RESUMEN
Respiratory syncytial virus bronchiolitis is the most frequent cause of infant hospitalization. RSV bronchiolitis is often followed by recurrent episodes of wheeze. Pathogenesis of RSV bronchiolitis as well as post-bronchiolitis wheeze are incompletely understood. The aim of this review is to provide a brief overview of our current understanding of the complex pathogenesis of RSV bronchiolitis and post-bronchiolitis wheeze. Two non-exclusive hypotheses exist, which are paraphrased for this review as "the chicken and the egg". First, we reviewed the pre-existent genetic, pulmonary and immunological mechanisms of RSV bronchiolitis and post-bronchiolitis wheeze. Second, RSV as the causative virus of long-term airway morbidity is reviewed. Clearly, RSV infection is capable of causing direct damage to the airways and/or inducing long-term inappropriate immune responses to respiratory viruses or aero-allergens. It is concluded that intervention trials aimed at preventing RSV infections are required to establish the relative contribution of both RSV-induced and pre-existent mechanisms to the development of long-term airway disease following RSV bronchiolitis.
Asunto(s)
Bronquiolitis/complicaciones , Bronquiolitis/etiología , Ruidos Respiratorios/etiología , Infecciones por Virus Sincitial Respiratorio/complicaciones , Infecciones por Virus Sincitial Respiratorio/etiología , Animales , Bronquiolitis/epidemiología , Pollos , Susceptibilidad a Enfermedades/complicaciones , Susceptibilidad a Enfermedades/congénito , Susceptibilidad a Enfermedades/epidemiología , Susceptibilidad a Enfermedades/etiología , Humanos , Recién Nacido , Enfermedades del Recién Nacido/epidemiología , Enfermedades del Recién Nacido/etiología , Metáfora , Óvulo , Recurrencia , Ruidos Respiratorios/fisiología , Infecciones por Virus Sincitial Respiratorio/epidemiología , Factores de RiesgoRESUMEN
Observational studies in humans and experimental studies in animals have clearly shown that renal failure may start early in life. 'Fetal programming' is regulated by adaptations occurring in uterus including maternal nutrition, placental blood supply, and epigenetic changes. Low birth weight predisposes to hypertension and renal insufficiency. Congenital abnormalities of the kidney and urinary tract, adverse postnatal events, wrong nutritional habits may produce renal damage that will become clinically relevant in adulthood. Prevention should start early in children at risk of renal disease.
Asunto(s)
Enfermedades Renales/etiología , Adulto , Edad de Inicio , Susceptibilidad a Enfermedades/congénito , Susceptibilidad a Enfermedades/embriología , Susceptibilidad a Enfermedades/etiología , Femenino , Desarrollo Fetal/genética , Desarrollo Fetal/fisiología , Predisposición Genética a la Enfermedad/etiología , Humanos , Recién Nacido , Enfermedades Renales/embriología , Enfermedades Renales/epidemiología , Enfermedades Renales/prevención & control , Embarazo , Efectos Tardíos de la Exposición Prenatal/prevención & control , Anomalías Urogenitales/complicaciones , Anomalías Urogenitales/etiología , Anomalías Urogenitales/genéticaRESUMEN
BACKGROUND: Previous family studies provided evidence that blepharospasm (BSP) can aggregate in families but did not give accurate and reliable information on the characteristics and degree of familial clustering. AIM: To evaluate the proportion of familial and non-familial BSP cases, the clinical expression of dystonia within families, the inheritance pattern, and the extent of penetrance. METHODS: The study was based on the examination of the first degree relatives of 56 probands with primary BSP. RESULTS: The 56 families produced a potential population of 436 first degree relatives of whom 296 were alive and 233 were examined. The proportion of index patients with at least one first degree relative affected by BSP, or adult onset dystonia other than BSP, was 27%. There was a remarkable degree of phenotypic variability of dystonia within families. Similar segregation ratios were calculated for probands' siblings and children. Under the assumption of autosomal dominant transmission of adult onset dystonia, penetrance was about 20%. CONCLUSIONS: The findings of this family study are relevant for accurately counselling the families of patients with BSP and may help identify the most appropriate study design to explore genetic susceptibility in BSP.
Asunto(s)
Blefaroespasmo/genética , Susceptibilidad a Enfermedades/congénito , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Aberraciones Cromosómicas , Análisis por Conglomerados , Distonía/genética , Familia , Femenino , Frecuencia de los Genes/genética , Genes Dominantes , Pruebas Genéticas , Genotipo , Humanos , Masculino , Persona de Mediana Edad , FenotipoRESUMEN
Previous research has suggested that genetic loading for schizophrenia is related to a dysfunctional magnocellular (M) subcortical visual pathway-responsible for processing movement and location. However, data substantiating this mechanism remains inconclusive. The present study used a novel technique to selectively suppress the M system in order to investigate the impact of genetic loading for schizophrenia on its functioning. A visual backward masking task was administered to 28 healthy first-degree relatives of persons with schizophrenia and 31 healthy controls. The task was administered on both a red and neutral background, as diffuse red light has been shown to selectively suppress the M system in basic vision research. On a location condition of backward masking, controls demonstrated reduced accuracy on the red compared to the neutral background. In contrast, relatives did not display differential performance between the two backgrounds. The differential effect on the two groups appears to be attributable to a difference in activity of the M pathway. Performance in the relatives was consistent with the notion of a hyperactive M pathway.
