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Sample records for brazil presenting mutations

  1. Genetic Improvement of Crops by Mutation Techniques in Brazil

    International Nuclear Information System (INIS)

    Agriculture in Brazil has a prominent position in the country's economy due to its large spread under diverse but suitable climatic conditions which are indispensable for higher performance of many crops. Therefore, constant efforts in plant breeding by traditional methods have led Brazil to be internationally recognized as a tropical agricultural country. Spontaneous mutations constitute the source of genetic variability and have been long utilized by breeders. In Brazil, various cultivars of seed propagated, as well as vegetatively propagated plants, were obtained from spontaneous mutation, such as cultivar 'Carioca' (Phaseolus vulgaris L.) and cultivar 'Bahianinha' (Citrus sinensis L.). After introduction of mutation induction in Brazil, several breeding programmes using mutagens, such as nuclear radiation, alkylating and non-alkylating chemical compounds, have been carried out to increase crop production. As will be reported, various mutants were selected or are in the process of selection. (author)

  2. Counseling in Brazil: Past, Present, and Future

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    Hutz-Midgett, Aida; Hutz, Claudio Simon

    2012-01-01

    This article describes counseling in Brazil, which is rooted in career and vocational guidance. Although considered a distinct discipline, counseling falls under the umbrella of psychology. The multicultural movement is gaining momentum in Brazil, and counselors are pioneers working with socioracial minority college students. This is an emerging…

  3. The Lebanese mutation as an important cause of familial hypercholesterolemia in Brazil

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    Alberto F.L.

    1999-01-01

    Full Text Available Familial hypercholesterolemia (FH is a common autosomal disorder that affects about one in 500 individuals in most Western populations and is caused by a defect in the low-density-lipoprotein receptor (LDLr gene. In this report we determined the molecular basis of FH in 59 patients from 31 unrelated Brazilian families. All patients were screened for the Lebanese mutation, gross abnormalities of the LDLr gene, and the point mutation in the codon 3500 of the apolipoprotein B-100 gene. None of the 59 patients presented the apoB-3500 mutation, suggesting that familial defective ApoB-100 (FDB is not a major cause of inherited hypercholesterolemia in Brazil. A novel 4-kb deletion in the LDLr gene, spanning from intron 12 to intron 14, was characterized in one family. Both 5' and 3' breakpoint regions were located within Alu repetitive sequences, which are probably involved in the crossing over that generated this rearrangement. The Lebanese mutation was detected in 9 of the 31 families, always associated with Arab ancestry. Two different LDLr gene haplotypes were demonstrated in association with the Lebanese mutation. Our results suggest the importance of the Lebanese mutation as a cause of FH in Brazil and by analogy the same feature may be expected in other countries with a large Arab population, such as North American and Western European countries.

  4. CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS).

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    El-Husny, Antonette; Raiol-Moraes, Milene; Amador, Marcos; Ribeiro-Dos-Santos, André M; Montagnini, André; Barbosa, Silvanira; Silva, Artur; Assumpção, Paulo; Ishak, Geraldo; Santos, Sidney; Pinto, Pablo; Cruz, Aline; Ribeiro-Dos-Santos, Ândrea

    2016-05-13

    Gastric cancer is considered to be the fifth highest incident tumor worldwide and the third leading cause of cancer deaths. Developing regions report a higher number of sporadic cases, but there are only a few local studies related to hereditary cases of gastric cancer in Brazil to confirm this fact. CDH1 germline mutations have been described both in familial and sporadic cases, but there is only one recent molecular description of individuals from Brazil. In this study we performed Next Generation Sequencing (NGS) to assess CDH1 germline mutations in individuals who match the clinical criteria for Hereditary Diffuse Gastric Cancer (HDGC), or who exhibit very early diagnosis of gastric cancer. Among five probands we detected CDH1 germline mutations in two cases (40%). The mutation c.1023T > G was found in a HDGC family and the mutation c.1849G > A, which is nearly exclusive to African populations, was found in an early-onset case of gastric adenocarcinoma. The mutations described highlight the existence of gastric cancer cases caused by CDH1 germline mutations in northern Brazil, although such information is frequently ignored due to the existence of a large number of environmental factors locally. Our report represent the first CDH1 mutations in HDGC described from Brazil by an NGS platform. PMID:27192129

  5. CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS).

    Science.gov (United States)

    El-Husny, Antonette; Raiol-Moraes, Milene; Amador, Marcos; Ribeiro-Dos-Santos, André M; Montagnini, André; Barbosa, Silvanira; Silva, Artur; Assumpção, Paulo; Ishak, Geraldo; Santos, Sidney; Pinto, Pablo; Cruz, Aline; Ribeiro-Dos-Santos, Ândrea

    2016-05-13

    Gastric cancer is considered to be the fifth highest incident tumor worldwide and the third leading cause of cancer deaths. Developing regions report a higher number of sporadic cases, but there are only a few local studies related to hereditary cases of gastric cancer in Brazil to confirm this fact. CDH1 germline mutations have been described both in familial and sporadic cases, but there is only one recent molecular description of individuals from Brazil. In this study we performed Next Generation Sequencing (NGS) to assess CDH1 germline mutations in individuals who match the clinical criteria for Hereditary Diffuse Gastric Cancer (HDGC), or who exhibit very early diagnosis of gastric cancer. Among five probands we detected CDH1 germline mutations in two cases (40%). The mutation c.1023T > G was found in a HDGC family and the mutation c.1849G > A, which is nearly exclusive to African populations, was found in an early-onset case of gastric adenocarcinoma. The mutations described highlight the existence of gastric cancer cases caused by CDH1 germline mutations in northern Brazil, although such information is frequently ignored due to the existence of a large number of environmental factors locally. Our report represent the first CDH1 mutations in HDGC described from Brazil by an NGS platform.

  6. Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil

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    Zama Messala Luna da Silveira

    2011-01-01

    Full Text Available 35 unrelated individuals were studied for characterization as either heterozygous or homozygous for beta-thalassemia. Molecular analysis was done by PCR/RFLP to detect the mutations most commonly associated with beta-thalassemia (β0IVS-I-1, β+IVS-I-6, and β039. In the patients who showed none of these mutations, the beta-globin genes were sequenced. Of the 31 heterozygous patients, 13 (41.9% had the β+IVS-I-6 mutation, 15 (48.4% the β0IVS-I-1 mutation, 2 (6.5% the β+IVS-I-110 mutation and 1 (3.2% the β+IVS-I-5 mutation. IVS-I-6 was detected in the four homozygotes. The mutation in codon 39, often found in previous studies in Brazil, was not detected in the present case. This is the first study aiming at identifying mutations that determine beta-thalassemia in the state of Rio Grande do Norte.

  7. Clinical presentation and mutations in Danish patients with Wilson disease

    DEFF Research Database (Denmark)

    Møller, Lisbeth Birk; Horn, Nina; Jeppesen, Tina Dysgaard;

    2011-01-01

    This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49 500. Among routinely used diagnostic tests, none were....../27 mutations as either severe (age of onset 20 years), and correctly predicted the age of onset in 37/39 patients. This method should be tested in other Wilson populations....

  8. Clinical presentation and mutations in Danish patients with Wilson disease

    DEFF Research Database (Denmark)

    Møller, Lisbeth Birk; Horn, Nina; Jeppesen, Tina Dysgaard;

    2011-01-01

    This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49¿500. Among routinely used diagnostic tests, none were....../27 mutations as either severe (age of onset 20 years), and correctly predicted the age of onset in 37/39 patients. This method should be tested in other Wilson populations....

  9. BRAT1 mutations present with a spectrum of clinical severity.

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    Srivastava, Siddharth; Olson, Heather E; Cohen, Julie S; Gubbels, Cynthia S; Lincoln, Sharyn; Davis, Brigette Tippin; Shahmirzadi, Layla; Gupta, Siddharth; Picker, Jonathan; Yu, Timothy W; Miller, David T; Soul, Janet S; Poretti, Andrea; Naidu, SakkuBai

    2016-09-01

    Mutations in BRAT1, encoding BRCA1-associated ATM activator 1, are associated with a severe phenotype known as rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL; OMIM # 614498), characterized by intractable seizures, hypertonia, autonomic instability, and early death. We expand the phenotypic spectrum of BRAT1 related disorders by reporting on four individuals with various BRAT1 mutations resulting in clinical severity that is either mild or moderate compared to the severe phenotype seen in RMFSL. Representing mild severity are three individuals (Patients 1-3), who are girls (including two sisters, Patients 1-2) between 4 and 10 years old, with subtle dysmorphisms, intellectual disability, ataxia or dyspraxia, and cerebellar atrophy on brain MRI; additionally, Patient 3 has well-controlled epilepsy and microcephaly. Representing moderate severity is a 15-month-old boy (Patient 4) with severe global developmental delay, refractory epilepsy, microcephaly, spasticity, hyperkinetic movements, dysautonomia, and chronic lung disease. In contrast to RMFSL, his seizure onset occurred later at 4 months of age, and he is still alive. All four of the individuals have compound heterozygous BRAT1 mutations discovered via whole exome sequencing: c.638dupA (p.Val214Glyfs*189); c.803+1G>C (splice site mutation) in Patients 1-2; c.638dupA (p.Val214Glyfs*189); c.419T>C (p.Leu140Pro) in Patient 3; and c.171delG (p.Glu57Aspfs*7); c.419T>C (p.Leu140Pro) in Patient 4. Only the c.638dupA (p.Val214Glyfs*189) mutation has been previously reported in association with RMFSL. These patients illustrate that, compared with RMFSL, BRAT1 mutations can result in both moderately severe presentations evident by later-onset epilepsy and survival past infancy, as well as milder presentations that include intellectual disability, ataxia/dyspraxia, and cerebellar atrophy. © 2016 Wiley Periodicals, Inc. PMID:27282546

  10. Photovoltaic Reliability Group activities in USA and Brazil (Presentation Recording)

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    Dhere, Neelkanth G.; Cruz, Leila R. O.

    2015-09-01

    Recently prices of photovoltaic (PV) systems have been reduced considerably and may continue to be reduced making them attractive. If these systems provide electricity over the stipulated warranty period, it would be possible attain socket parity within the next few years. Current photovoltaic module qualifications tests help in minimizing infant mortality but do not guarantee useful lifetime over the warranty period. The PV Module Quality Assurance Task Force (PVQAT) is trying to formulate accelerated tests that will be useful towards achieving the ultimate goal of assuring useful lifetime over the warranty period as well as to assure manufacturing quality. Unfortunately, assuring the manufacturing quality may require 24/7 presence. Alternatively, collecting data on the performance of fielded systems would assist in assuring manufacturing quality. Here PV systems installed by home-owners and small businesses can constitute as an important untapped source of data. The volunteer group, PV - Reliable, Safe and Sustainable Quality! (PVRessQ!) is providing valuable service to small PV system owners. Photovoltaic Reliability Group (PVRG) is initiating activities in USA and Brazil to assist home owners and small businesses in monitoring photovoltaic (PV) module performance and enforcing warranty. It will work in collaboration with small PV system owners, consumer protection agencies. Brazil is endowed with excellent solar irradiance making it attractive for installation of PV systems. Participating owners of small PV systems would instruct inverter manufacturers to copy the daily e-mails to PVRG and as necessary, will authorize the PVRG to carry out review of PV systems. The presentation will consist of overall activities of PVRG in USA and Brazil.

  11. Calreticulin Mutated Essential Thrombocythemia Presenting as Acute Coronary Syndrome

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    Bassel Nazha

    2015-01-01

    Full Text Available Essential thrombocythemia (ET is a myeloproliferative neoplasm characterized by a clonal expansion of megakaryocytes. ET can result in both arterial and venous thrombosis. Involvement of the coronary arteries has been reported. Patients who harbor a CALR mutation are half as likely to suffer a thrombotic event as compared to patients with a JAK2 mutation. We report a case of CALR-mutated ET whose initial disease manifestation was a non-ST segment elevation myocardial infarction.

  12. Mutation breeding for irrigated rice at EMPASC, Santa Catarina, Brazil

    International Nuclear Information System (INIS)

    Mutation breeding for irrigated rice culture was initiated in 1985 at Estacao Experimental de Itajai (EMPASC), Santa Catarina in cooperation with Centro de Energia Nuclear na Agricultura (CENA), Piracicaba, Sao Paulo. The traditional breeding programme conducted by EMPASC at Itajai is primarily based on the introduction of cultivars, pure lines, and hybridization. The new introductions have not been as good as the cultivars now grown by rice farmers. Rice breeders are constantly attempting to develop new cultivars for irrigated rice culture and seeking new methods to supplement the conventional breeding methods. The introduction of mutation techniques to the breeding programme at Itajai began with the irradiation of seeds of 4 rice cultivars with 12 and 24 kr (120 and 240 Gy) of gamma rays at CENA in 1985. The irradiated seeds were sown at Itajai in the same year. Seeds were harvested from 3 panicles of each plant. The mutant plants were then cultivated to develop select progenies. Mutants were visible only in the cultivars IRGA 408, EMPASC 105, and Pratao Precoce. Fifty-seven progeny were selected primarily from IRGA 408 and EMPASC 101 for the M4 generation. Progeny from Pratao Precoce were eliminated because they were not stable. Mutant progeny from EMPASC 101 were eliminated in the M5 generation because of a high incidence of chalk in the rice grains. The agronomic performance of IRGA 408 progeny was good and some mutant lines were further evaluated as follows: one in regional trials, 5 in advanced trials, and 5 in preliminary trials. Mutant line SCM-3-1-2 was evaluated in a regional trial and showed strong promise of becoming a new cultivar. (author). 3 refs, 4 tabs

  13. European Direct Investment in Brazil, 1860 to the Present

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    Âmara Fuccio de Fraga e Silva

    2010-09-01

    Full Text Available

    European direct investment in Brazil dates back to the discovery of the country and has been since then either hegemonic or more important than a superficial observation can grasp, as this work aims at showing. During the 20

    th century, the United States has replaced Britain as the world’s economic superpower and the largest direct investor. US dominance in the world economy and geographical proximity to Brazil would suggest that US investments were by far the largest in the country during that century. Furthermore, as Japan had become the second largest economy in the world in the 1980s, we would expect that this would be reflected in the data of the largest multinationals in Brazil. However, as our investigation suggests, Western European direct investment has been as large (and in many occasions even larger as that of the USA and Japanese firms have never had a prominent presence among the largest firms in Brazil, at least until the late 1990s.

  14. The Evolving Genotypic Profile of HIV-1 Mutations Related to Antiretroviral Treatment in the North Region of Brazil.

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    Lopes, Carmen Andréa F; Soares, Marcelo A; Falci, Diego R; Sprinz, Eduardo

    2015-01-01

    HIV related mutations can be associated with decreased susceptibility to antiretrovirals and treatment failures. There is scarce information about HIV mutations in persons failing HIV treatment in North of Brazil. Our aim was to evaluate evolution of HIV subtypes and mutations patterns related to antiretroviral therapy in this region. We investigated HIV resistance profile in adults failing antiretroviral regimen in Northern Brazil from January, 2004, through December, 2013. Genotype data was evaluated through Stanford University algorithm. There were 377 genotypes from different individuals to evaluate. Resistance mutations were similar to worldwide reports and related to antiretroviral exposure. Most prevalent mutations in the reverse transcriptase gene were M184V (80.1%) and K130N (40.6%). Thymidine associated mutations were more frequent in multiexperienced patients. Most common protease mutations were M46I, V82A, I54V, L90M, I84V, M46L, and L76V. Subtype B was the most prevalent (90.7%). There were differences between subtypes B and non-B mutations. We documented for the first time subtypes and patterns of HIV associated mutations in Northern Brazil. A1 subtype was identified for the first time in this area. Depending on drug regimen and how experienced the patient is, an empirical switch of a failing antiretroviral treatment could be a reasonable option.

  15. Association of the germline TP53 R337H mutation with breast cancer in southern Brazil

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    Srivastava Kumar

    2008-12-01

    Full Text Available Abstract Background The germline TP53-R337H mutation is strongly associated with pediatric adrenocortical tumors (ACT in southern Brazil; it has low penetrance and limited tissue specificity in most families and therefore is not associated with Li-Fraumeni syndrome. However, other tumor types, mainly breast cancer, have been observed in carriers of several unrelated kindreds, raising the possibility that the R337H mutation may also contribute to breast tumorigenesis in a genetic background-specific context. Methods We conducted a case-control study to determine the prevalence of the R337H mutation by sequencing TP53 exon 10 in 123 women with breast cancer and 223 age- and sex-matched control subjects from southern Brazil. Fisher's test was used to compare the prevalence of the R337H. Results The R337H mutation was found in three patients but in none of the controls (p = 0.0442. Among the carriers, two had familial history of cancer meeting the Li-Fraumeni-like criteria. Remarkably, tumors in each of these three cases underwent loss of heterozygosity by eliminating the mutant TP53 allele rather than the wild-type allele. Polymorphisms were identified within the TP53 (R72P and Ins16 and MDM2 (SNP309 genes that may further diminish TP53 tumor suppressor activity. Conclusion These results demonstrate that the R337H mutation can significantly increase the risk of breast cancer in carriers, which likely depends on additional cooperating genetic factors. These findings are also important for understanding how low-penetrant mutant TP53 alleles can differentially influence tumor susceptibility.

  16. GNAS gene mutation may be present only transiently during colorectal tumorigenesis

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    Zauber, Peter; Marotta, Stephen P; Sabbath-Solitare, Marlene

    2016-01-01

    Mutations of the gene GNAS have been shown to activate the adenylate cyclase gene and lead to constitutive cAMP signaling. Several preliminary reports have suggested a role for GNAS gene mutations during colorectal carcinogenesis, particularly mucinous carcinomas. The aim of this study was to clarify the incidence of GNAS mutations in adenomas (tubular, tubulovillous, and villous), carcinomas with residual adenoma, and carcinomas, and to relate these findings to mutations of the KRAS gene and to the mucinous status of the tumors. We used standard PCR techniques and direct gene sequencing to evaluate tumors for gene mutations. No GNAS mutations were identified in 25 tubular adenomas, but were present in 6.4% of tubulovillous adenomas and 11.2% of villous adenomas. A GNAS mutation was found in 9.7% of the benign portion of carcinoma with residual adenoma, but in none of 86 carcinomas. A similar trend was seen for KRAS mutation across the five groups of tumors. GNAS mutations may function as an important driver mutation during certain phases of colorectal carcinogenesis, but may then be lost once the biological advantage gained by the mutated gene is no longer necessary to sustain or advance tumor development. PMID:27186325

  17. Characterization of a Hepatitis B virus strain in southwestern Paraná, Brazil, presenting mutations previously associated with anti-HBs Resistance Caracterização de uma cepa de hepatite por vírus B no sudoeste do Paraná, Brasil, apresentando mutações previamente associadas à resistência anti-HBs

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    Dennis Armando Bertolini

    2010-02-01

    Full Text Available The present study investigated if hepatitis B virus (HBV mutants circulate in the southwestern region of the State of Paraná, Brazil, by analyzing samples from children who received immunoprophylaxis but were born to HBV carrier mothers. Samples from 25 children were screened for HBV serum markers and for HBV DNA by PCR. Only one sample was positive for HBsAg, anti-HBs and HBV DNA, although the child had been vaccinated. Analysis of the S gene sequence of this sample showed the presence of a proline at position 105, a serine at position 114, three threonines at positions 115, 116 and 140, and a glutamine at position 129. The presence of these amino acids, except for serine at position 114, has been related to monoclonal or polyclonal therapy with anti-HBs after liver transplantation, whereas the presence of threonine at position 116 has been described in immunized children from Singapore. This finding demonstrates the possible circulation of HBV strains resistant to hepatitis B immunoprophylaxis in southwestern Paraná, Brazil. The genotype of the sample was identified as genotype D, which is frequently found in the region studied. Since 36% of the children had received incomplete or no immunoprophylaxis, more extensive follow-up of children born to HBsAg-positive mothers is needed.O presente estudo investigou se mutantes do vírus da hepatite B (HBV circulam na região Sudoeste do Estado do Paraná, Brasil, analisando amostras de crianças que receberam a imunoprofilaxia por terem nascido de mães portadoras do HBV. Amostras de 25 crianças foram analisadas para os marcadores sorológicos do HBV e para o DNA-HBV por PCR. Somente uma amostra foi positiva para AgHBs, anti-HBs e DNA-HBV, apesar da criança ter sido vacinada. Análises da seqüência do gene S desta amostra mostrou a presença de uma prolina na posição 105, uma serina na posição 114, três treoninas nas posições 115, 116 e 140, e uma glutamina na posição 129. A presen

  18. Prevalence of DF508, G551D, G542X, and R553X mutations among cystic fibrosis patients in the North of Brazil

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    Araújo F.G. de

    2005-01-01

    Full Text Available Cystic fibrosis (CF is the most common genetic disease among Caucasians and is rare among sub-Saharan Africans. The Brazilian population is not ethnically homogeneous but it is the result of three-way ethnic admixture of Europeans, Africans and Amerindians in varying proportions, depending on the region. In the present study, we investigated 33 patients who had been diagnosed and are currently under treatment for CF at the University Hospital João de Barros Barreto, Belém, Pará State. The molecular analysis for G542X, G551D and R553X mutations was performed by PCR followed by RFLP using BstNI, HincII and MboI, respectively, in polyacrylamide gel eletrophoresis and stained with AgNO3. ThedeltaF508 mutation (a deletion of 3 bp was only analyzed by polyacrylamide gel electrophoresis and stained with AgNO3. Each sample was analyzed for regions of interest in the CFTR gene using amplified by PCR and specific primers. The deltaF508 and G551D mutations presented frequencies of 22.7 and 3%, respectively. In 74.3% of the remaining patients, none of the mutations investigated was found. The present study characterized in a sample of patients with an established clinical diagnosis of CF (asthma, repeated bronchopneumonia, disorders of nutritional status, etc. the most frequent mutation ( deltaF508 in the North region of Brazil and is also the first report of the G551D mutation. In spite of the wide spectrum of CF mutations and the heterogeneous ethnic origin of the Amazon population, the molecular diagnosis is a helpful additional tool for the diagnosis and treatment of CF patients.

  19. Curriculum Studies in Brazil: Intellectual Histories, Present Circumstances. International and Development Education

    Science.gov (United States)

    Pinar, William F., Ed.

    2011-01-01

    This collection, comprised of chapters focused on the intellectual histories and present circumstances of curriculum studies in Brazil, is Pinar's summary of exchanges (occurring over a two-year period) between the authors and members of an International Panel (scholars working in Finland, South Africa, the United States). From these and the…

  20. Mutation breeding of wheat and triticale in Rio Grande do Sul State, Brazil

    International Nuclear Information System (INIS)

    A mutation breeding programme was initiated in 1985 at IPAGRO in Rio Grande do Sul State, Brazil. Seeds from several wheat (Triticum aestivum) and triticale hexaploid cultivars were treated with 60Co gamma rays and ethylmethanesulphonate (EMS) to induce mutants resistant to diseases, shorter in height, and earlier maturing. In addition, F1 seeds from crosses between triticale and wheat were irradiated with gamma rays to increase translocations and recombinations. In the M1 generation, the F1 plants were backcrossed to triticale. In 1989, the first local replicated yield trials consisted of 1072 genotypes selected from the different populations. From these yield trials, 11 cooperative trials consisting of 245 genotypes were organized in 1990 and distributed in 3 different regions in the state. From 3 wheat trials, 14 mutant lines were selected on the basis of superior yields. Among these, some lines from RS-2 are of special interest because of reduced leaf rust. Some lines from Butui were shorter and earlier than the original parent. Mutant lines derived from the irradiated hybrids of triticale x wheat were tested in 8 yield trials. From 4 of the trials, 28 lines were selected because of higher yields than that of the triticale control, TAS-1. In the other 4 trials the lines lacked uniformity, therefore, new selections were made. In comparing the selected genotypes of triticale with the control, several lines were superior in weight of hectoliter but no useful lines were identified for semidwarfness, earliness, or higher 1000-grain weight. Evidence for the success of the mutation breeding programme is not only the promising advance mutant lines but also thousands of selected plants which are still being evaluated. (author). 18 refs, 7 tabs

  1. Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene

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    Ricardo Schmitt de Bem

    2013-08-01

    Full Text Available OBJECTIVE: Wilson's disease (WD is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil. METHODS: 36 WD subjects were studied and classified according to their clinical and epidemiological data. In 23 subjects the ATP7B gene was analyzed. RESULTS: Fourteen distinct mutations were detected in at least one of the alleles. The c.3207C>A substitution at exon 14 was the most common mutation (allelic frequency=37.1% followed by the c.3402delC at exon 15 (allelic frequency=11.4%. The mutations c.2018-2030del13 at exon 7 and c.4093InsT at exon 20 are being reported for the first time. CONCLUSION: The c.3207C>A substitution at exon 14, was the most common mutation, with an allelic frequency of 37.1%. This mutation is the most common mutation described in Europe.

  2. Impact of the number of failed therapeutic regimes on the development of resistance mutations to HIV-1 in northeast Brazil

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    Melissa Soares Medeiros

    2007-10-01

    Full Text Available Highly-potent antiretroviral therapy is necessary to avoid viral replication in HIV patients; however, it can favor the appearance of resistance mutations. The mutations 41L, 67N, 70R, 210W, 215Y/F, 219E/Q, 44D and 118I are defined as nucleoside analogous mutations (NAMs, because they affect the efficacy of all nucleoside reverse transcriptase inhibitors (NRTI. The mutation most frequently associated with non-nucleoside reverse transcriptase inhibitors (NNRTIs is 103N. 33W/F, 82A/F/L/T, 84V and 90M are called protease inhibitor resistance-associated mutations (PRAM, because they are associated with resistance to several protease inhibitors (PI. This study evaluated the development of resistance mutations and examine the susceptibility of HIV with these mutations to antiretrovirals in HIV-1 patients who have failed one or more therapy regimes. Analyses were made of 101 genotypic tests of patients with therapeutic failure to 2 or 3-drug regimens with NRTI, NNRTI or PI. We used the Stanford database to define the susceptibility profile of the viruses. The samples were divided into three treatment-failure groups: first (F, second (S and multi-failure (MF to antiretroviral regimens, and we correlated these groups with resistance profiles and principal mutations. There was a significant increase in resistance mutations V82A/F/L/T, I84V, L90M, M41L, K70R, L210W, T215Y/F and K219Q/E in MF. We also found significantly higher resistance to zidovudine, didanosine, stavudine and abacavir in MF. There was no increase in resistance to tenofovir (p=0.28 and lopinavir (p=0.079 in MF. A high degree of resistance to NNRTIs was observed in all groups. Increased resistance mutations will affect future therapeutic options for HIV patients in Brazil because it results in a significant increase in resistance to antiretroviral drugs.

  3. Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil.

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    Carraro, Dirce Maria; Koike Folgueira, Maria Aparecida Azevedo; Garcia Lisboa, Bianca Cristina; Ribeiro Olivieri, Eloisa Helena; Vitorino Krepischi, Ana Cristina; de Carvalho, Alex Fiorini; de Carvalho Mota, Louise Danielle; Puga, Renato David; do Socorro Maciel, Maria; Michelli, Rodrigo Augusto Depieri; de Lyra, Eduardo Carneiro; Grosso, Stana Helena Giorgi; Soares, Fernando Augusto; Achatz, Maria Isabel Alves de Souza Waddington; Brentani, Helena; Moreira-Filho, Carlos Alberto; Brentani, Maria Mitzi

    2013-01-01

    Germline mutations in BRCA1, BRCA2 and TP53 genes have been identified as one of the most important disease-causing issues in young breast cancer patients worldwide. The specific defective biological processes that trigger germline mutation-associated and -negative tumors remain unclear. To delineate an initial portrait of Brazilian early-onset breast cancer, we performed an investigation combining both germline and tumor analysis. Germline screening of the BRCA1, BRCA2, CHEK2 (c.1100delC) and TP53 genes was performed in 54 unrelated patients profiles as well as hormonal receptors and HER2 expression/amplification. Germline mutations were detected in 12 out of 54 patients (22%) [7 in BRCA1 (13%), 4 in BRCA2 (7%) and one in TP53 (2%) gene]. A cancer familial history was present in 31.4% of the unrelated patients, from them 43.7% were carriers for germline mutation (37.5% in BRCA1 and in 6.2% in the BRCA2 genes). Fifty percent of the unrelated patients with hormone receptor-negative tumors carried BRCA1 mutations, percentage increasing to 83% in cases with familial history of cancer. Over-representation of DNA damage-, cellular and cell cycle-related processes was detected in the up-regulated genes of BRCA1/2-associated tumors, whereas cell and embryo development-related processes were over-represented in the up-regulated genes of BRCA1/2-negative tumors, suggesting distinct mechanisms driving the tumorigenesis. An initial portrait of the early-onset breast cancer patients in Brazil was generated pointing out that hormone receptor-negative tumors and positive familial history are two major risk factors for detection of a BRCA1 germline mutation. Additionally, the data revealed molecular factors that potentially trigger the tumor development in young patients. PMID:23469205

  4. Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil.

    Directory of Open Access Journals (Sweden)

    Dirce Maria Carraro

    Full Text Available Germline mutations in BRCA1, BRCA2 and TP53 genes have been identified as one of the most important disease-causing issues in young breast cancer patients worldwide. The specific defective biological processes that trigger germline mutation-associated and -negative tumors remain unclear. To delineate an initial portrait of Brazilian early-onset breast cancer, we performed an investigation combining both germline and tumor analysis. Germline screening of the BRCA1, BRCA2, CHEK2 (c.1100delC and TP53 genes was performed in 54 unrelated patients <35 y; their tumors were investigated with respect to transcriptional and genomic profiles as well as hormonal receptors and HER2 expression/amplification. Germline mutations were detected in 12 out of 54 patients (22% [7 in BRCA1 (13%, 4 in BRCA2 (7% and one in TP53 (2% gene]. A cancer familial history was present in 31.4% of the unrelated patients, from them 43.7% were carriers for germline mutation (37.5% in BRCA1 and in 6.2% in the BRCA2 genes. Fifty percent of the unrelated patients with hormone receptor-negative tumors carried BRCA1 mutations, percentage increasing to 83% in cases with familial history of cancer. Over-representation of DNA damage-, cellular and cell cycle-related processes was detected in the up-regulated genes of BRCA1/2-associated tumors, whereas cell and embryo development-related processes were over-represented in the up-regulated genes of BRCA1/2-negative tumors, suggesting distinct mechanisms driving the tumorigenesis. An initial portrait of the early-onset breast cancer patients in Brazil was generated pointing out that hormone receptor-negative tumors and positive familial history are two major risk factors for detection of a BRCA1 germline mutation. Additionally, the data revealed molecular factors that potentially trigger the tumor development in young patients.

  5. Hepatocellular carcinoma and liver cirrhosis TP53 mutation analysis reflects a moderate dietary exposure to aflatoxins in Espírito Santo State, Brazil.

    Science.gov (United States)

    de Carvalho, Fernanda Magri; de Almeida Pereira, Thiago; Gonçalves, Patrícia Lofego; Jarske, Robson Dettmann; Pereira, Fausto Edmundo Lima; Louro, Iuri Drumond

    2013-08-01

    The close relationship between aflatoxins and 249ser TP53 gene mutation (AGG to AGT, Arg to Ser) in hepatocellular carcinoma (HCC) makes this mutation an indirect indicator of dietary contamination with this toxin. We have examined the prevalence of codon 249 TP53 mutation in 41 HCC and 74 liver cirrhosis (without HCC) cases diagnosed at the HUCAM University Hospital in Vitoria, Espírito Santo State, Brazil. DNA was extracted from paraffin sections and from plasma. The mutation was detected by DNA amplification, followed by restriction endonuclease digestion and confirmed by direct sequencing. DNA restriction showed 249ser mutation in 16 HCC and 13 liver cirrhosis, but sequencing confirmed mutations in only 6 HCC and 1 liver cirrhosis. In addition, sequencing revealed 4 patients with mutations at codon 250 (250ser and 250leu) in HCC cases. The prevalence of TP53 mutation was 10/41 (24.3%) in HCC and 1/74 (1.4%) in liver cirrhosis. No relationship between the presence of mutations and the etiology of HCC was observed. TP53 exon 7 mutations, which are related to aflatoxins exposure, were found at 14.6% (249ser), 7.3% (250leu) and 2.4% (250ser) in 41 cases of HCC and 1.4% in 74 liver cirrhosis (without HCC) cases, suggesting a moderate dietary exposure to aflatoxins in the Espírito Santo State, Brazil.

  6. Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

    Directory of Open Access Journals (Sweden)

    Ruben Attali

    Full Text Available We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscle weakness. Absence of cores was noted in all patients. Genome wide linkage analysis revealed a single locus on chromosome 19q13 with Zmax = 3.86 at θ = 0.0 and homozygosity of the polymorphic markers at this locus in patients. Direct sequencing of the main candidate gene within the candidate region, RYR1, was performed. A novel homozygous A to G nucleotide substitution (p.Y3016C within exon 60 of the RYR1 gene was found in patients. ARMS PCR was used to screen for the mutation in all available family members and in an additional 150 healthy individuals. This procedure confirmed sequence analysis and did not reveal the A to G mutation (p.Y3016C in 300 chromosomes from healthy individuals. Functional analysis on EBV immortalized cell lines showed no effect of the mutation on RyR1 pharmacological activation or the content of intracellular Ca(2+ stores. Western blot analysis demonstrated a significant reduction of the RyR1 protein in the patient's muscle concomitant with a reduction of the DHPRα1.1 protein. This novel mutation resulting in RyR1 protein decrease causes heterogeneous clinical presentation, including slow progression course and absence of centrally localized cores on muscle biopsy. We suggest that RYR1 related myopathy should be considered in a wide variety of clinical and pathological presentation in childhood myopathies.

  7. Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Kohn, B.; Patel, S.V.; Pelczar, J.V. [North Shore Univ. Hospital, Manhasset, NY (United States)] [and others

    1995-07-03

    Patients with salt-wasting congenital adrenal hyperplasia (SW-CAH) most commonly carry an A-G transition at nucleotide 656 (nt 656 A{r_arrow}G), causing abnormal splicing of exons 2 and 3 in CYP21, the gene encoding active steroid 21-hydroxylase. Affected infants are severely deficient in cortisol and aldosterone, and usually come to medical attention during the neonatal period. We report on 2 affected boys, homozygous for the nt 656 mutation, who thrived in early infancy, but suffered salt-wasting crises unusually late in infancy, at 3.5 and 5.5 months, respectively. Laboratory studies at presentation showed hyponatremia, hyperkalemia, dehydration, and acidosis; serum aldosterone was low in spite of markedly elevated plasma renin activity. Basal 17-hydroxyprogesterone levels were only moderately elevated, yet the stimulated levels were more typical of severe, classic CAH due to 21-hydroxylase deficiency. Genomic DNA from the patients was analyzed. Southern blot showed no major deletions or rearrangements. CYP21-specific amplification by polymerase chain reaction, coupled with allele-specific hybridization using wild-type and mutant probes at each of 9 sites for recognized disease-causing mutations, revealed a single, homozygous mutation in each patient: nt 656 A{r_arrow}G. These results were confirmed by sequence analysis. We conclude that the common nt 656 A{r_arrow}G mutation is sometimes associated with delayed phenotypic expression of SW-CAH. We speculate that variable splicing of the mutant CYP21 may modify the clinical manifestation of this disease. 22 refs., 1 fig., 1 tab.

  8. The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.

    Science.gov (United States)

    Schayek, Hagit; De Marco, Luiz; Starinsky-Elbaz, Sigal; Rossette, Mariana; Laitman, Yael; Bastos-Rodrigues, Luciana; da Silva Filho, Agnaldo Lopes; Friedman, Eitan

    2016-01-01

    In Brazil, several recurring mutations in BRCA1 and BRCA2 and a TP53 mutation (R337H) have been reported in high risk breast cancer cases. We hypothesized that these recurring mutations may also be detected in the general population and ovarian cancer cases in the state of Minas Gerais. To test this notion, participants were recruited from the outpatient and the Gynecological clinic in the UFMG Medical Center in Belo Horizonte, Minas Gerais, Brazil. BRCA1 (c.68_69delAG, c.5266dupC, c.181T>G, c.4034delA, c.5123C>A), BRCA2 (c.5946delT, c.8537_8538delAG, 4936_4939delGAAA), the c.156_157insAlu* BRCA2 and the c.1010G>A *TP53 mutation were genotyped using validated techniques. Overall, 513 cancer free participants (273 men) (mean age 47.7 ± 15.1 years) and 103 ovarian cancer cases (mean age at diagnosis 58.7 ± 9.6 years) were studied. None of the participants were found to carry any of the genotyped mutations. We conclude that the recurring mutations in BRCA1, BRCA2 and TP53 cannot be detected in the general population or consecutive ovarian cancer cases in this geographical region in Brazil.

  9. Diabetes Is Associated with Worse Clinical Presentation in Tuberculosis Patients from Brazil: A Retrospective Cohort Study

    Science.gov (United States)

    Hickson, Lucas S.; Daltro, Carla; Castro, Simone; Kornfeld, Hardy; Netto, Eduardo M.; Andrade, Bruno B.

    2016-01-01

    Background The rising prevalence of diabetes mellitus (DM) worldwide, especially in developing countries, and the persistence of tuberculosis (TB) as a major public health issue in these same regions, emphasize the importance of investigating this association. Here, we compared the clinical profile and disease outcomes of TB patients with or without coincident DM in a TB reference center in Brazil. Methods We performed a retrospective analysis of a TB patient cohort (treatment naïve) of 408 individuals recruited at a TB primary care center in Brazil between 2004 and 2010. Data on diagnosis of TB and DM were used to define the groups. The study groups were compared with regard to TB disease presentation at diagnosis as well as to clinical outcomes such as cure and mortality rates upon anti-tuberculosis therapy (ATT) initiation. A composite score utilizing clinical, radiological and microbiological parameters was used to compare TB severity between the groups. Results DM patients were older than non-diabetic TB patients. In addition, diabetic individuals more frequently presented with cough, night sweats, hemoptysis and malaise than those without DM. The overall pattern of lung lesions assessed by chest radiographic examination was similar between the groups. Compared to non-diabetic patients, those with TB-diabetes exhibited positive acid-fast bacilli in sputum samples more frequently at diagnosis and at 30 days after ATT initiation. Notably, higher values of the TB severity score were significantly associated with TB-diabetes comorbidity after adjustment for confounding factors. Moreover, during ATT, diabetic patients required more frequent transfers to TB reference hospitals for complex clinical management. Nevertheless, overall mortality and cure rates were indistinguishable between the study groups. Conclusions These findings reinforce the idea that diabetes negatively impacts pulmonary TB severity. Our study argues for the systematic screening for DM in TB

  10. Diabetes Is Associated with Worse Clinical Presentation in Tuberculosis Patients from Brazil: A Retrospective Cohort Study.

    Directory of Open Access Journals (Sweden)

    Leonardo Gil-Santana

    Full Text Available The rising prevalence of diabetes mellitus (DM worldwide, especially in developing countries, and the persistence of tuberculosis (TB as a major public health issue in these same regions, emphasize the importance of investigating this association. Here, we compared the clinical profile and disease outcomes of TB patients with or without coincident DM in a TB reference center in Brazil.We performed a retrospective analysis of a TB patient cohort (treatment naïve of 408 individuals recruited at a TB primary care center in Brazil between 2004 and 2010. Data on diagnosis of TB and DM were used to define the groups. The study groups were compared with regard to TB disease presentation at diagnosis as well as to clinical outcomes such as cure and mortality rates upon anti-tuberculosis therapy (ATT initiation. A composite score utilizing clinical, radiological and microbiological parameters was used to compare TB severity between the groups.DM patients were older than non-diabetic TB patients. In addition, diabetic individuals more frequently presented with cough, night sweats, hemoptysis and malaise than those without DM. The overall pattern of lung lesions assessed by chest radiographic examination was similar between the groups. Compared to non-diabetic patients, those with TB-diabetes exhibited positive acid-fast bacilli in sputum samples more frequently at diagnosis and at 30 days after ATT initiation. Notably, higher values of the TB severity score were significantly associated with TB-diabetes comorbidity after adjustment for confounding factors. Moreover, during ATT, diabetic patients required more frequent transfers to TB reference hospitals for complex clinical management. Nevertheless, overall mortality and cure rates were indistinguishable between the study groups.These findings reinforce the idea that diabetes negatively impacts pulmonary TB severity. Our study argues for the systematic screening for DM in TB reference centers in endemic

  11. Brazil.

    Science.gov (United States)

    1985-09-01

    Brazil's population in 1985 was 135 million, with an annual growth rate (1982) of 2.3%. The infant mortality rate (1981) was 92/1000, and life expectancy stood at 62.8 years. 76% of the adult population was literate. Brazil is a federal republic which recognizes 5 political parties. 55% of the population is Portuguese, Italian, German, Japanese, African, or American Indian; 38% is white. Of the work force of 50 million, 35% are engaged in agriculture, 25% work in industry, and 40% are employed in services. Trade union membership totals 6 million. The agricultural sector accounts for 12% of the GDP and 40% of exports. Brazil is largely self-sufficient in terms of food. The GDP was US$218 billion in 1984, with an annual growth rate of 4%. Per capita GDP was US$1645. Brazil's power, transportation, and communications systems have improved greatly in recent years, providing a base for economic development. High inflation rates have been a persistent problem.

  12. Availability of metals and radionuclides present in phosphogypsum and phosphate fertilizers used in Brazil

    International Nuclear Information System (INIS)

    Phosphogypsum (PG) is a by-product of the phosphate fertilizer industry. In Brazil, three main phosphate industries are responsible for the production of 5.5 x 106 metric tons of PG per year, which is stored in stacks. Part of this by-product can be reused to improve fertility of agricultural soils. For its safe application, it is necessary to characterize the impurities (metals and radionuclides) present in PG and to evaluate their availability to the environment. The main objectives of this paper are: to determine the total concentration of radionuclides (226Ra, 228Ra and 210Pb) and metals (As, Cd, Cr, Co, Cu, Hg, Ni, Pb, Se, Zn) in the Brazilian PG samples using different methodologies, to evaluate the available fraction of these elements in the PG samples using a methodology with mild leaching with EDTA, to compare the results obtained for PG samples with those obtained for the most used phosphate fertilizers. The total concentration obtained for the metals using methodologies with different initial digestion (strong attack with acids and HF and mild attack with nitric acid) are slightly different. The results obtained using the methodology with mild leaching showed that the metals and radionuclides are not available to the environment, giving evidence that the application of PG in agriculture is safe as far as contamination by such elements. PG presented metals concentration lower than the phosphate fertilizers. The results obtained for the PG samples, for As, Cd, Cr, Hg, Ni, Pb and Se, are below the limits established by the Brazilian Regulatory Agency. (author)

  13. A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia

    Energy Technology Data Exchange (ETDEWEB)

    Stoilov, I.; Kilpatrick, M.W.; Tsipouras, P. [Univ. of Connecticut Health Center, Farmington, CT (United States)

    1995-01-02

    Achondroplasia is the most common type of genetic dwarfism. It is characterized by disproportionate short stature and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. Recent studies mapped the achondroplasia gene on chromosome region 4p16.3 and identified a common mutation in the gene encoding the fibroblast growth factor receptor 3 (FGFR3). In an analysis of 19 achondroplasia families from a variety of ethnic backgrounds we confirmed the presence of the G380R mutation in 21 of 23 achondroplasia chromosomes studied. In contrast, the G380R mutation was not found in any of the 8 hypochondroplasia chromosomes studied. Futhermore, linkage studies in a 3-generation family with hypochondroplasia show discordant segregation with markers in the 4p16.3 region suggesting that at least some cases of hypochondroplasia are caused by mutations in a gene other than FGFR3. 27 refs., 2 figs.

  14. Alphavirus mutator variants present host-specific defects and attenuation in mammalian and insect models.

    Directory of Open Access Journals (Sweden)

    Kathryn Rozen-Gagnon

    2014-01-01

    Full Text Available Arboviruses cycle through both vertebrates and invertebrates, which requires them to adapt to disparate hosts while maintaining genetic integrity during genome replication. To study the genetic mechanisms and determinants of these processes, we use chikungunya virus (CHIKV, a re-emerging human pathogen transmitted by the Aedes mosquito. We previously isolated a high fidelity (or antimutator polymerase variant, C483Y, which had decreased fitness in both mammalian and mosquito hosts, suggesting this residue may be a key molecular determinant. To further investigate effects of position 483 on RNA-dependent RNA-polymerase (RdRp fidelity, we substituted every amino acid at this position. We isolated novel mutators with decreased replication fidelity and higher mutation frequencies, allowing us to examine the fitness of error-prone arbovirus variants. Although CHIKV mutators displayed no major replication defects in mammalian cell culture, they had reduced specific infectivity and were attenuated in vivo. Unexpectedly, mutator phenotypes were suppressed in mosquito cells and the variants exhibited significant defects in RNA synthesis. Consequently, these replication defects resulted in strong selection for reversion during infection of mosquitoes. Since residue 483 is conserved among alphaviruses, we examined the analogous mutations in Sindbis virus (SINV, which also reduced polymerase fidelity and generated replication defects in mosquito cells. However, replication defects were mosquito cell-specific and were not observed in Drosophila S2 cells, allowing us to evaluate the potential attenuation of mutators in insect models where pressure for reversion was absent. Indeed, the SINV mutator variant was attenuated in fruit flies. These findings confirm that residue 483 is a determinant regulating alphavirus polymerase fidelity and demonstrate proof of principle that arboviruses can be attenuated in mammalian and insect hosts by reducing fidelity.

  15. Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2

    DEFF Research Database (Denmark)

    Meeths, Marie; Entesarian, Miriam; Al-Herz, Waleed;

    2010-01-01

    patients with mutations in STXBP2 encoding Munc18-2, recently associated with familial HLH type 5. The disease severity among 11 persons studied here was highly variable and, accordingly, age at diagnosis ranged from 2 months to 17 years. Remarkably, in addition to typical manifestations of familial HLH......-associated functional defects. In conclusion, familial HLH type 5 is associated with a spectrum of clinical symptoms, which may be a reflection of impaired expression and function of Munc18-2 also in cells other than cytotoxic lymphocytes. Mutations in STXBP2 should thus also be considered in patients with clinical...

  16. MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome

    NARCIS (Netherlands)

    Golachowska, Magdalena R.; van Dael, Carin M. L.; Keuning, Hilda; Karrenbeld, Arend; Hoekstra, Dick; Gijsbers, Carolien F. M.; Benninga, Marc A.; Rings, Edmond H. H. M.; van IJzendoorn, Sven C. D.

    2012-01-01

    Background and Objective: Microvillus inclusion disease (MVID) is a rare congenital enteropathy associated with brush border atrophy and reduced expression of enzymes at the enterocytes' apical surface. MVID is associated with mutations in the MYO5B gene, which is expressed in all epithelial tissues

  17. Transmissões presentes em tratores agrícolas no Brasil Transmissions present in agricultural tractors in Brazil

    Directory of Open Access Journals (Sweden)

    Rodrigo Lampert Ribas

    2010-10-01

    Full Text Available O sistema de transmissão de um trator agrícola tem por principal finalidade transmitir a potência gerada no motor ao sistema hidráulico, à tomada de potência e às rodas motrizes. A caixa de câmbio é formada por uma série de engrenagens que permitem a correta seleção da velocidade e do torque mais adequados a uma determinada operação. Assim, as transmissões podem ser classificadas, basicamente, em três categorias: mecânicas, hidrostáticas e hidrodinâmicas, sendo as transmissões mecânicas subdivididas em engrenagens deslizantes e sincronizadas. Este trabalho objetivou analisar os diferentes tipos de transmissões disponibilizados em 169 modelos de tratores fabricados no Brasil, com a finalidade de avaliar a real distribuição nas diferentes faixas de potência e estabelecer possíveis relações entre esses parâmetros. Como resultado, evidencia-se uma forte tendência de tratores agrícolas com potência menor que 111,8kW possuírem transmissão do tipo mecânica, e tratores acima de 111,8kW, do tipo hidrostática.The transmission system of an agricultural tractor has a main purpose to transmit the power generated in the hydraulic motor, the power take off and the drive wheels. The gearshift consists of a series of gears that allows the correct selection of speed and torque more appropriate to a particular operation. Then, the transmissions can be classified, basically, in three categories: mechanical, hydrostatic and hydrodynamic, being the mechanical transmissions subdivided in sliding gear and synchronized. Then, the objective of this research was to analyze the different types of transmissions available in 169 models of tractors made in Brazil in order to evaluate the real distribution of them in different power ranges and establish possible correlations. As a result, it was shown a strong tendency for agricultural tractors with power less than 111.8kW possessing mechanical transmission and tractors above 111.8k

  18. HIV-1 Drug Resistance Mutations Are Present in Six Percent of Persons Initiating Antiretroviral Therapy in Lusaka, Zambia

    NARCIS (Netherlands)

    R.L. Hamers; M. Siwale; C.L. Wallis; M. Labib; R. van Hasselt; W.S. Stevens; R. Schuurman; A.M.J. Wensing; M. van Vugt; T.F. Rinke de Wit

    2010-01-01

    Objective: To assess the mutational patterns and factors associated with baseline drug-resistant HIV-1 present at initiation of first-line antiretroviral therapy (ART) at 3 sites in Lusaka, Zambia, in 2007-2008. Methods: Population sequencing of the HIV-1 pol gene was performed in the PharmAccess Af

  19. Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

    OpenAIRE

    Van Rij, Maartje C; Jansen, Fenna A. R.; Hellebrekers, Debby M. E. I.; Onkenhout, W.; Smeets, Hubert J M; Hendrickx, Alexandra T.; Gottschalk, Ralph W. H.; Steggerda, Sylke J; Peeters‐Scholte, Cacha M. P. C. D.; Haak, Monique C.; Hilhorst‐Hofstee, Yvonne

    2016-01-01

    Key Clinical Message Severe recessive mitochondrial myopathy caused by FBXL4 gene mutations may present prenatally with polyhydramnios and cerebellar hypoplasia. Characteristic dysmorphic features are: high and arched eyebrows, triangular face, a slight upslant of palpebral fissures, and a prominent pointed chin. Metabolic investigations invariably show increased serum lactate and pyruvate levels.

  20. Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene.

    Science.gov (United States)

    van Rij, Maartje C; Jansen, Fenna A R; Hellebrekers, Debby M E I; Onkenhout, W; Smeets, Hubert J M; Hendrickx, Alexandra T; Gottschalk, Ralph W H; Steggerda, Sylke J; Peeters-Scholte, Cacha M P C D; Haak, Monique C; Hilhorst-Hofstee, Yvonne

    2016-04-01

    Severe recessive mitochondrial myopathy caused by FBXL4 gene mutations may present prenatally with polyhydramnios and cerebellar hypoplasia. Characteristic dysmorphic features are: high and arched eyebrows, triangular face, a slight upslant of palpebral fissures, and a prominent pointed chin. Metabolic investigations invariably show increased serum lactate and pyruvate levels. PMID:27099744

  1. Effect of Prior Bilateral Oophorectomy on the Presentation of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers

    Directory of Open Access Journals (Sweden)

    Metcalfe Kelly A

    2005-04-01

    Full Text Available Abstract Purpose To compare the presentation of invasive breast cancer in BRCA1 and BRCA2 mutation carriers with and without prior bilateral oophorectomy. Patients and methods Women with a BRCA1 or BRCA2 mutation with the diagnosis of invasive breast cancer were identified from ten cancer genetics clinics. The medical history, medical treatment records and pathology reports for the breast cancers were reviewed. Information was abstracted from medical charts, including history (and date of oophorectomy, date of breast cancer diagnosis, stage of disease, and pathologic characteristics of the breast cancer. Women with prior bilateral oophorectomy were matched by age, year of diagnosis, and mutation with one or more women who had two intact ovaries at the time of breast cancer diagnosis. Characteristics of the breast tumours were compared between the two groups. Results Women with prior bilateral oophorectomy presented with smaller tumours on average compared to women without prior oophorectomy (mean size 1.50 cm vs. 1.95 cm; p = 0.01. Additionally, although not statistically significant, women with intact ovaries were more likely to have high-grade tumour (70% vs. 54%: p = 0.10 and to have positive lymph nodes (34% vs. 18%; p = 0.11 compared to women with prior bilateral oophorectomy. Conclusions Bilateral oophorectomy prior to breast cancer appears to favourably influence the biological presentation of breast cancer in BRCA1 and BRCA2 mutation carriers.

  2. Post-partum thyroiditis in South Brazil presenting as thyrotoxicosis: prevalence and risk factors.

    Science.gov (United States)

    Furlanetto, T W; Premaor, M O; Caramori, M L; Frantz, B C; Patta, G Z; Tatto, E; Vaz, A G

    2000-09-01

    The prevalence of post-partum thyroiditis (PPT) has been reported in several countries (1.9 to 16.7%) but is not known in Brazil. Several factors have been associated to its development, such as a female sex of the newborn, PPT in a previous pregnancy, a family history of thyroid disease and cigarette smoking. To investigate the prevalence of PPT and its risk factors in a southern Brazilian city, a three-cross-sectional observation study was performed. PPT was diagnosed in 14/284 subjects (5.3%) and all cases had thyrotoxicosis (13 sub-clinical and one clinical). Serum total T4 and free T4 were higher and serum TSH was lower in PPT subjects. Anti-thyroid antibodies were positive in 16.7% of PPT subjects and in 4.5% of those with no thyroid dysfunction. Goiter was identified in 14.3% of PPT subjects and in 15% of no PPT subjects. Thyroid was hardened more frequently in PPT subjects (21.4%) than in others (5.2%). Male sex of the newborn was associated to PPT, increasing 11 times the risk of PPT. Cigarette smoking was associated to PPT in group II subjects. There was no clinical sign or symptom able to contribute to this diagnosis, except the presence of hardened thyroid. Based on these findings, PPT, manifesting itself as mild thyrotoxicosis, is a common problem in southern Brazil and is associated to male sex of the newborn. PMID:11021764

  3. Hemolytic anemia as first presentation of Wilson's disease with uncommon ATP7B mutation.

    Science.gov (United States)

    Ye, Xing-Nong; Mao, Li-Ping; Lou, Yin-Jun; Tong, Hong-Yan

    2015-01-01

    Wilson's disease (WD) is a rare inherited disorder of copper metabolism and the main manifestations are liver and brain disorders. Hemolytic anemia is an unusual complication of WD. We describe a 15-year-old girl who developed hemolytic anemia as the first manifestation of Wilson's disease. An Arg952Lys mutation was found in exon 12 of the ATP7B gene, which is uncommon among Chinese Han individuals. From this case and reviews, we can achieve a better understanding of WD. Besides, we may conclude that the probable diagnosis of WD should be considered in young patients with unexplained hemolytic anemia, especially in patients with hepatic and/or neurologic disorder.

  4. A Novel Mutation in the Von Hippel-Lindau Tumor Suppressor Gene Identified in a Patient Presenting with Gestational Diabetes Mellitus

    OpenAIRE

    Ku, Yun Hyi; Ahn, Chang Ho; Jung, Chan-Hyeon; Lee, Jie Eun; Kim, Lee-Kyung; Kwak, Soo Heon; Jung, Hye Seung; Park, Kyong Soo; Cho, Young Min

    2013-01-01

    Background Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited, multisystemic tumor syndrome caused by mutations in the VHL gene. To date, more than 1,000 germline and somatic mutations of the VHL gene have been reported. We present a novel mutation in the VHL tumor suppressor gene that presented with gestational diabetes mellitus. Methods A 30-year-old woman presented with gestational diabetes mellitus. She sequentially showed multiple pancreatic cysts, spinal cord hemangiob...

  5. Injuries caused by aquatic animals in Brazil: an analysis of the data present in the information system for notifiable diseases

    OpenAIRE

    Guilherme Carneiro Reckziegel; Flávio Santos Dourado; Domingos Garrone Neto; Vidal Haddad Junior

    2015-01-01

    AbstractINTRODUCTION:We present a review of injuries in humans caused by aquatic animals in Brazil using the Information System for Notifiable Diseases [ Sistema de Informação de Agravos de Notificação (SINAN)] database.METHODS:A descriptive and retrospective epidemiological study was conducted from 2007 to 2013.RESULTS:A total of 4,118 accidents were recorded. Of these accidents, 88.7% (3,651) were caused by venomous species, and 11.3% (467) were caused by poisonous, traumatic or unidentifie...

