Mutações no gene HFE (C282Y, H63D, S65C) em uma população brasileira

Hereditary hemochromatosis (HH) is the most common genetic disorder occurring in individuals of northern European descent. The clinical characteristic of this disease is the gradual accumulation of iron in internal organs, which ultimately leads to organ failure and death. The defective gene in the majority of cases, HFE, was identified in 1996. Three allelic variants of the HFE gene have been correlated with HH: C282Y is significantly associated with HH; H63D and S65C have unclear relationships. In this report, these mutations were analyzed in 8 patients with HH and in 148 healthy individuals (blood donors). To detect the mutations, exons 2 and 4 of the HFE gene were amplified by PCR followed by restriction endonucleases cleavage. In patients with HH, three individuals were homozygous for the C282Y mutation, one showed compound heterozygous (C282Y/H63D), one was heterozygous for the C282Y and 3 presented with no mutations. In healthy individuals, the allele frequency observed was 0.014 for C282Y, 0.108 for H63D and 0.010 for S65C. The frequency of mutations was significantly higher in Caucasians compared with non-Caucasians. These data are concordant with the previous literature and with the ethnical origin of the population studied.A Hemocromatose hereditária (HH) é a alteração genética mais comumente encontrada em descendentes de Europeus, em especial da região Norte. A alteração clínica característica é a acúmulo gradual do ferro em órgãos internos, que evolui para lesão orgânica e morte. Na maioria dos casos, o gene alterado é o HFE, que foi identificado em 1996. Três variantes alélicas do gene HFE foram correlacionados com a HH: a C282Y, significativamente associada com a HH; e a H63D e a S65C, que apresentam uma relação obscura com esta doença. Neste relato, foi analisada a presença destas mutações em 8 pacientes com HH e em 148 indivíduos saudáveis (doadores de sangue). Para detecção das mutações, foi realizado PCR dos exons 2 e 4 do gene HFE, seguido pela clivagem com endonucleases específicas. No grupo de pacientes com HH, observou-se 3 indivíduos homozigotos para a mutação de C282Y, um heterozigoto composto (C282Y/H63D), um heterozigoto para C282Y e ausência de mutações nos outros 3 pacientes. Nos indivíduos saudáveis, a freqüência observada foi de 0,014 para o alelo C282Y, 0,108 para o H63D e 0,010 para o S65C. A presença de mutações foi significantemente maior nos indivíduos brancos, comparando com os não brancos. Estes dados são concordantes com a literatura prévia e com a origem étnica da população estudada.Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Universidade Federal de São Paulo (UNIFESP) EPMUNIFESP, EPMSciEL

Acute promyelocytic leukemia: the study of t(15;17) translocation by fluorescent in situ hybridization, reverse transcriptase-polymerase chain reaction and cytogenetic techniques

Acute promyelocytic leukemia (AML M3) is a well-defined subtype of leukemia with specific and peculiar characteristics. Immediate identification of t(15;17) or the PML/RARA gene rearrangement is fundamental for treatment. The objective of the present study was to compare fluorescent in situ hybridization (FISH), reverse transcriptase-polymerase chain reaction (RT-PCR) and karyotyping in 18 samples (12 at diagnosis and 6 after treatment) from 13 AML M3 patients. Bone marrow samples were submitted to karyotype G-banding, FISH and RT-PCR. At diagnosis, cytogenetics was successful in 10 of 12 samples, 8 with t(15;17) and 2 without. FISH was positive in 11/12 cases (one had no cells for analysis) and positivity varied from 25 to 93% (mean: 56%). RT-PCR was done in 6/12 cases and all were positive. Four of 8 patients with t(15;17) presented positive RT-PCR as well as 2 without metaphases. The lack of RT-PCR results in the other samples was due to poor quality RNA. When the three tests were compared at diagnosis, karyotyping presented the translocation in 80% of the tested samples while FISH and RT-PCR showed the PML/RARA rearrangement in 100% of them. Of 6 samples evaluated after treatment, 3 showed a normal karyotype, 1 persistence of an abnormal clone and 2 no metaphases. FISH was negative in 4 samples studied and 2 had no material for analysis. RT-PCR was positive in 4 (2 of which showed negative FISH, indicating residual disease) and negative in 2. When the three tests were compared after treatment, they showed concordance in 2 of 6 samples or, when there were not enough cells for all tests, concordance between karyotype and RT-PCR in one. At remission, RT-PCR was the most sensitive test in detecting residual disease, as expected (positive in 4/6 samples). An incidence of about 40% of 5' breaks and 60% of 3' breaks, i.e., bcr3 and bcr1/bcr2, respectively, was observed.Universidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Disciplina de Hematologia e HemoterapiaUNIFESP, EPM, Disciplina de Hematologia e HemoterapiaSciEL

