Recessive but damaging alleles of muscle-specific ribosomal protein gene drive neonatal dilated cardiomyopathy.

The heart employs a specialized ribosome in its muscle cells to translate genetic information into proteins, a fundamental adaptation with an elusive physiological role. Its significance is underscored by the discovery of neonatal patients suffering from often fatal heart failure caused by rare compound heterozygous variants in RPL3L, a muscle-specific ribosomal protein that replaces the ubiquitous RPL3 in cardiac ribosomes. -linked heart failure represents the only known human disease arising from mutations in tissue-specific ribosomes, yet the underlying pathogenetic mechanisms remain poorly understood despite an increasing number of reported cases.

Rapid identification and phenotyping of nonalcoholic fatty liver disease patients using a machine-based approach in diverse healthcare systems.

Nonalcoholic fatty liver disease (NAFLD) is the most common global cause of chronic liver disease and remains under-recognized within healthcare systems. Therapeutic interventions are rapidly advancing for its inflammatory phenotype, nonalcoholic steatohepatitis (NASH) at all stages of disease. Diagnosis codes alone fail to recognize and stratify at-risk patients accurately.

Prediction of new-onset atrial fibrillation in patients with hypertrophic cardiomyopathy using machine learning.

Aims: Atrial fibrillation (AF) is the most common sustained arrhythmia among patients with hypertrophic cardiomyopathy (HCM), leading to increased symptom burden and risk of thromboembolism. The HCM-AF score was developed to predict new-onset AF in patients with HCM, though sensitivity and specificity of this conventional tool are limited. Thus, there is a need for more accurate tools to predict new-onset AF in HCM.

Influence of zonular tension on molecular transport in the porcine ocular lens.

Introduction: Accommodation is the process of changing the ocular lens' refractive power and focal distance. This process involves application of biomechanical forces on the lens by the surrounding musculature. Previous studies have demonstrated that the lens epithelium demonstrates mechanotransduction and that tension influences its chemical activity.

Comment on Drozdowska-Szymczak et al. Incidence and Risk Factors of Cholestasis in Newborns with Hemolytic Disease-A Case-Control Study. 2024, , 3190.

We read with interest the recently published article in the , by Drozdowska-Szymczak et al [...