Severe Darier's disease in a psychiatric patient

Darier’s disease is characterized by dense keratotic lesions in the seborrheic areas of the body such as scalp, forehead, nasolabial folds, trunk and inguinal region. It is a rare genodermatosis, an autosomal dominant inherited disease that may be associated with neuropsichiatric disorders. It is caused by ATPA2 gene mutation, presenting cutaneous and dermatologic expressions. Psychiatric symptoms are depression, suicidal attempts, and bipolar affective disorder. We report a case of Darier’s disease in a 48-year-old female patient presenting severe cutaneous and psychiatric manifestations.

Association of vascular endothelial growth factor gene polymorphism with diabetic retinopathy in different population: a meta-analysis / 中华眼底病杂志

Objective To assess the association of vascular endothelial growth factor (VEGF) gene-460C/T and-634C/G polymorphism with diabetic retinopathy (DR) among patients in Asia and European by meta-analysis.Methods A systematic search of electronic databases (PubMed,Cochrane Library,EMBASE,VIP,Wanfang technological,CNKI,etc.) was carried out until Jun,2014.Case-control studies on the relationship between genetic polymorphism of VEGF-460C/T and VEGF-634C/G with diabetic retinopathy were included in this analysis.The data were quantitatively analyzed by RevMan 5.0 software after assessing the quality of included studies.The pooled odds ratios (OR) and their corresponding 95％ confidence intervals (CI) were used to assess the strength of the association.Results VEGF-460C/T (7 studies:899 cases and 786 controls) and VEGF-634C/G (10 studies:1615 cases and 1861 controls) were inclued in this meta-analysis.Significant association was found for-460C/T polymorphism in Aisa (C versus T:OR=1.52,95％CI was [1.22,1.90],Z=3.72,P=0.0002;CC versus CT+TT:OR=1.61,95％CI was [1.19,2.19],Z=3.05,P=0.002;TT versus CT+CC:OR=0.64,95％CI was [0.41,0.98],Z=2.07,P=0.04),and VEGF-634CC gene type was associated with DR in European (OR=1.56,95％CI [1.08,2.25],Z=2.37,P=0.02).No significant publication bias was found.Conclusions The metaanalysis demonstrated that DR was associated with VEGF-460C/T polymorphism in Asia,and C alleles and CC gene type was the risk polymorphism;VEGF-634C/G polymorphism was not associated with DR,but its CC genotype maybe the risk factor in European.Further case-control studies based on larger sample size are still needed,especially for-634C/G polymorphism.

Relationship between hOGG1 and XPD gene polymorphism and genetic susceptibility of gastric cancer / 中国基层医药

Objective To investigate the relationship between hOGG1 and XPD gene polymorphism and genetic susceptibility of gastric cancer.Methods This study was carried out in Dongying Shengli Petroleum Administration Bureau Hospital.Under the narrow band imaging(NBI) mode,the blood samples of a total of 98 gastric cancers and 80 controls without cancers were collected.Genetic polymorphisms of DNA repair genes were identified by polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP),then its relationship with cancers was analyzed.Results Carrying 326Cys allele with the wine increased the risk of gastric cancer; Lys 751Gln genotype increased the susceptibility of the gastric cancers (OR =1.486,0.73 ～ 3.025).Conclusion Lys751 Gln genotype increases the risk of gastric cancer.

