Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.

Background: Nance-Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature.

Clinical, Analytical, and Echocardiographic Associations of Impaired Cardiorespiratory Fitness After Anthracycline Chemotherapy in Breast Cancer: EPIC Fitness Study.

Purpose: This study explores the effects of anthracycline chemotherapy (AC) on breast cancer patients, focusing on changes in body composition, advanced echocardiographic parameters at rest and during exercise, and biomarkers; and subsequently assesses whether these parameters are associated with impaired cardiorespiratory fitness (CRF).

Methods: In this prospective study, we evaluated women with early-stage breast cancer undergoing AC at three visits: before AC, 1 month after, and 6 months post-AC.

Results: The study included 32 women with breast cancer, with functional disability increasing from 9.

Ghostly intrusion on a frightful Halloween night: a case report of dual valve endocarditis.

Multivalvular endocarditis (MVE) is an uncommon presentation and mostly involves mitral and aortic valves. Here, we present a case of an MVE with an unusual and bizarre presentation on a Halloween night with a massive degree of valve destruction and right- and left-side involvement requiring emergent surgery. A 51-year-old male patient with intravenous drug usage presented with anorexia, fever, and dyspnea, rapidly progressing to septic shock with multiorgan dysfunction.

Short- and long-term outcomes of percutaneous left atrial appendage occlusion in cancer patients.

Introduction And Objectives: Percutaneous left atrial appendage occlusion (LAAO) is a viable option to mitigate bleeding and stroke risks in patients with atrial fibrillation (AF) who are not eligible for oral anticoagulation. Its safety and efficacy in cancer patients remain unclear due to their exclusion from trials. This study aimed to compare short- and long-term LAAO outcomes between cancer and non-cancer patients.

Remote monitoring of cardiac implantable electronic devices to predict acute clinical decompensation events.

Background: Heart failure (HF) patients are at constant risk of decompensation, and urgent hospital admissions can be life-threatening events. Monitoring biological variables has been proved to be an important mechanism to anticipate decompensations. TriageHF is a validated diagnostic algorithm tool available on Medtronic® cardiac implantable electronic devices that combines physiological data to stratify a patient's risk of HF hospitalization in the following 30 days in low, medium or high risk.