RESUMO
Donohue syndrome or leprechaunism is a severe congenital insulin-resistance syndrome. It is characterized by intra-uterine and neonatal growth retardation, typical dysmorphic features, and metabolic abnormalities with hyperinsulinism and hyperandrogenism. Problems in energy metabolism and loss of glucose homeostasis are responsible for early death in the first year of life. We describe a case with a novel homozygote mutation in the insulin receptor gene. This patient had hypertrophic cardiomyopathy with heart failure and bronchial compression leading to clinical deterioration over 5 days and subsequently death. A treatment with recombinant IGF-1 was tried without efficacy.
Assuntos
Antígenos CD/genética , Cardiomiopatia Hipertrófica/genética , Análise Mutacional de DNA , Síndrome de Donohue/diagnóstico , Síndrome de Donohue/genética , Insuficiência Cardíaca/genética , Homozigoto , Receptor de Insulina/genética , Glicemia/metabolismo , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/patologia , Cromossomos Humanos Par 19/genética , Consanguinidade , Síndrome de Donohue/patologia , Ecocardiografia , Éxons/genética , Evolução Fatal , Feminino , Seguimentos , Triagem de Portadores Genéticos , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/patologia , Humanos , Recém-Nascido , Íntrons/genética , Choque Cardiogênico/patologiaRESUMO
The masked palm civet is distributed through south-east Asia, China and the Himalayas. Because of its potential role in the severe acute respiratory syndrome (SARS) epidemic, it has become important to gather information on this species, and notably to provide a tool to determine the origin of farm and market animals. For this purpose, we studied the genetic variability and the phylogeographic pattern of the masked palm civet Paguma larvata. First, two portions of mitochondrial genes, cytochrome b and the control region, were sequenced for a total of 76 individuals sampled from China, the Indochinese region and the Sundaic region. Results indicated a low genetic variability and suggested a lack of a phylogeographic structure in this species, which do not allow inferring the geographic origin of samples of unknown origin, although it is possible to distinguish individuals from China and the Sundaic region. This low variation is in contrast to the well-marked morphological differentiation between the populations in the Sundaic and Chinese-Indochinese regions. We also used five microsatellite loci to genotype 149 samples from two wild and four farmed populations in China, where the masked palm civet is farmed and where the SARS coronavirus was isolated. These analyses also showed a reduced variability in Chinese civets and showed that farmed populations did not exhibit a lower genetic diversity than wild populations, suggesting frequent introductions of wild individuals into farms.
RESUMO
High affinity monoclonal antibodies directed against bis-indole alkaloids from Catharanthus roseus were produced. Once characterized, they were used to develop sensitive enzyme-linked-immuno-sorbent-assays, enabling us to determine minute quantities of alkaloids related to vinblastine in plant material.
