RESUMEN
Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4) A467T/G848S. Homozygosity for the A467T allele in one patient was associated with a later age at onset. Mitochondrial respiratory chain studies in skeletal muscle were normal in each case. Nine combinations of mutant POLG alleles that cause Alpers syndrome are summarized.
Asunto(s)
ADN Polimerasa Dirigida por ADN/genética , Esclerosis Cerebral Difusa de Schilder/enzimología , Esclerosis Cerebral Difusa de Schilder/genética , Predisposición Genética a la Enfermedad/genética , Mutación/genética , Edad de Inicio , Niño , Análisis Mutacional de ADN , ADN Polimerasa gamma , Discapacidades del Desarrollo/enzimología , Discapacidades del Desarrollo/genética , Esclerosis Cerebral Difusa de Schilder/fisiopatología , Transporte de Electrón/genética , Femenino , Frecuencia de los Genes , Pruebas Genéticas , Variación Genética/genética , Homocigoto , Humanos , Lactante , Hepatopatías/enzimología , Hepatopatías/genética , Masculino , Mitocondrias/enzimología , Mitocondrias/genética , Músculo Esquelético/enzimología , Músculo Esquelético/fisiopatología , Estado Epiléptico/enzimología , Estado Epiléptico/genéticaRESUMEN
BACKGROUND: Volatile crude oil derivates (hydrocarbons) are becoming more and more widely used in homes and during leisure activities. This leads to a high rate of intoxications with these products in children (5% of all pediatric intoxications, 25% of all lethal intoxications). Clinical courses, pathophysiology, and therapy of these intoxications are referred and studied. METHODS: Based on a literature review and 3 cases reports with different clinical courses, intoxications with volatile hydrocarbons are analyzed. RESULTS: The inhalation of volatile hydrocarbons causes an ARDS. This explains the high mortality. Early oxygen-treatment with PEEP-ventilation, however, facilitates a favourable outcome without residual defects as we demonstrate in one case. Another patient needs prolonged ventilatory support after a delayed start of therapy. A third patient cannot be saved even with ECMO. CONCLUSIONS: Initial pulmonary symptoms after hydrocarbon intoxication, such as coughing and cyanosis, are signs for a severe course. Immediate hospitalization with repetitive chest x-rays and adequate instant therapy are the only option to reduce the high mortality of this intoxication.
Asunto(s)
Queroseno/envenenamiento , Insuficiencia Respiratoria/inducido químicamente , Niño , Preescolar , Cuidados Críticos , Humanos , Hipoxia/inducido químicamente , Masculino , Oxígeno/metabolismo , Pronóstico , Respiración Artificial , Insuficiencia Respiratoria/terapiaRESUMEN
In a two years retrospective study we analyzed neonates from a US and a German neonatal center with pulmonary hypertension (persistent fetal circulation--PFC). The US patients were treated with Extracorporeal Membrane Oxygenation (ECMO) the german patients with conventional methods as hyperventilation, catecholamines, and vasodilators. Both groups fulfilled the classical ECMO entrance criteria: an alveolar-arterial oxygen difference greater than 610 mmHg and an oxygenation index (i.e. mean airway pressure x FiO2 x 100/paO2 of greater than 40 mmHg. We compared anamnestic and respiratory parameters with the t-test for independent groups or the chi-square test accordingly. With one patient in each group the mortality was not significantly different and the rate of meconium aspirations was the same. The APGAR score at 5 min was significantly lower in the US group, prenatal care was undertaken in significantly less US than german patients. Time intervals between delivery and important therapeutic interventions as intubation, hyperventilation, first catecholamines were not significantly different between both groups. Also worst paO2, pH, and paCO2 were not significantly different. Mechanical ventilation was more aggressive in the US group, i.e. higher intermittent-mandatory-ventilation-rate and peak inspiratory pressure. On the one hand our studies demonstrate that even patients fulfilling ECMO criteria still have a good chance with conventional treatment. On the other hand differences in APGAR scores and prenatal care might indicate that hypoxic-ischemic influences alter the US-group morbidity.
Asunto(s)
Oxigenación por Membrana Extracorpórea , Hipertensión Pulmonar/terapia , Síndrome de Circulación Fetal Persistente/terapia , Puntaje de Apgar , Catecolaminas/uso terapéutico , Humanos , Hipertensión Pulmonar/etiología , Recién Nacido , Síndrome de Circulación Fetal Persistente/complicaciones , Respiración con Presión Positiva , Atención Prenatal , Estudios Retrospectivos , Vasodilatadores/uso terapéuticoRESUMEN
A randomised double blind placebo controlled trial of treatment with an aerosolised antiviral agent, ribavirin, was conducted in 26 infants with clinically diagnosed bronchiolitis. Nebulised ribavirin (14 infants) or normal saline aerosol (12 infants) was given for 18 hours a day for at least three days. Respiratory syncytial virus was identified in nasal secretions from 20 cases (10 from both groups). Trends in seven out of eight clinical variables favoured active treatment. Ribavirin aerosol was associated with significantly faster improvement in cough and crepitations and more rapid rate of fall in respiratory and heart rates. In the 20 infants from whose nasal secretions respiratory syncytial virus was identified most variables favoured treatment with ribavirin, with significant reduction in chest recession. No difference was found in the rate of clearance of respiratory syncytial virus. The treatment was well tolerated as judged clinically and from the results of haematological and biochemical studies. The study suggests nebulised ribavirin may have a place in the treatment of some cases of bronchiolitis.