Results 51 to 60 of about 4,311 (162)

Identification of Variants in Two Families With Congenital Cataract by Whole Exome Sequencing

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
We describe likely pathogenic missense variants causing congenital cataract and investigate these variants using high‐throughput gene sequencing, Sanger sequencing, bioinformatics, and computational biology tools. Our findings provide novel insights into the molecular diagnosis of congenital cataract and have important implications for genetic ...
Yazhou Huang, Xinwei Leng, Jibo Zhang, Xingxin Fang, Ting He, Lihua Zhou, Zhenkai Wu, Yuankun Wang, Dan Peng   +8 more
wiley   +1 more source

Correlation analysis of IL-11 polymorphisms and Hirschsprung disease subtype susceptibility in Southern Chinese Children

BMC Medical Genomics, 2021
Background Hirschsprung disease (HSCR) is a hereditary defect, which is characterized by the absence of enteric ganglia and is frequently concurrent with Hirschsprung-associated enterocolitis (HAEC).
Hong Zhang, Jing-Lu Zhao, Yi Zheng, Xiao-Li Xie, Li-Hua Huang, Le Li, Yun Zhu, Li-Feng Lu, Tu-Qun Hu, Wei Zhong, Qiu-Ming He   +10 more
doaj   +1 more source

Neighborhood Economic Deprivation, Hispanic Ethnic Enclaves, and Congenital Anomalies in Texas

Birth Defects Research, Volume 118, Issue 9, September 2026.
ABSTRACT Background Congenital anomalies are common, costly, and potentially life‐threatening. The impacts of structural determinants of health on risk for these conditions have scarcely been studied. We evaluated associations between residence in economically disadvantaged neighborhoods or Hispanic/Latino enclaves and congenital anomalies.
Jeremy M. Schraw, Rutu A. Rathod, Amy E. Hughes, Sandi L. Pruitt, Russell S. Kirby, Gary M. Shaw, Philip J. Lupo   +6 more
wiley   +1 more source

When CO2 sensing fails: Protective effects of sex hormones and potential mechanisms

Journal of Neuroendocrinology, Volume 38, Issue 9, September 2026.
Abstract Breathing movements driven by the brainstem rhythmogenic neural networks rely on chemosensory inputs to produce a motor output that is homeostatically adjusted to the prevailing metabolic demand. The central CO2 chemoreflex is a critical component of respiratory neural circuitry, as defects in these sensors cause hypoventilation syndromes ...
Tara A. Janes, Silvia Cardani, Silvia Pagliardini   +2 more
wiley   +1 more source

Subtypes of Enteric Neurons in Hirschsprung Disease: A Comparison of Fully Ganglionic and Transitional Zone

Neurogastroenterology &Motility, Volume 38, Issue 9, September 2026.
Neuronal subtype composition is comparable between transitional and fully ganglionic zones in children with Hirschsprung disease. Thus, our study did not support a major contribution of shifts in neuronal subtype composition to persistent postoperative bowel dysfunction. ABSTRACT Background Hirschsprung disease (HD) is characterized by aganglionosis of
C. Nebeling, M. Lee‐Theilen, E. Gradhand, F. Friedmacher, U. Rolle, Y. Braun   +5 more
wiley   +1 more source

Percutaneous Deployment of the Sinus‐SuperFlex‐DS Stent for Hybrid Stage I Palliation in Neonates Weighing ≤ 2.5 kg: A Multicenter Study

Catheterization and Cardiovascular Interventions, Volume 108, Issue 2, Page 644-652, August 1, 2026.
ABSTRACT Background Hybrid stage I palliation (HS1P) has developed as an alternative to the Norwood stage I palliation for neonates with hypoplastic left heart and related left‐sided obstructive lesions. HS1P is currently used in various clinical settings, such as single ventricle palliation, bridge to decision, bridge to biventricular repair, or ...
Johanna Hummel, Jochen Grohmann, Katarzyna Gendera, Götz Müller, Harald Bertram, Matthias Sigler, Dietmar Schranz, Christian Jux, Markus Khalil   +8 more
wiley   +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

The blood serum acetylcholinesterase levels pre- and post-resection in patients with Hirschsprung’s disease

Zdorovʹe Rebenka
Background. Hirschsprung’s disease is one of the most common neonatal obstruction diseases. The annual cases of Hirschsprung’s disease in Indonesia are approximately 1,400 live births. Its screening and diagnosis can be established using several methods,
Illona Okvita Wiyogo, IGB Adria Hariastawa, Munawaroh Fitriah, Fendy Matulatan   +3 more
doaj   +1 more source

The Hirschsprung's-multiple endocrine neoplasia connection

Clinics, 2012
The risk of patients with Hirschsprung's disease later developing multiple endocrine neoplasia remains a matter of concern. The multiple endocrine neoplasia 2-Hirschsprung's disease association has been shown to cosegregate in Hirschsprung's disease ...
Sam W. Moore, Monique Zaahl
doaj   +1 more source