Intronic RET gene variants in Down syndrome–associated Hirschsprung disease in an African population

2012 ◽  
Vol 47 (2) ◽  
pp. 299-302 ◽  
Author(s):  
Samuel W. Moore ◽  
Monique G. Zaahl
Keyword(s):  
Down Syndrome ◽  
Hirschsprung Disease ◽  
African Population ◽  
Gene Variants ◽  
Ret Gene

CASE REPORT: RARE FORM OF HIRSCHPRUNG’S DISEASE

2020 ◽  
Vol 30 (5) ◽  
pp. 82-84
Author(s):  
Ilja Skalskis
Keyword(s):  
Down Syndrome ◽  
Case Report ◽  
Clinical Symptoms ◽  
Hirschsprung Disease ◽  
Distal Colon ◽  
Total Colonic Aganglionosis ◽  
Sphincter Function ◽  
Anal Sphincter Function ◽  
History Of ◽  
High Index Of Suspicion

Hirschsprung disease (HD) is a developmental disorder characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction. Incidence of total colonic aganglionosis (TCA) is 1 in 500 000 and it accounts for 5-10% of all cases of HD. HD should be suspected in patients with typical clinical symptoms and a high index of suspicion is appropriate for infants with a predisposing condition such as Down Syndrome (DS), or for those with a family history of HD. The treatment of choice for HD is surgical, such as Swenson, Soave, and Duhamel procedures. The goals are to resect the affected segment of the colon, bring the normal ganglionic bowel down close to the anus, and preserve internal anal sphincter function. We present a clinical case report of TCA in a child with Down syndrome (DS) and review of literature.

Down Syndrome: A Literature Review

2021 ◽  
pp. 328-331
Author(s):  
Rutika, B. Maske
Keyword(s):  
Down Syndrome ◽  
Literature Review ◽  
Congenital Heart ◽  
Literature Search ◽  
Social Cost ◽  
Heart Defects ◽  
Hirschsprung Disease ◽  
Review Article ◽  
Special Focus ◽  
Variable Extent

The purpose of this review is to provide the latest information on Down syndrome. The author conducted a literature search of available sources describing the issue of down syndrome with special focus on syndrome and made a comparison and evaluation of relevant findings.The results of this review indicate that Down syndrome (DS) is one of the commonest disorders with huge medical and social cost. DS is associated with number of phenotypes including congenital heart defects, leukemia, Alzeihmer’s disease, Hirschsprung disease etc. DS individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge. In the present review article, we emphasize an overview of DS, DS-associated phenotypes diagnosis and management of the disease.

scholarly journals Duodenal Atresia and Hirschsprung Disease in a Patient with Down Syndrome

2011 ◽  
Vol 8 (2) ◽  
Author(s):  
Mustafa Koplay ◽  
Tamer Sekmenli ◽  
Ulas Alabalik ◽  
Ali Sami Kivrak
Keyword(s):  
Down Syndrome ◽  
Hirschsprung Disease ◽  
Duodenal Atresia

A Triple Threat: Down Syndrome, Congenital Central Hypoventilation Syndrome, and Hirschsprung Disease

PEDIATRICS ◽  
2012 ◽  
Vol 130 (5) ◽  
pp. e1382-e1384 ◽  
Author(s):  
K. L. Jones ◽  
E. K. Pivnick ◽  
S. Hines-Dowell ◽  
D. E. Weese-Mayer ◽  
E. M. Berry-Kravis ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Hirschsprung Disease ◽  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Triple Threat

scholarly journals No significant impact of IFN-γ pathway gene variants on tuberculosis susceptibility in a West African population

2015 ◽  
Vol 24 (5) ◽  
pp. 748-755 ◽  
Author(s):  
Christian G Meyer ◽  
Christopher D Intemann ◽  
Birgit Förster ◽  
Ellis Owusu-Dabo ◽  
Andre Franke ◽  
...  
Keyword(s):  
West African ◽  
African Population ◽  
Gene Variants ◽  
Pathway Gene ◽  
Ifn Γ ◽  
Tuberculosis Susceptibility

scholarly journals Interaction between a chromosome 10RETenhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association

2009 ◽  
Vol 30 (5) ◽  
pp. 771-775 ◽  
Author(s):  
Stacey Arnold ◽  
Anna Pelet ◽  
Jeanne Amiel ◽  
Salud Borrego ◽  
Robert Hofstra ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Hirschsprung Disease ◽  
Disease Association ◽  
Chromosome 21

scholarly journals A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus

2000 ◽  
Vol 97 (1) ◽  
pp. 268-273 ◽  
Author(s):  
S. Bolk ◽  
A. Pelet ◽  
R. M. W. Hofstra ◽  
M. Angrist ◽  
R. Salomon ◽  
...  
Keyword(s):  
Phenotypic Expression ◽  
Hirschsprung Disease ◽  
Human Model ◽  
Ret Gene

Unmet Visual Needs of Children with down Syndrome in an African Population: Implications for Visual and Cognitive Development

2012 ◽  
Vol 23 (3) ◽  
pp. 394-398 ◽  
Author(s):  
Ada E. Aghaji ◽  
Linda Lawrence ◽  
Ifeoma Ezegwui ◽  
Ernest Onwasigwe ◽  
Onochie Okoye ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Cognitive Development ◽  
African Population ◽  
Children With Down Syndrome
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