Treatment effects of CFTR modulators on people with cystic fibrosis carrying the Q359K/T360K variant.

https://bit.ly/45DjFw9.

A novel variant in the ABCA1 gene for Tangier Disease with diffuse histiocytosis of bone marrow.

Tangier disease is an extremely rare autosomal recessive monogenic disorder caused by mutations in the ATP binding cassette transporter A1 gene (ABCA1). It is characterized by severe deficiency or absence of high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA1), with highly variable clinical presentations depending on cholesterol accumulation in macrophages across different tissues. We report a case of a 47-year-old man with very low HDL-C and very high triglyceride levels, initially attributed to the patient's metabolic syndrome, alcohol abuse, and splenomegaly.

Peripheral Axonal Neuropathy in Hemophagocytic Lymphohistiocytosis Secondary to Rickettsia conorii Infection.

Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially fatal hyperinflammatory syndrome characterized by dysregulated immune activation and systemic inflammation. Secondary HLH is often triggered by infections, with being an infrequently reported cause. Peripheral axonal neuropathy is a rare and poorly understood complication of HLH.

Reassessing cardiovascular risk stratification in men with erectile dysfunction.

Background And Objectives: Erectile dysfunction (ED) is an independent and strong marker of cardiovascular disease (CVD) risk. The Princeton Consensus aimed to evaluate and manage cardiovascular risk in men with ED and no known cardiovascular disease, focusing on identifying those requiring additional cardiologic work-up. It has recently been updated to the American population demographics, but European recommendations are needed.

Influence of different cavity disinfectants on composite adhesion to dentin of primary teeth: An study.

Restorative treatment is the most common approach to treating dental caries. However, after cavity preparation, some microorganisms may still persist in the substrate, suggesting the use of cavity disinfectants. Nevertheless, their effect on adhesion to composite resins is not yet fully understood, especially in primary teeth.