  6. Present international patterns of foreign direct investment: underlying causes and some policy implications for Brazil

    Directory of Open Access Journals (Sweden)

    François Chesnais

    2013-12-01

    Full Text Available An important feature of the 1980s has been the substantial fall in the flow of foreign direct investment (FDI to the developing countries and also, with the limited exception of the Asian NIE (Korea, Taiwan, Malaysia, Singapore and China, to the newly industrialized countries, in particular those in Latin America. FDI has been concentrated more than ever among the advanced industrialized countries of OECD. The same period has witnessed a number of extremely important changes, both in the nature and location of basic or key technologies, the role of technology in industrial competitiveness; the most appropriate industrial management paradigm following the difficulties of the "Fordist" one; the nature of predominant international supply or market structures; and the relationships between productive and financial capital. Today a number of governments in developing countries and in NIC, among them the new government of Brazil, are again engaged in an attempt to attract FDI and to make foreign capital one of the major pillars of industrial revival and future growth. This paper argues that this policy objective is both fairly illusory and largely mistaken. It is fairly illusory in that it seriously underestimates the nature and strength of the structural factors which have been at work since the mid-1970s and seriously modified the strategies and investment priorities of the TNC which under took the brunt of the investment in developing countries and NICs in the earlier "golden age" of the 1960s and 1970s . The objective of luring foreign capital again to Brazil in ways and on a level similar to the 1960s is also largely mistaken in that it fails to recognize that the change in technological paradigms has modified the parameters of international technology transfers (cf. Ernst and O'Connor, 1989 and made indigenous and endogenous industrial growth dependent to a much higher degree than in the previous period (19601975 on factors which foreign capital

  7. Telemental health in Brazil: past, present and integration into primary care

    Directory of Open Access Journals (Sweden)

    Rodrigo Da Silva Dias

    2015-04-01

    Full Text Available Background Telemental Health Care has reported very good results and is included within mental health priorities by the World Health Organization. Objective To provide an overview of the current situation of the integration of Brazilian telemedicine activities into primary health care. Methods Critical review based on MEDLINE database, using the keywords “telemedicine”, “primary health care” “mental health” and “telemental health”, on websites of the Brazilian Ministry of Health and Brazilian Telehealth Network Program, and on personal communication. Results The Brazilian Telehealth Network Program is well positioned and connects primary health care with academic centers. Regulations standards allow a broader scope of activities for psychologists, however, are more restrictive for physicians. In Brazil most of telemental health activities are focused on education and second opinion consulting. A huge challenge must be overcome considering the regional differences and the telehealth implementation experience. Research initiatives have been initiated both in the implementation and evaluation of the mental health assistance into primary health care. Discussion Brazilian Telemental Health initiatives into Primary Care are aligned with other examples around the world, have a great potential for improving mental health care service delivery, and access to proper mental health care, especially if articulated in a national program and coordinated research.

  8. Linalool and methyl chavicol present basil (Ocimum sp. cultivated in Brazil Linalol e metil-chavicol presentes em manjericão (Ocimum sp. cultivados no Brasil

    Directory of Open Access Journals (Sweden)

    R.A. de Oliveira

    2013-01-01

    Full Text Available In Brazil, Ocimum species are commonly known as aromatic and restorative herbs. The present research aimed to study the chemical composition of the essential oils of fresh and dry basil (Ocimum sp leaves obtained by hydrodistillation and analyzed by GC-FID and GC-MS. The obtained yield was 0.70% for dry leaves and 0.26% for fresh leaves. The major compounds were: linalool (29.50-32.26% and methyl chavicol (36.81-41.62%. Eucalyptol could also be detected (9.99-7.68%. The oil from dry leaves presented a more complex chemical composition. This study serves to contribute to the knowledge of medicinal plants occurring in Brazil.No Brasil, as espécies de Ocimum são conhecidas como ervas aromáticas e restaurativas. Nesse trabalho foi estudado a composição química dos óleos essenciais das folhas frescas e secas de manjericão (Ocimum sp obtido por hidrodestilação e analisados por CG-FID e CG-EM. Os teores encontrados foram de 0,70% para as folhas secas e 0,26% para as folhas frescas. Os componentes majoritários foram: Linalol (29,50-32,26% e metil-chavicol (36,81-41,62%. Eucaliptol também foi detectado (9,99-7,68%. O óleo das folhas secas apresentou composição química mais complexa. Esse trabalho contribui para o conhecimento das plantas medicinais de ocorrência no Brasil.

  9. Genetic data and de novo mutation rates in father-son pairs of 23 Y-STR loci in Southern Brazil population.

    Science.gov (United States)

    Da Fré, Nicole Nascimento; Rodenbusch, Rodrigo; Gastaldo, André Zoratto; Hanson, Erin; Ballantyne, Jack; Alho, Clarice Sampaio

    2015-11-01

    We evaluated haplotype and allele frequencies, as well as statistical forensic parameters, for 23 Y-chromosome short tandem repeats (STRs) loci of the PowerPlex®Y23 system (DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, Y-GATA-H4, DYS481, DYS533, DYS549, DYS570, DYS576, DYS643) in a sample of 150 apparently healthy males, resident in South Brazil. A total of 150 different haplotypes were identified. The highest gene diversity (GD) was observed for the single locus marker DYS570 (GD = 0.7888) and for a two-locus system DYS385 (GD = 0.9009). We also examined 150 father-son pairs by the same system, and a total of 13 mutations were identified in the 3450 father-son allelic transfers, with an overall mutation rate across the 23 loci of 3.768 × 10(-3) (95% CI: 3.542 × 10(-3) to 3.944 × 10(-3)). In all cases there was only one locus mutated with gain/loss of repeats in the son (5 one-repeat gains, and 7 one-repeat and 1 two-repeat losses); we observed no instances of mutations involving a non-integral number of repeats.

  10. Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease.

    Science.gov (United States)

    Pedroso, José Luiz; Rocha, Clarissa R R; Macedo-Souza, Lucia I; De Mario, Vitor; Marques, Wilson; Barsottini, Orlando G P; Bulle Oliveira, Acary S; Menck, Carlos F M; Kok, Fernando

    2015-12-01

    PNKP (polynucleotide kinase 3'-phosphatase, OMIM #605610) product is involved in the repair of strand breaks and base damage in the DNA molecule mainly caused by radical oxygen species. Deleterious variants affecting this gene have been previously associated with microcephaly, epilepsy, and developmental delay.(1) According to a previous report, homozygous loss-of-function substitution in PNKP was associated with cerebellar atrophy, neuropathy, microcephaly, epilepsy, and intellectual disability.(2) Recently, whole-exome sequencing (WES) performed in a cohort of Portuguese families with ataxia with oculomotor apraxia (AOA) disclosed pathogenic variants in PNKP in 11 individuals. Other clinical features in that study included neuropathy, dystonia, cognitive impairment, decreased vibration sense, pyramidal signs, mild elevation in α-fetoprotein, and low levels of albumin. This condition was named AOA type 4 (OMIM #616267), as the phenotype of AOA has been previously associated with 3 other genes: APTX, SETX, and PIK3R5.(3) Altogether, these reports demonstrate the great phenotypic diversity associated with PNKP mutations. In this article, we further enlarge this variability by demonstrating that early-onset axonal sensory-motor neuropathy (or axonal Charcot-Marie-Tooth (CMT) disease) followed years later by ataxia without oculomotor apraxia can be caused by deleterious variants in PNKP. Full consent was obtained from the patient and his parents for this publication. This study was approved by institutional ethics committees. PMID:27066567

  11. Oseltamivir-resistant influenza A(H1N1pdm2009 strains found in Brazil are endowed with permissive mutations, which compensate the loss of fitness imposed by antiviral resistance

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    Thiago Moreno Lopes e Souza

    2015-02-01

    Full Text Available The 2009 pandemic influenza A virus outbreak led to the systematic use of the neuraminidase (NA inhibitor oseltamivir (OST. Consequently, OST-resistant strains, carrying the mutation H275Y, emerged in the years after the pandemics, with a prevalence of 1-2%. Currently, OST-resistant strains have been found in community settings, in untreated individuals. To spread in community settings, H275Y mutants must contain additional mutations, collectively called permissive mutations. We display the permissive mutations in NA of OST-resistant A(H1N1pdm09 virus found in Brazilian community settings. The NAs from 2013 are phylogenetically distinct from those of 2012, indicating a tendency of positive selection of NAs with better fitness. Some previously predicted permissive mutations, such as V241I and N369K, found in different countries, were also detected in Brazil. Importantly, the change D344N, also predicted to compensate loss of fitness imposed by H275Y mutation, was found in Brazil, but not in other countries in 2013. Our results reinforce the notion that OST-resistant A(H1N1pdm09 strains with compensatory mutations may arise in an independent fashion, with samples being identified in different states of Brazil and in different countries. Systematic circulation of these viral strains may jeopardise the use of the first line of anti-influenza drugs in the future.

  12. The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia.

    Science.gov (United States)

    Leng, Yinglin; Liu, Yuhe; Fang, Xiaojing; Li, Yao; Yu, Lei; Yuan, Yun; Wang, Zhaoxia

    2015-04-01

    Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes/Leigh (MELAS/LS) overlap syndrome is a mitochondrial disorder subtype with clinical and magnetic resonance imaging (MRI) features that are characteristic of both MELAS and Leigh syndrome (LS). Here, we report an MELAS/LS case presenting with cortical deafness and seizures. Cranial MRI revealed multiple lesions involving bilateral temporal lobes, the basal ganglia and the brainstem, which conformed to neuroimaging features of both MELAS and LS. Whole mitochondrial DNA (mtDNA) sequencing and PCR-RFLP revealed a de novo heteroplasmic m.10197 G > A mutation in the NADH dehydrogenase subunit 3 gene (ND3), which was predicted to cause an alanine to threonine substitution at amino acid 47. Although the mtDNA m.10197 G > A mutation has been reported in association with LS, Leber hereditary optic neuropathy and dystonia, it has never been linked with MELAS/LS overlap syndrome. Our patient therefore expands the phenotypic spectrum of the mtDNA m.10197 G > A mutation.

  13. Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.

    Science.gov (United States)

    Luan, Xinghua; Huang, Xiaojun; Liu, Xiaoli; Zhou, Haiyan; Chen, Shengdi; Cao, Li

    2016-08-01

    Spinal muscular atrophy with respiratory distress type 1 (SMARD1), also known as distal spinal muscular atrophy 1 (DSMA1) or distal hereditary motor neuropathies type 6 (dHMN6), is a rare autosomal recessive motor neuron disorder that affects infants and is characterized by diaphragmatic palsy, distal muscular weakness and muscle atrophy. The disease is caused by mutations in the gene encoding immunoglobulinm-binding protein 2 (IGHMBP2). We present a female child with novel compound heterozygous mutations in IGHMBP2 gene c.344C>T (p.115T>M) and c.1737C>A (p.579F>L), displaying distal limbs weakness and atrophy without signs of diaphragmatic palsy or respiratory insufficiency. We review 20 reported SMARD1 cases that have no respiratory involvement or have late onsets. We propose that IGHMBP2 gene mutations are characterized by significant phenotypic heterogeneity. Diaphragmatic palsy and respiratory distress may be absent and SMARD1 should be considered in infantile with the onset of peripheral neuropathies. PMID:26922252

  14. Presentation

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    Nicanor Lopes

    2010-11-01

    Full Text Available The Journal Caminhando debuts with a new editorial format: eachmagazine will have a Dossier.In 2010 Christianity celebrated the centenary of Edinburgh. TheWorld Missionary Conference in Edinburgh in 1910 is regarded by manyas missiological watershed in the missionary and ecumenical movement.So the Faculty of Theology of the Methodist Church (FATEO decidedto organize a Wesleyan Week discussing the issue of mission. For anevent of this magnitude FATEO invited the Rev. Dr. Wesley Ariarajah,Methodist pastor and teacher of Sri Lanka with extensive experience inpastoral ministry in local churches and professor of History of Religionsand the New Testament at the Theological College of Lanka, maintainedby the Protestant Churches in Sri Lanka. In 1981 he was invited to jointhe World Council of Churches, where he presided for over ten years theCouncil of Interreligious Dialogue. From 1992 he served as Deputy GeneralSecretary of the WCC.The following texts are not the speeches of the Rev. Dr. WesleyAriarajah, for they will be published separately. Nevertheless, the journaldialogs with the celebrations of the centenary of Edinburgh, parting formthe intriguing theme: "Mission in the 21st century in Brazil". After all, howis it that mission takes place among us in personal, church, and communityactivities?Within the Dossier, as common to the journal, the textos are organizedas follows: Bible, Theology / History and Pastoral Care. Other items thatdo not fit within the Dossier, but, do articulate mission, can be found inthe section Declarations and Documents and Book Reviews.The authors of the Dossier have important considerations in buildinga contemporary missiological concept considering Brazilian reality.Anderson de Oliveira, in the Bible-Section, presents a significantexegeses of Matthew 26.6-13. What does it mean when Jesus is quotedwith the words: "For the poor always ye have with you, but me ye havenot always." Is this declaration challenging the gospels

  15. The epidermal growth factor receptor (EGFR / HER-1 gatekeeper mutation T790M is present in European patients with early breast cancer.

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    Vahid Bemanian

    Full Text Available The epidermal growth factor receptor (EGFR is one of the major oncogenes identified in a variety of human malignancies including breast cancer (BC. EGFR-mutations have been studied in lung cancer for some years and are established as important markers in guiding therapy with tyrosine kinase inhibitors (TKIs. In contrast, EGFR-mutations have been reported to be rare if not absent in human BC, although recent evidence has suggested a significant worldwide variation in somatic EGFR-mutations. Therefore, we investigated the presence of EGFR-mutations in 131 norwegian patients diagnosed with early breast cancer using real-time PCR methods. In the present study we identified three patients with an EGFR-T790M-mutation. The PCR-findings were confirmed by direct Sanger sequencing. Two patients had triple-negative BC (TNBC while the third was classified as luminal-A subtype. The difference in incidence of T790M mutations comparing the TNBC subgroup with the other BC subgroups was statistical significant (P = 0.023. No other EGFR mutations were identified in the entire cohort. Interestingly, none of the patients had received any previous cancer treatment. To our best knowledge, the EGFR-T790M-TKI-resistance mutation has not been previously detected in breast cancer patients. Our findings contrast with the observations made in lung cancer patients where the EGFR-T790M-mutation is classified as a typical "second mutation"causing resistance to TKI-therapy during ongoing anticancer therapy. In conclusion, we have demonstrated for the first time that the EGFR-T790M-mutation occurs in primary human breast cancer patients. In the present study the EGFR-T790M mutation was not accompanied by any simultaneous EGFR-activating mutation.

  16. Immunodeficiency, Centromeric instability, Facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst

    Science.gov (United States)

    Cerbone, Manuela; Wang, Jun; Van der Maarel, Silvère M.; d’Amico, Alessandra; d’Agostino, Antonio; Romano, Alfonso; Brunetti-Pierri, Nicola

    2012-01-01

    The Immunodeficiency, Centromeric instability, Facial anomalies (ICF) syndrome is an autosomal recessive disease presenting with immunodeficiency secondary to hypo- or agammaglobulinemia, developmental delay, and facial anomalies. Centromeric instability is the cytogenetic hallmark of the disorder which results from targeted chromosomal rearrangements related to a genomic methylation defect. We describe a patient carrying a homozygous mutation of the ZBTB24 gene, which has been recently shown to be responsible for ICF syndrome type 2. Our patient presented with intellectual disability, multiple café-au-lait spots, and a large cerebral arachnoidal cyst. Although laboratory signs of impaired immune function, such as reduced serum IgM were detected, our patient did not present clinical manifestations of immunodeficiency. Brain malformations have not been reported so far in ICF syndrome and it can be speculated that ZBTB24 mutations may alter cerebral development. Nevertheless, we cannot rule out that the presence of the cerebral cyst in the patient is coincidental. In summary, our patient illustrates that clinical evidence of immunodeficiency is not a universal feature of ICF2 syndrome type 2 and suggests that brain malformations may be present in other ICF cases. PMID:22786748

  17. Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study

    Science.gov (United States)

    Mattos, Beatriz Piva e; Scolari, Fernando Luís; Torres, Marco Antonio Rodrigues; Simon, Laura; de Freitas, Valéria Centeno; Giugliani, Roberto; Matte, Úrsula

    2016-01-01

    Background: Mutations in sarcomeric genes are found in 60-70% of individuals with familial forms of hypertrophic cardiomyopathy (HCM). However, this estimate refers to northern hemisphere populations. The molecular-genetic profile of HCM has been subject of few investigations in Brazil, particularly in the south of the country. Objective: To investigate mutations in the sarcomeric genes MYH7, MYBPC3 and TNNT2 in a cohort of HCM patients living in the extreme south of Brazil, and to evaluate genotype-phenotype associations. Methods: Direct DNA sequencing of all encoding regions of three sarcomeric genes was conducted in 43 consecutive individuals of ten unrelated families. Results: Mutations for CMH have been found in 25 (58%) patients of seven (70%) of the ten study families. Fourteen (56%) individuals were phenotype-positive. All mutations were missense, four (66%) in MYH7 and two (33%) in MYBPC3. We have not found mutations in the TNNT2 gene. Mutations in MYH7 were identified in 20 (47%) patients of six (60%) families. Two of them had not been previously described. Mutations in MYBPC3 were found in seven (16%) members of two (20%) families. Two (5%) patients showed double heterozygosis for both genes. The mutations affected different domains of encoded proteins and led to variable phenotypic expression. A family history of HCM was identified in all genotype-positive individuals. Conclusions: In this first genetic-molecular analysis carried out in the south of Brazil, we found mutations in the sarcomeric genes MYH7 and MYBPC3 in 58% of individuals. MYH7-related disease was identified in the majority of cases with mutation. PMID:27737317

  18. Initial comments on the aero geophysical information present at the B and C areas of the Itatira (Brazil) project

    International Nuclear Information System (INIS)

    The aero geophysical project called Itatira,, accomplished by LASA Engenharia e Prospeccoes S.A., Between September and November/1977 through contract with NUCLEBRAS, corresponds to one of the first project of this gender accomplished in national territory. In this project were flight more than 80 000 km of linear lines, which covered approximately 38 000 km2 on the precambrian terrains of the Ceara State, NE Brazil. For several reasons, the total area of the project was subdivided in three sub-areas (A, B and C), each one covered by a different airship (LAS, 1977). This paper presents the geophysical information and preliminary interpretations of the areas B and C that were obtained through the integrated use of the soft wares AUTOCAD r. 14, OASIS MONTAJ r.4.2 and ERMAPPER r.5.5. (author)

  19. Analysis of factor V Leiden and prothrombin mutations in patients with suspected thrombophilia in São Paulo state-Brazil

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    Marcos Edgar Herkenhoff

    2013-06-01

    Full Text Available INTRODUCTION: Prothrombin (factor II is a thrombin precursor, which induces fibrin formation. A mutation in the prothrombin gene (G20210A has been described, which is directly associated with high prothrombin levels, hence thrombophilia. G1691A mutation in the factor V Leiden (FVL gene occurs on exon 10, one of the main cleavage sites for protein C activation, resulting in protein alteration. OBJECTIVE: To identify and estimate the genotype frequency of the three possible genotypes and the frequency of the two existing alleles in the FVL and prothrombin genes in patients with suspected thrombophilia in the state of Sao Paulo. This study may provide more literature and reference data on the incidence of prothrombin genotypes among individuals in Brazil. MATERIAL AND METHODS: Analysis of point mutation by real time polymerase chain reaction (RT-PCR. RESULTS: We obtained a total of 100 individuals, from which 94% had the homozygous G genotype. Only 6% had heterozygous genotype and there was no individual with the homozygous genotype A for FVL gene. As to the prothrombin gene, the frequency was 97% for homozygous G genotype and 3% for the heterozygous genotype. There was no patient with the homozygous A genotype. CONCLUSION: This study demonstrated that the genotype identification of these genes is advisable for patients with suspected thrombophilia in this region.

  20. Malignant chondroblastoma presenting as a recurrent pelvic tumor with DNA aneuploidy and p53 mutation as supportive evidence of malignancy

    Energy Technology Data Exchange (ETDEWEB)

    Ostrowski, M.L. [Department of Pathology and Laboratory Medicine, Baylor College of Medicine, The Methodist Hospital and Texas Children' s Hospital, Houston, Texas (United States); Department of Pathology and Laboratory Medicine, Houston, TX (United States). Methodist Hospital; Johnson, M.E. [Department of Orthopedic Surgery, Baylor College of Medicine, The Methodist Hospital and Texas Children' s Hospital, Houston, Texas (United States); Truong, L.D.; Hicks, M.J.; Spjut, H.J. [Department of Pathology and Laboratory Medicine, Baylor College of Medicine, The Methodist Hospital and Texas Children' s Hospital, Houston, Texas (United States); Smith, F.E. [Department of Oncology, Baylor College of Medicine, The Methodist Hospital and Texas Children' s Hospital, Houston, Texas (United States)

    1999-11-01

    We report a rare case of malignant chondroblastoma, which presented in a 47-year-old man as a recurrent tumor, 18 years following wide excision of a typical pelvic chondroblastoma. Radiologic studies of the recurrent tumor showed a large, lytic, destructive lesion of the right pelvic bones and femur, with a pathologic fracture of the latter, a large pelvic soft tissue mass, and multiple pulmonary metastases. Biopsy tissue showed typical features of chondroblastoma, but also increased nuclear atypia, hyperchromasia, and pleomorphism, compared to the original tumor, and, most significantly, abnormal mitotic figures. Immunohistochemical studies of the recurrent tumor revealed p53 mutation and extensive proliferative activity, and flow cytometric studies showed DNA aneuploidy, none of which was present in the original tumor. The patient received chemotherapy and radiation, but died of disease eight months after presentation. We also review chondroblastoma in general, to assign this unusual lesion to a tumor subtype. (orig.)

  1. Age and regional differences in clinical presentation and risk of hospitalization for dengue in Brazil, 2000-2014

    Science.gov (United States)

    Burattini, Marcelo N.; Lopez, Luis F.; Coutinho, Francisco A.B.; Siqueira, João B.; Homsani, Sheila; Sarti, Elsa; Massad, Eduardo

    2016-01-01

    OBJECTIVES: Dengue cases range from asymptomatic to severe, eventually leading to hospitalization and death. Timely and appropriate management is critical to reduce morbidity. Since 1980, dengue has spread throughout Brazil, affecting an increasing number of individuals. This paper describes age and regional differences in dengue’s clinical presentation and associated risk of hospitalization based on more than 5 million cases reported to the Brazilian Ministry of Health from 2000-2014. METHODS: We performed a retrospective analysis of ∼5,450,000 dengue cases, relating clinical manifestations and the risk of hospitalization to age, gender, previous infection by dengue, dengue virus serotype, years of formal education, delay to first attendance and the occurrence of dengue during outbreaks and in different Brazilian regions. RESULTS: Complicated forms of dengue occurred more frequently among those younger than 10 years (3.12% vs 1.92%) and those with dengue virus 2 infection (7.65% vs 2.42%), with a delay to first attendance >2 days (3.18% vs 0.82%) and with ≤4 years of formal education (2.02% vs 1.46%). The risk of hospitalization was higher among those aged 6-10 years old (OR 4.57; 95% CI 1.43-29.96) and those who were infected by dengue virus 2 (OR 6.36; 95% CI 2.52-16.06), who lived in the Northeast region (OR 1.38; 95% CI 1.11-2.10) and who delayed first attendance by >5 days (composite OR 3.15; 95% CI 1.33-8.9). CONCLUSIONS: In Brazil, the occurrence of severe dengue and related hospitalization is associated with being younger than 10 years old, being infected by dengue virus 2 or 3, living in the Northeast region (the poorest and the second most populated) and delaying first attendance for more than 2 days.

  2. Genetic data and de novo mutation rates in father-son pairs of 23 Y-STR loci in Southern Brazil population.

    Science.gov (United States)

    Da Fré, Nicole Nascimento; Rodenbusch, Rodrigo; Gastaldo, André Zoratto; Hanson, Erin; Ballantyne, Jack; Alho, Clarice Sampaio

    2015-11-01

    We evaluated haplotype and allele frequencies, as well as statistical forensic parameters, for 23 Y-chromosome short tandem repeats (STRs) loci of the PowerPlex®Y23 system (DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, Y-GATA-H4, DYS481, DYS533, DYS549, DYS570, DYS576, DYS643) in a sample of 150 apparently healthy males, resident in South Brazil. A total of 150 different haplotypes were identified. The highest gene diversity (GD) was observed for the single locus marker DYS570 (GD = 0.7888) and for a two-locus system DYS385 (GD = 0.9009). We also examined 150 father-son pairs by the same system, and a total of 13 mutations were identified in the 3450 father-son allelic transfers, with an overall mutation rate across the 23 loci of 3.768 × 10(-3) (95% CI: 3.542 × 10(-3) to 3.944 × 10(-3)). In all cases there was only one locus mutated with gain/loss of repeats in the son (5 one-repeat gains, and 7 one-repeat and 1 two-repeat losses); we observed no instances of mutations involving a non-integral number of repeats. PMID:25391811

  3. New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease.

    Science.gov (United States)

    Nalini, Atchayaram; Gayathri, Narayanappa; Richard, Pascale; Cobo, Ana-Maria; Urtizberea, J Andoni

    2013-01-01

    In this report, we describe a new mutation located in the coiled 1B domain of desmin and associated with a predominant cardiac involvement and a high degree of cardiac sudden death in a large Indian pedigree with 12 affected members. The index cases was 38-year-old man who presented with progressive difficulty in gripping footwear of 5 years duration with the onset in the left lower limb followed by right lower limb in 6 months. 3 years from onset, he developed lower limb proximal and truncal muscle weakness. There was mild atrophy of the shoulder girdle muscles with grade 3 weakness, moderate wasting of thigh and anterior leg muscles with proximal muscle weakness and foot drop. At 40 years, he had a pacemaker implanted. The 9 exons and intronic boundaries of the desmin gene were sequenced and a heterozygous nucleotide change c. 734A > G in exon 3 was identified. PMID:24441330

  4. GATA1 mutation negative acute megakaryoblastic leukemia with acquired trisomy 21 presenting with extensive bone marrow necrosis in an adult: A case report and review of the literature

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    Todd P. Williams

    2016-03-01

    Conclusions: To our knowledge, this is the first reported case of an adult with AMKL with acquired trisomy 21 in which the GATA1 mutation was investigated and the second reported case of AMKL presenting with extensive bone marrow necrosis. We will present a diagnostic approach to AMKL in which extensive bone marrow necrosis renders examination of the bone marrow difficult. Furthermore, we will examine the absence of the GATA1 mutation in a case of AMKL with trisomy 21 in an adult.

  5. Challenges of the Unified Health System: present status of public laboratory services in 31 cities of Minas Gerais, Brazil

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    Pedro Guatimosim Vidigal

    2014-04-01

    Full Text Available Introduction: Modifications in the Brazilian Unified Health System (SUS have led to a significant improvement in the national health indexes. However, some challenges still need to be faced, especially concerning SUS patients' access to high-quality laboratory support services.Objective: To evaluate the present status of laboratory services in SUS in 31 cities of Minas Gerais, Brazil, between 2008 and 2011.Material and method: This analysis was performed through data from the Information Technology Department of SUS (DATASUS and through interviews with local public health managers with structured questionnaires.Results: Among all the studied cities, 21 had their own laboratory, 90.2% of which were in precarious conditions, not meeting the requirements established by the legislation in force, and employing inappropriate procedures and techniques, in addition to using obsolete equipment. The range of available laboratory tests was limited, what demanded the services of supporting laboratories. None of the evaluated laboratories developed any systematic activity on quality management, including control of analytical quality, maintenance of laboratory equipment, calibration and performance evaluation of critical equipment, continuing education programs, and safety and biosecurity.Conclusion: The effective role of laboratory test results in medical decision is unquestionably impaired, risking the safety of SUS patients. The present work reveals the deficiencies of public laboratory services in Minas Gerais, and proposes a new management model, which is able to associate operational quality, technological development and optimization of human and material resources with higher productivity.

  6. Compostos bioativos presentes em amora-preta (Rubus spp. Bioactive compounds of blackberry fruits (Rubus spp. grown in Brazil

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    Daniela Souza Ferreira

    2010-09-01

    and, or, inhibitors of degenerative disorders; however, data regarding the bioactive compounds in blackberry cultivated in Brazil are rare. Thus, the objectives of the present study were to identify the anthocyanins and carotenoids in blackberry (Rubus spp., to determine the total contents of phenolic compounds, flavonoids, carotenoids, and total, monomeric, polimeric and co-pigmented anthocyanins, and the antioxidant capacity against the free radicals ABTS and DPPH. The total carotenoids level was low (86.5 ± 0.2 µg/100 g, with all-trans-β-carotene (39.6 % and all-trans-lutein (28.2 % as the major ones. The blackberries showed high antioxidant status mainly due to the high level of monomeric anthocyanins (104.1 ± 1.8 mg/100 g de fruta, presence of polimeric anthocyanins (22.9 ± 0.4 %, low percentage of co-pigmented anthocyanins (1.6 ± 0.1 % and high contents of phenolic compounds (241.7 ± 0.8 mg gallic acid equivalent/100 g and total flavonoids (173.7 ± 0.7 mg catechin equivalent/100 g. Cyanidin 3-glucoside was the major anthocyanin (92.9 %. These results indicate that the blackberry cultivated in Brazil can be considered a rich natural source of antioxidants and pigments.

  7. Mutações somáticas na videira Niagara Somatic mutations of the niagara grape in Brazil

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    J. S. Inglez de Sousa

    1959-01-01

    Full Text Available A videira Niagara, de bagas brancas e arredondadas, originou-se de cruzamento em que participaram as espécies Vitis labrusca L. e V. vinifera L. Foi introduzida no Brasil em 1894 e, a partir de 1910, começou a ser largamente difundida pelos vinhedos brasileiros, notadamente nos do Estado de São Paulo, onde é considerada a variedade de maior importância econômica. Existem neste Estado cerca de 27 milhões de pés de Niagara, que produzem anualmente perto de 50 mil toneladas de uvas frescas, representando um valor aproximado de 500 milhões de cruzeiros. A partir de 1933 foram observadas na região de Jundiaí, Estado de São Paulo, al-algumas mutações somáticas da Niagara original. Pela ordem em que tais mutações apareceram, é a seguinte sua relação: 1 BAGA ROSADA ARREDONDADA, em 1933; 2 BAGA BRANCA ARREDONDADA GIGANTE, em 1937; 3 BAGA BRANCA OVAL, em 1938; 4 BAGA ROSADA ARREDONDADA GIGANTE, em 1941; 5 BAGA RAJADA ARREDONDADA, em 1947; 6 FORMA STECK, em 1951: e 7 BAGA ROSADA OVAL ou NIAGRA MARAVILHA, em 1958. Algumas dessas mutações apresentam ponderável importância econômica: é o caso da Niagara Rosada, que constitui atualmente talvez 60 % das videiras plantadas no Estado de São Paulo. Outras, como Niagara Branca Oval, Niagara Branca Gigante, Niagara Rosada Gigante e Niagara Maravilha, terão provàvelmente apreciável difusão entre os viticultures. As formas denominadas Gigantes são mutações auto-tetraplóides da Niagara original. Procurou-se descrever a origem e as características principais de cada uma das variantes de Niagara encontradas, documentando-as por meio de dados ampelométricos, desenhos e fotografias.The Niagara variety of grape originated from a cross between Vitis labrusca L. and V. vinifera L. It has a heterozygous behavior and possess round white berries. Its introduction in Brazil dates back to 1894. Since 1910 it has become a popular variety in Brazilian vineyards and specially in those planted in

  8. Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB.

    Science.gov (United States)

    Wolach, Baruch; Scharf, Yitshak; Gavrieli, Ronit; de Boer, Martin; Roos, Dirk

    2005-01-01

    Most patients with chronic granulomatous disease (CGD) have mutations in the X-linked CYBB gene that encodes gp91phox, a component of the phagocyte NADPH oxidase. The resulting X-linked form of CGD is usually manifested in boys. Rarely, X-CGD is encountered in female carriers with extreme expression of the mutated gene. Here, we report on a woman with a novel mutation in CYBB (CCG[90-92]-->GGT), predicting Tyr30Arg31-->stop, Val in gp91phox, who presented with clinical symptoms at the age of 66. The mutation was present in heterozygous form in genomic DNA from her leukocytes but was fully expressed in mRNA from these cells, indicating that in her leukocytes the X chromosome carrying the nonmutated CYBB allele had been inactivated. Indeed, only 0.4% to 2% of her neutrophils showed NADPH oxidase activity. This extreme skewing of her X-chromosome inactivation was not found in her cheek mucosal cells and is thus not due to a general defect in gene methylation on one X chromosome. Moreover, the CYBB mutation was not present in the DNA from her cheek cells and was barely detectable in the DNA from her memory T lymphocytes. Thus, this patient shows a somatic mosaic for the CYBB mutation, which probably originated during her lifetime in her bone marrow. PMID:15308575

  9. High frequency of the c.3207CA (p.H1069Q) mutation in A TP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease

    Institute of Scientific and Technical Information of China (English)

    Laimutis Kucinskas; Jolanta Jeroch; Astra Vitkauskiene; Raimundas Sakalauskas; Vitalija Petrenkiene; Vaidutis Kucinskas; Rima Naginiene; Hartmut Schmidt; Limas Kupcinskas

    2008-01-01

    AIM: To investigate the prevalence of the ATP7B gene mutation in patients with hepatic presentation of Wilson's disease (WD) in Lithuania.METHODS: Eleven unrelated Lithuanian families, including 13 WD patients were tested. Clinically WD diagnosis was established in accordance to the Leipzig scoring system. Genomic DNA was extracted from whole venous blood using a salt precipitation method. Firstly, the semi-nested polymerase chain reaction (PCR) technique was used to detect the c.3207CA (p.H1069Q) mutation. Patients not homozygous for the c.3207CA (p.H1069Q) mutation were further analyzed. The 21 exons of the WD gene were amplified in a thermal cycler (Biometra T3 Thermocycler, G6ttingen, Germany). Direct sequencing of the amplified PCR products was performed by cycle sequencing using fluorescent dye terminators in an automatic sequencer (Applied Biosystems, Darmstadt, Germany).RESULTS: Total of 13 WD patients (mean age 26.4 years; range 17-40; male/female 3/10) presented with hepatic disorders and 16 their first degree relatives (including 12 siblings) were studied. Some of WD patients, in addition to hepatic symptoms, have had extrahepatic disorders (hemolytic anemia 3; Fanconi syndrome 1; neurophsychiatric and behavioural disorder 2). Liver biopsy specimens were available in all of 13 WD patients (8 had cirrhosis; 1-chronic hepatitis; 3-acute liver failure, l-liver steatosis). Twelve of 13 (92.3%) WD patients had the c.3207CA (p.H1069Q) mutation, 6 of them in both chromosomes, 6 were presented as compound heterozygotes with additional c.3472-82delGGTTTAACCAT, c.3402delC, c.3121CT (p.R1041W) or unknown mutations. For one patient with liver cirrhosis and psychiatric disorder (Leipzig score 6), no mutations were found. Out of 16 first degree WD relatives, 11 (68.7%) were heterozygous for the c.3207CA (p.H1069Q) mutation. Two patients with fulminant WD died from acute liver failure and 11 are in full remission under penicillamine or zinc acetate treatment. Three

  10. Presentation

    Directory of Open Access Journals (Sweden)

    Paulo Henrique Freire Vieira

    2013-12-01

    Full Text Available This dossier focuses on one of the essential debate topics today about the territorial dimension of the new development strategies concerned with the worsening of the global socioecological crisis, that is: the challenges related to the activation and integration in networks of localized agri-food systems. For its composition, some contributions presented and debated during the VI International Conference on Localized Agri-food System - The LAFS facing the opportunities and challenges of the new global context have been gathered. The event took place in the city of Florianópolis, from May 21th to 25th of 2013. The event was promoted by the Federal University of Santa Catarina (UFSC and by the Center for the International Cooperation on Agricultural Research for Development (CIRAD. Besides UFSC and CIRAD, EPAGRI, State University of Santa Catarina (UDESC, as well as research institutes and universities from other states (UFMG, IEA/SP, UFS, UFRGS and Mexican and Argentinian partners from the RED SIAL Latino Americana also participated in the organization of lectures, discussion tables and workshops.

  11. Presentation

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    Isidor Marí Mayans

    2004-04-01

    Full Text Available As was the case at the conference, "Humanities professions in the knowledge society", the Director of Humanities and Philology Studies at the UOC, Isidor Marí, presents this Dossier, and the subsequent virtual debate, with the aim of gaining useful conclusions, with specific repercussions on the organisation of the degree studies and its professional projection, especially at this time, which requires study plans to be redesigned in line with the Bologna process. In the author's opinion, we can only make the right operative decisions when we are able to understand the transformations taking place in the humanistic culture framed by the knowledge society, and to do so, debate has to be opened in which students, graduates, academics, researchers, professionals and analysts can all take part.In this article, Isidor Marí analyses the tensions and contradictions that arise when attempts are made to relate the concepts of the professional world, Humanities and the knowledge society. Firstly, neither are Humanities a profession nor the study of Humanities seen by students or society to be adaptable to the definition of professional profiles. However, this highlights an important paradox, as the culture economy, (and, thus, occupations in the cultural sector, is growing increasingly throughout western societies. Likewise, in terms of the relationship between Humanities and the knowledge society, the author describes and analyses how there currently coexist voices foreseeing the worst alongside those that see information and communications technologies opening the way for an enormously positive transformation in human civilisation and a new cultural era.

  12. Presentation

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    Eduardo Vicente

    2013-06-01

    Full Text Available In the present edition of Significação – Scientific Journal for Audiovisual Culture and in the others to follow something new is brought: the presence of thematic dossiers which are to be organized by invited scholars. The appointed subject for the very first one of them was Radio and the invited scholar, Eduardo Vicente, professor at the Graduate Course in Audiovisual and at the Postgraduate Program in Audiovisual Media and Processes of the School of Communication and Arts of the University of São Paulo (ECA-USP. Entitled Radio Beyond Borders the dossier gathers six articles and the intention of reuniting works on the perspectives of usage of such media as much as on the new possibilities of aesthetical experimenting being build up for it, especially considering the new digital technologies and technological convergences. It also intends to present works with original theoretical approach and original reflections able to reset the way we look at what is today already a centennial media. Having broadened the meaning of “beyond borders”, four foreign authors were invited to join the dossier. This is the first time they are being published in this country and so, in all cases, the articles where either written or translated into Portuguese.The dossier begins with “Radio is dead…Long live to the sound”, which is the transcription of a thought provoking lecture given by Armand Balsebre (Autonomous University of Barcelona – one of the most influential authors in the world on the Radio study field. It addresses the challenges such media is to face so that it can become “a new sound media, in the context of a new soundscape or sound-sphere, for the new listeners”. Andrew Dubber (Birmingham City University regarding the challenges posed by a Digital Era argues for a theoretical approach in radio studies which can consider a Media Ecology. The author understands the form and discourse of radio as a negotiation of affordances and

  13. Presentation of hemophagocytic lymphohistiocytosis due to a novel MUNC 13–4 mutation masked by partial therapeutic immunosuppression

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    Garrett Jackie P-D

    2012-05-01

    Full Text Available Abstract Hemophagocytic lymphohistiocytosis is a potentially fatal disease characterized by excessive macrophage and lymphocyte activity. Patients can be affected following immune activation after an oncologic, autoimmune or infectious trigger. An associated gene mutation may be found which impairs cytolytic lymphocyte function. We describe a pediatric case of hemophagocytic lymphohistiocytosis with a novel mutation of MUNC 13–4 whose diagnosis was confounded by concurrent immunosuppression. Clinical reassessment for hemophagocytic lymphohistiocytosis is necessary in persistently febrile patients with laboratory derangements in the setting of immunosuppressive agent exposure.

  14. ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA

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    D. Bahena-Bahena

    2014-01-01

    Full Text Available Patients with ARCL-IIA harbor mutations in ATP6V0A2 that codes for an organelle proton pump. The ARCL-IIA syndrome characteristically presents a combined glycosylation defect affecting N-linked and O-linked glycosylations, differentiating it from other cutis laxa syndromes and classifying it as a Congenital Disorder of Glycosylation (ATP6V0A2-CDG. We studied two Mexican Mestizo patients with a clinical phenotype corresponding to an ARCL-IIA syndrome. Both patients presented abnormal transferrin (N-linked glycosylation but Patient 1 had a normal ApoCIII (O-linked glycosylation profile. Mutational screening of ATP6V0A2 using cDNA and genomic DNA revealed in Patient 1 a previously reported homozygous nonsense mutation c.187C>T (p.R63X associated with a novel clinical finding of a VSD. In Patient 2 we found a homozygous c.2293C>T (p.Q765X mutation that had been previously reported but found that it also altered RNA processing generating a novel transcript not previously identified (r.2176_2293del; p.F726Sfs*10. This is the first report to describe Mestizo patients with molecular diagnosis of ARCL-IIA/ATP6V0A2-CDG and to establish that their mutations are the first to be found in patients from different regions of the world and with different genetic backgrounds.

  15. Docetaxel for non small cell lung cancer harboring the activated EGFR mutation with T790M at initial presentation

    Directory of Open Access Journals (Sweden)

    Yamane H

    2013-03-01

    Full Text Available Hiromichi Yamane,1 Nobuaki Ochi,1 Masayuki Yasugi,2 Takayuki Tabayashi,1 Tomoko Yamagishi,1 Yasumasa Monobe,3 Akiko Hisamoto,4 Katsuyuki Kiura,4 Nagio Takigawa1 1Department of General Internal Medicine 4, Kawasaki Medical School, Okayama, Japan; 2Department of Respiratory Medicine, National Hospital Organization Fukuyama Medical Center, Fukuyama, Japan; 3Department of Pathology, Kawasaki Medical School Kawasaki Hospital, Okayama, Japan; 4Department of Hematology, Oncology, and Respiratory Medicine, Okayama University Graduate School of Medicine, Okayama, Japan Abstract: A 72-year-old woman was referred to our hospital with Stage IV non-small-cell lung cancer (NSCLC. Chest computed tomography revealed a mass in the upper lobe of the right lung, with pleural effusion. Cytologic examination identified adenocarcinoma cells in the right pleural effusion. Furthermore, both a deletion mutation in exon 19 and a threonine–methionine substitution mutation at position 790 in exon 20 (T790M were detected in the epidermal growth factor receptors (EGFR in the malignant cells. As systemic chemotherapy consisting of carboplatin and pemetrexed or erlotinib proved ineffective, docetaxel monotherapy was initiated as a third-line treatment. Following salvage chemotherapy, her Eastern Cooperative Oncology Group performance status improved from 3 to 1, with tumor regression over 5 months. To the best of our knowledge, this is the first report of successful docetaxel treatment for a patient with NSCLC harboring the T790M EGFR-activating mutation identified before treatment with EGFR tyrosine kinase inhibitors. Keywords: non-small-cell lung cancer, EGFR mutation, pretreatment mutation, T790M, docetaxel

  16. Effect of low dose gamma radiation on stamen-hairs of different clones of Tradescantia presenting variability in the frequency of spontaneous mutations

    International Nuclear Information System (INIS)

    Changes in the frequency of spontaneous somatic mutations were studied for three different clones of Tradescantia heterozygotes for flower and stamen-hair color keeping them under controlled or natural conditions in order to verify the effect of different environmental conditions on the different genotypes. The effect of inflorescence age on the variation of spontaneous mutations was studied choosing young and old inflorescences of a same plant. Low dose irradiation experiments were carried out with those clones to elucidate the radiation effects on the clones presenting changes in the frequency of spontaneous mutations. The chronic-and acute irradiation effects of low dose irradiation of the stamen-hair of Tradescantia were also studied. Results are discussed. (M.A.)

  17. Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease

    OpenAIRE

    Nogales-Gadea, Gisela; Pinós, Tomás; Lucía Mulas, Alejandro; Arenas, Joaquín; Cámara, Yolanda; Brull, Astrid; de Luna, Noemí; Martín, Miguel Ángel; García-Arumi, Elena; Martí, Ramón; Andreu, Antoni L.

    2012-01-01

    McArdle disease (glycogenosis type V), the most common muscle glycogenosis, is a recessive disorder caused by mutations in PYGM, the gene encoding myophosphorylase. Patients with McArdle disease typically experience exercise intolerance manifested as acute crises of early fatigue and contractures, sometimes with rhabdomyolysis and myoblobinuria, triggered by static muscle contractions or dynamic exercises. Currently, there are no therapies to restore myophosphorylase activity in patients. Alt...

  18. A woman with a rare p.Glu74Gly transthyretin mutation presenting exclusively with a rapidly progressive neuropathy: a case report

    OpenAIRE

    Schänzer, Anne; Kimmich, Christoph; Röcken, Christoph; Haverkamp, Thomas; Weidner, Isabell; Acker, Till; Krämer, Heidrun H.

    2014-01-01

    Introduction: Familial amyloid polyneuropathy is a rare autosomal dominant disorder caused by mutations in the transthyretin gene, TTR. Diagnosis can be challenging, especially if other family members are not affected or an obvious systemic involvement is lacking. The patients are often misdiagnosed, leading to a delay in the initiation of therapy. Case presentation: A 35-year-old woman of Turkish origin presented to our outpatient clinic with severe polyneuropathy associated with distally ...

  19. HIV-1 diversity and drug resistance mutations among people seeking HIV diagnosis in voluntary counseling and testing sites in Rio de Janeiro, Brazil.

    Directory of Open Access Journals (Sweden)

    Carlos A Velasco-de-Castro

    Full Text Available The remarkable viral diversity remains a big challenge to the development of HIV vaccines and optimal therapy worldwide. In the latest years, as a consequence of the large expansion of highly active antiretroviral therapy (HAART availability worldwide, an increase in transmitted drug resistance mutations (TDRM has been observed, varying according the region. This study assessed HIV-1 diversity and TDRM profile over time among newly HIV-1 diagnosed individuals from Rio de Janeiro, Brazil. Blood samples were collected from individuals seeking HIV diagnosis in four voluntary counseling and testing (VCTs sites located in the Rio de Janeiro Metropolitan Area, in 2005-2007. Recent (RS and long-term (LTS HIV-1 seroconverters were distinguished using BED-CEIA. Pol viral sequences were obtained for 102 LTS identified in 2005 and 144 RS from 2005-2007. HIV-1 subtype and pol recombinant genomes were determined using Rega HIV-1 Subtyping Tool and by phylogenetic inferences and bootscanning analyses. Surveillance of HIV-1 TDRM to protease and reverse transcriptase inhibitors were performed according to the Calibrated Population Resistance (CPR Tool 6.0. Overall, subtype B remains the most prevalent in Rio de Janeiro in both LTS and RS HIV-1 infected individuals. An increased proportion of recombinant samples was detected over time, especially in RS heterosexual men, due to the emergence of CRF02_AG and URF samples bearing a subtype K fragment. The prevalence of HIV-1 samples carrying TDRM was high and similar between LTS and RS (15.7% vs 14.6% or age (25yo 16.6% along the study period. The high resistance levels detected in both populations are of concern, especially considering the dynamics of HIV-1 diversity over time. Our results suggest that the incorporation of resistance testing prior to HAART initiation should be highly considered, as well as permanent surveillance, aiming to carefully monitoring HIV-1 diversity, with focus on CRF/URF emergence and

  20. Phenotypic presentation of thrombophilia in double heterozygote for factor v leiden and prothrombin 20210 G>A mutations: Case report

    Directory of Open Access Journals (Sweden)

    Nagorni-Obradović Ljudmila

    2014-01-01

    Full Text Available Physicians usually do not suspect pulmonary thromboembolism in younger patients except in those who have thrombophilia. In those latter patients some special conditions such as trauma or surgery may provoke the disease. In some adult persons, thrombophilia may still remain unrecognized, until appearance of additional conditions influence development of thrombosis. A 55-year-old Caucasian female, non-smoker, experienced sudden chest pain and hemoptysis without chest trauma. History taking revealed type 2 diabetes mellitus and hypothyroidism. She was overweight with body mass index 29.0. The review of the family history revealed that her father and mother died of brain infarction, while her 22-year-old son and 24-year-old daughter were healthy. Due to suspicion for thrombosis, multi-slice computerized tomography thorax scan was done and pulmonary embolism was diagnosed. Although without clear risk factor for thrombosis in our patient, we performed laboratory investigation for congenital thrombophilia. Genetic analysis showed double heterozygous for factor V Leiden and prothrombin 20210 G>A mutations. Congenital thrombophilia was risk factor for thrombosis in our patient but haemostatic imbalance was not previously clinically recognized. She had two pregnancies without complications. Appearance of other associative factors such as endocrine disorders - hypothyroidism and metabolic syndrome with diabetes type 2, and overweigh were additional potential triggers for clinical manifestation of pulmonary thromboembolism in her adult age. Her children underwent genetic analysis, too. The son was also double heterozygous for factor V Leiden and prothrombin 20210 G>A mutations, while daughter was heterozygous for factor V Leiden, and none had clinical signs of thrombosis. [Projekat Ministarstva nauke Republike Srbije, br. ON175081 i br. ON 175091

  1. Prevalence of an inherited cancer predisposition syndrome associated with the germ line TP53 R337H mutation in Paraguay.

    Science.gov (United States)

    Legal, Edith Falcon-de; Ascurra, Marta; Custódio, Gislaine; Ayala, Horacio Legal; Monteiro, Magna; Vega, Celeste; Fernández-Nestosa, María José; Vega, Sonia; Sade, Elis R; Coelho, Izabel M M; Ribeiro, Enilze M S F; Cavalli, Iglenir J; Figueiredo, Bonald C

    2015-04-01

    The tumor suppressor gene TP53 is the most frequently mutated gene in human cancer, and the germline TP53 R337H mutation is the most common mutation reported to date. However, this mutation is associated with a lower cumulative lifetime cancer risk than other mutations in the p53 DNA-binding domain. A detailed statistical analysis of 171,500 DNA tests in Brazilian neonates found that 0.27% of the general population is positive for this mutation, and some of the estimated 200,000 Brazilian R337H carriers in southern and southeastern Brazil have already developed cancer. The present study was designed to estimate R337H prevalence in neighboring Paraguay. To address this question, 10,000 dried blood samples stored in Guthrie cards since 2008 were randomly selected from the Paraguayan municipalities located at the border with Brazil. These samples were tested for R337H mutation using the PCR-restriction fragment length polymorphism assay. This germline mutation was detected in five samples (5/10,000), indicating that the total number of R337H carriers in Paraguay may be as high as 3500. Previous studies have shown that other countries (i.e., Portugal, Spain, and Germany) presented one family with this mutation, leading us to conclude that, besides Brazil and Paraguay, other countries may have multiple families carrying this mutation, which is an inherited syndrome that is difficult to control.

  2. A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty.

    Science.gov (United States)

    Koçyiğit, Cemil; Sarıtaş, Serdar; Çatlı, Gönül; Onay, Hüseyin; Dündar, Bumin Nuri

    2016-06-01

    Partial androgen insensitivity syndrome (PAIS) typically presents with micropenis, perineoscrotal hypospadias, and a bifid scrotum with descending or undescending testes and gynecomastia at puberty. It is an X-linked recessive disorder resulting from mutations in the androgen receptor (AR) gene. However, AR gene mutations are found in less than a third of PAIS cases. A 16-year-old boy was admitted with complaints of gynecomastia and sparse facial hair. Family history revealed male relatives from maternal side with similar clinical phenotype. His external genitalia were phenotypically male with pubic hair Tanner stage IV, penoscrotal hypospadias, and a bifid scrotum with bilateral atrophic testes. He had elevated gonadotropins with a normal testosterone level. Chromosome analysis revealed a 46,XY karyotype. Due to the family history suggesting a disorder of X-linked trait, PAIS was considered and molecular analysis of AR gene was performed. DNA sequence analysis revealed a novel hemizygous mutation p.T576I (c.1727C>T) in the AR gene. The diagnosis of PAIS is based upon clinical phenotype and laboratory findings and can be confirmed by detection of a defect in the AR gene. An accurate approach including a detailed family history suggesting an X-linked trait is an important clue for a quick diagnosis. PMID:27087292

  3. Biochemical Education in Brazil.

    Science.gov (United States)

    Vella, F.

    1988-01-01

    Described are discussions held concerning the problems of biochemical education in Brazil at a meeting of the Sociedade Brazileira de Bioquimica in April 1988. Also discussed are other visits that were made to universities in Brazil. Three major recommendations to improve the state of biochemistry education in Brazil are presented. (CW)

  4. Foot and mouth disease in Brazil and its control--an overview of its history, present situation and perspectives for eradication.

    Science.gov (United States)

    Mayen, F L

    2003-02-01

    The objective of eliminating foot and mouth disease (FMD) in Brazil has been mainly motivated by the constant preoccupation of Brazilian authorities, livestock breeders and the meat industry with avoiding economic losses due to export restrictions. In 1934, the first national sanitary legislation was enacted, and the Pan-American Foot and Mouth Disease Center in Rio de Janeiro was inaugurated in 1951, with international participation. An overview is given of the past campaigns against FMD, the legislation, policies and field activities. The reasons for the failure of the past campaigns are discussed. The structure of the existing campaign and the present epidemiological situation are explained, and the further possibilities of being recognized as an FMD-free country are discussed. PMID:12718507

  5. Initial comments on the aero geophysical information present at the B and C areas of the Itatira (Brazil) project; Comentarios iniciais sobre as informacoes aerogeofisicas presentes nas areas B e C do Projeto Itatira

    Energy Technology Data Exchange (ETDEWEB)

    Castro, Neivaldo Araujo de; Castelo Branco, Raimundo Mariano Gomes [Ceara Univ., Fortaleza, CE (Brazil). Dept. de Geologia. Lab. de Geofisica de Prospeccao e Sensoriamento Remoto

    1999-07-01

    The aero geophysical project called Itatira,, accomplished by LASA Engenharia e Prospeccoes S.A., Between September and November/1977 through contract with NUCLEBRAS, corresponds to one of the first project of this gender accomplished in national territory. In this project were flight more than 80 000 km of linear lines, which covered approximately 38 000 km{sup 2} on the precambrian terrains of the Ceara State, NE Brazil. For several reasons, the total area of the project was subdivided in three sub-areas (A, B and C), each one covered by a different airship (LAS, 1977). This paper presents the geophysical information and preliminary interpretations of the areas B and C that were obtained through the integrated use of the soft wares AUTOCAD r. 14, OASIS MONTAJ r.4.2 and ERMAPPER r.5.5. (author)

  6. A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle.

    Science.gov (United States)

    Villarreal, Diana D; Villarreal, Humberto; Paez, Ana Maria; Peppas, Dennis; Lynch, Jane; Roeder, Elizabeth; Powers, George C

    2013-12-01

    We present a Hispanic male with the clinical and molecular diagnosis of Simpson-Golabi-Behmel syndrome (SGBS). The patient was born with multiple anomalies not entirely typical of SGBS patients, including penoscrotal hypospadias, a large prostatic utricle, and left coronal craniosynostosis. In addition, he demonstrated endocrine anomalies including a low random cortisol level suspicious for adrenal insufficiency and low testosterone level. To our knowledge, this is the first report of a prostatic utricle in SGBS and the second report of craniosynostosis. The unique disease-causing mutation likely arose de novo in the mother. It is a deletion-insertion that leads to a frameshift at the p.p. S359 [corrected] residue of GPC3 and a premature stop codon after five more amino acids. p. S359 [corrected] is the same residue that is normally cleaved by the Furin convertase, although the significance of this novel mutation with respect to the patient's multiple anomalies is unknown. We present this case as the perinatal course of a patient with unique features of SGBS and a confirmed molecular diagnosis.

  7. A novel point mutation in a class IV glucose-6-phosphate dehydrogenase variant (G6PD São Paulo and polymorphic G6PD variants in São Paulo State, Brazil

    Directory of Open Access Journals (Sweden)

    Raimundo Antonio G. Oliveira

    2009-01-01

    Full Text Available In this study, we used red cell glucose-6-phosphate dehydrogenase (G6PD activity to screen for G6PD-deficient individuals in 373 unrelated asymptomatic adult men who were working with insecticides (organophosphorus and carbamate in dengue prevention programs in 27 cities in São Paulo State, Brazil. Twenty-one unrelated male children suspected of having erythroenzymopathy who were attended at hospitals in São Paulo city were also studied. Fifteen of the 373 adults and 12 of the 21 children were G6PD deficient. G6PD gene mutations were investigated in these G6PD-deficient individuals by using PCR-RFLP, PCR-SSCP analysis and DNA sequencing. Twelve G6PD A-202A/376G and two G6PD Seattle844C, as well as a new variant identified as G6PD São Paulo, were detected among adults, and 11 G6PD A-202A/376G and one G6PD Seattle844C were found among children. The novel mutation c.660C > G caused the replacement of isoleucine by methionine (I220M in a region near the dimer interface of the molecule. The conservative nature of this mutation (substitution of a nonpolar aliphatic amino acid for another one could explain why there was no corresponding change in the loss of G6PD activity (64.5% of normal activity in both cases.

  8. Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil

    Directory of Open Access Journals (Sweden)

    Crisle Vignol Dillenburg

    2012-01-01

    Full Text Available Certain mutations in BRCA1 and BRCA2 genes are frequent in the Ashkenazi Jewish population. Several factors contribute to this increased frequency, including consanguineous marriages and an event known as a "bottleneck', which occurred in the past and caused a drastic reduction in the genetic variability of this population. Several studies were performed over the years in an attempt to elucidate the role of BRCA1 and BRCA2 genes in susceptibility to breast cancer. The aim of this study was to estimate the carrier frequency of certain common mutations in the BRCA1 (185delAG and 5382insC and BRCA2 (6174delT genes in an Ashkenazi Jewish population from Porto Alegre, Brazil. Molecular analyses were done by PCR followed by RFLP (ACRS. The carrier frequencies for BRCA1 185delAG and 5382insC were 0.78 and 0 respectively, and 0.4 for the BRCA2 6174deT mutation. These findings are similar to those of some prior studies but differ from others, possibly due to excluding individuals with a personal or family history of cancer. Our sample was drawn from the community group and included individuals with or without a family or personal history of cancer. Furthermore, increased dispersion among Ashkenazi subpopulations may be the result of strong genetic drift and/or admixture. It is therefore necessary to consider the effects of local admixture on the mismatch distributions of various Jewish populations.

