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Background: Dysferlinopathies represent a group of limb girdle or distal muscular dystrophies with an autosomal-recessive inheritance pattern resulting from the presence of pathogenic variants in the dysferlin gene (DYSF)., Objective: In this work, we describe a population from a small city in Brazil carrying the c.5979dupA pathogenic variant of DYSF responsible for limb girdle muscular dystrophy type 2R and distal muscular dystrophy., Methods: Genotyping analyses were performed by qPCR using customized probe complementary to the region with the duplication under analysis in the DYSF., Results: A total of 104 individuals were examined. c.5979dupA was identified in 48 (46.15%) individuals. Twenty-three (22%) were homozygotes, among whom 13 (56.5%) were female. A total of 91.3% (21) of homozygous individuals had a positive family history, and seven (30.4%) reported consanguineous marriages. Twenty-five (24%) individuals were heterozygous (25.8±16 years) for the same variant, among whom 15 (60%) were female. The mean CK level was 697 IU for homozygotes, 140.5 IU for heterozygotes and 176 IU for wild-type homo-zygotes. The weakness distribution pattern showed 17.3% of individuals with a proximal pattern, 13% with a distal pattern and 69.6% with a mixed pattern. Fatigue was present in 15 homozygotes and one heterozygote., Conclusion: The high prevalence of this variant in individuals from this small community can be explained by a possible founder effect associated with historical, geographical and cultural aspects., Competing Interests: The authors declare no conflict of interest, financial or otherwise., (© 2023 Bentham Science Publishers.)

This study assessed the efficacy of a pulmonary rehabilitation (PR) on pulmonary and respiratory muscle function and thickness of quadriceps femoris and diaphragm of patients with post-COVID-19 syndrome. This series of cases followed nine patients who performed PR twice a week for six weeks. Patients received the following PR program: lung expansion therapy; respiratory muscle training; upper limb strength exercises; aerobic exercises on a treadmill. After the program, we observed increased peak expiratory flow (26.03%), forced vital capacity (FVC) (7.14%), forced expiratory volume in the first second (FEV1) (9.55%), and ratio between FEV1/FVC (6.19%). All parameters of respiratory muscle strength and endurance were improved. Diaphragmatic thickening fraction and thickness of quadriceps femoris also improved, whereas echo intensity of quadriceps reduced. Thus, RP protocol improved pulmonary function, respiratory muscle strength and endurance, and thickness of diaphragm and quadriceps femoris, and reduced echo intensity of quadriceps in patients with post-COVID-19 syndrome.

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Copyright of Journal of Nursing UFPE / Revista de Enfermagem UFPE is the property of Revista de Enfermagem UFPE and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of Nursing UFPE / Revista de Enfermagem UFPE is the property of Revista de Enfermagem UFPE and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)