The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by pathogenic variants in the PKD1 and PKD2 genes. Although the type of ADPKD variant can influence disease severity, rare, hypomorphic PKD1 variants have also been reported to modify disease severity or cause biallelic ADPKD. This study examines whether rare, additional, potentially protein-altering, non-pathogenic PKD1 variants contribute to ADPKD phenotypic outcomes.

Randomized Controlled Trial of the Effects of High-Dose Ondansetron on Clinical Symptoms and Brain Connectivity in Obsessive-Compulsive and Tic Disorders.

Objective: Sensory phenomena (SP) are aversive sensations driving repetitive behaviors in obsessive-compulsive disorder (OCD) and Tourette's disorder that are not well addressed by standard treatments. SP are related to the functioning of an interoceptive-sensorimotor circuit that may be modulated by the 5-HT receptor antagonist ondansetron. The present study employed an experimental medicine approach to test the effects of 4 weeks of high-dose ondansetron compared to placebo on SP severity and brain connectivity in a cohort of individuals with OCD and/or Tourette's disorder.

Preservation of Bilateral Corticospinal Projections from Injured Hemisphere After Perinatal Stroke.

Background: Perinatal brain injury is a leading cause of developmental disabilities, including cerebral palsy. However, further work is needed to understand early brain development in the presence of brain injury. In this case report, we examine the longitudinal neuromotor development of a term infant following a significant loss of right-hemispheric brain tissue due to a unilateral ischemic stroke.

Relationships Between the Infrapatellar Fat Pad and Patellofemoral Joint Osteoarthritis Differ With Body Mass Index and Sex.

The role of the infrapatellar fat pad (IPFP) in knee osteoarthritis is not understood. This study aimed to identify relationships between MRI-based signal abnormalities in the IPFP and measures of structural pathology and symptom severity in PFJOA, as well as investigate the influence of obesity and sex on these relationships. Seventy participants (ages 28-80) with isolated PFJOA underwent bilateral knee MRI scan acquisitions and completed the Knee Injury and Osteoarthritis Outcome Score (KOOS).

Exploring perceived barriers and attitudes in young adults towards antidepressant pharmacotherapy, including the implementation of pharmacogenetic testing to optimize prescription practices.

Introduction: The field of pharmacogenetics (PGx) is experiencing significant growth, with increasing evidence to support its application in psychiatric care, suggesting its potential to personalize treatment plans, optimize medication efficacy, and reduce adverse drug reactions. However, the perceived utility and practicability of PGx for psychiatric treatment in youth remains underexplored. This study investigated perceived barriers and attitudes in Australian young adults towards the implementation of PGx testing to guide antidepressant treatment in primary care.