Results 31 to 40 of about 5,824 (184)

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Oral and dental status in children with intestinal failure: A descriptive cross‐sectional study

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Background Children with intestinal failure often experience feeding difficulties and complex daily care needs, yet their oral and dental health remains underexplored. We aimed to describe oral and dental health characteristics in pediatric intestinal failure.
Anat Guz‐Mark, Dror S. Shouval, Raanan Shamir, Esti Davidovich   +3 more
wiley   +1 more source

Quality of life for pediatric patients with short bowel syndrome‐associated intestinal failure treated with teduglutide

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives The complex care needs of pediatric patients with short bowel syndrome‐associated intestinal failure (SBS‐IF) can negatively impact the health‐related quality of life (HRQoL) of patients and their caregivers. We assessed the impact of teduglutide on HRQoL of pediatric patients with SBS‐IF.
Danielle Wendel, Paul W. Wales, Samuel Kocoshis, Robert Venick, Beth Carter, Valeria Cohran, Cheney Matthews, Bram P. Raphael, Ian Robinson, Susan Hill   +9 more
wiley   +1 more source

Experiências de mães de filhos com doença de hirschsprung: subsídios para o cuidado de enfermagem Experiencias de madres en la atención de los hijos con Enfermedad de Hirschsprung: contribución para la atención de enfermería Experiences of mothers in care to children with Hirschsprung Disease: supports for nursing care

Escola Anna Nery, 2009
O estudo tem por objetivo conhecer as experiências de mães de filhos com doenças de Hirschsprung atendidos em um hospital escola, em um município no interior do estado de São Paulo. Trata-se de um estudo descritivo e exploratório, com análise qualitativa
Maria José Gilbert, Débora Falleiros de Mello, Regina Aparecida Garcia de Lima   +2 more
doaj   +1 more source

Outcomes and adverse effects of teduglutide treatment with periodic withdrawal in pediatric short bowel patients

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives We evaluated the efficacy and safety of teduglutide in a real‐world cohort in which national reimbursement policies required treatment interruptions. The primary outcomes were reduction in parenteral support (PS) and treatment‐related adverse effects, and the secondary outcome was the impact of the mandated withdrawal periods ...
Riikka Gunnar, Annika Mutanen, Mikko P. Pakarinen, Laura Merras‐Salmio   +3 more
wiley   +1 more source

Hirschsprung disease and hepatoblastoma: case report of a rare association

São Paulo Medical Journal
CONTEXT: Hirschsprung disease is a developmental disorder of the enteric nervous system that is characterized by absence of ganglion cells in the distal intestine, and it occurs in approximately 1 in every 500,000 live births.
Raquel Borges Pinto, Ana Regina Lima Ramos, Ariane Nadia Backes, Beatriz John dos Santos, Valentina Oliveira Provenzi, Mário Rafael Carbonera, Maria Lúcia Roenick, Pedro Paulo Albino dos Santos, Fabrizia Falhauber, Meriene Viquetti de Souza, João Vicente Bassols, Osvaldo Artigalás   +11 more
doaj   +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

Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report

Italian Journal of Pediatrics, 2020
Background Hirschsprung disease, the most important congenital colonic dysmotility in children results from neural crest migration, differentiation, proliferation, or apoptosis defects where the rearranged during transfection (RET)-Protooncogene pathway ...
Ingrid Anne Mandy Schierz, Marcello Cimador, Mario Giuffrè, Claudia Maria Aiello, Vincenzo Antona, Giovanni Corsello, Ettore Piro   +6 more
doaj   +1 more source

Alterations of Gut Bacteria in Hirschsprung Disease and Hirschsprung-Associated Enterocolitis

Microorganisms, 2021
Hirschsprung-associated enterocolitis (HAEC) is a common life-threatening complication of Hirschsprung disease (HSCR). It has been proposed that gut microbiota, which have an essential role in gut-homeostasis, are associated with HAEC.
Sireekarn Chantakhow, Jiraporn Khorana, Kanokkan Tepmalai, Nonglak Boonchooduang, Nipon Chattipakorn, Siriporn C. Chattipakorn   +5 more
doaj   +1 more source

Updated ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease 2025

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives To revise the 2018 European Reference Network for rare Inherited and Congenital Digestive and Gastrointestinal Anomalies (ERNICA) clinical guideline for the management of rectosigmoid Hirschsprung's disease (HSCR) based on new evidence and evolving clinical priorities, ensuring continued relevance, trustworthiness, and consistency ...
Daniel Rossi, Willemijn Irvine, Anna Löf Granström, Annika Mutanen, Roel Bakx, Kristin Bjørnland, Duccio Cavalieri, Piotr Czauderna, Anne Dariel, Mark Ellebæk, Francesco Fascetti Leon, Fabio Fusaro, Dirk‐Jan Gloudemans, Marietta Jank, Peter Kolja Kvist, Martin Lacher, Annette Lemli, Lucas Matthyssens, Louise Montalva, Pedro Palazon, Alessio Pini Prato, Lucie Pos, Roxana Rassouli‐Kirchmeier, Konrad Reinshagen, Nagoud Schukfeh, Rony Sfeir, Olivia Spivack, Pernilla Stenström, Lovisa Telborn, Eelke Toxopeus, Alejandra Vilanova, Miriam Wilms, Rene Wijnen, Cornelius E. J. Sloots, Mikko Pakarinen, Tomas Wester   +35 more
wiley   +1 more source