A blinded, nested case-control study was designed within a cohort of 4664 pregnancies at high risk for Down syndrome. Fetal karyotyping was compared with an internally validated, laboratory-developed test based on next-generation sequencing in 212 Down syndrome and 1484 matched euploid pregnancies. None had been previously tested. Primary testing occurred at a CLIA-certified commercial laboratory, with cross validation by a CLIA-certified university laboratory. RESULTS:: Down syndrome detection rate was 98.6% (209/212), the false-positive rate was 0.20% (3/1471), and the testing failed in 13 pregnancies (0.8%); all were euploid. Before unblinding, the primary testing laboratory also reported multiple alternative interpretations. Adjusting chromosome 21 counts for guanine cytosine base content had the largest impact on improving performance. CONCLUSION:: When applied to high-risk pregnancies, measuring maternal plasma DNA detects nearly all cases of Down syndrome at a very low false-positive rate. This method can substantially reduce the need for invasive diagnostic procedures and attendant procedure-related fetal losses. Although implementation issues need to be addressed, the evidence supports introducing this testing on a clinical basis.
TÍTULO / TITLE:
- Fetal hydrops and anemia as signs of Down syndrome.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- J Formos Med Assoc. 2011 Nov;110(11):716-8. Epub 2011 Oct 19.
AUTORES / AUTHORS:
- Sukur YE; Gozukucuk M; Bayramov V; Koc A
INSTITUCIÓN / INSTITUTION:
- Ankara University, Faculty of Medicine, Obstetrics and Gynecology Department, Ankara Universitesi Tip Fakultesi, Cebeci Hastanesi, Kadin Hastaliklari ve Dogum A.D., Dikimevi, 06100 Ankara, Turkey.
RESUMEN / SUMMARY:
- Before the 20(th) week of gestation, the most common cause of nonimmune hydrops fetalis is chromosomal abnormalities. Herein, we report a case of fetal hydrops, anemia, and intrauterine growth retardation that presented at 27 weeks of gestation with a negative chromosomal abnormality screening. Cordocentesis and karyotype analysis revealed fetal pancytopenia and Down syndrome. Down syndrome rarely presents with fetal hydrops and anemia. Therefore, when hydrops and anemia are diagnosed, especially in the second trimester of gestation, the possibility of Down syndrome should be kept in mind. In addition, if the pregnancy results in a live birth, the baby should be examined for transient abnormal myelopoiesis.
TÍTULO / TITLE:
- Direct access midwifery booking for prenatal care and its role in Down syndrome screening
RESUMEN / SUMMARY:
REVISTA / JOURNAL:
- PRENATAL DIAGNOSIS 31 (10): 985-989 10.1002/pd.2820 OCT 2011
AUTORES / AUTHORS:
- Nawaz, TS; Tringham, GM; Holding, S; McFarlane, J; Lindow, SW
RESUMEN / SUMMARY:
- Abstract: Objective To compare the uptake of Down syndrome screening by women following referral by direct access and general practitioner (GP) modes.
Methods The method of referral by either GP or direct access, for women who booked into prenatal care in Hull and East Yorkshire in 2010, was analysed using data collected from the Protos database at the Women and Children`s Hospital, Hull. Subsequently, the uptake of first and second trimester screening for Down syndrome was reviewed by combining the Protos database to the screening data collected by the Clinical Biochemistry Laboratory at Hull Royal Infirmary, Hull.
Results Women booked into prenatal care significantly earlier when referred by GP in comparison to direct access with a significant difference in screening uptake of 49.5 and 42.7%, respectively. The ratio of uptake between first and second trimester screening was not significantly different.
Conclusions Further research on the new direct access method of referral is required, as it may have a role in the uptake of prenatal screening for Down syndrome. More time is needed to show a definitive effect.
TÍTULO / TITLE:
- The provision of information and informed decision-making on prenatal screening for Down syndrome: A questionnaire- and register-based survey in a non-selected population.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Patient Educ Couns. 2011 Oct 24.
