Results 91 to 100 of about 11,601 (222)

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

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, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

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, Jessica Yao, Simone Gong, Madhuka Wijayarathne, Monique Watts, Swati Mukherjee   +5 more
wiley   +1 more source

Assessment of DNA Variations From Two In Vivo Skeletal Muscle Disorder Mouse Models Using Complementary Square‐Wave Voltammetry and LC‐MS/MS Analysis

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, Grayson B. Sink, Saphal Bhandari, Emma L. Rayfield, Andrew T. Readyoff, Espen E. Spangenburg, Eli G. Hvastkovs   +6 more
wiley   +1 more source

Ehlers-Danlos syndrome type IV

Orphanet Journal of Rare Diseases, 2007
Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous ...
Germain Dominique P
doaj   +1 more source

Spine deformities in patients with Ehlers-Danlos syndrome, type IV - late results of surgical treatment [PDF]

, 2010
Background Spinal deformities in Ehlers-Danlos syndrome are usually progressive and may require operative treatment. There is limited number of studies describing late results of surgery in this disease.
Barbara Jasiewicz, Tomasz Potaczek, Maciej Tesiorowski, Krzysztof Lokas   +3 more
core   +2 more sources

Vascular Lesions in Ehlers–Danlos Syndrome [PDF]

Hypertension, 2013
See related article, pp 203–208 Ehlers–Danlos syndrome refers to a group of genetic disorders with connective tissue defects generated by collagen deficiency and fragility.1,2 It is classified into 6 types: classical, joint hypermobility, vascular, kyphoscoliosis, arthrochalasia, and dermatosparaxis.1 The vascular genotype affects 1 in 50 000 to 100 ...
openaire   +3 more sources

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

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, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. [PDF]

, 2017
PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy,
A Karaa, A Nadeau, AA Aldeeri, Adnan Y Manzur, AK Lampe, Angela F Brady, Anthony Vandersteen, AR Janecke, Ariana Kariminejad, B Steinmann, Bernarda Lozic, C Dordoni, C Giunta, C Nagashima, Carsten G Bönnemann, Cecilia Giunta, CG Bönnemann, Christine Fauth, Diana S Johnson, E Mercuri, Ebtesam M Abdalla, F Malfait, F Michael Pope, Fleur S van Dijk, GJ Halko, Glenda Sobey, Gudrun Schreiber, H Okamura, J Kirschner, Jacek Pilch, Jahannaz Dastgir, James Collins, Jenny E V Morton, Johannes Koch, Johannes Zschocke, L Van Laer, M Baumann, Marianne Rohrbach, Marius Kraenzlin, Martina Witsch-Baumgartner, Matthias Baumann, ME Kraenzlin, ML Murray, MP Wattjes, Nayana Lahiri, NC Voermans, Neeti Ghali, Nora L Shannon, P Beighton, PW Tan, R Rizzo, Rebecca C Pollitt, Sandra Donkervoort, SP Boudko, TH Milhorat, Uschi Lindert, WI Schievink, Y Ishikawa, Y von Kodolitsch, Y Zou   +59 more
core   +3 more sources

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, Volume 115, Issue 5, Page 1015-1024, May 2026.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

Peroneal Arteriovenous Fistula and Pseudoaneurysm: An Unusual Presentation

Case Reports in Vascular Medicine, 2014
Peroneal artery arteriovenous fistulas and pseudoaneurysms are extremely rare with the majority of reported cases due to penetrating, orthopedic, or iatrogenic trauma.
Kevin C. Ching, Kevin M. McCluskey, Abhay Srinivasan   +2 more
doaj   +1 more source