Case Report: Filamin C gene mutation associated with restrictive cardiomyopathy leading to heart transplantation.

Background: Cardiomyopathy is a disease that affects the myocardium and can be classified as dilated, restrictive, or hypertrophic cardiomyopathy. Among the subtypes, restrictive cardiomyopathy is characterized by restriction of ventricular filling and its uncommon cause is a disease due to mutation on Filamin C (FLNC) gene. Filamin C is an actin-binding protein encoded by FLNC gene and participates in sarcomere stability maintenance, which is expressed on the striated muscle.

Fourier transform infrared spectroscopy for capsular serotype classification in pediatric patients with invasive infections.

Invasive pneumococcal disease (IPD) is a major cause of morbidity and mortality worldwide, particularly in the pediatric population (children and infants), with high rates of hospitalization and death. This study aimed to create and validate a classifier for serotyping using Fourier-transform infrared (FT-IR) spectroscopy as a rapid alternative to the classical serotyping technique. In this study, a database comprising 76 clinical isolates, including 18 serotypes (predominantly serotypes 19A, 6C, and 3) of from pediatric patients with IPD, was tested at a tertiary pediatric hospital in southern Brazil during 2016-2023.

Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement.

Patients with mucopolysaccharidosis type II (MPS II) can present with a severe neuronopathic phenotype or an attenuated non-neuronopathic phenotype. In the light of the recent development of drugs that cross the blood-brain barrier for treatment of neurologic MPS II symptoms, it is critical to define biomarkers that objectively differentiate phenotypes and monitor therapeutic outcomes of advanced treatments. In December 2023, a panel of Brazilian experts discussed the potential of quantifying heparan sulfate (HS) in the cerebrospinal fluid (CSF) as a biomarker for assessing neurological impairment in patients with MPS II, as well as the potential of the molecule as an objective parameter for therapeutic monitoring.

Epilithic algal composition and the functioning of Anthropocene coral reefs.

Epilithic algae dominate cover on coral reefs globally, forming a critical ecological interface between the benthos and reef organisms. Yet, the drivers of epilithic algal composition, and how composition relates to the distribution of key taxa, remain unclear. We develop a novel metric, the Epilithic Algal Ratio, based on turf cover relative to total epilithic algae cover, and use this metric to assess cross-scale patterns.

Polyphenols have unique cellular effects that are distinct from antioxidant function in Toll-like receptor 4-mediated inflammation in RAW264.7 macrophage-like cells.

Plant polyphenols are bioactive compounds touted for their antioxidant effects, and this is often the primary attribute used to explain their health benefits. However, we hypothesize that polyphenols have molecular properties independent of antioxidant function. The objective of this study was to investigate whether polyphenols had distinct molecular effects compared to pure antioxidants.