Results 41 to 50 of about 1,787 (141)
The Concise Guide to PHARMACOLOGY 2025/26: Ion channels
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +86 more
wiley +1 more source
A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas +2 more
wiley +1 more source
ABSTRACT Burnout affects a significant proportion of nursing students and is characterised by emotional exhaustion, depersonalisation, and a diminished sense of accomplishment. Previous studies have reported that the overall prevalence of academic burnout among nursing students is approximately 46%.
Miguel Ángel Martín‐Parrilla +5 more
wiley +1 more source
Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (III)
Fetuses with neural tube defects (NTDs) may be associated with syndromes, disorders, and maternal and fetal risk factors. This article provides a comprehensive review of syndromes, disorders, and maternal and fetal risk factors associated with NTDs, such
Chih-Ping Chen
doaj +1 more source
The PreGen Research Program: Implementing Prenatal Genomic Testing in Australia—A Commentary
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
First Trimester Diagnosis of Cantrell Pentalogy: A Case Report
Pentalogy of Cantrell is a rare syndrome with a deficiency of anterior diaphragm, a midline supraumbilical abdominal wall defect, a defect in the diaphragmatic pericardium, various congenital intracardiac abnormalities and a defect of the lower sternum.
Emel Ebru Özçimen +2 more
doaj
Cantrell’s Syndrome: Left Ventricular Diverticulum in an Adult Patient [PDF]
To the Editor: We read with interest the findings reported by Gruberg et al.1 At 33 years of age, the patient had left ventricular hypertrophy by echocardiography and, in the absence of obvious reasons …
Edward G., Abinader, Dawod, Sharif
openaire +2 more sources
Parkinson's disease‐linked Kir4.2 mutation R28C leads to loss of ion channel function
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
Isolated Asymptomatic Short Sternum in a Healthy Young Girl
Congenital sternal defects are rare deformities frequently associated with other anomalies of the chest wall and other organ systems. Although pectus excavatum, pectus carinatum, and cleft sternum can present as isolated deformity, in most cases they are
Francesco Turturro +5 more
doaj +1 more source
Prenatal multidisciplinary counseling for fetal congenital anomalies: A narrative review
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

