RESUMO
Schizophrenia afflicts roughly 1% of all people worldwide. Remarkably, despite differing cultures and environments, the expression of illness is essentially the same. Family, twin, and adoption studies identify schizophrenia as a genetically influenced disease. Linkage studies suggest many positive regions of interest, but as a complex genetic disorder most of the pathogenic loci have not yet been found. Isolated populations are commonly used to study rare Mendelian inherited diseases due to the more homogenous genetic background of the subjects and are thought to be useful for detecting linkage in complex genetic disorders such as schizophrenia. This study aims to define areas of the genome that exhibit co-inheritance with schizophrenia in one large, Mendelian-like family from the central valley of Costa Rica. The whole genome scan analysis of this pedigree, which included 11 cases of schizophrenia and schizoaffective disorder, identified a number of markers on chromosome 5p that appear to co-segregate with the disease with a maximum lod score of 2.70 at marker D5S426. Current studies include investigating additional Costa Rican pedigrees to replicate these findings and identify additional loci linked to the disease.
Assuntos
Cromossomos Humanos Par 5/genética , Ligação Genética/genética , Repetições de Microssatélites/genética , Esquizofrenia/genética , Mapeamento Cromossômico , Costa Rica/epidemiologia , Feminino , Genética Populacional , Haplótipos , Humanos , Escore Lod , Masculino , Linhagem , Esquizofrenia/epidemiologiaRESUMO
Sixty-six families from Costa Rica with multiply ill sets of siblings were examined in detailed clinical evaluations and compared with 59 similarly evaluated families from the USA. Eighty-six unrelated Costa Rican individuals with a schizophrenia spectrum diagnosis and no other ill siblings were an additional comparison group. This study was undertaken to examine whether schizophrenia in Costa Rica has similar clinical and demographic characteristics to that in the USA, whether a homogeneous population such as that in Costa Rica might harbor a specific definable subtype, and whether singletons have similar or differing characteristics from individuals in multiplex families. Overall, schizophrenia in Costa Rica is similar to that in any other geographic location. The same symptoms, sex ratio and age of onset characteristics predominate. However, there was significantly less prevalence of affective symptoms (depression and mania) and drug abuse among the Costa Rican multiplex families by comparison with those from the USA. The families with only one ill member from Costa Rica had significantly more alcohol abuse than the multiply affected families. Within multiplex families (both USA and Costa Rica), age of onset was found to have a familial component. Family sibship size was significantly greater in Costa Rica than the USA for the generation with illness studied. However, these siblings had overall fewer children. In Costa Rica, the male but not the female siblings with schizophrenia had reduced fecundity compared with their well siblings. These families from Costa Rica will be used in further molecular genetic studies to determine whether the illness etiology can be traced to one or more specific genetic linkages.
Assuntos
Esquizofrenia/genética , Análise de Variância , Costa Rica , Família , Feminino , Humanos , Masculino , Núcleo Familiar , Transtornos Psicóticos/genética , Fatores Sexuais , Espanha/etnologia , Estados Unidos/etnologia , População Branca/genéticaRESUMO
The solubility of a related series of parabens was determined in water at four temperatures. The parabens chosen were the methyl through n-butyl p-hydroxybenzoates, and the temperature variations were 5 degrees increments from 25 to 40 degrees. These solutes are useful preservatives, especially combinations of the methyl and propyl ester derivatives. The chemical relationship of these compounds varied by successive linear methylene additions on the ester portion of the molecules. The thermodynamic values obtained for these aqueous systems could be related to these molecular variants since the remainder of the molecule was constant. For the overall thermodynamics, the free energy functions such as the ideal, actual, and excess were found to be smooth, nonlinear functions of the number of carbon atoms in the alkyl portion of the paraben esters. A linear relationship with the number of carbon atoms in the ester portion of these esters was found with the partial excess free energy of the solute.
Assuntos
Parabenos , Solubilidade , Soluções , Termodinâmica , ÁguaRESUMO
The solubilities of a series of chemically related barbiturates, including some medically useful ones as well as phenobarbital, were determined at 25 degrees in the straight-chain alcohols methanol through butanol. The solubility values are given in both milligrams per milliliter and the mole fraction notation. The solubility in methanol was the highest and decreased nonlinearly for the solubility in 1-butanol. In several cases, mole fraction solubility gave shouldering or peaking as a function of the carbon number of the solvent. This series of barbiturates was broken down into two subsets of straight-chain and branched alkyl barbiturates, and solubility ratios in these subsets were considered.