AUTORES / AUTHORS:
- Schoonen M; Wildschut H; Essink-Bot ML; Peters I; Steegers E; de Koning H
INSTITUCIÓN / INSTITUTION:
- Department of Public Health, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands; Department of Obstetrics and Gynaecology, Division of Obstetrics and Prenatal Medicine, Erasmus MC, University Medical Centre Rotterda
RESUMEN / SUMMARY:
- OBJECTIVE: Evaluating the information provision procedure about prenatal screening for Down syndrome, using informed decision-making as a quality-indicator. METHODS: Questionnaire- and register-based surveys. Midwives associated with 59 midwifery practices completed process data for 6435 pregnancies. Pregnant women (n=510) completed questionnaires on informed decision-making. RESULTS: Midwives offered information to 98.5% of women; 62.6% of them wished to receive information, of these, 81.9% actually received information. Decision-relevant knowledge was adequate in 89.0% of responding women. Knowledge about Down syndrome was less adequate than knowledge about the screening program. Participants in the screening program had higher knowledge scores on Down syndrome and on the screening program than non-participants. Of the women who intended to participate (35.8%), 3.1% had inadequate knowledge. A total of 75.5% of women made an informed decision; 94.3% of women participating in the screening program, and 64.9% of women not participating. CONCLUSION: This quality assurance study showed high levels of informed decision-making and a relatively low participation rate in the national screening program for Down syndrome in the Netherlands. Knowledge of the Down syndrome condition needs to be improved. PRACTICE IMPLICATIONS: This evaluation may serve as a pilot study for quality monitoring studies at a national level.
TÍTULO / TITLE:
- Diagnostic Accuracy of Noninvasive Detection of Fetal Trisomy 21 in Maternal Blood: A Systematic Review.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Fetal Diagn Ther. 2011 Nov 17.
AUTORES / AUTHORS:
- Verweij EJ; van den Oever JM; de Boer MA; Boon EM; Oepkes D
INSTITUCIÓN / INSTITUTION:
- Department of Obstetrics, Leiden University Medical Centre, Leiden, The Netherlands.
RESUMEN / SUMMARY:
- Background: Both pregnant women and providers of obstetric care are aware of the rapid advances in noninvasive prenatal diagnosis (NIPD) of fetal trisomies, and appear to look forward to its clinical introduction. Objectives: To review and critically assess the published literature on diagnostic accuracy of NIPD using cell-free fetal DNA or RNA in maternal blood to detect fetal trisomy 21. Method: An electronic search was performed in MEDLINE, EMBASE and the Cochrane library (1997 to April 2011). Of a total of 201 citations, 9 studies were eligible for full-text analysis by 2 independent reviewers, using the QUADAS tool. Results: Two of the 9 analyzed studies complied with the criteria of the QUADAS tool. Combining the selected 2 studies, with a total of 681 pregnancies included, overall sensitivity was 125/125 (100%, 95% CI 97.5-100%) and specificity 552/556 (99.3%, 95% CI 98.7-99.3%). Conclusions: NIPD of fetal trisomy 21, using fetal nucleic acids in maternal plasma, appears to have a high diagnostic accuracy. Large-scale prospective studies are awaited before implementation in clinical practice.
TÍTULO / TITLE:
- Performance of first-trimester combined test for Down syndrome in different maternal age groups: reason for adjustments in screening policy?
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Prenat Diagn. 2011 Dec;31(13):1241-5. doi: 10.1002/pd.2873. Epub 2011 Oct 24.
AUTORES / AUTHORS:
- Engels MA; Heijboer AC; Blankenstein MA; van Vugt JM
INSTITUCIÓN / INSTITUTION:
- Department of Obstetrics and Gynecology, VU University Medical Center, Amsterdam, The Netherlands.
m.engels@vumc.nl
RESUMEN / SUMMARY:
- OBJECTIVE: To evaluate the performance of the first-trimester combined test (FCT) in different maternal age groups and to discuss whether adjustments in screening policies should be made. METHODS: In this retrospective study data (n = 26 274) from a fetal medicine center on FCT (maternal age, fetal NT, free beta-human chorionic gonadotrophin, pregnancy-associated plasma protein-A) were studied. RESULTS: 70.6% of cases was <36 years and 43% of the Down syndrome (DS) cases were detected in this age group. For women <36 years and advanced maternal age (AMA) women (>/=36 years) detection rate (DR) and false positive rate (FPR) were 94.5% and 4.1%, and 95.8% and 13.0%, respectively (cut-off 1:200). Lowering the cut-off showed an improved balance in DR and FPR. With increasing maternal age FPR and DR increased and odds of being affected given a positive result (OAPR) decreased. CONCLUSION: FCT is effective in women <36 and >/=36 years. The balance between FPR and DR is more favourable in women <36 years with comparable OAPR. Although FPR increases with increasing maternal age, performance of FCT in AMA women is more effective than screening based on maternal age alone. Lowering the cut-off to 1:100 in AMA women is suggested to improve screening performance. Routinely offering diagnostic testing to AMA women as a screening policy for the detection of DS seems not reasonable. Copyright © 2011 John Wiley & Sons, Ltd.
