Results 31 to 40 of about 8,061 (206)

Pathogenesis of Anorectal Malformations in Retinoic Acid Receptor Knockout Mice Studied by HREM

Biomedicines, 2021
Anorectal malformations (ARMs) are relatively common congenital abnormalities, but their pathogenesis is poorly understood. Previous gene knockout studies indicated that the signalling pathway mediated by the retinoic acid receptors (RAR) is instrumental
Manuel Mark, Marius Teletin, Olivia Wendling, Jean-Luc Vonesch, Betty Féret, Yann Hérault, Norbert B. Ghyselinck   +6 more
doaj   +1 more source

Defining the molecular pathologies in cloaca malformation: similarities between mouse and human

Disease Models & Mechanisms, 2014
Anorectal malformations are congenital anomalies that form a spectrum of disorders, from the most benign type with excellent functional prognosis, to very complex, such as cloaca malformation in females in which the rectum, vagina and urethra fail to ...
Laura A. Runck, Anna Method, Andrea Bischoff, Marc Levitt, Alberto Peña, Margaret H. Collins, Anita Gupta, Shiva Shanmukhappa, James M. Wells, Géraldine Guasch   +9 more
doaj   +1 more source

Assessment and significance of long-term outcomes in pediatric surgery [PDF]

, 2017
Treatment modalities for newborns with anatomical congenital anomalies have greatly improved over the past decades, with a concomitant increase in survival. This review will briefly discuss specific long-term outcomes to illustrate, which domains deserve
Gischler, S.J. (Saskia), IJsselstijn, H. (Hanneke), Tibboel, D. (Dick), Wijnen, R.M.H. (René)   +3 more
core   +4 more sources

The Role of Patient Organisations—Patients’ and Parents’ Views and Experience of Hirschsprung’s Disease

Children
In many countries, patient organisations offer advice and the exchange of experiences to Hirschsprung’s disease patients and their families. Professional treatment by experienced health care providers and the availability of life-long multidisciplinary ...
Sabine Alexander, Annette Lemli
doaj   +1 more source

Genome-wide copy number variation study in anorectal malformations [PDF]

, 2013
Anorectal malformations (ARMs, congenital obstruction of the anal opening) are among the most common birth defects requiring surgical treatment (2-5/10 000 live-births) and carry significant chronic morbidity.
Baum, L, Chan, IHY, Chang, T, Cheng, G, Cherny, SS, Chung, HY, Cui, L, Garcia-Barcelo, MM, Kwan, P, Lau, YL, Liu, JJ, Liu, X, Lui, VCH, Miao, X, Ng, CL, Ngan, ESW, Ren, YQ, Sham, PC, So, MT, Sun, LD, Sun, XB, Tam, PKH, Tang, CSM, Tang, WK, Wang, HL, Wang, RY, Wong, EHM, Wong, KKY, Xia, JL, Yang, W, Yin, XY, Yip, BHK, Yuan, ZW, Zhang, R, Zhang, SW, Zhang, XJ, Zuo, XB   +36 more
core   +1 more source

Geographic clusters of congenital anomalies in Argentina [PDF]

, 2016
Geographical clusters are defined as the occurrence of an unusual number of cases higher than expected in a given geographical area in a certain period of time.
Barbero, Pablo, Bidondo, Maria Paz, Gili, Juan Antonio, Gimenez, Lucas Gabriel, Groisman, Boris, Liascovich, Rosa, López Camelo, Jorge Santiago, Poletta, Fernando Adrián   +7 more
core   +1 more source

High-resolution anorectal manometry in children [PDF]

Clinical and Experimental Pediatrics
Anorectal manometry is one of the motility tests in children performed by pediatric gastroenterologist. It evaluates the motility function of anorectal tract.
Yogesh Waikar
doaj   +1 more source

Is a low sacral ratio associated with primary vesicoureteral reflux in children? [PDF]

, 2013
Introduction: The association of sacral anomalies with fecal incontinence and lower urinary tract dysfunction is known. The sacral ratio is proposed as a tool for evaluation of sacral development. The aim of this cross-sectional study was to evaluate the
Esfahani, S.T., Mehdizadeh, M., Rezaei-Hemami, M.   +2 more
core  

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

Spectrum of colorectal surgery operations performed in a single paediatric surgery unit in sub-Saharan Africa

African Journal of Paediatric Surgery, 2014
Background: Colorectal surgery is a budding subspecialty of paediatric surgery and typifies the advances in the management of surgical conditions in children.
Taiwo A. Lawal, Dare I. Olulana, Olakayode O. Ogundoyin   +2 more
doaj   +1 more source