Mutation in and a Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case.

Structural or electrophysiologic cardiac anomalies may compromise cardiac function, leading to sudden cardiac death (SCD). Genetic screening of families with severe cardiomyopathies underlines the role of genetic variations in cardiac-specific genes. The present study details the clinical and genetic characterization of a malignant dilated cardiomyopathy (DCM) case in a 1-year-old Mexican child who presented a severe left ventricular dilation and dysfunction that led to SCD.

Ring Fixator Bone Transport is Associated With Fewer Unplanned Major Reoperations than Masquelet in the Treatment of Segmental Bone Defects of the Tibia.

Objective: To determine whether bone transport or Masquelet results in higher rates of major unplanned reoperations for the treatment of segmental tibial bone defects ≥4 cm in length.

Methods: Design: Retrospective cohort.

Setting: Level I trauma center.

The calcium-binding protein S100A1 binds to titin's N2A insertion sequence in a pH-dependent manner.

Titin is the third contractile filament in the sarcomere, and it plays a critical role in sarcomere integrity and both passive and active tension. Unlike the thick and thin filaments, which are polymers of myosin and actin, respectively, titin is a single protein that spans from Z-disk to M-line. The N2A region within titin has been identified as a signaling hub for the muscle and is shown to be involved in multiple interactions.

Determining If Post-Injury Financial Distress Was Preexisting or Injury-Induced: A Prospective Cohort Study of Patients with Lower-Extremity Trauma.

Background: Previous research has estimated that over one-half of patients with orthopaedic trauma experience financial distress after the injury. However, it is unknown what proportion of patients lived under financial distress before the injury and, therefore, the causal effect of the injury on financial distress. This study examined changes in financial distress after the injury and factors associated with new post-injury financial distress.

Returning to Work is Associated with Higher Quality of Life: A LIMB-Q Analysis in Patients with Limb-Threatening Injuries.

Objectives: To identify clinical, demographic, and patient-reported outcomes (PROs) associated with return to work after lower extremity traumatic injury requiring amputation or limb salvage.

Methods: Design: Cross-sectional study.

Setting: Multi-center across 25 countries.