Asunto(s)
Percepción de Color/genética , Percepción de Color/fisiología , Susceptibilidad a Enfermedades/fisiopatología , Carga Genética , Orientación/fisiología , Reconocimiento Visual de Modelos/fisiología , Esquizofrenia/genética , Esquizofrenia/fisiopatología , Psicología del Esquizofrénico , Vías Visuales/fisiología , Vías Visuales/fisiopatología , Adulto , Anciano , Atención/fisiología , Susceptibilidad a Enfermedades/congénito , Susceptibilidad a Enfermedades/psicología , Femenino , Humanos , Masculino , Memoria a Corto Plazo/fisiología , Persona de Mediana Edad , Percepción de Movimiento/fisiología , Enmascaramiento Perceptual/fisiología , Desempeño Psicomotor/fisiología , Medición de Riesgo , Trastorno de la Personalidad Esquizotípica/genética , Trastorno de la Personalidad Esquizotípica/fisiopatología , Trastorno de la Personalidad Esquizotípica/psicologíaRESUMEN
A patient with antithrombin III deficiency developed deep vein thrombosis during her first pregnancy. Her pregnancy and delivery were successfully treated with simultaneous administration of antithrombin III concentrates and low molecular weight heparin. She delivered a 2,412g girl at 39 weeks' gestation. The baby was administered with antithrombin III concentrates as prophylaxis for neonatal arterial and venous thrombosis because the antithrombin III level was extremely low to be 2%. Her second pregnancy was uneventful at 38 weeks' gestation, and she was treated with administration of antithrombin III concentrates prophylactically. She delivered a 3,256g boy at 42 weeks' gestation without any complications. The antithrombin III level of the second baby was normal. These results showed that in a neonate with congenital antithrombin III deficiency the antithrombin III concentrates would be administered to prevent neonatal arterial and venous thrombosis.
Asunto(s)
Deficiencia de Antitrombina III , Antitrombina III/uso terapéutico , Adulto , Anticoagulantes/uso terapéutico , Antitrombina III/genética , Terapia Combinada , Susceptibilidad a Enfermedades/congénito , Diuréticos/uso terapéutico , Femenino , Genes Dominantes , Humanos , Recién Nacido , Masculino , Embarazo , Complicaciones Cardiovasculares del Embarazo/etiología , Complicaciones Cardiovasculares del Embarazo/terapia , Tromboflebitis/etiología , Tromboflebitis/prevención & control , Tromboflebitis/terapiaRESUMEN
In descendants of white rats with chronic alcoholic intoxication, the contents of DA in the brain and blood plasma, characteristics of GABA and opiate brain receptors, the contents of cAMP and other substances were studied as well as the c-fos gene expression. The data obtained suggest a considerable role of the changes in the DA system functions in the genesis of pathology in these descendants.
Asunto(s)
Alcoholismo/fisiopatología , Alcoholismo/genética , Animales , Encéfalo/efectos de los fármacos , Encéfalo/metabolismo , Química Encefálica/efectos de los fármacos , Susceptibilidad a Enfermedades/congénito , Susceptibilidad a Enfermedades/fisiopatología , Etanol/farmacología , Femenino , Regulación de la Expresión Génica/efectos de los fármacos , Regulación de la Expresión Génica/fisiología , Genes fos/efectos de los fármacos , Genes fos/fisiología , Predisposición Genética a la Enfermedad , Masculino , RatasRESUMEN
During a 3-year period we studied 393 adult patients (382 of whom were unrelated) with a history of acute venous thromboembolism. A congenital deficiency state known to predispose to thrombosis was found in 27.2%. Of these, most were due to deficiencies of protein C (9.2%), protein S (7.6%), antithrombin III (5%) or to increased plasma PAI-1 concentration (3.1%) which, in the absence of any known factor that predisposes towards thrombosis, results in a diminished fibrinolytic activity. There was a characteristic pattern between the age of onset (mean 34 years) of thrombosis and individual protein deficiency. Thrombosis appeared spontaneously in 73% of cases with recurrence in 80%. In contrast, in the remaining unrelated patients, 138 (35.1%) in whom venous thromboembolism was secondary and occurred at a mean age of 43 years, and in the other 140 (35.6%) who suffered thromboembolism spontaneously at a later age (mean age 55), there was no permanent protein deficiency state or alteration in fibrinolytic activity and thrombosis recurrence was lower (53.6% and 20.7% respectively). Of the 393 patients, deep vein thrombosis was the most common manifestation; however, in congenital thrombophilia, thrombosis of visceral vessels and Raynaud's syndrome (6%) were also detected.