Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria.

Homocystinuria due to cystathionine beta-synthase (CBS) deficiency is a rare metabolic disorder inherited as an autosomal recessive trait. Spectrum of genetic variants in gene and their correlation with the phenotypes of homocystinuria in Sri Lankan patients have not been reported to date. The objective of this study was to identify the genotypes and genotype-phenotype correlations in a cohort of Sri Lankan patients with homocystinuria due to CBS deficiency.

: A Long Noncoding Cis-Natural Antisense RNA That Plays a Role in the Regulation of the Cold Response of .

RNA plays important roles in the regulation of gene expression in response to environmental stimuli. , a long noncoding cis-natural antisense RNA, is a key component of regulating the response to cold temperature in . There are three mechanisms through which fine tunes the transcriptional response to cold temperatures.

Socioeconomic and Ethnic Disparities in Timing and Outcome of Interarytenoid Injection Augmentation.

Objectives: To investigate the relationship between social determinants of health and timeliness of management, adherence to follow-up, and outcomes of treatment with interarytenoid injection augmentation (IAIA).

Methods: Retrospective cohort study of all pediatric patients treated with IAIA at a large pediatric institution's multidisciplinary aerodigestive clinic between August 2022 and February 2024. Retrieved demographic factors, dates of referral, consultation, treatment, and follow-up, as well as objective measures of dysphagia and aspiration via videofluoroscopic swallow study (VFSS) reports, using dysphagia outcome and severity scale (DOSS) scores and the greatest unsafe thickness, or 'aspiration score'.