TÍTULO / TITLE:
- Subtle ultrasonographic appearance of Down’s syndrome: a case report of prenatal diagnosis of isolated simple fetal syndactyly.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Clin Exp Obstet Gynecol. 2011;38(3):280-2.
AUTORES / AUTHORS:
- Di Luigi G; D’Emilio I; Marcozzi A; Gennaccaro L; Palermo P; Carta G
INSTITUCIÓN / INSTITUTION:
- Department of Obstetrics and Gynecology, University of L’Aquila, Italy.
giandiluigi@hotmail.com
RESUMEN / SUMMARY:
- Syndactyly is an unusual condition in humans where two or more digits are fused together. In our report we present a case of prenatal diagnosis of simple, complete, bilateral syndactyly as the only ultrasonographic anomaly in a fetus with Down’s syndrome. The mother, a 30-year-old, gravida 2, was referred to our hospital with an abnormal triple-test at 17 weeks of gestation, with a final biochemical risk for Down’s syndrome more than 1:50. In this pregnancy neither the NT test nor early morphological exam showed typical findings of any chromosomal disorder. The patient underwent amniocentesis. We performed an accurate second level scan at 21 weeks while waiting for genetic results, and we suspected simple, complete, bilateral syndactyly between the third and fourth finger of the hands (rapper sign). The result of the invasive test was 47,XY,+21 and the mother opted for termination of pregnancy; the baby showed simple, complete, bilateral syndactyly of the two digits as suspected during sonography. In presenting our case report, we want to stress the importance of the accuracy of observation of fetal hand morphology, attitude, movements and reactivity. When the observation of fetal hands is not satisfactory (e.g., when the fetus does not open the fist), we recommend external stimulation of fetal reactivity through probe movements on the maternal abdomen (dynamic scan). This approach can make the identification of subtle hand anomalies easier and improve the detection rate of both structural and genetic fetal disorders.
QUALITY OF LIFE - CALIDAD DE VIDA
TÍTULO / TITLE:
- Belief in a just world and subjective well-being: Mothers of normal and Down syndrome children.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Int J Psychol. 2010 Dec 1;45(6):461-8.
AUTORES / AUTHORS:
- Fatima I; Suhail K
INSTITUCIÓN / INSTITUTION:
- a Government College University , Lahore , Pakistan.
RESUMEN / SUMMARY:
- A cross-sectional study examined the relationship between three dimensions of the belief in a just world and the subjective well-being of Pakistani mothers of normal and Down syndrome children (n = 100 each). Personal belief in a just world and two dimensions of general belief in a just world-beliefs in immanent and ultimate justice-were assessed along with four dimensions of subjective well-being: life satisfaction, mood, state anxiety, and depression. It was hypothesized that personal belief in a just world and belief in ultimate justice would be positively associated with subjective well-being for both groups of mothers. Results were obtained through moderated regression analyses. In line with our hypothesis, personal belief in a just world positively predicted life satisfaction and mood level and negatively predicted state anxiety and depression in both groups of mothers. In contrast, beliefs in immanent and ultimate justice were not consistently adaptive. In particular, the more the mothers of a Down syndrome child believed in immanent justice, the more anxiety they experienced the previous week. In addition, the more the mothers of normal children believed in ultimate justice, the more they experienced anxiety. The pattern of results persisted when controlled for mothers’ education, the total number of their children and marital status. Overall, the results support the role of personal belief in a just world as a personal resource in adverse as well as normal life circumstances.