Evaluation of serum concentrations of total cholesterol in Pharmacy students of Instituto Politécnico de Bragança

Hypercholesterolemia is a factor involved in the development of atherosclerosis, which is related to cardiovascular and cerebrovascular diseases, the two main causes of death in the world. The aim of the study was determined the prevalence of hypercholesterolemia in Pharmacy students from the Instituto Politécnico de Bragança (IPB) and described and analyze the risk factors associated. From a random sample of four classes of the course of Pharmacy from IPB, were selected for this study two years (1º and 4º years), with 32 students in each class. The descriptive, cross-sectional and quantitative study was carried out by application of a screening of cholesterol levels, and with a self-completion questionnaire. The data were subjected to statistical treatment through the program SPSS 16.0. This study found that the average of total cholesterol (TC) was 197.06 ± 43.542 mg/ dL. The men had lower levels of cholesterol (174.33 mg/ dL) than females (200.78 mg/ dL) indicating the sex has influence on the levels of cholesterol. Hypercholesterolemia was more prevalent at ages ≥ 20 years, with higher average for students attending the 4th year (203.53 mg/ dL) than those attending the 1st year (190.59 mg/ dL). Concerning food, only the consumption of sausages showed association with serum concentrations of TC. Aditionally, students who make meals at home have higher CT than those who make their meals elsewhere (200.49 and 183.62 mg/ dL, respectively), allowing to conclude that the lack of time for meals provides a power based on fast food, rich in cholesterol. The high levels of TC obtained in young students alert the need for control the cholesterol levels and also take action with regard to food and physical exercise

Interviewing Peter Gow — Dundee, June 24, 2017

This interview presents an initial dialogue about Peter Gow’s trajectory as an anthropologist, trying to bring to light particularly the fieldwork experiences and events that it had not been possible to commenton and explore in the published material. Its aim is to understand more closely the particular ways in which Peter Gow had come to arrive at the insights and the analyses presented in his brilliant ethnographies with the Yine/Piro people of Amazonia

Validação de metodologia analítica para determinação de oxalato na urina

A validação metodológica permite evidenciar se os resultados obtidos por um método são confiáveis, tornando-se um elemento essencial na qualidade. Neste estudo, cujo objectivo é validar a metodologia enzimática para determinação de oxalato na urina, incluíram-se 30 amostras de urina de 24horas, pré-tratadas e estudadas em dois auto-analisadores. Os valores dos limites de detecção e quantificação foram 0,98 e 0,79 mg/L, respectivamente. Para a exactidão obteve-se p=0,713. Na precisão intermédia entre corridas não existem diferenças estatisticamente significativas, em oposição às repetições. Para a linearidade obteve-se r=1 e a sensibilidade foi 0,6%. Conclui-se que o método se mostrou exacto e linear.Method validation gives evidence if the results obtained by a method are reliable, making it an essential element in quality. In this study, whose aim is to validate the enzymatic method for determination of oxalate in urine, were included 30 urine samples of 24 hours, pre-treated and studied in two auto-analyzers. The values of limit of detection and limit of quantification were 0.98 and 0.79 mg / L, respectively. For the trueness was obtained p=0,713. In the intermediate precision, it appears that between runs there aren´t differences statistically significant, as opposed to repetitions. For the linearity was obtained r=1 and a sensitivity of 0.6%. We concluded that the method was exact and linear

Fatty acid characterization of cyanobacterial strains isolated from vela lake and mondego river rice fields (central-western, Portugal)

