Results 21 to 30 of about 12,267 (205)

The use of carglumic acid in hyperammonemia secondary to bacterial overgrowth in lately diagnosed Hirschsprung disease

Journal of Pediatric Surgery Case Reports, 2022
Hirschsprung disease is associated with significant bacterial proliferation and colonic dysbiosis leading to life threating hyperammonemia. In this report, we highlight the use of carglumic acid; a synthetic ammonia scavenger in hyperammonemia secondary ...
Tala Shalakhti, Yazan O. Al Zu'bi, Ahmed H. Al Sharie, Ahmad K. Abdulraheem, Amjad Al-Salhi, Ahmed N. Barakat, Eyad Altamimi   +6 more
doaj   +1 more source

A comparative study of in vitro contractility between gut tissues of Hirschsprung’s disease and other gut malformations

National Journal of Physiology, Pharmacy and Pharmacology, 2017
Background: Hirschsprung’s disease and other gut malformations commonly present with obstructive features of gut in pediatric age group. Problem of obstruction persists even after resection and anastomosis operation.
Anil Kumar Tiwari, Sanjeev K. Singh, Ratna Pandey, Phani Bhushan Singh, Shashikant C.U. Patne, Ajay N. Gangopadhyay, Maloy B Mandal   +6 more
doaj   +1 more source

Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events [PDF]

, 2011
Background RET is the major gene associated to Hirschsprung disease (HSCR) with differential contributions of its rare and common, coding and noncoding mutations to the multifactorial nature of this pathology.
Rocio Núñez-Torres, Raquel M Fernández, Manuel Jesus Acosta, Maria del Valle Enguix-Riego, Martina Marbá, Juan Carlos de Agustín, Luis Castaño, Guillermo Antiñolo, Salud Borrego   +8 more
core   +2 more sources

Ileal atresia and total colonic hirschsprung disease in a 36‐week neonate: A case report

Clinical Case Reports, 2023
Intestinal atresia and hirschsprung disease are two common causes of bowel obstruction in neonates; simultaneous occurrence is rare. This report delineates a 36‐week newborn with ileal atresia and total colonic hirschsprung who was referred to our unit ...
Khashahyar Atqiaee, Mehran Hiradfar, Mahdi Parvizi Mashhadi, Ali Samady Khanghah   +3 more
doaj   +1 more source

Fatal Toxic Megacolon in a Child of Hirschsprung Disease [PDF]

Journal of Clinical and Diagnostic Research, 2016
Hirschsprung disease (HD) in late childhood is uncommon and often undiagnosed or misdiagnosed. However, in a patient with Hirschsprung disease, of greater significance is the occurrence of life threatening enterocolitis. In its more severe form, this is
Shiwani R Garg, Pragati A Sathe, Annapurna C Taware, Ketaki M Surve   +3 more
doaj   +1 more source

Mowat-Wilson syndrome [PDF]

, 2007
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes ...
Livia Garavelli, Paola Cerruti Mainardi, DR Mowat, N Wakamatsu, V Cacheux, P Cerruti-Mainardi, C Zweier, L Garavelli, J Amiel, K Yamada, DR Mowat, M Wilson, C Zweier, P Cerruti-Mainardi, H Kääriäinen, IW Lurie, M Nagaya, L Garavelli, J McGaughran, C Zweier, MP Adam, W Heinritz, C Zweier, F Dastot-Le Moal, L Sztriha, D Horn, N Ishihara, A Rauch, M Yoneda, CY Gregory-Evans, MJV Hoffer, M Silengo, M Silengo, N Ishihara, H Dolk, JE Remacle, K Verschueren, M Watanabe, Y Shi, Y Espinosa-Parrilla, G Bassez, Y Espinosa-Parrilla, J Amiel, T Van de Putte, RB Goldberg, AS Brooks, AS Brooks, MA Parisi, E Passarge, Y Espinosa-Parrilla   +49 more
core   +2 more sources

Different Fecal Microbiota in Hirschsprung's Patients With and Without Associated Enterocolitis

Frontiers in Microbiology, 2022
Background and ObjectivesPatients with Hirschsprung's disease are at risk of developing Hirschsprung-associated enterocolitis, especially in the first 2 years of life.
Alexis P. Arnaud, Alexis P. Arnaud, Ianis Cousin, Françoise Schmitt, Thierry Petit, Benoit Parmentier, Guillaume Levard, Guillaume Podevin, Audrey Guinot, Stéphan DeNapoli, Erik Hervieux, Valérie Flaum, Philine De Vries, Gwénaëlle Randuineau, Sandrine David-Le Gall, Sylvie Buffet-Bataillon, Sylvie Buffet-Bataillon, Gaëlle Boudry   +17 more
doaj   +1 more source

Targeted next-generation sequencing on hirschsprung disease: A pilot study exploits DNA pooling [PDF]

, 2014
To adopt an efficient approach of identifying rare variants possibly related to Hirschsprung disease (HSCR), a pilot study was set up to evaluate the performance of a newly designed protocol for next generation targeted resquencing.
Bao, Jessie Yunjuan, Bui, Duc Hau, Cherny, Stacey S., Garcia-Barcelo, Maria Mercè, Gui, Hongsheng, Lok, Si, Ngo, Diem Ngoc, Nguyen, Thanh Liem, Pham, Duy Hien, Sham, Pak Chung, So, Man Ting, Tam, Paul Kwong Hang, Tang, Clara Sze Man, Tong, Amy, Tran, Anh Quynh   +14 more
core   +1 more source

THE MANAGEMENT OF CHRONIC CONSTIPATION IN PEDIATRIC PATIENTS [PDF]

Romanian Journal of Pediatrics, 2021
Introduction. Chronic constipation is a common reason for a pediatric patient to visit a doctor and we think that the number of cases is increasing but only a few patients are diagnosed with Hirschsprung disease. Aim.
Simona-Gabriela Tudorache, Daniela Dobrițoiu, Silvia Răgălie, Alin Stoica, Laura-Mihaela Ion   +4 more
doaj   +1 more source

Concurrent hirschsprung disease and esophageal atresia with tracheoesophageal fistula in a preterm neonate

Journal of Pediatric Surgery Case Reports, 2018
We describe a preterm neonate with concomitant Hirschsprung disease (HD) and esophageal atresia (EA) with tracheoesophageal fistula (TEF). This is the first report to identify the coexistence of these distinct malformations in a preterm infant. Keywords:
Rashmi Gulati, MD, Om Prakash Jha, MD, Michael M. Zayek, MD   +2 more
doaj   +1 more source