TÍTULO / TITLE:
- Personality Dimensions, Religious Tendencies and Coping Strategies as Predictors of General Health in Iranian Mothers of Children With Intellectual Disability: A Comparison With Mothers of Typically D
RESUMEN / SUMMARY:
REVISTA / JOURNAL:
- JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES 24 (6): 573-582 10.1111/j.1468-3148.2011.00639.x NOV 2011
AUTORES / AUTHORS:
- Mirsaleh, YR; Rezai, H; Khabaz, M; Ardekani, IA; Abdi, K
RESUMEN / SUMMARY:
- Background Challenges related to rearing children with intellectual disability (ID) may cause mothers of these children to have mental health status problems.
Method A total of 124 mothers who had a child with ID and 124 mothers of typically developing children were selected using random sampling. Data were collected using General health questionnaire, NEO five-factor inventory, islamic religiosity scale and WOCQ questionnaires.
Results Mothers of children with ID had lower general health than mothers of typically developing children. Neuroticism predicted the general health of the two groups of mothers. Among religious tendencies, religiosity and religious disorganization predicted the general health of mothers of children with ID and of mothers of typically developing children, respectively. Coping strategies did not predict general health in any group of mothers.
Conclusions Compared to personality dimensions and coping strategies, religiosity seems to be a good predictor of general health of mothers with children with ID in Iran.
TÍTULO / TITLE:
- Public awareness, attitudes and beliefs regarding intellectual disability: A systematic review
RESUMEN / SUMMARY:
REVISTA / JOURNAL:
- RESEARCH IN DEVELOPMENTAL DISABILITIES 32 (6): 2164-2182 10.1016/j.ridd.2011.07.005 NOV-DEC 2011
AUTORES / AUTHORS:
- Scior, K
RESUMEN / SUMMARY:
- The general public`s responses to people with intellectual disabilities influence the likely success or failure of policies aimed at increasing their social inclusion. The present paper provides a review of general population based research into awareness, attitudes and beliefs regarding intellectual disability published in English between 1990 and mid-2011. An electronic search using PsycINFO and Web of Science plus a hand search of the literature was completed. Most of the 75 studies identified consisted of descriptive surveys of attitudes. They tend to conclude that age, educational attainment and prior contact with someone with an intellectual disability predict attitudes, while the effect of gender is inconsistent. Eight studies examined lay knowledge about intellectual disability and beliefs about its causation in a range of cultural contexts. The impact of interventions designed to improve attitudes or awareness was examined by 12 studies. The evidence is limited by t! he fact that it is mostly based on relatively small unrepresentative samples and cross-sectional designs. It is concluded that overall, high quality research into general population attitudes to intellectual disability is limited. Public knowledge of intellectual disability and causal beliefs are particularly under-researched areas. There is a notable absence of well designed evaluations of efforts to reduce misconceptions about intellectual disability and tackle negative attitudes. Areas for future research are noted, including the need for well designed studies that consider awareness, attitudes and beliefs in relation to stigma theory.
TÍTULO / TITLE:
- A neuroimaging proof of principle study of Down’s syndrome and dementia: ethical and methodological challenges in intrusive research.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- J Intellect Disabil Res. 2011 Nov 2. doi: 10.1111/j.1365-2788.2011.01495.x.
AUTORES / AUTHORS:
- d’Abrera JC; Holland AJ; Landt J; Stocks-Gee G; Zaman SH
INSTITUCIÓN / INSTITUTION:
- Department of Psychiatry, University of Cambridge, Cambridge, UK Department of Psychology, University of Cambridge, Cambridge, UK Department of Neurosciences, University of Cambridge, Cambridge, UK.
RESUMEN / SUMMARY:
- Background Research into specific illnesses and the development of new treatments may only become possible as new technologies become available. When used for research, such technologies may best be described as ‘intrusive’, in that they require a considerable willingness and commitment on the part of the participants. This has increasingly been the case for brain disorders and illnesses where novel neuroimaging techniques, often combined with clinical and psychological assessments, have the potential to result in new understanding. People with intellectual disabilities (ID) have a history of under-representation as participants in research using such technologies and are therefore at risk of not receiving equal access to state-of-the-art treatments. We propose that ‘intrusive’ biomedical research is both possible and ethical in ID, and explore some of the methodological challenges by reference to a recent proof of principle study that used a relatively new ligand-based brain scanning technique in a group of volunteers with Down’s syndrome. Methods Five overlapping stages of the study methodology were identified and evaluated for their acceptability to volunteers with mild to moderate ID through discussion, reflection, and analysis of structured feedback in the context of key policy documents, ethical guidelines and relevant legislation. Results Identification of key ethical and methodological challenges from reflective practice and participant feedback facilitated the emergence of strategies that permitted continual refinement of the study design. Important areas considered included (1) being clear about the purpose and scientific justification for the study; (2) reconciling the potential risks and benefits with relevant ethical guidelines and legislation; (3) identifying and implementing effective recruitment strategies; (4) optimising and assessing capacity to consent; and (5) making the ‘intrusive’ procedures as acceptable as possible to people with ID. Conclusion We were able to demonstrate that a proof of principle study incorporating a novel brain scanning technique in a group of volunteers with ID was feasible, safe and well tolerated, despite the vulnerabilities of the study cohort and the intrusive nature of the research. We consider the study within an ethical and historical discourse about the principles that define current ‘best practice’ in ID research and propose a number of key recommendations for making intrusive research acceptable in people with ID.