  9. Presentation of Acute Megakaryoblastic Leukemia Associated with a GATA-1 Mutation Mimicking the Eruption of Transient Myeloproliferative Disorder.

    Science.gov (United States)

    Boos, Markus D; Wine Lee, Lara; Freedman, Jason L; Novoa, Roberto A; Chu, Emily Y; Perman, Marissa J

    2015-01-01

    Children with trisomy 21 are prone to developing hematologic disorders, including transient myeloproliferative disorder (TMD) and acute megakaryoblastic leukemia (AMKL). The papulovesicular eruption of TMD provides an important clue to the diagnosis. In contrast, AMKL rarely has associated cutaneous findings. We report the case of a 22-month-old child with trisomy 21 who presented with the acute onset of diffusely scattered and crusted papules, plaques, and vesicles. A thorough infectious evaluation was negative and the patient was unresponsive to empiric antibiotic and antiinflammatory therapies. Complete blood count (CBC) was notable for mild pancytopenia, with a normal peripheral smear. Two weeks later he was reassessed and found to have a population of blasts on repeat CBC. Subsequent evaluation ultimately led to a diagnosis of AMKL. This is the first reported case of a cutaneous eruption in a young child with Down syndrome and transformed AMKL. When children with trisomy 21 present with the acute onset of crusted papules and vesicles that cannot be accounted for by an infectious etiology, a diagnosis of AMKL should be considered even in the absence of a history of TMD. PMID:26205501

  10. A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance.

    Science.gov (United States)

    Choi, Hae-Won; Lee, Yeoun Joo; Oh, Seak Hee; Kim, Kyung Mo; Ryu, Jeong-Min; Lee, Beom Hee; Kim, Gu-Hwan; Yoo, Han-Wook

    2012-01-01

    Hereditary fructose intolerance is an autosomal recessive disorder that is caused by a deficiency in fructose-1-phosphate aldolase (Aldolase B). Children can present with hypoglycemia, jaundice, elevated liver enzymes and hepatomegaly after intake of dietary fructose. Long-term intake of fructose in undiagnosed patients can result in hepatic failure or renal failure. We experienced a case of hereditary fructose intolerance presenting as recurrent hepatitis-like episodes. Detailed evaluation of her dietary habits revealed her avoidance of sweetened foods and fruits. Genetic analysis of ALDOB revealed that she is a homozygote for a novel frameshifting mutation c[758_759insT]+[758_759insT] (p.[val25 3fsX24]+[val253fsX24]). This report is the first of a Korean patient diagnosed with hereditary fructose intolerance using only molecular testing without undergoing intravenous fructose tolerance test or enzyme assay.

  11. Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

    DEFF Research Database (Denmark)

    Pagel, Julia; Beutel, Karin; Lehmberg, Kai;

    2012-01-01

    genetic and clinical spectrum of FHL5, we analyzed a cohort of 185 patients with suspected FHL for mutations in STXBP2. We detected biallelic mutations in 37 patients from 28 families of various ethnic origins. Missense mutations and mutations affecting 1 of the exon 15 splice sites were the predominant......Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically determined hyperinflammatory syndrome caused by uncontrolled immune response mediated by T-lymphocytes, natural killer (NK) cells, and macrophages. STXBP2 mutations have recently been associated with FHL5. To better characterize the...

  12. [A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].

    Science.gov (United States)

    Morisada, Naoya; Tsuneishi, Syuichi; Taguchi, Kazuhiro; Yagi, Ryuzaburo; Nishiyama, Masahiro; Toyoshima, Daisaku; Nakagawa, Taku; Takeshima, Yasuhiro; Takada, Satoshi; Iijima, Kazumoto

    2016-05-01

    Beta-propeller protein-associated neurodegeneration (BPAN) is one of the neurodegenerative disorders characterized by iron deposition in the brain and is the only known disease in humans to be caused by an aberration in autophagocytosis. Here, we present the case of a 42-year-old woman with BPAN identified by the WDR45 mutation. From early childhood, she was recognized as having global developmental delay, and she frequently sucked her hand, which was considered to be a stereotypical movement. She had a febrile convulsion at 6 months of age but there was no history of epilepsy. The delay in language development was more severe than the delay in motor development; she was able to dress herself, walk unaided, and follow simple instructions until adolescence. After the age of 20, her movement ability rapidly declined. By the time she was 42 years old, she was bedridden and unable to communicate. Brain magnetic resonance imaging (MRI) at 21 years revealed no abnormality except non-specific cerebral atrophy. However, MRI at 39 years revealed abnormalities in the globus pallidus and substantia nigra, with neurodegeneration and iron accumulation in the brain. Genetic analysis for WDR45 revealed that she had a splice site mutation (NM_007075.3: c.830 + 2 T > C) which was previously reported, and a diagnosis of BPAN was confirmed. For specific therapies to be developed for BPAN in the future, it is necessary to establish early diagnosis, including genetic analysis. PMID:27349085

  13. Cardiac ryanodine receptor gene (hRyR2) mutation underlying catecholaminergic polymorphic ventricular tachycardia in a Chinese adolescent presenting with sudden cardiac arrest and cardiac syncope

    Institute of Scientific and Technical Information of China (English)

    Ngai-Shing Mok; Ching-Wan Lam; Nai-Chung Fong; Yim-Wo Hui; Yuen-Choi Choi; Kwok-Yin Chan

    2006-01-01

    @@ Sudden cardiac death (SCD) in children and adolescents is uncommon and yet it is devastating for both victim's family and the society.Recently, it was increasingly recognized that SCD in young patients with structurally normal heart may be caused by inheritable primary electrical diseases due to the malfunction of cardiac ion channels, a disease entity known as the ion channelopathies.Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a specific form of ion channelopathy which can cause cardiac syncope or SCD in young patients by producing catecholamine-induced bi-directional ventricular tachycardia (BiVT), polymorphic VT and ventricular fibrillation (VF) during physical exertion or emotion.1-7 We reported here an index case of CPVT caused by cardiac ryanodine receptor gene (hRyR2)mutation which presented as cardiac syncope and sudden cardiac arrest in a Chinese adolescent female.

  14. Doenças da mandioquinha-salsa e sua situação atual no Brasil Present situation of arracacha (Arracacia xanthorrhiza diseases in Brazil

    Directory of Open Access Journals (Sweden)

    Gilmar P. Henz

    2002-06-01

    been recorded are described and their current situation in Brazil is discussed. Since its introduction in 1900-1910, arracacha has been considered a non-demanding crop, presenting some minor disease problems, especially when compared to other vegetable crops. Many of the recorded arracacha diseases in Brazil and other Latin American countries are poorly described, for there is hardly any information about pathogenicity tests, pathogen identity, crop losses and environmental conditions affecting diseases. Worldwide, 27 genera of fungi, three of bacteria, nine of nematodes and five species of viruses have been recorded. Of these, thirteen fungi and all bacteria and nematodes were recorded in Brazil. So far, no virus has been recorded, although virus-like symptoms have been observed. The most important diseases are the root knot, caused by Meloidogyne spp., and the postharvest soft rot caused by Erwinia spp. Commonly occurring diseases are leaf spots caused by Septoria spp., Cercospora spp. and Xanthomonas campestris pv. arracaciae, as well as plant rots caused by Sclerotium rolfsii and Sclerotinia sclerotiorum. Viruses could become of great importance since this crop is vegetatively propagated, and part of the plantlets are now being produced in nurseries by a new technique (pre-rooting and then disseminated to different areas throughout Brazil. As there is no pesticide officially registered for this crop in Brazil, preventive measures of control must be used, such as crop rotation, suitable fertilization and irrigation, and removal and destruction of diseased plants. Arracacha seems to be suitable for organic cropping systems, since few diseases are considered limitant.

  15. Genotyping of Mycobacterium leprae present on Ziehl-Neelsen-stained microscopic slides and in skin biopsy samples from leprosy patients in different geographic regions of Brazil

    Directory of Open Access Journals (Sweden)

    Amanda Nogueira Brum Fontes

    2012-12-01

    Full Text Available We analysed 16 variable number tandem repeats (VNTR and three single-nucleotide polymorphisms (SNP in Mycobacterium leprae present on 115 Ziehl-Neelsen (Z-N-stained slides and in 51 skin biopsy samples derived from leprosy patients from Ceará (n = 23, Pernambuco (n = 41, Rio de Janeiro (n = 22 and Rondônia (RO (n = 78. All skin biopsies yielded SNP-based genotypes, while 48 of the samples (94.1% yielded complete VNTR genotypes. We evaluated two procedures for extracting M. leprae DNA from Z-N-stained slides: the first including Chelex and the other combining proteinase and sodium dodecyl sulfate. Of the 76 samples processed using the first procedure, 30.2% were positive for 16 or 15 VNTRs, whereas of the 39 samples processed using the second procedure, 28.2% yielded genotypes defined by at least 10 VNTRs. Combined VNTR and SNP analysis revealed large variability in genotypes, but a high prevalence of SNP genotype 4 in the Northeast Region of Brazil. Our observation of two samples from RO with an identical genotype and seven groups with similar genotypes, including four derived from residents of the same state or region, suggest a tendency to form groups according to the origin of the isolates. This study demonstrates the existence of geographically related M. leprae genotypes and that Z-N-stained slides are an alternative source for M. leprae genotyping.

  16. Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency.

    Science.gov (United States)

    Choi, Jong Sub; Yoo, Hyeoh Won; Lee, Kyung Jae; Ko, Jung Min; Moon, Jin Soo; Ko, Jae Sung

    2016-03-01

    Carnitine palmitoyltransferase 1A (CPT1A) is an enzyme functioning in mitochondrial fatty acid oxidation (FAO) of the liver. Patients with CPT1A deficiency have impaired mitochondrial FAO and display hypoketotic hypoglycemia and hepatic encephalopathy as typical manifestations. In this report, we present a case of CPT1A deficiency presenting jaundice as the first manifestation. A 1.9 years old boy showed jaundice and elevated levels of free and total carnitine were observed. From direct sequencing analysis of CPT1A, two novel mutations, c.1163+1G>A and c.1393G>A (p.Gly465Arg), were identified. At the age of 2.2 years, hypoglycemia, tachycardia, and altered mental status developed just after cranioplasty for craniosynostosis. High glucose infusion rate was required for recovery of his vital signs and mentality. Diet rich in high carbohydrate, low fat and inclusion of medium chain triglyceride oil resulted in improvement in cholestatic hepatitis and since then the boy has shown normal growth velocity and developmental milestones to date. PMID:27066452

  17. First Membrane Proximal External Region-Specific Anti-HIV1 Broadly Neutralizing Monoclonal IgA1 Presenting Short CDRH3 and Low Somatic Mutations.

    Science.gov (United States)

    Benjelloun, Fahd; Oruc, Zeliha; Thielens, Nicole; Verrier, Bernard; Champier, Gael; Vincent, Nadine; Rochereau, Nicolas; Girard, Alexandre; Jospin, Fabienne; Chanut, Blandine; Genin, Christian; Cogné, Michel; Paul, Stephane

    2016-09-01

    Mucosal HIV-1-specific IgA have been described as being able to neutralize HIV-1 and to block viral transcytosis. In serum and saliva, the anti-HIV IgA response is predominantly raised against the envelope of HIV-1. In this work, we describe the in vivo generation of gp41-specific IgA1 in humanized α1KI mice to produce chimeric IgA1. Mice were immunized with a conformational immunogenic gp41-transfected cell line. Among 2300 clones screened by immunofluorescence microscopy, six different gp41-specific IgA with strong recognition of gp41 were identified. Two of them have strong neutralizing activity against primary HIV-1 tier 1, 2, and 3 strains and present a low rate of somatic mutations and autoreactivity, unlike what was described for classical gp41-specific IgG. Epitopes were identified and located in the hepted repeat 2/membrane proximal external region. These Abs could be of interest in prophylactic treatment to block HIV-1 penetration in mucosa or in chronically infected patients in combination with antiretroviral therapy to reduce viral load and reservoir. PMID:27481846

  18. Substitution of Aspartate for glycine 1018 in the Type III procollagen (COL3AI) gene causes type IV Ehlers-Danlos Syndrome: The mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother

    Energy Technology Data Exchange (ETDEWEB)

    Kontusaari, S.; Tromp, G.; Kuivaniemi, H.; Prockop, D.J. (Thomas Jefferson Univ., Philadelphia, PA (United States)); Stolle, C. (Robert Wood Johnson Medical School, Piscataway, NJ (United States)); Pope, F.M.

    1992-09-01

    A proband with arterial ruptures and skin changes characteristic of the type IV variant of Ehlers-Danlos syndrome was found to have a single-base mutation in the type III procollagen gene, which converted the codon for glycine at amino position 1018 to a codon for aspartate. (Amino acid positions are numbered by the standard convention in which the first glycine of the triple-helical domain of an [alpha] chain is number 1. The numbers of positions in the [alpha]1(III) chains can be converted to positions in the human pro[alpha](III) chain by adding 167.). Nucleotide sequencing of overlapping PCR products in which the two alleles were distinguished demonstrated that the mutation of glycine 1018 was the only mutation that changed the primary structure of type III procollagen. The glycine substitution markedly decreased the amount of type III procollagen secreted into the medium by cultured skin fibroblasts from the proband. It is surprising that the same mutation was found in about 94% of the peripheral blood leukocytes from the proband's asymptomatic 72-year-old mother. Other tissues from the mother contained the mutated allele; it was present in 0%-100% of different samples of hair cells and in about 40% of cells from the oral epithelium. Therefore, the mother was a mosaic for the mutation. Since the mutated allele was present in cells derived from all three germ layers, the results indicated that the mutation arose by the late blastocyst stage of development. The results also indicate that assays of blood leukocytes do not always reveal mosaicism or predict phenotypic involvement of tissues, such as blood vessels, that are derived from the same embryonic cells as are leukocytes. 66 refs., 6 figs., 1 tab.

  19. BRCA1 mutations in Brazilian patients

    Directory of Open Access Journals (Sweden)

    Juliano Javert Lourenço

    2004-01-01

    Full Text Available BRCA1 mutations are known to be responsible for the majority of hereditary breast and ovarian cancers in women with early onset and a family history of the disease. In this paper we present a mutational survey conducted in 47 Brazilian patients with breast/ovarian cancer, selected based on age at diagnosis, family history, tumor laterality, and presence of breast cancer in male patients. All 22 coding exons and intron-exon junctions were sequenced. Constitutional mutations were found in seven families, consisting of one insertion (insC5382 in exon 20 (four patients, one four base-pair deletion (3450-3453delCAAG in exon 11 resulting in a premature stop codon (one patient, one transition (IVS17+2T> C in intron 17 affecting a mRNA splicing site (one patient, and a C> T transition resulting in a stop-codon (Q1135X in exon 11 (one patient. The identification of these mutations which are associated to hereditary breast and ovarian cancers will contribute to the characterization of the mutational spectrum of BRCA1 and to the improvement of genetic counseling for familial breast/ovarian cancer patients in Brazil.

  20. Characterization of the geochemical processes present in the radionuclides and metals mobilization in the tailing dam at the Uranium Mining and Milling Facilities - Pocos de Caldas, MG, Brazil

    International Nuclear Information System (INIS)

    In Brazil, the first step of nuclear fuel cycle - the mining and milling of the uranium ore - is developed at the Uranium Mining and Milling Facilities of Pocos de Caldas, Minas Gerais state. The wastes management is a very important aspect of the process. The understanding of the geochemical processes that occur in the tailings dam is a key question to define a plan of action concerning the decommissioning strategy of the facility. The objective of the present work was to give some issues to help in the adoption of the remedial actions concerning the decommissioning of the facility. It focused on the characterization of the most important geochemical processes regulating the mobilization of radionuclides and heavy metals in the tailings dam. Two cores from the tailings dam (uncovered area) were collected. Seepage and drainage waters were sampled, the same being true for the tailings dam lake. Groundwater form an aquifer bellow the tailings dam and superficial waters from a river that receives the effluents of the dam (Soberbo River) were also sampled. Data from the mining company were used to calculate the inventory of radionuclides and heavy metals deposited in the waste dam.The obtained results showed that pyrite oxidation is the key process in the mobilization of radionuclides and heavy metals from the wastes. Pyrite oxidation is a process regulated by oxygen diffusion and water. In the studied scenario it could be shown that the process was limited to a one meter deep layer in the uncovered part of the waste dam. Because of this, Fe, Al, Mn, Zn, Th and 238 U showed higher concentrations in the bottom layers of the cores in relation to the upper ones. 226 Ra and 210 Pb showed opposite patterns. The coprecipitation with Ca SO4 was the most relevant mechanism in both radionuclides immobilization in the wastes. Sulfate was the only chemical species that could be assigned as a contaminant in aquifer bellow the waste dam. As a conclusion, the target environmental

  1. The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3

    Directory of Open Access Journals (Sweden)

    Marco Favio Michele Vismara

    2015-01-01

    We now report a consanguineous Italian family from Calabria with two affected members segregating alveolar microlithiasis in a recessive fashion. We describe, for the first time, a novel loss of function mutation in the gene coding for NaPi-IIb. A careful description of the clinical phenotype is provided together with technical details for direct sequencing of the gene.

  2. A Retrospective Review of Conjunctival Melanoma Presentation, Treatment, and Outcome and an Investigation of Features Associated With BRAF Mutations

    DEFF Research Database (Denmark)

    Larsen, Ann-Cathrine; Dahmcke, Christina M.; Dahl, Christina;

    2015-01-01

    Denmark from January 1, 1960, to December 31, 2012. For BRAF analysis, all patients with available formalin-fixed, paraffin-embedded tumor samples from January 1, 1994, to December 31, 2012, were included. MAIN OUTCOMES AND MEASURES: BRAF mutations, local recurrence, regional and distant metastasis...

  3. Psychiatric Presentation of Frontotemporal Dementia Associated with Inclusion Body Myopathy due to the VCP Mutation (R155H in a French Family

    Directory of Open Access Journals (Sweden)

    Agnès Jacquin

    2013-10-01

    Full Text Available Introduction: Inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia (IBMPFD is a rare late-onset autosomal dominant disorder due to a mutation of the valosin-containing protein (VCP gene. Case Report: We report the case of a patient who developed progressive weakness of the limbs in his fifties, until he was confined to a wheelchair. At that time, he developed acute behavioural changes including irritability, severe anxiety and major depression, which led to him being hospitalised in a psychiatric hospital. He also suffered from aphasia and executive function impairment, which helped us to diagnose a behavioural form of frontotemporal dementia (FTD. The diagnosis of IBMPFD due to a mutation in the VCP gene was confirmed by a genetic study of the VCP gene (R155H mutation. Discussion: The clinical diagnosis of IBMPFD is suggested by the presence of at least one of three major manifestations as follows: inclusion body myopathy (mean onset at 42 years of age, Paget's disease of the bone and FTD (mean onset at 55 years of age. It is mostly the behavioural form of FTD (behavioural changes, executive dysfunction and aphasia. One interesting finding in our report is the predominance of the psychiatric symptoms at the beginning of the behavioural changes, which led to the diagnosis of FTD. The diagnosis of IBMPFD was confirmed by the genetic study: the R155H mutation found on exon 5 domain CDC48 is the most frequent of the 18 known mutations in the VCP gene.

  4. HIV-1 subtypes and mutations associated to antiretroviral drug resistance in human isolates from Central Brazil Subtipos e mutações associadas à resistência aos anti-retrovirais em isolados de HIV-1 do Distrito Federal

    Directory of Open Access Journals (Sweden)

    Daniela Marreco Cerqueira

    2004-09-01

    Full Text Available The detection of polymorphisms associated to HIV-1 drug-resistance and genetic subtypes is important for the control and treatment of HIV-1 disease. Drug pressure selects resistant variants that carry mutations in the viral reverse transcriptase (RT and protease (PR genes. For a contribution to the public health authorities in planning the availability of therapeutic treatment, we therefore described the genetic variability, the prevalence of mutations associated to drug resistance and the antiretroviral resistance profile in HIV-1 isolates from infected individuals in Central Brazil. Nineteen HIV-1 RNA samples from a Public Health Laboratory of the Federal District were reversely transcribed and cDNAs were amplified by nested PCR. One fragment of 297 bp coding the entire protease gene, and another of 647 bp, corresponding to the partial RT gene (codons 19-234, were obtained. Automated sequencing and BLAST analysis revealed the presence of 17 B and 2 F1 HIV-1 subtypes. The amino acid sequences were analyzed for the presence of resistance-associated mutations. A total of 6 PR mutations, 2 major and 4 accessory, and 8 RT mutations related to drug resistance were found. Our data suggest a high prevalence of HIV-1 B subtype in the studied population of Federal District as well as the presence of genetically-resistant strains in individuals failing treatment.A detecção de polimorfismos do HIV-1 que estejam associados à resistência às drogas anti-retrovirais e aos subtipos genéticos é importante para o controle e tratamento da infecção pelo HIV-1. A pressão exercida pela terapia anti-retroviral seleciona variantes resistentes com mutações nos genes virais da transcriptase reversa (RT e da protease (PR. Assim, visando contribuir com as autoridades de saúde pública na perspectiva de planejar a disponibilidade de um tratamento terapêutico, nós descrevemos a variabilidade genética e a prevalência de mutações associadas à resist

  5. Maize Mutator transposon

    Institute of Scientific and Technical Information of China (English)

    Yijun WANG; Mingliang XU; Dexiang DENG; Yunlong BIAN

    2008-01-01

    Transposable elements are widely distributed in eukaryotes. Due to its high copy numbers, high forward mutation rate and preferential insertion into low-copy DNA sequences, among others, the Mutator system has been widely used as a mutagen in genomic research. The discovery, classification, transposition specificity and epige-netic regulation of Mutator transposons were described. The application of Mutator tagging in plant genomic research was also presented. The role of Mu-like elements in genome evolution was briefly depicted. Moreover, the direction of Mutator transposon research in the future was discussed.

  6. Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes ☆

    OpenAIRE

    Desaphy, Jean-François; Gramegna, Gianluca; Altamura, Concetta; Dinardo, Maria Maddalena; Imbrici, Paola; George, Alfred L.; Modoni, Anna; LoMonaco, Mauro; Conte Camerino, Diana

    2013-01-01

    Myotonia congenita (MC) is caused by loss-of-function mutations of the muscle ClC-1 chloride channel. Clinical manifestations include the variable association of myotonia and transitory weakness. We recently described a cohort of recessive MC patients showing, at a low rate repetitive nerves stimulation protocol, different values of compound muscle action potential (CMAP) transitory depression, which is considered the neurophysiologic counterpart of transitory weakness. From among this cohort...

  7. Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal Bartter syndrome presenting with transient hyperkalemia, evolving to a benign course.

    OpenAIRE

    Cho, Jong Tae; Guay-Woodford, Lisa Marie

    2003-01-01

    Bartter-like syndrome encompasses a set of inherited renal tubular disorders associated with hypokalemic metabolic alkalosis, renal salt wasting, hyperreninemic hyperaldosteronism, and normal blood pressure. Antenatal Bartter syndrome, a subtype of Bartter-like syndrome, is characterized by polyhydramnios, premature delivery, life-threatening episodes of fever and dehydration during the early weeks of life, growth retardation, hypercalciuria, and early-onset nephrocalcinosis. Mutations in the...

  8. Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy.

    Science.gov (United States)

    Nakamura, Akinori; Fueki, Noboru; Shiba, Naoko; Motoki, Hirohiko; Miyazaki, Daigo; Nishizawa, Hitomi; Echigoya, Yusuke; Yokota, Toshifumi; Aoki, Yoshitsugu; Takeda, Shin'ichi

    2016-07-01

    Few cases of dystrophinopathy show an asymptomatic phenotype with mutations in the 5' (exons 3-7) hot spot in the Duchenne muscular dystrophy (DMD) gene. Our patient showed increased serum creatine kinase levels at 12 years of age. A muscle biopsy at 15 years of age led to a diagnosis of Becker muscular dystrophy. The patient showed a slight decrease in cardiac function at the age of 21 years and was administered a β-blocker, but there was no muscle involvement even at the age of 27 years. A deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene was detected, and dystrophin protein expression was ∼15% that of control level. We propose that in-frame deletion of exons 3-9 may produce a functional protein, and that multiexon skipping therapy targeting these exons may be feasible for severe dystrophic patients with a mutation in the 5' hot spot of the DMD gene. PMID:27009627

  9. Population and mutation analysis of Y-STR loci in a sample from the city of São Paulo (Brazil

    Directory of Open Access Journals (Sweden)

    José A. Soares-Vieira

    2008-01-01

    Full Text Available The haplotypes of seven Y-chromosome STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, and DYS393 were determined in a sample of 634 healthy Brazilian males (190 adult individuals and 222 father-son pairs. The 412 adults were unrelated, and the 222 father-son pairs had their biological relationship confirmed using autosomal STRs (LR > 10,000. Among the 412 adults, a total of 264 different 7-loci haplotypes were identified, 210 of which were unique. The most frequent haplotype was detected in 31 instances, occurring with a frequency of 7.52%. The haplotype diversity index was calculated as 98.83%. Upon transmission of the 1,554 alleles, in 222 father-son pairs, six mutations were observed, with an average overall rate of 3.86 x 10-3 per locus. A haplotype with a duplicated DYS389I locus, and another with duplicated DYS389I, DYS389II, and DYS439 loci were detected in both fathers and their respective sons.

  10. Emergent HIV-1 Drug Resistance Mutations Were Not Present at Low-Frequency at Baseline in Non-Nucleoside Reverse Transcriptase Inhibitor-Treated Subjects in the STaR Study.

    Science.gov (United States)

    Porter, Danielle P; Daeumer, Martin; Thielen, Alexander; Chang, Silvia; Martin, Ross; Cohen, Cal; Miller, Michael D; White, Kirsten L

    2015-12-01

    At Week 96 of the Single-Tablet Regimen (STaR) study, more treatment-naïve subjects that received rilpivirine/emtricitabine/tenofovir DF (RPV/FTC/TDF) developed resistance mutations compared to those treated with efavirenz (EFV)/FTC/TDF by population sequencing. Furthermore, more RPV/FTC/TDF-treated subjects with baseline HIV-1 RNA >100,000 copies/mL developed resistance compared to subjects with baseline HIV-1 RNA ≤100,000 copies/mL. Here, deep sequencing was utilized to assess the presence of pre-existing low-frequency variants in subjects with and without resistance development in the STaR study. Deep sequencing (Illumina MiSeq) was performed on baseline and virologic failure samples for all subjects analyzed for resistance by population sequencing during the clinical study (n = 33), as well as baseline samples from control subjects with virologic response (n = 118). Primary NRTI or NNRTI drug resistance mutations present at low frequency (≥2% to 20%) were detected in 6.6% of baseline samples by deep sequencing, all of which occurred in control subjects. Deep sequencing results were generally consistent with population sequencing but detected additional primary NNRTI and NRTI resistance mutations at virologic failure in seven samples. HIV-1 drug resistance mutations emerging while on RPV/FTC/TDF or EFV/FTC/TDF treatment were not present at low frequency at baseline in the STaR study. PMID:26690199

  11. A molecular platform for the diagnosis of multidrug-resistant and pre-extensively drug-resistant tuberculosis based on single nucleotide polymorphism mutations present in Colombian isolates of Mycobacterium tuberculosis

    Science.gov (United States)

    Martínez, Luz Maira Wintaco; Castro, Gloria Puerto; Guerrero, Martha Inírida

    2016-01-01

    Developing a fast, inexpensive, and specific test that reflects the mutations present in Mycobacterium tuberculosis isolates according to geographic region is the main challenge for drug-resistant tuberculosis (TB) control. The objective of this study was to develop a molecular platform to make a rapid diagnosis of multidrug-resistant (MDR) and extensively drug-resistant TB based on single nucleotide polymorphism (SNP) mutations present in therpoB, katG, inhA,ahpC, and gyrA genes from Colombian M. tuberculosis isolates. The amplification and sequencing of each target gene was performed. Capture oligonucleotides, which were tested before being used with isolates to assess the performance, were designed for wild type and mutated codons, and the platform was standardised based on the reverse hybridisation principle. This method was tested on DNA samples extracted from clinical isolates from 160 Colombian patients who were previously phenotypically and genotypically characterised as having susceptible or MDR M. tuberculosis. For our method, the kappa index of the sequencing results was 0,966, 0,825, 0,766, 0,740, and 0,625 forrpoB, katG, inhA,ahpC, and gyrA, respectively. Sensitivity and specificity were ranked between 90-100% compared with those of phenotypic drug susceptibility testing. Our assay helps to pave the way for implementation locally and for specifically adapted methods that can simultaneously detect drug resistance mutations to first and second-line drugs within a few hours. PMID:26841047

  12. Emergent HIV-1 Drug Resistance Mutations Were Not Present at Low-Frequency at Baseline in Non-Nucleoside Reverse Transcriptase Inhibitor-Treated Subjects in the STaR Study

    Directory of Open Access Journals (Sweden)

    Danielle P. Porter

    2015-12-01

    Full Text Available At Week 96 of the Single-Tablet Regimen (STaR study, more treatment-naïve subjects that received rilpivirine/emtricitabine/tenofovir DF (RPV/FTC/TDF developed resistance mutations compared to those treated with efavirenz (EFV/FTC/TDF by population sequencing. Furthermore, more RPV/FTC/TDF-treated subjects with baseline HIV-1 RNA >100,000 copies/mL developed resistance compared to subjects with baseline HIV-1 RNA ≤100,000 copies/mL. Here, deep sequencing was utilized to assess the presence of pre-existing low-frequency variants in subjects with and without resistance development in the STaR study. Deep sequencing (Illumina MiSeq was performed on baseline and virologic failure samples for all subjects analyzed for resistance by population sequencing during the clinical study (n = 33, as well as baseline samples from control subjects with virologic response (n = 118. Primary NRTI or NNRTI drug resistance mutations present at low frequency (≥2% to 20% were detected in 6.6% of baseline samples by deep sequencing, all of which occurred in control subjects. Deep sequencing results were generally consistent with population sequencing but detected additional primary NNRTI and NRTI resistance mutations at virologic failure in seven samples. HIV-1 drug resistance mutations emerging while on RPV/FTC/TDF or EFV/FTC/TDF treatment were not present at low frequency at baseline in the STaR study.

  13. Eand P opportunities in Brazil

    Energy Technology Data Exchange (ETDEWEB)

    Castilho, Marcelo [National Petroleum Agency of Brasil (Brazil)

    2011-07-01

    Brazil is one of the world's largest economies and the country also has significant heavy oil reserves. This report from the National Petroleum Agency of Brazil aims at presenting the situation of the oil and gas sector in Brazil in terms of resources, production, regulatory framework and opportunities for the future. Brazil has numerous sedimentary basins at its disposal, most of them being prospected by both national and foreign companies from all over the world. Brazil has over 14 billion barrels of proven reserves, its production is 2,1 MMBbl/d and heavy oil represents almost 40% of that production. The National Petroleum Agency of Brazil is responsible for the implementation of oil sector policy with the aims of maintaining self-sufficiency, implementing good practices in terms of health and safety, and increasing local content. This paper pointed out that Brazil has an important opportunity to enhance its energy sector through the development of heavy oil.

  14. Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention

    DEFF Research Database (Denmark)

    Meur, Gargi; Simon, Albane; Harun, Nasret;

    2009-01-01

    the molecular mechanisms involved. RESEARCH DESIGN AND METHODS: The INS gene was sequenced in 16 French probands with unexplained MODY, 95 patients with nonautoimmune early-onset diabetes (diagnosed at insulin mutants were...... quantitated by real-time PCR. RESULTS: A novel coding mutation, L30M, potentially affecting insulin multimerization, was identified in five diabetic individuals (diabetes onset 17-36 years) in a single family. L30M preproinsulin-GFP fluorescence largely associated with the endoplasmic reticulum (ER) in MIN6...

  15. Focus on Brazil

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1988-11-01

    Brazil, the largest country in South America with a population of almost 140 million, has been plagued since the early 1980s by high foreign debt (approximately US$121 billion at present) and hyperinflation (nearly 600 percent over the past 12 months). These factors, in combination with the slower than anticipated growth in electricity demand, have been instrumental in curtailing nuclear power development in the country. Following recommendations advanced in a commissioned study for improving Brazil`s nuclear program, Brazilian President Jose Sarney announced on August 31st the restructuring of the country`s nuclear industry.

  16. Hemoglobin (Hb) Val de Marne (Hb Footscray) in Brazil: the first case report.

    Science.gov (United States)

    Okumura, J V; Shimauti, E L T; Silva, D G H; Torres, L S; Belini-Junior, E; Oliveira, R G; Patussi, E V; Herrero, J C M; Bonini-Domingos, C R

    2016-01-01

    Hemoglobin (Hb) variants involving alpha-chains are less common in the global population than Hb variants resulting from beta-chain alterations. Generally, alpha-chain Hb variants are caused by point mutations affecting alpha-1 and/or alpha-2 genes of the alpha-globin cluster (HBA1 and HBA2). In Brazil, the most prevalent alpha-chain Hb variant is Hb Hasharon. In this study, we present the first case of an Hb Val de Marne variant in the Americas, specifically in Brazil. PMID:27421014

  17. Persistent Müllerian Duct Syndrome Caused by a Novel Mutation of an Anti-MüIlerian Hormone Receptor Gene: Case Presentation and Literature Review.

    Science.gov (United States)

    Elias-Assad, Ghadir; Elias, Marwan; Kanety, Hannah; Pressman, Asher; Tenenbaum-Rakover, Yardena

    2016-06-01

    Persistent Müllerian duct syndrome (PMDS) is a rare genetic disorder of male internal sexual development defined as lack of regression of Müllerian derivatives in the 46XY male with normally virilized external genitalia and unilateral or bilateral cryptorchidism. Approximately 85% of all cases are caused by mutations in genes encoding anti-Müllerian hormone (AMH) or its receptor (AMHR2) with autosomal recessive transmission. This condition is frequently diagnosed incidentally, during surgical repair of inguinal hernia or cryptorchidism. There is no consensus on surgical approach: malignancy risk in the Müllerian duct remnant or undescended testis encourages early removal of the former and bilateral orchiopexy; however, removal of Müllerian structures can impair testicular and vas deferens blood supply, potentially causing infertility. Herein, we report on a male infant with PMDS caused by a novel homozygous missense mutation in AMHR2 (c.928C>T; p.Q310X), review the literature, and discuss the diverse clinical and surgical approaches to this condition. PMID:27464416

  18. Nuclear material control in Brazil

    International Nuclear Information System (INIS)

    A general view about the safeguards activities in Brazil is presented. The national system of accounting for and control of nuclear materials is described. The safeguards agreements signed by Brazil are presented, the facilities and nuclear material under these agreements are listed, and the dificulties on the pratical implementation are discussed. (E.G.)

  19. Audit Quality in Brazil: A Study of the Judgment of the Independent Auditors on Adoption of the Adjustment to Present Value in Construction and Engineering Companies Listed on BM&F-Bovespa

    Directory of Open Access Journals (Sweden)

    Felipe da Silva Moreira

    2015-04-01

    Full Text Available Audit quality is a complex issue and difficult to measure on the audit quality level in the Brazilian stock exchange. Most of the companies listed on the on the stock exchange are audited by companies called the Big Four and in this context, the market assigns to them pretext of higher quality in their performances when compared with the non-Big Four companies. In Brazil, recent financial scandals while international accounting and auditing standards were been adopted. This provides an opportunity to analyze the adequacy of audit services to the convergence process. Given the scenario, the problem arises: Have the audit firms uniform quality, based on the technical criteria of their judgment when the proper adoption of CPC 12 – adjustment to present value by Brazilian listed companies? The objective of this study is to investigate the uniformity in the quality of services performed by audit firms in Brazil about Brazilian listed companies based on adoption to CVM deliberation number 564/08. This paper consists on the analysis of the accounting reports, reference form and the Auditors of the companies of the construction and engineering sector in years 2010 and 2011, revealing among its main findings the absence of uniform quality in the independent auditor’s report based on the adoption to the adjustment to present value.

  20. Use of mutation techniques for improvement of cereals in Latin America. Final reports of a co-ordinated research programme

    International Nuclear Information System (INIS)

    This publication presents the scientific results obtained under the FAO/IAEA Co-ordinated Research Programme on Improvement of Cereals in Latin America through Mutation Breeding. Some of the selected mutants were already tested in multilocation trials and had higher yields and/or other advantages, in comparison with the leading local varieties. On the basis of these results it it expected that a few new mutant varieties of rice (Brazil, Costa Rica, Cuba, Guatemala), wheat (Brazil, Chile) and barley (Peru) will be officially released within the next few years. Still more mutants, which are valuable for conventional breeding programmes as new sources of desired genes, were selected. Refs, figs and tabs

  1. Detection of microsatellite instability but not truncating APC mutations in gastric adenocarcinomas in Brazilian patients

    Directory of Open Access Journals (Sweden)

    Bevilacqua Roberta A.U.

    2000-01-01

    Full Text Available A crucial role for the adenomatous polyposis colonic (APC gene in colorectal carcinogenesis has been conclusively established, but, the role of APC in gastric tumors remains controversial. APC mutations have been detected at a relatively high frequency in gastric tumors of Japanese patients, yet such mutations have been reported to be extremely rare in British patients and patients from north-central-Italy. We here report the analysis of 40 primary sporadic gastric adenocarcinomas and 35 primary sporadic colon adenocarcinomas (from patients resident in São Paulo, Brazil, for mutations in the APC gene between codons 686 and 1693 using the protein truncation test. Although 19 truncating mutations were detected in 35 colon adenocarcinomas (54.2% none were found in any of the gastric adenocarcinomas. As an internal control the tumor samples were also evaluated for microsatellite alterations, which are also common features of both tumor types. Microsatellite instability was present in 1 colon and 7 gastric tumor samples. This suggests that in relation to APC mutations gastric adenocarcinomas from Brazilian patients are similar to those that occur in Europe, and support a fundamental difference both between gastric carcinomas that occur in different geographical regions and between the molecular etiology of gastric and colorectal adenocarcinomas occurring in São Paulo, Brazil.

  2. Brazil, China, US: a triangular relation?

    Directory of Open Access Journals (Sweden)

    José-Augusto Guilhon-Albuquerque

    2014-01-01

    Full Text Available This article is divided in three sections. The first one explores the so-called "strategic partnership" between Brazil and China. In the second section we shall examine how US-China relations in the global system could affect both Brazil-US, and Brazil-China bilateral relations. A final section presents some recommendations for Brazil strategic orientations regarding the current systemic transition in the allotment of global power.

  3. Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene

    Directory of Open Access Journals (Sweden)

    Huang Nancy

    2001-01-01

    Full Text Available Creutzfeldt-Jakob disease (CJD, the most known human prion disease, is usually sporadic but approximately 15% of the cases are familial. To date, seven CJD cases with codon 210 mutation (GTT to ATT have been reported in the literature. We describe a case of a 57 year-old woman who presented gait disturbances and rapidly progressive dementia, leading to death four months after onset. Electroencephalogram revealed periodic activity, diffusion-weighted magnetic resonance imaging showed hypersignal in basal ganglia, and test for 14-3-3 protein was strongly positive in the CSF. The complete prion protein gene coding region was sequenced after PCR amplification, showing a point mutation in codon 210. This is the first case of CJD with codon 210 mutation diagnosed in Brazil. We emphasize the role of genetic search for prion protein gene mutation, even in patients presenting clinical features resembling sporadic CJD.

  4. Measurement of ampere-hour for small consumers in Brazil: present status and trends; Medicao de ampere-hora para pequenos consumidores no Brasil: estado atual e perspectivas

    Energy Technology Data Exchange (ETDEWEB)

    Alves Junior, J.E.R.; Lippincott, M.; Caldas, R.P.; Costa, R.S. de; Alvarenga, L.M.; Loureiro, M.R.B.; Luiz, F.C. [Centro de Pesquisas de Energia Eletrica, Rio de Janeiro, RJ (Brazil). E-mail: alves@cepel.br; Santos, C.; Araujo, P. [Centrais Eletricas de Pernambuco (CELPE), Recife, PE (Brazil); Pinho, A. [Centrais Eletricas do Para (CELPA), Belem, PA (Brazil); Marcondes, P. [Daruma Telecomunicacoes e Informatica S.A., Sao Paulo, SP (Brazil); Vidal, J.C.M. [APEL Aplicacoes Eletronicas Industria e Comercio Ltda., Campina Grande, PB (Brazil); Peyro, R.J. [Telematica, Sao Paulo, SP (Brazil)

    1999-07-01

    This paper presents a description of the ampere-hour meter developed with the CEPEL technology. This meter aims to the economic optimization of the measurement and invoicing or the small scale consumer electric power consumption. The paper presents the description, the technical and construction characteristics, the invoicing system and the using by the electric power utilities.

  5. Genomic profile of a Li-Fraumeni-like syndrome patient with a 45,X/46,XX karyotype, presenting neither mutations in TP53 nor clinical stigmata of Turner syndrome.

    Science.gov (United States)

    Basso, Tatiane R; Villacis, Rolando A R; Canto, Luisa M; Alves, Vinicius M F; Lapa, Rainer M L; Nóbrega, Amanda F; Achatz, Maria I; Rogatto, Silvia R

    2015-06-01

    Li-Fraumeni syndrome (LFS) is a hereditary disorder that predisposes patients to several types of cancer and is associated with TP53 germline mutations. Turner syndrome (TS) is one of the most common aneuploidies in women. Patients with TS have a higher risk of developing cancer, although multiple malignant tumors are extremely rare. Herein, we describe a patient with a 45,X/46,XX karyotype with no classic phenotype of TS. She presented with a clinical diagnosis of Li-Fraumeni-like syndrome (LFL), showing papillary thyroid carcinoma and fibrosarcoma of the left flank, and had no TP53 germline mutations. Genome-wide analysis of copy number variations (CNVs) was assessed in DNA from peripheral blood cells and saliva. A total of 109 rare CNVs in the blood cells, including mosaic loss of the X chromosome (76% of cells), were identified. In saliva, three rare CNVs were detected, all of them were also detected in the blood cells: loss of 8q24.11 (EXT1), gain of 16q24.3 (PRDM7 and GAS8), and the mosaic loss of the X chromosome (50% of cells). Results of conventional G-banding confirmed the 45,X/46,XX karyotype. Surprisingly, the patient presented with an apparently normal phenotype. The PRDM and GAS8 genes are potential candidates to be associated with the risk of developing cancer in this LFL/TS patient.

  6. Novel GAA mutations in patients with Pompe disease.

    Science.gov (United States)

    Turaça, Lauro Thiago; de Faria, Douglas Oliveira Soares; Kyosen, Sandra Obikawa; Teixeira, Valber Dias; Motta, Fabiana Louise; Pessoa, Juliana Gilbert; Rodrigues E Silva, Marina; de Almeida, Sandro Soares; D'Almeida, Vânia; Munoz Rojas, Maria Verônica; Martins, Ana Maria; Pesquero, João Bosco

    2015-04-25

    Pompe disease is an autosomal recessive disorder linked to GAA gene that leads to a multi-system intralysosomal accumulation of glycogen. Mutation identification in the GAA gene can be very important for early diagnosis, correlation between genotype-phenotype and therapeutic intervention. For this purpose, peripheral blood from 57 individuals susceptible to Pompe disease was collected and all exons of GAA gene were amplified; the sequences and the mutations were analyzed in silico to predict possible impact on the structure and function of the human protein. In this study, 46 individuals presented 33 alterations in the GAA gene sequence, among which five (c.547-67C>G, c.547-39T>G, p.R437H, p.L641V and p.L705P) have not been previously described in the literature. The alterations in the coding region included 15 missense mutations, three nonsense mutations and one deletion. One insertion and other 13 single base changes were found in the non-coding region. The mutation p.G611D was found in homozygosis in a one-year-old child, who presented low levels of GAA activity, hypotonia and hypertrophic cardiomyopathy. Two patients presented the new mutation p.L705P in association with c.-32-13T>G. They had low levels of GAA activity and developed late onset Pompe disease. In our study, we observed alterations in the GAA gene originating from Asians, African-Americans and Caucasians, highlighting the high heterogeneity of the Brazilian population. Considering that Pompe disease studies are not very common in Brazil, this study will help to better understand the potential pathogenic role of each change in the GAA gene. Furthermore, a precise and early molecular analysis improves genetic counseling besides allowing for a more efficient treatment in potential candidates.

  7. Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil.

    Directory of Open Access Journals (Sweden)

    Mônica Barbosa de Melo

    Full Text Available Primary congenital glaucoma (PCG, occurs due to the developmental defects in the trabecular meshwork and anterior chamber angle in children. PCG exhibits genetic heterogeneity and the CYP1B1 gene has been widely implicated worldwide. Despite the diverse mutation spectra, the clinical implications of these mutations are yet unclear. The present study attempted to delineate the clinical profile of PCG in the background of CYP1B1 mutations from a large cohort of 901 subjects from India (n=601 and Brazil (n=300.Genotype-phenotype correlations was undertaken on clinically well characterized PCG cases from India (n=301 and Brazil (n=150 to assess the contributions of CYP1B1 mutation on a set of demographic and clinical parameters. The demographic (gender, and history of consanguinity and quantitative clinical (presenting intraocular pressure [IOP] and corneal diameter [CD] parameters were considered as binary and continuous variables, respectively, for PCG patients in the background of the overall mutation spectra and also with respect to the prevalent mutations in India (R368H and Brazil (4340delG. All these variables were fitted in a multivariate logistic regression model using the Akaike Information Criterion (AIC to estimate the adjusted odds ratio (OR using the R software (version 2.14.1.The overall mutation spectrum were similar across the Indian and Brazilian PCG cases, despite significantly higher number of homozygous mutations in the former (p=0.024 and compound heterozygous mutations in the later (p=0.012. A wide allelic heterogeneity was observed and only 6 mutations were infrequently shared between these two populations. The adjusted ORs for the binary (demographic and continuous (clinical variables did not indicate any susceptibility to the observed mutations (p>0.05.The present study demonstrated a lack of genotype-phenotype correlation of the demographic and clinical traits to CYP1B1 mutations in PCG at presentation. However, the

  8. Mutações predisponentes à trombofilia em indivíduos de Minas Gerais - Brasil com suspeita clínica de trombose Predisposing thrombophilic mutations in individuals with clinical suspicion of thrombosis from Minas Gerais, Brazil

    Directory of Open Access Journals (Sweden)

    Sabrina P. Guimarães

    2009-02-01

    Full Text Available A trombose é reconhecidamente uma doença de caráter multifatorial. Sua ocorrência está intimamente relacionada à presença de fatores genéticos e adquiridos que concorrem isoladamente ou em associação para o seu desencadeamento. No entanto, a frequência dos fatores genéticos pode variar de acordo com a origem étnica e com outros aspectos epidemiológicos dos grupos de indivíduos e populações estudadas. No Brasil, dados referentes a indivíduos brasileiros e em especial do estado de Minas Gerais são escassos. O objetivo do presente estudo foi investigar a frequência das mutações fator V Leiden e G20210A no gene protrombina em 1.103 indivíduos com suspeita clínica de trombofilia, empregando a técnica da reação em cadeia da polimerase seguida de restrição enzimática (PCR-RFLP. Os dados foram analisados usando-se o programa Epi Info versão 6.04. A amostra consistiu de 76,16% mulheres e 23,84% homens, com média de idade de 43,06± 14,65. A mutação fator V Leiden foi observada em heterozigose em 7,52% dos indivíduos e em 0,36% em homozigose. A mutação G20210A no gene da protrombina apresentou-se em heterozigose em 5,90% dos indivíduos e em homozigose em 0,18%. O presente trabalho mostra a importância dos testes genéticos conforme o perfil da população analisada, ressaltando informações epidemiológicas da população brasileira e benefícios clínicos.Thrombosis is known to be a multifactorial disease. Its incidence is directly related to the presence of genetic and acquired factors that concur separately or in association to its appearance. However, the frequency of genetic factors can vary according to ethnic background and with other epidemiological aspects of populations. Data from Brazilian individuals and especially those from the State of Minas Gerais are scarce. The present study aims at investigating the frequencies of the factor v Leiden and the G20210G prothrombin gene mutations of 1103 individuals

  9. To self produce black at brazil: a study of the didatic and pedagogical devices present in raça brasil magazine

    Directory of Open Access Journals (Sweden)

    Artur José Renda, Vitorino

    2014-04-01

    Full Text Available As from the teachings of Michel Foucault about self-government, it was made an analysis of the national magazine titled Raça Brasil , whose target audience is the black Brazilian with a view to show the didactic and pedagogical devices present in the magazine. To evaluate this discourse, it was analyzed a set of fifteen magazines which covered the period of January 2000 to May 2001 , where it was choose an edition for research through Foucaultian concepts , comparing the results with the bibliography. It indicated that the Raça Brasil magazine, from the devices dotted throughout the article, intends to model the Brazilian black identity, which has is common among its members the culture and memory called african-Brazilian, proposing thus, in the society, a taxonomy between blacks and whites. In short, was made an effort of the analysis about the discourse and commercials present in the highlighted number , pretending to understand what the magazine sees as "Black Brazilian" and what features, proposed in its discourse, about Brazilian black identity.

  10. The thirty years of the petroleum impact and the Brazil; Os 30 anos do choque do petroleo e o Brasil

    Energy Technology Data Exchange (ETDEWEB)

    Alveal, Carmen

    2007-07-01

    After the stormy thirty years that shacked the political, technical-productive and energetic sceneries, this chapter attempt to find which implications can be observed and which paper can be viewed for the Brazilian evolution on the world economy and energy scenery in the future. This brief reflexions explores the following hypothesis: in the recent decade, the Brazil insertion in the world scenery of productive mutations presents sub utilization of the growing position assumed by his petroleum industry.

  11. Mutation Breeding in Sugarcane

    International Nuclear Information System (INIS)

    The present position of sugar industry particularly cane sugar production in the world has been discussed. The role of African Countries which can contribute more than the present 11% to world cane sugar production is presented. The breeding methods employed in cane growing court-tries indicate the biparental crossing and selection in F1 has been the major method used to develop varieties. Due to cytogenetical peculiarities, thousands of seedlings are grown to select the desirable genotype. Mutations or sports has been a source of variation for selection in nature. Induced mutations have only enhanced the mutation rate and has enabled the plant breeders to get better variation for selection. Though many mutagens have been used gamma rays have been most effective. Induced mutations for nonflowering, spineless leaf-sheath, higher sugar content, yield md resistance to diseases like smut and downy mildew have been reported. The methods of making mutated tissues express itself have been indicated. Mutation breeding holds out promise in sugarcane in that the basic variety or genotype can be kept intact and a few characters changed as desired by the plant breeder provided proper selection methods are employed. (author)

  12. Analysis of technologies for natural gas transportation in Brazil: results comparison of the application of payback and NPV (Net Present Value) methods; Analise de tecnologias de transporte de gas natural no Brasil: comparacao dos resultados da aplicacao dos metodos 'payback' e VPL (Valor Presente Liquido)

    Energy Technology Data Exchange (ETDEWEB)

    Baioco, Juliana Souza; Santarem, Clarissa Andrade [Universidade Federal do Rio de Janeiro (UFRJ), RJ (Brazil). Dept. de Engenharia de Petroleo; Bone, Rosemarie Broeker; Ferreira Filho, Virgilio Jose Martins [Universidade Federal do Rio de Janeiro (UFRJ), RJ (Brazil). Dept. de Engenharia Industrial

    2008-07-01

    The increased demand for natural gas leads to global integration of markets, leading to decisions that cover the various technologies of transportation, noting the specific locations. The transport of natural gas considered more traditional (Liquefied Natural Gas and Pipeline) often unviable economically areas of operation due to cost. In this case, there are alternative technologies to reduce those costs. The article is to compare the technologies of transport, using the methodology of the Net Present Value (VPL) to identify one that has more positive VPL, which is the most profitable. Thus, in search of validate the results of SUBERO et al. (2004) for gas transport by Pipelines, Liquefied Natural Gas and Compressed Natural Gas. In addition, they are compared these results with the method of VPL and with the economic analysis presented in using the payback period of CHANG (2001) and SANTAREM et al. (2007). It was found that the results obtained in Brazil were identical to those obtained by CHANG (2001) and SUBERO et al. (2007), saving only some differences in magnitude due to the specific characteristics of the Brazilian economy. In other words, for the Brazilian case, the technology of Compressed Natural Gas (CNG) was the most economically viable with the method of VPL, followed by technology, Pipeline and Liquefied Natural Gas (LNG), regardless of the interest rates of 10% and 6.5% and periods of 20 and 30 years. The contribution of this work is to show that despite of the method, payback or VPL, the various alternatives for transporting natural gas to Brazil have the same ranking and economic viability. (author)

  13. Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemia

    Directory of Open Access Journals (Sweden)

    David Enrique Aguilar Rodriguez

    2005-01-01

    Full Text Available Fanconi anaemia (FA is a recessive autosomal disease determined by mutations in genes of at least eleven complementation groups, with distinct distributions in different populations. As far as we know, there are no reports regarding the molecular characterisation of the disease in unselected FA patients in Brazil. OBECTIVE: This study aimed to investigate the most prevalent mutations of FANCA and FANCC genes in Brazilian patients with FA. METHODS: Genomic DNA obtained from 22 racially and ethnically diverse unrelated FA patients (mean age ± SD: 14.0 ± 7.8 years; 10 male, 12 female; 14 white, 8 black was analysed by polymerase chain reaction and restriction site assays for identification of FANCA (delta3788-3790 and FANCC (delta322G, IVS4+4A -> T, W22X, L496R, R548X, Q13X, R185X, and L554P gene mutations. RESULTS: Mutations in FANCA and FANCC genes were identified in 6 (27.3% and 14 (63.6% out of 22 patients, respectively. The disease could not be attributed to the tested mutations in the two remaining patients enrolled in the study (9.1%. The registry of the two most prevalent gene abnormalities (delta3788-3790 and IVS4 + 4 -> T revealed that they were present in 18.2% and 15.9% of the FA alleles, respectively. Additional FANCC gene mutations were found in the study, with the following prevalence: delta322G (11.4%, W22X (9.1%, Q13X (2.3%, L554P (2.3%, and R548X (2.3% of total FA alleles. CONCLUSION: These results suggest that mutations of FANCA and FANCC genes are the most prevalent mutations among FA patients in Brazil.

  14. Brazil, oil and statoil: challenges and opportunities

    OpenAIRE

    Linchausen, Harald Christoffer

    2010-01-01

    This thesis aims to shed some light on what challenges Brazil faces concerning its oil reserves. It also considers Statoil’s situation and attempts to analyse the challenges both face. Hotelling’s rule and Dunning’s OLI framework are presented and used in order to complete this analysis. The thesis starts by looking at the history of petroleum in Brazil and Norway. Next, the theoretical framework is outlined. The challenges for both Brazil and Statoil are presented and anal...

  15. Mutations induced in plant breeding

    Energy Technology Data Exchange (ETDEWEB)

    Barriga B, P. (Universidad Austral de Chile, Valdivia. Inst. de Produccion y Sanidad Vegetal)

    1984-10-01

    The most significant aspects of the use of ionizing radiations in plant breeding are reviewed. Aspects such as basic principles of mutation, expression and selection in obtention of mutants, methods for using induced mutations and sucess achieved with this methodology in plant breeding are reviewed. Results obtained in a program of induced mutation on wheat for high content of protein and lysine at the Universidad Austral de Chile are presented.

  16. The Espinharas uranium occurrence, Brazil

    International Nuclear Information System (INIS)

    Nuclam has been exploring for uranium in Brazil since 1976. During this period one uranium ore body has been found in the vicinity of Espinharas, a village in Paraiba State, northeast Brazil. According to present knowledge, the mineralized ore body is caused by metasomatic action. The history of discovery and the exploration work until the end of 1979 is given, showing the conceptual change with increasing knowledge of the mineralized zone. (author)

  17. NEWS:Introduction of Brazil upland rice in China

    Institute of Scientific and Technical Information of China (English)

    LINantian

    1998-01-01

    In 1992, the government of Brazil presented nine crop varieties to China. One of them is Brazil upland rice IAPAR9. It was evaluated for commercial usage in China by China National Rice Research Institute (CNRRI).

  18. Corruption - Can Brazil win this war?

    OpenAIRE

    Washington de Queiroz, Jorge

    2015-01-01

    Corruption in Brazil is endemic and has increased since the end of the military transition regime in 1985, a year marked by an indirect presidential election, which was followed by the 1988 Constitutional Reform. The present thesis answers the research question of how corruption affects well-being in Brazil" by investigating the existing cause-effect relationships and complex dynamics and logic between corruption and related variables in Brazil, with each of the twenty-s...

