Results 41 to 50 of about 30,650 (133)

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

Aberrant Reduction of MiR-141 Increased CD47/CUL3 in Hirschsprung's Disease

Cellular Physiology and Biochemistry, 2013
Background: MiR-141 has been confirmed to be associated with various human diseases. However, whether miR-141 is involved in the pathogenesis of Hirschsprung's disease (HSCR) remains unknown.
Weibing Tang, Jingjing Qin, Junwei Tang, Hongwei Zhang, Zhigang Zhou, Bo Li, Qiming Geng, Wei Wu, Yankai Xia, Xiaoqun Xu   +9 more
doaj   +1 more source

Study on the application of optical coherence microscopy in Hirschsprung's disease

Scientific Reports, 2023
To explore the clinical application value of optical coherence microscopy (OCM) in Hirschsprung’s disease. 109 HSCR patients were recuited in a Chinese hospital from January 2018 to July 2021. All the recruited patients underwent barium enema angiography
Zhiwei Wu, Jialun Song, Xianxu Zeng, Zhenjie Cao, Xinxin Zhao, Peng Wang, Qian Ma, Huan Ma, Baojin Wang, Junpeng Du   +9 more
doaj   +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

The roles of non-coding RNAs in Hirschsprung's disease

Non-coding RNA Research
Hirschsprung's disease (HSCR) is a congenital disorder characterized by the absence of ganglion cells in the colon, leading to various intestinal complications.
Yang Yang, Xinwei Hou, Chen Wang, Qinming Chen, Yi Lu, Daiyue Yu, Kai Wu   +6 more
doaj   +1 more source

RET and PHOX2B genetic polymorphisms and Hirschsprung's disease susceptibility: a meta-analysis. [PDF]

PLoS ONE, 2014
BACKGROUND: Many publications have evaluated the correlation between RET, PHOX2B polymorphisms and Hirschsprung's disease with conflicting results. We performed this meta-analysis to clarify the association of RET, PHOX2B polymorphisms with HSCR. METHODS:
Chun-mei Liang, Dong-mei Ji, Xu Yuan, Ling-ling Ren, Juan Shen, Hai-yan Zhang   +5 more
doaj   +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

Role of MiR-215 in Hirschsprung's Disease Pathogenesis by Targeting SIGLEC-8

Cellular Physiology and Biochemistry, 2016
Background/Aims: Hirschsprung's disease (HSCR), known as aganglionosis, is an infrequent congenital gut motility disorder characterized by absence of enteric neurons. In this study, we focus on the role of the intronic miR-215 and its host gene isoleucyl-
Hao Lei, Hongxing Li, Hua Xie, Chunxia Du, Yankai Xia, Weibing Tang   +5 more
doaj   +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