RESUMO
The experiment compared the physiological function (insulin secretory capacity) and membrane integrity of human adult pancreatic islets incubated in culture at 37°C and 24°C. Pancreatic tissue was digested with Collagenase XI, using a non-automated method. Cultures were incubated at 37°C and 24°C. Secretory capacity of the islets is determined by measuring of the stimulation index (SI) on the 1st, 3rd and 7th day of cultivation. Membrane integrity of the islets was determined by dithizone staining. Both groups of examined cultures show a slight increase in SI during the incubation. However islets incubated at 24°C show higher SI values than those incubated at 37°C on the 1st, 3rd and 7th day of incubation. And on the first day of incubation, this difference was statistically significant (p <0.05). Islets incubated at 37°C showed preservation of membrane integrity, the islets are regular spherical shape, while those incubated at 24°C lose such an organization. During the seven-day cultivation, islets incubated at a standard temperature of 37°C show less preserve physiological functions in relation to cultures incubated at 24°C, but islets incubated at 37°C show more regular morphological forms.
Assuntos
Temperatura Baixa , Insulina/metabolismo , Ilhotas Pancreáticas/metabolismo , Técnicas de Cultura de Tecidos/métodos , Adulto , Humanos , Secreção de Insulina , Ilhotas Pancreáticas/anatomia & histologia , Ilhotas Pancreáticas/citologia , Fatores de TempoRESUMO
Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited cancer predisposition syndrome due to germline mutations in the VHL tumor suppressor gene which is associated with virtually complete penetrance. The VHL syndrome has a highly variable phenotypic expressivity including retinal and CNS haemangioblastomas, pheochromocytomas, renal clear cell carcinomas, and multifocal cysts. In order to establish VHL gene testing, we analyzed three families affected by VHL disease, using SSCP mutation screening and DNA sequencing. Among 18 family members with and without clinical manifestations, eight cases with germline VHL mutations were detected. In family A, a c.490G>T/ p.Gly93Cys substitution was found. In family B, with pheochromocytoma only phenotype, we detected a previously not described c.463G>A/p.Val84Met replacement. Within this family, a prenatal diagnosis was also performed. Affected members of the third family with a VHL type 1 disease carried a c.475T>C/p.Trp88Arg exchange. All these mutations were located in exon 1 of the VHL tumor suppressor gene. Alterations in this hydrophobic region of the core beta domain of the VHL protein are known to have a variety of phenotypic consequences. We observed also intrafamiliar variation in time of onset and severity of the disease.
Assuntos
Mutação , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Doença de von Hippel-Lindau/genética , Substituição de Aminoácidos , Família , Feminino , Humanos , Masculino , Linhagem , Mutação Puntual , Polimorfismo de Nucleotídeo Único , IugosláviaRESUMO
The case of corpus callosum lipoma that was accidentally discovered during the routine brain examination by computed tomography had been described. The CT features of corpus callosum lipoma were described as well as differential-diagnostic differences with epidermoid cyst agenesia of corpus callosum and cyst of the pellucid septum (cavum vergae).