  19. Determination of the equivalent doses due to the ingestion of radionuclides from the uranium and thorium series presents in drinking waters of the region of Santa Luzia, Paraiba state, Brazil

    International Nuclear Information System (INIS)

    This paper determined the original dose equivalents from radionuclides of uranium and thorium series in a drinking water of well which is supplied to the population of Santa Luzia, Paraiba state, Brazil. The collected waters are near to the mineralized phlegmatic bodies in rose quartz and amazonite feldspar. Radiometric measurements performed on the feldspar vein point out counting ratios surrounding 30000 cps and the analysis of collected samples of minerals presented tenors for the 226Ra and 219Pb varying from 0.50 to 2.30 Bq/sw. For determination of concentration of radionuclides UTotal, 226Ra, 228Ra and 219Pb, found in the not desalinated, two methods were used, spectrophotometry with arsenazo and radiochemistry, both realized in the CNEN-LAPOC laboratories. For the calculation of dose equivalent it was taken into consideration the following parameters: the dose coefficients for incorporation by ingestion for public individuals with ages over 17 years (Norma CNEN-NN-3.01, Regulatory Position 3.01/011) and daily ingestion of 4 liters of water, which is over the recommended by the WHO of 2L/day - 1993. The obtained values were compared with the reference value for compromised dose equivalent established by WHO for evaluate the risk potential to the health of population, by ingestion. The radionuclide concentrations in the wells varies from 0.054 to 0.21 Bq/L, resulting dose equivalents of 3.94 x 10-3 mSv/year and 0.17 mSv/year in the studied population

  20. Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene

    Directory of Open Access Journals (Sweden)

    Shigeru Makino

    2014-01-01

    Full Text Available An 8-year-old Japanese boy presented with a generalized convulsion. He had hypokalemia (serum K 2.4 mEq/L, hypomagnesemia, and metabolic alkalosis (BE 5.7 mmol/L. In addition, his plasma renin activity was elevated. He was tentatively diagnosed with epilepsy on the basis of the electroencephalogram findings and was treated by potassium L-aspartate and carbamazepine to control the hypokalemia and seizure, respectively. However, a year later, the patient continued to have similar abnormal laboratory data. A presumptive diagnosis of Gitelman syndrome (GS was then made and the patient’s peripheral blood mononuclear cells were subjected to sequence analysis of the SLC12A3 gene, which encodes a thiazide-sensitive sodium-chloride cotransporter. The patient was found to have compound heterozygous mutations, namely, R642H inherited from his father and R642W inherited from his mother. Thus, if a patient shows persistent hypokalemia and metabolic alkalosis, GS must be considered, even if the patient exhibits atypical clinical symptoms.

  1. MUTATIONS IN CALMODULIN GENES

    DEFF Research Database (Denmark)

    2013-01-01

    The present invention relates to an isolated polynucleotide encoding at least a part of calmodulin and an isolated polypeptide comprising at least a part of a calmodulin protein, wherein the polynucleotide and the polypeptide comprise at least one mutation associated with a cardiac disorder. The ...... the binding of calmodulin to ryanodine receptor 2 and use of such compound in a treatment of an individual having a cardiac disorder. The invention further provides a kit that can be used to detect specific mutations in calmodulin encoding genes....

  2. The present Situation and Problems of Brazil mushroom Industry Development in Honghe Prefecture%红河州巴西蘑菇产业发展现状及存在问题

    Institute of Scientific and Technical Information of China (English)

    周浩; 毛维艳; 白建波

    2016-01-01

    红河州自2009年引进巴西蘑菇种植,现已形成一定规模,成为云南省最大的巴西蘑菇生产地。文章通过实地考察、问卷等方式对红河州内巴西蘑菇种植基地及相关从业者进行调查,结果表明:红河州巴西蘑菇的种植已初具规模,2014年全州年产巴西蘑菇产量突破5000吨,产值突破5000万元,给当地农民带来较好的经济效益,但存在种植技术水平低,单位面积产量低、技术水平各地不均一等问题。最后,笔者从研究合作、技术培训、政策引导和市场营销等方面对红河州巴西蘑菇的发展给出了建议。%Honghe introducted the cultivation of Brazil mushroom since 2009, and it has now formed a certain scale, and Honghe has been the largest production area of Brazil mushroom in yunnan province.In this paper, through on-the-spot investigation, questionnaire and so on ,the author investigated Brazil mushroom planting base and the Brazil mushroom planter in honghe Prefecture. The results showed that: the cultivation of Brazil mushroom in Honghe has begun to take shape, the Brazil mushroom production has exceeded 5000 tons in 2014, the production value has exceeded 50 million yuan,and it has brought good economic benefits to local farmers,but there are still many problems such as low level Planting technology and low yield of per unit area and the unequal level of the technology in different regions and so on.In the end,the author gave suggestions to the Brazil mushroom inductry development in Honghe from research collaboration and technical training and policy guidance and marketing and so on.

  3. TP53 mutations as biomarkers for cancer epidemiology in Latin America: current knowledge and perspectives.

    Science.gov (United States)

    de Moura Gallo, Claudia Vitória; Azevedo E Silva Mendonça, Gulnar; de Moraes, Emanuela; Olivier, Magali; Hainaut, Pierre

    2005-05-01

    Due to particular social and economical development, and to the impact of globalization of lifestyles, Latin America shows a superposition of cancers that are frequent in low resource countries (gastric, oesophageal squamous cell and cervical cancers) and high resource countries (cancers of breast, colon and rectum, lung and prostate). Latin America thus offers opportunities for investigating the impact on changing lifestyle patterns on the occurrence of cancer. At the molecular level, mutations in the tumor suppressor gene TP53 are common in many cancers and their distribution can be informative of the nature of the mutagenic mechanisms, thus giving clues to cancer etiology and molecular pathogenesis. However most of the data available are derived from studies in industrialized countries. In this review, we discuss current trends on cancer occurrence in Latin American countries, and we review the literature available on TP53 mutations and polymorphisms in patients from Latin America. Overall, a total of 285 mutations have been described in 1213 patients in 20 publications, representing 1.5% of the total number of mutations reported world-wide. Except for hematological cancers, TP53 mutation frequencies are similar to those reported in other regions of the world. The only tumor site presenting significant differences in mutation pattern as compared to other parts of the world is colon and rectum. However, this difference is based on a single study with 35 patients. Recently, a characteristic TP53 mutation at codon 337 (R337H) has been identified in the germline of children with adrenocortical carcinoma in Southern Brazil. Further and better focused analyses of TP53 mutation patterns in the context of epidemiological studies, should help to improve our understanding of cancer etiology in order to develop appropriate health policies and public health programs in Latin America. PMID:15878142

  4. A new species of Fernandezina (Araneae, Palpimanidae from southern Brazil

    Directory of Open Access Journals (Sweden)

    Ricardo Ott

    2014-12-01

    Full Text Available A new species of Fernandezina Birabén, 1951, F. nica sp. nov. is described from Rio Grande do Sul state, in southern Brazil. Fernandezina pulchra Birabén, 1951, is registered for Brazil and a new geographic record in Brazil is presented for F. pelta Platnick, 1975.

  5. Prevalent mutations in fatty acid oxidation disorders

    DEFF Research Database (Denmark)

    Gregersen, N; Andresen, B S; Bross, P

    2000-01-01

    UNLABELLED: The mutational spectrum in a given disease-associated gene is often comprised of a large number of different mutations, of which a single or a few are present in a large proportion of diseased individuals. Such prevalent mutations are known in four genes of the fatty acid oxidation...... carrying the prevalent 985A > G mutation are at risk of developing life-threatening attacks. In SCAD/ethylmalonic aciduria, on the other hand, the presence of the prevalent susceptibility variations, 625A and 511T, in the SCAD gene seems to require additional genetic and cellular factors to be present...... in order to result in a phenotype. For the prevalent mutations in the LCHAD and CPT II genes further data are needed to evaluate the penetrance and risk of manifest disease when carrying these mutations. CONCLUSION: Assessment of the prevalence of a prevalent mutation in the mutation spectrum...

  6. Brazil Low Carbon Case Study : Waste

    OpenAIRE

    World Bank

    2010-01-01

    This report synthesis the findings for the waste sector of a broader study, the Brazil low carbon study, which was undertaken by the World Bank in its initiative to support Brazil's integrated effort towards reducing national and global emissions of Greenhouse Gases (GHG) while promoting long term development. The purpose of the present report is to assist in the preparation of public poli...

  7. Popular Documentation and Communication Centres in Brazil.

    Science.gov (United States)

    Cardoso, Ana Maria P.

    1993-01-01

    Presents a study of the popular documentation and communication centers in Brazil which have developed to preserve the history of the struggles of the lower classes and to act as popular information services that fill information needs not met by traditional libraries. Social, economic, and political issues in Brazil are outlined. (Contains 10…

  8. Mutation breeding newsletter. No. 12

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  9. Dynamical Mutation of Dark Energy

    CERN Document Server

    Abramo, L R; Liberato, L; Rosenfeld, R

    2007-01-01

    We discuss the intriguing possibility that dark energy may change its equation of state in situations where large dark energy fluctuations are present. We show indications of this dynamical mutation in some generic models of dark energy.

  10. Mutation breeding newsletter. No. 4

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  11. Mutation breeding newsletter. No. 3

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  12. Mutation breeding newsletter. No. 11

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  13. Mutation breeding newsletter. No. 23

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  14. Mutation breeding newsletter. No. 30

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  15. Mutation breeding newsletter. No. 29

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  16. Mutation breeding newsletter. No. 26

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  17. Mutation breeding newsletter. No. 2

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  18. Mutation breeding newsletter. No. 8

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  19. Mutation breeding newsletter. No. 16

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  20. Mutation breeding newsletter. No. 32

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  1. Mutation breeding newsletter. No. 15

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  2. Mutation breeding newsletter. No. 7

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  3. Mutation breeding newsletter. No. 5

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  4. Mutation breeding newsletter. No. 28

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  5. Mutation breeding newsletter. No. 17

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  6. Mutation breeding newsletter. No. 24

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  7. Mutation breeding newsletter. No. 10

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  8. Mutation breeding newsletter. No. 9

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  9. Mutation breeding newsletter. No. 14

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  10. Mutation breeding newsletter. No. 25

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  11. Mutation breeding newsletter. No. 27

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  12. Mutation breeding newsletter. No. 22

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  13. Mutation breeding newsletter. No. 13

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  14. Mutation breeding newsletter. No. 18

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  15. Mutation breeding newsletter. No. 31

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  16. Mutation breeding newsletter. No. 36

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents abstracts and short communications of research results on radiation and chemical induced mutation breeding projects. Positive traits such as disease resistance and increased productivity are highlighted

  17. Mutation breeding newsletter. No. 19

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  18. Mutation breeding newsletter. No. 34

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents abstracts and short communications of research results on radiation and chemical induced mutation breeding projects. Positive traits such as disease resistance and increased productivity are highlighted

  19. Mutation breeding newsletter. No. 44

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents research reports on the role of radiation induced mutation and chemical mutagens in improving productivity, disease resistance; cold and salinity tolerance of various crops and ornamental plants

  20. Oral health policies in Brazil

    Directory of Open Access Journals (Sweden)

    Gilberto Alfredo Pucca Junior

    2009-06-01

    Full Text Available Since Oral Health policies in Brazil have been constructed according to circumstances and possibilities, they should be understood within a given context. The present analysis contextualizes several issues of the Brazilian Oral Health Policy, called "Smiling Brazil", and describes its present stage of development. Today it involves re-organizing basic oral health care by deploying Oral Health Teams within the Family Health strategy, setting up Centers of Dental Specialists within an Oral Health network as a secondary care measure, setting up Regional Laboratories of Dental Prosthesis and a more extensive fluoridation of the public water supply.

  1. Manual on mutation breeding. 2. ed.

    International Nuclear Information System (INIS)

    The manual is a compilation of work done on the use of induced mutations in plant breeding, and presents general methods and techniques in this field. The use of chemical mutagens and ionizing radiations (X-rays, gamma rays, α- and β-particles, protons, neutrons) are described as well as the effects of these mutagens. The different types of mutations achieved can be divided into genome mutations, chromosome mutations and extra nuclear mutations. Separate chapters deal with mutation techniques in breeding seed-propagated species and asexually propagated plants (examples of development of cultivars given). Plant characters which can be improved by mutation breeding include yield, ripening time, growth habit, disease resistance and tolerance to environmental factors (temperature, salinity etc.). The use of mutagens for some specific plant breeding problems is discussed and attention is also paid to somatic cell genetics in connection with induced mutations. The manual contains a comprehensive bibliography (60 p. references) and a subject index

  2. Determination of the equivalent doses due to the ingestion of radionuclides from the uranium and thorium series presents in drinking waters of the region of Santa Luzia, Paraiba state, Brazil; Determinacao das doses equivalentes devido a ingestao de radionuclideos das series do uranio e torio presentes em aguas de consumo do municipio de Santa Luzia, estado da Paraiba

    Energy Technology Data Exchange (ETDEWEB)

    Pastura, Valeria F. da S., E-mail: vpastura@cnen.gov.b [Comissao Nacional de Energia Nuclear (DRSN/CNEN), Rio de Janeiro, RJ (Brazil). Diretoria de Radioprotecao e Seguranca Nuclear. Coordenacao de Materias Primas e Minerais; Campos, Thomas F. da C.; Petta, Reinaldo A., E-mail: thomascampos@geologia.ufrn.b, E-mail: petta@geologia.ufrn.b [Universidade Federal do Rio Grande do Norte (LARANA/UFRN), Natal, RN (Brazil). Lab. de Radioatividade Natural

    2011-10-26

    This paper determined the original dose equivalents from radionuclides of uranium and thorium series in a drinking water of well which is supplied to the population of Santa Luzia, Paraiba state, Brazil. The collected waters are near to the mineralized phlegmatic bodies in rose quartz and amazonite feldspar. Radiometric measurements performed on the feldspar vein point out counting ratios surrounding 30000 cps and the analysis of collected samples of minerals presented tenors for the {sup 226}Ra and {sup 219}Pb varying from 0.50 to 2.30 Bq/sw. For determination of concentration of radionuclides U{sub Total}, {sup 226}Ra, {sup 228}Ra and {sup 219}Pb, found in the not desalinated, two methods were used, spectrophotometry with arsenazo and radiochemistry, both realized in the CNEN-LAPOC laboratories. For the calculation of dose equivalent it was taken into consideration the following parameters: the dose coefficients for incorporation by ingestion for public individuals with ages over 17 years (Norma CNEN-NN-3.01, Regulatory Position 3.01/011) and daily ingestion of 4 liters of water, which is over the recommended by the WHO of 2L/day - 1993. The obtained values were compared with the reference value for compromised dose equivalent established by WHO for evaluate the risk potential to the health of population, by ingestion. The radionuclide concentrations in the wells varies from 0.054 to 0.21 Bq/L, resulting dose equivalents of 3.94 x 10{sup -3} mSv/year and 0.17 mSv/year in the studied population

  3. Islam in Brazil or the Islam of Brazil?

    Directory of Open Access Journals (Sweden)

    Vitória Peres de Oliveira

    2006-01-01

    Full Text Available This article is about the Islam lived and practiced by Muslim communities in Brazil. It attempts to understand the identity that this religion is acquiring in the Brazilian religious field. It discusses the discrepancy between figures presented by the official census and Muslim sources and offers models to think about the emergence of Muslim communities and possible changes due to the entrance of "new Muslims" (converted Brazilians without Muslim origin. Based on empirical data, it discusses the difficulties found and strategies used by the communities. It suggests that Islam in Brazil is starting to put down roots and to have a profile of its own.

  4. A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calve-Perthes disease or avascular necrosis of the femoral head.

    Directory of Open Access Journals (Sweden)

    Na Li

    Full Text Available OBJECTIVE: Mutations in the type II collagen gene are associated with certain human disorders, collectively termed type II collagenopathies. They include Legg-Calvé-Perthes disease (LCPD and avascular necrosis of the femoral head (ANFH. These two diseases are skeletal dysplasias, inherited in an autosomal dominant fashion, characterized by groin pain, dislocation of the hip and diminished joint mobility. Coxa vara and elevation of the greater trochanter of the femur comprise the typical phenotype of LCPD, but do not occur in ANFH. Lack of synthesis of type II collagen and structural defects are responsible for the major clinical outcomes, because collagen is the essential matrix protein of all connective tissues. Type II collagen, encoded by the COL2A1 gene, contains N- and C- terminal regions that are cleaved after secretion into the extracellular matrix, and the core area is composed of a triple helical (Gly-X-Y domain. If the Gly in this specific region is replaced by other amino acids, the structure of type II collagen will be destroyed. METHOD: Forty-five members of a four-generation family were recruited and investigated. Diagnosis was made by independent orthopedic surgeons and radiologists. A mutation of the COL2A1 gene was detected. RESULT: In our research, we identify a heterozygous mutation (c.1888 G>A, p. Gly630Ser in exon 29 of COL2A1 in the Gly-X-Y domain, in a Chinese family affected by LCPD and ANFH. Our findings provide significant clues to the phenotype-genotype relationships in these syndromes and may be helpful in clinical diagnosis. Furthermore, these results should assist further studies of the mechanisms underlying collagen diseases. CONCLUSION: Our data add new variants to the repertoire of COL2A1 mutation resulting in related collagenopathies.

  5. Characterization of the geochemical processes present in the radionuclides and metals mobilization in the tailing dam at the Uranium Mining and Milling Facilities - Pocos de Caldas, MG, Brazil; Caracterizacao dos processos geoquimicos atuantes na mobilizacao de radionuclideos e metais na bacia de rejeitos do complexo minero-industrial de Pocos de Caldas, MG, Brazil

    Energy Technology Data Exchange (ETDEWEB)

    Pinto, Patricia Freitas

    1995-08-01

    In Brazil, the first step of nuclear fuel cycle - the mining and milling of the uranium ore - is developed at the Uranium Mining and Milling Facilities of Pocos de Caldas, Minas Gerais state. The wastes management is a very important aspect of the process. The understanding of the geochemical processes that occur in the tailings dam is a key question to define a plan of action concerning the decommissioning strategy of the facility. The objective of the present work was to give some issues to help in the adoption of the remedial actions concerning the decommissioning of the facility. It focused on the characterization of the most important geochemical processes regulating the mobilization of radionuclides and heavy metals in the tailings dam. Two cores from the tailings dam (uncovered area) were collected. Seepage and drainage waters were sampled, the same being true for the tailings dam lake. Groundwater form an aquifer bellow the tailings dam and superficial waters from a river that receives the effluents of the dam (Soberbo River) were also sampled. Data from the mining company were used to calculate the inventory of radionuclides and heavy metals deposited in the waste dam.The obtained results showed that pyrite oxidation is the key process in the mobilization of radionuclides and heavy metals from the wastes. Pyrite oxidation is a process regulated by oxygen diffusion and water. In the studied scenario it could be shown that the process was limited to a one meter deep layer in the uncovered part of the waste dam. Because of this, Fe, Al, Mn, Zn, Th and {sup 238} U showed higher concentrations in the bottom layers of the cores in relation to the upper ones. {sup 226} Ra and {sup 210} Pb showed opposite patterns. The coprecipitation with Ca SO{sub 4} was the most relevant mechanism in both radionuclides immobilization in the wastes. Sulfate was the only chemical species that could be assigned as a contaminant in aquifer bellow the waste dam. As a conclusion, the

  6. Mutation breeding in pepper

    International Nuclear Information System (INIS)

    Pepper (Capsicum sp.) is an important vegetable and spice crop widely grown in tropical as well as in temperate regions. Until recently the improvement programmes were based mainly on using natural sources of germ plasma, crossbreeding and exploiting the heterosis of F1 hybrids. However, interest in using induced mutations is growing. A great number of agronomically useful mutants as well as mutants valuable for genetic, cytological and physiological studies have been induced and described. In this review information is presented about suitable mutagen treatment procedures with radiation as well as chemicals, M1 effects, handling the treated material in M1, M2 and subsequent generations, and mutant screening procedures. This is supplemented by a description of reported useful mutants and released cultivars. Finally, general advice is given on when and how to incorporate mutation induction in Capsicum improvement programmes. (author)

  7. HNPCC: Six new pathogenic mutations

    Directory of Open Access Journals (Sweden)

    Epplen Joerg T

    2004-06-01

    Full Text Available Abstract Background Hereditary non-polyposis colorectal cancer (HNPCC is an autosomal dominant disease with a high risk for colorectal and endometrial cancer caused by germline mutations in DNA mismatch-repair genes (MMR. HNPCC accounts for approximately 2 to 5% of all colorectal cancers. Here we present 6 novel mutations in the DNA mismatch-repair genes MLH1, MSH2 and MSH6. Methods Patients with clinical diagnosis of HNPCC were counselled. Tumor specimen were analysed for microsatellite instability and immunohistochemistry for MLH1, MSH2 and MSH6 protein was performed. If one of these proteins was not detectable in the tumor mutation analysis of the corresponding gene was carried out. Results We identified 6 frameshift mutations (2 in MLH1, 3 in MSH2, 1 in MSH6 resulting in a premature stop: two mutations in MLH1 (c.2198_2199insAACA [p.N733fsX745], c.2076_2077delTG [p.G693fsX702], three mutations in MSH2 (c.810_811delGT [p.C271fsX282], c.763_766delAGTGinsTT [p.F255fsX282], c.873_876delGACT [p.L292fsX298] and one mutation in MSH6 (c.1421_1422dupTG [p.C475fsX480]. All six tumors tested for microsatellite instability showed high levels of microsatellite instability (MSI-H. Conclusions HNPCC in families with MSH6 germline mutations may show an age of onset that is comparable to this of patients with MLH1 and MSH2 mutations.

  8. Manaus, Brazil

    Science.gov (United States)

    2002-01-01

    The junctions of the Amazon and the Rio Negro Rivers at Manaus, Brazil. The Rio Negro flows 2300 km from Columbia, and is the dark current forming the north side of the river. It gets its color from the high tannin content in the water. The Amazon is sediment laden, appearing brown in this simulated natural color image. Manaus is the capital of Amazonas state, and has a population in excess of one million. The ASTER image covers an area of 60 x 45 km. This image was acquired on July 16, 2000 by the Advanced Spaceborne Thermal Emission and Reflection Radiometer (ASTER) on NASA's Terra satellite. With its 14 spectral bands from the visible to the thermal infrared wavelength region, and its high spatial resolution of 15 to 90 meters (about 50 to 300 feet), ASTER will image Earth for the next 6 years to map and monitor the changing surface of our planet.ASTER is one of five Earth-observing instruments launched December 18, 1999, on NASA's Terra satellite. The instrument was built by Japan's Ministry of Economy, Trade and Industry. A joint U.S./Japan science team is responsible for validation and calibration of the instrument and the data products. Dr. Anne Kahle at NASA's Jet Propulsion Laboratory, Pasadena, California, is the U.S. Science team leader; Bjorn Eng of JPL is the project manager. The Terra mission is part of NASA's Earth Science Enterprise, a long-term research and technology program designed to examine Earth's land, oceans, atmosphere, ice and life as a total integrated system.The broad spectral coverage and high spectral resolution of ASTER will provide scientists in numerous disciplines with critical information for surface mapping, and monitoring dynamic conditions and temporal change. Example applications are: monitoring glacial advances and retreats; monitoring potentially active volcanoes; identifying crop stress; determining cloud morphology and physical properties; wetlands evaluation; thermal pollution monitoring; coral reef degradation; surface

  9. Differential Persistence of Transmitted HIV-1 Drug Resistance Mutation Classes

    Science.gov (United States)

    Jain, Vivek; Sucupira, Maria C.; Bacchetti, Peter; Hartogensis, Wendy; Diaz, Ricardo S.; Kallas, Esper G.; Janini, Luiz M.; Liegler, Teri; Pilcher, Christopher D.; Grant, Robert M.; Cortes, Rodrigo; Deeks, Steven G.

    2011-01-01

    Background. Transmitted human immunodeficiency virus type 1 (HIV-1) drug resistance (TDR) mutations can become replaced over time by emerging wild-type viral variants with improved fitness. The impact of class-specific mutations on this rate of mutation replacement is uncertain. Methods. We studied participants with acute and/or early HIV infection and TDR in 2 cohorts (San Francisco, California, and São Paulo, Brazil). We followed baseline mutations longitudinally and compared replacement rates between mutation classes with use of a parametric proportional hazards model. Results. Among 75 individuals with 195 TDR mutations, M184V/I became undetectable markedly faster than did nonnucleoside reverse-transcriptase inhibitor (NNRTI) mutations (hazard ratio, 77.5; 95% confidence interval [CI], 14.7–408.2; P < .0001), while protease inhibitor and NNRTI replacement rates were similar. Higher plasma HIV-1 RNA level predicted faster mutation replacement, but this was not statistically significant (hazard ratio, 1.71 log10 copies/mL; 95% CI, .90–3.25 log10 copies/mL; P = .11). We found substantial person-to-person variability in mutation replacement rates not accounted for by viral load or mutation class (P < .0001). Conclusions. The rapid replacement of M184V/I mutations is consistent with known fitness costs. The long-term persistence of NNRTI and protease inhibitor mutations suggests a risk for person-to-person propagation. Host and/or viral factors not accounted for by viral load or mutation class are likely influencing mutation replacement and warrant further study. PMID:21451005

  10. Wind / hydro complementary seasonal regimes in Brazil

    Energy Technology Data Exchange (ETDEWEB)

    Amarante, O.A.C. do [CAMARGO SCHUBERT Engenharia Eolica, Curitiba PR (Brazil); Schultz, D.J. [Companhia Paranaense de Energia (COPEL), Curitiba, PR (Brazil); Bittencourt, R.M. [CHESF - Companhia Hidro Eletrica do Sao Francisco, Recife PE (Brazil); Rocha, N.A. [PROMON Engenharia Ltda., Rio de Janeiro, RJ (Brazil)

    2001-08-01

    In the last decades, wind power generation has proven its suitability to the Gigawatt scale, necessary to an effective contribution to electric systems. This paper demonstrates, from existing data, the wind / hydro seasonal complementarity in the relevant areas of Brazil, and discusses its possible effect on the feasibility of seasonal stabilization of the energy supply in the Brazilian interconnected grid, taking advantage of the country's large natural resources available. Case studies for the southern/southeastern and the northeastern regions of Brazil are presented. A brief analysis is included regarding the geographic location of the interconnected grid, main hydro power plants, and estimated promising wind farm areas in Brazil. (orig.)

  11. The risk of extinction - the mutational meltdown or the overpopulation

    OpenAIRE

    Malarz, K.

    2006-01-01

    The phase diagrams survival-extinction for the Penna model with parameters: (mutations rate)-(birth rate), (mutation rate)-(harmful mutations threshold), (harmful mutation threshold)-(minimal reproduction age) are presented. The extinction phase may be caused by either mutational meltdown or overpopulation. When the Verhulst factor is responsible for removing only newly born babies and does not act on adults the overpopulation is avoided and only genetic factors may lead to species extinction.

  12. Methods for detection of ataxia telangiectasia mutations

    Science.gov (United States)

    Gatti, Richard A.

    2005-10-04

    The present invention is directed to a method of screening large, complex, polyexonic eukaryotic genes such as the ATM gene for mutations and polymorphisms by an improved version of single strand conformation polymorphism (SSCP) electrophoresis that allows electrophoresis of two or three amplified segments in a single lane. The present invention also is directed to new mutations and polymorphisms in the ATM gene that are useful in performing more accurate screening of human DNA samples for mutations and in distinguishing mutations from polymorphisms, thereby improving the efficiency of automated screening methods.

  13. Induced mutations in sorghum improvement

    International Nuclear Information System (INIS)

    A critical review of different aspects of mutagen sensitivity, considering the importance of such factors as genotypic constitution of the material, pre- and post-treatment modifications, type of mutagen and dose, techniques of handling the material and treatment procedures to maximize the induction of mutations together with the scope of induced mutations in sorghum improvement is presented. Hydrazine was found to be a more effective and efficient mutagen for inducing chlorophyll and viable mutations in sorghum than ethyl methanesulphonate, methyl methanesulphonate or γ-rays. Ethyl methane-sulphonate among the alkylating agents and nitroso methyl urea among nitroso compounds were the most potent mutagens. The efficient radiation dose was within the 20-35 kr range whereas 0.015M was the effective dosage for hydrazine and ethylmethane sulphonate. The combination treatments of various physical and chemical mutagens failed to yield significant increase in the recovery of mutations, while cysteine post-treatments of γ-irradiated and hydrazine-treated material reduced seedling injury, seed sterility and increased the recovery of viable mutations compared to single treatments. There is scope for induced mutations in solving some of the current problems of sorghum improvement such as, increasing the recombination potential of tropical X temperate crosses, improving the nutritional quality of grain and forage sorghums, diversification of male sterile cytoplasmic sources, better understanding of mechanism of apomixis and augmenting the levels of resistance to sorghum insects, pests and diseases. (author)

  14. Land reform and landholdings in Brazil

    OpenAIRE

    Assunção, Juliano

    2006-01-01

    Land and wealth are closely related in rural Brazil, a country characterized by high levels of inequality in terms of income or landholdings. After presenting a historical retrospective of land concentration and land reform in Brazil, this study evaluates the impact of the land reform programme undertaken in the 1990s on land ownership and land distribution. It is shown that the programme increased landownership among poor rural families and those with less educated household heads, reducing ...

  15. Why do patients undergoing anterior cruciate ligament reconstruction in Brazil stay in hospital for longer periods than in other countries? Prospective evaluation of 30 patients and presentation of possible discharge criteria

    Directory of Open Access Journals (Sweden)

    Diego Costa Astur

    2013-08-01

    Full Text Available OBJECTIVE: Evaluate a better moment by the medical team and patient to be discharged and relate to possible medical discharge criteria. METHODS: 31 anterior cruciate ligament reconstructed patients under similar conditions prospectively evaluated about the possibility of discharge with 24 and 48 hours after surgery and possibles discharges criteria such as pain, range of motion and capacity quadriceps contraction, besides the use of a validated scale to measure the patient's functional independence. RESULTS: 50% and 6.4% of patients prefer remain hospitalized after 24 and 48 hours of surgery, respectively. The average of the visual analogue scale of pain was 2.63 and 1.76 points, and the range of motion of 79º and 86,7º after 24 and 48 hours, respectively. 100% of patients were able to quadriceps contraction in every evaluated moments. CONCLUSION: In Brazil, possible discharged criteria as pain, range of motion, quad contraction and motor independence motor function scale show that anterior cruciate reconstruction reconstructed patients could be discharged after 24 hours of surgery. However, 50% of patients still prefer to remain hospitalized for longer periods.

  16. Radiopharmacy education in Brazil

    OpenAIRE

    Ralph Santos-Oliveira; Marta De Souza Albernaz

    2014-01-01

    The number of schools of pharmacy has been increasing each year in Brazil. From 2002 to 2013 over 300 new schools were opened in Brazil with a final number of 415 schools of pharmacy in operation around the country. Of these schools, only 28 schools offer a course in radiopharmacy (7.77%). However, the demand for such trained professionals has grown exponentially in Brazil, especially following amendment 49 (February 2006) that broke the monopoly on the production, distribution, and marketing...

  17. Purging deleterious mutations under self fertilization: paradoxical recovery in fitness with increasing mutation rate in Caenorhabditis elegans.

    Directory of Open Access Journals (Sweden)

    Levi T Morran

    Full Text Available BACKGROUND: The accumulation of deleterious mutations can drastically reduce population mean fitness. Self-fertilization is thought to be an effective means of purging deleterious mutations. However, widespread linkage disequilibrium generated and maintained by self-fertilization is predicted to reduce the efficacy of purging when mutations are present at multiple loci. METHODOLOGY/PRINCIPAL FINDINGS: We tested the ability of self-fertilizing populations to purge deleterious mutations at multiple loci by exposing obligately self-fertilizing populations of Caenorhabditis elegans to a range of elevated mutation rates and found that mutations accumulated, as evidenced by a reduction in mean fitness, in each population. Therefore, purging in obligate selfing populations is overwhelmed by an increase in mutation rate. Surprisingly, we also found that obligate and predominantly self-fertilizing populations exposed to very high mutation rates exhibited consistently greater fitness than those subject to lesser increases in mutation rate, which contradicts the assumption that increases in mutation rate are negatively correlated with fitness. The high levels of genetic linkage inherent in self-fertilization could drive this fitness increase. CONCLUSIONS: Compensatory mutations can be more frequent under high mutation rates and may alleviate a portion of the fitness lost due to the accumulation of deleterious mutations through epistatic interactions with deleterious mutations. The prolonged maintenance of tightly linked compensatory and deleterious mutations facilitated by self-fertilization may be responsible for the fitness increase as linkage disequilibrium between the compensatory and deleterious mutations preserves their epistatic interaction.

  18. Transgenic Animal Mutation Assays

    Institute of Scientific and Technical Information of China (English)

    Tao Chen; Ph.D.D.A.B.T.

    2005-01-01

    @@ The novel transgenic mouse and rat mutation assays have provided a tool for analyzing in vivo mutation in any tissue, thus permitting the direct comparison of cancer incidence with mutant frequency.

  19. Spherical tokamak development in Brazil

    Energy Technology Data Exchange (ETDEWEB)

    Ludwig, Gerson Otto; Bosco, Edson Del; Ferreira, Julio Guimaraes [Instituto Nacional de Pesquisas Espaciais (INPE), Sao Jose dos Campos, SP (Brazil). Lab. Associado de Plasma] (and others)

    2003-07-01

    The general characteristics of spherical tokamaks, or spherical tori, with a brief view of work in this area already performed or in progress at several institutions worldwide are described. The paper presents also the steps in the development of the ETE (Experiment Tokamak spheric) project, its research program, technical characteristics and operating conditions as of December, 2002 a the Associated Plasma Laboratory (LAP) of the National Space Research Institute (INPE) in Brazil. (author)

  20. Spherical tokamak development in Brazil

    Energy Technology Data Exchange (ETDEWEB)

    Ludwig, G.O.; Del Bosco, E.; Ferreira, J.G.; Berni, L.A.; Oliveira, R.M.; Andrade, M.C.R.; Shibata, C.S.; Ueda, M.; Barroso, J.J.; Castro, P.J. [Instituto Nacional de Pesquisas Espaciais (INPE), Sao Jose dos Campos, SP (Brazil). Lab. Associado de Plasma; Barbosa, L.F.W. [Universidade do Vale do Paraiba (UNIVAP), Sao Jose dos Campos, SP (Brazil). Faculdade de Engenharia, Arquitetura e Urbanismo; Patire Junior, H. [Instituto Nacional de Pesquisas Espaciais (INPE), Sao Jose dos Campos, SP (Brazil). Div. de Mecanica Espacial e Controle; The high-power microwave sources group

    2003-12-01

    This paper describes the general characteristics of spherical tokamaks, or spherical tori, with a brief overview of work in this area already performed or in progress at several institutions worldwide. The paper presents also the steps in the development of the ETE (Experimento Tokamak Esferico) project, its research program, technical characteristics and operating conditions as of December, 2002 at the Associated Plasma Laboratory (LAP) of the National Space Research Institute (INPE) in Brazil. (author)

  1. Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.

    Science.gov (United States)

    Rozenberg, R; Kok, F; Burin, M G; Sá Miranda, M C; Vasques, C; Henriques-Souza, A M M; Giugliani, R; Vainzof, Mariz; Pereira, L V

    2006-06-01

    Molecular analysis of five Brazilian families, including eight patients presenting with nonclassic Tay-Sachs disease, was performed to identify frequent causative mutations and their correlation with clinical course. Three patients were affected by the B1 subacute variant and were shown to carry the R178H mutation (the DN allele), which is also common among Portuguese patients. Two of them were compound heterozygotes, whereas the third presented with the mutation in both alleles. Since Brazil was a Portuguese colony for over two centuries, common ancestry might be the probable explanation. The fourth patient presented with a juvenile phenotype and carries the R499H mutation, which has been reported only once worldwide and is associated with residual enzyme activity, responsible for a slower clinical course. The fifth family, of an Ashkenazi Jewish background, showed an extensive intrafamilial clinical variability among three affected sibs presenting with muscle atrophy, ataxia, and psychiatric symptoms. They were first diagnosed as having atypical spinal muscular atrophy and, subsequently, spinocerebellar ataxia, but, recently, the diagnosis of late-onset Tay-Sachs disease was confirmed based on reduced plasma hexosaminidase A activity and the G269S/InsTATC1278 genotype. It is therefore highly recommended to test patients with a similar clinical history for Tay-Sachs disease. In the same family, one first cousin committed suicide at the age of 24 years, presenting with a clinical phenotype that suggested an undiagnosed case and highlighting the effect of the intrafamilial clinical variability in delaying a prompt diagnosis. It is now recognized that his parents are, in fact, a carrier couple. Additionally, another relative had been previously identified as a heterozygote in a Tay-Sachs disease screening program, but the information was not shared among the family. Since this information might anticipate diagnosis and genetic counseling, it is advisable that

  2. Mutation update for the PORCN gene

    DEFF Research Database (Denmark)

    Lombardi, Maria Paola; Bulk, Saskia; Celli, Jacopo;

    2011-01-01

    , the pentalogy of Cantrell and Limb-Body Wall Complex. Here we present a review of the published mutations in the PORCN gene to date and report on seven new mutations together with the corresponding clinical data. Based on the review we have created a Web-based locus-specific database that lists all...

  3. Pediatric lymphomas in Brazil

    Directory of Open Access Journals (Sweden)

    Gabriela Gualco

    2010-01-01

    Full Text Available OBJECTIVE: This study provides the clinical pathological characteristics of 1301 cases of pediatric/adolescent lymphomas in patients from different geographic regions of Brazil. METHODS: A retrospective analyses of diagnosed pediatric lymphoma cases in a 10-year period was performed. We believe that it represents the largest series of pediatric lymphomas presented from Brazil. RESULTS: Non-Hodgkin lymphomas represented 68% of the cases, including those of precursor (36% and mature (64% cell origin. Mature cell lymphomas comprised 81% of the B-cell phenotype and 19% of the T-cell phenotype. Hodgkin lymphomas represented 32% of all cases, including 87% of the classical type and 13% of nodular lymphocyte predominant type. The geographic distribution showed 38.4% of the cases in the Southeast region, 28.7% in the Northeast, 16.1% in the South, 8.8% in the North, and 8% in the Central-west region. The distribution by age groups was 15-18 years old, 33%; 11-14 years old, 26%; 6-10 years old, 24%; and 6 years old or younger, 17%. Among mature B-cell lymphomas, most of the cases were Burkitt lymphomas (65%, followed by diffuse large B-cell lymphomas (24%. In the mature T-cell group, anaplastic large cell lymphoma, ALK-positive was the most prevalent (57%, followed by peripheral T-cell lymphoma, then not otherwise specified (25%. In the group of classic Hodgkin lymphomas, the main histological subtype was nodular sclerosis (76%. Nodular lymphocyte predominance occurred more frequently than in other series. CONCLUSION: Some of the results found in this study may reflect the heterogeneous socioeconomical status and environmental factors of the Brazilian population in different regions.

  4. Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis

    Directory of Open Access Journals (Sweden)

    P.L. Bittencourt

    2002-03-01

    Full Text Available The hemochromatosis gene, HFE, is located on chromosome 6 in close proximity to the HLA-A locus. Most Caucasian patients with hereditary hemochromatosis (HH are homozygous for HLA-A3 and for the C282Y mutation of the HFE gene, while a minority are compound heterozygotes for C282Y and H63D. The prevalence of these mutations in non-Caucasian patients with HH is lower than expected. The objective of the present study was to evaluate the frequencies of HLA-A antigens and the C282Y and H63D mutations of the HFE gene in Brazilian patients with HH and to compare clinical and laboratory profiles of C282Y-positive and -negative patients with HH. The frequencies of HLA-A and C282Y and H63D mutations were determined by PCR-based methods in 15 male patients (median age 44 (20-72 years with HH. Eight patients (53% were homozygous and one (7% was heterozygous for the C282Y mutation. None had compound heterozygosity for C282Y and H63D mutations. All but three C282Y homozygotes were positive for HLA-A3 and three other patients without C282Y were shown to be either heterozygous (N = 2 or homozygous (N = 1 for HLA-A3. Patients homozygous for the C282Y mutation had higher ferritin levels and lower age at onset, but the difference was not significant. The presence of C282Y homozygosity in roughly half of the Brazilian patients with HH, together with the findings of HLA-A homozygosity in C282Y-negative subjects, suggest that other mutations in the HFE gene or in other genes involved in iron homeostasis might also be linked to HH in Brazil.

  5. Novel PORCN mutations in focal dermal hypoplasia.

    Science.gov (United States)

    Froyen, G; Govaerts, K; Van Esch, H; Verbeeck, J; Tuomi, M-L; Heikkilä, H; Torniainen, S; Devriendt, K; Fryns, J-P; Marynen, P; Järvelä, I; Ala-Mello, S

    2009-12-01

    Focal dermal hypoplasia (FDH), Goltz or Goltz-Gorlin syndrome, is an X-linked dominant multisystem disorder characterized primarily by involvement of the skin, skeletal system and eyes. We screened for mutations in the PORCN gene in eight patients of Belgian and Finnish origin with firm clinical suspicion of FDH. First, we performed quantitative PCR (qPCR) analysis to define the copy number at this locus. Next, we sequenced the coding regions and flanking intronic sequences of the PORCN gene. Three de novo mutations were identified in our patients with FDH: a 150-kb deletion removing six genes including PORCN, as defined by qPCR and X-array-CGH, and two heterozygous missense mutations; c.992T>G (p.L331R) in exon 11 and c.1094G>A (p.R365Q) in exon 13 of the gene. Both point mutations changed highly conserved amino acids and were not found in 300 control X chromosomes. The three patients in whom mutations were identified all present with characteristic dermal findings together with limb manifestations, which were not seen in our mutation-negative patients. The clinical characteristics of our patients with PORCN mutations were compared with the previously reported mutation-positive cases. In this report, we summarize the literature on PORCN mutations and associated phenotypes.

  6. Recurrent APC gene mutations in Polish FAP families

    Directory of Open Access Journals (Sweden)

    Pławski Andrzej

    2007-12-01

    Full Text Available Abstract The molecular diagnostics of genetically conditioned disorders is based on the identification of the mutations in the predisposing genes. Hereditary cancer disorders of the gastrointestinal tracts are caused by mutations of the tumour suppressor genes or the DNA repair genes. Occurrence of recurrent mutation allows improvement of molecular diagnostics. The mutation spectrum in the genes causing hereditary forms of colorectal cancers in the Polish population was previously described. In the present work an estimation of the frequency of the recurrent mutations of the APC gene was performed. Eight types of mutations occurred in 19.4% of our FAP families and these constitute 43% of all Polish diagnosed families.

  7. Infantile Hemophagocytic Lymphohistiocytosis in a Case of Chediak-Higashi Syndrome Caused by a Mutation in the LYST/CHS1 Gene Presenting With Delayed Umbilical Cord Detachment and Diarrhea

    DEFF Research Database (Denmark)

    Nielsen, Christian; Agergaard, Charlotte N; Jakobsen, Marianne A;

    2015-01-01

    A 2-month-old female infant, born to consanguineous parents, presented with infections in skin and upper respiratory tract. She was notable for delayed umbilical cord detachment, partial albinism, and neurological irritability. Giant granules were present in white blood cells. The intracellular p...

  8. L925I mutation in the Para-type sodium channel is associated with pyrethroid resistance in Triatoma infestans from the Gran Chaco region.

    Directory of Open Access Journals (Sweden)

    Natalia Capriotti

    Full Text Available BACKGROUND: Chagas' disease is an important public health concern in Latin America. Despite intensive vector control efforts using pyrethroid insecticides, the elimination of Triatoma infestans has failed in the Gran Chaco, an ecoregion that extends over Argentina, Paraguay, Bolivia and Brazil. The voltage-gated sodium channel is the target site of pyrethroid insecticides. Point mutations in domain II region of the channel have been implicated in pyrethroid resistance of several insect species. METHODS AND FINDINGS: In the present paper, we identify L925I, a new pyrethroid resistance-conferring mutation in T. infestans. This mutation has been found only in hemipterans. In T. infestans, L925I mutation occurs in a resistant population from the Gran Chaco region and is associated with inefficiency in the control campaigns. We also describe a method to detect L925I mutation in individuals from the field. CONCLUSIONS AND SIGNIFICANCE: The findings have important implications in the implementation of strategies for resistance management and in the rational design of campaigns for the control of Chagas' disease transmission.

  9. Multiple oncogenic mutations related to targeted therapy in nasopharyngeal carcinoma

    Institute of Scientific and Technical Information of China (English)

    Jian-Wei Zhang; Hong-Yuan Zhao; Yu-Xiang Ma; Zhi-Huang Hu; Pei-Yu Huang; Li Zhang; Tao Qin; Shao-Dong Hong; Jing Zhang; Wen-Feng Fang; Yuan-Yuan Zhao; Yun-Peng Yang; Cong Xue; Yan Huang

    2015-01-01

    Introduction:An increasing number of targeted drugs have been tested for the treatment of nasopharyngeal carcinoma (NPC). However, targeted therapy-related oncogenic mutations have not been fully evaluated. This study aimed to detect targeted therapy-related oncogenic mutations in NPC and to determine which targeted therapy might be potentially effective in treating NPC. Methods:By using the SNaPshot assay, a rapid detection method, 19 mutation hotspots in 6 targeted therapy-related oncogenes were examined in 70 NPC patients. The associations between oncogenic mutations and clinicopathologic factors were analyzed. Results:Among 70 patients, 12 (17.1%) had mutations in 5 oncogenes:7 (10.0%) had v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT) mutation, 2 (2.8%) had epidermal growth factor receptor (EGFR) mutation, 1 (1.4%) had phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA) mutation, 1 (1.4%) had Kirsten rat sarcoma viral oncogene homolog (KRAS) mutation, and 1 (1.4%) had simultaneous EGFR and v-Raf murine sarcoma viral oncogene homolog B1 (BRAF) mutations. No significant differences were observed between oncogenic mutations and clinicopathologic characteristics. Additionally, these oncogenic mutations were not associated with tumor recurrence and metastasis. Conclusions:Oncogenic mutations are present in NPC patients. The efficacy of targeted drugs on patients with the related oncogenic mutations requires further validation.

  10. A new species of the genus Xanthomicrogaster Cameron (Hymenoptera: Braconidae: Microgastrinae) from Brazil

    NARCIS (Netherlands)

    Penteado-Dias, A.M.; Shimabukuro, P.H.F.; Achterberg, van C.

    2002-01-01

    One new Xanthomicrogaster species from Brazil is described, and X. fortipes Cameron, 1911, is redescribed and reported from Brazil and Suriname for the first time. A key to the species is presented as well as data about the geographical distribution in Brazil.

  11. Advanced ceramics in Brazil: actual stage and perspectives

    International Nuclear Information System (INIS)

    The development of advanced ceramics in Brazil, the perspectives of the world and Brazilian markets, the raw materials, the equipments for industry and research, the human resources, and the disposable technology, are presented. The researches on advanced ceramics in Brazil initiated in the sixty decade, with the nuclear fuel development and production projets. (M.C.K.)

  12. Publishing, Books and Library Resources: Brazil and Argentina.

    Science.gov (United States)

    National Book Committee, Inc., New York, NY.

    This survey synthesizes and analyzes the book resources and book requirements of Brazil, with particular reference to the educational scene, in terms of local production and distribution resources and capabilities. Information on the geography, political establishment, economy, and educational system of Brazil is presented in the introductory…

  13. Present status of the wind power using; Panorama atual de utilizacao da energia eolica

    Energy Technology Data Exchange (ETDEWEB)

    Reguse, Wilson [CELESC - Centrais Eletricas de Santa Catarina S.A., FLorianopolis (Brazil)]. E-mail: wilsonr@celesc.com.br; Montenegro, Alexandre de Albuquerque [Universidade Federal de Santa Catarina, Florianopolis (Brazil). Lab. de Energia Solar (LABSOLAR)]. E-mail: alex@emc.ufsc.br

    2000-07-01

    This paper presents the status of the wind power utilization in Brazil. The paper consider the subjects as follows: general aspects of wind turbine, wind power systems, Environmental impacts, Worldwide wind power utilization, wind power in Germany and Brazil.

  14. Variability and resistance mutations in the hepatitis C virus NS3 protease in patients not treated with protease inhibitors

    Directory of Open Access Journals (Sweden)

    Luciana Bonome Zeminian

    2013-02-01

    Full Text Available The goal of treatment of chronic hepatitis C is to achieve a sustained virological response, which is defined as exhibiting undetectable hepatitis C virus (HCV RNA levels in serum following therapy for at least six months. However, the current treatment is only effective in 50% of patients infected with HCV genotype 1, the most prevalent genotype in Brazil. Inhibitors of the serine protease non-structural protein 3 (NS3 have therefore been developed to improve the responses of HCV-infected patients. However, the emergence of drug-resistant variants has been the major obstacle to therapeutic success. The goal of this study was to evaluate the presence of resistance mutations and genetic polymorphisms in the NS3 genomic region of HCV from 37 patients infected with HCV genotype 1 had not been treated with protease inhibitors. Plasma viral RNA was used to amplify and sequence the HCV NS3 gene. The results indicate that the catalytic triad is conserved. A large number of substitutions were observed in codons 153, 40 and 91; the resistant variants T54A, T54S, V55A, R155K and A156T were also detected. This study shows that resistance mutations and genetic polymorphisms are present in the NS3 region of HCV in patients who have not been treated with protease inhibitors, data that are important in determining the efficiency of this new class of drugs in Brazil.

  15. Climatic change in northeastern Brazil: paleoparasitological data

    Directory of Open Access Journals (Sweden)

    Adauto Araujo

    1993-12-01

    Full Text Available Trichuris eggs were observed in Kerodon rupestris coprolites dated 9,000 years before present, collected in archeological sites of São Raimundo Nonato, northeastern Brazil. However, present day local rodents seem not to be infected by the parasite, suggesting its disappearence due to climatic changes.

  16. Human ocular sparganosis in southern Brazil

    OpenAIRE

    Márcia Bohrer Mentz; Fernando Procianoy; Marcelo Krieger Maestri; Marilise Brittes Rott

    2011-01-01

    We report the first case of human ocular sparganosis in the state of Santa Catarina, southern Brazil. A young female patient presented with three periocular moveable inflammatory masses in her right eye, during two years. By surgical excisional biopsy, a helminth larval stage was removed and identified as sparganum. Clinical, laboratory and epidemiological data on this parasite are presented.

  17. Human ocular sparganosis in southern Brazil

    Directory of Open Access Journals (Sweden)

    Márcia Bohrer Mentz

    2011-02-01

    Full Text Available We report the first case of human ocular sparganosis in the state of Santa Catarina, southern Brazil. A young female patient presented with three periocular moveable inflammatory masses in her right eye, during two years. By surgical excisional biopsy, a helminth larval stage was removed and identified as sparganum. Clinical, laboratory and epidemiological data on this parasite are presented.

  18. Three kinds of mutation

    CERN Document Server

    Buan, Aslak Bakke; Thomas, Hugh

    2010-01-01

    For a finite dimensional hereditary algebra, we consider: exceptional sequences in the category of finite dimensional modules, silting objects in the bounded derived category, and m-cluster tilting objects in the m-cluster category. There are mutation operations on both the set of m-cluster tilting objects and the set of exceptional sequences. It is also possible to define a mutation operation for silting objects. We compare these three different notions of mutation.

  19. THE COOPERATIVE CREDIT MUTUAL IN BRAZIL.

    Directory of Open Access Journals (Sweden)

    Laércio Baptista da Silva

    2013-06-01

    Full Text Available This study presents an analysis of the reality of credit unions in Brazil, in view of the singular importance of credit unions for the whole society as an alternative to private resources in favor of members of the community where they are located. It confirms that, in Brazil, the mutual credit unions, besides being presented as one of the viable options within the financial system, are also seen as an alternative by which some sectors of society promote the humanization of the financial system by offering credit and return on capital with fairer interest rates.

  20. THE COOPERATIVE CREDIT MUTUAL IN BRAZIL.

    OpenAIRE

    Laércio Baptista da Silva; Antonio Guerra Junior

    2013-01-01

    This study presents an analysis of the reality of credit unions in Brazil, in view of the singular importance of credit unions for the whole society as an alternative to private resources in favor of members of the community where they are located. It confirms that, in Brazil, the mutual credit unions, besides being presented as one of the viable options within the financial system, are also seen as an alternative by which some sectors of society promote the humanization of the financial s...

  1. Mapping Mutations on Phylogenies

    DEFF Research Database (Denmark)

    Nielsen, Rasmus

    2005-01-01

    This chapter provides a short review of recent methodologies developed for mapping mutations on phylogenies. Mapping of mutations, or character changes in general, using the maximum parsimony principle has been one of the most powerful tools in phylogenetics, and it has been used in a variety of ...... uncertainty in the mapping. Recently developed probabilistic methods can incorporate statistical uncertainty in the character mappings. In these methods, focus is on a probability distribution of mutational mappings instead of a single estimate of the mutational mapping....

  2. Multiple mutations and mutation combinations in the sodium channel of permethrin resistant mosquitoes, Culex quinquefasciatus

    Science.gov (United States)

    Li, Ting; Zhang, Lee; Reid, William R.; Xu, Qiang; Dong, Ke; Liu, Nannan

    2012-10-01

    A previous study identified 3 nonsynonymous and 6 synonymous mutations in the entire mosquito sodium channel of Culex quinquefasciatus, the prevalence of which were strongly correlated with levels of resistance and increased dramatically following insecticide selection. However, it is unclear whether this is unique to this specific resistant population or is a common mechanism in field mosquito populations in response to insecticide pressure. The current study therefore further characterized these mutations and their combinations in other field and permethrin selected Culex mosquitoes, finding that the co-existence of all 9 mutations was indeed correlated with the high levels of permethrin resistance in mosquitoes. Comparison of mutation combinations revealed several common mutation combinations presented across different field and permethrin selected populations in response to high levels of insecticide resistance, demonstrating that the co-existence of multiple mutations is a common event in response to insecticide resistance across different Cx. quinquefasciatus mosquito populations.

  3. Purging Deleterious Mutations under Self Fertilization: Paradoxical Recovery in Fitness with Increasing Mutation Rate in Caenorhabditis elegans

    OpenAIRE

    Morran, Levi T.; Ohdera, Aki H.; Phillips, Patrick C.

    2010-01-01

    BACKGROUND: The accumulation of deleterious mutations can drastically reduce population mean fitness. Self-fertilization is thought to be an effective means of purging deleterious mutations. However, widespread linkage disequilibrium generated and maintained by self-fertilization is predicted to reduce the efficacy of purging when mutations are present at multiple loci. METHODOLOGY/PRINCIPAL FINDINGS: We tested the ability of self-fertilizing populations to purge deleterious mutations at mult...

  4. Brazil Agriculture Policy Review

    OpenAIRE

    Quiroga, Jose; Brooks, Jonathan; Melyukhina, Olga

    2005-01-01

    In June 2005, OECD members met with senior government officials from Brazil to discuss Brazilian agricultural policies and future directions, as a part of a comprehensive agricultural policy review. Ongoing dialogue with Brazil on policy issues is important to fostering a better understanding of global challenges and opportunities that lie ahead. Results of the review will be published by the OECD in 2005. This policy note provides a preview of key findings.

  5. Energy in Brazil

    International Nuclear Information System (INIS)

    To prepare the Gross Domestic Product increase of 4 % in the next years, it is necessary to increase the capacity in Brazil. The government decided actions in favor of the installed capacity growth speeding up and planed investments. This document takes stock on the energy situation in Brazil, the human, political and geographical constraints and the decided measures in favor the energy development. (A.L.B.)

  6. Validation of Deleterious Mutations in Vorderwald Cattle.

    Science.gov (United States)

    Reinartz, Sina; Distl, Ottmar

    2016-01-01

    In Montbéliarde cattle two candidate mutations on bovine chromosomes 19 and 29 responsible for embryonic lethality have been detected. Montbéliarde bulls have been introduced into Vorderwald cattle to improve milk and fattening performance. Due to the small population size of Vorderwald cattle and the wide use of a few Montbéliarde bulls through artificial insemination, inbreeding on Montbéliarde bulls in later generations was increasing. Therefore, we genotyped an aborted fetus which was inbred on Montbéliarde as well as Vorderwald x Montbéliarde crossbred bulls for both deleterious mutations. The abortion was observed in an experimental herd of Vorderwald cattle. The objectives of the present study were to prove if one or both lethal mutations may be assumed to have caused this abortion and to show whether these deleterious mutations have been introduced into the Vorderwald cattle population through Montbéliarde bulls. The aborted fetus was homozygous for the SLC37A2:g.28879810C>T mutation (ss2019324563) on BTA29 and both parents as well as the paternal and maternal grandsire were heterozygous for this mutation. In addition, the parents and the paternal grandsire were carriers of the MH2-haplotype linked with the T-allele of the SLC37A2:g.28879810C>T mutation. For the SHBG:g.27956790C>T mutation (rs38377500) on BTA19 (MH1), the aborted fetus and its sire were heterozygous. Among all further 341 Vorderwald cattle genotyped we found 27 SLC37A2:g.28879810C>T heterozygous animals resulting in an allele frequency of 0.0396. Among the 120 male Vorderwald cattle, there were 12 heterozygous with an allele frequency of 0.05. The SLC37A2:g.28879810C>T mutation could not be found in further nine cattle breeds nor in Vorderwald cattle with contributions from Ayrshire bulls. In 69 Vorderwald cattle without genes from Montbéliarde bulls the mutated allele of SLC37A2:g.28879810C>T could not be detected. The SHBG:g.27956790C>T mutation appeared unlikely to be responsible

  7. Gestational mutations in radiation carcinogenesis

    Science.gov (United States)

    Meza, R.; Luebeck, G.; Moolgavkar, S.

