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Alejandra Mampel, María Inés Echeverría, Ana Lía Vargas, María Roque
The Duchenne/Becker muscular dystrophy is a hereditary miopathy with a recessive sex-linked pattern. The related gene is called DYS and the coded protein plays a crucial role in the anchorage between the cytoskeleton and the cellular membrane in muscle cells. Different clinical manifestations are observed depending on the impact of the genetic alteration on the protein. The global register of mutations reveals an enhanced frequency for deletions/duplications of one or more exons affecting the DYS gene. In the present work, numeric alterations have been studied in the 79 exons of the DYS gene...
2011: Medicina
Erika Santos Corraliza, Aurelio Fuertes Martín
The introduction of highly active antiretroviral therapy for the treatment of human immunodeficiency virus (HIV) infection has led to substantial reduction in morbidity and near-complete suppression of HIV-1 replication. This progress has been tempered by a growing number of new adverse effects. Mitochondrial toxicity is one aspect of these long-term toxicities of antiretroviral drugs, with the role of nucleoside analogs being particularly underlined. Some cases of impaired mitochondrial function have been clearly identified, such as pancreatitis, neuropathy, miopathy and lactic acidosis...
March 3, 2007: Medicina Clínica
J M García Martínez
Morbidity and mortality derived from asthma continue to be a main public health problem in many countries, in spite of the advances in the knowledge on the disease and its treatment. There are several risk factors for asthma attack which have to be considered in the management of patients in order to prevent exacerbations and mortality. Smooth bronchial muscle constriction and inflammation with oedema of the bronchial wall are the facts that cause airway flow and resistance disturbances, with hyperinflation, leading to a bigger respiratory work...
March 1999: Allergologia et Immunopathologia
P Giulotto, A Martelli, M Cordini, L Bagnato, P Portioli, R Rusconi
We have studied the number of important bleeds in our patients with respect to the age group in order to find criteria for putting the hemophilic child on an effective continuous prophylactic regime as early as possible. The bleeding sites are shown in the Tables. 48 children with severe hemophilia were studied. We observed an increase in bleeds with an increase in age. This increase in bleeds and their recurrence in preferential sites in a high percentage (48%) of these children indicate a higher exposure to trauma in part, and a gradual incipience of an arthro-miopathy as well...
May 1983: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
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