Results 181 to 190 of about 9,890 (252)

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha   +13 more
wiley   +1 more source

Cerebral Hemodynamic Changes During Cardiac Surgery: A Feasibility MR Study in Piglets

open access: yesNMR in Biomedicine, Volume 39, Issue 5, May 2026.
Congenital heart disease surgery in infants requires cardiopulmonary bypass (CPB), which increases the risk of brain injury. Conventional heart‐lung machines (HLMs) cannot operate inside MRI scanners, limiting real‐time assessment of cerebral changes. We developed an MR‐conditional HLM and tested it in piglets during CPB.
Dominik T. Schulte   +13 more
wiley   +1 more source

Clinical and computed tomographic characteristics of conjunctival large cell lymphoma in a cat

open access: yesVeterinary Record Case Reports, Volume 14, Issue 2, May 2026.
Abstract This case report describes a 12‐year‐old, female, neutered domestic shorthair cat presenting with an acute, diffuse, non‐resolving mass‐like lesion affecting the right conjunctiva. Despite an initial conscious snip biopsy result negative for malignancy and contrast‐enhanced computed tomography findings suggestive of sino‐orbital aspergillosis,
Yuet Yee Pang   +2 more
wiley   +1 more source

Effect of soft tissue sample preparation techniques for scanning small‐angle X‐ray scattering experiments

open access: yesJournal of Synchrotron Radiation, Volume 33, Issue 3, Page 632-648, May 2026.
The effect of tissue‐processing techniques, including fixation and embedding, on the structural information obtained from scanning small‐angle X‐ray scattering of muscle and connective tissue has been studied. This provides a framework for sSAXS users working with soft tissues to make an informed choice on the sample preservation method, tailored to ...
Atreyee Acharya   +4 more
wiley   +1 more source

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

open access: yesActa Ophthalmologica, Volume 104, Issue 3, Page 267-279, May 2026.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano   +26 more
wiley   +1 more source

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