    Mutations in critical genes during gestation could increase substantially the risk of cancer. We examine the consequences of such mutations using the Luebeck-Moolgavkar model for colorectal cancer and the Lea-Coulson modification of the Luria-Delbruck model for the accumulation of mutations during gestation. When gestational mutation rates are high, such mutations make a significant contribution to cancer risk even for adult tumors. Furthermore, gestational mutations ocurring at distinct times during emryonic developmemt lead to substantially different numbers of mutated cells at birth, with early mutations leading to a large number (jackpots) of mutated cells at birth and mutation occurring late leading to only a few mutated cells. Thus gestational mutations could confer considerable heterogeneity of the risk of cancer. If the fetus is exposed to an environmental mutagen, such as ionizing radiation, the gestational mutation rate would be expected to increase. We examine the consequences of such exposures during gestation on the subsequent development of cancer.

  8. Induced mutation of Dendrobium orchid

    International Nuclear Information System (INIS)

    Dendrobiiim orchids serve as the main orchid cut flower export of Malaysia. The wide range of colour and forms presently available in the market are obtained through hybridisation. Induced mutation breeding program was initiated on a commercial variety Dendrobium 'Sonia Kai' to explore the possibilities of obtaining new colour and forms. Matured seeds from self pollination were cultured and irradiated at 35 Gy at the protocorm-like bodies (PLBS) stage. Selection of induced mutations was done after the first flowering of the plants regenerated from the irradiated protocorms. Results showed changes in flower colour, shape and size. Most of these chances are expressed in different combinations in the petals, sepals and lip of the flowers. Thus, resulting. in a very wide spectrum of mutations. Some of these chances are not stable. To date, mutants that showed stable characteristics changes are grouped into 11 categories based on flower colour and form. These results show that the combination of its vitro technique and induced mutation can be applied in orchid breeding to produce new interesting and attractive variety for the market

  9. Neotectonics in northeastern Brazil

    Science.gov (United States)

    Bezerra, Francisco Hilario Rego

    The thesis describes neotectonic deformation in the continental intraplate region of northeastern Brazil and explores its links with modern seismicity. The region, which is under E-W-oriented compression and N-S-oriented extension, shows shallow earthquake swarms which last for several years and include 5.0-5.2 mb events. Remote sensing, borehole and geophysical data, in conjunction with field structural information, indicate a continuous faulting process since the Miocene which has reactivated Cretaceous faults and Precambrian shear zones or in places generated new faults which cut across existing structures. Three main sets of faults are recognised across the area: a NE-striking set, a NW-striking set and a N-striking set. The first and the second sets are pervasive and their cross-cutting relationships show that they locally form a conjugate set and display both a strike-slip and a dip-slip component of movement. They have generated troughs filled by as much as 260 m of Cainozoic sediments. Radiocarbon dating shows that some of the faults slipped as recently as 4,041-3,689 cal. yr BP. Although the elevation of coastal deposits is consistent with the predictions of glacioisostatic models for the area, tectonic influence can be detected notably near the Carnaubais fault, where rapid emergence by at least 5 m to the east of Sao Bento occurred 4,080-2,780 cal. yr BP. Secondary ground failure, which includes hydroplastic deformation, liquefaction and landslides, can be seen in Quaternary alluvial sediments and is reported in the historical record. The present data show that the potential for large earthquakes in northeastern Brazil has been underestimated. Empirical relationships using liquefaction and surface rupture point to events of at least Ms=6.8 compared to a maximum mb = 5.2 recorded instrumentally. The finding that NE- and NW-trending faults are favourably orientated for reactivation in relation to the current stress field is of potential value for seismic

  10. Mutation and premating isolation.

    Science.gov (United States)

    Woodruff, R C; Thompson, J N

    2002-11-01

    While premating isolation might be traceable to different genetic mechanisms in different species, evidence supports the idea that as few as one or two genes may often be sufficient to initiate isolation. Thus, new mutation can theoretically play a key role in the process. But it has long been thought that a new isolation mutation would fail, because there would be no other individuals for the isolation-mutation-carrier to mate with. We now realize that premeiotic mutations are very common and will yield a cluster of progeny carrying the same new mutant allele. In this paper, we discuss the evidence for genetically simple premating isolation barriers and the role that clusters of an isolation mutation may play in initiating allopatric, and even sympatric, species divisions.

  11. Energetic infrastructure and sustainable development: present situation and alternatives for the state of Roraima, Brazil; Infraestrutura energetica e desenvolvimento sustentavel: situacao atual e alternativas para o estado de Roraima, Brasil

    Energy Technology Data Exchange (ETDEWEB)

    Marques, Antonio de Oliveira

    2009-07-01

    This study aims to analyze the current situation of energy structure available of Roraima state, as well as viable alternatives to enlarge the base of the structure and minimize the impact to the environment, thus providing the support necessary for sustainable development of the state. In the theoretical framework, sought to present the main links between natural resources, economy and environment, and between infrastructure and economic development, where it is present energy infrastructure. Examined the capacity of generating electricity in Roraima and the existent limitations of the current structure available. Verifying the available options for energy production from renewable source in the state, analyzing their potential and viability. Were also proposed for energy planning strategies with the goal of providing the essential foundation for the sustainable development of Roraima. As a result of the search is highlighted the source of energy with the greatest potential in the state is water. The biomass and solar energy can be alternatives to attend isolated communities. The study also found that the current structure of energy Roraima does not provide the support necessary for a reliable and sustainable development. (author)

  12. Repressão e mudanças no trabalho análogo a de escravo no Brasil: tempo presente e usos do passado Repression and changes in slave-like labor in Brazil: in the present and uses of the past

    Directory of Open Access Journals (Sweden)

    Ângela Maria de Castro Gomes

    2012-12-01

    Full Text Available O objetivo do artigo é analisar um fenômeno recente da história social do trabalho no Brasil, designado como trabalho análogo a de escravo, caracterizado como crime pelo Código Penal, desde 1940. Fenômeno que atinge todos os continentes, é encontrado em países com níveis de desenvolvimento muito distintos. O trabalho escravo contemporâneo, como é conhecido, tem sido alvo de combate pela OIT e gerado a criação de políticas públicas para procurar extingui-lo. No Brasil, a ação dos Grupos de Fiscalização Móvel, do Ministério do Trabalho e Emprego, e a Igreja católica, através da Comissão Pastoral da Terra, têm se destacado nas denúncias e repressão à sua utilização. Mas a despeito das imensas dificuldades encontradas nesse combate, as ações do Estado brasileiro têm conseguido resultados positivos, entre os quais uma maior conscientização dos trabalhadores 'escravizados' sobre suas próprias condições de vida e trabalho e, assim, sobre seus direitos.The aim of this paper is to study a recent phenomenon in Brazilian labor history, called slave-like labor, characterized as crime by the penal code since 1940. Since it is a phenomenon that afflicts all continents, it is found in countries with distinct levels of development. Contemporary slave labor, as it is also known, has been targeted by the ILO and has resulted in the design of public policy to extinguish it. In Brazil the work carried out by the Mobile Labor Inspection Groups from the Ministry of Labor and Employment, and the Catholic Church, through the Pastoral Commission of Land, have been most important in making accusations related to this phenomenon and to its repression. In spite of the immense difficulties involved, the Brazilian state has achieved positive results, including an increased awareness among workers subjected to this practice about their own lives and working conditions and, thus, about their rights.

  13. Women's motivation to become dentists in Brazil.

    Science.gov (United States)

    Kfouri, Maria G; Moyses, Samuel J; Moyses, Simone Tetu

    2013-06-01

    There has been a marked increase of women in dentistry in Brazil and in many countries around the world. The behavioral mechanisms behind the choice of career differ between men and women, and the inclination to care for others is thought by some to be more present in women than it is in men. This article discusses the reasons that lead women to choose dentistry as a profession in Brazil and the impact of feminization on the current and future profile of the profession, based on the ethics of care. The authors' review of the relevant literature published between 2000 and 2011, primarily in Brazil, suggests that whereas men have tended to choose dentistry as a good business opportunity, women have tended to base their decision on relations with other people and the flexibility of practicing the profession. Many women dentists have been found to decide to work fewer hours, report more interruptions in their activities, and have less preference to work in private practice than men dentists. In the view of service users and dental auxiliaries in Brazil, women dentists invest more time in their patients and communicate in a more pleasant, sensitive, and friendly manner. The conclusion suggests that characteristics often associated with women can affect the dental profession in Brazil by introducing greater concern with the promotion of health and other people's well-being in contrast to traditional dentistry based on curative procedures.

  14. Mutational specificity of γ-rays

    International Nuclear Information System (INIS)

    The aim of the study described in this thesis was to get more information on the mutagenic properties of radiation-induced DNA modifications and the possible mechanisms involved in radiation-induced mutagenesis, principally by investigating the kinds of mutations by DNA sequence analysis. The mutations were analyzed after γ-irradiation of recombinant bacteriophage M13 and plasmide pUC DNA in diluted aqueous solutions, followed by transfection or transformation to E. coli cells, in which the damaged DNA molecules are repaired and replicated. Error-prone repair, misrepair or bypass of lesions during replication may lead to the introduction of mutations. Both the M13 and the plasmid DNA used in our mutation studies contain a mutation target sequence, which makes an easy selection and sequence analysis of mutant DNA molecules possible. Under the radiation conditions used, e.g. irradiation of diluted aqueous DNA solutions, only DNA damage occurs introduced by the water derived OH* and H* radicals and the hydrated electrons. By using different gas conditions during irradiation the relative yields of these reaction species can be manipulated, which opens up the opportunity to determine their effects separately. The mutation spectrum obtained in double-stranded (ds) M13DNA after irradiation under oxic conditions and the mutation spectrum obtained under the same conditions and in the same mutation target but cloned in plasmid DNA, are described. The mutation specificity under anoxic conditions in ds M13DNA is given. Results obtained after irradiation of ds M13DNA under N2 conditions are discussed together with experiments with single-stranded DNA. Similarities and differences between radiation-induced mutation spectra obtained by other groups and those presented in this thesis are discussed. (author). 155 refs.; 134 figs.; 16 tabs

  15. Mutations affecting gyrase in Haemophilus influenzae

    Energy Technology Data Exchange (ETDEWEB)

    Setlow, J.K.; Cabrera-Juarez, E.; Albritton, W.L.; Spikes, D.; Mutschler, A.

    1985-11-01

    Mutants separately resistant to novobiocin, coumermycin, nalidixic acid, and oxolinic acid contained gyrase activity as measured in vitro that was resistant to the antibiotics, indicating that the mutations represented structural alterations of the enzyme. One Novr mutant contained an altered B subunit of the enzyme, as judged by the ability of a plasmid, pNov1, containing the mutation to complement a temperature-sensitive gyrase B mutation in Escherichia coli and to cause novobiocin resistance in that strain. Three other Novr mutations did not confer antibiotic resistance to the gyrase but appeared to increase the amount of active enzyme in the cell. One of these, novB1, could only act in cis, whereas a new mutation, novC, could act in trans. An RNA polymerase mutation partially substituted for the novB1 mutation, suggesting that novB1 may be a mutation in a promoter region for the B subunit gene. Growth responses of strains containing various combinations of mutations on plasmids or on the chromosome indicated that low-level resistance to novobiocin or coumermycin may have resulted from multiple copies of wild-type genes coding for the gyrase B subunit, whereas high-level resistance required a structural change in the gyrase B gene and was also dependent on alteration in a regulatory region. When there was mismatch at the novB locus, with the novB1 mutation either on a plasmid or the chromosome, and the corresponding wild-type gene present in trans, chromosome to plasmid recombination during transformation was much higher than when the genes matched, probably because plasmid to chromosome recombination, eliminating the plasmid, was inhibited by the mismatch.

  16. Metátese de olefinas no Brasil: "Brazil is romping it!" Olefin metathesis in Brazil: Brazil is romping it!

    Directory of Open Access Journals (Sweden)

    José Milton E. Matos

    2007-04-01

    Full Text Available Some aspects of the olefin metathesis reactions are summarized here (types of reactions, mechanism and catalysts. In particular, the research groups that have been working on this chemistry in Brazil are presented. The main goal of this paper is to make this type of reaction more widely known in the Brazilian chemical community.

  17. Análise da mutação G20210A no gene da protrombina (fator II em pacientes com suspeita de trombofilia no sul do Brasil Analysis of prothrombin G20210A mutation (factor II in patients with suspected trombophilia in Southern Brazil

    Directory of Open Access Journals (Sweden)

    Marcos Edgar Herkenhoff

    2012-04-01

    with thrombophilia. This allelic variant is a single mutation, also denominated single nucleotide polymorphism (SNP, in which guanine is replaced with adenine in the messenger ribonucleic acid (mRNA cleavage of nucleotide 20210. The replacement is characterized by the presence of allele A and the absence of mutation in allele G. OBJECTIVE: To quantify the number of individuals homozygous for allele G, allele A and heterozygotes. The samples were collected in Paraná and Santa Catarina from January 1st, 2009 to October 10th, 2010 and were sent to Genolab Análises Genéticas. METHODS: Analysis of single mutation by polymerase chain reaction in real time (RT-PCR. RESULTS: From 243 individuals, 51.03% were from Paraná and 48.97% were from Santa Catarina. 88.89% individuals were homozygous for G genotype, none of them were homozygous for A. Only 11.11% were heterozygotes. Santa Catarina presented a higher frequency in heterozygous genotype in comparison with Paraná. CONCLUSION: This study showed that patients with suspected thrombophilia should undergo genotype identification in both states.

  18. Particle Swarm Optimization with Adaptive Mutation

    Institute of Scientific and Technical Information of China (English)

    LU Zhen-su; HOU Zhi-rong; DU Juan

    2006-01-01

    A new adaptive mutation particle swarm optimizer,which is based on the variance of the population's fitness,is presented in this paper.During the rtmning time,the mutation probability for the current best particle is determined by two factors:the variance of the population's fitness and the current optimal solution.The ability of particle swarm optimization (PSO) algorithm to break away from the local optimum is greatly improved by the mutation.The experimental results show that the new algorithm not only has great advantage of convergence property over genetic algorithm and PSO,but can also avoid the premature convergence problem effectively.

  19. Situação atual da filariose bancroftiana na cidade de Maceió, estado de Alagoas, Brasil Present status of bancroftian filariasis in Maceió, State of Alagoas, Brazil

    Directory of Open Access Journals (Sweden)

    Gilberto Fontes

    Full Text Available Com o objetivo de determinar a prevalência e a distribuição da filariose linfática bancroftiana na área urbana de Maceió, estado de Alagoas, assim como identificar os insetos vetores na região, foram realizados inquéritos hemoscópicos e entomológicos. Foram examinadas, pelo método da gota espessa, amostras de sangue de 10.450 escolares oriundos de diferentes regiões da cidade, sendo detectado 0,66% de indivíduos microfilarêmicos por Wuchereria bancrofti. A parasitose tem distribuição focal com 80% dos indivíduos com infecção patente detectados em duas regiões vizinhas, cujas prevalências atingiram 1,24% e 5,25%. Estudos paralelos feitos em amostras populacionais com indivíduos de diferentes faixas etárias mostraram prevalências semelhantes às detectadas entre os escolares. No entanto, o exame dos familiares de indivíduos infectados pela W. bancrofti mostrou prevalência seis vezes mais alta, sugerindo maior transmissão no intradomicílio. A percentagem de parasitados foi maior no grupo etário mais jovem (Epidemiological and entomological surveys were carried out in the human and mosquito populations in Maceió, Alagoas, in order to assess the present status of bancroftian lymphatic filariasis. Examination of thick blood smears of 10,450 students from different areas of the city revealed 0.66% Wuchereria bancrofti microfilaria carriers. The distribution of filariasis is focal in the city, 80% of the individuals with patent infection living in two neighboring areas with 1.24% and 5.25% prevalence. Parallel studies performed with samples of all age groups in the human population showed similar microfilaria prevalence rates observed previously in the student survey. However, thick blood smears taken from members of families with at least one subject with patent infection gave a prevalence six times greater suggesting, increased transmission in households. The percentage of carriers was higher in the youngest age group

  20. Familial Alzheimer's disease with presenilin 1 gene mutation presenting as dementia with Lewy bodies%具有路易体痴呆样临床表现的早老素-1基因突变家族性阿尔茨海默病一家系

    Institute of Scientific and Technical Information of China (English)

    李珺; 贾树红; 乔亚男; 王康; 顾卫红; 钱端; 焦劲松; 金淼

    2016-01-01

    Objective To analyze the phenotype and genetics in a Chinese pedigree with clinical manifestation of dementia with Lewy bodies (DLB).Methods The clinical manifestations and auxiliary examination results were analyzed for the proband who had a dementia family history and his daughter.Peripheral blood of the proband,his daughter and 100 normal Chinese individuals was collected,and genomic DNA was extracted.PCR-sequencing of presenilin 1 (PSEN1) and microtubule-associated protein tau (MAPT) genes was performed.Results Three members of this family had the clinical manifestations of fluctuating cognitive impairment,parkinsonian symptoms and vivid visual hallucination,presenting as DLB.Sequencing results revealed that the proband and his daughter were heterozygous for a mutation 1 292 in exon 12 of PSEN1,causing the amino acid substitution Ala431Val.MAPT gene mutation was not found.No similar PSEN1 gene mutation was found in the normal control individuals examined.Conclusions We identified a mutation Ala431Val in the PSEN1 gene in Chinese patients.Familial Alzheimer's disease caused by PSEN1 mutation can present as DLB.%目的 研究1个有路易体痴呆样表现的早老素-1基因突变阿尔茨海默病家系的临床表现及存在的基因突变.方法 分析该家系中患者的临床表现及辅助检查结果,采集先证者及其女儿的血样,并选100名健康体检者设立健康对照,提取基因组DNA,采用直接测序法进行早老素-1、微管相关蛋白tau(MAPT)基因检测.结果 该家系中有3名成员具有路易体痴呆样临床表现,先证者及其女儿的早老素-1基因第12号外显子第1 292位碱基均发生变异(C→T),导致第431位密码子编码的氨基酸由Ala变为Val.MAPT基因未发现致病突变.健康对照组未发现相似的早老素-1基因突变.结论 该家系早老素-1基因发生A431V突变,证实在中国人群存在这一突变现象并且导致发病.该基因变异导致的家族性阿尔茨海默病

  1. Optimization, water reuse and biomass energy potential from waste water poultry slaughterhouse in Matelandia-Parana, Brazil; Otimizacao, reuso de agua e potencial energetico da biomassa presente nas aguas residuarias de abatedouro de aves em Matelandia, Parana

    Energy Technology Data Exchange (ETDEWEB)

    Formentini, Diana Fatima [Fundacao Parque Tecnologico de Itaipu (PTI), Foz do Iguacu, PR (Brazil)], E-mail: mpbambiental@yahoo.com.br; Costanzi, Ricardo Nagamine [Universidade Federal Tecnologica do Parana (UFTPR), PR (Brazil)

    2010-07-01

    The alternative sources for energy generation through anaerobic digestion assist in reducing emissions of greenhouse gases and increase the efficiency removing wastewater organic load. This study aimed to identify opportunities for optimization and water reuse in industry and energy potential of biomass present in wastewater from poultry slaughterhouse in Matelandia Parana state, through the anaerobic digestion process. The company slaughtered 130,000 poultries d{sup -1} and generates a wastewater flow of 3,398.77 m{sup 3}.d{sup -}1. Measurements of water consumption were made by water meters installed at seven points of the production process, which resulted in consumption values by sector. The treatment system used consists of pre-treatment in sieve flotator static and physical, followed by stabilization ponds. Two anaerobic ponds were covered with a geo membrane and installed a gas meter to measure the flow of biogas production. The average production of biogas produced in each month was approximately 2,100 m{sup 3}. The use of biomass poultry slaughterhouse is viable for generating electricity and that you can reuse 255.80 m{sup 3}.d{sup -1}. (author)

  2. Zika: Why Brazil, Why Now

    Science.gov (United States)

    ... medlineplus.gov/news/fullstory_160251.html Zika: Why Brazil, Why Now Several factors -- including economics, climate and ... 5, 2016 THURSDAY, Aug. 4, 2016 (HealthDay News) -- Brazil, by a wide margin, has been the country ...

  3. Assessing Higher Education Learning Outcomes in Brazil

    Science.gov (United States)

    Pedrosa, Renato H. L.; Amaral, Eliana; Knobel, Marcelo

    2013-01-01

    Brazil has developed an encompassing system for quality assessment of higher education, the National System of Higher Education Evaluation (SINAES), which includes a test for assessing learning outcomes at the undergraduate level, the National Exam of Student Performance (ENADE). The present system has been running since 2004, and also serves as…

  4. IBM Brazil: and environmental modern view

    Energy Technology Data Exchange (ETDEWEB)

    Cremonesi, Valter [IBM Brasil, Industria, Maquinas e Servicos Ltda., Rio de Janeiro, Rj (Brazil)

    1993-12-31

    Information of practical experiences on Environmental Affairs at IBM Brazil plant and branch offices is presented, with a modern view of the mission, resources, support, waste management, monitoring programs, recycling, energy conservation, partners programs, nature preservation 2rograms, recognitions and image. (author). 4 figs., 2 tabs.

  5. Challenges for malaria elimination in Brazil.

    Science.gov (United States)

    Ferreira, Marcelo U; Castro, Marcia C

    2016-01-01

    Brazil currently contributes 42 % of all malaria cases reported in the Latin America and the Caribbean, a region where major progress towards malaria elimination has been achieved in recent years. In 2014, malaria burden in Brazil (143,910 microscopically confirmed cases and 41 malaria-related deaths) has reached its lowest levels in 35 years, Plasmodium falciparum is highly focal, and the geographic boundary of transmission has considerably shrunk. Transmission in Brazil remains entrenched in the Amazon Basin, which accounts for 99.5 % of the country's malaria burden. This paper reviews major lessons learned from past and current malaria control policies in Brazil. A comprehensive discussion of the scientific and logistic challenges that may impact malaria elimination efforts in the country is presented in light of the launching of the Plan for Elimination of Malaria in Brazil in November 2015. Challenges for malaria elimination addressed include the high prevalence of symptomless and submicroscopic infections, emerging anti-malarial drug resistance in P. falciparum and Plasmodium vivax and the lack of safe anti-relapse drugs, the largely neglected burden of malaria in pregnancy, the need for better vector control strategies where Anopheles mosquitoes present a highly variable biting behaviour, human movement, the need for effective surveillance and tools to identify foci of infection in areas with low transmission, and the effects of environmental changes and climatic variability in transmission. Control actions launched in Brazil and results to come are likely to influence control programs in other countries in the Americas. PMID:27206924

  6. PREFACE: Brazil MRS Meeting 2014

    Science.gov (United States)

    2015-11-01

    The annual meetings, organized by the Brazilian materials research society - B-MRS, are amongst the most import discussion forums in the area of materials science and engineering in Brazil, with a growing interest from the national and international scientific society. In the last 4 years, more than 1,500 participants have attended the B-MRS meetings, promoting an auspicious environment for presentation and discussion of scientific and technological works in the materials science area. The XIII Brazilian Materials Research Society Meeting was held from 28 September to 02 October, 2014, in João Pessoa, PB, Brazil. The Meeting congregated more than 1650 participants from the whole of Brazil and from 28 other countries. More than 2100 abstracts were accepted for presentation, distributed along 19 Symposia following the format used in traditional meetings of Materials Research Societies. These involved topics such as: synthesis of new materials, computer simulations, optical, magnetic and electronic properties, traditional materials as clays and cements, advanced metals, carbon and graphene nanostructures, nanomaterials for nanostructures, energy storage systems, composites, surface engineering and others. A novelty was a symposium dedicated to innovation and technology transfer in materials research. The program also included 7 Plenary Lectures presented by internationally renowned researchers: Alberto Salleo from Stanford University, United States of America; Roberto Dovesi from Universita' degli Studi di Torino, Italy; Luís Antonio F. M. Dias Carlos from Universidade de Aveiro, Portugal; Jean Marie Dubois from Institut Jean-Lamour, France; Sir Colin Humphreys from University of Cambridge, England; Karl Leo from Technische Universität Dresden, Germany; Robert Chang from Northwestern University, Evanston, United States of America. The numbers of participants in the B-MRS meetings have been growing continuously, and in this meeting we had almost 2200 presentations

  7. Corporate Governance Country Assessment : Brazil

    OpenAIRE

    World Bank

    2012-01-01

    This report assesses Brazil's corporate governance policy framework. It highlights recent improvements in corporate governance regulation, makes policy recommendations, and provides investors with a benchmark against which to measure corporate governance in Brazil. It is an update of the 2005 corporate governance Report on the Observance of Standards and Codes (ROSC). Brazil's experience o...

  8. CATCHY PRESENTATIONS

    DEFF Research Database (Denmark)

    Eriksen, Kaare; Tollestrup, Christian; Ovesen, Nis

    2011-01-01

    An important competence for designers is the ability to communicate and present ideas and proposals for customers, partners, investors and colleagues. The Pecha Kucha principle, developed by Astrid Klein and Mark Dytham, has become a widely used and easy format for the presentation of new concepts...... and ideas in many areas and avoiding “Death by Powerpoint”. This paper discusses the need and tools for making short presentations and describes the result from a business development project where engineering graduate students in architecture and design used the Pecha Kucha format to present...

  9. Induced mutations - a tool in plant research

    International Nuclear Information System (INIS)

    These proceedings include 34 papers and 18 brief descriptions of poster presentations in the following areas as they are affected by induced mutations: advancement of genetics, plant evolution, plant physiology, plant parasites, plant symbioses, in vitro culture, gene ecology and plant breeding. Only a relatively small number of papers are of direct nuclear interest essentially in view of the mutations being induced by ionizing radiations. The papers of nuclear interest have been entered as separate and individual items of input

  10. Situação atual da fluoretação de águas de abastecimento público no Estado de São Paulo - Brasil The present position on fluoridation of water for human consumption in S. Paulo State, Brazil

    Directory of Open Access Journals (Sweden)

    Osvaldo C. Buendia

    1983-06-01

    Full Text Available Destacando alguns fatos relacionados com a evolução da fluoretação de águas no Estado de São Paulo (Brasil, foram citadas Leis, Decretos e Portarias que amparam a incrementação do método. Foram citados os órgãos públicos que vêm dando assistência à implantação de sistemas de fluoretação, posicionando a ação desenvolvida por eles, cuja cobertura é de 25,39% do total dos municípios. Foram relacionadas nominalmente as 145 cidades com água fluoretada até o momento, com o composto utilizado, o órgão que implantou o sistema, a população beneficiada e o custo/hab./ano.With a view to bringing out some facts connected with the progress achieved in water fluoridation in the State of S. Paulo, Brazil, the paper quotes laws, decrees and other legal acts which form the basis for the spread of the method. The public agencies which are assisting in the implantation of fluoridation systems, are quoted and the action, covering 23.39% of all communities, which has been taken by them is discribed. The list of 145 communities fluoridated up to the present, the composite used, the implanting agency, the population benefited and cost/individual/year, are presented.

  11. Predicting Resistance Mutations Using Protein Design Algorithms

    Energy Technology Data Exchange (ETDEWEB)

    Frey, K.; Georgiev, I; Donald, B; Anderson, A

    2010-01-01

    Drug resistance resulting from mutations to the target is an unfortunate common phenomenon that limits the lifetime of many of the most successful drugs. In contrast to the investigation of mutations after clinical exposure, it would be powerful to be able to incorporate strategies early in the development process to predict and overcome the effects of possible resistance mutations. Here we present a unique prospective application of an ensemble-based protein design algorithm, K*, to predict potential resistance mutations in dihydrofolate reductase from Staphylococcus aureus using positive design to maintain catalytic function and negative design to interfere with binding of a lead inhibitor. Enzyme inhibition assays show that three of the four highly-ranked predicted mutants are active yet display lower affinity (18-, 9-, and 13-fold) for the inhibitor. A crystal structure of the top-ranked mutant enzyme validates the predicted conformations of the mutated residues and the structural basis of the loss of potency. The use of protein design algorithms to predict resistance mutations could be incorporated in a lead design strategy against any target that is susceptible to mutational resistance.

  12. [A better Brazil].

    Science.gov (United States)

    Lesser, Jeffrey

    2014-01-01

    Many countries in the Americas describe themselves as "nations of immigrants." In the United States, the myth of the "promised land" suggests that foreigners better themselves upon arrival because the nation is intrinsically great. In Brazil, however, the relationship between immigration and national identity is different. Many intellectuals, politicians, and cultural and economic leaders saw (and see) immigrants as improving an imperfect nation that has been tainted by the history of Portuguese colonialism and African slavery. As a result, immigrants were often hailed as saviors because they modified and improved Brazil, not because they were improved by Brazil. This "improvement" took place through absorption, mixture and with the use of increasingly flexible racial and ethnic categories.

  13. Liver Transplantation in Brazil.

    Science.gov (United States)

    Bittencourt, Paulo Lisboa; Farias, Alberto Queiroz; Couto, Claudia Alves

    2016-09-01

    Over 1700 liver transplantations (LTs) are performed annually in Brazil. In absolute terms, the country performs more LT surgeries than anywhere else in Latin America and is third worldwide. However, due to its increasing population and inadequate donor organ supply, the country averages 5-10 LTs per million population, far lower than required. There is a marked heterogeneity in organ donation and LT activity throughout the country. Access to LT in the underprivileged North, Midwest, and Northeast regions of Brazil is scarce. Major challenges for the future of LT in Brazil will be to increase organ donation and access to LT. The reduction of those geographical disparities in donation, organ procurement, and LT due to political and financial constraints is of utmost importance. Liver Transplantation 22 1254-1258 2016 AASLD. PMID:27228568

  14. Estudo de mutações causadoras de cardiomiopatia hipertrófica em um grupo de pacientes no Espírito Santo, Brasil Estudio de mutaciones causadoras de cardiomiopatía hipertrófica en un grupo de pacientes en Espírito Santo, Brasil Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil

    Directory of Open Access Journals (Sweden)

    Júlia Daher Carneiro Marsiglia

    2010-01-01

    un grupo de pacientes en el estado de Espírito Santo, Brasil. MÉTODOS: Usando la técnica SSCP, se estudiaron 12 exones de los tres principales genes involucrados con la CH: exones 15, 20, 21, 22 y 23 del gen de la cadena pesada de la β-miosina (MYH7, exones 7, 16, 18, 22 y 24 del gen de la proteína C unida a la miosina (MYBPC3 y exones 8 y 9 del gen de la troponina T (TNNT2. RESULTADOS: Se encontraron 16 alteraciones, incluyendo dos mutaciones, una de ellas posiblemente patogénica en el gen MYBPC3 gen (p. Glu441Lys y otra patogénica ya descrita en el gen TNNT2 (p. Arg92Trp; 8 variaciones de secuencia raras y 6 variaciones de secuencia con frecuencia alélica mayor que el 1% (polimorfismos. CONCLUSIONES: Con estos datos, es posible concluir que el genotipaje de los pacientes es factible en nuestro medio. Es posible que la variante p.Glu441Lys en el exón 16 del gen MYBPC3 sea patogénica, resultando en un fenotipo más leve que el encontrado en asociación con otras mutaciones. La variante p.Arg92Trp en el exón 9 del gen TNNT2 no resulta en un fenotipo tan homogéneo como el descrito anteriormente y puede llevar a hipertrofia grave.BACKGROUND: Hypertrophic cardiomyopathy (HC is the most frequent cardiac hereditary disease, caused by mutations in sarcomere protein coding genes. Although more than 430 mutations have been identified in several continents and countries, there have been no reports of mutations in Brazil. OBJECTIVE: To carry out a genetic study to identify genetic mutations that cause HC in a group of patients in Espirito Santo, Brazil. METHODS: Using the SSCP technique, 12 exons from the three main genes involved in HC were studied: exons 15, 20, 21, 22 and 23 of the β-myosin heavy chain gene (MYH7, exons 7, 16, 18, 22 and 24 of the myosin binding protein C gene (MYBPC3 and exons 8 and 9 of troponin T gene (TNNT2. RESULTS: 16 alterations were found, including two mutations, one of them possibly pathogenic in the MYBPC3 gene (p. Glu441Lys and

  15. Geodiversity and geoconservation in Brazil

    Science.gov (United States)

    Cardozo Moreira, Jasmine; Muggler, Cristine Carole

    2014-05-01

    Brazil is a large country with a wide diversity of landscapes and geological features and has been an important world producer of mineral resources. Despite this, until the 90's of last century, there has not been much concern and policies about geological heritage and geoconservation. Only at the end of the century the National Geological Service (CPRM) included the physical characterization of areas with geotouristic interest in its mission of generation and diffusion of geological information. In 1997, was created the Brazilian Commission of Geological and Paleobiological Sites (SIGEP, http://sigep.cprm.gov.br), responsible for the assessment, description and publicizing the sites of geological heritage. This is by now the most comprehensive and relevant initiative to protect the national heritage. It is composed by a fully accessible national database composed by 167 certified sites presented as scientific papers. Furthermore, a web-based applicative for the inventory and protection of geological heritage sites is being developed by the National Geological Service. The wider knowledge about geological heritage can be a useful tool for its conservation and this has been an important goal in the creation of protected areas, by means of environmental education and tourism. In Brazil, actions, research and publications about the subject have increased in the last five years, as well as the outreach and responsible use of the geological heritage. Scientific meetings, conferences and courses are growing and spreading around the country. The main scientific meeting has been the Brazilian Symposium of Geological Heritage that in its second edition (2013) had more than 200 papers presented. At that meeting it was also created the Association in Defence of the Geomining Heritage and the Association of Aspiring Geoparks. Brazil has only one geopark in the Unesco's Global Geopark Network, that is the Araripe Geopark, created in 2006. By the moment, propositions are being

  16. Gastrointestinal stromal tumor in Brazil: clinicopathology, immunohistochemistry, and molecular genetics of 513 cases.

    Science.gov (United States)

    Lopes, Lisandro Ferreira; Ojopi, Elida B; Bacchi, Carlos E

    2008-06-01

    The aim of the present study was to evaluate the clinicopathological, immunohistochemical, and molecular genetic features of gastrointestinal stromal tumors in Brazil and compare them with cases from other countries. Five hundred and thirteen cases were retrospectively analyzed. HE-stained sections and clinical information were reviewed and the immunohistochemical expression of CD117, CD34, smooth-muscle actin, S-100 protein, desmin, CD44v3 adhesion molecule, p53 protein, epidermal growth factor receptor, and Ki-67 antigen was studied using tissue microarrays. Mutation analysis of KIT and platelet-derived growth factor receptor-alpha genes was also performed. There was a slight female predominance (50.3%) and the median age at diagnosis was 59 years. The tumors were mainly located in the stomach (38.4%). Immunohistochemistry showed that CD117 was expressed in 95.7% of cases. Epidermal growth factor receptor expression was observed in 84.4% of tumors. p53 protein expression was found only in 2.6% of cases but all belonged to the high-risk group for aggressive behavior according to the National Institutes of Health consensus approach. No CD44v3 adhesion molecule expression was detected. KIT exon 11 mutations were the most frequent (62.2%). The present data confirm that gastrointestinal stromal tumors in Brazilian patients do not differ from tumors occurring in other countries.

  17. Ethnozoology in Brazil: current status and perspectives

    Directory of Open Access Journals (Sweden)

    Alves Rômulo RN

    2011-07-01

    Full Text Available Abstract Ancient connections between animals and human are seen in cultures throughout the world in multiple forms of interaction with the local fauna that form the core of Ethnozoology. Historically, ethnozoological publications grew out of studies undertaken in academic areas such as zoology, human ecology, sociology and anthropology - reflecting the interdisciplinary character of this discipline. The rich fauna and cultural diversity found in Brazil, with many different species of animals being used for an extremely wide diversity of purposes by Amerindian societies (as well as the descendents of the original European colonists and African slaves, presents an excellent backdrop for examining the relationships that exist between humans and other animals. This work presents a historical view of ethnozoological research in Brazil and examines its evolution, tendencies, and future perspectives. In summary, literature researches indicated that ethnozoology experienced significant advances in recent years in Brazil, although from a qualitative point of view improvement is still needed in terms of methodological procedures, taxonomic precision, and the use of quantitative techniques. A wide range of methodologies and theories are available in different areas of learning that can be put to good use in ethnozoological approaches if the right questions are asked. The challenges to studying ethnozoology in Brazil are not insignificant, and the tendencies described in the present study may aid in defining research strategies that will maintain the quantitative growth observed in the recent years but likewise foster needed qualitative improvements.

  18. Mutations in Lettuce Improvement

    OpenAIRE

    2012-01-01

    Lettuce is a major vegetable in western countries. Mutations generated genetic variations and played an important role in the domestication of the crop. Many traits derived from natural and induced mutations, such as dwarfing, early flowering, male sterility, and chlorophyll deficiency, are useful in physiological and genetic studies. Mutants were also used to develop new lettuce products including miniature and herbicide-tolerant cultivars. Mutant analysis was critical in lettuce genomic stu...

  19. Mutation breeding in peas

    International Nuclear Information System (INIS)

    The pea as an ancient crop plant still today has wide uses and is an import source of food protein. It is also an important object for genetic studies and as such has been widely used in mutation induction experiments. However, in comparison with cereals this ancient crop plant (like several other grain legumes) has gained relatively little from advances in breeding. The review focuses on the prospects of genetic improvement of pea by induced mutations, discusses principles and gives methodological information. (author)

  20. Zika virus infections imported from Brazil to Portugal, 2015

    Directory of Open Access Journals (Sweden)

    L. Zé-Zé

    2016-01-01

    Here, we present the clinical and laboratory aspects related to the first four imported human cases of Zika virus in Portugal from Brazil, and alert, regarding the high level of traveling between Portugal and Brazil, and the ongoing expansion of this virus in the Americas, for the threat for Zika virus introduction in Europe and the possible introduction to Madeira Island where Aedes aegypti is present.

  1. Technological Strategies of Transnational Corporations Affiliates in Brazil

    OpenAIRE

    Eliane Franco; Ruy de Quadros Carvalho

    2004-01-01

    This paper presents an analysis of the technological efforts made by Transnational Corporations(1) (TNCs) affiliates in Brazil. Many studies have indicated that most TNCs concentrate their main technological activities in their home, developed countries. However, empirical investigation has shown TNC affiliates in Brazil have presented a higher profile than local firms in terms of both innovative performance and R&D efforts. This study is an attempt to examine the technological efforts of TNC...

  2. Information Presentation

    Science.gov (United States)

    Holden, Kritina L.; Thompson, Shelby G.; Sandor, Aniko; McCann, Robert S.; Kaiser, Mary K.; Adelstein, Barnard D.; Begault, Durand R.; Beutter, Brent R.; Stone, Leland S.; Godfroy, Martine

    2009-01-01

    The goal of the Information Presentation Directed Research Project (DRP) is to address design questions related to the presentation of information to the crew. In addition to addressing display design issues associated with information formatting, style, layout, and interaction, the Information Presentation DRP is also working toward understanding the effects of extreme environments encountered in space travel on information processing. Work is also in progress to refine human factors-based design tools, such as human performance modeling, that will supplement traditional design techniques and help ensure that optimal information design is accomplished in the most cost-efficient manner. The major areas of work, or subtasks, within the Information Presentation DRP for FY10 are: 1) Displays, 2) Controls, 3) Procedures and Fault Management, and 4) Human Performance Modeling. The poster will highlight completed and planned work for each subtask.

  3. Subquivers of mutation-acyclic quivers are mutation-acyclic

    CERN Document Server

    Warkentin, Matthias

    2011-01-01

    Quiver mutation plays a crucial role in the definition of cluster algebras by Fomin and Zelevinsky. It induces an equivalence relation on the set of all quivers without loops and two-cycles. A quiver is called mutation-acyclic if it is mutation-equivalent to an acyclic quiver. The aim of this note is to show that full subquivers of mutation-acyclic quivers are mutation-acyclic.

  4. Progress of mutation breeding in Thailand

    International Nuclear Information System (INIS)

    The objectives in rice improvement in Thailand are to improve not only for high yielding and good grain quality but also for resistance to diseases and insects and tolerance to biotic stresses. Brief history of research and progress in rice mutation breeding in Thailand is presented. It includes the varieties of method such as using gamma rays, fast neutron and chemical mutagens, for example EMS (ethylmethane sulfonate) and EI (ethylene imine) for mutation works. Among all, improvements of Pathumthani 60 for short-statured plant type, RD23 for blast resistance, Basmati 370 for short-statured plant type, and Pra Doo Daeng for short-statured plant type and awnless grain are reported. To conclude, it is important to find the adequate doses of mutagen treatments that give maximum mutation frequencies, to know the optimal treatments or proper selection methods and to have well-defined objectives to create the success of mutation breeding. (S. Ohno)

  5. Transmitted Drug Resistance among People Living with HIV/Aids at Major Cities of Sao Paulo State, Brazil

    Directory of Open Access Journals (Sweden)

    Joao Leandro Paula Ferreira

    2013-01-01

    Full Text Available Human immunodeficiency virus type 1 (HIV-1 transmitted drug resistance (TDR is an important public health issue. In Brazil, low to intermediate resistance levels have been described. We assessed 225 HIV-1 infected, antiretroviral naïve individuals, from HIV Reference Centers at two major metropolitan areas of Sao Paulo (Sao Paulo and Campinas, the state that concentrates most of the Brazilian Aids cases. TDR was analyzed by Stanford Calibrated Population Resistance criteria (CPR, and mutations were observed in 17 individuals (7.6%, 95% CI: 4.5%–11.9%. Seventy-six percent of genomes (13/17 with TDR carried a nonnucleoside reverse transcriptase inhibitor (NNRTI resistance mutation, mostly K103N/S (9/13, 69%, potentially compromising the preferential first-line therapy suggested by the Brazilian HIV Treatment Guideline that recommends efavirenz-based combinations. Moreover, 6/17 (35% had multiple mutations associated with resistance to one or more classes. HIV-1 B was the prevalent subtype (80%; other subtypes include HIV-1 F and C, mosaics BC, BF, and single cases of subtype A1 and CRF02_AG. The HIV Reference Center of Campinas presented more cases with TDR, with a significant association of TDR with clade B infection (P<0.05.

  6. Chikungunya risk for Brazil

    Directory of Open Access Journals (Sweden)

    Raimunda do Socorro da Silva Azevedo

    2015-01-01

    Full Text Available This study aimed to show, based on the literature on the subject, the potential for dispersal and establishment of the chikungunya virus in Brazil. The chikungunya virus, a Togaviridae member of the genusAlphavirus, reached the Americas in 2013 and, the following year, more than a million cases were reported. In Brazil, indigenous transmission was registered in Amapa and Bahia States, even during the period of low rainfall, exposing the whole country to the risk of virus spreading. Brazil is historically infested by Ae. aegypti and Ae. albopictus, also dengue vectors. Chikungunya may spread, and it is important to take measures to prevent the virus from becoming endemic in the country. Adequate care for patients with chikungunya fever requires training general practitioners, rheumatologists, nurses, and experts in laboratory diagnosis. Up to November 2014, more than 1,000 cases of the virus were reported in Brazil. There is a need for experimental studies in animal models to understand the dynamics of infection and the pathogenesis as well as to identify pathophysiological mechanisms that may contribute to identifying effective drugs against the virus. Clinical trials are needed to identify the causal relationship between the virus and serious injuries observed in different organs and joints. In the absence of vaccines or effective drugs against the virus, currently the only way to prevent the disease is vector control, which will also reduce the number of cases of dengue fever.

  7. Adult Education in Brazil.

    Science.gov (United States)

    Ministerio da Educacao e Cultura, Rio de Janeiro (Brazil).

    The status and goals of adult education programs in Brazil are discussed in this report. Supplemental systems such as the Brazilian Literacy Movement (Mobral) and their results are described and evaluated. Charts detailing the evolution of literacy are shown and priorities in education are suggested. The progress of other educational entities is…

  8. English Teaching Profile: Brazil.

    Science.gov (United States)

    British Council, London (England). English Language and Literature Div.

    This review of the status of English language instruction in Brazil provides an overview of the Brazilian geographic, historical, and political context and the role of English in the society in general and in the educational system. The following topics are covered: an outline of the status of English use and instruction in the educational system…

  9. Lecture Presentations

    International Nuclear Information System (INIS)

    The Symposium on Physics of Elementary Interactions in the LHC Era held in Warsaw from 21 to 22 April 2008. The main subject of the workshop was to present the progress in CERN LHC collider project. Additionally some satellite activities in field of education, knowledge and technology transfer in the frame of CERN - Poland cooperation were shown

  10. Voting Present

    Directory of Open Access Journals (Sweden)

    James Lo

    2013-12-01

    Full Text Available During his time as a state senator in Illinois, Barack Obama voted “Present” 129 times, a deliberate act of nonvoting that subsequently became an important campaign issue during the 2008 presidential elections. In this article, I examine the use of Present votes in the Illinois state senate. I find evidence that Present votes can largely be characterized as protest votes used as a legislative tool by the minority party. Incorporating information from Present votes into a Bayesian polytomous item-response model, I find that this information increases the efficiency of ideal point estimates by approximately 35%. There is little evidence of significant moderation by Obama when Present votes are accounted for, though my results suggest that Obama’s voting record may have moderated significantly before his subsequent election to the U.S. Senate. My results also suggest that because legislative nonvoting may occur for a variety of reasons, naive inclusion of nonvoting behavior into vote choice models may lead to biased results.

  11. A new species of Decimiana Uvarov (Insecta, Mantodea, Acanthopidae from Brazil, with remarks on the distribution of Decimiana bolivari (Chopard

    Directory of Open Access Journals (Sweden)

    Eliomar Menezes

    2012-11-01

    Full Text Available Decimiana Uvarov is a Neotropical genus of Mantodea with five South American species, three of them known from Brazil: Decimiana tessellata (Charpentier; Decimiana clavata Ippolito & Lombardo; and Decimiana bolivari (Chopard. A fourth species from Brazil is described and new records of Decimiana bolivari (Chopard from Brazil are presented and its distribution discussed.

  12. TP53 mutation p.R337H in gastric cancer tissues of a 12-year-old male child - evidence for chimerism involving a common mutant founder haplotype: case report

    International Nuclear Information System (INIS)

    Gastric adenocarcinoma is rare in children and adolescents, with about 17 cases under age 21 in the world's literature. We report a case of invasive well-differentiated metastatic gastric cancer in a Brazilian 12-year-old boy without documented familial history of cancer. The patient, diagnosed with metastatic disease, died seven months after surgery. DNA from intra-surgical specimens revealed a TP53 mutation at codon 337 (p.R337H) in samples with neoplastic cells (dysplasia, tumor and metastasis) but not in non-transformed cells (incomplete intestinal metaplasia and non-involved celiac lymph node). In all mutation-positive tissues, p.R337H occurred on the same background, a founder allele identified by a specific haplotype previously described in Brazilian Li-Fraumeni syndrome patients. The same mutant haplotype, corresponding to a founder mutation present in 0.3% of the general population in Southern Brazil, was found in the genome of the father. Presence of this inherited haplotype in the tumor as well as in the father's germline, suggests a rare case of microchimerism in this patient, who may have harbored a small number of mutant cells originating in another individual, perhaps a dizygotic twin that died early in gestation. This case represents one of the earliest ages at diagnosis of gastric cancer ever reported. It shows that cancer inheritance can occur in the absence of an obvious germline mutation, calling for caution in assessing early cancers in populations with common founder mutations such as p.R337H in Southern Brazil

  13. Asian genotypes of dengue virus 4 in Brazil.

    Science.gov (United States)

    Pinho, A C O; Sardi, S I; Paula, F L; Peixoto, I B; Brandão, C J; Fernandez, F M C; Campos, G S

    2015-10-01

    Dengue virus, commonly transmitted by mosquitoes, causes a human disease of significant social impact and presents a serious public health problem in Brazil. This report describes the unusual emergence of DENV-4 in northern Brazil after a nearly 30-year-long absence. DENV-4 genotype I is of Asian origin and was identified in the serum of patients receiving treatment at a hospital serving the Salvador area (Brazilian state of Bahia). The identification of dengue virus serotypes through molecular and phylogenetic analysis is essential for predicting disease severity or fatal illness, principally in endemic countries such as Brazil.

  14. Spectrum of K ras mutations in Pakistani colorectal cancer patients

    Energy Technology Data Exchange (ETDEWEB)

    Murtaza, B.N.; Bibi, A. [School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore (Pakistan); Rashid, M.U.; Khan, Y.I. [Shaukat Khanum Memorial Cancer Hospital and Research Centre, Johar Town, Lahore (Pakistan); Chaudri, M.S. [Services Institute of Medical Sciences, Lahore (Pakistan); Shakoori, A.R. [School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore (Pakistan)

    2013-11-29

    The incidence of colorectal cancer (CRC) is increasing daily worldwide. Although different aspects of CRC have been studied in other parts of the world, relatively little or almost no information is available in Pakistan about different aspects of this disease at the molecular level. The present study was aimed at determining the frequency and prevalence of K ras gene mutations in Pakistani CRC patients. Tissue and blood samples of 150 CRC patients (64% male and 36% female) were used for PCR amplification of K ras and detection of mutations by denaturing gradient gel electrophoresis, restriction fragment length polymorphism analysis, and nucleotide sequencing. The K ras mutation frequency was found to be 13%, and the most prevalent mutations were found at codons 12 and 13. A novel mutation was also found at codon 31. The dominant mutation observed was a G to A transition. Female patients were more susceptible to K ras mutations, and these mutations were predominant in patients with a nonmetastatic stage of CRC. No significant differences in the prevalence of K ras mutations were observed for patient age, gender, or tumor type. It can be inferred from this study that Pakistani CRC patients have a lower frequency of K ras mutations compared to those observed in other parts of the world, and that K ras mutations seemed to be significantly associated with female patients.

  15. Technical presentation

    CERN Multimedia

    FI Department

    2008-01-01

    RADIOSPARES, the leading catalogue distributor of components (electronic, electrical, automation, etc.) and industrial supplies will be at CERN on Friday 3 October 2008 (Main Building, Room B, from 9.00 a.m. to 3.00 p.m.) to introduce its new 2008/2009 catalogue. This will be the opportunity for us to present our complete range of products in more detail: 400 000 part numbers available on our web site (Radiospares France, RS International, extended range of components from other manufacturers); our new services: quotations, search for products not included in the catalogue, SBP products (Small Batch Production: packaging in quantities adapted to customers’ requirements); partnership with our focus manufacturers; demonstration of the on-line purchasing tool implemented on our web site in conjunction with CERN. RADIOSPARES will be accompanied by representatives of FLUKE and TYCO ELECTRONICS, who will make presentations, demonstrate materials and answer any technical questio...

  16. Overview Presentation

    Science.gov (United States)

    Lytle, John

    2001-01-01

    This report provides an overview presentation of the 2000 NPSS (Numerical Propulsion System Simulation) Review and Planning Meeting. Topics include: 1) a background of the program; 2) 1999 Industry Feedback; 3) FY00 Status, including resource distribution and major accomplishments; 4) FY01 Major Milestones; and 5) Future direction for the program. Specifically, simulation environment/production software and NPSS CORBA Security Development are discussed.

  17. Nuclear research reactors in Brazil

    Energy Technology Data Exchange (ETDEWEB)

    Cota, Anna Paula Leite; Mesquita, Amir Zacarias, E-mail: aplc@cdtn.b, E-mail: amir@cdtn.b [Centro de Desenvolvimento da Tecnologia Nuclear (CDTN/CNEN-MG), Belo Horizonte, MG (Brazil)

    2011-07-01

    The rising concerns about global warming and energy security have spurred a revival of interest in nuclear energy, giving birth to a 'nuclear power renaissance' in several countries in the world. Particularly in Brazil, in the recent years, the nuclear power renaissance can be seen in the actions that comprise its nuclear program, summarily the increase of the investments in nuclear research institutes and the government target to design and build the Brazilian Multipurpose research Reactor (BMR). In the last 50 years, Brazilian research reactors have been used for training, for producing radioisotopes to meet demands in industry and nuclear medicine, for miscellaneous irradiation services and for academic research. Moreover, the research reactors are used as laboratories to develop technologies in power reactors, which are evaluated today at around 450 worldwide. In this application, those reactors become more viable in relation to power reactors by the lowest cost, by the operation at low temperatures and, furthermore, by lower demand for nuclear fuel. In Brazil, four research reactors were installed: the IEA-R1 and the MB-01 reactors, both at the Instituto de Pesquisas Energeticas Nucleares (IPEN, Sao Paulo); the Argonauta, at the Instituto de Engenharia Nuclear (IEN, Rio de Janeiro) and the IPR-R1 TRIGA reactor, at the Centro de Desenvolvimento da Tecnologia Nuclear (CDTN, Belo Horizonte). The present paper intends to enumerate the characteristics of these reactors, their utilization and current academic research. Therefore, through this paper, we intend to collaborate on the BMR project. (author)

  18. Brazil: World Oil Report 1991

    Energy Technology Data Exchange (ETDEWEB)

    1991-08-01

    This paper reports that Brazil's state oil company Petrobras has racked up a significant period of achievement over the last 12 months. Average daily oil production hit a new high. A small portion of deepwater giant Marlim field came onstream. Risk contracts ended, and the firm assumed all responsibility for exploration activity in Brazil. Furthermore, Santos basin proved to be the nation's most recent oil province after two discoveries. Last, but not least, Petrobras assumed a dominant position worldwide in development of new deepwater technology, as evidenced by papers presented at the 1991 Offshore Technology Conference. What is remarkable is that all this was achieved while the company was experiencing political turmoil. Last Oct. 19, Petrobras President Luis Octavio Motta Veiga resigned in a dispute with the Ministry of Economy (MOE) over refined product pricing levels. His replacement, interestingly enough, was the 36-year-old executive secretary of the MOE, Eduardo de Freitas Teixeira. His term at Petrobras lasted less than six months.

  19. The Mutations Associated with Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Ruti Parvari

    2012-01-01

    Full Text Available Cardiomyopathy is an important cause of heart failure and a major indication for heart transplantation in children and adults. This paper describes the state of the genetic knowledge of dilated cardiomyopathy (DCM. The identification of the causing mutation is important since presymptomatic interventions of DCM have proven value in preventing morbidity and mortality. Additionally, as in general in genetic studies, the identification of the mutated genes has a direct clinical impact for the families and population involved. Identifying causative mutations immediately amplifies the possibilities for disease prevention through carrier screening and prenatal testing. This often lifts a burden of social isolation from affected families, since healthy family members can be assured of having healthy children. Identification of the mutated genes holds the potential to lead to the understanding of disease etiology, pathophysiology, and therefore potential therapy. This paper presents the genetic variations, or disease-causing mutations, contributing to the pathogenesis of hereditary DCM, and tries to relate these to the functions of the mutated genes.

  20. TOX3 mutations in breast cancer.

    Directory of Open Access Journals (Sweden)

    James Owain Jones

    Full Text Available TOX3 maps to 16q12, a region commonly lost in breast cancers and recently implicated in the risk of developing breast cancer. However, not much is known of the role of TOX3 itself in breast cancer biology. This is the first study to determine the importance of TOX3 mutations in breast cancers. We screened TOX3 for mutations in 133 breast tumours and identified four mutations (three missense, one in-frame deletion of 30 base pairs in six primary tumours, corresponding to an overall mutation frequency of 4.5%. One potentially deleterious missense mutation in exon 3 (Leu129Phe was identified in one tumour (genomic DNA and cDNA. Whilst copy number changes of 16q12 are common in breast cancer, our data show that mutations of TOX3 are present at low frequency in tumours. Our results support that TOX3 should be further investigated to elucidate its role in breast cancer biology.

