Results 51 to 60 of about 1,789 (142)
Revista Brasileira de Saúde Materno Infantil, 2014 Introduction: ectopia cordis is a rare congenital malformation, with an estimated incidence of 5 to 8 per million live births. It is defined as a malformation in which the heart is located in an extra-thoracic position.
Gonçalo Filipe Infante Mesquita Dias +4 more
doaj +1 more source
The PreGen Research Program: Implementing Prenatal Genomic Testing in Australia—A Commentary
Australian and New Zealand Journal of Obstetrics and Gynaecology, Volume 65, Issue 4, Page 543-547, August 2025.ABSTRACT Prenatal genomic sequencing, which can provide a significantly increased diagnostic rate for fetal structural anomaly (FSA) compared with karyotype and microarray, is not available uniformly across Australia. PreGen, a 5‐year translational research program, has identified significant barriers to implementation including access to funding, the ...
Sarah Long +17 more
wiley +1 more source
Parkinson's disease‐linked Kir4.2 mutation R28C leads to loss of ion channel function
The Journal of Physiology, Volume 603, Issue 12, Page 3499-3518, 15 June 2025.Abstract figure legend Pathogenic impact of the PD‐linked Kir4.2R28C mutation on Kir4.2 channel proteostasis and function. The Kir4.2R28C mutation, identified in a familial Parkinson's disease (PD) pedigree, leads to a near‐complete loss of potassium channel function and exerts a significant dominant‐negative effect.
Xiaoyi Chen +8 more
wiley +1 more source
Semina: Ciências Agrárias, 2013 Birth defects, deformities or abnormalities are terms used to describe developmental defects present at birth, most of which are rare in bitches. We report the case of a six-month old mongrel bitch corpse, which, when subjected to an anatomotopographic ...
Ricardo Santana de Lima +4 more
doaj +1 more source
Prenatal multidisciplinary counseling for fetal congenital anomalies: A narrative review
International Journal of Gynecology &Obstetrics, Volume 169, Issue 2, Page 498-510, May 2025.Abstract Introduction Prenatal multidisciplinary counseling for fetuses with congenital anomalies involves a collaborative approach, integrating expertise from various medical fields. Aims and Approach This comprehensive strategy aims to provide expectant parents with accurate information about the diagnosis, potential outcomes, and available ...
Licia Lugli +10 more
wiley +1 more source
Enhanced Iteroparity Is a Correlated Response to Direct Selection on Blood Feeding in a Mosquito
Ecology and Evolution, Volume 15, Issue 4, April 2025.Coq. (Diptera: Culicidae). Previous studies have focused on the fitness benefits of variable larval environment. ABSTRACT Herein, we determine life‐history consequences of selection on blood feeding in a polymorphic population of the pitcher‐plant mosquito, Wyeomyia smithii Coq. (Diptera: Culicidae). All populations of W.
Rudyard J. Borowczak +4 more
wiley +1 more source
Routine 36‐week scan: diagnosis of fetal abnormalities
Ultrasound in Obstetrics &Gynecology, Volume 65, Issue 4, Page 427-435, April 2025.ABSTRACT Objectives To investigate further the incidence and types of fetal abnormality identified at a routine 36‐week ultrasound examination, which had not been diagnosed in previous scans at 20 weeks and 12 weeks' gestation, and to report the fetal abnormalities that are diagnosed only postnatally.
A. Syngelaki +5 more
wiley +1 more source
Prenatal Diagnosis of Pentalogy of Cantrell with Increased Nuchal Translucency: Case Report
Gynecology Obstetrics & Reproductive Medicine, 2011 Pentalogy of Cantrell is a rare sporadic syndrome with unknown etiology. We aimed to present a prenatally diagnosed case of pentalogy of Cantrell associated with increased nuchal translucency (NT). A twenty-two year old G2P0A1 pregnant woman was admitted
Deniz Cemgil Arıkan +4 more
doaj
Retrospective Study of Clinical and Genetic Profiles of Alpha‐Mannosidosis Patients From the UAE
JIMD Reports, Volume 66, Issue 2, March 2025.ABSTRACT Alpha‐mannosidosis (AM; OMIM 248500) is a rare autosomal recessive lysosomal storage disorder caused by mutations in MAN2B1, which codes for the lysosomal alpha‐mannosidase enzyme (LAMAN; EC:3.2.1.24). Clinical characteristics include developmental delay, hearing impairment, and recurrent infections.
Ali K. Saad +6 more
wiley +1 more source