Results 131 to 140 of about 42,467 (260)
Antithrombin: Deficiency, Diversity, and the Future of Diagnostics
Mass Spectrometry Reviews, EarlyView.ABSTRACT Our healthcare system provides reactive sick‐care, treating patients after symptoms have appeared by prescription of generic and often suboptimal therapy. This strategy brings along high costs and high pressure which is not sustainable.
Mirjam Kruijt +2 more
wiley +1 more source
Movement 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
“It's just us”: Families' experiences with temporary tube feeding
Nutrition in Clinical Practice, EarlyView.Abstract Background Children with temporary feeding tubes are discharged home with increasing frequency, yet little is known about how families adapt and manage in their home environment. Whereas the physical side effects of temporary feeding tubes are well documented, the psychosocial impact on families remains underresearched. Understanding families'
Claire Reilly +4 more
wiley +1 more source
Obesity, EarlyView.ABSTRACT Objective This post hoc analysis assessed psychiatric changes with tirzepatide in adults with obesity, without known major psychopathology, from SURMOUNT‐1, SURMOUNT‐2, and SURMOUNT‐3. Methods In participants (N = 4056) treated with tirzepatide (5/10/15 mg or maximum tolerated dose 10/15 mg) versus placebo, depressive symptoms and suicidal ...
Thomas A. Wadden +6 more
wiley +1 more source
Prenatal 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
Prenatal 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
Prenatal 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
Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives
Pediatric Investigation, EarlyView.Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley +1 more source
PM&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