A conserved role for ALG10/ALG10B and the -glycosylation pathway in the sleep-epilepsy axis.

Congenital disorders of glycosylation (CDG) comprise a class of inborn errors of metabolism resulting from pathogenic variants in genes coding for enzymes involved in the asparagine-linked glycosylation of proteins. Unexpectedly to date, no CDG has been described for , encoding the alpha-1,2-glucosyltransferase catalyzing the final step of lipid-linked oligosaccharide biosynthesis. Genome-wide association studies (GWAS) of human traits in the UK Biobank revealed significant SNP associations with short sleep duration, reduced napping frequency, later sleep timing and evening diurnal preference as well as cardiac traits at a genomic locus containing a pair of paralogous enzymes and .

Computed tomography morphomics and antifibrotic therapy in idiopathic pulmonary fibrosis.

Aim: Idiopathic pulmonary fibrosis (IPF) is a debilitating and fatal lung disease. Changes in body composition potentially correlate with outcomes in patients with IPF.

Materials And Methods: Patients with IPF on antifibrotic treatment attending a single institution were identified and retrospectively evaluated (n=84).

A rapid turnaround time workflow for a cytological liquid biopsy assay using FNA supernatant specimens.

Background: Genomic profiling is essential in the management of non-small cell lung cancer. However, this may often be challenging because of limited cytological tissue and extended turnaround time (TAT) for next-generation sequencing (NGS). This study aims to describe a rapid TAT workflow for molecular profiling using fine-needle aspiration (FNA) supernatants.

Intravenous thrombolysis in a stroke patient with a repaired aortic dissection.

Acute aortic dissection is considered a contraindication to the use of intravenous thrombolysis in patients presenting with acute ischaemic stroke, but less has been described about previously repaired dissections. We present a case of a woman in her 50s presenting with acute left hemiparesis with a known history of aortic dissection within the thrombolysis window. After multidisciplinary discussion with cardiothoracic surgery and discussion with the patient, she was treated with intravenous thrombolysis without complication.