Análise genética de fenótipos cardiometabólicos complexos em população urbana e rural de Minas Gerais / The cardiometabolic phenotypes with different strategies of genetic analyses using the estimate of heritability in an urban area, in Minas Gerais

Fenótipos cardiometabólicos como doenças cardiovasculares, obesidade, resistência à insulina, diabetes, alteração nos níveis lipídicos são responsáveis por elevada mortalidade e outras complicações. A predisposição genética influencia diversos aspectos do metabolismo que elevam o risco, e, consequentemente, contribui para o aumento da prevalência desses fenótipos, sendo uma das áreas promissoras na descoberta da etiogênese das doenças crônicas. Portanto, o objetivo do estudo foi investigar potenciais associações genéticas - utilizando diferentes estratégias de análise - com fenótipos cardiometabólicos por meio da estimativa da herdabilidade em população rural e da estimativa de ocorrência do polimorfismo do receptor de leptina (LEPR) Gln223Arg em população urbana, ambas em Minas Gerais. Para tal, foram utilizados dois estudos transversais. O primeiro foi realizado nas áreas rurais de Virgem das Graças, Caju e São Pedro do Jequitinhonha, no qual 931 indivíduos pertencentes a 89 pedigrees foram fenotipados. Nesse estudo foi utilizada a estratégia de estimativa de herdabilidade (h2), correlações genéticas e ambientais e sua associação com níveis lipídicos, índice de massa corporal, circunferência abdominal e pressão arterial. No segundo estudo foi utilizada a avaliação da frequência do polimorfismo do LEPR Gln223Arg e potenciais associações com sobrepeso, obesidade, obesidade abdominal e gordura corporal. As estimativas de h2 para os fenótipos avaliados variaram de 28 a 60%, e correlações genéticas (ρg) significativas foram encontradas para a maioria dos pares de fenótipos avaliados (considerando os modelos ajustados): triglicérides - VLDL (ρg=0,99), colesterol total - LDL (ρg=0,90), pressão arterial diastólica - triglicérides (ρg=0,63), pressão arterial diastólica - VLDL (ρg=0,59), além do triglicérides-colesterol total (ρg=0,58). De forma geral, as correlações genéticas foram superiores às correlações ambientais. Foram encontrados efeito household...

Cardiometabolic phenotypes such as cardiovascular diseases, obesity, insulin resistance, diabetes, high level of lipids were responsible for high mortality and its complications. Genetics could influence metabolism in many aspects and it could contribute to the high prevalence of these phenotypes. Therefore, the objective of this study was to research the cardiometabolic phenotypes with different strategies of genetic analyses using the estimate of heritability in a rural area, in Vale do Jequitinhonha and to associate the leptin receptor polymorphism (LEPR) Gln223Arg in an urban area, in Minas Gerais. Both studies were cross-sectional. The first study was conducted in the rural area of Virgem das Graças, Caju and São Pedro do Jequitinhonha, in which 931 individuals of 89 pedigrees were phenotyped. In the first study, the strategy of estimating heritability (h2), pleiotropy and its association with lipid levels, body mass index, waist circumference and blood pressure was evaluated. In the second study, the frequency of the LEPR Gln223Arg and the potentials associations with overweight, obesity, abdominal obesity and higher body fat was evaluated. The h2 estimates for the phenotypes evaluated ranged 28 to 60% and significant genetic correlations (ρg) were found for most pairs of phenotypes evaluated mainly among triglycerides - VLDL (ρg = 0.99), total cholesterol - LDL (ρg = 0.90), diastolic blood pressure - triglycerides (ρg = 0.63) and diastolic blood pressure - VLDL (ρg = 0.59), total cholesterol - triglycerides (ρg = 0.58). In general, genetic correlations were higher than the environmental correlations. Household effects have been found for HDL (c2 = 0.21, P < 0.001) and VLDL (c2 = 0.10, P = 0.010) and hypertension (c2 = 0.14, P = 0.015). Finally, to complete pleiotropy found between VLDL - triglycerides, it means that these phenotypes are controlled by a single gene or by a set of genes. Moreover, in the urban area, high levels of...

