RESUMO
La Osteoporosis es un síndrome altamente prevalente en la población mayor, tanto la que ha sufrido fracturas como la que no. Aunque con frecuencia se le relaciona con la menopausia, existen varios otros elementos involucrados en su génesis. Estos frecuentemente coexisten en diversa proporción y son, por lo general, oligosintomáticos o generan signosintomatología muy inespecífica. Esto hace que su diagnóstico y tratamiento se retrase u omita, aumentando el riesgo de caídas y fracturas, y dificultando los procesos de consolidación ósea. Aunque su nivel de evidencia es aún diverso, frecuentemente son hallados cuando se implementa su búsqueda en pacientes mayores fracturados. Por lo que, con independencia de si su relación con la osteoporosis es o no significativa, conviene buscarlos y manejarlos por el riesgo que constituyen por sí mismos. En esta revisión nos referiremos a cuatro de estas condiciones: Hipoalbuminemia, hiponatremia, anemia y deficiencia de vitamina K.
Osteoporosis is very prevalent in the aged and is seen in both those who have suffered fractures and those who have not. Frequently related to the menopause, there are other elements involved in its pathogenesis. These frequently co-exist and are, generally, oligo-symptomatic or have non-specific symptomatology. This causes delays or omissions in their diagnosis and treatment, thereby increasing the risk of falls and fractures and interfering with bone consolidation. Although their evidence levels are diverse, these factors are frequently to be found once directly looked for in the aged fracture patient. Therefore, even though their relation to the osteoporosis may not be significant, it is best to test for them and treat them for the risk they present. In this review we look at four of these conditions: hypoalbuminemia, hyponatremia, anemia and vitamin K deficiency
RESUMO
Patients with adenosine deaminase (ADA) deficiency exhibit spontaneous and partial clinical remission associated with somatic reversion of inherited mutations. We report a child with severe combined immunodeficiency (T-B- SCID) due to ADA deficiency diagnosed at the age of 1 month, whose lymphocyte counts including CD4+ and CD8+ T and NK cells began to improve after several months with normalization of ADA activity in Peripheral blood lymphocytes (PBL), as a result of somatic mosaicism caused by monoallelic reversion of the causative mutation in the ADA gene. He was not eligible for haematopoietic stem cell transplantation (HSCT) or gene therapy (GT); therefore he was placed on enzyme replacement therapy (ERT) with bovine PEG-ADA. The follow-up of metabolic and immunologic responses to ERT included gradual improvement in ADA activity in erythrocytes and transient expansion of most lymphocyte subsets, followed by gradual stabilization of CD4+ and CD8+ T (with naïve phenotype) and NK cells, and sustained expansion of TCRγδ+ T cells. This was accompanied by the disappearance of the revertant T cells as shown by DNA sequencing from PBL. Although the patient's clinical condition improved marginally, he later developed a germinal cell tumour and eventually died at the age of 67 months from sepsis. This case adds to our current knowledge of spontaneous reversion of mutations in ADA deficiency and shows that the effects of the ERT may vary among these patients, suggesting that it could depend on the cell and type in which the somatic mosaicism is established upon reversion.
Assuntos
Adenosina Desaminase/metabolismo , Terapia de Reposição de Enzimas , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/terapia , Neoplasias Primárias Desconhecidas/genética , Neoplasias Primárias Desconhecidas/terapia , Imunodeficiência Combinada Severa/genética , Imunodeficiência Combinada Severa/terapia , Adenosina Desaminase/administração & dosagem , Adenosina Desaminase/genética , Adenosina Desaminase/imunologia , Animais , Linfócitos T CD4-Positivos/efeitos dos fármacos , Linfócitos T CD4-Positivos/imunologia , Linfócitos T CD4-Positivos/metabolismo , Linfócitos T CD4-Positivos/patologia , Linfócitos T CD8-Positivos/efeitos dos fármacos , Linfócitos T CD8-Positivos/imunologia , Linfócitos T CD8-Positivos/metabolismo , Linfócitos T CD8-Positivos/patologia , Bovinos , Contagem de Células , Criança , Pré-Escolar , Análise Mutacional de DNA , Evolução Fatal , Humanos , Imunofenotipagem , Lactente , Células Matadoras Naturais/patologia , Neoplasias Pulmonares/complicações , Neoplasias Pulmonares/fisiopatologia , Neoplasias Pulmonares/secundário , Masculino , Mosaicismo/efeitos dos fármacos , Mutação/genética , Neoplasias Primárias Desconhecidas/complicações , Neoplasias Primárias Desconhecidas/patologia , Neoplasias Primárias Desconhecidas/fisiopatologia , Receptores de Antígenos de Linfócitos T/metabolismo , Imunodeficiência Combinada Severa/complicações , Imunodeficiência Combinada Severa/patologia , Imunodeficiência Combinada Severa/fisiopatologia , Choque SépticoRESUMO
A descriptive and retrospective study was realized during a period of eleven years from January 1983 to December 1993. There were found 101 cases, of which 75.25% were Meckel's diverticulum complicated. The incidence found was of 1.2%. The 89.5% of the complicated cases were less than 10 years old, and the 47.4% were less than 2 years old. The most frequent symptoms were: abdominal pain (68.4%), vomiting (68.4%), fever (47.3%), and abdominal distention (39.4%). The congenital anomalies presented in 17.8%, were: intestinal malrotation, congenital bands, hernia inguinal and omphalocele. The most common complications were: intestinal obstruction (47.4%), diverticulitis (19.7%), lower digestive hemorrhage (15.8%), and intestinal perforation (14.5%) of the cases. The heterotopic tissue was present in 20.7% cases. In our Institute, the age's group less than 2 years old, presented more complicated cases (p < 0.01). The intestinal obstruction was the most common picture (p < 0.001). The lower gastrointestinal hemorrhage was the second complication in patients less than 2 years old (p < 0.05). We found a strong association with other congenital anomalies.