A dopamine receptor D2 genetic polymorphism associated with transition to mental disorders in a cohort of individuals with at-risk mental state for psychosis

Objectives: To test the association of 45 single nucleotide polymorphisms (SNPs) with transition to psychiatric disorders in a cohort of individuals at ultrahigh risk (UHR) mental state for psychosis. Methods: Through general population screening, 88 non-help-seeking UHR subjects and 130 healthy control individuals were genotyped for 45 SNPs related to psychosis. They were followed for a mean of 2.5 years, and conversion to psychotic and to general psychiatric disorders was assessed. Genotype frequencies between controls, converters, and non-converters were analyzed. Results: There were no differences in sociodemographics between controls and UHR. Also, UHR converters and non-converters had no differences in their baseline symptoms scores. The dopamine receptor D2 gene (DRD2) SNP rs6277 was significantly more common among UHR who transitioned to psychosis (p < 0.001) and to UHR who transitioned to any psychiatric disorders (p = 0.001) when compared to UHR who did not transition. The rs6277 T allele was related to psychiatric morbidity in a dose-response fashion, being significantly more frequent in UHR converters than UHR non-converters and control subjects (p = 0.003). Conclusion: Our findings suggest that rs6277 could potentially constitute a genetic marker of transition to psychiatric disorders in subjects with at-risk mental states, warranting further investigation in larger samples.

Neoplasia maligna primária de fígado / Primary malignant neoplasm of the liver

Foram analisados no presente trabalho 21 pacientes com neoplasia maligna primária de fígado, 15 homens e seis mulheres, com idade média de 54,5 anos. Desses pacientes, 17 foram à laparotomia, quando duas ressecçöes puderam ser realizadas, e 14 fizeram apenas biópsias. Em quatro o diagnóstico foi feito por biópsia através de punçäo transparieto-hepática. O tempo médio de história foi de três meses e, por ocasiäo do diagnóstico, 95% dos pacientes tinham câncer avançado (estádios II e III). O tempo médio de sobrevida foi de seis meses, contado a partir do início dos sintomas, e de 2,5 meses a partir do diagnóstico. Nos oito pacientes que receberam quimioterapia, a sobrevida média foi de 3,5 meses (desde o diagnóstico) e, nos que näo receberam, de 27 dias. Os autores concluem que o prognóstico do câncer de fígado é muito pobre, a ressecabilidade muito baixa e, por ocasiäo do diagnóstico, a grande maioria dos doentes já se encontra em fase avançada da doença, sendo necessários esforços no sentido de se proceder ao diagnóstico mais precoce, com seguimento de populaçöes de risco