Results 51 to 60 of about 5,214 (161)

A Case Report of Shwachman‐Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
We report a neonatal SDS patient with earliest onset of symptoms. The c.2935C>T and c.3149_3151delCAC compound heterozygous variants reported in this study expand the mutational spectrum of this disease. ABSTRACT Objective This investigation reports on a Shwachman‐Diamond syndrome (SDS) case arising from compound heterozygous genetic variations ...
Xiaoying Zhou   +4 more
wiley   +1 more source

Combined negative pressure wound therapy with irrigation and dwell time and artificial dermis prevents infection and promotes granulation formation in a ruptured giant omphalocele: a case report

open access: yesBMC Pediatrics, 2022
Background Omphalocele is a congenital abdominal wall defect of the umbilical cord insertion site. A giant omphalocele, with a fascial defect > 5 cm in diameter and/or containing > 50% of the liver within the hernia sac, can be challenging for pediatric ...
Yoichi Nakagawa   +12 more
doaj   +1 more source

Fetoscopic Vesicostomy for Lower Urinary Tract Obstruction: A Proposal for a New Surgical Technique

open access: yes
Prenatal Diagnosis, EarlyView.
Marcio Lopes Miranda   +5 more
wiley   +1 more source

Exploring hemodynamic alterations in gastroschisis: insights into fetal growth restriction using prenatal MRI

open access: yesUltrasound in Obstetrics &Gynecology, Volume 67, Issue 6, Page 795-805, June 2026.
Abstract Objective Despite the high incidence of fetal growth restriction (FGR) in gastroschisis (GS) associated with placental fetal vascular malperfusion (FVM), the underlying mechanism remains unclear. We aimed to investigate whether umbilical vein (UV) stenosis at the abdominal wall defect impairs fetoplacental circulation, leading to FGR.
H. Shi   +8 more
wiley   +1 more source

How Epigenetics Bridges Genes and Environment: A Multiomics Evidence Chain in Congenital Diaphragmatic Hernia

open access: yesBirth Defects Research, Volume 118, Issue 5, May 2026.
ABSTRACT Background/Objectives Congenital diaphragmatic hernia (CDH) is a severe developmental anomaly with high etiological heterogeneity. Although numerous susceptibility genes have been identified, genetic factors alone fail to explain the full disease risk. Epidemiological data highlight the contribution of environmental exposures.
Yunshan Gao   +8 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

open access: yesPrenatal Diagnosis, Volume 46, Issue 5-6, Page 623-635, May 2026.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear   +7 more
wiley   +1 more source

A Newborn with a Large Umbilical Cord Pseudocyst with Hemangioma: A Case Report and Review of the Literature

open access: yesGynecology Obstetrics & Reproductive Medicine, 2012
Umbilical cord pseudocysts in a newborn are very rare. They may be associated with patent urachus and hemangioma. Generally, they are localized in a particular section of the cord.
İbrahim Akkoyun   +4 more
doaj  

[Umbilical cord hernias].

open access: yesVestnik khirurgii imeni I. I. Grekova, 1976
The authors observed 38 children with umbilical cord hernias. In 27 of them some other defects were noted. Among 25 children there were 14 deaths (56.2%). Conservative therapy was conducted in 13 patients with umbilical cord hernia, 10 children died (76.9%).
N L, Kushch   +3 more
openaire   +1 more source

Hernia of the umbilical cord: a clinical spectrum

open access: yesInternational Journal of Contemporary Pediatrics, 2019
Background: Hernia of the umbilical cord is a rare clinical entity which presents with hernia of the small bowel into the proximal part of the umbilical cord. This is sporadically associated with other congenital malformations. This is usually poorly identified and mistakenly termed as ‘omphalocele minor. Inadvertent clamping of the cord in these cases
Monali Madhukar Patole   +2 more
openaire   +2 more sources

Diagnosis, management and prevention of umbilical infections in bovine youngstock

open access: yesIn Practice, Volume 48, Issue 3, Page 119-126, April 2026.
Background: Umbilical infections in calves demonstrate varied presentations, ranging from subclinical to localised swellings to more severe, disseminated infections, with or without associated umbilical hernias. Hygiene is a key modifiable risk factor – good management practices are central to prevention.
George Lindley   +3 more
wiley   +1 more source

Home - About - Disclaimer - Privacy