Biallelic variants in encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish.

RNA polymerase III transcribes essential non-coding RNAs, a process regulated by transcription factors TFIIIB and TFIIIC. Although germline variants in TFIIIC subunit genes have been described in a few patients with neurodevelopmental disorders, the associated pathogenesis and clinical spectrum are not yet well defined. Herein, we describe the identification of biallelic variants in which encodes a key component of the TFIIIC subunit, in four patients from three unrelated families of different ethnicities collected through GeneMatcher.

Patient-Reported Social Risk Factor Screening Among Rheumatology Outpatients.

Objective: The purpose of this study was to pilot test a patient-reported social risk factor (SRF) screening tool among rheumatology outpatients and to examine the distribution of SRFs in this population.

Methods: A SRF screening tool was completed electronically by patients. Patients were screened for four core SRF domains (financial strain, housing instability, food insecurity, and transportation needs) and four supplemental SRF domains (physical inactivity, social isolation, stress, and depression).

Leveraging International Health Regulations (2005) to enhance health security in the Eastern Mediterranean Region: a retrospective analysis from 2016 to 2023.

Introduction: The WHO Eastern Mediterranean Region (EMR), consisting of 22 member states, faces significant health security challenges exacerbated by socioeconomic, political and environmental factors. This study aims to assess the efforts to enhance health security in the EMR from 2016 to 2023 through the implementation of the International Health Regulations (IHR) (2005) core capacities.

Methods: A narrative review was conducted using IHR Monitoring and Evaluation Framework (MEF) tools, such as the State Party Self-Assessment Annual Report (SPAR) and the Joint External Evaluation (JEE), to evaluate the region's preparedness and response capabilities.

Trunnionosis After Total Hip Arthroplasty: A Review of the Etiology, Diagnosis, and Management.

Trunnionosis implies wear and corrosion at the head-neck junction of the femoral component in a total hip replacement, leading to the release of metal ions and particulate debris. It has become a recognized complication following total hip arthroplasty (THA), particularly in modular implant designs. These wear processes can result in adverse local tissue reactions (ALTRs), implant loosening, and systemic effects in severe cases.

Adolescent Clavicle Fractures: A Management Dilemma?

Clavicle fractures are among the most common orthopaedic injuries in adolescents, particularly male athletes, arising primarily from sports-related trauma and vehicular accidents. While non-operative treatment remains the standard approach due to favourable recovery outcomes and lower complication rates, the trend toward surgical fixation has gained traction, driven by emerging studies suggesting potential benefits in certain cases. This review critically examines the indications, outcomes, and complications associated with both conservative and operative management of adolescent clavicle fractures.