Results 41 to 50 of about 3,329 (135)

Hirschsprung’s Disease in Neonates with Special Reference to Calretinin Immunohistochemistry [PDF]

Journal of Clinical and Diagnostic Research, 2015
Background: Hirschsprung’s disease is a classic example of a complex genetic disease, characterized by the lack of enteric ganglia in the submucosal and myenteric plexuses, along variable portions of the distal gut.
Biswanath Mukhopadhyay, Madhumita Mukhopadhyay, Kartic Chandra Mondal, Moumita Sengupta, Antara Paul   +4 more
doaj   +1 more source

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

Journal of Parenteral and Enteral Nutrition, Volume 50, Issue 6, Page 873-880, August 2026.
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

Transition of Care From Pediatric to Adult Services for Patients With Anorectal Malformations: A Qualitative Study

World Journal of Surgery, Volume 50, Issue 8, Page 2372-2379, August 2026.
Little is known about how patients with anorectal malformations (ARMs), their caregivers and healthcare providers perceive and experience transition from pediatric to adult care (transition of care) in low‐ and middle‐income countries. This study aimed to explore the perceptions and experiences of young adults, adolescents, their caregivers, and ...
Leila Hartford, Niveshni Maistry, Giulia Brisighelli, Juan Scribante   +3 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

Diagnostic Lag in Precision Medicine

Clinical Pharmacology &Therapeutics, EarlyView.
Petr Heneberg
wiley   +1 more source

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

Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.
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

Chronic Intestinal Failure During the Neonatal Period Related to Height at Five Years of Age

Acta Paediatrica, Volume 115, Issue 8, Page 1774-1784, August 2026.
ABSTRACT Aim To clarify if children with chronic intestinal failure during the neonatal period had a different height at 5 years of age compared to standardised Swedish growth charts. Methods This retrospective cohort study of children with chronic intestinal failure during the neonatal period in Gothenburg between 2004 and 2018.
Johanna Mårtenson, Helena Borg, Julius Kristjansson, Anton Holmgren, Nils Ekvall, Anders Elfvin   +5 more
wiley   +1 more source

Phenotypic Expansion and Molecular Implications in Recessive FUZ ‐Related Ciliopathy

Clinical Genetics, Volume 110, Issue 2, Page 236-241, August 2026.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source

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

Anorectal manometry under adequate sedation or anesthesia as a highly reliable diagnostic tool for Hirschsprung's disease in neonates and young infants: A multicenter retrospective study

Global Pediatrics
Background: Hirschsprung's disease is a congenital disorder characterized by the absence of enteric ganglion cells. The diagnostic gold standard for Hirschsprung's disease is a rectal mucosal biopsy; however, its accuracy in neonates and young infants ...
Yohei Sanmoto, Atsuki Naoe, Yudai Goto, Mikihiro Inoue, Kouji Masumoto   +4 more
doaj   +1 more source