Results 51 to 60 of about 5,214 (161)
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
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
Prenatal Diagnosis, EarlyView.
Marcio Lopes Miranda +5 more
wiley +1 more source
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
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
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
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
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
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
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

