ABSTRACT
Background: Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy with an estimated prevalence of 1 per 20.000 and a normal life expectancy in the majority of patients. However, approximately 15% of patients become wheelchair bound in the course of their life. It is a hereditary autosomal dominant disease with high (95%) penetrance by the age of 20, but with variable degree of phenotypic expression even in the same family group. Symptoms frequently start in the second decade of life, with facial and scapular weakness. Aim: To report the clinical features of seven patients with the disease, seen at a public hospital. Material and Methods: Analysis of seven patients with genetic study seen in a public Hospital in Santiago. Results: The age of patients fluctuated from 18 to 61 years and four were females. The mean age at onset of symptoms was 29 years and four had a family history of the disease. The usual presenting complaint was arm or shoulder asymmetric weakness. Four patients had bone pain. Facial involvement was present in four. A genetic study was done in five patients, the other two patients were relatives, confirming the contraction or lower number of repetitions in D4Z4 region. After 12 years of follow up only 2 patients older than 60 years cannot work and one female patients is in a semi dependent state at the age of 30. Conclusions: The clinical workup in the diagnosis and the timely indication of genetic studies are highlighted, to avoid unnecessary and invasive procedures. The variability in the phenotypic expression in a similar genetic defect is discussed and the genetic or epigenetic mechanisms of this muscular dystrophy are described.
Subject(s)
Animals , Female , Humans , Male , Mice , Bacterial Proteins/immunology , Gene Expression Regulation, Bacterial/immunology , Lipoproteins/immunology , Pneumonia, Pneumococcal/immunology , Streptococcus pneumoniae/immunology , /immunology , Bacterial Proteins/genetics , Disease Models, Animal , Gene Expression Regulation, Bacterial/genetics , Immunologic Deficiency Syndromes/genetics , Immunologic Deficiency Syndromes/immunology , Immunologic Deficiency Syndromes/pathology , Interleukin-1 Receptor-Associated Kinases/genetics , Interleukin-1 Receptor-Associated Kinases/immunology , Lipoproteins/genetics , Macrophages/immunology , Macrophages/pathology , Mice, Knockout , NF-kappa B/genetics , NF-kappa B/immunology , Pneumonia, Pneumococcal/genetics , Pneumonia, Pneumococcal/pathology , Streptococcus pneumoniae/genetics , /genetics , /genetics , /immunology , Tumor Necrosis Factor-alpha/genetics , Tumor Necrosis Factor-alpha/immunologyABSTRACT
El Fondo Nacional de Recursos, persona pública no estatal, financió más de 15.500 actos de medicina altamente especializada en el año 2004. Ese año agregó a las acciones complementarias (programas de prevención secundaria), la prevención de infecciones por influenza y neumococo por la vacunación, justificado por las recomendaciones internacionales al ser pacientes con factores de riesgo y debido a que la estrategia es costo-beneficio y costo-efectiva. Lograr el mayor porcentaje de vacunación en los pacientes asistidos en determinados actos y en determinados centros, que por patología o por edad cumplen con la recomendación de la vacunación. La estrategia fue clínica y de acciones individuales. Se realizó bajo protocolo durante todo el año para la vacunación contra el neumococo y dos meses para la vacunación antigripal. Esta última se complementó con una encuesta no aleatoria, representativa en el número de personas según estimación de proporciones. El Fondo Nacional de Recursos, financió 15.581 actos en 2004. Los actos del programa fueron hemodinamia, marcapasos, artroplastia y diálisis crónica. El universo fue 9.100 pacientes, la muestra de los centros seleccionados (total 42) fue de 6.945, se consultó 5.576 pacientes (80,3 por ciento) y 2.644 se vacunaron contra neumococo (38,1 por ciento). Los pacientes en diálisis crónica fueron los que mejor adhirieron al programa (51,9 por ciento). Existen dificultades en la vacunación de los adultos para desarrollar una estrategia de prevención secundaria en población de riesgo, como es la falta de aceptación previa del equipo de salud como estimulador de la misma.
Subject(s)
Communicable Disease Control , Vaccination Coverage , Immunization Programs , Patient Selection , Communicable Disease Control/prevention & control , Risk Factors , Risk Groups , Mass Vaccination/methods , Viral Vaccines/therapeutic use , Cost-Benefit Analysis , Influenza, Human/prevention & control , Pneumonia, Pneumococcal/pathology , Public Health , Uruguay/epidemiologyABSTRACT
Organizing Lobar Pneumonia is a rare form of Bronchiolitis Obliterans Organizing Pneumonia. Herein, we report a rare case of organizing pneumonia involving lung, mediastinum and esophagus. A 16-year-old girl was referred to our center with clinical signs and symptoms of dysphagia and weight loss. The main abnormal radiologic and endoscopic findings were stricture of the lower third of esophagus and calcified lobar pneumonia of the lung. Pathologic examination of biopsies taken from esophageal stricture and resected lung revealed fibrosis and organizing lobar pneumonia. This combination, to our knowledge, has not been reported previously