Neuromuscular Choristoma: Report of Five Cases With CTNNB1 Sequencing.

Neuromuscular choristoma (NMC) are lesions of the peripheral nervous system characterized by an admixture of skeletal muscle fibers and nerves fascicles that are frequently associated with desmoid fibromatosis (DF). Mutations in CTNNB1, the gene for β-catenin protein, are common in DF and related to its pathogenesis. They are restricted to exon 3, with 3 point mutations: T41A, S45F, and S45P.

Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center.

This study aimed to describe the clinical, genetic, and epidemiological features of Charcot-Marie-Tooth disease (CMT) in Brazilian patients from a tertiary center, and to compare our data with previously published findings. This retrospective observational study conducted between February 2015 and July 2020 evaluated 503 patients (94 families and 192 unrelated individuals), diagnosed with CMT. Clinical and neurophysiological data were obtained from electronic medical records and blood samples were used for genetic analyses.

[Frequency of ocular changes in patients with Hansen's disease living in a colony hospital].

Purpose: To identify the frequency of ocular changes in patients with Hansen's disease, living in a colony hospital; to confirm the predilection for the anterior segment of the eye instead of the posterior segment.

Methods: Transversal study of 115 eyes of 58 in-patients at João Paulo II colony, Marituba-Pará, from August to October 1999. The epidemiologic data of this research were obtained from the patients' charts and from information obtained at clinical eye examination.