Results 61 to 70 of about 9,336,073 (253)

Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo‐obstruction: A case series

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Pediatric intestinal pseudo‐obstruction (PIPO) is a severe bowel motility disorder characterized by impaired propulsion of gastrointestinal contents without mechanical obstruction. PIPO encompasses congenital and acquired disorders, including neuropathies, myopathies, and mesenchymopathies.
Sharon Wolfson, Myra Butrviengpunt, Naomi Tjaden, Alain J. Benitez, Archana S. Kota, Jennifer Webster, Prasanna Kapavarapu, Hayat Mousa, Robert O. Heuckeroth   +8 more
wiley   +1 more source

Interrater reliability in pediatric high‐resolution anorectal manometry recordings

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives High‐resolution anorectal manometry (HR‐ARM) is a diagnostic test assessing anorectal neuromuscular function in children with constipation and/or fecal incontinence. Interrater reliability of HR‐ARM in children has not been previously studied. The aim of this study was to assess the interrater reliability of pediatric HR‐ARM studies.
Julia M. J. van der Zande, Marc A. Benninga, Bruno P. Chumpitazi, Anil Darbari, Jose M. Garza, Julie Khlevner, Samuel Nurko, Miguel Saps, Karla Vaz, Sujithra Velayuthan, Md Rejuan Haque, Carlo Di Lorenzo, Peter L. Lu   +12 more
wiley   +1 more source

Immunohistochemical evaluation of CD34, CD117, and calretinin for diagnosis of hirschsprung’s disease

Surgical and Experimental Pathology
Introduction Hirschsprung’s disease (HD) is a neurogenic intestinal disorder attributed to incomplete neural crest cell migration during fetal intestinal development, leading to an aganglionic segment of the colon and functional obstruction.
Amirhossein Ladan, Saeed Aslanabadi, Davoud Badebarin, Masoud Jamshidi, Ebrahim Farhadi, Nazila Hasanzadeh, Malihe Naghavi, Pegah Moharrami Yeganeh   +7 more
doaj   +1 more source

Case series: Joubert syndrome and eosinophilic esophagitis

JPGN Reports, EarlyView.
Abstract Joubert syndrome (JS) is a rare genetic disorder characterized by developmental abnormalities, particularly in the brainstem and cerebellar vermis, alongside multisystem manifestations such as kidney and liver anomalies, polydactyly, cleft lip or palate, and tongue defects.
Jonathon Schening, Stephanie Leon‐Paredes, Eric Chiou, Vibha Szafron, Anthony Olive, Sara Anvari   +5 more
wiley   +1 more source

Retrospective study of Hirschsprung's disease in Erbil city/Iraq during 2004–2016

Medical Journal of Babylon, 2020
Background: Hirschsprung's disease is caused by the failure of ganglion cells to migrate cephalocaudal through the neural crest during 4–12 weeks of gestation, causing an absence of ganglion cells in all or part of the colon.
Suhel Mawlud Alnajjar, Jawhar Tahir Omer, Salah Abubakir Ali   +2 more
doaj   +1 more source

Circular RNA ZNF609 functions as a competitive endogenous RNA to regulate AKT3 expression by sponging miR-150-5p in Hirschsprung's disease

OncoTarget, 2016
Research over the past decade suggested critical roles for circular RNAs in the natural growth and disease progression. However, it remains poorly defined whether the circular RNAs participate in Hirschsprung disease (HSCR).
Lei Peng, Guanglin Chen, Zhongxian Zhu, Ziyang Shen, C. Du, R. Zang, Yang Su, Hua Xie, Hongxing Li, Xiao-qun Xu, Yankai Xia, Weibing Tang   +11 more
semanticscholar   +1 more source

AMHR2 mutation in persistent Müllerian duct syndrome: A case of transverse testicular ectopia

UroPrecision, EarlyView.
Abstract Backgroud Persistent Müllerian duct syndrome (PMDS) is a rare condition characterized by the persistence of Müllerian duct structures in genotypic and phenotypic males. Case Presentation We present the case of a 4‐month‐old male with PMDS who presented with transverse testicular ectopia. The patient underwent diagnostic laparoscopic orchiopexy
Hangcheng Fu, Weijing Huang, Jeffrey T. White   +2 more
wiley   +1 more source

RET proto-oncogene and thyroid cancer [PDF]

, 2018
TheRET proto-oncogene has not only conclusively been identified as responsible for the three subtypes of the inherited cancer syndrome multiple endocrine neoplasia type 2 (MEN-2) but also shown to be involved in the molecular evolution of sporadic ...
Komminoth, Paul
core  

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Effectiveness of various surgical methods in treatment of Hirschsprung’s disease in children [PDF]

Vojnosanitetski Pregled, 2016
Background/Aim. Hirschsprung’s disease is the most common identifiable developmental disorder of the enteric nervous system, characterized by a failure of its formation in a variable segment of distal bowel.
Lukač Marija, Sinđić-Antunović Sanja, Vujović Dragana, Petronić Ivana, Nikolić Dejan, Radlović Vladimir, Krstajić Tamara, Krstić Zoran   +7 more
doaj   +1 more source