Deep phenotyping of patients with MASLD upon high-intensity interval training.

Background & Aims: Exercise is a key component of lifestyle management in patients with metabolic dysfunction-associated steatotic liver disease (MASLD), but neither its therapeutic effect on the active stage of the disease, that is metabolic dysfunction-associated steatohepatitis (MASH) nor the mediating mechanisms have been characterized. Therefore, we performed multi-omic phenotyping of patients with MASLD-MASH on an exercise program.

Methods: Fifteen patients with MASLD conducted high-intensity interval training (HIIT) combined with home-based training for 12 weeks.

Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed.

Most genetic variants associated with complex traits and diseases occur in non-coding genomic regions and are hypothesized to regulate gene expression. To understand the genetics underlying gene expression variability, we characterize 14,324 ancestrally diverse RNA-sequencing samples from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program and integrate whole genome sequencing data to perform and expression and splicing quantitative trait locus (-/trans-e/sQTL) analyses in six tissues and cell types, most notably whole blood (N=6,454) and lung (N=1,291). We show this dataset enables greater detection of secondary cis-e/sQTL signals than was achieved in previous studies, and that secondary cis-eQTL and primary trans-eQTL signal discovery is not saturated even though eGene discovery is.

Corrigendum to "Patient perceptions of video directly observed therapy for tuberculosis: a systematic review" [J. Clin. Tuberc. Other Mycobact. Dis 35 (2024) 100406].

[This corrects the article DOI: 10.1016/j.jctube.

Efficacy of rituximab on antibody-positive small fiber neuropathy: A series of 5 cases.

Background & Aims: We evaluated the efficacy of rituximab in patients with anti-TS-HDS, anti-FGFR3 and anti-plexin D1 small fiber neuropathy (SFN) who failed to respond to conventional treatments and immunotherapy.

Methods: We reviewed 111 patients diagnosed with SFN - 83 definite SFN, 9 had positive antibody titers towards TS-HDS, FGFR3 or plexin-D1 and received symptomatic treatment, in addition to trials of intravenous immunoglobulin (IVIg) and/or corticosteroids. Five patients who failed to respond were offered rituximab (two intravenous 1 g infusions, two weeks apart).

Fundus Curvature as a Clinical Marker for Posterior Staphyloma Based on Widefield Optical Coherence Tomography.

Purpose: To investigate the ability to quantify fundus curvature and detect posterior staphyloma using widefield optical coherence tomography (OCT).

Design: Cross-sectional diagnostic evaluation.

Methods: This study reviewed 205 highly myopic eyes of 205 participants.