DS Individuals (ds + individual)

Distribution by Scientific Domains

Selected Abstracts

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome,Hirschsprung disease association,

HUMAN MUTATION, Issue 5 2009
Stacey Arnold
Abstract Individuals with Down syndrome (DS) display a 40-fold greater risk of Hirschsprung disease (HSCR) than the general population of newborns implicating chromosome 21 in HSCR etiology. Here we demonstrate that the RET enhancer polymorphism RET+9.7 (rs2435357:C>T) at chromosome 10q11.2 is associated with HSCR in DS individuals both by transmission disequilibrium (P=0.0015) and case,control (P=0.0115) analysis of matched cases. Interestingly, the RET+9.7 T allele frequency is significantly different between individuals with DS alone (0.260.04), HSCR alone (0.610.04), and those with HSCR and DS (0.410.04), demonstrating an association and interaction between RET and chromosome 21 gene dosage. This is the first report of a genetic interaction between a common functional variant (rs2435357) and a not infrequent copy number error (chromosome 21 dosage) in two human developmental disorders. Hum Mutat 30:1,5, 2009. 2009 Wiley-Liss, Inc. [source]

The outcome of a preventive dental care programme on the prevalence of localized aggressive periodontitis in Down's syndrome individuals

M. Zigmond
Abstract Background Periodontal disease in Down's syndrome (DS) individuals develops earlier and is more rapid and extensive than in age-matched normal individuals. The present study evaluated a group of DS patients, who had been participating in a 10-year preventive dental programme, for the impact of the programme on their periodontal status. Methods Thirty DS patients (mean age 23.3 4 years) were compared with 28 age-matched healthy controls (mean age 22.8 5 years). The hygiene level, gingival condition and periodontal status (periodontal probing depth, clinical attachment level and radiographic alveolar bone loss) were determined. Results In spite of similar oral hygiene and gingival measures, DS patients, as opposed to the control ones, had a severe periodontal disease. The prevalence, extent and severity of periodontitis in the DS group were significantly greater than in the control group. The teeth most commonly and severely affected were the lower central incisors and the upper first molars. DS patients lost significantly more teeth due to periodontitis. Conclusions The clinical and radiographic picture found in the present DS group is characteristic of localized aggressive periodontitis. Within the limitations of this study, it seems that the preventive dental programme had no effect on periodontal destruction progression of localized aggressive periodontitis in DS individuals and that impaired oral hygiene plays a relatively minor role in the pathogenesis of this disease. Future controlled studies are needed to assess the effectiveness of different preventive dental programmes in preventing the progression of periodontitis in DS patients. [source]

Are Hormonal Responses to Exercise in Young Men with Down's Syndrome Related to Reduced Endurance Performance?

V-A. Bricout
The aim of the present study was to analyse whether hormonal responses could explain an exercise limitation in Down's syndrome (DS). Fourteen young men with DS (mean age 22.5 0.7 years) and 15 controls (CONT, mean age 22.5 0.3 years) participated in the study. During a treadmill submaximal incremental test, blood samples were collected for determination of hormonal and metabolic variables. Compared to CONT, DS individuals showed lower VO2max (P < 0.05), and lower duration of submaximal incremental exercise (P < 0.001). At rest, DS individuals showed greater catecholamines, insulin and leptin values (P < 0.05), but lower testosteronemia and cortisolemia (P < 0.05), compared to CONT. During submaximal incremental tests, catecholamines and cortisol were not increased, whereas the insulin concentration of DS individuals was significantly higher (P < 0.01) compared to CONT. Glycaemia increased significantly at the end of submaximal incremental test for CONT but not for DS individuals (P < 0.01). Maximal fat oxidation was lower (P < 0.01), whereas non-esterified fatty acids concentrations rose significantly during submaximal exercise in DS individuals. These results indicate an altered hormonal response to exercise in DS individuals. This endocrine profile at rest and during exercise may limit endurance performance in DS individuals. [source]

Dermatological manifestations of Down's syndrome

V. Madan
Summary Down's syndrome (DS) is associated with rare dermatological disorders and increased frequency of some common dermatoses. Owing to advances in medical care and changes in attitude, the median age of death in this population has increased to 49 years, and the life expectancy of a 1-year-old person with DS today is more than 60 years and is likely to improve. With the increase in the number of individuals with DS in the population and an increased life span, dermatologists are more likely to encounter the wide spectrum of dermatological disorders that occurs in these patients. Furthermore, new reports of possible associations are frequent in the literature. The purpose of this article is to discuss the various dermatological conditions that affect DS individuals. A brief overview is given of the new information on genetics and the immunology of DS. We also discuss the molecular mechanisms of premature ageing, to which DS individuals are prone. We review the literature and discuss the known dermatological manifestations, concentrating on recent reports. [source]