Estatinas nas síndromes coronarianas agudas / Statins in acute coronary syndromes / Estatinas en los síndromes coronarios agudos

As estatinas são o principal recurso disponível para redução do LDL-colesterol. Seu uso contínuo reduz a morbidade e a mortalidade cardiovascular decorrente da doença aterosclerótica. A administração das estatinas demonstrou ser efetiva em estudos clínicos de prevenção primária e secundária em pacientes de baixo e alto risco. O mecanismo presumido de benefício da terapia hipolipemiante na prevenção das complicações da doença aterosclerótica age na redução da deposição de lipoproteínas aterogênicas em áreas vulneráveis da vasculatura. Estudos experimentais com estatinas demonstraram grande variedade de outros efeitos que poderiam estender o benefício clínico além da modificação do perfil lipídico por si só. A terapia com estatinas altera beneficamente componentes importantes do processo aterotrombótico: inflamação, oxidação, coagulação, parâmetros fibrinolíticos, função endotelial, vasorreatividade e função plaquetária. A demonstração dos efeitos não dependentes da redução do colesterol ou pleiotrópicos das estatinas fornece a base teórica para seu possível papel como terapia adjunta das síndromes coronarianas agudas. Análises retrospectivas de uma variedade de estudos indicam potencial benefício das estatinas durante os eventos coronarianos agudos. Estudos clínicos recentes têm abordado essa importante questão em ensaios prospectivos controlados, demonstrando fortes evidências a favor da administração das estatinas como terapia adjunta nas síndromes coronarianas agudas.

Statins are the main resource available to reduce LDL-cholesterol levels. Their continuous use decreases cardiovascular morbidity and mortality due to atherosclerosis. The administration of these medications demonstrated to be effective in primary and secondary prevention clinical trials in low and high risk patients. Specialists believe that a possible benefit of hypolipidemic therapy in preventing complications of atherosclerotic diseases is in the reduction of deposition of atherogenic lipoproteins in vulnerable areas of the vasculature. Experimental studies with statins have shown an enormous variety of other effects that could extend the clinical benefit beyond the lipid profile modification itself. Statinbased therapies benefit other important components of the atherothrombotic process: inflammation, oxidation, coagulation, fibrinolysis, endothelial function, vasoreactivity and platelet function. The demonstration of the effects that do not depend on cholesterol lowering or the pleiotropic effects of statins provides the theoretical basis for their potential role as adjunctive therapy in acute coronary syndromes. Retrospective analyses of a variety of studies indicate the potential benefit of statins during acute coronary events. Recent clinical studies have addressed this important issue in prospective controlled trials showing strong evidence for the administration of statins as adjunctive therapy in acute coronary syndromes.

Las estatinas son el principal recurso disponible para la reducción del LDL-colesterol. Su uso continuo reduce la morbilidad y la mortalidad cardiovascular proveniente de la enfermedad arterioesclerótica. La administración de las estatinas demostró ser efectiva en los estudios clínicos de prevención primaria y secundaria en pacientes de bajo y alto riesgo. El mecanismo entendido como beneficioso de la terapia hipolipemiante en la prevención de las complicaciones de la enfermedad arterosclerótica, actúa en la reducción de la deposición de lipoproteínas aterogénicas en áreas vulnerables de la vasculatura. Estudios experimentales con estatinas han venido demostrando una gran variedad de otros efectos que podrían extender el beneficio clínico más allá de la modificación del perfil lipídico por sí mismo. La terapia con estatinas altera benéficamente los componentes importantes del proceso aterotrombótico: inflamación, oxidación, coagulación, parámetros fibrinolíticos, función endotelial, vasorreactividad y una función plaquetaria. La demostración de los efectos no dependientes de la reducción del colesterol o pleiotrópicos de las estatinas, suministra una base teórica para su posible papel como terapia coadyuvante de los síndromes coronarios agudos. Los análisis retrospectivos de una variedad de estudios indican un potencial beneficioso de las estatinas durante los eventos coronarios agudos. Recientes estudios clínicos han abordado esa importante problemática en ensayos prospectivos controlados, demostrando fuertes evidencias en favor de la administración de las estatinas como una terapia coadyuvante en los síndromes coronarios agudos.