  1. Mutations in lettuce improvement.

    Science.gov (United States)

    Mou, Beiquan

    2011-01-01

    Lettuce is a major vegetable in western countries. Mutations generated genetic variations and played an important role in the domestication of the crop. Many traits derived from natural and induced mutations, such as dwarfing, early flowering, male sterility, and chlorophyll deficiency, are useful in physiological and genetic studies. Mutants were also used to develop new lettuce products including miniature and herbicide-tolerant cultivars. Mutant analysis was critical in lettuce genomic studies including identification and cloning of disease-resistance genes. Mutagenesis combined with genomic technology may provide powerful tools for the discovery of novel gene alleles. In addition to radiation and chemical mutagens, unconventional approaches such as tissue or protoplast culture, transposable elements, and space flights have been utilized to generate mutants in lettuce. Since mutation breeding is considered nontransgenic, it is more acceptable to consumers and will be explored more in the future for lettuce improvement. PMID:22287955

  2. Technical presentation

    CERN Multimedia

    FP Department

    2009-01-01

    07 April 2009 Technical presentation by Leuze Electronics: 14.00 – 15.00, Main Building, Room 61-1-017 (Room A) Photoelectric sensors, data identification and transmission systems, image processing systems. We at Leuze Electronics are "the sensor people": we have been specialising in optoelectronic sensors and safety technology for accident prevention for over 40 years. Our dedicated staff are all highly customer oriented. Customers of Leuze Electronics can always rely on one thing – on us! •\tFounded in 1963 •\t740 employees •\t115 MEUR turnover •\t20 subsidiaries •\t3 production facilities in southern Germany Product groups: •\tPhotoelectric sensors •\tIdentification and measurements •\tSafety devices

  3. Allergens from Brazil nut: immunochemical characterization.

    Science.gov (United States)

    Bartolomé, B; Méndez, J D; Armentia, A; Vallverdú, A; Palacios, R

    1997-01-01

    The increase in the consumption of tropical nuts in the Northern Hemisphere during the last years, has evolved in a simultaneous enhancement of allergic IgE mediated (Hypersensitivity type 1) reported cases produced by this kind of food. The Brazil nut is the seed of the Bertholletia excelsa tree (Family Lecythidaceae) and, as in other seeds, proteins represent one of its major components making up 15-17% of its fresh weight and 50% of defatted flour. Of these, storage proteins are the most important ones, and the 12 S globulin legumin-like protein and the 2 S albumin have been described as the most representative. The 2 S protein, due to its high sulfur-rich amino acid content (3% cysteine and 18% methionine), is being studied, cloned and expressed in some important agronomic seeds (soybean, bean, oilseed rape) in order to enrich the nutritional quality of them. The case of a patient with serious clinical allergic symptoms (vomiting, diarrhoea and loss of consciousness) caused by oral contact with the Brazil nut, is presented. The patient gave a positive Skin Prick Test response to Brazil nut, kiwi and hazelnut extracts, and negative to regionally specific aeroallergens and other food extracts. The patient serum showed a high level of specific IgE by RAST to Brazil nut (> 17.5 PRU/ml, Class 4), and significative levels to hazelnut, and mustard. In vitro immunological studies (SDS-Immunoblotting and IEF-Immunoblotting) revealed IgE-binding proteins present in the extract. It was shown that not only the heavy (Mr 9) and light (Mr 4) subunits of the known allergenic 2 S albumin but also the alpha-subunits (Mr approximately 33.5 and 32) and at least one of the beta-subunits (Mr approximately 21) of the 12 S Brazil nut globulin, hitherto never involved in allergic problems, showed a strong IgE-binding capacity. PMID:9208050

  4. Silting mutation in triangulated categories

    CERN Document Server

    Aihara, Takuma

    2010-01-01

    In representation theory of algebras the notion of `mutation' often plays important roles, and two cases are well known, i.e. `cluster tilting mutation' and `exceptional mutation'. In this paper we focus on `tilting mutation', which has a disadvantage that it is often impossible, i.e. some of summands of a tilting object can not be replaced to get a new tilting object. The aim of this paper is to take away this disadvantage by introducing `silting mutation' for silting objects as a generalization of `tilting mutation'. We shall develope a basic theory of silting mutation. In particular, we introduce a partial order on the set of silting objects and establish the relationship with `silting mutation' by generalizing the theory of Riedmann-Schofield and Happel-Unger. We show that iterated silting mutation act transitively on the set of silting objects for local, hereditary or canonical algebras. Finally we give a bijection between silting subcategories and certain t-structures.

  5. Are There Mutator Polymerases?

    Directory of Open Access Journals (Sweden)

    Miguel Garcia-Diaz

    2003-01-01

    Full Text Available DNA polymerases are involved in different cellular events, including genome replication and DNA repair. In the last few years, a large number of novel DNA polymerases have been discovered, and the biochemical analysis of their properties has revealed a long list of intriguing features. Some of these polymerases have a very low fidelity and have been suggested to play mutator roles in different processes, like translesion synthesis or somatic hypermutation. The current view of these processes is reviewed, and the current understanding of DNA polymerases and their role as mutator enzymes is discussed.

  6. A new recent marine Ostracoda species (Hemicytheridae from Brazil

    Directory of Open Access Journals (Sweden)

    Coimbra João Carlos

    2003-01-01

    Full Text Available Ostracods were collected on Sargassum sp. from the littoral of São Sebastião, São Paulo State, southeastern Brazil. A new species, Aurila ornellasae, is illustrated and described based on a population with various instars and adult specimens. This is the first living species of this genus described from Brazil. A brief discussion on the systematics of the genus Aurila Pokorný, 1955 and its allied genera is presented.

  7. Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the "old" and update of the new mutations.

    Science.gov (United States)

    Minucci, Angelo; Moradkhani, Kamran; Hwang, Ming Jing; Zuppi, Cecilia; Giardina, Bruno; Capoluongo, Ettore

    2012-03-15

    In the present paper we have updated the G6PD mutations database, including all the last discovered G6PD genetic variants. We underline that the last database has been published by Vulliamy et al. [1] who analytically reported 140 G6PD mutations: along with Vulliamy's database, there are two main sites, such as http://202.120.189.88/mutdb/ and www.LOVD.nl/MR, where almost all G6PD mutations can be found. Compared to the previous mutation reports, in our paper we have included for each mutation some additional information, such as: the secondary structure and the enzyme 3D position involving by mutation, the creation or abolition of a restriction site (with the enzyme involved) and the conservation score associated with each amino acid position. The mutations reported in the present tab have been divided according to the gene's region involved (coding and non-coding) and mutations affecting the coding region in: single, multiple (at least with two bases involved) and deletion. We underline that for the listed mutations, reported in italic, literature doesn't provide all the biochemical or bio-molecular information or the research data. Finally, for the "old" mutations, we tried to verify features previously reported and, when subsequently modified, we updated the specific information using the latest literature data. PMID:22293322

  8. 249 TP53 mutation has high prevalence and is correlated with larger and poorly differentiated HCC in Brazilian patients

    Directory of Open Access Journals (Sweden)

    Paranaguá-Vezozzo Denise C

    2009-06-01

    Full Text Available Abstract Background Ser-249 TP53 mutation (249Ser is a molecular evidence for aflatoxin-related carcinogenesis in Hepatocellular Carcinoma (HCC and it is frequent in some African and Asian regions, but it is unusual in Western countries. HBV has been claimed to add a synergic effect on genesis of this particular mutation with aflatoxin. The aim of this study was to investigate the frequency of 249Ser mutation in HCC from patients in Brazil. Methods We studied 74 HCC formalin fixed paraffin blocks samples of patients whom underwent surgical resection in Brazil. 249Ser mutation was analyzed by RFLP and DNA sequencing. HBV DNA presence was determined by Real-Time PCR. Results 249Ser mutation was found in 21/74 (28% samples while HBV DNA was detected in 13/74 (16%. 249Ser mutation was detected in 21/74 samples by RFLP assay, of which 14 were confirmed by 249Ser mutant-specific PCR, and 12 by nucleic acid sequencing. All HCC cases with p53-249ser mutation displayed also wild-type p53 sequences. Poorly differentiated HCC was more likely to have 249Ser mutation (OR = 2.415, 95% CI = 1.001 – 5.824, p = 0.05. The mean size of 249Ser HCC tumor was 9.4 cm versus 5.5 cm on wild type HCC (p = 0.012. HBV DNA detection was not related to 249Ser mutation. Conclusion Our results indicate that 249Ser mutation is a HCC important factor of carcinogenesis in Brazil and it is associated to large and poorly differentiated tumors.

  9. Norovirus Recombinant Strains Isolated from Gastroenteritis Outbreaks in Southern Brazil, 2004–2011

    Science.gov (United States)

    Leite, José Paulo Gagliardi; Miagostovich, Marize Pereira

    2016-01-01

    Noroviruses are recognized as one of the leading causes of viral acute gastroenteritis, responsible for almost 50% of acute gastroenteritis outbreaks worldwide. The positive single-strand RNA genome of noroviruses presents a high mutation rate and these viruses are constantly evolving by nucleotide mutation and genome recombination. Norovirus recombinant strains have been detected as causing acute gastroenteritis outbreaks in several countries. However, in Brazil, only one report of a norovirus recombinant strain (GII.P7/GII.20) has been described in the northern region so far. For this study, 38 norovirus strains representative of outbreaks, 11 GII.4 and 27 non-GII.4, were randomly selected and amplified at the ORF1/ORF2 junction. Genetic recombination was identified by constructing phylogenetic trees of the polymerase and capsid genes, and further SimPlot and Bootscan analysis of the ORF1/ORF2 overlap. Sequence analysis revealed that 23 out of 27 (85%) non-GII.4 noroviruses were recombinant strains, characterized as: GII.P7/GII.6 (n = 9); GIIP.g/GII.12 (n = 4); GII.P16/GII.3 (n = 4); GII.Pe/GII.17 (n = 2); GII.P7/GII.14 (n = 1); GII.P13/GII.17 (n = 1); GII.P21/GII.3 (n = 1); and GII.P21/GII.13 (n = 1). On the other hand, among the GII.4 variants analyzed (Den Haag_2006b and New Orleans_2009) no recombination was observed. These data revealed the great diversity of norovirus recombinant strains associated with outbreaks, and describe for the first time these recombinant types circulating in Brazil. Our results obtained in southern Brazil corroborate the previous report for the northern region, demonstrating that norovirus recombinant strains are circulating more frequently than we expected. In addition, these results emphasize the relevance of including ORF1/ORF2-based analysis in surveillance studies as well as the importance of characterizing strains from other Brazilian regions to obtain epidemiological data for norovirus recombinant strains circulating in the

  10. Somatic mutations of APC gene in carcinomas from hereditary non-polyposis colorectal cancer patients

    Institute of Scientific and Technical Information of China (English)

    Jian Huang; Shu Zheng; Shen-Hang Jin; Su-Zhan Zhang

    2004-01-01

    AIM: To investigate the mutational features of adenomatous polyposis coii (APC) gene and its possible arising mechanism in hereditary non-polyposis colorectal cancers (HNPCC).METHODS: PCR-based In Vitro Synthesized Protein Test (IVSP) assay and sequencing analysis were used to confirm somatic mutations of whole APC gene in 19 HNPCC cases. RESULTS: Eleven cases with 13 mutations were determined to harbor APC mutations. The prevalence of APC mutation was 58%(11/19). The mutations consisted of 9 frameshift and 4 nonsense ones, indicating that there were more frameshift mutations (69%). The frameshift mutations allexhibited deletion or insertion of 1-2 bp and most of them (7/9) happened at simple nucleotide repeat sequences, particularly within (A)n tracts (5/9). All point mutations presented C-to-T transitions at CpG sites. CONCLUSION: Mutations of APC gene were detected in more than half of HNPCC, indicating that its mutation was a common molecular event and might play an important role in the tumorigenesis of HNPCC. Locations of frameshift mutations at simple nucleotide repeat sequences and point mutations at CpG sites suggested that many mutations probably derived from endogenous processes including mismatch repair (MMR) deficiency. Defective MMR might affect the nature of APC mutations in HNPCC and likely occur earlier than APC mutational inactivation in some patients.

  11. Glucose-6-phosphate-dehydrogenase deficiency and its correlation with other risk factors in jaundiced newborns in Southern Brazil

    Institute of Scientific and Technical Information of China (English)

    Clarissa Gutirrez Carvalho; Simone Martins Castro; Ana Paula Santin; Carina Zaleski; Felipe Gutirrez Carvalho; Roberto Giugliani

    2011-01-01

    Objective:To evaluate the correlation between glucose-6-phosphate-dehydrogenase (G6PD) deficiency and neonatal jaundice.Methods: Prospective, observational case-control study was conducted on490 newborns admitted to Hospital de Clínicas de Porto Alegre for phototherapy, who all experienced35 or more weeks of gestation, from March to December2007. Enzymatic screening ofG6PD activity was performed, followed byPCR.Results:There was prevalence of4.6% and a boy-girl ratio of3:1 in jaundiced newborns. No jaundiced neonate withABO incompatibility presented G6PD deficiency, and no Mediterranean mutation was found. A higher proportion of deficiency was observed in Afro-descendants. There was no association withUGT1A1 variants. Conclusions:G6PD deficiency is not related to severe hyperbilirubinemia and considering the high miscegenation in this area of Brazil, other gene interactions should be investigated.

  12. Deforestation, Rondonia, Brazil

    Science.gov (United States)

    1992-01-01

    This view of deforestation in Rondonia, far western Brazil, (10.0S, 63.0W) is part of an agricultural resettlement project which ultimately covers an area about 80% the size of France. The patterns of deforestation in this part of the Amazon River Basin are usually aligned adjacent to highways, secondary roads, and streams for ease of access and transportation. Compare this view with the earlier 51G-37-062 for a comparison of deforestation in the region.

  13. Heliostat tailored to Brazil

    OpenAIRE

    Pfahl, Andreas; Bezerra, Pedro; Hölle, Erwin; Liedke, Phillip; Teramoto, Erico Tadao; Hertel, Johannes; Lampkowski, Marcelo; L Oliveira

    2015-01-01

    For Brazil it is important to realize a high local production share because of high import tax rates. The rim drive concept offers an alternative for expensive heliostat drive solutions with slew and linear drives from abroad. By (locally produced) rims the demands on the drives regarding strength and precision are reduced to a very low value and low cost drives can be used. Sandwich facets (which are usually foreseen for rim drive heliostats) are not available from Brazilian manufacturers an...

  14. Radiopharmacy education in Brazil

    Directory of Open Access Journals (Sweden)

    Ralph Santos-Oliveira

    2014-01-01

    Full Text Available The number of schools of pharmacy has been increasing each year in Brazil. From 2002 to 2013 over 300 new schools were opened in Brazil with a final number of 415 schools of pharmacy in operation around the country. Of these schools, only 28 schools offer a course in radiopharmacy (7.77%. However, the demand for such trained professionals has grown exponentially in Brazil, especially following amendment 49 (February 2006 that broke the monopoly on the production, distribution, and marketing of short half-life radiopharmaceuticals, and the recent constitutional amendment project 517/2010, which was approved in the last instance and is waiting for final approval by the President. Thus, in this scenario, there are a total of 417 radiopharmacy services across the country waiting for qualified professionals to fill posts. However, while there are insufficient trained professionals, radiopharmacy services under the aegis of Agencia Nacional de Vigilancia Sanitaria - Brazilian Health Surveillance Agency allow biomedical scientists and biologists to perform specialized functions as developed in radiopharmacy services without the presence of radiopharmacists.

  15. Health promotion in Brazil.

    Science.gov (United States)

    Ivo de Carvalho, Antonio; Westphal, Marcia Faria; Pereira Lima, Vera Lucia Góes

    2007-01-01

    Brazil, a Latin American country of continental proportions and contrasts, demographic inequalities, and social inequities, concomitantly faces the challenge of preventing and controlling infectious diseases, injuries, and non-communicable diseases. The loss of strength of the biomedical paradigm, the change in epidemiological profile, and the sociopolitical and cultural challenges of recent decades have fostered the emergence of new formulations about public health thinking and practice. Among them, are the paradigms of Brazilian Collective Health and Health Promotion. The former provides philosophical support for Brazil's Unified Health System (SUS). The aim of this article is to discuss the development of public health within the country's history, and to analyze and compare the theoretical assumptions of Health Promotion and Collective Health. We conclude that health promotion, based on the principles and values disseminated by the international Charters and concerned with social actors and social determinants of the health-disease process, has significant potential to promote the improvement of living and health conditions of the population. This frame of reference guided the formulation of the National Policy of Health Promotion within the Unified Health System, which was institutionalized by a ministerial decree. The importance and application of evaluating the effectiveness of health promotion processes and methodologies in Brazil have been guided by various frames of reference, which we clarify in this article through describing historical processes. PMID:17596091

  16. Kin Selection - Mutation Balance

    DEFF Research Database (Denmark)

    Dyken, J. David Van; Linksvayer, Timothy Arnold; Wade, Michael J.

    2011-01-01

    selection-mutation balance, which provides an evolutionary null hypothesis for the statics and dynamics of cheating. When social interactions have linear fitness effects and Hamilton´s rule is satisfied, selection is never strong enough to eliminate recurrent cheater mutants from a population, but cheater...

  17. HUMAN MITOCHONDRIAL tRNA MUTATIONS IN MATERNALLY INHERITED DEAFNESS

    Institute of Scientific and Technical Information of China (English)

    ZHENG Jing; GONG Sha-sha; TANG Xiao-wen; ZHU Yi; GUAN Min-xin

    2013-01-01

    Mutations in mitochondrial tRNA genes have been shown to be associated with maternally inherited syn-dromic and non-syndromic deafness. Among those, mutations such as tRNALeu(UUR) 3243A>G associated with syndromic deafness are often present in heteroplasmy, and the non-syndromic deafness-associated tRNA mu-tations including tRNASer(UCN) 7445A>G are often in homoplasmy or in high levels of heteroplasmy. These tRNA mutations are the primary factors underlying the development of hearing loss. However, other tRNA mutations such as tRNAThr 15927G>A and tRNASer(UCN) 7444G>A are insufficient to produce a deafness phe-notype, but always act in synergy with the primary mitochondrial DNA mutations, and can modulate their phenotypic manifestation. These tRNA mutations may alter the structure and function of the corresponding mitochondrial tRNAs and cause failures in tRNAs metabolism. Thereby, the impairment of mitochondrial protein synthesis and subsequent defects in respiration caused by these tRNA mutations, results in mitochon-drial dysfunctions and eventually leads to the development of hearing loss. Here, we summarized the deaf-ness-associated mitochondrial tRNA mutations and discussed the pathophysiology of these mitochondrial tRNA mutations, and we hope these data will provide a foundation for the early diagnosis, management, and treatment of maternally inherited deafness.

  18. Demand for fisheries products in Brazil

    Directory of Open Access Journals (Sweden)

    Daniel Yokoyama Sonoda

    2012-10-01

    Full Text Available Fish consumption per capita in Brazil is relatively modest when compared to other animal proteins. This study analyses the influence of protein prices, other food prices and population income on the fish demand in Brazil. First, the problem of fish supply in Brazil is characterized. It is followed by reviews of the relevant economic theory and methods of Almost Ideal Demand System - AIDS and their elasticity calculations. A descriptive analysis of fish demand in Brazil using the microdata called "Pesquisa de Orçamento Familiar" (Familiar Budget Research - POF 2002-2003 is presented. Finally, demand functions and their elasticities are calculated for two different cases: one considering five groups of animal proteins (Chicken; Milk and Eggs; Fish; Processed Proteins and Red Meat and other with seven groups of food categories (Cereals; Vegetables and Fruits; Milky and Eggs; Oils and Condiments; Fish; Other processed foods; and Meats. The main results are: per capita consumption of fish (4.6 kg per inhabitant per year is low in Brazil because few households consume fish. When only households with fish consumption are considered, the per capita consumption would be higher: 27.2 kg per inhabitant per year. The fish consumption in the North-East Region is concentrated in the low-income class. In the Center-South Region, the fish consumption is lower and concentrated in the intermediate income classes. The main substitutes for fish are the processed proteins and not the traditional types of meat, such as chicken and red meat.

  19. Mutations in galactosemia

    Energy Technology Data Exchange (ETDEWEB)

    Reichardt, J.K.V. [Univ. of Southern California School of Medicine, Los Angeles, CA (United States)

    1995-10-01

    This Letter raises four issues concerning two papers on galactosemia published in the March 1995 of the Journal. First, table 2 in the paper by Elsas et al. incorrectly attributes seven galactose-l-phosphate uridyl transferase (GALT) mutations (S135L, L195P, K285N, N314D, R333W, R333G, and K334R). The table also fails to mention that others have reported the same two findings attributed to {open_quotes}Leslie et al.; Elsas et al. and in press{close_quotes} and {open_quotes}Leslie et al.; Elsas et al.{close_quotes} The first finding on the prevalence of the Q188R galactosemia mutation in the G/G Caucasian population has also been described by Ng et al., and the second finding on the correlation of the N314D GALT mutation with the Duarte variant was reported by Lin et al. Second, Elsas et al. suggest that the E203K and N314D mutations may {open_quotes}produce intra-allelic complementation when in cis{close_quotes}. This speculation is supported by the activity data of individual III-2 but is inconsistent with the activities of three other individuals I-1, II-1, and III-1 of the same pedigree. The GALT activity measured in these three individuals suggests a dominant negative effect of E203K in E203K-N314D chromosomes, since they all have less than normal activity. Thus, the preponderance of the data in this paper is at odds with the authors speculation. It is worth recalling that Lin et al. also identified four N314D GALT mutations on 95 galactosemic chromosomes examined. A similar situation also appears to be the case in proband III-1 (with genotype E203K-N314D/IVSC) in the Elsas et al. paper. 9 refs.

  20. Youth Perspectives on Risk and Resiliency: A Case Study from Juiz De Fora, Brazil

    Science.gov (United States)

    Morrison, Penelope; Nikolajski, Cara; Borrero, Sonya; Zickmund, Susan

    2014-01-01

    The present work seeks to contribute to studies of cross-cultural risk and resiliency by presenting results from qualitative research with adolescents attending programs for at-risk youth in Juiz de Fora, Brazil. In 1990, Brazil introduced the Child and Adolescent Act (ECA), a significant piece of legislation that has had a direct impact on how…

  1. Evolutionary Stability Against Multiple Mutations

    CERN Document Server

    Ghatak, Anirban; Shaiju, A J

    2012-01-01

    It is known (see e.g. Weibull (1995)) that ESS is not robust against multiple mutations. In this article, we introduce robustness against multiple mutations and study some equivalent formulations and consequences.

  2. Mutation breeding newsletter. No. 45

    International Nuclear Information System (INIS)

    This issue of the Mutation Breeding newsletter contains 39 articles dealing with radiation induced mutations and chemical mutagenesis techniques in plant breeding programs with the aims of improving crop productivity and disease resistance as well as exploring genetic variabilities

  3. Mutation breeding newsletter. No. 33

    International Nuclear Information System (INIS)

    This issue of the newsletter reports a number of research news and research abstracts on application of radiation induced mutation techniques to increase mutagenesis and mutation frequency in plant breeding projects

  4. Zika virus infection in a traveller returning to Europe from Brazil, March 2015.

    Science.gov (United States)

    Zammarchi, L; Tappe, D; Fortuna, C; Remoli, M E; Günther, S; Venturi, G; Bartoloni, A; Schmidt-Chanasit, J

    2015-06-11

    We report a case of laboratory-confirmed Zika virus infection imported into Europe from the Americas. The patient developed fever, rash, and oedema of hands and feet after returning to Italy from Brazil in late March 2015. The case highlights that, together with chikungunya virus and dengue virus, three major arboviruses are now co-circulating in Brazil. These arboviruses represent a burden for the healthcare systems in Brazil and other countries where competent mosquito vectors are present.

  5. Somatic CALR Mutations in Myeloproliferative Neoplasms with Nonmutated JAK2

    Science.gov (United States)

    Baxter, E.J.; Nice, F.L.; Gundem, G.; Wedge, D.C.; Avezov, E.; Li, J.; Kollmann, K.; Kent, D.G.; Aziz, A.; Godfrey, A.L.; Hinton, J.; Martincorena, I.; Van Loo, P.; Jones, A.V.; Guglielmelli, P.; Tarpey, P.; Harding, H.P.; Fitzpatrick, J.D.; Goudie, C.T.; Ortmann, C.A.; Loughran, S.J.; Raine, K.; Jones, D.R.; Butler, A.P.; Teague, J.W.; O’Meara, S.; McLaren, S.; Bianchi, M.; Silber, Y.; Dimitropoulou, D.; Bloxham, D.; Mudie, L.; Maddison, M.; Robinson, B.; Keohane, C.; Maclean, C.; Hill, K.; Orchard, K.; Tauro, S.; Du, M.-Q.; Greaves, M.; Bowen, D.; Huntly, B.J.P.; Harrison, C.N.; Cross, N.C.P.; Ron, D.; Vannucchi, A.M.; Papaemmanuil, E.; Campbell, P.J.; Green, A.R.

    2014-01-01

    BACKGROUND Somatic mutations in the Janus kinase 2 gene (JAK2) occur in many myeloproliferative neoplasms, but the molecular pathogenesis of myeloproliferative neoplasms with nonmutated JAK2 is obscure, and the diagnosis of these neoplasms remains a challenge. METHODS We performed exome sequencing of samples obtained from 151 patients with myeloproliferative neoplasms. The mutation status of the gene encoding calreticulin (CALR) was assessed in an additional 1345 hematologic cancers, 1517 other cancers, and 550 controls. We established phylogenetic trees using hematopoietic colonies. We assessed calreticulin subcellular localization using immunofluorescence and flow cytometry. RESULTS Exome sequencing identified 1498 mutations in 151 patients, with medians of 6.5, 6.5, and 13.0 mutations per patient in samples of polycythemia vera, essential thrombocythemia, and myelofibrosis, respectively. Somatic CALR mutations were found in 70 to 84% of samples of myeloproliferative neoplasms with nonmutated JAK2, in 8% of myelodysplasia samples, in occasional samples of other myeloid cancers, and in none of the other cancers. A total of 148 CALR mutations were identified with 19 distinct variants. Mutations were located in exon 9 and generated a +1 base-pair frameshift, which would result in a mutant protein with a novel C-terminal. Mutant calreticulin was observed in the endoplasmic reticulum without increased cell-surface or Golgi accumulation. Patients with myeloproliferative neoplasms carrying CALR mutations presented with higher platelet counts and lower hemoglobin levels than patients with mutated JAK2. Mutation of CALR was detected in hematopoietic stem and progenitor cells. Clonal analyses showed CALR mutations in the earliest phylogenetic node, a finding consistent with its role as an initiating mutation in some patients. CONCLUSIONS Somatic mutations in the endoplasmic reticulum chaperone CALR were found in a majority of patients with myeloproliferative neoplasms with

  6. KRAS Mutations in Canine and Feline Pancreatic Acinar Cell Carcinoma.

    Science.gov (United States)

    Crozier, C; Wood, G A; Foster, R A; Stasi, S; Liu, J H W; Bartlett, J M S; Coomber, B L; Sabine, V S

    2016-07-01

    Companion animals may serve as valuable models for studying human cancers. Although KRAS is the most commonly mutated gene in human ductal pancreatic cancers (57%), with mutations frequently occurring at codons 12, 13 and 61, human pancreatic acinar cell carcinomas (ACCs) lack activating KRAS mutations. In the present study, 32 pancreatic ACC samples obtained from 14 dogs and 18 cats, including seven metastases, were analyzed for six common activating KRAS mutations located in codons 12 (n = 5) and 13 (n = 1) using Sequenom MassARRAY. No KRAS mutations were found, suggesting that, similar to human pancreatic ACC, KRAS mutations do not play a critical role in feline or canine pancreatic ACC. Due to the similarity of the clinical disease in dogs and cats to that of man, this study confirms that companion animals offer potential as a suitable model for investigating this rare subtype of pancreatic carcinoma. PMID:27290644

  7. BRCA1 founder mutations compared to ovarian cancer in Belarus.

    Science.gov (United States)

    Savanevich, Alena; Oszurek, Oleg; Lubiński, Jan; Cybulski, Cezary; Dębniak, Tadeusz; Narod, Steven A; Gronwald, Jacek

    2014-09-01

    In Belarus and other Slavic countries, founder mutations in the BRCA1 gene are responsible for a significant proportion of breast cancer cases, but the data on contribution of these mutations to ovarian cancers are limited. To estimate the proportion of ovarian cancers in Belarus, which are dependent on BRCA1 Slavic founder mutations, we sought the presence of three most frequent mutations (BRCA1: 5382insC, C61G and, 4153delA) in 158 consecutive unselected cases of ovarian cancer. One of the three founder mutations was present in 25 of 158 unselected cases of ovarian cancer (15.8 %). We recommend that all cases of ovarian cancer in Belarus be offered genetic testing for these founder mutations. Furthermore, genetic testing of the Belarusian population will provide the opportunity to prevent a significant proportion of ovarian cancer.

  8. Immune clonal selection optimization method with combining mutation strategies

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    In artificial immune optimization algorithm, the mutation of immune cells has been considered as the key operator that determines the algorithm performance. Traditional immune optimization algorithms have used a single mutation operator, typically a Gaussian. Using a variety of mutation operators that can be combined during evolution to generate different probability density function could hold the potential for producing better solutions with less computational effort. In view of this, a linear combination mutation operator of Gaussian and Cauchy mutation is presented in this paper, and a novel clonal selection optimization method based on clonal selection principle is proposed also. The simulation results show the combining mutation strategy can obtain the same performance as the best of pure strategies or even better in some cases.

  9. Sunlover and its internationalization to Brazil

    OpenAIRE

    Barreto, Ana Luísa Correia

    2013-01-01

    A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics The goal of this work project is to study Sunlover and its internationalization process to Brazil. As a first step, it was necessary to collect information, using primary data provided by Sunlover and secondary data from several sources, including articles, books and websites cited in the references. After the data was collected, the company...

  10. Quidgest internationalization strategic plan to Brazil

    OpenAIRE

    Ramos, Maria do Rosário Pinto de Mesquita Ortigão

    2012-01-01

    A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics An International Strategic Plan to Brazil is the subject of this work project. The author studies the prospect of the Portuguese company Quidgest increasing its international presence. Quidgest is a software consultant that develops Enterprise Resource Planning (ERP) systems. After an extensive analysis focused on Brazil’s economy, business ...

  11. Costs comparison of electric energy in Brazil

    International Nuclear Information System (INIS)

    A cost comparison study of various sources of electric energy generation was performed using uniform analysis criteria. The results indicate higher costs for coal, followed by nuclear and hidro. It was verified that presently, large hidro-power plants can only be located far from the load centers, with increasing costs of hidro-power energy in Brazil. These costs become higher than the nuclear plant if the hidro plant is located at distances exceeding 1000 Km. (Author)

  12. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon

    Energy Technology Data Exchange (ETDEWEB)

    Edwards, S.J.; Gladwin, A.J.; Dixon, M.J. [Univ. of Manchester (United Kingdom)

    1997-03-01

    Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCS locus has been mapped to human chromosome 5q31.3-32 and the mutated gene identified. In the current investigation, 25 previously undescribed mutations, which are spread throughout the gene, are presented. This brings the total reported to date to 35, which represents a detection rate of 60%. Of the mutations that have been reported to date, all but one result in the introduction of a premature-termination codon into the predicted protein, treacle. Moreover, the mutations are largely family specific, although a common 5-bp deletion in exon 24 (seven different families) and a recurrent splicing mutation in intron 3 (two different families) have been identified. This mutational spectrum supports the hypothesis that TCS results from haploin-sufficiency. 49 refs., 4 figs., 3 tabs.

  13. Danish wind power in Brazil. Part 1. The future of wind power in Brazil - market analysis

    International Nuclear Information System (INIS)

    More than 95% of total energy produced in Brazil comes from highly efficient hydroelectric power plants but, faced with a serious shortage of energy after the year 2000, the country is now considering wind energy as one of the basic alternatives for energy supply. It is suggested that biomass, wind energy and biogas may be included in a future supply policy for the north-east region of the land. The structure of, the privatisation, legislation and the tariff system within the Brazilian power sector are described in addition to the present situation regarding wind energy in the country, including current and coming projects in this field, the excellent wind conditions in Northeastern Brazil and investment possibilities. The political activities in this field of the Danish Folkecenter for Renewable Energy are noted and future developments in Brazil are discussed. It is concluded that there are good prospects for Danish windmill technology on the Brazilian market. Wind measurement programs are presently being carried out in various areas of the country, though a number of impediments to the development of wind energy in Brazil remain. (AB)

  14. Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark

    DEFF Research Database (Denmark)

    Bayat, A.; Yasmeen, S.; Lund, A.;

    2016-01-01

    We describe the genotypes of the complete cohort, from 1967 to 2014, of phenylketonuria (PKU) patients in Denmark, in total 376 patients. A total of 752 independent alleles were investigated. Mutations were identified on 744 PKU alleles (98.9%). In total, 82 different mutations were present in th...

  15. Brazil: Intercultural Experiential Learning Aid.

    Science.gov (United States)

    Brigham Young Univ., Provo, UT. Language Research Center.

    This booklet was designed to facilitate interactions and communication with the people of Brazil by providing information about their customs, attitudes and other cultural characteristics which influence their actions and values. A brief description of Brazil is given, covering the following: its size and geography, history, language, economy,…

  16. BRAZIL'S CARBON BUDGET FOR 1990

    Science.gov (United States)

    The recent history of deforestation in the Amazon region of Brazil is well known. ajor reason for alarm over the rate and magnitude of deforestation in Brazil has been concern that the reduction in vegetation releases carbon dioxide (CO2) and other greenhouse gases that may contr...

  17. Caveolin-3 Mutations in Rippling Muscle Disease

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2003-05-01

    Full Text Available Two unrelated patients with novel homozygous missense mutations (L86P and A92T in caveolin-3 gene (CAV3, presenting with a severe form of rippling muscle disease (RMD, are reported from the University of Bonn, and other centers in Germany.

  18. Mutation of Auslander generators

    CERN Document Server

    Lada, Magdalini

    2009-01-01

    Let $\\Lambda$ be an artin algebra with representation dimension equal to three and $M$ an Auslander generator of $\\Lambda$. We show how, under certain assumptions, we can mutate $M$ to get a new Auslander generator whose endomorphism ring is derived equivalent to the endomorphism ring of $M$. We apply our results to selfinjective algebras with radical cube zero of infinite representation type, where we construct an infinite set of Auslander generators.

  19. Studies of human mutation rates

    Energy Technology Data Exchange (ETDEWEB)

    Neel, J.V.

    1990-01-01

    November 1989, marked the beginning of a new three-year cycle of DOE grant support, in connection with which the program underwent a major reorganization. This document presents the progress on the three objectives of the present program which are: to isolate by the technique of two-dimensional polyacrylamide gel electrophoresis (2-D PAGE), proteins of special interest because of the relative mutability of the corresponding gene, establish the identity of the protein, and, for selected proteins, move to a characterization of the corresponding gene; to develop a more efficient approach, based on 2-D PAGE, for the detection of variants in DNA, with special reference to the identification of mutations in the parents of the individual whose DNA is being examined; and, to continue an effective interface with the genetic studies on the children of atomic bomb survivors in Japan, with reference to both the planning and implementation of new studies at the molecular level.

  20. BRAF mutation in hairy cell leukemia

    Directory of Open Access Journals (Sweden)

    Ahmad Ahmadzadeh

    2014-09-01

    Full Text Available BRAF is a serine/threonine kinase with a regulatory role in the mitogen-activated protein kinase (MAPK signaling pathway. A mutation in the RAF gene, especially in BRAF protein, leads to an increased stimulation of this cascade, causing uncontrolled cell division and development of malignancy. Several mutations have been observed in the gene coding for this protein in a variety of human malignancies, including hairy cell leukemia (HCL. BRAF V600E is the most common mutation reported in exon15 of BRAF, which is observed in almost all cases of classic HCL, but it is negative in other B-cell malignancies, including the HCL variant. Therefore it can be used as a marker to differentiate between these B-cell disorders. We also discuss the interaction between miRNAs and signaling pathways, including MAPK, in HCL. When this mutation is present, the use of BRAF protein inhibitors may represent an effective treatment. In this review we have evaluated the role of the mutation of the BRAF gene in the pathogenesis and progression of HCL.

  1. Novel mutations in geleophysic dysplasia type 1.

    Science.gov (United States)

    Porayette, Prashob; Fruitman, Deborah; Lauzon, Julie L; Le Goff, Carine; Cormier-Daire, Valérie; Sanders, Stephen P; Pinto-Rojas, Alfredo; Perez-Atayde, Antonio R

    2014-01-01

    Geleophysic dysplasia (GD) is a rare genetic disorder characterized by acromelic dysplasia. Geleophysic dysplasia type 1 (MIM 231050) is autosomal recessive and is caused by homozygous or compound heterozygous mutation in the ADAMTSL2 (a disintegrin and metalloproteinase with thrombosponding repeats-like 2) gene. Geleophysic dysplasia type 2 (MIM 614185) is autosomal dominant and is caused by heterozygous mutation in the fibrillin 1 (FBN1) gene. Here, we present the clinical and histopathologic findings in a child with GD with newly identified ADAMTSL2 mutations. The 1st mutation was probably a pathogenic one, c.[1934G>A] p.[Arg645His], located in exon 13; the 2nd, in intron 8, was probably changing a splice site. While the light and electron microscopic findings were similar to those previously described, hydrocephalus due to aqueductal stenosis might be a new associated finding in these patients. This child with these 2 novel mutations also had an aggressive clinical course with early-onset progressive cardiac valvular disease. PMID:24251637

  2. Urinary Tract Effects of HPSE2 Mutations

    Science.gov (United States)

    Stuart, Helen M.; Roberts, Neil A.; Hilton, Emma N.; McKenzie, Edward A.; Daly, Sarah B.; Hadfield, Kristen D.; Rahal, Jeffery S.; Gardiner, Natalie J.; Tanley, Simon W.; Lewis, Malcolm A.; Sites, Emily; Angle, Brad; Alves, Cláudia; Lourenço, Teresa; Rodrigues, Márcia; Calado, Angelina; Amado, Marta; Guerreiro, Nancy; Serras, Inês; Beetz, Christian; Varga, Rita-Eva; Silay, Mesrur Selcuk; Darlow, John M.; Dobson, Mark G.; Barton, David E.; Hunziker, Manuela; Puri, Prem; Feather, Sally A.; Goodship, Judith A.; Goodship, Timothy H.J.; Lambert, Heather J.; Cordell, Heather J.; Saggar, Anand; Kinali, Maria; Lorenz, Christian; Moeller, Kristina; Schaefer, Franz; Bayazit, Aysun K.; Weber, Stefanie; Newman, William G.

    2015-01-01

    Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum is limited. Here, seven UFS kindreds with HPSE2 mutations are presented, including one with deleted asparagine 254, suggesting a role for this amino acid, which is conserved in vertebrate orthologs. HPSE2 mutations were absent in 23 non-neurogenic neurogenic bladder probands and, of 439 families with nonsyndromic vesicoureteric reflux, only one carried a putative pathogenic HPSE2 variant. Homozygous Hpse2 mutant mouse bladders contained urine more often than did wild-type organs, phenocopying human UFS. Pelvic ganglia neural cell bodies contained heparanase 1, heparanase 2, and leucine-rich repeats and immunoglobulin-like domains-2 (LRIG2), which is mutated in certain UFS families. In conclusion, heparanase 2 is an autonomic neural protein implicated in bladder emptying, but HPSE2 variants are uncommon in urinary diseases resembling UFS. PMID:25145936

  3. Trogolaphysa formosensis sp. nov. (Collembola: Paronellidae from Atlantic Forest, Northeast Region of Brazil

    Directory of Open Access Journals (Sweden)

    Diego Dias da Silva

    2015-02-01

    Full Text Available Trogolaphysa formosensis sp. nov. (holotype male deposited in DBEZ from Brazil, state of Rio Grande do Norte State, municipality of Bani Formosa, a new springtail from the Atlantic Forest domain, Rio Grande do Norte, Brazil, is described and illustrated. This species is diagnosed by unique coloration pattern, presence of 8+8 eyes, reduced number of setae on metatrochanteral organ, unguiculi truncated and dorsal chaetotaxy. Trogolaphysa formosensis sp. nov. is the first species of the genus from Brazil with all eye lenses. All other Brazilian species present 0+0 or 2+2 eyes. It is also the first species of Trogolaphysa described from the Northeast Region of Brazil.

  4. BRAF Mutation in Colorectal Cancer: An Update.

    Science.gov (United States)

    Barras, David

    2015-01-01

    Colorectal cancer (CRC) is still one of the deadliest cancer-related diseases. About 10% of CRC patients are characterized by a mutation in the B-Raf proto-oncogene serine/threonine kinase (BRAF) gene resulting in a valine-to-glutamate change at the residue 600 (V600E). This mutation is also present in more than 60% of melanoma patients. BRAF inhibitors were developed and found to improve patient survival; however, most patients at the end of the track ultimately develop resistance to these inhibitors. Melanoma patients benefit from the combination of BRAF inhibitors with mitogen/extracellular signal-regulated kinase (MEK) inhibitors, among others. Unfortunately, colorectal patients do not respond much efficiently, which suggests different resistance mechanisms between the two cancer types. This review aims at shedding light on recent discoveries that improve our understanding of the BRAF mutation biology in CRC.

  5. Social Psychotherapy in Brazil.

    Science.gov (United States)

    Fleury, Heloisa J; Marra, Marlene M; Knobel, Anna M

    2015-10-01

    This paper describes the practice of sociodrama, a method created by J. L. Moreno in the 1930s, and the Brazilian contemporary socio-psychodrama. In 1970, after the Fifth International Congress of Psychodrama was held in Brazil, group psychotherapy began to flourish both in private practice and hospital clinical settings. Twenty years later, the Brazilian health care system added group work as a reimbursable mental health procedure to improve social health policies. In this context, socio-psychodrama became a key resource for social health promotion within groups. Some specific conceptual contributions by Brazilians on sociodrama are also noteworthy. PMID:26401805

  6. Genetic diversity of noroviruses in Brazil

    Directory of Open Access Journals (Sweden)

    Julia Monassa Fioretti

    2011-12-01

    Full Text Available Norovirus (NoV infections are a major cause of acute gastroenteritis outbreaks around the world. In Brazil, the surveillance system for acute diarrhoea does not include the diagnosis of NoV, precluding the ability to assess its impact on public health. The present study assessed the circulation of NoV genotypes in different Brazilian states by partial nucleotide sequencing analysis of the genomic region coding for the major capsid viral protein. NoV genogroup II genotype 4 (GII.4 was the prevalent (78% followed by GII.6, GII.7, GII.12, GII.16 and GII.17, demonstrating the great diversity of NoV genotypes circulating in Brazil. Thus, this paper highlights the importance of a virological surveillance system to detect and characterize emerging strains of NoV and their spreading potential.

  7. Plant Mutation Reports, Vol. 2, No. 3, April 2011

    International Nuclear Information System (INIS)

    Enhancing crop yields, improving food quality and value in an environmentally friendly manner, and sustaining crop biodiversity continue to be key goals for improving agricultural production. Mutation induction techniques are undergoing a renaissance in crop improvement because of advancements in modern efficiency enhancing biotechnologies - irreplaceable tools in the tool box of the breeder. In the context of climate change and variability, mutation induction is a proven way to generate diversity in existing crop varieties, to widen the extent of adaptability and enhance productivity of crop biomass. We are encouraged by the contributions from our Member States to this journal. In many countries, we see that a broad variety of plant species and target traits are addressed using mutation induction. In this issue, the technical papers highlight studies on induced mutagenesis using either physical or chemical mutagens in a range of food and industrial crops. Dr Tulmann Neto gives an extensive review of 40 years of induced mutations in plant breeding in Brazil. A number of mutant derived varieties ranging from cereals, legumes, fruits and spices were developed together with commercial breeding companies and have significant economic value in Latin America. We trust that these reports will reignite a drive in experienced users of induced mutants in plant breeding and stir an interest in younger scientists

  8. Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.

    Science.gov (United States)

    Wang, Zheng; Zhang, Weimin; Wang, Yun; Meng, Yan; Su, Liang; Shi, Huiping; Huang, Shangzhi

    2010-08-01

    Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disease caused by deficiency of N-acetylgalactosamine-6-sulfatase (GALNS) and transmitted as an autosomal recessive trait. This is the first systematic mutation screen in Chinese MPS IVA patients. Mutation detections in 24 unrelated Chinese MPS IVA patients were performed by PCR and direct sequencing of exons or the mRNA of GALNS. A total of 42 mutant alleles were identified, belonging to 27 different mutations. Out of the 27 mutations, 16 were novel, including 2 splicing mutations (c.567-1G>T and c.634-1G>A), 2 nonsense mutations (p.W325X and p.Q422X) and 12 missense mutations (p.T88I, p.H142R, p.P163H, p.G168L, p.H236D, p.N289S, p.T312A, p.G316V, p.A324E, p.L366P, p.Q422K and p.F452L). p.G340D was found to be a common mutation in the Chinese MPS IVA patients, accounting for 16.7% of the total number of mutant alleles. The results show that the mutations in Chinese MPS IVA patients are also family specific but have a different mutation spectrum as compared to those of other populations.

  9. Calreticulin Mutations in Myeloproliferative Neoplasms

    Directory of Open Access Journals (Sweden)

    Noa Lavi

    2014-10-01

    Full Text Available With the discovery of the JAK2V617F mutation in patients with Philadelphia chromosome-negative (Ph− myeloproliferative neoplasms (MPNs in 2005, major advances have been made in the diagnosis of MPNs, in understanding of their pathogenesis involving the JAK/STAT pathway, and finally in the development of novel therapies targeting this pathway. Nevertheless, it remains unknown which mutations exist in approximately one-third of patients with non-mutated JAK2 or MPL essential thrombocythemia (ET and primary myelofibrosis (PMF. At the end of 2013, two studies identified recurrent mutations in the gene encoding calreticulin (CALR using whole-exome sequencing. These mutations were revealed in the majority of ET and PMF patients with non-mutated JAK2 or MPL but not in polycythemia vera patients. Somatic 52-bp deletions (type 1 mutations and recurrent 5-bp insertions (type 2 mutations in exon 9 of the CALR gene (the last exon encoding the C-terminal amino acids of the protein calreticulin were detected and found always to generate frameshift mutations. All detected mutant calreticulin proteins shared a novel amino acid sequence at the C-terminal. Mutations in CALR are acquired early in the clonal history of the disease, and they cause activation of JAK/STAT signaling. The CALR mutations are the second most frequent mutations in Ph− MPN patients after the JAK2V617F mutation, and their detection has significantly improved the diagnostic approach for ET and PMF. The characteristics of the CALR mutations as well as their diagnostic, clinical, and pathogenesis implications are discussed in this review.

  10. Rapid identification of HEXA mutations in Tay-Sachs patients.

    Science.gov (United States)

    Giraud, Carole; Dussau, Jeanne; Azouguene, Emilie; Feillet, François; Puech, Jean-Philippe; Caillaud, Catherine

    2010-02-19

    Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder due to mutations in the HEXA gene resulting in a beta-hexosaminidase A (Hex A) deficiency. The purpose of this study was to characterize the molecular abnormalities in patients with infantile or later-onset forms of the disease. The complete sequencing of the 14 exons and flanking regions of the HEXA gene was performed with a unique technical condition in 10 unrelated TSD patients. Eleven mutations were identified, including five splice mutations, one insertion, two deletions and three single-base substitutions. Four mutations were novel: two splice mutations (IVS8+5G>A, IVS2+4delAGTA), one missense mutation in exon 6 (c.621T>G (p.D207E)) and one small deletion (c.1211-1212delTG) in exon 11 resulting in a premature stop codon at residue 429. The c.621T>G missense mutation was found in a patient presenting an infantile form. Its putative role in the pathogenesis of TSD is suspected as residue 207 is highly conserved in human, mouse and rat. Moreover, structural modelling predicted changes likely to affect substrate binding and catalytic activity of the enzyme. The time-saving procedure reported here could be useful for the characterization of Tay-Sachs-causing mutations, in particular in non-Ashkenazi patients mainly exhibiting rare mutations. PMID:20100466

  11. Identification and functional analysis of novel THAP1 mutations.

    Science.gov (United States)

    Lohmann, Katja; Uflacker, Nils; Erogullari, Alev; Lohnau, Thora; Winkler, Susen; Dendorfer, Andreas; Schneider, Susanne A; Osmanovic, Alma; Svetel, Marina; Ferbert, Andreas; Zittel, Simone; Kühn, Andrea A; Schmidt, Alexander; Altenmüller, Eckart; Münchau, Alexander; Kamm, Christoph; Wittstock, Matthias; Kupsch, Andreas; Moro, Elena; Volkmann, Jens; Kostic, Vladimir; Kaiser, Frank J; Klein, Christine; Brüggemann, Norbert

    2012-02-01

    Mutations in THAP1 have been associated with dystonia 6 (DYT6). THAP1 encodes a transcription factor that represses the expression of DYT1. To further evaluate the mutational spectrum of THAP1 and its associated phenotype, we sequenced THAP1 in 567 patients with focal (n = 461), segmental (n = 68), or generalized dystonia (n = 38). We identified 10 novel variants, including six missense substitutions within the DNA-binding Thanatos-associated protein domain (Arg13His, Lys16Glu, His23Pro, Lys24Glu, Pro26Leu, Ile80Val), a 1bp-deletion downstream of the nuclear localization signal (Asp191Thrfs*9), and three alterations in the untranslated regions. The effect of the missense variants was assessed using prediction tools and luciferase reporter gene assays. This indicated the Ile80Val substitution as a benign variant. The subcellular localization of Asp191Thrfs*9 suggests a disturbed nuclear import for this mutation. Thus, we consider six of the 10 novel variants as pathogenic mutations accounting for a mutation frequency of 1.1%. Mutation carriers presented mainly with early onset dystonia (<12 years in five of six patients). Symptoms started in an arm or neck and spread to become generalized in three patients or segmental in two patients. Speech was affected in four mutation carriers. In conclusion, THAP1 mutations are rare in unselected dystonia patients and functional analysis is necessary to distinguish between benign variants and pathogenic mutations. PMID:21847143

  12. HFE gene mutations and iron status of Brazilian blood donors

    Directory of Open Access Journals (Sweden)

    P.C.J.L. Santos

    2010-01-01

    Full Text Available Mutations of the HFE and TFR2 genes have been associated with iron overload. HFE and TFR2 mutations were assessed in blood donors, and the relationship with iron status was evaluated. Subjects (N = 542 were recruited at the Hemocentro da Santa Casa de São Paulo, São Paulo, Brazil. Iron status was not influenced by HFE mutations in women and was independent of blood donation frequency. In contrast, men carrying the HFE 282CY genotype had lower total iron-binding capacity (TIBC than HFE 282CC genotype carriers. Men who donated blood for the first time and were carriers of the HFE 282CY genotype had higher transferrin saturation values and lower TIBC concentrations than those with the homozygous wild genotype for the HFE C282Y mutation. Moreover, in this group of blood donors, carriers of HFE 63DD plus 63HD genotypes had higher serum ferritin values than those with the homozygous wild genotype for HFE H63D mutation. Multiple linear regression analysis showed that HFE 282CY leads to a 17.21% increase (P = 0.018 and a 83.65% decrease (P = 0.007 in transferrin saturation and TIBC, respectively. In addition, serum ferritin is influenced by age (3.91%, P = 0.001 and the HFE 63HD plus DD genotype (55.84%, P = 0.021. In conclusion, the HFE 282Y and 65C alleles were rare, while the HFE 63D allele was frequent in Brazilian blood donors. The HFE C282Y and H63D mutations were associated with alterations in iron status in blood donors in a gender-dependent manner.

  13. Mutation trend of hemagglutinin of influenza A virus: a review from a computational mutation viewpoint

    Institute of Scientific and Technical Information of China (English)

    Guang WU; Shao-min YAN

    2006-01-01

    Since 1999 we have developed two computational mutation approaches to analyze the protein primary structure whose methodology and implications were reviewed in 2002.Our first approach is the calculation of predictable and unpredictable portions of amino-acid pairs in a protein, and the second iS the calculation of amino-acid distribution rank in a protein. Both approaches provide quantitative measures to present a protein, which we have used to study a number of proteins with numerous mutations such as p53 proteins. More recently, we focussed our efforts on analyzing the proteins mutating frequently over time such as hemagglutinins of influenza A viruses. In this review we summarise our findings and their implications for hemagglutinin mutations in combination with some newly available data. Our approaches throw light on the true nature of genetic heterogeneity of influenza virus hemagglutinins; that is, the protein variability is highly relevant to its amino-acid construction. Using these approaches, we can monitor new mutations from influenza virus hemaggtutinins and may predict their mutations in the future.

  14. Germ-line origins of mutation in families with hemophilia B: The sex ratio varies with the type of mutation

    Energy Technology Data Exchange (ETDEWEB)

    Ketterling, R.P.; Vielhaber, E.; Bottema, C.D.K.; Schaid, D.J.; Sommer, S.S. (Mayo Clinic/Foundation, Rochester, MN (United States)); Cohen, M.P. (Vanderbilt Univ., Nashville, TN (United States)); Sexauer, C.L. (Children' s Hospital, Oklahoma City, OK (United States))

    1993-01-01

    Previous epidemiological and biochemical studies have generated conflicting estimates of the sex ratio of mutation. Direct genomic sequencing in combination with haplotype analysis extends previous analyses by allowing the precise mutation to be determined in a given family. From analysis of the factor IX gene of 260 consecutive families with hemophilia B, the authors report the germ-line origin of mutation in 25 families. When combined with 14 origins of mutation reported by others and with 4 origins previously reported by them, a total of 25 occur in the female germ line, and 18 occur in the male germ line. The excess of germ-line origins in females does not imply an overall excess mutation rate per base pair in the female germ line. Bayesian analysis of the data indicates that the sex ratio varies with the type of mutation. The aggregate of single-base substitutions shows a male predominance of germ-line mutations (P < .002). The maximum-likelihood estimate of the male predominance is 3.5-fold. Of the single-base substitutions, deletions display a sex ratio of unity. Analysis of the parental age at transmission of a new mutation suggests that germ-line mutations are associated with a small increase in parental age in females but little, if any, increase in males. Although direct genomic sequencing offers a general method for defining the origin of mutation in specific families, accurate estimates of the sex ratios of different mutational classes require large sample sizes and careful correction for multiple biases of ascertainment. The biases in the present data result in an underestimate of the enhancement of mutation in males. 62 refs., 1 fig., 5 tabs.

  15. Imagined futures, present lives

    DEFF Research Database (Denmark)

    Dalsgaard, Anne Line; Wildermuth, Norbert

    2006-01-01

    The article is focused thematically on the uses and meanings of media for (some) young people in Recife, a million-inhabitant city in the northeast of Brazil. The article brings together the perspective of Anne Line Dalsgaard, a long-term anthropological field researcher who is familiar with the ......The article is focused thematically on the uses and meanings of media for (some) young people in Recife, a million-inhabitant city in the northeast of Brazil. The article brings together the perspective of Anne Line Dalsgaard, a long-term anthropological field researcher who is familiar...

  16. Uterine cancer presenting as obstructive jaundice

    OpenAIRE

    Manuel, Valdano

    2016-01-01

    Valdano Manuel, Eserval Rocha, Giovana Fortini, Zeida Pascoal, Renata Netto, Lenira Rengel, Claudio Birolini, Edivaldo Massazo Utiyama Department of General and Trauma Surgery, Hospital das Clínicas, School of Medicine, University of São Paulo, São Paulo, Brazil Abstract: Obstructive jaundice as an initial manifestation of uterine cancer is extremely rare. We present a case of a 72-year-old female who presented with obstructive jaundice, supposedly for pancr...

  17. Uterine cancer presenting as obstructive jaundice

    OpenAIRE

    Manuel V; Rocha E; Fortini G; Pascoal Z; Netto R; Rengel L; Birolini C; Utiyama EM

    2016-01-01

    Valdano Manuel, Eserval Rocha, Giovana Fortini, Zeida Pascoal, Renata Netto, Lenira Rengel, Claudio Birolini, Edivaldo Massazo Utiyama Department of General and Trauma Surgery, Hospital das Clínicas, School of Medicine, University of São Paulo, São Paulo, Brazil Abstract: Obstructive jaundice as an initial manifestation of uterine cancer is extremely rare. We present a case of a 72-year-old female who presented with obstructive jaundice, supposedly for pancreatic cancer...

  18. Ministerio da Educacao e Cultura. Trinta Anos de Organizacao e Situacao Atual (Ministry of Education and Culture [Brazil]. Thirty Years Ago and Now). Volumes I and III.

    Science.gov (United States)

    Porto, Norma Carneiro Monteiro

    The economic rather than the educational aspect of Brazil's Ministry of Education and Culture is presented in this historical summary. The study was done as part of Brazil's national program of educational reform. Brazil is currently re-evaluating its school system with the view of adopting a nationally-administered system similar to that in…

  19. THERMALISM IN BRAZIL: HISTORY, SCIENCE AND MEMORY BETWEEN 1839 AND 1950

    OpenAIRE

    Marrichi, Jussara Marques Oliveira

    2015-01-01

    This study aimed to historically narratehowcertain eventshave contributed tothe onsetand development ofthermalpracticesin Brazil.Someof the firstandmost important stepsof the medicalhydrology will be presented: from theconstitution of hidrology(latercrenology) of the late 19th century tothe 1950sin Brazil.Throughout the textit will be possibleto understand somespecific forms ofhumanexperiences withthermal waterthatwere only possiblethanks toscientific knowledgesettled ineach periodof that his...

  20. On the development of fast breeder reactors and the use of thorium in Brazil

    International Nuclear Information System (INIS)

    This work presents a discussion on the possibility of construction of fast breeder reactors in Brazil. It is specially concerned with the use of thorium which is abundant in our country. The main advantages of this projects are: develop fuel and reactor technology in Brazil, increase thorium research, demonstrate the safety of LMFBR and promote its public acceptance. (A.C.A.S.)

  1. Tmesiphantes hypogeus sp. nov. (Araneae, Theraphosidae), the first troglobitic tarantula from Brazil.

    Science.gov (United States)

    Bertani, Rogério; Bichuette, Maria Elina; Pedroso, Denis R

    2013-03-01

    A new species of Tmesiphantes Simon, 1892, is described from sandstone/quartizitic caves of Chapada Diamantina, Bahia State, Brazil. This is the fifth species of the genus and the first record of a troglobitic mygalomorph in Brazil. A key is presented for all Tmesiphantes species. PMID:23460434

  2. Tmesiphantes hypogeus sp. nov. (Araneae, Theraphosidae, the first troglobitic tarantula from Brazil

    Directory of Open Access Journals (Sweden)

    Rogério Bertani

    2013-03-01

    Full Text Available A new species of Tmesiphantes Simon, 1892, is described from sandstone/quartizitic caves of Chapada Diamantina, Bahia State, Brazil. This is the fifth species of the genus and the first record of a troglobitic mygalomorph in Brazil. A key is presented for all Tmesiphantes species.

