A Possible Case of Centronuclear Myopathy: A Case Report.

Congenital myopathies (CMs) are a group of diseases that primarily affect the muscle fiber, especially the contractile apparatus and the different components that condition its normal functioning. They present as muscle weakness and hypotonia at birth or during the first year of life. Centronuclear CM is characterized by a high incidence of nuclei located centrally and internally in muscle fibers. Clinical case: a 22-year-old male patient with symptoms of muscle weakness since early childhood, with difficulty in performing physical activity according to his age, with the presence of a long face, a waddling gait, and a global decrease in muscle mass. Electromyography was performed, showing a neurogenic pattern and not the expected myopathic one, neuroconduction with reduced amplitude of the motor potential of the peroneal nerve and axonal and myelin damage of the posterior tibial nerves. The microscopic study of the studied striated muscle fragments stained with hematoxylin-eosin and Masson's trichrome showed the presence of fibers with central nuclei, diagnosing CM. The patient meets most of the description for CM, with involvement of all striated muscles, although it is important to note the neurogenic pattern present in this case, due to the denervation of damaged muscle fibers, which contain terminal axonal segments. Neuroconduction shows the involvement of motor nerves, but with normal sensory studies, axonal polyneuropathy is unlikely, due to normal sensory potentials. Different pathological findings have been described depending on the mutated gene in this disease, but all coincide with the presence of fibers with central nuclei for diagnosis by this means, which is so important in institutions where it is not possible to carry out genetic studies, and allowing early specific treatment, according to the stage through which the patient passes.

Producción cientifica cubana sobre Angiostrongylus cantonensis. 1981-2015 / Cuban scientific production of Angiostrongylus cantonensis.1981-2015

Introducción: En 1981 aparece por primera vez reportado en Cuba y en el hemisferio occidental el helminto Angiostrongylus cantonensis. Objetivo: caracterizar la producción científica cubana sobre Angiostrongylus cantonensis en el período 1981-2015. Material y Métodos: Se consultaron las bases de datos Google Académico, Medline (PubMed), ScieELO Regional, CUMED, IBECS, LILACS y se recuperaron todos los trabajos hechos o no con la colaboración de investigadores de otros países.Se relacionan las revistas, se hallan las redes de autoría por el programa UCINET y la frecuencia de publicaciones por año por GoPubMed. Para caracterizar a los autores más productivos en el tema se empleó Publish or perish y su familia de índices. Resultados: De este periodo se recuperaron 40 artículos de autores cubanos. El número de artículos por autores más productivos oscila entre 14 y 22 trabajos. Las revistas que más artículos de autores cubanos han publicado son la Revista Cubana de Medicina Tropical, la Revista de Neurología y la American Journal of Tropical Medicine and Higiene. Los idiomas utilizados han sido el español e inglés. El promedio de citas por artículo es de 9,92. La red de colaboración más fuerte encontrada fue la de los investigadores de LABCEL y se destaca la colaboración con Ecuador. Conclusiones: Existe un grupo de autores cubanos que han publicado sobre el tema y han establecido redes de colaboración que ganan en participación, en países del área, por la expansión del parásito y sus consecuencias en el hospedero(AU)

Introduction: In 1981, Angiostrongylus cantonensis was first reported in Cuba and in the Western Hemisphere. Objective: To characterize the scientific Cuban production during the years 1981-2015. Materials and Methods: Google Academic, Medline(PubMed), SciELO, CUMED, IBECS and LILACS databases were consulted, retrieving all the published papers from Cuban authors with or without the cooperation of foreign researchers. Journal and authors network were listed using UCINET and yearly frequency using GoPubMed software respectively. Most productive authors were characterized using Publish or perish and also its family index. Results: During the above mentioned period, 40 papers were collected from Cuban authors. The most productive authors published were between 14 and 22 papers. Revista Cubana de Medicina Tropical, Revista de Neurología and American Journal of Tropical Medicine and Hygiene were the journals where the Cuban authors have published more articles. Spanish and English languages were used. The average of Articles references was 9,92. The strongest collaboration network was LABCEL, collaboration with Ecuador stood out. Conclusions: There is a group of Cuban authors that have been publishing about this topic and a collaboration networks were established with a wider used among other regional countries due to the expansion of the parasite and its consequence on the host(AU)