Alzheimer's disease (AD) is a complex neurodegenerative disorder and the primary cause of dementia in the elderly and causes a decrease in cognition, functionality, and behaviour. Genetic risk factors play an important role in the pathogenesis of AD. In this case-control study, we aimed to investigate whether single nucleotide polymorphisms in MTHFR (rs1801133), PICALM (3851719), CLU (rs11136000), and CR1 (rs6701713) are associated with AD. Genotype frequencies were evaluated in 82 late-onset AD patients and 161 elderly healthy controls matched by age and gender. We detected a significant association of the MTHFR rs1801133 and PICALM rs3851179 polymorphisms with AD. The results of this study support the hypothesis that several genes are involved in the aetiology of AD.

RESUMO:A infusão das folhas de Plantago major (Plantaginaceae), conhecida como tansagem ou transagem, é usada como antibiótica, antiinflamatória, anti-séptica, anti-térmica, na prevenção de tumores e no tratamento de neoplasias. Este efeito é atribuído aos flavonóides encontrados em diversas espécies do gênero Plantago. O presente estudo objetivou avaliar os potenciais efeitos, tóxico e mutagênico, do extrato bruto hidroalcoólico de folhas de P. major, por meio dos testes in vivo de Allium cepa e do micronúcleo. Para o ensaio biológico vegetal, meristemas de raízes de A. cepa foram usados para o preparo de lâminas através da técnica de esmagamento. No ensaio do micronúcleo foram analisadas lâminas de células de medula óssea de roedores. As análises estatísticas seguiram o teste de Tukey (p<0,05) para o ensaio de Allium cepa e teste de Scott-Knott (p<0,05) para o ensaio do micronúcleo. Os resultados do teste de Allium cepa demonstram que houve redução significativa no índice de germinação em todas as concentrações testadas. P. major provoca alteração no ciclo celular pela inibição da divisão das células, como indica o índice mitótico. Os índices de efeitos clastogênico e aneugênico demonstram que, além de não determinar aumento de aberrações cromossômicas, o que indica ausência de ação genotóxica, P. major possui atividade anti-genotóxica. Os resultados do teste do micronúcleo reforçam a sugestão de que o extrato de P.major não possui atividade mutagênica, entretanto provoca alterações na divisão celular.Palavras-chave: mutagênese, tansagem, plantas medicinais, Allium cepa, micronúcleo ABSTRACT: Evaluation of the cytotoxic and genotoxic potential of Plantago major L. in test systems in vivo. The infusion of leaves of Plantago major (Plantaginaceae), known as "tansagem" or "transagem", is used as antibiotic, anti-inflammatory, anti-septic, anti-thermal in the prevention of tumors and in the treatment of neoplasms. This effect is attributed to the flavonoids found in diverse species of the genus Plantago. The present study aimed to evaluate the potential toxic and mutagenic effects of the crude hydroalcoholic extract from P. major leaves by means of in vivo tests with Allium cepa and micronucleus. For the plant biological assay, meristems of A. cepa roots were used for the preparation of slides by adopting the crushing technique. In the micronucleus assay, slides of bone marrow cells from rodents were analyzed. Statistical analyses were carried out according to Tukey's test (ρ<0.05) for the Allium cepa assay and Scott-Knott test (ρ<0.05) for the micronucleus assay. Results of the A. cepa test demonstrate that there was a significant reduction in the germination index at all tested concentrations. P. major causes alteration in the cell cycle by inhibiting the division of cells, as indicated by the mitotic index. The indexes of clastogenic and aneugenic effects show that, in addition to not determining the increase in chromosomal aberrations, which indicates the absence of genotoxic action, P. major has anti-genotoxi...

The cardiovascular effects induced by the aqueous fraction of the ethanol extract of the stem (AFS) of Solanum stipulaceum Roem. & Schult were studied in rats. In non-anesthetized rats, AFS injections produced significant and dosedependent hypotension associated with increase in heart rate. In isolated rat superior mesenteric rings, AFS was able to antagonize the contractions induced by phenylephrine and KCl. The vasorelaxant activity of AFS was not inhibited by either removal of vascular endothelium, L-NAME, atropine or indomethacine. In isolated rat atrial preparations, AFS produced concentration-related negative inotropic and chronotropic responses. These results suggest that the hypotensive effect of AFS is due to a peripheral vasodilation, which can not be attributed to the participation of vascular endothelium. Finally, AFS acts directly on the heart decreasing contractility and heart rate.

