A Rare Case of Autoimmune-Mediated Lecithin:Cholesterol Acyltransferase Insufficiency Manifesting as the Acute Onset of Extremely Hypo-High-Density Lipoprotein-Cholesterolemia and Spontaneous Improvement: A Case Report with a Review of the Literature.

A 59-year-old Japanese woman was referred for an extremely low level of circulating high-density lipoprotein cholesterol (HDL-C). The serum HDL-C level had long been within the normal range but suddenly decreased asymptomatically to 7 mg/dL. She had no typical symptoms associated with familial lecithin, cholesterol acyltransferase deficiency (FLD), including proteinuria, anemia, and corneal opacity.

Less frequent skin ulcers among patients with Werner syndrome treated with pioglitazone: findings from the Japanese Werner Syndrome Registry.

Background And Aim: Werner syndrome (WS) is an autosomal recessive, adult-onset, progeroid syndrome caused by mutations. As refractory skin ulcers significantly affect the quality of life of patients with WS, this study identified ulcer risk factors and assessed prevention methods.

Methods: We analyzed the data of 51 patients with WS enrolled in the Japanese Werner Syndrome Registry between 2016 and 2022.

Antibody Responses and Infection Prevention following the Sixth Vaccination using the BA.1 bivalent COVID-19 vaccine among Healthcare workers during the XBB variant Dominance in Japan.

The effect of antibodies elicited by bivalent mRNA vaccines (original and omicron BA.1) on preventing coronavirus disease 2019 (COVID-19) onset in the presence of the XBB variant remains unknown. A prospective cohort study conducted at Chiba University Hospital examined healthcare workers who received their sixth vaccination with the Pfizer-BioNTech COVID-19 bivalent mRNA vaccine (original and omicron BA.

Novel pathogenic variant in the LCAT gene in a compound heterozygous patient with fish-eye disease and a mild phenotype.

Background And Objective: Low HDL-cholesterol and corneal opacity are associated with fish-eye disease (FED), familial LCAT deficiency (FLD), ApoAI deficiency, and Tangier disease. The differential diagnosis is made by clinical and biochemical tests. Measuring the LCAT activity is the ideal way to distinguish conditions caused by LCAT gene variants (FED and FLD) from the other two diseases.