TÍTULO / TITLE:
- Perioperative care of the pediatric patient with down syndrome.
RESUMEN / SUMMARY:
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REVISTA / JOURNAL:
- AORN J. 2011 Dec;94(6):606-17.
AUTORES / AUTHORS:
- Tonge A
RESUMEN / SUMMARY:
-
TÍTULO / TITLE:
- Palliative care for patients with Down syndrome -243.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- J Palliat Med. 2011 Oct;14(10):1174-5.
AUTORES / AUTHORS:
- Loitman JE; Gazelle G
INSTITUCIÓN / INSTITUTION:
- Washington University School of Medicine, St Louis, MO 63132, USA.
loitmanj@gmail.com
RESUMEN / SUMMARY:
-
TÍTULO / TITLE:
- Perioperative care of the pediatric patient with down syndrome.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- AORN J. 2011 Dec;94(6):606-17.
AUTORES / AUTHORS:
- Tonge A
RESUMEN / SUMMARY:
-
URINARY/RENAL - URINARIO/RENAL
TÍTULO / TITLE:
- Biomarkers of age effect on renal function in Down syndrome.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Biomarkers. 2011 Dec;16(8):679-85. Epub 2011 Oct 24.
AUTORES / AUTHORS:
- Guzman R; Campos C; Lopez-Fernandez E; Casado A
INSTITUCIÓN / INSTITUTION:
- Departamento de Medicina Celular y Molecular, Centro de Investigaciones Biologicas (CSIC) , Madrid , España.
RESUMEN / SUMMARY:
- Objective: To assess differences in kidney function between Down syndrome (DS) individuals and a control group related to aging. Methods: Creatinine (Cr) and specific gravity (SG) were assessed by spectrophotometric and refractometric assays in urine samples of 103 individuals with DS and 82 age-matched controls. Results: Significantly lower levels of Cr and SG were found in DS after puberty. Significant correlations were found between SG and age as well as between Cr and SG in DS and controls (p
EDUCATION - EDUCACIÓN
TÍTULO / TITLE:
- Maternal functional speech to children: A comparison of autism spectrum disorder, Down syndrome, and typical development.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Res Dev Disabil. 2011 Nov 23;33(2):506-517.
AUTORES / AUTHORS:
- Venuti P; de Falco S; Esposito G; Zaninelli M; Bornstein MH
INSTITUCIÓN / INSTITUTION:
- Department of Cognitive Science and Education, University of Trento, Italy
RESUMEN / SUMMARY:
- Children with developmental disabilities benefit from their language environment as much as, or even more than, typically developing (TD) children, but maternal language directed to developmentally delayed children is an underinvestigated topic. The purposes of the present study were to compare maternal functional language directed to children with two developmental disabilities - autism spectrum disorder (ASD) and Down syndrome (DS) - with TD children and to investigate relations of maternal functional language with child language skills. Participants were 60 mothers and their children with TD (n=20), DS (n=20), or ASD (n=20). Children’s mean developmental age was 24.77 months (SD=8.47) and did not differ across the groups. Mother and child speech were studied during naturalistic play. We found (a) similarities in maternal functional language directed to the two groups of children with developmental disabilities compared to that directed to TD children and (b) a positive association between subcategories of information-salient speech and child mean length of utterance in TD dyads only. The clinical and developmental implications of these findings are discussed.
TÍTULO / TITLE:
- An EPG analysis of /t/ in young people with Down’s syndrome.
