Results 131 to 140 of about 486,804 (314)
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Karlien Mul +15 more
wiley +1 more source
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral +52 more
wiley +1 more source
Accommodating patients with obesity in ambulatory care: A clinical environment checklist
Objective Individuals with obesity face unique challenges when visiting healthcare providers, including inadequate equipment. These negative care experiences, often exacerbated by weight stigma, frequently lead to mistrust and reluctance to seek future ...
Wesley Boland +2 more
doaj +1 more source
Physician-owned specialized facilities: focused factories or destructive competition?: a systematic review. [PDF]
Multiple studies have investigated the business case of physician-owned specialized facilities (specialized hospitals and ambulatory surgery centers). However literature lacks integration.
Annemans, Lieven +4 more
core
Polarized microscopic images of the outer bone cortex (a and b) and deeper trabecular bone (c and d) of the deer calcaneus in thin cross‐sections. The brighter gray levels reflect more oblique‐to‐transverse collagen fibers in the compression/dorsal bone (a, c) and the darker gray levels reflect more longitudinal collagen in the tension/plantar bone (b,
John G. Skedros +3 more
wiley +1 more source
Background and Objectives: Circadian fluctuations in blood pressure, particularly the non-dipping pattern characterized by the absence of a nocturnal decline, are associated with an increased risk of microvascular complications.
Oğuzhan Zengin +8 more
doaj +1 more source
Purpose To critically evaluate the impact of tranexamic acid (TXA) on hip arthroscopy outcomes, including its effects on bleeding, functional recovery, postoperative pain, complications, intraoperative visualization, and surgical efficiency. Methods A systematic review was conducted in accordance with the Preferred Reporting Items for Systematic ...
Paul B. Walker +6 more
wiley +1 more source

