Extreme Phenotypic Variability of -Related Disorders in Hearing Loss.

Hearing loss is the most common sensory defect in humans, affecting normal communication. In most cases, hearing loss is a multifactorial disorder caused by both genetic and environmental factors, but single-gene mutations can lead to syndromic or non-syndromic hearing loss. Monoallelic variants in , coding for gamma (γ)-actin, are associated with classical Baraitser-Winter Syndrome type 2 (BRWS2, nonsyndromic deafness, and a variety of clinical presentations not fitting the original BRWS2 description or nonsyndromic deafness.

The Restoration of the Prearthritic Joint Line Does Not Guarantee the Natural Knee Kinematics: A Gait Analysis Evaluation Following Primary Total Knee Arthroplasty.

Background: Unrestricted kinematic alignment (uKA) in total knee arthroplasty (TKA) has the theoretical advantage of reproducing patients' constitutional alignment and restoring the pre-arthritic joint line position and obliquity. However, modifications of the original uKA technique have been proposed due to the potential risk of mechanical failure and instability. Given the significant variability in soft tissue behavior within the same bony morphology group, uKA pure knee resurfacing could be occasionally detrimental.

Regional disparities in the management and outcomes of ST-elevation myocardial infarction: an Italian analysis focusing on time-dependent reperfusion networks and in-hospital logistics.

Background: Prompt reperfusion is critical for patients with ST-segment elevation myocardial infarction (STEMI) to improve outcomes. Yet, variability in regional healthcare delivery may influence treatment times and patient outcomes. We thus aimed at evaluating differences in management and outcomes of STEMI patients across Northern, Central, and Southern Italy, focusing on time-dependent reperfusion and in-hospital logistics.