Expanding the Clinical Spectrum of NR4A2-Related Disorder: A Systematic Literature Review and Case Series.

NR4A2 encodes a nuclear transcription factor in the steroid-thyroid hormone-retinoid receptor family. Pathogenic variants in NR4A2 are rare and until now have been associated exclusively with neurodevelopmental phenotypes. A systematic literature review of NR4A2-related disorder was conducted using the PubMed and ClinVar databases.

Navigating barriers to epilepsy surgery: a national survey of patient and neurologist perspectives.

Objective: Epilepsy surgery is underutilized globally due to patient and/or caregiver reluctance and neurologist knowledge gaps. In Pakistan, the treatment gap is 70%-94% for medically refractory epilepsy (MRE). This study assessed the knowledge and practices of neurologists and patients to identify barriers to adequate epilepsy surgery provision in Pakistan.

A Prospective Evaluation of the Association of Ureteral Wall Thickness With Intraoperative Stone Impaction in Ureteroscopy.

Background and objective In this study, we aimed to analyze the association of ureteral wall thickness (UWT) measured on non-contrast CT (NCCT) with stone impaction as found in ureteroscopy (URS). Materials and methods We analyzed 43 patients who underwent URS and pneumatic/laser lithotripsy for ureteric stones from May to November 2022. The UWT was measured by an experienced radiologist on NCCT.

Extracorporeal Shock Wave Lithotripsy (ESWL) Outcome Based on CT Scan and Patient Parameters Using ESWL Score.

Objective: To prospectively evaluate ESWL (extracorporeal shock wave lithotripsy) outcomes and validate ESWL Score.

Study Design: An observational study.

Place And Duration Of Study: The Aga Khan University Hospital, from January 2021 to December 2021.