Results 101 to 110 of about 6,088 (212)

Correcting Axial Length‐Related Magnification Errors in Optical Coherence Tomography Angiography Improves Machine Learning Classification Performance in High Myopia

open access: yesClinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background To determine whether axial length‐related magnification correction in optical coherence tomography angiography (OCTA) improves machine learning classification of high myopia and resolves inconsistencies in the values and discriminatory power of OCTA microvascular metrics.
Danuta M. Sampson   +9 more
wiley   +1 more source

Intravitreal aflibercept for the treatment of choroidal neovascularization associated with pathologic myopia: a pilot study

open access: yesClinical Ophthalmology, 2016
Andrii R Korol, Oleg S Zadorozhnyy, Volodymyr O Naumenko, Taras B Kustryn, Nataliya V Pasyechnikova The Filatov Institute of Eye Diseases and Tissue Therapy of the National Academy of Medical Sciences of Ukraine, Odessa, Ukraine Purpose: To determine ...
Korol AR   +4 more
doaj  

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures

open access: yesClinical Genetics, EarlyView.
A novel rare variant of the OFD1 gene was identified in a family with dental hypoplasia, facial hypoplasia, and adult‐onset multiple atypical fractures of long bones. Another variant of the OFD1 gene was found in a woman with bisphosphonate‐associated atypical femur fracture.
Marie‐Ève Boisvert   +12 more
wiley   +1 more source

Pathogenicity of NUSAP1 Variants Is Defined by NMD‐Escape: Evidence From Two Novel Cases and Systematic Population‐Based Variant Analysis

open access: yesClinical Genetics, EarlyView.
Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob   +15 more
wiley   +1 more source

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory

open access: yesClinical Genetics, EarlyView.
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco   +14 more
wiley   +1 more source

Using Catch Data to Estimate Changes in Global Commercial Abalone Abundance

open access: yesFisheries Management and Ecology, EarlyView.
ABSTRACT Changes in global wild capture production of abalone are explored to infer potential changes in biological stocks. The study found that 77% (or 10 out of the 13) of the countries that reportedly caught abalone in the wild have experienced declines in catches between 1980 and 2023, and on aggregate catch declined by almost 83% between 1980 and ...
Douglas Crookes
wiley   +1 more source

Unmasking Fatherhood: An Interpretative Phenomenological Analysis Exploring Mental Health Experiences Among Fathers of Autistic Children

open access: yesJournal of Advanced Nursing, EarlyView.
ABSTRACT Aim To explore how fathers in Singapore experience, interpret, and cope with the emotional and mental health demands of raising an autistic child, and how stigma and support contexts influence coping and help‐seeking. Design Qualitative. Methods Interpretative phenomenological analysis guided this qualitative study.
Brenda Jinyu Ng   +4 more
wiley   +1 more source

Elevated Nocturnal CO2 and Autonomic Dysfunction in Children With Down Syndrome

open access: yesJournal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Sleep‐disordered breathing (SDB) frequently complicates Down syndrome (DS). Beyond upper airway obstruction, emerging evidence suggests an autonomic nervous system (ANS) dysfunction affecting CO2 regulation. The aim of this study was to investigate nocturnal gas exchanges in children with DS and compare them to what has been ...
Jessica Taytard   +12 more
wiley   +1 more source

Choroidal thinning in myopia is associated with axial elongation and severity of myopic maculopathy

open access: yesScientific Reports
High myopia can lead to pathologic myopia and visual impairment, whereas its causes are unclear. We retrospectively researched high myopia cases from patient records to investigate the association between axial elongation and myopic maculopathy.
Momoka Midorikawa   +7 more
doaj   +1 more source

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