Hirschsprung disease (HSCR) is the most frequent genetic cause of congenital intestinal obstruction with an incidence of 1:5000 live births. In a pathway-based epistasis analysis of data generated by genome-wide association study on HSCR, specific genotype of Patched 1 (PTCH1) has been linked to an increased risk for HSCR. The aim of the present study is to examine the contribution of genetic v...

Hirschsprung disease, or congenital megacolon, is characterized by aganglionosis of the terminal bowel, which leads to intestinal obstruction and chronic constipation. Several genes involved in the disease have been identified. In particular, haploinsufficiency of SOX10, which encodes a transcription factor, results in megacolon, often in combination with other disorders. Although Hirschsprung ...

We describe a term born boy of non-consanguineous Swiss parents with tetrahydrobiopterine (BH4)-responsive Phenylketonuria (PKU) and Hirschsprung disease with unusual neonatal presentation. The child presented with floppiness, irritability, recurrent bilious vomiting and failure to pass meconium until 32 hours after birth, resulting in the clinical suspicion of an intoxication-type metabolic di...

Denmark, officially the Kingdom of Denmark, as it is known, is a state in the Scandinavian region of Northern Europe. The estimated population is around ,5,580,413. The national language is Danish [1]. Denmark has one of the world’s highest per capita income. For 2013, Denmark is listed 15th on the Human Development Index.Danish engineers are world-leading in providing diabetes care equipment a...

a four month old male infant was referred to the pediatric clinic of afshar hospital in yazd city because of cyanosis. on physical examination, patient had central cyanosis, single second heart sound, a grade iii/vi continuous murmur in left clavicular area, abdominal distension and large sized smooth and movable abdominal mass in right upper quadrant of abdomen. transthoracic echocardiography ...

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...

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 ...

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...