It is know that cyanobacterial taxonomic groups are characterized by particular lipid patterns that can be used as their biological markers. The present study examined the fatty acid composition of nostocacean heterocystous cyanobacterial strains isolated from Central-western Portuguese freshwater shallow water bodies, namely Vela Lake and rice fields from Mondego River Basin. Morphological characterization showed that strains from Vela Lake belonged to Aphanizomenon gracile (strains UADFA16 and UADFA18), Aphanizomenon flos-aquae (strain UADFA15) and Anabaena cf. solitaria (strain UADFA14) species, whereas rice field strains belonged to Anabaena cylindrica (strain UTAD_A212) and Nostoc muscorum (strain UTAD_N213). Biochemical characterization inferred from lipid analysis showed that predominant fatty acid methyl esters (FAMEs) in the lipids of the strains were palmitic, oleic and α-linolenic, with trace amounts of myristic and C20 polyunsaturated FAMEs. To our knowledge, there is almost no information about lipid composition in freshwater cyanobacterial species living in different habitats in Portugal. Therefore, this limnological study is a contribution to our investigation on freshwater diazotrophic cyanobacteria

Leishmaniose visceral canina: avaliação de métodos para detecção de IgG em amostras de soro e eluato

The Brazilian Ministry of Health recommends the culling and euthanasia of dogs with a positive serological test for canine visceral leishmaniasis (CVL). In the Municipality of Rio de Janeiro, the technique used for the diagnosis of CVL is the indirect fluorescent antibody test (IFAT), using blood samples eluted on filter paper (eluate). A dog survey was conducted over a period of one year in the region of Carapiá, in order to evaluate the diagnosis of CVL in this region. All animals underwent clinical examination, and blood samples (serum and eluate) were collected for analysis by enzyme immunoassay (ELISA) and IFAT. A skin biopsy was obtained for parasitological examination (culture). A total of 305 animals were studied and Leishmania chagasi was isolated from nine animals. Sensitivity and specificity were 100% and 96.6% for ELISA, respectively, 100% and 65.5% for IFAT (cut-off at a 1:40 dilution), 100% and 83.4% for IFAT (cut-off at a 1:80 dilution), and 22.2% and 97.0% for eluate IFAT. In conclusion, ELISA was the best tool for the diagnosis of CVL among the serological techniques tested. The present results suggest the need for a better evaluation of filter paper IFAT as the only diagnostic method for CVL in the Municipality of Rio de Janeiro.O Ministério da Saúde recomenda a eutanásia de cães sororreatores como controle da leishmaniose visceral canina (LVC). No Município do Rio de Janeiro, a técnica utilizada para o diagnóstico da LVC é o teste de imunofluorescência indireta (IFI), utilizando amostras de sangue eluídas em papel de filtro (eluato). Um levantamento, durante um ano, foi conduzido na região de Carapiá, a fim de avaliar o diagnóstico da LVC nesta região. Todos os animais foram submetidos a exame clínico e coleta de sangue (soro e eluato) para realização do ensaio imunoenzimático (ELISA) e imunofluorescência indireta (IFI). Biópsia de pele foi obtida para o exame parasitológico (cultura). Foram avaliados 305 (89,4%) animais de uma população de 341 cães e Leishmania chagasi foi isolada de nove animais. A sensibilidade e especificidade do ELISA foram de 100% e 96,6%, na IFI (ponto de corte 1:40) de 100% e 65,5%, na IFI (ponto de corte 1:80) de 100% e 83,4% e na IFI (eluato) de 22,2% e 97,0%, respectivamente. A partir dos resultados obtidos podemos concluir que entre as técnicas sorológicas empregadas, o teste de ELISA apresentou-se como a melhor ferramenta para o diagnóstico da LVC. Os resultados sugerem a necessidade de uma melhor avaliação do teste de IFI realizada com eluato, como único método de diagnóstico para LVC no município do Rio de Janeiro

