Results 151 to 160 of about 29,360 (257)

Emerging Technologies for the Management and Mitigation of Myopia Progression: A Scoping Review

open access: yesHealth Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background and Aims Currently, myopia affects approximately 1,406 million individuals, representing 22.9% of the global population. Emerging technologies are transforming eye care by providing innovative approaches to address the global challenge of myopia progression.
Kingsley Ekemiri   +6 more
wiley   +1 more source

Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin‐Treated Patients With Early‐Onset Cobalamin C Disease

open access: yesJIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Cobalamin C (cblC) disease is the most common disorder of Vitamin B12 activation. The early‐onset form presents within the first few months of life, with some patients identified through newborn screening (NBS). However, despite early detection and optimal treatment, patient outcomes remain poor, with intellectual impairment and progressive ...
Arthavan Selvanathan   +7 more
wiley   +1 more source

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Si Huang   +8 more
wiley   +1 more source

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

Motorized semi-automated prism bar technique for enhanced prismatic evaluation. [PDF]

open access: yesIndian J Ophthalmol
Suresh G   +4 more
europepmc   +1 more source

The Management of Congenital Cytomegalovirus Infection in an Era of Universal Newborn CMV Screening

open access: yesReviews in Medical Virology, Volume 36, Issue 3, May 2026.
ABSTRACT The most common infectious disease responsible for paediatric developmental disability is congenital infection with human cytomegalovirus (cCMV). Many serious sequelae are caused by cCMV, including microcephaly, intracranial calcifications, neuronal migration defects, seizure disorders, developmental delay, and sensorineural hearing loss (SNHL)
Emily R. Harrison   +2 more
wiley   +1 more source

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