Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model.

The ACTA2 gene encodes actin α2, a major smooth muscle protein in vascular smooth muscle cells. Missense variants in the ACTA2 gene can cause inherited thoracic aortic diseases with characteristic symptoms, such as dysfunction of smooth muscle cells in the lungs, brain vessels, intestines, pupils, bladder, or heart. We identified a heterozygous missense variant of Gly148Arg (G148R) in a patient with a thoracic aortic aneurysm, dissection, and left ventricular non-compaction.

Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites.

Objective: To examine whether it is possible to screen for bile acid synthesis disorders (BASDs) including peroxisome biogenesis disorder 1a (PBD1A) and Niemann-Pick type C1 (NPC1) at the time of newborn mass screening by measuring the intermediary metabolites of bile acid (BA) synthesis.

Methods: Patients with 3β-hydroxy-ΔSuchy et al. (2021)-C-steroid dehydrogenase/isomerase (HSD3B7) deficiency (n = 2), 3-oxo-ΔPandak and Kakiyama (n.

A Seven-Year-Old Girl With Dysphagia Due to Fear of Swallowing: A Favorable Outcome With Cognitive Behavioral Therapy Using an Anxiety Hierarchy Chart.

Avoidant/restrictive food intake disorder (ARFID) is an eating disorder characterized by avoidance and aversion to food and eating. Food restriction is not due to a body image disturbance but rather to an anxiety or phobia of food and eating or abnormal hypersensitivity to food, such as its texture, taste, or smell, or a lack of interest in food/eating. We herein report a seven-year-old girl with dysphagia due to a fear of swallowing with a favorable outcome thanks to cognitive behavioral therapy using an anxiety hierarchy chart.

Acute myeloid leukemia associated with CHARGE syndrome.

CHARGE syndrome is a malformation disorder with diverse phenotypes that shows autosomal dominance with heterozygous variants in the chromodomain helicase DNA-binding 7 (CHD7) gene. Only a few cases of CHARGE syndrome accompanied by neoplasm during childhood have been reported. We report the case of a girl with CHARGE syndrome who developed acute myelogenous leukemia at 12 years old.