Impact of Early Postnatal Androgen Exposure on Voice Development

Background: the impact of early postnatal androgen exposure on female laryngeal tissue may depend on certain characteristics of this exposure. We assessed the impact of the dose, duration, and timing of early androgen exposure on the vocal development of female subjects who had been treated for adrenocortical tumor (ACT) in childhood.Methods: the long-term effects of androgen exposure on the fundamental vocal frequency (F0), vocal pitch, and final height and the presence of virilizing signs were examined in 9 adult (age, 18.4 to 33.5 years) and 10 adolescent (13.6 to 17.8 years) female ACT patients. We also compared the current values with values obtained 0.9 years to 7.4 years after these subjects had undergone ACT surgery, a period during which they had shown normal androgen levels.Results: of the 19 subjects, 17 (89%) had been diagnosed with ACT before 4 years of age, 1 (5%) at 8.16 years, and 1 (5%) at 10.75 years. Androgen exposure (2 to 30 months) was sufficiently strong to cause pubic hair growth in all subjects and clitoromegaly in 74% (14/19) of the subjects, but did not reduce their height from the target value. Although androgen exposure induced a remarkable reduction in F0 (132 Hz) and moderate pitch virilization in 1 subject and partial F0 virilization, resulting in F0 of 165 and 169 Hz, in 2 subjects, the majority had normal F0 ranging from 189 to 245 Hz.Conclusions: Female laryngeal tissue is less sensitive to androgen exposure between birth and adrenarche than during other periods. Differential larynx sensitivity to androgen exposure in childhood and F0 irreversibility in adulthood are age-, concentration-, duration-, and timing-dependent events that may also be affected by exposure to inhibitory or stimulatory hormones. Further studies are required to better characterize each of these factors.Brazilian State of Parana Secretary of Science, Technology and Higher Education (SETI)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Raul Carneiro Hospital Association for Childhood Protection (AHPIRC)American Lebanese Syrian Associated Charities (ALSAC)SETIAHPIRCALSACInst Pesquisa Pele Pequeno Principe, Curitiba, Parana, BrazilHosp Pequeno Principe, Curitiba, Parana, BrazilFac Pequeno Principe, Curitiba, Parana, BrazilInst Voz Maringa, Maringa, Parana, BrazilUniversidade Federal de São Paulo, Dept Fonoaudiol, São Paulo, BrazilClin Voz, Curitiba, Parana, BrazilIrmandade Santa Casa Misericordia São Paulo, São Paulo, BrazilUniv Fed Parana, Dept Saude Comunitaria, BR-80060000 Curitiba, Parana, BrazilUniversidade Federal de São Paulo, Dept Fonoaudiol, São Paulo, BrazilWeb of Scienc

Allergies and Diabetes as Risk Factors for Dengue Hemorrhagic Fever: Results of a Case Control Study

Dengue is an arboviral disease that affects large areas of countries in tropical and subtropical regions of the world. Around 500,000 cases and 22,000 deaths of dengue hemorrhagic fever (DHF)/Dengue Shock Syndrome (DSS), the most severe presentations of this disease, occur annually. It is unclear why some cases of dengue fever (0.5% to 4%) progress to DHF/DSS. There is weak evidence that some diseases could have a role in this process, such as diabetes, hypertension, and allergies. In epidemics most dengue fever cases are sent home as there are too many to be kept in observation, but if it were possible to identify those with a higher risk of progression to DHF, they could be kept for observation, for early detection of signs, symptoms and alterations in laboratory tests suggestive of DHF, to enable timely and effective clinical management and early intervention. We study this issue and we believe that the evidence produced in this study, when confirmed in other studies, suggests that screening criteria might be used to identify adult patients at a greater risk of developing DHF with a recommendation that they remain under observation and monitoring in a hospital

Pre-Columbian soil fertilization and current management maintain food resource availability in old-growth Amazonian forests

Aims: The extent and persistence of pre-Columbian human legacies in old-growth Amazonian forests are still controversial, partly because modern societies re-occupied old settlements, challenging the distinction between pre- and post-Columbian legacies. Here, we compared the effects of pre-Columbian vs. recent landscape domestication processes on soils and vegetation in two Amazonian regions. Methods: We studied forest landscapes at varying distances from pre-Columbian and current settlements inside protected areas occupied by traditional and indigenous peoples in the lower Tapajós and the upper-middle Madeira river basins. By conducting 69 free-listing interviews, participatory mappings, guided-tours, 27 forest inventories, and soil analysis, we assessed the influences of pre-Columbian and current activities in soils and plant resources surrounding the settlements. Results: In both regions, we found that pre-Columbian villages were more densely distributed across the landscape than current villages. Soil nutrients (mainly Ca and P) were higher closer to pre-Columbian villages but were generally not related to current villages, suggesting past soil fertilization. Soil charcoal was frequent in all forests, suggesting frequent fire events. The density of domesticated plants used for food increased in phosphorus enriched soils. In contrast, the density of plants used for construction decreased near current villages. Conclusions: We detected a significant effect of past soil fertilization on food resources over extensive areas, supporting the hypothesis that pre-Columbian landscape domestication left persistent marks on Amazonian landscapes. Our results suggest that a combination of pre-Columbian phosphorus fertilization with past and current management drives plant resource availability in old-growth forests.</p