Results 51 to 60 of about 5,824 (184)

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1491-1497, July 2026.
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

Bowel Function Score in Long-Term Follow-Up for Children with Hirschsprung Disease: OASIS-Holistic Care in Hirschsprung Disease Network Position Paper

Children
Introduction: The assessment of bowel function in patients with Hirschsprung disease (HD) remains controversial, as several different bowel function scores are used in the literature and are therefore not suitable for reliable comparison.
Judith Lindert, Anders Telle Hoel, Eberhard Schmiedeke, Joe I. Curry, Stavros Loukogeorgakis, Eva Amerstorfer   +5 more
doaj   +1 more source

Hirschsprung Disease: Duhamel-Martin Experiences

Van Tıp Dergisi, 2018
INTRODUCTION: To present our experience about Martin modification of Duhamel method which is used in Hirschsprung's Disease treatment. METHODS: Between January 2012 and October 2017, patients which are diagnosed as Hirschsprung's Disease in our clinic ...
Veli Avci, Burhan Beger
doaj   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Determinants of Healthcare Costs in Individuals With Down Syndrome: A Systematic Review

Health Science Reports, Volume 9, Issue 6, June 2026.
ABSTRACT Background Individuals with Down syndrome (DS) require specialized medical follow‐up and services more frequently than the general population, resulting in substantial healthcare costs for families and health systems. This systematic review aimed to synthesize evidence on the magnitude and determinants of direct healthcare and indirect costs ...
Shiva Tolouei Rakhshan, Sarah Byford, Mahya Razimoghadam, Fardin Moradi, Shahin Soltani   +4 more
wiley   +1 more source

Sensitivity and specificity of 24-hour-delayed radiographs in demonstrating the transition zone of Hirschsprung disease

Journal of Health Science and Medical Research (JHSMR), 2010
Objective: Our aims were to determine the sensitivity and specificity of the practice of 24-hour-delayed radiographs used to demonstrate the transition zone of Hirschsprung disease.
Teeranan Laohawiriyakamol, Pramot Tanutit   +1 more
doaj  

Biovigilance in Faecal Microbiota Transplantation: 7‐Year Cohort Study and Framework for Microbiological Assessments of Infectious Adverse Events

United European Gastroenterology Journal, Volume 14, Issue 5, June 2026.
ABSTRACT Background and Aims Faecal microbiota transplantation (FMT) is increasingly used. However, no systematic approach exists to assess infectious risks after FMT, leading to underreporting. We evaluated infectious complications at the Netherlands Donor Feces Bank (NDFB) and proposed a structured biovigilance approach aligned with the EU Regulation
V. O. Chernova, J. van Prehn, B. Groenewegen, E. van Lingen, E. J. Kuijper, M. M. C. Lambregts, E. van Nood, G. Choi, M. D. Hazenberg, J. J. Keller, E. M. Terveer   +10 more
wiley   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, Volume 293, Issue 12, Page 3502-3527, June 2026.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Computational Quantification of Peristalsis in Preclinical Mouse Models Using Smartphone Videography

Neurogastroenterology &Motility, Volume 38, Issue 6, June 2026.
A new computational method and analytical pipeline for quantifying gut peristalsis in live mouse models that involves taking a video using a smartphone camera and then processing the videographic data using our custom analytical pipeline to quantify gastrointestinal motility.
Joseph C. Schindler, Gargi Vijayan Pillai, Thomas M. Raffay, Satish E. Viswanath, Puneet Seth   +4 more
wiley   +1 more source

Renal function impairment in children with intestinal failure receiving parenteral nutrition: A descriptive cohort study

Journal of Parenteral and Enteral Nutrition, Volume 50, Issue 4, Page 515-520, May 2026.
Abstract Background Children with intestinal failure are at risk for kidney dysfunction; however, the contributing factors are not well established. We aimed to describe risk factors associated with glomerular and tubular renal dysfunction in children with intestinal failure.
Amanda M. Braga da Mata, Heitor Pons Leite, Eduardo F. Hatanaka, Mariana Janiques Barcia Magalhães Fonseca, Marta Liliane de Almeida Maia, Giovana S. G. Sabio, Maria Fernanda C. de Camargo, Paulo C. Koch Nogueira   +7 more
wiley   +1 more source