Phenotypes, Genotypes, Treatment, and Outcomes of 14 Children with Sitosterolemia at Vietnam National Children's Hospital.

: Sitosterolemia is a rare autosomal recessive disorder characterized by diverse clinical manifestations ranging from asymptomatic cases to the development of xanthomas, hypercholesterolemia, premature atherosclerosis, or even sudden death during childhood. It results from homozygous or compound heterozygous pathogenic variants in the or genes. Prompt detection and intervention are essential to managing this condition and preventing severe outcomes.

The efficacy of lavender oil on fatigue and sleep quality in patients with hematological malignancy receiving chemotherapy: a single-blind randomized controlled trial.

Purpose: The aim of this study is to evaluate how aromatherapy with the inhalation of lavender oil affects fatigue and sleep quality in patients with hematological malignancies undergoing chemotherapy.

Methods: This randomized, parallel-group study was carried out in the Adult Bone Marrow Transplant unit and Hematology-Oncology clinics between January 2022 and April 2023. A total of 120 patients were assigned to experimental and control groups by randomization.

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome in Vietnamese Patients.

: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH; OMIM 238970) is one of the rare urea cycle disorders. Ornithine carrier 1 deficiency causes HHH syndrome, characterized by failure of mitochondrial ornithine uptake, hyperammonemia, and accumulation of ornithine and lysine in the cytoplasm. The initial presentation and time of diagnosis in HHH highly varies.

Evaluation of potential links between phenotypic features and genetic variants in left ventricular outflow tract obstruction in hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging.

This study aimed to identify the phenotypic features contributing to the development of left ventricular outflow tract obstruction (LVOTO) in patients with hypertrophic cardiomyopathy (HCM) and to evaluate the genotype‒phenotype relationship. This cross-sectional study included 96 patients diagnosed with HCM (mean age: 56.9 ± 13.