Hyperhomocysteinemia is a risk factor for cardiovascular disease, neurological disorders, and bone abnormalities. The key enzyme in homocysteine metabolism, cystathionine-β-synthase (CBS) is recognized as a target for new homocysteine-lowering therapies including enzyme replacement and gene therapy. …

Background Understanding cultural perceptions of illness is crucial for effective healthcare delivery. This study examines the ethnomedical concept of ikirimi, a culturally recognized illness in Rwanda characterized by perceived uvula abnormalities, and its traditional management through uvulectomy. …

Objective: To evaluate psychometrics of wearable devices measuring physical activity (PA) in ambulant children with gait abnormalities due to neuromuscular conditions.  Data Sources: We searched PubMed, Embase, PsycINFO, CINAHL, and SPORTDiscus in March 2023.  Study Selection: We included studies if …

Objective To estimate the incidence of uterine rupture in the Netherlands and evaluate risk indicators prelabour and during labor of women with adverse maternal and/or perinatal outcome. Methods This is a population-based nationwide study using the Netherlands Obstetrics Surveillance System (NethOSS). …

Objective This systematic review aimed at synthesizing current evidence on biomarkers associated with cognitive impairment (CI) in Post-Traumatic Stress Disorder (PTSD). Methods A systematic literature search was conducted for studies assessing biomarkers associated with CI in PTSD. Results Of the …

Workers are an important factor in the implementation of a construction project. Applying ergonomic postures for workers in the projects is necessary to minimize the risk of work accidents and the risk of experiencing musculoskeletal disorders (MsDs). The use of lightweight brick for wall construction …

RATIONALE: To date, causal therapy is potentially available for GRIN2B-related neurodevelopmental disorder (NDD) due to loss-of-function (LoF) variants in GRIN2B, resulting in dysfunction of the GluN2B subunit-containing N-methyl-d-aspartate receptor (NMDAR). Recently, in vitro experiments showed that …

Background Altered muscle-tendon properties in clubfoot patients could play a role in the occurrence of a relapse and negatively affect physical functioning. However, there is a lack of literature about muscle-tendon properties of clubfoot relapse patients. Research question The aim of this study was …

We assessed the value of screening for cognitive abnormalities in a chronically infected HIV population (N = 388) and investigated the association with clinical correlates. The mean age was 48 years (±11), the majority of the patients were male (89%), the median duration of infection was 6 years [interquartile …

Purpose: Parentally transmitted germ-line chromothripsis (G-CTH) has been identified in only a few cases. Most of these rearrangements were stably transmitted, in an unbalanced form, from a healthy mother to her child with congenital abnormalities probably caused by de novo copy-number changes of dosage …