Results 121 to 130 of about 24,909 (251)
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1326-1336, June 2026.ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe +22 more
wiley +1 more source
A novel variant of Ehlers‐Danlos‐syndrome with COL1A2 mutation
Journal of the European Academy of Dermatology and Venereology, EarlyView.
Johanna Strobl, Peter Maximilian Heil
wiley +1 more source
Uterine Rupture Cases Over 15 Years in a District General Hospital: A Retrospective Case Series
Reproductive, Female and Child Health, Volume 5, Issue 2, June 2026.ABSTRACT Objective To evaluate the incidence, clinical presentation, management, and maternal and neonatal outcomes of uterine rupture over a 15‐year period in a UK district general hospital, and to assess local practice against the Royal College of Obstetricians and Gynaecologists (RCOG) Green‐top Guideline No. 45.
Asmaa Badr, Alexa Vardy
wiley +1 more source
EHLERS-DANLOS SYNDROME– AN OVERVIEW
International Journal of Biomedical and Advance Research, 2010 Ehlers-Danlos syndrome, hypermobility type is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, can and do occur. The skin is often soft or velvety and may be mildly hyperextensible. Subluxations and dislocations are common; they may occur spontaneously or with minimal trauma and can be ...
openaire +3 more sources
Cardiovascular Health in Women—Across the Lifespan
Clinical Endocrinology, Volume 104, Issue 6, Page 539-555, June 2026.ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar +5 more
wiley +1 more source
ChemBioChem, Volume 27, Issue 9, 14 May 2026.Complementary square wave voltammetry (SWV) and liquid chromatography‐tandem mass spectrometry (LC‐MS/MS DNA) are used to analyze DNA extracted from selected muscle tissues from either mdx or col5a1(+/‐) mouse models. SWV oxidative currents change with treatment and allow for a rapid genetic analysis.
Elizabeth R. LaFave +6 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 5, May 2026.Obturator dislocation following direct anterior approach total hip arthroplasty. Multiple converging factors contributed to instability: loss of offset due to cup medialisation, stem retroversion resulting in low combined anteversion, and postoperative increase in hip flexion, despite the absence of classic spinopelvic risk factors.
Briac Peynet +4 more
wiley +1 more source
Journal of Rehabilitation MedicineObjective: Chronic pain is a common manifestation of Ehlers-Danlos syndrome and hypermobility spectrum disorders; thus it is often suggested that patients undergo generic interdisciplinary pain rehabilitation, despite there being little evidence to ...
Peter Molander +7 more
doaj +1 more source
Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source