  3. Imatinib resistance mutation analysis: experience from a tertiary oncology center

    Directory of Open Access Journals (Sweden)

    Mallekavu Suresh Babu

    2015-01-01

    Full Text Available Purpose: BCR-ABL kinase domain (KD mutations account for 50-90% of the imatinib resistance observed in patients of CML-chronic phase. In CML-CP patients receiving imatinib first-line, mutation analysis is recommended in case of failure or suboptimal response using European LeukemiaNet (ELN criteria. The present study was carried out at a tertiary oncology centre in south India to assess which mutations accounted for resistance to imatinib among patients of chronic phase CML being treated with imatinib.Methods: This was a retrospective observational study. We analyzed patients who were tested for imatinib resistance mutation in view of suboptimal responses while on imatinib or imatinib failure. Direct sequencing of the BCR-ABL transcript by the Sanger method was used for IRMA testing.Results: Out of 120 tested for IRMA, 36 (30% had detectable mutations. We observed a higher frequency of mutations at amino acids T315, F359 and M351T.Conclusions: Among the patients who were tested for imatinib resistance mutation in view of suboptimal responses while on imatinib or imatinib failure, 30% had IRMA +ve mutations. The high incidence of imatinib resistance in present study may be attributed to the fact that our patients were given higher dose of imatinib (600 mg, if they failed to achieve CCyR at 12 months or CHR at 3 months as they could not afford second generation TKIs.

  4. Genetic epidemiology of human schistosomiasis in Brazil.

    Science.gov (United States)

    Bethony, Jeffrey M; Quinnell, Rupert J

    2008-01-01

    Human schistosomiasis presents the classic, complex disease phenotype, with marked variation in the intensity of infection, the immune response to infection, and the development of schistosome-related pathology. Determining the role of host genetics in schistosomiasis is complicated by the numerous parasite and environmental factors involved in transmission. However, as a result of the increased availability of sequence data, novel statistical methods, and new methods of study design, the last decade has seen significant advances in identifying the role of host genetics in schistosome infection around the world. Many of these advances have taken place in Brazil. Epidemiological studies in Brazil have shown that the intensity of infection (worm burden) is a heritable phenotype (41%). Human genome scans have identified a locus responsible for controlling Schistosoma mansoni infection intensity on chromosome 5q31-q33. There is also evidence for genetic control of pathology due to S. mansoni, with linkage reported to a region containing the gene for the interferon-gamma receptor 1 subunit. Numerous association studies have also provided evidence for major histocompatibility complex control of pathology in schistosomiasis. Recent candidate gene studies suggest a role of other immune response genes in controlling helminth infection and pathology. We chronicle the many advances made in understanding the role of host genetics in S. mansoni infection that have taken place in Brazil by phenotype studied: infection intensity, immune response, and disease development. Results from Brazilian studies are compared with studies of S. mansoni and other schistosome species elsewhere in the world. PMID:18207118

  5. SMART GRID: Evaluation and Trend in Brazil

    Directory of Open Access Journals (Sweden)

    Ricardo Moreira da Silva

    2014-09-01

    Full Text Available The Smart Grid is considered the most promising conglomerate of technology to be applied for the improvement and optimization of all power production in electrical engineer. Smart Grid's concept is being more and more recognized for its importance for representing a way to meliorate the energetic efficiency of the electric system, reducing consumption, allowing intensive use of energy generation renewable sources. Therefore, the goal of this article is to explore and present Smart Grid's concepts and its global evolution, so as perform an assessment on Smart Grid's tendencies in Brazil. In order to do this, we shown the concepts of Smart Grid, its benefits and impacts in the electric system's value chain, the barriers to its diffusion in Brazil and the paths of investments' incentives for deployment of the new technology. Accordingly, we reach the conclusion that the researches point to a long and challenging trajectory for the development and implantation of Smart Grid's technology in Brazil, which is still in a embryonic phase of pilot projects for the knowledge and technology development implantation.

  6. The Devonian trilobites of Brazil: A summary

    Science.gov (United States)

    Carvalho, Maria da Gloria Pires de; Ponciano, Luiza Corral Martins de Oliveira

    2015-12-01

    Devonian trilobites are found in three major Paleozoic intracratonic basins of Brazil (Amazonas, Parnaíba, and Paraná). The trilobites represent the families Homalonotidae, Dalmanitidae, and Calmoniidae. The distribution of these taxa in the Brazilian territory is summarized here because of their remarkable scientific and historical importance, and a revised taxonomy and lithostratigraphy of the Devonian (Pragian - Famennian) trilobites from Brazil is presented, based on new research and recent literature. Homalonotids and dalmanitids are relatively cosmopolitan, whereas calmoniids are more endemic and seem to have been restricted to marine cold-waters of the southern hemisphere (Malvinokaffric Realm). Although the trilobites within the Brazilian intracratonic basins are approximately contemporaneous, they show various patterns of endemism and biogeographical affinities with other Malvinokaffric areas such as Bolivia, South Africa, and the Falkland (Malvinas) Islands. At family level, therefore, trilobite diversity from Brazil is comparatively low, which may indicate biogeographical filtering related to the distance and/or remoteness of the Brazilian basins from more open oceanic waters.

  7. Review of plant biogeographic studies in Brazil

    Institute of Scientific and Technical Information of China (English)

    Pedro FIASCHI; José R. PIRANI

    2009-01-01

    Molecular phylogenetic studies have become a major area of interest in plant systematics, and their impacts on historical biogeographic hypotheses are not to be disregarded. In Brazil, most historical biogeographic studies have relied on animal phylogenies, whereas plant biogeographic studies have largely lacked a phylogenetic component, having a limited utility for historical biogeography. That country, however, is of great importance for most biogeographic studies of lowland tropical South America, and it includes areas from a number of biogeographic regions of the continent. Important biogeographic reports have been published as part of phylogenetic studies, taxonomic monographs, and regional accounts for small areas or phytogeographic domains, hut the available information is subsequently scattered and sometimes hard to find. In this paper we review some relevant angiosperm biogeographic studies in Brazil. Initially we briefly discuss the importance of other continents as source areas for the South American flora. Then we present a subdivision of Brazil into phytogeographic domains, and we cite studies that have explored the detection of biogeographic units (areas of endemism) and how they are historically related among those domains. Examples of plant taxa that could be used to test some biogeographic hypotheses are provided throughout, as well as taxa that exemplify several patterns of endemism and disjunction in the Brazilian angiosperm flora.

  8. Genome sequencing of normal cells reveals developmental lineages and mutational processes

    NARCIS (Netherlands)

    Behjati, Sam; Huch, Meritxell; van Boxtel, Ruben; Karthaus, Wouter; Wedge, David C; Tamuri, Asif U; Martincorena, Iñigo; Petljak, Mia; Alexandrov, Ludmil B; Gundem, Gunes; Tarpey, Patrick S; Roerink, Sophie; Blokker, Joyce; Maddison, Mark; Mudie, Laura; Robinson, Ben; Nik-Zainal, Serena; Campbell, Peter; Goldman, Nick; van de Wetering, Marc; Cuppen, Edwin; Clevers, Hans; Stratton, Michael R

    2014-01-01

    The somatic mutations present in the genome of a cell accumulate over the lifetime of a multicellular organism. These mutations can provide insights into the developmental lineage tree, the number of divisions that each cell has undergone and the mutational processes that have been operative. Here w

  9. Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing.

    Science.gov (United States)

    Armengol, Gemma; Sarhadi, Virinder K; Ghanbari, Reza; Doghaei-Moghaddam, Masoud; Ansari, Reza; Sotoudeh, Masoud; Puolakkainen, Pauli; Kokkola, Arto; Malekzadeh, Reza; Knuutila, Sakari

    2016-07-01

    Detection of driver gene mutations in stool DNA represents a promising noninvasive approach for screening colorectal cancer (CRC). Amplicon-based next-generation sequencing (NGS) is a good option to study mutations in many cancer genes simultaneously and from a low amount of DNA. Our aim was to assess the feasibility of identifying mutations in 22 cancer driver genes with Ion Torrent technology in stool DNA from a series of 65 CRC patients. The assay was successful in 80% of stool DNA samples. NGS results showed 83 mutations in cancer driver genes, 29 hotspot and 54 novel mutations. One to five genes were mutated in 75% of cases. TP53, KRAS, FBXW7, and SMAD4 were the top mutated genes, consistent with previous studies. Of samples with mutations, 54% presented concomitant mutations in different genes. Phosphatidylinositol 3-kinase/mitogen-activated protein kinase pathway genes were mutated in 70% of samples, with 58% having alterations in KRAS, NRAS, or BRAF. Because mutations in these genes can compromise the efficacy of epidermal growth factor receptor blockade in CRC patients, identifying mutations that confer resistance to some targeted treatments may be useful to guide therapeutic decisions. In conclusion, the data presented herein show that NGS procedures on stool DNA represent a promising tool to detect genetic mutations that could be used in the future for diagnosis, monitoring, or treating CRC. PMID:27155048

  10. Perspectives on bioenergy and biotechnology in Brazil.

    Science.gov (United States)

    Pessoa-Jr, Adalberto; Roberto, Inês Conceição; Menossi, Marcelo; dos Santos, Raphael Revert; Filho, Sylvio Ortega; Penna, Thereza Christina Vessoni

    2005-01-01

    Brazil is one of the world's largest producers of alcohol from biomass at low cost and is responsible for more than 1 million direct jobs. In 1973, the Brazilian Program of Alcohol (Proalcool) stimulated the creation of a bioethanol industry that has led to large economic, social, and scientific improvements. In the year 1984, 94.5% of Brazil's cars used bioethanol as fuel. In 2003/2004, 350.3 million of sugarcane produced 24.2 million t of sugar and 14.4 billion L of ethanol for an average 4.3 million cars using ethanol. Since its inception, cumulative investment in Proalcool totals US$11 billion, and Brazil has saved US$27 billion in oil imports. The ethanol production industry from sugarcane gene-rates 152 times more jobs than would have been the case if the same amount of fuel was produced from petroleum, and the use of ethanol as a fuel is advantageous for environmental reasons. In 2003, one of the biggest Brazilian ethanol industries started consuming 50% of the residual sugarcane bagasse to produce electrical energy (60 MW), a new alternative use of bioenergy for the Brazilian market. Other technologies for commercial uses of bagasse are in development, such as in the production of natural fibers, sweeteners (glucose and xylitol), single-cell proteins, lactic acid, microbial enzymes, and many other products based on fermentations (submerged and semisolid). Furthermore, studies aimed at the increase in the biosynthesis of sucrose and, consequently, ethanol productivity are being conducted to understand the genetics of sugarcane. Although, at present, there remain technical obstacles to the economic use of some ethanol industry residues, several research projects have been carried out and useful data generated. Efficient utilization of ethanol industry residues has created new opportunities for new value-added products, especially in Brazil, where they are produced in high quantities.

  11. Plantas aquáticas e nível de infestação das espécies presentes no reservatório de Bariri, no Rio Tietê Aquatic plants and infestation level at the Bariri reservoir in Tietê River, Brazil

    Directory of Open Access Journals (Sweden)

    F.T. Carvalho

    2005-06-01

    Full Text Available O monitoramento da vegetação aquática permite avaliar a evolução das comunidades e determinar o potencial de danos associados a essas populações. O objetivo do trabalho foi identificar as plantas aquáticas e os níveis de infestação de cada espécie, presentes no reservatório de Bariri. Foram avaliados todos os focos de vegetação aquática presente na represa (194 pontos, e os pontos foram demarcados com um aparelho de GPS. As plantas foram identificadas e realizou-se uma estimativa visual do valor geográfico do ponto (tamanho da área e a distribuição proporcional das plantas no foco de infestação. Foram encontradas 15 espécies de plantas aquáticas vegetando na represa de Bariri. Considerando que as principais espécies ocorreram com níveis de infestação acima de 10%, as mais importantes foram: Brachiaria mutica (27,0% da área e 97,4% de freqüência, B. subquadripara (22,7% da área e 96,9% de freqüência, Eichhornia crassipes (13,8% da área e 85,6% de freqüência e Typha angustifolia (16,7% da área e 72,7% de freqüência. Outra espécie que pode ser destacada e que apresentou um bom potencial de infestação foi Enidra sessilis, que ocorreu em 8,9% de ocupação na área vegetada e com 76,3% de freqüência.Aquatic vegetation monitoring allows to evaluate community evolution and to determine the potential of damages associated to these populations. The objective of this work was to identify the aquatic plants and infestation levels of each species in the Bariri reservoir in the state of São Paulo, Brazil. All the aquatic vegetation foci in the dam (194 points were evaluated and marked with GPS equipment. The plants were identified and a visual estimate of the geographic value of the point (size of the area and a proportional distribution of the plants in the focus were carried out. Fifteen macrophyte species were found vegetating in the Bariri dam. Due to the great diversity of the species found, those presenting

  12. Intestinal microsporidiosis in HIV-positive patients with chronic unexplained diarrhea in Rio de Janeiro, Brazil: diagnosis, clinical presentation and follow-up Microsporidiose intestinal em pacientes HIV-positivos com diarréia crônica no Rio de Janeiro, Brasil: diagnóstico, clínica e acompanhamento

    Directory of Open Access Journals (Sweden)

    Patrícia Brasil

    1996-04-01

    Full Text Available After the diagnosis of two cases of microsporidial intestinal infection in 1992, in Rio de Janeiro, we have started looking for this parasite in HIV-infected patients with chronic unexplained diarrhea. We have studied 13 patients from Hospital Evandro Chagas, IOC-FIOCRUZ. Fecal specimens from these patients were examined for the presence of Cryptosporidia and Microsporidia, in addition to routine examination. Spores of Microsporidia were found in the stools of 6 (46.1% of the 13 patients studied, with 2 histological jejunal confirmations. The Microsporidia-infected patients presented chronic diarrhea with about 6 loose to watery bowel movements a day. Five infected patients were treated with Metronidazole (1.5 g/day. They initially showed a good clinical response, but they never stopped eliminating spores. After about the 4th week of therapy, their diarrhea returned. Two patients utilized Albendazole (400 mg/day-4 weeks with a similar initial improvement and recurrence of the diarrhea. Intestinal Microsporidiosis seems to be a marker of advanced stages of AIDS, since 5 of our 6 infected patients were dead after a 6 month period of follow-up. The present study indicates that intestinal microsporidiosis may be a burgeoning problem in HIV-infected patients with chronic diarrhea in Brazil, which deserves further investigation.Após o diagnóstico, em 1992, de 2 pacientes eliminando esporos de microsporídeos, o presente estudo foi realizado com o objetivo de determinar a ocorrência destes organismos em pacientes HIV-positivos com diarréia crônica sem etiologia definida. O grupo estudado era constituído de 13 pacientes acompanhados no Hospital Evandro Chagas, IOC, FIOCRUZ. Amostras fecais de cada paciente foram examinadas pelos métodos de rotina, além de colorações especiais para a pesquisa de Cryptosporidium e de microsporídeos. Esporos de microsporídeos foram observados nas fezes de 6 (46,1% dos 13 pacientes. Em 2 a confirmação foi

  13. Muller's ratchet with compensatory mutations

    CERN Document Server

    Pfaffelhuber, Peter; Wakolbinger, Anton

    2011-01-01

    We consider an infinite dimensional system of stochastic differential equations which describes the evolution of type frequencies in a large population. Random reproduction is modeled by a Wright-Fisher noise whose inverse diffusion coefficient $N$ corresponds to the total population size. The type of an individual is the number $k$ of deleterious mutations it carries. We assume that fitness of individuals carrying $k$ mutations is decreased by $\\alpha k$ for some $\\alpha >0$. Along the individual lines of descent, (new) mutations accumulate at rate $\\lambda$ per generation, and each of these mutations has a small probability $\\gamma$ per generation to disappear. While the case $\\gamma =0 $ is known as (the Fleming-Viot version of) {\\em Muller's ratchet}, the case $\\gamma > 0$ is referred to as that of {\\em compensatory mutations} in the biological literature. In the former case ($\\gamma=0$), an ever increasing number of mutations is accumulated over time, while in the latter ($\\gamma > 0$) this is prevented ...

  14. Mutation Breeding Newsletter. No. 39

    International Nuclear Information System (INIS)

    This newsletter contains brief articles on the use of radiation to induce mutations in plants; radiation-induced mutants in Chrysanthemum; disrupting the association between oil and protein content in soybean seeds; mutation studies on bougainvillea; a new pepper cultivar; and the use of mutation induction to improve the quality of yam beans. A short review of the seminar on the use of mutation and related biotechnology for crop improvement in the Middle East and Mediterranean regions, and a description of a Co-ordinated Research Programme on the application of DNA-based marker mutations for the improvement of cereals and other sexually reproduced crop species are also included. Two tables are given: these are based on the ''FAO/IAEA Mutant Varieties Database'' and show the number of mutated varieties and the number of officially released mutant varieties in particular crops/species. Refs and tabs

  15. Filaggrin mutations and the skin.

    Science.gov (United States)

    De, Dipankar; Handa, Sanjeev

    2012-01-01

    Filaggrin is very important in the terminal differentiation of the skin and the formation of cornified envelope in the stratum corneum. Several mutations in the filaggrin gene have been identified in the last decade, mostly from the European countries. Loss of function mutations in the filaggrin gene results in reduced production of filaggrin, depending on the type and site of mutation. Such mutations in the filaggrin gene have been shown to be the most significant genetic risk factor for development of atopic dermatitis and undoubtedly has a role in the pathogenesis of ichthyosis vulgaris. Though there is theoretical possibility of association with hand eczema and allergic contact dermatitis; in clinical studies, the strength of these associations was not significantly strong. In this review, we have discussed the structure and function of filaggrin, basic genetics, type of mutations in filaggrin gene, and association of such mutations with different dermatoses.

  16. Filaggrin mutations and the skin

    Directory of Open Access Journals (Sweden)

    Dipankar De

    2012-01-01

    Full Text Available Filaggrin is very important in the terminal differentiation of the skin and the formation of cornified envelope in the stratum corneum. Several mutations in the filaggrin gene have been identified in the last decade, mostly from the European countries. Loss of function mutations in the filaggrin gene results in reduced production of filaggrin, depending on the type and site of mutation. Such mutations in the filaggrin gene have been shown to be the most significant genetic risk factor for development of atopic dermatitis and undoubtedly has a role in the pathogenesis of ichthyosis vulgaris. Though there is theoretical possibility of association with hand eczema and allergic contact dermatitis; in clinical studies, the strength of these associations was not significantly strong. In this review, we have discussed the structure and function of filaggrin, basic genetics, type of mutations in filaggrin gene, and association of such mutations with different dermatoses.

  17. Calreticulin Mutations in Myeloproliferative Neoplasms

    OpenAIRE

    Noa Lavi

    2014-01-01

    With the discovery of the JAK2V617F mutation in patients with Philadelphia chromosome-negative (Ph−) myeloproliferative neoplasms (MPNs) in 2005, major advances have been made in the diagnosis of MPNs, in understanding of their pathogenesis involving the JAK/STAT pathway, and finally in the development of novel therapies targeting this pathway. Nevertheless, it remains unknown which mutations exist in approximately one-third of patients with non-mutated JAK2 or MPL essential thrombocythemia (...

  18. Absence of Apo B R3500Q Mutation among Kelantanese Malays with Hyperlipidaemia

    OpenAIRE

    Kyi, Win Mar; Isa, Mohd Nizam; Rashid, Faridah Abdul; Osman, Jama’ayah Meor; Mansur, Mazidah Ahmad

    2000-01-01

    Familial defective apolipoprotein B-100 (FDB) is an autosomal dominant genetic disorder associated with hypercholesterolaemia and premature coronary heart disease. FDB is caused by mutations in and around the codon 3500 of the apolipoprotein B (apo B) gene. Apo B R3500Q mutation is the first apo B mutation known to be associated with FDB and it is the most frequently reported apo B mutation in several different populations. The objective of the present study was to determine the association o...

  19. Phenotype-Optimized Sequence Ensembles Substantially Improve Prediction of Disease-Causing Mutation in Cystic Fibrosis

    OpenAIRE

    Masica, David L.; Sosnay, Patrick R.; Cutting, Garry R; Karchin, Rachel

    2012-01-01

    Cystic fibrosis transmembrane conductance regulator (CFTR) mutation is associated with a phenotypic spectrum that includes cystic fibrosis (CF). The disease liability of some common CFTR mutations is known, but rare mutations are seen in too few patients to categorize unequivocally, making genetic diagnosis difficult. Computational methods can predict the impact of mutation, but prediction specificity is often below that required for clinical utility. Here, we present a novel supervised learn...

  20. Mutation breeding in mangosteen

    International Nuclear Information System (INIS)

    Mangosteen the queen of the tropical fruits is apomitic and only a cultivar is reported and it reproduces asexually. Conventional breeding is not possible and the other methods to create variabilities are through genetic engineering and mutation breeding. The former technique is still in the infantry stage in mangosteen research while the latter has been an established tool in breeding to improve cultivars. In this mutation breeding seeds of mangosteen were irradiated using gamma rays and the LD 50 for mangosteen was determined and noted to be very low at 10 Gy. After sowing in the seedbed, the seedlings were transplanted in polybags and observed in the nursery bed for about one year before planted in the field under old oil palm trees in Station MARDI, Kluang. After evaluation and screening, about 120 mutant mangosteen plants were selected and planted in Kluang. The plants were observed and some growth data taken. There were some mutant plants that have good growth vigour and more vigorous that the control plants. The trial are now in the fourth year and the plants are still in the juvenile stage. (Author)

  1. Mutation breeding in chickpea

    International Nuclear Information System (INIS)

    Chickpea is an important food legume in Turkey. Turkey is one of the most important gene centers in the world for legumes. Realizing the potential of induced mutations, a mutation breeding programme was initiated at the Nuclear Agriculture Section of the Saraykoy Nuclear Research and Training Center in 1994. The purpose of the study was to obtain high yielding chickpea mutants with large seeds, good cooking quality and high protein content. Beside this some characters such as higher adaptation ability, tolerant to cold and drought, increased machinery harvest type, higher yield, resistant to diseases especially to antracnose and pest were investigated too. Parent varieties were ILC-482, AK-7114 and AKCIN-91 had been used in these experiments. The irradiation doses were 0 (control), 50, 100, 150, 200, 250, 300, 350 and 400 Gy for field experiments, respectively. As a result of these experiments, two promising mutant lines were chosen and given to the Seed Registration and Certification Center for official registration These two promising mutants were tested at five different locations of Turkey, in 2004 and 2005 years. After 2 years of registration experiments one of outstanding mutants was officially released as mutant chickpea variety under the name TAEK-SAGEL, in 2006. Some basic characteristics of this mutant are; earliness (95-100 day), high yield capacity (180-220 kg/da), high seed protein (22-25 %), first pot height (20-25 cm), 100 seeds weight (42-48 g), cooking time (35-40 min) and resistance to Ascochyta blight.

  2. Hemochromatosis (HFE gene mutations in Brazilian chronic hemodialysis patients

    Directory of Open Access Journals (Sweden)

    F.V. Perícole

    2005-09-01

    Full Text Available Patients with chronic renal insufficiency (CRI have reduced hemoglobin levels, mostly as a result of decreased kidney production of erythropoietin, but the relation between renal insufficiency and the magnitude of hemoglobin reduction has not been well defined. Hereditary hemochromatosis is an inherited disorder of iron metabolism. The importance of the association of hemochromatosis with treatment for anemia among patients with CRI has not been well described. We analyzed the frequency of the C282Y and H63D mutations in the HFE gene in 201 Brazilian individuals with CRI undergoing hemodialysis. The analysis of the effects of HFE mutations on iron metabolism and anemia with biochemical parameters was possible in 118 patients of this study (hemoglobin, hematocrit, ferritin levels, transferrin saturation, and serum iron. A C282Y heterozygous mutation was found in 7/201 (3.4% and H63D homozygous and heterozygous mutation were found in 2/201 (1.0% and 46/201 (22.9%, respectively. The allelic frequencies of the HFE mutations (0.017 for C282Y mutation and 0.124 for H63D mutation did not differ between patients with CRI and healthy controls. Regarding the biochemical parameters, no differences were observed between HFE heterozygous and mutation-negative patients, although ferritin levels were not higher among patients with the H63D mutation (P = 0.08. From what we observed in our study, C282Y/H63D HFE gene mutations are not related to degrees of anemia or iron stores in CRI patients receiving intravenous iron supplementation (P > 0.10. Nevertheless, the present data suggest that the H63D mutation may have an important function as a modulating factor of iron overload in these patients.

  3. Mitochondrial DNA mutations in single human blood cells.

    Science.gov (United States)

    Yao, Yong-Gang; Kajigaya, Sachiko; Young, Neal S

    2015-09-01

    Determination mitochondrial DNA (mtDNA) sequences from extremely small amounts of DNA extracted from tissue of limited amounts and/or degraded samples is frequently employed in medical, forensic, and anthropologic studies. Polymerase chain reaction (PCR) amplification followed by DNA cloning is a routine method, especially to examine heteroplasmy of mtDNA mutations. In this review, we compare the mtDNA mutation patterns detected by three different sequencing strategies. Cloning and sequencing methods that are based on PCR amplification of DNA extracted from either single cells or pooled cells yield a high frequency of mutations, partly due to the artifacts introduced by PCR and/or the DNA cloning process. Direct sequencing of PCR product which has been amplified from DNA in individual cells is able to detect the low levels of mtDNA mutations present within a cell. We further summarize the findings in our recent studies that utilized this single cell method to assay mtDNA mutation patterns in different human blood cells. Our data show that many somatic mutations observed in the end-stage differentiated cells are found in hematopoietic stem cells (HSCs) and progenitors within the CD34(+) cell compartment. Accumulation of mtDNA variations in the individual CD34+ cells is affected by both aging and family genetic background. Granulocytes harbor higher numbers of mutations compared with the other cells, such as CD34(+) cells and lymphocytes. Serial assessment of mtDNA mutations in a population of single CD34(+) cells obtained from the same donor over time suggests stability of some somatic mutations. CD34(+) cell clones from a donor marked by specific mtDNA somatic mutations can be found in the recipient after transplantation. The significance of these findings is discussed in terms of the lineage tracing of HSCs, aging effect on accumulation of mtDNA mutations and the usage of mtDNA sequence in forensic identification. PMID:26149767

  4. Recurrent NRAS mutations in pulmonary Langerhans cell histiocytosis.

    Science.gov (United States)

    Mourah, Samia; How-Kit, Alexandre; Meignin, Véronique; Gossot, Dominique; Lorillon, Gwenaël; Bugnet, Emmanuelle; Mauger, Florence; Lebbe, Celeste; Chevret, Sylvie; Tost, Jörg; Tazi, Abdellatif

    2016-06-01

    The mitogen-activated protein kinase (MAPK) pathway is constantly activated in Langerhans cell histiocytosis (LCH). Mutations of the downstream kinases BRAF and MAP2K1 mediate this activation in a subset of LCH lesions. In this study, we attempted to identify other mutations which may explain the MAPK activation in nonmutated BRAF and MAP2K1 LCH lesions.We analysed 26 pulmonary and 37 nonpulmonary LCH lesions for the presence of BRAF, MAP2K1, NRAS and KRAS mutations. Grossly normal lung tissue from 10 smoker patients was used as control. Patient spontaneous outcomes were concurrently assessed.BRAF(V600E) mutations were observed in 50% and 38% of the pulmonary and nonpulmonary LCH lesions, respectively. 40% of pulmonary LCH lesions harboured NRAS(Q61K) (/R) mutations, whereas no NRAS mutations were identified in nonpulmonary LCH biopsies or in lung tissue control. In seven out of 11 NRAS(Q61K) (/R)-mutated pulmonary LCH lesions, BRAF(V600) (E) mutations were also present. Separately genotyping each CD1a-positive area from the same pulmonary LCH lesion demonstrated that these concurrent BRAF and NRAS mutations were carried by different cell clones. NRAS(Q61K) (/R) mutations activated both the MAPK and AKT (protein kinase B) pathways. In the univariate analysis, the presence of concurrent BRAF(V600E) and NRAS(Q61K) (/R) mutations was significantly associated with patient outcome.These findings highlight the importance of NRAS genotyping of pulmonary LCH lesions because the use of BRAF inhibitors in this context may lead to paradoxical disease progression. These patients might benefit from MAPK kinase inhibitor-based treatments. PMID:27076591

  5. Epidemiologic study on penile cancer in Brazil

    Directory of Open Access Journals (Sweden)

    Luciano A. Favorito

    2008-10-01

    Full Text Available OBJECTIVES: To assess epidemiologic characteristics of penile cancer in Brazil. MATERIALS AND METHODS: From May 2006 to June 2007, a questionnaire was distributed to all Brazilian urologists. Their patients' clinical and epidemiological data was analyzed (age, race, place of residence, history of sexually transmitted diseases, tobacco smoking, performance of circumcision, type of hospital service, as well as the time between the appearance of the symptoms and the diagnosis, the pathological characteristics of the tumor (histological type, degree, localization and size of lesion, stage of disease, the type of treatment performed and the present state of the patient. RESULTS: 283 new cases of penile cancer in Brazil were recorded. The majority of these cases occurred in the north and northeast (53.02% and southeast (45.54% regions. The majority of patients (224, or 78.96% were more than 46 years of age while only 21 patients (7.41% were less than 35 years of age. Of the 283 patients presenting penile cancer, 171 (60.42% had phimosis with the consequent impossibility to expose the glans. A prior medical history positive for HPV infection was reported in 18 of the 283 cases (6.36%. In 101 patients (35.68% tobacco smoking was reported. The vast majority of the cases (n = 207; 73.14% presented with tumors localized in the glans and prepuce. In 48 cases (16.96% the tumor affected the glans, the prepuce and the corpus penis; in 28 cases (9.89% the tumor affected the entire penis. The majority of the patients (n = 123; 75.26% presented with T1 or T2; only 9 patients (3.18% presented with T4 disease. CONCLUSION: Penile cancer is a very frequent pathology in Brazil, predominantly affecting low income, white, uncircumcised patients, living in the north and northeast regions of the country.

  6. Genetic counseling and presymptomatic testing programs for Machado-Joseph disease: lessons from Brazil and Portugal

    Directory of Open Access Journals (Sweden)

    Lavínia Schuler-Faccini

    2014-01-01

    Full Text Available Machado-Joseph disease (MJD is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testing (PST can be used to identify persons at risk of developing the disease. Genetic counseling provides patients with information about the disease, genetic risks, PST, and the decision-making process. In this study, we present the protocol used in PST for MJD and the relevant observations from two centers: Brazil (Porto Alegre and Portugal (Porto. We provide a case report that illustrates the significant ethical and psychological issues related to PST in late-onset neurological disorders. In both centers, counseling and PST are performed by a multidisciplinary team, and genetic testing is conducted at the same institutions. From 1999 to 2012, 343 individuals sought PST in Porto Alegre; 263 (77% of these individuals were from families with MJD. In Porto, 1,530 individuals sought PST between 1996 and 2013, but only 66 (4% individuals were from families with MJD. In Brazil, approximately 50% of the people seeking PST eventually took the test and received their results, whereas 77% took the test in Portugal. In this case report, we highlight several issues that might be raised by the consultand and how the team can extract significant information. Literature about PST testing for MJD and other SCAs is scarce, and we hope this report will encourage similar studies and enable the implementation of PST protocols in other populations, mainly in Latin America.

  7. Mutation breeding newsletter. No. 43

    International Nuclear Information System (INIS)

    This issue of the Newsletter includes articles dealing with radiation induced mutation based plant breeding research findings aimed at improving productivity, disease resistance and tolerance of stress conditions

  8. Space activities in Brazil

    Science.gov (United States)

    Carvalho, H.; Kono, J.; Quintino, M.; Perondi, L.

    Brazilian space activities develop around three main programs, namely, the China-Brazil Earth Resources Satellite (CBERS) , the Applications Satellite program, comprising the Multi-Mission Platform and associated remote sensing payloads (radar and optical), and the Scientific Satellites program. Increasing national industry participation and acquiring new technology are strategic goals established for all programs. CBERS program is the result of successful long term cooperation between China and Brazil for the development of remote sensing satellites. Initially comprising two satellites, launched in 1999 and 2003, and now extended to four, this cooperation fulfills the needs of both countries in earth imagery. CBERS satellites are designed for global coverage and include cameras for high spatial resolution and wide field of view, in the visible, near infrared spectrum, an infrared multi-spectral scanner, and a Transponder for the Brazilian Environmental Data Collection System to gather data on the environment. They are unique systems due to the use of onboard cameras which combine features that are specially designed to resolve the broad range of space and time scales involved in our ecosystem. Applications satellites, mainly devoted to optical and radar remote sensing, are being developed in the frame of international cooperation agreements, and will be based on the use of a recurrent Multi-Mission Platform (MMP), currently under development. The MMP will be 3-axes stabilized and will have a fine pointing capability, in several pointing modes, such as Earth, Inertial or Sun pointing. Missions will be focused on natural resources observation and monitoring.. The Program for Scientific Satellites is based on low-cost micro-satellites and aims at providing frequent flight opportunities for scientific research from space, whilst serving as a technological development platform, involving Research Institutes, Universities and National Industry. Current projects are FBM

  9. Brazil: public health genomics.

    Science.gov (United States)

    Castilla, E E; Luquetti, D V

    2009-01-01

    Brazil represents half of South America and one third of Latin America, having more than 186 million inhabitants. After China and India it is the third largest developing country in the world. The wealth is unequally distributed among the states and among the people. Brazil has a large and complex health care system. A Universal Public Health System (SUS: Sistema SPACEnico de Saúde) covers the medical expenses for 80% of the population. The genetic structure of the population is very complex, including a large proportion of tri- hybrid persons, genetic isolates, and a panmictic large majority. Genetic services are offered at 64 genetic centers, half of them public and free. Nationwide networks are operating for inborn errors of metabolism, oncogenetics, and craniofacial anomalies. The Brazilian Society of Medical Genetics (SBGM) has granted 120 board certifications since 1986, and 7 recognized residences in medical genetics are operating in the country. Three main public health actions promoted by the federal government have been undertaken in the last decade, ultimately aimed at the prevention of birth defects. Since 1999, birth defects are reported for all 3 million annual live births, several vaccination strategies aim at the eradication of rubella, and wheat and maize flours are fortified with folic acid. Currently, the government distributes over 2 million US dollars to finance 14 research projects aimed at providing the basis for the adequate prevention and care of genetics disorders through the SUS. Continuity of this proactive attitude of the government in the area of genomics in public health is desired. PMID:19023184

  10. Mutation breeding newsletter. Index issue no. 11-20

    International Nuclear Information System (INIS)

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  11. Induced mutations for improvement of grain legume production II

    International Nuclear Information System (INIS)

    Out of 18 papers presented, 15 fall within the INIS subject scope. Other topics covered were: mutagenic efficiency of ethylmethane sulphonate in soybean; induced mutations for rust resistance in soybean; and nitrogen fixation-potentials for improvement in legumes

  12. Limit Cycles Sparked by Mutation in the Repeated Prisoner's Dilemma

    CERN Document Server

    Toupo, Danielle F P; Strogatz, Steven H

    2015-01-01

    We explore a replicator-mutator model of the repeated Prisoner's Dilemma involving three strategies: always cooperate (ALLC), always defect (ALLD), and tit-for-tat (TFT). The dynamics resulting from single unidirectional mutations are considered, with detailed results presented for the mutations TFT $\\rightarrow$ ALLC and ALLD $\\rightarrow$ ALLC. For certain combinations of parameters, given by the mutation rate $\\mu$ and the complexity cost $c$ of playing tit-for-tat, we find that the population settles into limit cycle oscillations, with the relative abundance of ALLC, ALLD, and TFT cycling periodically. Surprisingly, these oscillations can occur for unidirectional mutations between any two strategies. In each case, the limit cycles are created and destroyed by supercritical Hopf and homoclinic bifurcations, organized by a Bogdanov-Takens bifurcation. Our results suggest that stable oscillations are a robust aspect of a world of ALLC, ALLD, and costly TFT; the existence of cycles does not depend on the deta...

  13. Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta.

    Science.gov (United States)

    McKnight, D A; Simmer, J P; Hart, P S; Hart, T C; Fisher, L W

    2008-12-01

    Dentinogenesis imperfecta (DGI) and dentin dysplasia (DD) are allelic disorders due to mutations in DSPP. Typically, the phenotype breeds true within a family. Recently, two reports showed that 3 different net -1 bp frameshift mutations early in DSPP's repeat domain caused DD, whereas 6 more 3' frameshift mutations were associated with DGI. Here we identify a DD kindred with a novel -1 bp frameshift (c.3141delC) that falls within the portion of the DSPP repeat domain previously associated solely with the DGI phenotype. This new frameshift mutation shows that overlapping DSPP mutations can give rise to either DGI or DD phenotypes. Furthermore, the consistent kindred presentation of the DD or DGI phenotype appears to be dependent on an as-yet-undescribed genetic modifier closely linked to DSPP.

  14. Somatic mutation patterns and compound response in cancers

    Directory of Open Access Journals (Sweden)

    Ningning He

    2013-02-01

    Full Text Available The use of various cancer cell lines can recapitulate knowntumor-associated mutations and genetically define cancersubsets. This approach also enables comparative surveys ofassociations between cancer mutations and drug responses.Here, we analyzed the effects of ∼40,000 compounds oncancer cell lines that showed diverse mutation-dependentsensitivity profiles. Over 1,000 compounds exhibited uniquesensitivity on cell lines with specific mutational genotypes,and these compounds were clustered into six different classesof mutation-oriented sensitivity. The present analysis providesnew insights into the relationship between somatic mutationsand selectivity response of chemicals, and these results shouldhave applications related to predicting and optimizing therapeuticwindows for anti-cancer agents. [BMB Reports 2013;46(2: 97-102

  15. DNA Sequence Evolution with Neighbor-Dependent Mutation

    CERN Document Server

    Arndt, P F; Hwa, T; Arndt, Peter F.; Burge, Christopher B.; Hwa, Terence

    2001-01-01

    We introduce a model of DNA sequence evolution which can account for biases in mutation rates that depend on the identity of the neighboring bases. An analytic solution for this class of non-equilibrium models is developed by adopting well-known methods of nonlinear dynamics. Results are presented for the CpG-methylation-deamination process which dominates point substitutions in vertebrates. The dinucleotide frequencies generated by the model (using empirically obtained mutation rates) match the overall pattern observed in non-coding DNA. A web-based tool has been constructed to compute single- and dinucleotide frequencies for arbitrary neighbor-dependent mutation rates. Alsoprovided is the backward procedure to infer the mutation rates using maximum likelihood analysis given the observed single- and dinucleotide frequencies. Reasonable estimates of the mutation rates can be obtained very efficiently, using generic non-coding DNA sequences as input, after masking outlong homonucleotide subsequences. Our metho...

  16. Detecting Genetic Introgression: High Levels of Intersubspecific Recombination Found in Xylella fastidiosa in Brazil

    OpenAIRE

    Nunney, Leonard; Yuan, Xiaoli; Bromley, Robin E.; Stouthamer, Richard

    2012-01-01

    Documenting the role of novel mutation versus homologous recombination in bacterial evolution, and especially in the invasion of new hosts, is central to understanding the long-term dynamics of pathogenic bacteria. We used multilocus sequence typing (MLST) to study this issue in Xylella fastidiosa subsp. pauca from Brazil, a bacterium causing citrus variegated chlorosis (CVC) and coffee leaf scorch (CLS). All 55 citrus isolates typed (plus one coffee isolate) defined three similar sequence ty...

  17. Olefin metathesis in Brazil: Brazil is romping it{exclamation_point}; Metatese de olefinas no Brasil: 'Brazil is romping it{exclamation_point}'

    Energy Technology Data Exchange (ETDEWEB)

    Matos, Jose Milton E.; Batista, Nouga C.; Carvalho, Rogerio M.; Santana, Sirlane A. A.; Puzzi, Paula N.; Sanches, Mario; Lima-Neto, Benedito S. [Sao Paulo Univ., Sao Carlos, SP (Brazil). Inst. de Quimica]. E-mail: benedito@iqsc.usp.br

    2007-03-15

    Some aspects of the olefin metathesis reactions are summarized here (types of reactions, mechanism and catalysts). In particular, the research groups that have been working on this chemistry in Brazil are presented. The main goal of this paper is to make this type of reaction more widely known in the Brazilian chemical community. (author)

  18. Zika virus infections imported from Brazil to Portugal, 2015.

    Science.gov (United States)

    Zé-Zé, L; Prata, M B; Teixeira, T; Marques, N; Mondragão, A; Fernandes, R; Saraiva da Cunha, J; Alves, M J

    2016-01-01

    Zika virus is an emerging arbovirus transmitted by Aedes sp. mosquitoes like the Dengue and Chikungunya viruses. Zika virus was until recently considered a mild pathogenic mosquito-borne flavivirus with very few reported benign human infections. In 2007, an epidemic in Micronesia initiated the turnover in the epidemiological history of Zika virus and more recently, the potential association with congenital microcephaly cases in Brazil 2015, still under investigation, led the World Health Organization (WHO) to declare a Public Health Emergency of International Concern on February 1, 2016. Here, we present the clinical and laboratory aspects related to the first four imported human cases of Zika virus in Portugal from Brazil, and alert, regarding the high level of traveling between Portugal and Brazil, and the ongoing expansion of this virus in the Americas, for the threat for Zika virus introduction in Europe and the possible introduction to Madeira Island where Aedes aegypti is present. PMID:27134823

  19. Medical and agricultural entomology in Brazil: a historical approach.

    Science.gov (United States)

    Benchimol, J L

    2008-12-01

    Medical Entomology emerged in Brazil in the late nineteenth century, through the initiative of a group of physicians dedicated to researching microorganisms related to diseases of public health importance, especially yellow fever and malaria. They led the institutionalization of Bacteriology and Tropical Medicine in southeast Brazil and the sanitation of coastal cities and, subsequently, rural areas. Medical Entomology provided the professionals who would undertake campaigns against agricultural plagues, as well as the institutionalization of Agronomy and Veterinary Medicine. In the present article, I intend to show how relations between the professionals who gave life to Medical Entomology in Brazil were interwoven and to illustrate their relations with entomologists in other countries. I will also present an overview of the research problems faced by Brazilian entomologists at the turn of the nineteenth century and early decades of the twentieth.

  20. Emerging Trend of Mutation Profile of rpoB Gene in MDR Tuberculosis, North India.

    Science.gov (United States)

    Makadia, Jemil S; Jain, Anju; Patra, Surajeet Kumar; Sherwal, B L; Khanna, Ashwani

    2012-10-01

    The present study was conducted on North Indian population to observe rpoB gene mutation profile in multidrug resistant Mycobacterium tuberculosis. This was an observational study. 30 cases of MDR-TB proven by culture and drug sensitivity were selected. DNA sequencing of 81 bp (codon 507-533) long RRDR of Mycobacterium tuberculosis was done to detect the sites of mutation. Out of 30 cases, 24 showed a single mutation in the RRDR region of rpoB gene in which 16 (53.33 %) showed mutation in codon 531(TCG→TTG), 5 cases (16.66 %) showed mutation in codon 526(CAC→TAC), mutation in codon 516(GAC→GTC, AAC) was present in 3 cases (10 %). It was also observed that mutation in more than one codon was present in 4 cases (13.33 %), which included deletion at codon 509(AGC→-GC), mutation at 513(CAA→CTA), 516, 526, 529(CGA→CTA) and 531. No mutation was detected in RRDR in 2 cases (6.66 %). Our finding of 13.33 % cases with multiple sites of mutation in RRDR region is in contrast to earlier studies done in North India which showed single mutation detected in RRDR of rpoB gene that highlights the emerging change in the trend of mutation profile of rpoB gene in rifampicin resistant Mycobacterium tuberculosis. PMID:24082462

  1. Mitochondrial gene mutations and type 2 diabetes in Chinese families

    Institute of Scientific and Technical Information of China (English)

    LI Ming-zhen; YU De-min; YU Pei; LIU De-min; WANG Kun; TANG Xin-zhi

    2008-01-01

    Background Numerous mitochondrial DNA mutations are significantly correlated with development of diabetes. This study investigated mitochondrial gene, point mutations in patients with type 2 diabetes and their families. Methods Unrelated patients with type 2 diabetes(n=826)were randomly recruited; unrelated and nondiabetic subjects (n=637)served as controls. The clinical and biochemical data of the participants were collected. Total genome was extracted from peripheral leucocytes. Polymerase chain reaction, restriction fragment length polymorphism (PCR-RFLP)and clonig techniques were used to screen mitochondrial genes including np3316,np3394 and np3426 in the ND1 region and np3243 in the tRNALeu (UUR). Results In 39 diabetics with one or more mitochondrial gene point mutations, the prevalence(4.7%,39/826)of mtDNA mutations was higher than that(0.7%,5/637)in the controls. The identical mutation was found in 23 of 43 tested members from three pedigrees. Affected family members presented with variable clinical features ranging from normal glucose tolerance to impaired glucose tolerance (IGT)(n=2),impaired fasting glucose(IFG)(n=1)to type 2 diabetes (n=13)with 3 family members suffering from hearing loss. Conclusions Type 2 diabetes in China is associated with several mitochondrial gene mutations. Aged patients with diabetic family history had a higher prevalence of mutation and various clinical pictures. Mitochondrial gene mutation might be one of the genetic factors contributing to diabetic familial clustering.

  2. RADIA: RNA and DNA integrated analysis for somatic mutation detection.

    Directory of Open Access Journals (Sweden)

    Amie J Radenbaugh

    Full Text Available The detection of somatic single nucleotide variants is a crucial component to the characterization of the cancer genome. Mutation calling algorithms thus far have focused on comparing the normal and tumor genomes from the same individual. In recent years, it has become routine for projects like The Cancer Genome Atlas (TCGA to also sequence the tumor RNA. Here we present RADIA (RNA and DNA Integrated Analysis, a novel computational method combining the patient-matched normal and tumor DNA with the tumor RNA to detect somatic mutations. The inclusion of the RNA increases the power to detect somatic mutations, especially at low DNA allelic frequencies. By integrating an individual's DNA and RNA, we are able to detect mutations that would otherwise be missed by traditional algorithms that examine only the DNA. We demonstrate high sensitivity (84% and very high precision (98% and 99% for RADIA in patient data from endometrial carcinoma and lung adenocarcinoma from TCGA. Mutations with both high DNA and RNA read support have the highest validation rate of over 99%. We also introduce a simulation package that spikes in artificial mutations to patient data, rather than simulating sequencing data from a reference genome. We evaluate sensitivity on the simulation data and demonstrate our ability to rescue back mutations at low DNA allelic frequencies by including the RNA. Finally, we highlight mutations in important cancer genes that were rescued due to the incorporation of the RNA.

  3. RADIA: RNA and DNA integrated analysis for somatic mutation detection.

    Science.gov (United States)

    Radenbaugh, Amie J; Ma, Singer; Ewing, Adam; Stuart, Joshua M; Collisson, Eric A; Zhu, Jingchun; Haussler, David

    2014-01-01

    The detection of somatic single nucleotide variants is a crucial component to the characterization of the cancer genome. Mutation calling algorithms thus far have focused on comparing the normal and tumor genomes from the same individual. In recent years, it has become routine for projects like The Cancer Genome Atlas (TCGA) to also sequence the tumor RNA. Here we present RADIA (RNA and DNA Integrated Analysis), a novel computational method combining the patient-matched normal and tumor DNA with the tumor RNA to detect somatic mutations. The inclusion of the RNA increases the power to detect somatic mutations, especially at low DNA allelic frequencies. By integrating an individual's DNA and RNA, we are able to detect mutations that would otherwise be missed by traditional algorithms that examine only the DNA. We demonstrate high sensitivity (84%) and very high precision (98% and 99%) for RADIA in patient data from endometrial carcinoma and lung adenocarcinoma from TCGA. Mutations with both high DNA and RNA read support have the highest validation rate of over 99%. We also introduce a simulation package that spikes in artificial mutations to patient data, rather than simulating sequencing data from a reference genome. We evaluate sensitivity on the simulation data and demonstrate our ability to rescue back mutations at low DNA allelic frequencies by including the RNA. Finally, we highlight mutations in important cancer genes that were rescued due to the incorporation of the RNA. PMID:25405470

  4. Plant mutation reports, Vol. 2, No. 1, December 2008

    International Nuclear Information System (INIS)

    The International Symposium on Induced Mutations in Plants (ISIMP) was successfully held in Vienna, Austria 12-15 August 2008. It attracted more almost 500 participants, demonstrating a broad interest in induced mutations in the plant breeding and research community. The titles of oral presentations are included in this issue. Some papers submitted to the Symposium by authors who were unable to attend the Symposium are included in this issue. In this issue, you will learn that mutations can be induced in uncommon plants using various means and utilized for various purposes. For example, Kacholam, guar and cocoyam are not widely cultivated crop species and there is very limited genetic variability, Kanakamanay, Arora et al. and Ndzana et al. reported the induction of mutations as a valuable source of genetic variability in these crops. Rice is a staple food crop and has a history of successful application of mutation techniques for its improvement; however, the virus resistant mutant varieties released in the United Republic of Tanzania, the cold tolerant mutant lines developed in Madagascar and the use of proton radiation for mutation induction in this field. The use of mutation techniques for improving tomato productivity in low water supply area, for increasing crossability and progeny fertility of mungbean crossed with its wild relative species and for investigating leaf structure in mungbean are convincing examples of the usefulness of mutation techniques

  5. Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations

    Directory of Open Access Journals (Sweden)

    C. Neto E.

    2004-01-01

    Full Text Available Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms. Fortunately, it can be treated and the symptoms prevented by oral administration of the vitamin biotin. Using dried blood-soaked filter paper cards, biotinidase activity was determined in the sera of 225,136 newborns in Brazil. Mutation analysis performed on DNA from 21 babies with low serum biotinidase activity confirmed that 3 had profound biotinidase deficiency (less than 10% of mean normal sera biotinidase activity, 10 had partial biotinidase deficiency (10 to 30% of mean normal serum activity, 1 was homozygous for partial biotinidase deficiency, 4 were heterozygous for either profound or partial deficiency, and 3 were normal. Variability in serum enzyme activities and discrepancies with mutation analyses were probably due to inappropriate handling and storage of samples sent to the laboratory. Obtaining an appropriate control serum at the same time as that of the suspected child will undoubtedly decrease the false-positive rate (0.09%. Mutation analysis can be used to confirm the genotype of these children. The estimated incidence of biotinidase deficiency in Brazil is about 1 in 9,000, higher than in most other countries. Screening and treatment of biotinidase deficiency are effective and warranted. These results strongly suggest that biotinidase deficiency should be included in the newborn mass screening program of Brazil.

  6. Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations.

    Science.gov (United States)

    Neto, E C; Schulte, J; Rubim, R; Lewis, E; DeMari, J; Castilhos, C; Brites, A; Giugliani, R; Jensen, K P; Wolf, B

    2004-03-01

    Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms. Fortunately, it can be treated and the symptoms prevented by oral administration of the vitamin biotin. Using dried blood-soaked filter paper cards, biotinidase activity was determined in the sera of 225,136 newborns in Brazil. Mutation analysis performed on DNA from 21 babies with low serum biotinidase activity confirmed that 3 had profound biotinidase deficiency (less than 10% of mean normal sera biotinidase activity), 10 had partial biotinidase deficiency (10 to 30% of mean normal serum activity), 1 was homozygous for partial biotinidase deficiency, 4 were heterozygous for either profound or partial deficiency, and 3 were normal. Variability in serum enzyme activities and discrepancies with mutation analyses were probably due to inappropriate handling and storage of samples sent to the laboratory. Obtaining an appropriate control serum at the same time as that of the suspected child will undoubtedly decrease the false-positive rate (0.09%). Mutation analysis can be used to confirm the genotype of these children. The estimated incidence of biotinidase deficiency in Brazil is about 1 in 9,000, higher than in most other countries. Screening and treatment of biotinidase deficiency are effective and warranted. These results strongly suggest that biotinidase deficiency should be included in the newborn mass screening program of Brazil. PMID:15060693

  7. HIV-1 genotypic resistance profile of patients failing antiretroviral therapy in Paraná, Brazil

    Directory of Open Access Journals (Sweden)

    Paula Virginia Michelon Toledo

    2010-08-01

    Full Text Available Antiretroviral therapy (ART has reduced morbidity and mortality related to human immunodeficiency virus (HIV infection, but in spite of this advance, HIV mutations decrease antiretroviral susceptibility, thus contributing to treatment failure in patients. Genotyping HIV-1 allows the selection of new drugs after initial drug failure. This study evaluated the genotypic profile of HIV-1 isolates from treated (drug-experienced patients in Paraná, Brazil. The prevalence of mutations in reverse transcriptase (RT and protease (PR genes were assessed. We analyzed 467 genotypes of patients with HIV-1 viral loads above 1,000 copies/mL. Mutations at HIV-1 RT and PR genes and previously used ART regimens were recorded. The most prevalent RT mutations were: 184V (68.31%, 215YF (51.6%, 103NS (46%, 41L (39.4%, 67N (38.54%, 210W (23.5%, 190ASE (23.2%, and 181C (17.4%. PR mutations were 90M (33.33%, 82ATFS (29%, 46I (26.8% and 54V (22.2%. The prevalence of mutations was in line with previous national and international reports, except to nonnucleoside analogue reverse transcriptase inhibitors related mutations, which were more prevalent in this study. Previous exposure to antiretroviral drugs was associated with genotypic resistance to specific drugs, leading to treatment failure in HIV patients.

  8. MHC Class Ⅰ Antigen Presentation- Recently Trimmed and Well Presented

    Institute of Scientific and Technical Information of China (English)

    Barry Flutter; Bin Gao

    2004-01-01

    Presentation of antigenic peptide to T cells by major histocompatibility complex (MHC) class Ⅰ molecules is the key to the cellular immune response. Non-self intracellular proteins are processed into short peptides and transported into endoplasmic reticulum (ER) where they are assembled with class Ⅰ molecules assisted by several chaperone proteins to form trimeric complex. MHC class Ⅰ complex loaded with optimised peptides travels to the cell surface of antigen presentation cells to be recognised by T cells. The cells presenting non-self peptides are cleared by CD8 positive T cells. In order to ensure that T cells detect an infection or mutation within the target cells the process of peptide loading and class Ⅰ expression must be carefully regulated. Many of the cellular components involved in antigen processing and class Ⅰ presentation are known and their various functions are now becoming clearer. Cellular & Molecular Immunology. 2004;1(1):22-30.

  9. MHC Class I Antigen Presentation- Recently Trimmed and Well Presented

    Institute of Scientific and Technical Information of China (English)

    BarryFlutter; BinGao

    2004-01-01

    Presentation of antigenic peptide to T cells by major histocompatibility complex (MHC) class I molecules is the key to the cellular immune response. Non-self intracellular proteins are processed into short peptides and transported into endoplasmic reticulum (ER) where they are assembled with class I molecules assisted by several chaperone proteins to form trimeric complex. MHC class I complex loaded with optimised peptides travels to the cell surface of antigen presentation cells to be recognised by T cells. The cells presenting non-self peptides are cleared by CD8 positive T cells. In order to ensure that T cells detect an infection or mutation within the target cells the process of peptide loading and class I expression must be carefully regulated. Many of the cellular components involved in antigen processing and class I presentation are known and their various functions are now becoming clearer. Cellular & Molecular Immunology. 2004;1(1):22-30.

  10. Driver Mutations in Uveal Melanoma

    Science.gov (United States)

    Decatur, Christina L.; Ong, Erin; Garg, Nisha; Anbunathan, Hima; Bowcock, Anne M.; Field, Matthew G.; Harbour, J. William

    2016-01-01

    IMPORTANCE Frequent mutations have been described in the following 5 genes in uveal melanoma (UM): BAP1, EIF1AX, GNA11, GNAQ, and SF3B1. Understanding the prognostic significance of these mutations could facilitate their use in precision medicine. OBJECTIVE To determine the associations between driver mutations, gene expression profile (GEP) classification, clinicopathologic features, and patient outcomes in UM. DESIGN, SETTING, AND PARTICIPANTS Retrospective study of patients with UM treated by enucleation by a single ocular oncologist between November 1, 1998, and July 31, 2014. MAIN OUTCOMES AND MEASURES Clinicopathologic features, patient outcomes, GEP classification (class 1 or class 2), and mutation status were recorded. RESULTS The study cohort comprised 81 participants. Their mean age was 61.5 years, and 37% (30 of 81) were female. The GEP classification was class 1 in 35 of 81 (43%), class 2 in 42 of 81 (52%), and unknown in 4 of 81 (5%). BAP1 mutations were identified in 29 of 64 (45%), GNAQ mutations in 36 of 81 (44%), GNA11 mutations in 36 of 81 (44%), SF3B1 mutations in 19 of 81 (24%), and EIF1AX mutations in 14 of 81 (17%). Sixteen of the mutations in BAP1 and 6 of the mutations in EIF1AX were previously unreported in UM. GNAQ and GNA11 mutations were mutually exclusive. BAP1, SF3B1, and EIF1AX mutations were almost mutually exclusive with each other. Using multiple regression analysis, BAP1 mutations were associated with class 2 GEP and older patient. EIF1AX mutations were associated with class 1 GEP and the absence of ciliary body involvement. SF3B1 mutations were associated with younger patient age. GNAQ mutations were associated with the absence of ciliary body involvement and greater largest basal diameter. GNA11 mutations were not associated with any of the analyzed features. Using Cox proportional hazards modeling, class 2 GEP was the prognostic factor most strongly associated with metastasis (relative risk, 9.4; 95% CI, 3.1–28.5) and

  11. Mutation breeding in soybean

    International Nuclear Information System (INIS)

    In Indonesia, soybean is one of the important crop after rice. It is generally cultivated in the lowlands and rarely in the highlands. Seeds of soybean variety ORBA were treated with various doses of fast neutrons, gamma rays, EMS and NaN3 with the aims of studying the mutagen effects in M-1 and M-2 generations and also to select mutants adapted to highland conditions. D-50 doses for gamma rays, fast neutrons and EMS were around 23 krad, 2,300 rad, 0.3%, respectively. Much higher chlorophyll mutation frequency was observed in EMS treatment of 0.3%. Seven mutants were shorter and four early mutants matured from 4 to 20 days earlier than the control plants. Two early mutants were quite adaptable in both the low and highlands and produced better yields than the parental material. (author)

  12. Escherichia coli frameshift mutation rate depends on the chromosomal context but not on the GATC content near the mutation site.