Cystic Fibrosis (CF) is an autosomal recessive disease, caused by mutations in the Cystic Fibrosis Transmembrane Regulator gene (CFTR). The most frequent mutation in CF is ΔF508. The disease is clinically characterized by elevated concentrations of sweat chlorides and abnormally thick mucus. It affects organs such as lung, pancreas, gastrointestinal and reproductive tract. Women with CF commonly present delayed puberty and amenorrhea due to malnutrition. Our objective was to screen the presence of ΔF508 mutation in 24 women with altered fertility. Nine of these women presented reduced fertility without a known cause, four showed polycystic ovaries and two had early menopause. One woman with early menopause was a carrier of the ΔF508 mutation. Our study demonstrates that it is possible that the frequency of CF mutations among patients with altered fertility may be higher than expected. Previous data showed that fibrocystic women can show reduced fertility, maternal mortality associated with pregnancy and increased incidence of spontaneous abortion. We therefore recommend that women with reduced fertility undertake genetic tests for a better evaluation of pregnancy risks and clinical monitoring.

RESUMO:Este trabalho teve como objetivo investigar a composição química, estabelecer a dose letal média (DL 50 ) e av aliar os potenciais efeitos mutagênicos do extrato hidroalcoólico de folhas e inflorescências de Erythrina mulungu Mart. ex Benth por meio do teste de micronúcleo em medula óssea de camundongos. Os ensaios fitoquímicos foram realizados através de reações preliminares com mudança de coloração e/ou formação de precipitado; a DL 50 , por meio da administração intraperitoneal de três concentrações dos extratos, avaliando-se o número de óbitos após 48 horas e o teste de micronúcleo foi feito por meio do método do esfregaço, após exposição dos animais a cinco dias de tratamento. Os resultados fitoquímicos demonstraram presença de açúcares redutores, fenóis e taninos, proteínas e aminoácidos, flavonóides, alcalóides, depsídeos e depsidonas e derivados de cumarina em ambos os órgãos; saponinas espumídicas e esteróides e triterpenóides nas folhas e glicosídeos cardiotônicos e antraquinônicos e alcalóides nas inflorescências. Para a DL 50 a folha demonstrou-se atóxica e a inflorescência moderadamente tóxica. Para o teste de micronúcleo, os resultados indicaram ausência de citotoxicidade e genotoxicidade dosedependente para as folhas e independente da dose para as inflorescências. Assim, esses resultados sugerem que a planta, nas condições analisadas, possui potencial para induzir danos ao DNA. Palavras-chave:Erythrina mulungu, composição química, DL50, micronúcleo ABSTRACT: Phytochemical and mutagenic analysis of leaves and inflorescences of Erythrina mulungu (Mart. Ex Benth) through micronucleus test in rodents. This study aimed to investigate the chemical composition, to establish the mean lethal dose (LD 50 ) and to assess the potential mutagenic effects of hydroalcoholic extract of leaves and inflorescences of Erythrina mulungu Mart. ex Benth by using micronucleus test in bone marrow of mice. Phytochemical assays were carried out through preliminary reactions with color change and/or precipitate formation; the LD 50 was obtained by intraperitoneal administration of three concentrations of the extracts, assessing the number of deaths after 48 hours, and the micronucleus test was done by the smear method, after exposure of animals to five days of treatment. Phytochemical results showed the presence of reducing sugars, phenols and tannins, proteins and amino acids, flavonoids, alkaloids, depsides, depsidones and coumarin derivatives in both organs; foaming and steroidal saponins and triterpenes in the leaves and cardiotonic and anthraquinonic glycosides and alkaloids in the inflorescences. Considering the LD 50 , the leaf was atoxic and the inflorescence was moderately toxic. As regards the micronucleus test, results indicated absence of cytotoxicity while genotoxicity was dose-dependent for leaves and dose-independent for inflorescences. Thus, these results suggest that the plant, under the tested conditions, has the potential to induce damages to the DNA.