A Clinical Multicenter Trial of Recombinant Human Interferon Gamma in Tuberculosis (GAM2022) Experience with the Use of Human Recombinant Interferon Gamma in TB Practice.

Background: In this article, we present the results of a multicenter clinical trial of IFN-γ in patients with drug-susceptible and drug-resistant pulmonary Tuberculosis (TB) in routine clinical practice.

Objective: This study aimed to confirm the efficacy and safety of IFN-γ administered to patients with TB.

Methods: All patients were diagnosed with TB after being tested by bacterioscopic and molecular genetic methods and had no contraindications to standard chemotherapy.

Expanding the Genotypic and Phenotypic Spectrum of -Related Conditions: Three More Cases.

Introduction: Pathogenic variants in the gene are linked to a spectrum of syndromes that exhibit partial clinical overlap. Hemizygous loss-of-function variants are considered lethal in males, while heterozygous loss-of-function variants generally result in oro-facial-digital syndrome type 1. A reported phenotype, Simpson-Golabi-Behmel syndrome type 2, was published once but remains controversial, with many specialists questioning its validity and arguing about its continued listing in the OMIM database.

The frequent variant A57F in the gene in patients from Russia has Finno-Ugric Mari origin.

Introduction: GNE-myopathy is a distal myopathy with adult-onset and initial involvement of anterior leg compartment. A founder effect has been demonstrated for some patients from several large cohorts in different countries.

Methods: In this study, we investigated the allele frequency of the c.

Asymmetric scapuloperoneal phenotype of -related distal myopathy: case series.

Recent research has sparked a discussion on the spectrum of diseases linked to the gene associated with amyotrophic lateral sclerosis and distal myopathy with vocal cord and pharyngeal weakness (VCPDM). To date, fewer than 50 cases of VCPDM have been reported in the literature. We aim to build upon the work of previous researchers by gathering additional information about VCPDM.