Results 131 to 140 of about 37,810 (312)

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

open access: yesMovement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan   +4 more
wiley   +1 more source

FlowVN Trained on a Single Dataset Enables Rapid Reconstruction of Highly Accelerated 4D Flow MRI Across Multiple Sites

open access: yesMagnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose The aim of this study is to evaluate a deep variational network, FlowVN, for the reconstruction of heavily undersampled 4D Flow MRI across multiple sites. Methods FlowVN was trained on fully sampled 4D Flow MRI datasets of healthy volunteers from one site. The model was tested on retrospective undersampled data (R = 6–22) of six normal
Sohaib Ayaz Qazi   +6 more
wiley   +1 more source

Review of nutrition management of pediatric intestinal pseudo‐obstruction

open access: yesNutrition in Clinical Practice, EarlyView.
Abstract Chronic intestinal pseudo‐obstruction (CIPO) is a rare, heterogeneous, and debilitating disorder characterized by profound intestinal dysmotility and severe nutrition challenges. Its presentation resembles that of mechanical bowel obstruction, but CIPO occurs in the absence of luminal obstruction.
Senthilkumar Sankararaman   +5 more
wiley   +1 more source

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

open access: yesPrenatal Diagnosis, EarlyView.
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

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear   +7 more
wiley   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas   +7 more
wiley   +1 more source

Audio‐guided exercise at home: Preliminary findings from a pilot study on physical activity for people with low vision

open access: yesPM&R, EarlyView.
Abstract Background: Individuals with severe visual impairments frequently refrain from regular physical activity due to multiple barriers, including transportation difficulties, financial constraints, and limited availability of exercise programs tailored to their needs. These factors often contribute to a gradual decline in mobility and independence.
Luca Correale   +7 more
wiley   +1 more source

The Economic Burden of Gestational Diabetes and Body Mass Index Changes Between Pregnancies: A Retrospective Cohort Study

open access: yesBJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To determine associations between gestational diabetes mellitus (GDM) and body mass index (BMI) change between consecutive pregnancies, and hospital length of stay (LOS) and hospital costs. Design Retrospective cohort study. Setting Two maternity hospitals, New South Wales, Australia.
Rashidul Alam Mahumud   +4 more
wiley   +1 more source

Chromosome‐scale genome assembly of the South American fruit fly, Anastrepha fraterculus sp.1

open access: yesInsect Science, EarlyView.
Anastrepha fraterculus sp. 1 is a major fruit fly pest in Argentina, currently controlled through chemical treatments and traps. This study aims to enhance the genomic understanding of this species to support the development of sterile insect technique as well as the use of innovative technologies.
Máximo Rivarola   +15 more
wiley   +1 more source

Advances in the genetics of refractive errors: Contributions from the CREAM consortium

open access: yesActa Ophthalmologica, EarlyView.
Abstract The Consortium for Refractive Error and Myopia (CREAM) was established in 2011, bringing together an international team of researchers studying more than 30 cohorts. Since its establishment, CREAM has played a pivotal role in research investigating the genetics of myopia and other refractive errors, serving as a key driver of progress in the ...
Sze Wai Rosa Li   +11 more
wiley   +1 more source

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