RESUMO
Muscular dystrophies are a group of well-defined genetic disorders characterized by the variable distribution of muscle wasting and progressive weakness. The diagnosis and treatment of these diseases remain challenging due to genetic heterogeneity and clinical overlapping. Herein, we describe our 10 years' experience with the diagnosis and management of muscular dystrophy patients. In total, 169 patients were screened for pathogenic variants in eleven genes linked to frequent muscular dystrophies using MLPA and NGS sequencing panels. Most frequent muscular dystrophies found in the Mexican population were dystrophinopathies, dysferlinopathies and calpainopathies. Novel variants were found in genes: DMD, CAPN3, DYSF, and FKRP. For Duchenne muscular dystrophy, improvements in early diagnosis and prolonged ambulation were achieved, on the contrary, for limb-girdle muscular dystrophies and congenital muscular dystrophies, uncomplimentary follow-up and lack of detection strategies were observed. For most common muscular dystrophies, improvements in diagnosis and management have been achieved in the last 10 years, due to a collaborative effort done nationwide.
Assuntos
Distrofia Muscular do Cíngulo dos Membros , Distrofias Musculares , Testes Genéticos , Humanos , México , Distrofias Musculares/diagnóstico , Distrofias Musculares/genética , Distrofia Muscular do Cíngulo dos Membros/genética , PentosiltransferasesRESUMO
We evaluated the physicochemical properties and oxidative stability of the oil extracted from the seeds of Moringa oleifera during its refining process. Refining is accomplished in three stages: neutralization, degumming, and bleaching. Four samples were analyzed, corresponding to each step of the processed and crude oil. Increases in the density, viscosity, saponification value and oxidation of the oil were detected during the refining, while the peroxide value and carotenoid content diminished. Moreover, the refractive index and iodine content were stable throughout the refining. Nine fatty acids were detected in all four samples, and there were no significant differences in their composition. Oleic acid was found in the largest amount, followed by palmitic acid and behenic acid. The crude, neutralized, and degummed oils showed high primary oxidation stability, while the bleached oil had a low incidence of secondary oxidation.
Assuntos
Manipulação de Alimentos/métodos , Moringa oleifera/química , Óleos de Plantas/química , Sementes/química , Carotenoides/análise , Fenômenos Químicos , Ácidos Graxos/análise , Ácido Oleico/análise , Oxirredução , Ácido Palmítico/análiseRESUMO
Novel therapeutic approaches are emerging to restore dystrophin function in Duchenne Muscular Dystrophy (DMD), a severe neuromuscular disease characterized by progressive muscle wasting and weakness. Some of the molecular therapies, such as exon skipping, stop codon read-through and internal ribosome entry site-mediated translation rely on the type and location of mutations. Hence, their potential applicability worldwide depends on mutation frequencies within populations. In view of this, we compared the mutation profiles of the populations represented in the DMD Leiden Open-source Variation Database with original data from Mexican patients (n = 162) with clinical diagnosis of the disease. Our data confirm that applicability of exon 51 is high in most populations, but also show that differences in theoretical applicability of exon skipping may exist among populations; Mexico has the highest frequency of potential candidates for the skipping of exons 44 and 46, which is different from other populations (p < 0.001). To our knowledge, this is the first comprehensive comparison of theoretical applicability of exon skipping targets among specific populations.