RESUMEN
Type 2 diabetes mellitus is a major health problem with high prevalence, morbidity and mortality, and its medical treatment is growing in complexity due to patients' diverse clinical conditions. This article presents a consensus document by the Diabetes, Obesity and Nutrition Group of the Spanish Society of Internal Medicine, with recommendations for the medical treatment of type 2 diabetes mellitus. The main objective of this article is to facilitate the therapeutic decision-making process to improve the care of patients with diabetes. The document prioritises treatments with cardiovascular benefits, especially those that benefit patients with heart and renal failure.
RESUMEN
INTRODUCTION: Limb Girdle Muscular Dystrophy type 2C (LGMD2C) is an autosomal recessive dystrophy due to the deficit of gamma-sarcoglycan, one of the proteins of the dystrophin-associated proteins complex (DAP). A new mutation in the gamma-sarcoglycan gene, 13q12, has been described recently and is exclusive of the gypsy community. OBJECTIVE: To describe the clinicopathological and the genetic findings of eleven cases from a Spanish gypsy family with LGMD2C and the mutation C283Y. MATERIAL AND METHODS: We describe a large gypsy family with the C283Y mutation and eleven affected patients. We have performed an extensive clinical and pathological study with immunohistochemistry and Western blot analyses in the eleven patients and a genetic study of a total of twenty-seven members of the family. RESULTS: The patients presented a severe muscular dystrophy with a dystrophic pattern in the muscle biopsy, normal immunolabeling for dystrophin, very weak for alpha-, beta- and delta-sarcoglycan and absent for gamma-sarcoglycan. These eleven patients were found to be homozygous for the mutation and twelve other members of the family, heterozygous. CONCLUSIONS: The clinical picture and the evolution of the disease herein described is similar to that observed in DMD. Two fundamental differences were found: the autosomal recessive mode of inheritance, and the normal immunohistochemistry and immunoblot for dystrophin in the skeletal muscle.
Asunto(s)
Cromosomas Humanos Par 13/genética , Proteínas del Citoesqueleto/deficiencia , Glicoproteínas de Membrana/deficiencia , Distrofias Musculares/genética , Mutación Puntual , Adolescente , Adulto , Biopsia , Niño , Preescolar , Consanguinidad , Proteínas del Citoesqueleto/genética , Proteínas del Citoesqueleto/metabolismo , Distrofina/análisis , Electromiografía , Femenino , Genes Recesivos , Genotipo , Humanos , Masculino , Glicoproteínas de Membrana/genética , Glicoproteínas de Membrana/metabolismo , Músculo Esquelético/química , Músculo Esquelético/patología , Distrofias Musculares/etnología , Distrofias Musculares/metabolismo , Distrofias Musculares/patología , Linaje , Fenotipo , Romaní/genética , Sarcoglicanos , Escoliosis/etnología , Escoliosis/genéticaRESUMEN
OBJECTIVES: To review the up-dated classification of limb girdle muscular dystrophies (LGMDs) in relation to the defective protein and the genetic abnormality. To explain how these proteins are related to dystrophin and to the proteins of the extracellular matrix. To show that an accurate diagnosis is necessary and that it can be adequately made in neuromuscular pathology laboratories. DEVELOPMENT: We present a study of the different types of LGMDs, dystrophinopathies and congenital muscular dystrophy. We emphasize the recent events which concluded in the identification of these disorders, the genetic alteration, the defective proteins and, briefly, the clinical features. CONCLUSIONS: The recent identification of numerous skeletal muscle proteins and of the codifying genes made possible a new classification of a large group of muscular dystrophies. The possibility to study these proteins on the muscle biopsy with immunohistochemistry and Western blot techniques indicates the need of an accurate diagnosis in specialized neuromuscular laboratories. Since there is a great number of genes discovered and of mutations within the same gene, and the clinical picture of different diseases can be similar, a previous study of the protein is advisable as a guide for a further genetic study.