The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley +3 more
wiley +1 more source
A Retrospective Study of High‐Risk Infants: Insights From a Regional Hospital in Victoria, Australia
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Aim To determine the magnitude of high‐risk infants cared for at a regional hospital in Victoria, Australia and to identify the resources required to care for them. Methods A retrospective study was conducted between January 2017 and December 2019 in a regional hospital in Victoria, Australia.
Romanie Rodrigo +4 more
wiley +1 more source
SAGE Open NursingIntroduction The diaphragm is considered the main inspiratory muscle, and as such, its assessment is crucial in patients with respiratory pathology. It is known that the contractile capacity of a muscle is determined by strength, length, and the duration
Teresa E Fernández-Pardo PT, MSc, PhD student +6 more
doaj +1 more source
Snare traction-assisted ultra-long tunnel endoscopic resection of a giant exophytic cardia subepithelial tumor with diaphragmatic adherence [PDF]
Huihui Zhou +5 more
openalex +1 more source
A perspective on automated rapid eye movement sleep assessment
Journal of Sleep Research, Volume 34, Issue 2, April 2025.Summary Rapid eye movement sleep is associated with distinct changes in various biomedical signals that can be easily captured during sleep, lending themselves to automated sleep staging using machine learning systems. Here, we provide a perspective on the critical characteristics of biomedical signals associated with rapid eye movement sleep and how ...
Mathias Baumert, Huy Phan
wiley +1 more source
Characterisation of sleep apneas and respiratory circuitry in mice lacking CDKL5
Journal of Sleep Research, Volume 34, Issue 2, April 2025.Summary CDKL5 deficiency disorder is a rare genetic disease caused by mutations in the CDKL5 gene. Central apneas during wakefulness have been reported in patients with CDKL5 deficiency disorder. Studies on CDKL5‐knockout mice, a CDKL5 deficiency disorder model, reported sleep apneas, but it is still unclear whether these events are central (central ...
Gabriele Matteoli +12 more
wiley +1 more source
Respiratory Insufficiency with Preserved Diaphragmatic Function in Amyotrophic Lateral Sclerosis
, 2014 Rika Yamauchi +5 more
openalex +2 more sources
Bochdalek diaphragmatic hernia masquerading as tension hydropneumothorax in an adult [PDF]
, 2010 Sanjay Kumar Somani +5 more
openalex +1 more source
Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network
Paediatric and Perinatal Epidemiology, EarlyView.ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman +23 more
wiley +1 more source