RESUMEN / SUMMARY:
-
Enlace al Resumen
REVISTA / JOURNAL:
- Clin Linguist Phon. 2011 Nov;25(11-12):1022-7.
AUTORES / AUTHORS:
- Timmins C; Hardcastle WJ; Wood S; Cleland J
INSTITUCIÓN / INSTITUTION:
- Clinical Audiology, Speech and Language Research Centre, Queen Margaret University , Musselburgh, East Lothian , UK.
RESUMEN / SUMMARY:
- Many studies have pointed to impaired speech intelligibility in young people with Down’s syndrome (DS). Some have attributed these problems to delayed phonological development, while others have identified disordered speech patterns, which could be related to a dyspraxic element in their speech. This study uses electropalatography (EPG) to examine the speech of 25 young people with DS, focusing on their production of the obstruent /t/. For the EPG analysis, participants produced the target obstruent in the word ‘toe’, repeated 10 times. An investigative analysis was carried out. A new descriptive taxonomy of EPG error patterns was developed and these errors were related to perceptually based transcriptions. The measures are discussed in relation to current knowledge of the anatomical and physiological characteristics of DS.
TÍTULO / TITLE:
- Macrostructural Narrative Language of Adolescents and Young Adults with Down Syndrome or Fragile X Syndrome.
RESUMEN / SUMMARY:
-
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REVISTA / JOURNAL:
- Am J Speech Lang Pathol. 2011 Nov 2.
AUTORES / AUTHORS:
- Finestack LH; Palmer M; Abbeduto L
INSTITUCIÓN / INSTITUTION:
- Department of Speech-Language-Hearing Sciences, University of Minnesota.
RESUMEN / SUMMARY:
- PURPOSE: To gain a better understanding of language abilities, the expressive macrostructural narrative language abilities of verbally expressive adolescents and young adults with Down syndrome (DS) and those with fragile X syndrome (FXS) were examined. METHOD: The authors evaluated 24 adolescents and young adults with DS, 12 male adolescents and young adults with FXS, and 21 younger children with typical development (TD). Narrative samples were assessed at the macrostructural level using the Narrative Scoring Scheme (NSS; Heilmann, Miller, Nockerts, & Dunaway, 2010). Three group comparisons were made using: (a) the full sample matched on nonverbal mental age, (b) a subset of the participants individually matched on nonverbal mental age, and (c) a subset of participants individually matched on mean length of utterance. RESULTS: Study analyses revealed that the DS and FXS groups significantly outperformed the TD group on a limited number of NSS measures. No significant differences emerged between the DS and FXS groups. CONCLUSIONS: Study results suggest that some aspects of macrostructural narrative language may be relative strengths for adolescents and young adults with DS and those with FXS. These results can be used to create a more nuanced and informed approach to assessment and intervention for these populations.
TÍTULO / TITLE:
- Behavioral phenotypes of genetic syndromes with intellectual disability: Comparison of adaptive profiles
RESUMEN / SUMMARY:
REVISTA / JOURNAL:
- PSYCHIATRY RESEARCH 189 (3): 440-445 10.1016/j.psychres.2011.03.015 OCT 30 2011
AUTORES / AUTHORS:
- Di Nuovo, S; Buono, S
RESUMEN / SUMMARY:
- The study of distinctive and consistent behaviors in the most common genetic syndromes with intellectual disability is useful to explain abnormalities or associated psychiatric disorders. The behavioral phenotypes revealed outcomes totally or partially specific for each syndrome. The aim of our study was to compare similarities and differences in the adaptive profiles of the five most frequent genetic syndromes, i.e. Down syndrome, Williams syndrome, Angelman syndrome, Prader-Willi syndrome, and Fragile-X syndrome (fully mutated), taking into account the relation with chronological age and the overall IQ level. The research was carried out using the Vineland Adaptive Behavior Scale (beside the Wechsler Intelligence scales to obtain IQ) with a sample of 181 persons (107 males and 74 females) showing genetic syndromes and mental retardation. Syndrome-based groups were matched for chronological age and mental age (excludin! g the Angelman group, presenting with severe mental retardation). Similarities and differences in the adaptive profiles are described, relating them to IQs and maladaptive behaviors. The results might be useful in obtaining a global index of adjustment for the assessment of intellectual disability level as well as for educational guidance and rehabilitative plans.
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