نتایج جستجو برای: hirschsprung

تعداد نتایج: 1258  

Journal: :The Turkish journal of pediatrics 2009
Makbule Eren Mustafa Celik Sibel Kinik Irfan Serdar Arda

Hirschsprung disease, the colonization defect of neural crest cells through the colon, is one of the reasons for functional obstruction in neonates. Furthermore, hypothyroidism has been known to be one of the causes of bowel hypomotility and pseudoobstruction. These two diseases are generally considered in the differential diagnosis. Although defective thyroid function has been found to be resp...

Journal: :American journal of physiology. Gastrointestinal and liver physiology 2017
Lincon A Stamp

Cell therapeutic approaches to treat a range of congenital and degenerative neuropathies are under intense investigation. There have been recent significant advancements in the development of cell therapy to treat disorders of the enteric nervous system (ENS), enteric neuropathies. These advances include the efficient generation of enteric neural progenitors from pluripotent stem cells and the ...

Journal: :Pakistan postgraduate medical institute 2021

Abstract 
 Young patients presenting with chronic constipation and failure to thrive, should be promptly investigated looked upon for late presentation of congenital diseases like Hirschsprung disease (HD). This case is reported highlight rare adult HD who presented emergency department complaints lower abdominal pain, flatulence lethargy. Considering the findings CT scan suspicion Adult w...

Journal: :medical journal of islamic republic of iran 0
kobra shiasi arani research center for biochemistry and nutrition in metabolic disorders, kashan university of medical sciences, kashan, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی کاشان (kashan university of medical sciences)سازمان های دیگر: research center for biochemistry and nutrition in metabolic disorders

cartilage hair hypoplasia (chh), is a rare cause of metaphyseal chondrodysplasia and short stature. other features included hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (hirschsprung disease, celiac, …) and increased risk of cancer. the disease is an autosomal recessive disorder and previously has not been reported in iran. we report a 9-year-old boy diagnosed as carti...

Journal: :The Journal of clinical investigation 2013
Jonathan I Lake Olga A Tusheva Brittany L Graham Robert O Heuckeroth

Hirschsprung disease (HSCR) is a partially penetrant oligogenic birth defect that occurs when enteric nervous system (ENS) precursors fail to colonize the distal bowel during early pregnancy. Genetic defects underlie HSCR, but much of the variability in the occurrence and severity of the birth defect remain unexplained. We hypothesized that nongenetic factors might contribute to disease develop...

Journal: :American journal of human genetics 2007
Nadege Bondurand Florence Dastot-Le Moal Laure Stanchina Nathalie Collot Viviane Baral Sandrine Marlin Tania Attie-Bitach Irina Giurgea Laurent Skopinski William Reardon Annick Toutain Pierre Sarda Anis Echaieb Marilyn Lackmy-Port-Lis Renaud Touraine Jeanne Amiel Michel Goossens Veronique Pingault

Waardenburg syndrome (WS) is an auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair and skin. Depending on additional symptoms, WS is classified into four subtypes, WS1-WS4. Absence of additional features characterizes WS2. The association of facial dysmorphic features defines WS1 and WS3, whereas the association wi...

Journal: :Clinics in Colon and Rectal Surgery 2018

2014
Valentina Rossi Stefano Avanzini Manuela Mosconi Girolamo Mattioli Piero Buffa Vincenzo Jasonni Alessio Pini Prato

Hirschsprung-associated enterocolitis is an infrequent inborn abnormality of the enteric nervous system. Characteristics are the absence of ganglia in both submucosal and myenteric plexuses of the hindgut with a variable proximal extension. This review acknowledge all patients and families regarding the possibility of HAEC occurrence either preand postoperatively and to make them prepare deal w...

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