Deciphering metabolomics and lipidomics landscape in zebrafish hypertrophic cardiomyopathy model.

To elucidate the lipidomic and metabolomic alterations associated with hypertrophic cardiomyopathy (HCM) pathogenesis, we utilized cmybpc3-/- zebrafish model. Fatty acid profiling revealed variability of 10 fatty acids profiles, with heterozygous (HT) and homozygous (HM) groups exhibiting distinct patterns. Hierarchical cluster analysis and multivariate analyses demonstrated a clear separation of HM from HT and control (CO) groups related to cardiac remodeling.

Divergent Biochemical Properties and Disparate Impact of Arrhythmogenic Calmodulin Mutations on Zebrafish Cardiac Function.

Calmodulin (CaM) is a ubiquitous, small cytosolic calcium (Ca)-binding sensor that plays a vital role in many cellular processes by binding and regulating the activity of over 300 protein targets. In cardiac muscle, CaM modulates directly or indirectly the activity of several proteins that play a key role in excitation-contraction coupling (ECC), such as ryanodine receptor type 2 (RyR2), l-type Ca (Ca1.2), sodium (NaV1.

Comparative Study for Surgical Treatment of Acute Distal Tibiofibular Syndesmotic Lesions Using the Modified Suture-Button Fixation Versus Static Syndesmotic Screw Fixation.

Introduction: Several techniques to treat acute distal tibiofibular instability are described consisting in static and dynamic fixation procedures. The aim of our work is to compare the outcomes of acute syndesmotic injury fixation between the modified technique of dynamic fixation using the suture-button principle as an efficient and low-cost method and the classic static fixation.

Methods: It is a prospective study including patients presenting with acute syndesmotic injury.

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to variants in six different genes, but most patients remain genetically undiagnosed. Here, we identify biallelic NAA60 variants in ten individuals from seven families with autosomal recessive PFBC.