    Directory of Open Access Journals (Sweden)

    Mariana A Martina

    Full Text Available Different studies have suggested that mutation rate varies at different positions in the genome. In this work we analyzed if the chromosomal context and/or the presence of GATC sites can affect the frameshift mutation rate in the Escherichia coli genome. We show that in a mismatch repair deficient background, a condition where the mutation rate reflects the fidelity of the DNA polymerization process, the frameshift mutation rate could vary up to four times among different chromosomal contexts. Furthermore, the mismatch repair efficiency could vary up to eight times when compared at different chromosomal locations, indicating that detection and/or repair of frameshift events also depends on the chromosomal context. Also, GATC sequences have been proved to be essential for the correct functioning of the E. coli mismatch repair system. Using bacteriophage heteroduplexes molecules it has been shown that GATC influence the mismatch repair efficiency in a distance- and number-dependent manner, being almost nonfunctional when GATC sequences are located at 1 kb or more from the mutation site. Interestingly, we found that in E. coli genomic DNA the mismatch repair system can efficiently function even if the nearest GATC sequence is located more than 2 kb away from the mutation site. The results presented in this work show that even though frameshift mutations can be efficiently generated and/or repaired anywhere in the genome, these processes can be modulated by the chromosomal context that surrounds the mutation site.

  13. Escherichia coli frameshift mutation rate depends on the chromosomal context but not on the GATC content near the mutation site.

    Science.gov (United States)

    Martina, Mariana A; Correa, Elisa M E; Argaraña, Carlos E; Barra, José L

    2012-01-01

    Different studies have suggested that mutation rate varies at different positions in the genome. In this work we analyzed if the chromosomal context and/or the presence of GATC sites can affect the frameshift mutation rate in the Escherichia coli genome. We show that in a mismatch repair deficient background, a condition where the mutation rate reflects the fidelity of the DNA polymerization process, the frameshift mutation rate could vary up to four times among different chromosomal contexts. Furthermore, the mismatch repair efficiency could vary up to eight times when compared at different chromosomal locations, indicating that detection and/or repair of frameshift events also depends on the chromosomal context. Also, GATC sequences have been proved to be essential for the correct functioning of the E. coli mismatch repair system. Using bacteriophage heteroduplexes molecules it has been shown that GATC influence the mismatch repair efficiency in a distance- and number-dependent manner, being almost nonfunctional when GATC sequences are located at 1 kb or more from the mutation site. Interestingly, we found that in E. coli genomic DNA the mismatch repair system can efficiently function even if the nearest GATC sequence is located more than 2 kb away from the mutation site. The results presented in this work show that even though frameshift mutations can be efficiently generated and/or repaired anywhere in the genome, these processes can be modulated by the chromosomal context that surrounds the mutation site.

  14. The problems of nutrition in Brazil.

    Science.gov (United States)

    Sanders, T G

    1982-01-01

    Low income is the factor most often associated with the existence of malnutrition. Malnutrition in Brazil is more frequently found among Brazilians with less than 2 minimum salaries/family and who live in the less developed parts of the country. In 1976, 59.2% of urban residents earned 2 or less minimum salaries. A study found that those rural residents engaged in agriculture on their own or someone else's property were better paid than those who live from salaried labor alone; temporary salaried workers are the largest rural class in Brazil and have the lowest levels of nutrition. In urban areas the informal sector represent the lowest nutrition level group. The issue of food consumption by the lower classes is linked to 4 aspects of Brazilian development: 1) structure of food production, 2) distribution of income, 3) government attempts to influence prices and marketing systems, and 4) the role of government food supplementation programs. Brazil suffers today from unbalanced growth among its various economic sectors and regions, inequitable income distribution, and inadequate public services. The misconception of the necessity of a large industrial base for development resulted in the neglect of the rural sector and thus higher malnutrition. Recent regulatory efforts by the government have begun to increase rural production, but production of agricultural exports has increased at a much more rapid pace than that of domestic food commodities. Small farmers have not taken advantage of new financial opportunities offered by the government to balance production levels because: 1) banks do not have enough for the demand, 2) access to the small producer of foods is difficult, and 3) the present hesitation to risk his few possessions. The largest percentage of income in Brazil goes to the richest classes and the economy is oriented towards meeting the demands of the more prosperous classes. The government's program of minimum support prices has not been successful in

  15. Founder Mutations in Xeroderma Pigmentosum

    OpenAIRE

    Tamura, Deborah; DiGiovanna, John J.; Kraemer, Kenneth H.

    2010-01-01

    In this issue, Soufir et al. report a founder mutation in the XPC DNA repair gene in 74% of families with xeroderma pigmentosum (XP) in the Maghreb region (Algeria, Morocco, and Tunisia) of northern Africa. These patients have a high frequency of skin cancer. The presence of this founder mutation provides an opportunity for genetic counseling and early diagnosis of XP.

  16. Molecular Clock of Neutral Mutations in a Fitness-Increasing Evolutionary Process.

    Directory of Open Access Journals (Sweden)

    Toshihiko Kishimoto

    2015-07-01

    Full Text Available The molecular clock of neutral mutations, which represents linear mutation fixation over generations, is theoretically explained by genetic drift in fitness-steady evolution or hitchhiking in adaptive evolution. The present study is the first experimental demonstration for the molecular clock of neutral mutations in a fitness-increasing evolutionary process. The dynamics of genome mutation fixation in the thermal adaptive evolution of Escherichia coli were evaluated in a prolonged evolution experiment in duplicated lineages. The cells from the continuously fitness-increasing evolutionary process were subjected to genome sequencing and analyzed at both the population and single-colony levels. Although the dynamics of genome mutation fixation were complicated by the combination of the stochastic appearance of adaptive mutations and clonal interference, the mutation fixation in the population was simply linear over generations. Each genome in the population accumulated 1.6 synonymous and 3.1 non-synonymous neutral mutations, on average, by the spontaneous mutation accumulation rate, while only a single genome in the population occasionally acquired an adaptive mutation. The neutral mutations that preexisted on the single genome hitchhiked on the domination of the adaptive mutation. The successive fixation processes of the 128 mutations demonstrated that hitchhiking and not genetic drift were responsible for the coincidence of the spontaneous mutation accumulation rate in the genome with the fixation rate of neutral mutations in the population. The molecular clock of neutral mutations to the fitness-increasing evolution suggests that the numerous neutral mutations observed in molecular phylogenetic trees may not always have been fixed in fitness-steady evolution but in adaptive evolution.

  17. Molecular Clock of Neutral Mutations in a Fitness-Increasing Evolutionary Process.

    Science.gov (United States)

    Kishimoto, Toshihiko; Ying, Bei-Wen; Tsuru, Saburo; Iijima, Leo; Suzuki, Shingo; Hashimoto, Tomomi; Oyake, Ayana; Kobayashi, Hisaka; Someya, Yuki; Narisawa, Dai; Yomo, Tetsuya

    2015-07-01

    The molecular clock of neutral mutations, which represents linear mutation fixation over generations, is theoretically explained by genetic drift in fitness-steady evolution or hitchhiking in adaptive evolution. The present study is the first experimental demonstration for the molecular clock of neutral mutations in a fitness-increasing evolutionary process. The dynamics of genome mutation fixation in the thermal adaptive evolution of Escherichia coli were evaluated in a prolonged evolution experiment in duplicated lineages. The cells from the continuously fitness-increasing evolutionary process were subjected to genome sequencing and analyzed at both the population and single-colony levels. Although the dynamics of genome mutation fixation were complicated by the combination of the stochastic appearance of adaptive mutations and clonal interference, the mutation fixation in the population was simply linear over generations. Each genome in the population accumulated 1.6 synonymous and 3.1 non-synonymous neutral mutations, on average, by the spontaneous mutation accumulation rate, while only a single genome in the population occasionally acquired an adaptive mutation. The neutral mutations that preexisted on the single genome hitchhiked on the domination of the adaptive mutation. The successive fixation processes of the 128 mutations demonstrated that hitchhiking and not genetic drift were responsible for the coincidence of the spontaneous mutation accumulation rate in the genome with the fixation rate of neutral mutations in the population. The molecular clock of neutral mutations to the fitness-increasing evolution suggests that the numerous neutral mutations observed in molecular phylogenetic trees may not always have been fixed in fitness-steady evolution but in adaptive evolution.

  18. MPL mutations in myeloproliferative disorders

    DEFF Research Database (Denmark)

    Beer, Philip A.; Campbell, Peter J.; Scott, Linda M.;

    2008-01-01

    Activating mutations of MPL exon 10 have been described in a minority of patients with idiopathic myelofibrosis (IMF) or essential thrombocythemia (ET), but their prevalence and clinical significance are unclear. Here we demonstrate that MPL mutations outside exon 10 are uncommon in platelet c......DNA and identify 4 different exon 10 mutations in granulocyte DNA from a retrospective cohort of 200 patients with ET or IMF. Allele-specific polymerase chain reaction was then used to genotype 776 samples from patients with ET entered into the PT-1 studies. MPL mutations were identified in 8.5% of JAK2 V617F......(-) patients and a single V617F(+) patient. Patients carrying the W515K allele had a significantly higher allele burden than did those with the W515L allele, suggesting a functional difference between the 2 variants. Compared with V617F(+) ET patients, those with MPL mutations displayed lower hemoglobin...

  19. Radiation-induced forward and reverse specific locus mutations and dominant cataract mutations in treated strain BALB/c and DBA/2 male mice.

    Science.gov (United States)

    Favor, J; Neuhäuser-Klaus, A; Ehling, U H

    1987-03-01

    functional gene product. One reverse mutation at each of the a and d loci was recovered in the present experiments. The similarities of the present results for radiation-induced reverse mutations with the extensive data on the spontaneous reverse mutation rates are interesting. Reverse mutations were recovered only at the a and d loci. Further, the reverse mutations recovered at the a locus were to alternate alleles (at, Aw or Asy) while true reverse mutations were apparently recovered at the d locus.

  20. Contrasting patterns of insecticide resistance and knockdown resistance (kdr in Aedes aegypti populations from Jacarezinho (Brazil after a Dengue Outbreak

    Directory of Open Access Journals (Sweden)

    Oscar Alexander Aguirre-Obando

    2016-03-01

    Full Text Available ABSTRACT After a dengue outbreak, the knowledge on the extent, distribution and mechanisms of insecticide resistance is essential for successful insecticide-based dengue control interventions. Therefore, we evaluated the potential changes to insecticide resistance in natural Aedes aegypti populations to Organophosphates (OP and Pyrethroids (PY after chemical vector control interventions. After a Dengue outbreak in 2010, A. aegypti mosquitoes from the urban area of Jacarezinho (Paraná, Brazil were collected in 2011 and 2012. Insecticide resistance to OP Temephos was assessed in 2011 and 2012 by dose–response bioassays adopting WHO-based protocols. Additionally, in both sampling, PY resistance was also investigated by the Val1016Ile mutation genotyping. In 2011, a random collection of mosquitoes was carried out; while in 2012, the urban area was divided into four regions where mosquitoes were sampled randomly. Bioassays conducted with larvae in 2011 (82 ± 10%; RR95 = 3.6 and 2012 (95 ± 3%; RR95 = 2.5 indicated an incipient altered susceptibility to Temephos. On the other hand, the Val1016IIe mutation analysis in 2011, presented frequencies of the 1016Ilekdr allele equal to 80%. Nevertheless, in 2012, when the urban area of Jacarezinho was analyzed as a single unit, the frequency of the mutant allele was 70%. Additionally, the distribution analysis of the Val1016Ile mutation in 2012 showed the mutant allele frequencies ≥60% in all regions. These outcomes indicated the necessity of developing alternative strategies such as insecticide rotations for delaying the evolution of resistance.

  1. Insecticide resistance in Aedes aegypti populations from Ceará, Brazil

    Directory of Open Access Journals (Sweden)

    Goulart Marilia OF

    2011-01-01

    Full Text Available Abstract Background Organophosphates and pyrethroids are used widely in Brazil to control Aedes aegypti, the main vector of dengue viruses, under the auspices of the National Programme for Dengue Control. Resistance to these insecticides is widespread throughout Brazil. In Ceará the vector is present in 98% of districts and resistance to temephos has been reported previously. Here we measure resistance to temephos and the pyrethroid cypermethrin in three populations from Ceará and use biochemical and molecular assays to characterise resistance mechanisms. Results Resistance to temephos varied widely across the three studied populations, with resistance ratios (RR95 of 7.2, 30 and 192.7 in Juazeiro do Norte, Barbalha and Crato respectively. The high levels of resistance detected in Barbalha and Crato (RR95 ≥ 30 imply a reduction of temephos efficacy, and indeed in simulated field tests reduced effectiveness was observed for the Barbalha population. Two populations (Crato and Barbalha were also resistant to cypermethrin, whilst Juazeiro do Norte showed only an altered susceptibility. The Ile1011Met kdr mutation was detected in all three populations and Val1016Ile in Crato and Juazeiro do Norte. 1011Met was significantly associated with resistance to cypermethrin in the Crato population. Biochemical tests showed that only the activity of esterases and GSTs, among the tested detoxification enzymes, was altered in these populations when compared with the Rockefeller strain. Conclusions Our results demonstrate that two A. aegypti populations from Ceará are under strong selection pressure by temephos, compromising the field effectiveness of this organophosphate. Our results also provide evidence that the process of reducing resistance to this larvicide in the field is difficult and slow and may require more than seven years for reversal. In addition, we show resistance to cypermethrin in two of the three populations studied, and for the first time

  2. Socioeconomic and regional differences in active transportation in Brazil

    Science.gov (United States)

    de Sá, Thiago Hérick; Pereira, Rafael Henrique Moraes; Duran, Ana Clara; Monteiro, Carlos Augusto

    2016-01-01

    ABSTRACT OBJECTIVE To present national estimates regarding walking or cycling for commuting in Brazil and in 10 metropolitan regions. METHODS By using data from the Health section of 2008’s Pesquisa Nacional por Amostra de Domicílio (Brazil’s National Household Sample Survey), we estimated how often employed people walk or cycle to work, disaggregating our results by sex, age range, education level, household monthly income per capita, urban or rural address, metropolitan regions, and macro-regions in Brazil. Furthermore, we estimated the distribution of this same frequency according to quintiles of household monthly income per capita in each metropolitan region of the country. RESULTS A third of the employed men and women walk or cycle from home to work in Brazil. For both sexes, this share decreases as income and education levels rise, and it is higher among younger individuals, especially among those living in rural areas and in the Northeast region of the country. Depending on the metropolitan region, the practice of active transportation is two to five times more frequent among low-income individuals than among high-income individuals. CONCLUSIONS Walking or cycling to work in Brazil is most frequent among low-income individuals and the ones living in less economically developed areas. Active transportation evaluation in Brazil provides important information for public health and urban mobility policy-making PMID:27355465

  3. A review on human attitudes towards reptiles in Brazil.

    Science.gov (United States)

    Alves, Rômulo Romeu Nóbrega; Vieira, Kleber Silva; Santana, Gindomar Gomes; Vieira, Washington Luiz Silva; Almeida, Waltécio Oliveira; Souto, Wedson Medeiros Silva; Montenegro, Paulo Fernando Guedes Pereira; Pezzuti, Juarez Carlos Brito

    2012-11-01

    For many millennia humans and reptiles have interacted, but the attitude of humans towards these animals has depended on culture, environment, and personal experience. At least 719 reptile species are known to occur in Brazil and about 11% of this fauna has been exploited for many different purposes, including bushmeat, leather, ornamental and magic/religious uses, and as folk medicines. Brazil can therefore serve as an interesting case study for better understanding reptile use by human societies, and the present paper catalogues some of the reptile species being used in Brazil and discusses implications for their conservation. A literature review indicated that 81 reptile species are culturally important in this country, with 47 (58%) species having multiple uses, 54 being used for medicinal purposes, 38 as food, 28 for ornamental or decorative purposes, 20 used in magic/religious practices, 18 as pets, and 40 are commonly killed when they come into contact with humans. Regarding their conservation status, 30 (37.5%) are included on State's Red List, Brazilian Red List or the IUCN Red List. There are many forms of interaction between reptiles and humans in Brazil-although most of them are quite negative in terms of wildlife conservation-which reinforces the importance of understanding such uses and interactions in the context of protecting reptiles in Brazil. A better understanding of the cultural, social, and traditional roles of these reptiles is fundamental to establishing management plans for their sustainable use.

  4. Plecoptera from Minas Gerais State, southeastern Brazil.

    Science.gov (United States)

    Novaes, Marcos Carneiro; Bispo, Pitágoras Da Conceição

    2014-01-01

    Specimens of Plecoptera collected in Minas Gerais State, Brazil were studied. Twelve previously described species were identified, Anacroneuria boraceiensis Froehlich, 2004, A. debilis (Pictet, 1841), A. itatiaiensis Baldin et al., 2013, A. polita (Burmeister, 1839), A. singularis Righi-Cavallaro & Lecci, 2010, A. stanjewetti Froehlich, 2002, A. terere Righi-Cavallaro & Lecci, 2010, A. vanini Froehlich, 2004, Kempnyia neotropica (Jacobson and Bianchi, 1905), K. obtusa Klapálek, 1916, Tupiperla gracilis (Burmeister, 1839) and T. robusta Froehlich, 1998. Additionally, two new species of Anacroneuria are described, A. paprockii n. sp. and A. mineira n. sp., and a list of species from Minas Gerais State is presented. PMID:25284668

  5. Molecular epidemiology of dengue viruses in Brazil

    Directory of Open Access Journals (Sweden)

    Rita Maria Ribeiro Nogueira

    2000-01-01

    Full Text Available Dengue viruses (DEN are found as four antigenically distinct serotypes designated DEN-1, 2, 3, and 4. Laboratory evidence that strain-intratypical variation occurs among DEN viruses has been demonstrated since the 1970s, although only with the advances in molecular technologies has it been possible to determine the genetic variability of each serotype. Genotypical identification has proven to be a useful tool for determining the origin and spread of epidemics and to correlate virulence of strains. In this report we present the results of molecular epidemiological studies with the DEN-1 and DEN-2 viruses that caused dengue epidemics in Brazil during the last decade.

  6. Favourable environments for uranium occurences in Brazil

    International Nuclear Information System (INIS)

    Based on the present knowledge of Brazilian Precambrian geology, an attempt is made to divide Precambrian rocks into different regions according to their favourability criteria for uranium concentrations. Paleozoic and Mesozoic occurrences are also mentioned. They are mainly associated with large sedimentary basins. Brazilian uranium occurrences can be grouped into the following environments: (1) Metaconglomerates; (2) Metasomatic rocks (associated with albitization); (3) Vein type; (4) Sandstone type and (5) Intrusive alkalic rock. Upper Proterozoicas folding regions related to mobile belts and large Precambrian unconformities are good targets for uranium exploration in Brazil. (Author)

  7. Deleterious mutations and the evolution of sex.

    OpenAIRE

    de Visser

    1996-01-01

    In spite of decades of intense debate, the evolutionary reasons for sex are still unknown. In the light of the 'two-fold cost of sex' (Maynard Smith 1971; Williams 1975), a plausible short-term advantage to sex must be found to explain its maintenance. At present, two hypotheses seem to predominate (Crow 1994; Hurst and Peck 1996): the Parasite Hypothesis (e.g. Hamilton 1980), emphasising the selection pressure created by the presumed abundance of parasites, and the Deterministic Mutation Hyp...

  8. Genetic mutations in Gorlin-Goltz syndrome

    Directory of Open Access Journals (Sweden)

    Muthumula Daneswari

    2013-01-01

    Full Text Available Gorlin-Goltz syndrome is a rare multisystemic disease inherited in a dominant autosomal at a high level of penetrance and variable expressiveness. It is mainly characterized by basal cell carcinoma, odontogenic keratocyst and skeletal anomalies. Diagnosis is based upon established major and minor clinical and radiographic criteria and gene mutation analysis. This article presents a case of Gorlin-Goltz syndrome, its genetic predisposition, diagnosis and management.

  9. More about vanishing cycles and mutation

    OpenAIRE

    Seidel, Paul

    2000-01-01

    The paper continues the discussion of symplectic aspects of Picard-Lefschetz theory begun in "Vanishing cycles and mutation" (this archive). There we explained how to associate to a suitable fibration over a two-dimensional disc a triangulated category, the "derived directed Fukaya category" which describes the structure of the vanishing cycles. The present second part serves two purposes. Firstly, it contains various kinds of algebro-geometric examples, including the "mirror manifold" of the...

  10. Mutational meltdown in laboratory yeast populations

    NARCIS (Netherlands)

    Zeyl, C.; Mizesko, M.; Visser, de J.A.G.M.

    2001-01-01

    In small or repeatedly bottlenecked populations, mutations are expected to accumulate by genetic drift, causing fitness declines. In mutational meltdown models, such fitness declines further reduce population size, thus accelerating additional mutation accumulation and leading to extinction. Because

  11. First report of autochthonous transmission of Zika virus in Brazil.

    Science.gov (United States)

    Zanluca, Camila; Melo, Vanessa Campos Andrade de; Mosimann, Ana Luiza Pamplona; Santos, Glauco Igor Viana Dos; Santos, Claudia Nunes Duarte Dos; Luz, Kleber

    2015-06-01

    In the early 2015, several cases of patients presenting symptoms of mild fever, rash, conjunctivitis and arthralgia were reported in the northeastern Brazil. Although all patients lived in a dengue endemic area, molecular and serological diagnosis for dengue resulted negative. Chikungunya virus infection was also discarded. Subsequently, Zika virus (ZIKV) was detected by reverse transcription-polymerase chain reaction from the sera of eight patients and the result was confirmed by DNA sequencing. Phylogenetic analysis suggests that the ZIKV identified belongs to the Asian clade. This is the first report of ZIKV infection in Brazil.

  12. First report of autochthonous transmission of Zika virus in Brazil

    Directory of Open Access Journals (Sweden)

    Camila Zanluca

    2015-06-01

    Full Text Available In the early 2015, several cases of patients presenting symptoms of mild fever, rash, conjunctivitis and arthralgia were reported in the northeastern Brazil. Although all patients lived in a dengue endemic area, molecular and serological diagnosis for dengue resulted negative. Chikungunya virus infection was also discarded. Subsequently, Zika virus (ZIKV was detected by reverse transcription-polymerase chain reaction from the sera of eight patients and the result was confirmed by DNA sequencing. Phylogenetic analysis suggests that the ZIKV identified belongs to the Asian clade. This is the first report of ZIKV infection in Brazil.

  13. Microbiological food safety issues in Brazil: bacterial pathogens.

    Science.gov (United States)

    Gomes, Bruna Carrer; Franco, Bernadette Dora Gombossy de Melo; De Martinis, Elaine Cristina Pereira

    2013-03-01

    The globalization of food supply impacts patterns of foodborne disease outbreaks worldwide, and consumers are having increased concern about microbiological food safety. In this sense, the assessment of epidemiological data of foodborne diseases in different countries has not only local impact, but it can also be of general interest, especially in the case of major global producers and exporters of several agricultural food products, such as Brazil. In this review, the most common agents of foodborne illnesses registered in Brazil will be presented, compiled mainly from official databases made available to the public. In addition, some representative examples of studies on foodborne bacterial pathogens commonly found in Brazilian foods are provided. PMID:23489044

  14. Plant mutation breeding for crop improvement. V.1

    International Nuclear Information System (INIS)

    This volume contains the proceedings of the first two sessions of the FAO/IAEA Symposium on Plant Mutation Breeding for Crop Improvement, focussing on mutation breeding in particular countries and crop-specific mutation breeding. The individual contributions are indexed separately. Although a wide variety of topics is included, the emphasis is on the use of (mainly gamma) radiation to induce economically useful mutants in cereals and legumes. The results of many conventional plant breeding programs are also presented. Refs, figs and tabs

  15. [Mutations in the gene encoding filaggrin cause ichthyosis vulgaris].

    Science.gov (United States)

    Prasad, Sumangali Chandra; Rasmussen, Kirsten; Bygum, Anette

    2011-02-14

    Ichthyosis vulgaris is a common genetic skin disorder with an estimated prevalence of 1:250 caused by mutations in the gene encoding filaggrin. This disorder manifests itself within the first year of life and is clinically characterized by dry, scaly skin, keratosis pilaris, palmar hyperlinearity and atopic manifestations. Patients with a severe phenotype are homozygous or compound heterozygous for the mutations, whereas heterozygous patients show mild disease, suggesting semidominant inheritance with incomplete penetrance. We present a patient with classic severe ichthyosis vulgaris, atopic eczema and two loss-of-function mutations.

  16. Computer simulations of human interferon gamma mutated forms

    Science.gov (United States)

    Lilkova, E.; Litov, L.; Petkov, P.; Petkov, P.; Markov, S.; Ilieva, N.

    2010-01-01

    In the general framework of the computer-aided drug design, the method of molecular-dynamics simulations is applied for investigation of the human interferon-gamma (hIFN-γ) binding to its two known ligands (its extracellular receptor and the heparin-derived oligosaccharides). A study of 100 mutated hIFN-γ forms is presented, the mutations encompassing residues 86-88. The structural changes are investigated by comparing the lengths of the α-helices, in which these residues are included, in the native hIFN-γ molecule and in the mutated forms. The most intriguing cases are examined in detail.

  17. The cardiac phenotype in patients with a CHD7 mutation

    DEFF Research Database (Denmark)

    Corsten-Janssen, Nicole; Kerstjens-Frederikse, Wilhelmina S; du Marchie Sarvaas, Gideon J;

    2013-01-01

    Loss-of-function mutations in CHD7 cause Coloboma, Heart Disease, Atresia of Choanae, Retardation of Growth and/or Development, Genital Hypoplasia, and Ear Abnormalities With or Without Deafness (CHARGE) syndrome, a variable combination of multiple congenital malformations including heart defects....... Heart defects are reported in 70% to 92% of patients with a CHD7 mutation, but most studies are small and do not provide a detailed classification of the defects. We present the first, detailed, descriptive study on the cardiac phenotype of 299 patients with a CHD7 mutation and discuss the role of CHD7...... in cardiac development....

  18. Plant mutation breeding for crop improvement. V.2

    International Nuclear Information System (INIS)

    This volume contains the proceedings of the final two sessions of the FAO/IAEA Symposium on Plant Mutation Breeding for Crop Improvement, focussing on mutation breeding with particular objectives and the methodology of mutation breeding. The individual contributions are indexed separately. Although a wide variety of topics is included, the emphasis is on the use of (mainly gamma) radiation to induce economically useful mutants in cereals and legumes. The results of many conventional plant breeding programs are also presented. Refs, figs and tabs

  19. A cognitive chameleon: lessons from a novel MAPT mutation case.

    Science.gov (United States)

    Liang, Yuying; Gordon, Elizabeth; Rohrer, Jonathan; Downey, Laura; de Silva, Rohan; Jäger, Hans Rolf; Nicholas, Jennifer; Modat, Marc; Cardoso, M Jorge; Mahoney, Colin; Warren, Jason; Rossor, Martin; Fox, Nick; Caine, Diana

    2014-01-01

    We report a case of frontotemporal dementia caused by a novel MAPT mutation (Q351R) with a remarkably long amnestic presentation mimicking familial Alzheimer's disease. Longitudinal clinical, neuropsychological and imaging data provide convergent evidence for predominantly bilateral anterior medial temporal lobe involvement consistent with previously established neuroanatomical signatures of MAPT mutations. This case supports the notion that the neural network affected in MAPT mutations is determined to a large extent by the underlying molecular pathology. We discuss the diagnostic significance of anomia in the context of atypical amnesia and the impact of impaired episodic and semantic memory systems on autobiographical memory.

  20. Explaining social discrimination: racism in Brazil and xenophobia in Spain.

    Science.gov (United States)

    Camino, Leoncio; Álvaro, José Luis; Torres, Ana Raquel R; Garrido, Alicia; Morais, Thiago; Barbosa, Juliana

    2013-01-01

    The present study investigates the arguments used by university students in order to explain social differences between social minorities and majorities. In Brazil, the issues investigated refer to White and Black people. In Spain, the reference is to native Spaniards and Moroccan immigrants. The participants were 144 Brazilians and 93 Spaniards, who answered a questionnaire composed of socio-demographic variables and one open question about the causes of social inequalities between Black and White people in Brazil and between autochthonous Spaniards and Moroccan Immigrants. A model is proposed to integrate the four discursive classes found using ALCESTE software. In Brazil, the strongest argument is based on the historical roots of the exploitation of Black people. In Spain, cultural differences are the main explanation for social inequalities.

  1. Climatic factors influencing triatomine occurrence in Central-West Brazil

    Directory of Open Access Journals (Sweden)

    Joyce Mendes Pereira

    2013-05-01

    Full Text Available We estimated the geographic distributions of triatomine species in Central-West Region of Brazil (CW and analysed the climatic factors influencing their occurrence. A total of 3,396 records of 27 triatomine species were analysed. Using the maximum entropy method, ecological niche models were produced for eight species occurring in at least 20 municipalities based on 13 climatic variables and elevation. Triatoma sordida and Rhodnius neglectus were the species with the broadest geographic distributions in CW Brazil. The Cerrado areas in the state of Goiás were found to be more suitable for the occurrence of synanthropic triatomines than the Amazon forest areas in the northern part of the state of Mato Grosso. The variable that best explains the evaluated models is temperature seasonality. The results indicate that almost the entire region presents climatic conditions that are appropriate for at least one triatomine species. Therefore, it is recommended that entomological surveillance be reinforced in CW Brazil.

  2. [Generic drugs in Brazil: historical overview and legislation].

    Science.gov (United States)

    Araújo, Lorena Ulhôa; Albuquerque, Kemile Toledo de; Kato, Kelly Cristina; Silveira, Gleiciely Santos; Maciel, Náira Rezende; Spósito, Pollyanna Álvaro; Barcellos, Neila Márcia Silva; Souza, Jacqueline de; Bueno, Márcia; Storpirtis, Sílvia

    2010-12-01

    The Brazilian generic drugs policy was implemented in 1999 with the aim of stimulating competition in the market, improve the quality of drugs and improve the access of the population to drug treatment. The process of implementing this policy allowed the introduction and discussion of concepts that had never before been used in the context of drug registration in Brazil: bioavailability, bioequivalence, pharmaceutical equivalence, generic drugs, biopharmaceutical classification system, biowaiver. The present article provides definitions for these concepts in the context of Brazilian legislation as well as a historical and chronological description of the implementation of the generic drugs policy in Brazil, including a list of current generic drug legislation. This article contributes to the understanding of the Brazilian generic drugs policy and facilitates the search for information concerning the legal requirements for registration of drugs in Brazil.

  3. Explaining social discrimination: racism in Brazil and xenophobia in Spain.

    Science.gov (United States)

    Camino, Leoncio; Álvaro, José Luis; Torres, Ana Raquel R; Garrido, Alicia; Morais, Thiago; Barbosa, Juliana

    2013-01-01

    The present study investigates the arguments used by university students in order to explain social differences between social minorities and majorities. In Brazil, the issues investigated refer to White and Black people. In Spain, the reference is to native Spaniards and Moroccan immigrants. The participants were 144 Brazilians and 93 Spaniards, who answered a questionnaire composed of socio-demographic variables and one open question about the causes of social inequalities between Black and White people in Brazil and between autochthonous Spaniards and Moroccan Immigrants. A model is proposed to integrate the four discursive classes found using ALCESTE software. In Brazil, the strongest argument is based on the historical roots of the exploitation of Black people. In Spain, cultural differences are the main explanation for social inequalities. PMID:24230936

  4. IN SEARCH OF A TEACHING SOCIOLINGUISTIC PORTUGUESE LANGUAGE IN BRAZIL

    Directory of Open Access Journals (Sweden)

    Talita de Cássia Marine

    2016-06-01

    Full Text Available One of the barriers in teaching Portuguese as mother tongue is the treatment of linguistic variation and fundamentally grammatical knowledge permeated by different linguistic norms. So in this article, we propose some reflections on the current situation of the Portuguese language teaching in Brazil, presenting a literature review on the topic, especially about the concepts of belief and linguistic attitudes studies sociolinguistic and documents the Brazilian government. Still we gather some results of previous studies on language attitudes and beliefs and we quote three factors that show that the Portuguese-speaking education in Brazil is still far from a reflective teaching and culturally sensitive pedagogy. To prove such factors mentioned, we mentioned examples of speeches and activities of students of primary and secondary schools as well as letters of course students. Thus, in this article, we point out how it is still challenging to think of a sociolinguistic conception of Portuguese language teaching in Brazil.

  5. Ethanol fuels in Brazil

    International Nuclear Information System (INIS)

    The largest alternative transportation fuels program in the world today is Brazil's Proalcool Program. About 6.0 million metric tons of oil equivalent (MTOE) of ethanol, derived mainly from sugar cane, were consumed as transportation fuels in 1991 (equivalent to 127,000 barrels of crude oil per day). Total primary energy consumed by the Brazilian economy in 1991 was 184.1 million MTOE, and approximately 4.3 million vehicles -- about one third of the total vehicle fleet or about 40 percent of the total car population -- run on hydrous or open-quotes neatclose quotes ethanol at the azeotropic composition (96 percent ethanol, 4 percent water, by volume). Additional transportation fuels available in the country are diesel and gasoline, the latter of which is defined by three grades. Gasoline A (regular, leaded gas)d has virtually been replaced by gasoline C, a blend of gasoline and up to 22 percent anhydrous ethanol by volume, and gasoline B (premium gasoline) has been discontinued as a result of neat ethanol market penetration

  6. Policing violence in Brazil.

    Science.gov (United States)

    Sena, E

    1999-03-01

    This article is an excerpted summary of a speech on female police and domestic violence. The speech was given by a woman affiliated with the Association of Women Workers at an Oxfam workshop in northern Brazil. This organization successfully lobbied for female police, which resulted in more reports of domestic violence, especially rape. The organization is active in 13 counties. Female police are trained and usually given respect by police chiefs. In one city, in 1997, the appointment of female police resulted in registered reports of 387 cases of violence and hospital reports of 503 cases, of which 14% were child rape. During January-April 1998, there were 126 registered cases and 168 hospital cases. Policewomen formed a partnership over the past 2 years with the Human Rights Group and other popular political groups to train female police about laws. The compulsory course focused on four areas: legal concepts, penalties, and procedures on registration of complaints; the Brazilian Penal Code; civil law; and world judicial bureaucracies. Training includes a 1 month internship with the program's lawyer. Over 20 women have completed the course to date. Training in some cases resulted in greater expertise among the female police than their Police Chiefs. Female police have experienced harassment by local authorities. PMID:12295035

  7. Solar-UV-signature mutation prefers TCG to CCG: extrapolative consideration from UVA1-induced mutation spectra in mouse skin.

    Science.gov (United States)

    Ikehata, Hironobu; Kumagai, Jun; Ono, Tetsuya; Morita, Akimichi

    2013-08-01

    UVA1 exerts its genotoxicity on mammalian skin by producing cyclobutane pyrimidine dimers (CPDs) in DNA and preferentially inducing solar-UV-signature mutations, C → T base substitution mutations at methylated CpG-associated dipyrimidine (Py-mCpG) sites, as demonstrated previously using a 364 nm laser as a UVA1 source and lacZ-transgenic mice that utilize the transgene as a mutational reporter. In the present study, we confirmed that a broadband UVA1 source induced the same mutation profiles in mouse epidermis as the UVA1 laser, generalizing the previous result from a single 364 nm to a wider wavelength range of UVA1 (340-400 nm). Combined with our previous data on the mutation spectra induced in mouse epidermis by UVB, UVA2 and solar UVR, we proved that the solar-UV-signature mutation is commonly observed in the wavelength range from UVB to UVA, and found that UVA1 induces this mutation more preferentially than the other shorter wavelength ranges. This finding indicates that the solar-UV-signature mutation-causing CPDs, which are known to prefer Py-mCpG sites, could be produced with the energy provided by the longer wavelength region of UVR, suggesting a photochemical reaction through the excitation of pyrimidine bases to energy states that can be accomplished by absorption of even low-energy UVR. On the other hand, the lower proportions of solar-UV-signature mutations observed in the mutation spectra for UVB and solar UVR indicate that the direct photochemical reaction through excited singlet state of pyrimidine bases, which can be accomplished only by high-energy UVR, is also involved in the mutation induction at those shorter wavelengths of UVR. We also found that the solar-UV signature prefers 5'-TCG-3' to 5'-CCG-3' as mutational target sites, consistent with the fact that UVA induces CPDs selectively at thymine-containing dipyrimidine sites and that solar UVR induces them preferably at Py-mCpG sites. However, the mutation spectrum in human p53 gene from non

  8. Simultaneous mutation detection of three homoeologous genes in wheat by High Resolution Melting analysis and Mutation Surveyor®

    Directory of Open Access Journals (Sweden)

    Vincent Kate

    2009-12-01

    Full Text Available Abstract Background TILLING (Targeting Induced Local Lesions IN Genomes is a powerful tool for reverse genetics, combining traditional chemical mutagenesis with high-throughput PCR-based mutation detection to discover induced mutations that alter protein function. The most popular mutation detection method for TILLING is a mismatch cleavage assay using the endonuclease CelI. For this method, locus-specific PCR is essential. Most wheat genes are present as three similar sequences with high homology in exons and low homology in introns. Locus-specific primers can usually be designed in introns. However, it is sometimes difficult to design locus-specific PCR primers in a conserved region with high homology among the three homoeologous genes, or in a gene lacking introns, or if information on introns is not available. Here we describe a mutation detection method which combines High Resolution Melting (HRM analysis of mixed PCR amplicons containing three homoeologous gene fragments and sequence analysis using Mutation Surveyor® software, aimed at simultaneous detection of mutations in three homoeologous genes. Results We demonstrate that High Resolution Melting (HRM analysis can be used in mutation scans in mixed PCR amplicons containing three homoeologous gene fragments. Combining HRM scanning with sequence analysis using Mutation Surveyor® is sensitive enough to detect a single nucleotide mutation in the heterozygous state in a mixed PCR amplicon containing three homoeoloci. The method was tested and validated in an EMS (ethylmethane sulfonate-treated wheat TILLING population, screening mutations in the carboxyl terminal domain of the Starch Synthase II (SSII gene. Selected identified mutations of interest can be further analysed by cloning to confirm the mutation and determine the genomic origin of the mutation. Conclusion Polyploidy is common in plants. Conserved regions of a gene often represent functional domains and have high sequence

  9. Curriculum: The Contradictions in Theatre Education in Brazil

    Science.gov (United States)

    Pompeo Nogueira, Marcia; de Medeiros Pereira, Diego

    2016-01-01

    The history of arts education in Brazil is summarised, based on its contradictions. Some aspects of the Brazilian educational system and the National Curriculum Parameters are presented, in order to identify the predominant approach to theatre education. Three situations of the theatre education landscape in the state of Santa Catarina, southern…

  10. Science Teacher Education in Brazil: 1950-2000

    Science.gov (United States)

    Villani, Alberto; de Almeida Pacca, Jesuina Lopes; de Freitas, Denise

    2009-01-01

    This paper analyzes the most significant events occurring in Brazil's educational, social and political areas over the last half century, viewed against a background of relevant worldwide events. The hypothesis presented here is that the relations between the country's educational policies, the demands of the various segments of academia, and the…

  11. Brazil: Education in an Expanding Economy. Bulletin, 1959, No. 13

    Science.gov (United States)

    Faust, Augustus F.

    1959-01-01

    Studies on education in other countries have long been a responsibility of the Office of Education. This present study is another contribution in the series. It is based on background information acquired by the author during 4 visits totaling 3 years of residence in Brazil, with a 1957 visit to obtain current first-hand data. The purpose of the…

  12. Public Policy and Teacher Education in Brazil after 1990

    Science.gov (United States)

    Guimaraes, Selva

    2012-01-01

    The present research investigates public policy concerning teacher education in Brazil. It is a critical rereading of historical documents focusing on laws, legal documents, projects, institutional and public policies and teaching careers developed by the Brazilian state, as well as social and scientific organisations. Emphasis is given to current…

  13. Brazil Nut Effect and CONCRETE: Entering Terra Incognita

    NARCIS (Netherlands)

    Stroeven, P.; He, H.

    2012-01-01

    This paper presents some evidence of the impact of the Brazil nut effect (BNE) on concrete’s particulate structure on meso-level (aggregate) as well as on micro-level (cement paste). BNE is associated with long-range size segregation in particle mixtures due to vibration in slurry state of concrete,

  14. Energy efficiency and renewable energy systems in Portugal and Brazil

    DEFF Research Database (Denmark)

    Østergaard, Poul Alberg; Soares, Isabel; Ferreira, Paula

    2014-01-01

    This article presents a review of the energy situation in Brazil and Portugal; two countries which are both characterised by high utilisation of renewable energy sources though with differences between them. The article also introduces contemporary energy research conducted on the two countries a...

  15. The Evolution of Reforestation in Brazil

    OpenAIRE

    Bacha, Carlos

    2003-01-01

    This paper analyzes the evolution of reforestation in Brazil and makes an evaluation of federal government policies used to stimulate that activity. Despite the huge increase of reforestation areas in Brazil since the 1970s, what put up Brazil as the sixth large country with reforested areas, a scarcity of roundwood from reforested areas is happing in that country during the first decade of the 21st century. Federal government implemented three programs to foster the reforestation in Brazil d...

  16. Paragonimiasis: first case reported in Brazil

    Directory of Open Access Journals (Sweden)

    Antônio Carlos Moreira Lemos

    2007-02-01

    Full Text Available The authors present a case from a 59 years old white female Brazilian patient, based in Salvador-Bahia, Brazil's northeastern side area, who experienced irritative cough and progressive dyspnea, and, after 18 months, was admitted to a hospital with respiratory insufficiency. The physical exam showed diffuse rales in both hemithoraces. Initial leukogram showed 14,400 cells/mL with 14% of eosinophils and chest X-ray showed peribronchovascular infiltrate, predominating in the lower half of the lung fields, and small opaque nodules. The high-resolution computed tomography scan of the chest (HRCT presented compatible pattern with airways disease, especially from the small airways, with air trapping, tree sprouting images, central lobular nodules and bronchiectasis, making the results compatible with bronchiolitis and bronchiectasis. The transbroncho biopsy unveiled granulomatous lesion with necrosis, where was noticed a structure compatible to a parasitic case, and the research of the parasite eggs in the sputum was positive to paragonimus. After the praziquantel use, the patient presented a thick ferruginous expectoration and the result for BAAR examination was positive. The PCR exam and the sputum culture confirmed M. tuberculosis, and then the treatment for M. tuberculosis was initiated. The authors warn that this infection may have been a consequence of economics globalization process, where the importation of parasitized crustaceans might be the cause. However, there is the need of an accurate examination for the possibility of paragonimus specimens in this area of Brazil.

  17. Biomass energy potential in Brazil. Country study

    International Nuclear Information System (INIS)

    The present paper was prepared as a country study about the biomass potential for energy production in Brazil. Information and analysis of the most relevant biomass energy sources and their potential are presented in six chapters. Ethanol fuel, sugar-cane bagasse, charcoal, vegetable oil, firewood and other biomass-derived fuels are the objects of a historical review, in addition to the presentation of state-of-the-art technologies, economic analysis and discussion of relevant social and environmental issues related to their production and use. Wherever possible, an evaluation, from the available sources of information and based on the author's knowledge, is performed to access future perspectives of each biomass energy source. Brazil is a country where more than half of the energy consumed is provided from renewable sources of energy, and biomass provides 28% of the primary energy consumption. Its large extension, almost all located in the tropical and rainy region, provides an excellent site for large-scale biomass production, which is a necessity if biomass is to be used to supply a significant part of future energy demand. Even so, deforestation has occurred and is occurring in the country, and the issue is discussed and explained as mainly the result of non-energy causes or the use of old and outdated technologies for energy production. (author)

  18. Minisequencing mitochondrial DNA pathogenic mutations

    Directory of Open Access Journals (Sweden)

    Carracedo Ángel

    2008-04-01

    Full Text Available Abstract Background There are a number of well-known mutations responsible of common mitochondrial DNA (mtDNA diseases. In order to overcome technical problems related to the analysis of complete mtDNA genomes, a variety of different techniques have been proposed that allow the screening of coding region pathogenic mutations. Methods We here propose a minisequencing assay for the analysis of mtDNA mutations. In a single reaction, we interrogate a total of 25 pathogenic mutations distributed all around the whole mtDNA genome in a sample of patients suspected for mtDNA disease. Results We have detected 11 causal homoplasmic mutations in patients suspected for Leber disease, which were further confirmed by standard automatic sequencing. Mutations m.11778G>A and m.14484T>C occur at higher frequency than expected by change in the Galician (northwest Spain patients carrying haplogroup J lineages (Fisher's Exact test, P-value Conclusion We here developed a minisequencing genotyping method for the screening of the most common pathogenic mtDNA mutations which is simple, fast, and low-cost. The technique is robust and reproducible and can easily be implemented in standard clinical laboratories.

  19. A novel PTEN gene promoter mutation and untypical Cowden syndrome

    Institute of Scientific and Technical Information of China (English)

    Chen Liu; Guangbing Li; Rongrong Chen; Xiaobo Yang; Xue Zhao; Haitao Zhao

    2013-01-01

    Cowden syndrome (CS),an autosomal dominant disorder,is one of a spectrum of clinical disorders that have been linked to germline mutations in the phosphatase and tensin homolog (PTEN) gene.Although 70-80% of patients with CS have an identifiable germline PTEN mutation,the clinical diagnosis presents many challenges because of the phenotypic and genotypic variations.In the present study,we sequenced the exons and the promoter of PTEN gene,mutations and variations in the promoter and exons were identified,and a PTEN protein expression negative region was determined by immunohistochemistry (IHC).In conclusion,a novel promoter mutation we found in PTEN gene may turn off PTEN protein expression occasionally,leading to the disorder of PTEN and untypical CS manifestations.

  20. Inheritance of a new albino mutation in Brazilian free-range black chickens

    Directory of Open Access Journals (Sweden)

    W Jorge

    2008-09-01

    Full Text Available A genetically recessive albino mutation, which inhibits pigment development in the eyes, skin, and feathers of domestic chickens from Brazil, is described. This mutation appeared in a flock of completely black chickens of a private breeder. There are no information on the origin, breed, or specific line of the birds. Pigment inhibition is apparently complete in the feathers and eyes. Bird sight is very impaired, but no histological examination was carried out. Ratios obtained in F2 and backcrossed birds indicate that a single autosomal recessive gene is responsible for the condition. The data suggest that the absence of melanin in the eyes, skin, and feathers (symbol cc is a mutation of the pigmented C wild gene.

  1. EG-08IDH MUTATIONS IN GLIOMAS ASSOCIATED WITH ENCHONDROMATOSIS

    Science.gov (United States)

    Nicholas, M. Kelly; Joseph, Loren; Venneti, Sriram; Daher, Ahmad; Pytel, Peter

    2014-01-01

    The enchondromatoses, Ollier's disease and Maffucci syndrome, are non-heritable developmental disorders characterized by multiple enchondromas (Olllier's) in association with hemangiomas (Maffucci). Glial neoplasms are reported in both disorders but a pathogenic mechanism underlying this association has not been identified. We report a case of anaplastic astrocytoma in a 23 year old man with Maffucci syndrome whose tumor carried a substitution mutation of arginine for cysteine at position 132 (R132C) of the isocitrate dehydrogenase 1 (IDH1) protein. This mutation, commonly found in Maffucci-associated enchondromas and hemangiomas, was not detected on routine immunohistochemical (IHC) analysis of the astrocytoma using the R132H mutation-specific antibody, commonly applied in clinical laboratories. The R132C mutation was detected by polymerase chain reaction (PCR) and subsequently confirmed using a SNaPshot assay. Because somatic mosaic IDH mutations are associated with enchondromas and hemangiomas in Maffucci syndrome, we looked for the R132C mutation in a hemangioma, peripheral blood mononuclear cells (PBMNC) and histologically normal brain surrounding the tumor from this patient. The mutation was present in the hemangioma, absent in PBMNC, and present in 2% of alleles in ‘normal’ brain. The low level in surrounding brain tissue is consistent with tumor cell infiltration, not mosaicism, as a S173T p53 mutation in the tumor showed similar results. Using IHC, we further demonstrated that the mutant IDH1 protein in this glioma functions as an oncometabolite. Two repressive histone trimethylation marks were strongly positive in the tumor, supporting a role for 2-hydroxyglutarate in the inhibition of histone demethylation. Together, these data demonstrate that an IDH1 mutation common in enchodromatoses underlies the association of glial tumors reported in both Ollier's disease and Maffucci syndrome.

  2. The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.

    OpenAIRE

    McDowell, G A; Mules, E H; Fabacher, P; Shapira, E.; Blitzer, M G

    1992-01-01

    A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations. Eleven of 12 infantile TSD alleles examined in six families had the beta-hexosaminidase A (Hex A) alpha-subunit exon 11 insertion mutation that is present in approximately 70% of Ashkenazi Jewish TSD heterozygotes. The mutation in the remaining allele was a single-base transition in the donor splice site of ...

  3. Brazil: Mitigation and Adaptation to Climate Change

    OpenAIRE

    Carlos E. Ludeña; Maria Netto

    2011-01-01

    In order to understand the implications of GHG emissions reduction targets in the Brazilian economy it is important to understand the sector composition of these emissions in Brazil. According to the 2010 Second National Communications of Brazil to the UNFCCC, in 2005, the majority of Brazil's emissions (87.2%) corresponded to carbon dioxide (CO2) emissions.

  4. OUT Success Stories: Rural Electrification in Brazil

    International Nuclear Information System (INIS)

    The United States and Brazil are collaborating to bring electricity to some 5 million households in rural Brazil. Over the next decade, there is a potential to install approximately 500 megawatts (MW) of solar home systems and 1000 MW of community systems, bringing light to households, schools, and health clinics throughout rural Brazil

  5. Radiation mutation breeding

    International Nuclear Information System (INIS)

    In order to develop an advanced technical knowledge for the selection of better mutants, some of the crops were irradiated and the mutation rate, the survival rate and the method for selction of a mutant were studied. Furthermore, this study aimed to obtain basic data applicable to the development of genetic resources by evaluation and analysis the specific character for selection of the superior mutant and its plant breeding. 1. selection of the mutant with a superior resistance against environment in the principal crops 1) New varieties of mutant rices such as Wonpyeongbyeo, Wongwangbyeo, Winmibyeo, and heogseon chalbeyeo (sticky forma) were registered in the national variety list and made an application to crop variety protection right. They are under review now. 2) We also keep on studying on the number of a grain of 8 lines of excellent mutant rice for the purpose of improvement of breeding . 3) We selected 3 lines which have a resistance to pod and stem blight in large soybean, 31 lines with small grain size and higher yield, 112 lines of soybean of cooking, 7 lines of low lipoxygenase content, and 12 lines with decreased phytic acid content by 20 % compared to the previous level. 2. Selection of advanced Mugunwha (Rose of Sharon) mutant 1) Bagseul, a new variety of mutant, was developed and 30 plantlets of it are being proliferated. 2) Fifty-three lines of a mutant having a various morphologies were selected

  6. Radiation mutation breeding

    Energy Technology Data Exchange (ETDEWEB)

    Song, Hi Sup; Kim, Jae Sung; Kim, Jin Kyu; Shin, In Chul; Lim, Young Taek

    1998-04-01

    In order to develop an advanced technical knowledge for the selection of better mutants, some of the crops were irradiated and the mutation rate, the survival rate and the method for selction of a mutant were studied. Furthermore, this study aimed to obtain basic data applicable to the development of genetic resources by evaluation and analysis the specific character for selection of the superior mutant and its plant breeding. 1. selection of the mutant with a superior resistance against environment in the principal crops 1) New varieties of mutant rices such as Wonpyeongbyeo, Wongwangbyeo, Winmibyeo, and heogseon chalbeyeo (sticky forma) were registered in the national variety list and made an application to crop variety protection right. They are under review now. 2) We also keep on studying on the number of a grain of 8 lines of excellent mutant rice for the purpose of improvement of breeding . 3) We selected 3 lines which have a resistance to pod and stem blight in large soybean, 31 lines with small grain size and higher yield, 112 lines of soybean of cooking, 7 lines of low lipoxygenase content, and 12 lines with decreased phytic acid content by 20 % compared to the previous level. 2. Selection of advanced Mugunwha (Rose of Sharon) mutant 1) Bagseul, a new variety of mutant, was developed and 30 plantlets of it are being proliferated. 2) Fifty-three lines of a mutant having a various morphologies were selected.

  7. Distintas formas de presentación clínica de un raquitismo hipofosfatémico autosómico dominante por mutación del factor de crecimiento fibroblástico 23 en una familia Different forms of clinical presentation of an autosomal dominant hypophosphatemic rickets caused by a FGF 23 mutation in one family

    Directory of Open Access Journals (Sweden)

    Armando Luis Negri

    2004-04-01

    1: a 60 year old female who consulted for bone pain. Bone densitometry showed osteoporosis. Laboratory assays showed hypophosphatemia with low renal phosphate threshold, high total alkaline phosphatase, normal intact PTH and normal serum calcium. With neutral phosphate and calcitriol, the biochemical parameters normalized and bone densitometry improved significantly in less than a year. Patient N° 2: her grand daughter consulted at 1 year and 8 months of age for growth retardation (height at percentile 3 and genu varum. Laboratory assays showed low serum phosphate and high total alkaline phosphatase; thickening and irregular epiphyseal borders of the wrists were observed radiologically. She began treatment with calcitriol and phosphorus with normalization of laboratory parameters and increase in growth (height increasing to percentile 50 after 20 months of therapy. Patient N° 3: mother of patient N° 2, she had no clinical manifestations and normal densitometry but presented low serum phosphate (1.9 mg/dl that normalized with neutral phosphate therapy. Patient N° 4: he was the youngest son of Patient N° 1, who had had hypophosphatemic rickets, by age 5; his serum phosphate normalized without treatment. At age 29, he presented normal serum phosphate and bone densitometry. Genomic DNA analysis performed in patient N° 3, showed missense mutation with substitution of arginine at position 179 for glutamine. The family was catalogued as having autosomal dominant hypophosphatemic rickets/osteomalacia.

  8. Mutation breeding by ion implantation

    Science.gov (United States)

    Yu, Zengliang; Deng, Jianguo; He, Jianjun; Huo, Yuping; Wu, Yuejin; Wang, Xuedong; Lui, Guifu

    1991-07-01

    Ion implantation as a new mutagenic method has been used in the rice breeding program since 1986, and for mutation breeding of other crops later. It has been shown, in principle and in practice, that this method has many outstanding advantages: lower damage rate; higher mutation rate and wider mutational spectrum. Many new lines of rice with higher yield rate; broader disease resistance; shorter growing period but higher quality have been bred from ion beam induced mutants. Some of these lines have been utilized for the intersubspecies hybridization. Several new lines of cotton, wheat and other crops are now in breeding. Some biophysical effects of ion implantation for crop seeds have been studied.

  9. Induction of mutations in wheat

    International Nuclear Information System (INIS)

    Studies on toxicity of various mutagenic factors including gamma radiation, X-rays and fast neutrons and their optimal doses for valuble mutation breeding of bread winter, spring and durum wheat have been carried out. Data on sublethal doses of mutagens and chromosome aberration frequency for different doses of mutagens have been collected. It is observed that the greater general frequency of visible mutations by a mutagen does not ensure the greater relative yield of valuable mutations. In the course of the investigations, about 90 valuable mutant forms and mutant hybrids are selected for further breeding studies. (M.G.B.)

  10. Mutations induced by ultraviolet light

    Energy Technology Data Exchange (ETDEWEB)

    Pfeifer, Gerd P. [Department of Biology, Beckman Research Institute, City of Hope, Duarte, CA 91010 (United States)]. E-mail: gpfeifer@coh.org; You, Young-Hyun [Department of Biology, Beckman Research Institute, City of Hope, Duarte, CA 91010 (United States); Besaratinia, Ahmad [Department of Biology, Beckman Research Institute, City of Hope, Duarte, CA 91010 (United States)

    2005-04-01

    The different ultraviolet (UV) wavelength components, UVA (320-400 nm), UVB (280-320 nm), and UVC (200-280 nm), have distinct mutagenic properties. A hallmark of UVC and UVB mutagenesis is the high frequency of transition mutations at dipyrimidine sequences containing cytosine. In human skin cancers, about 35% of all mutations in the p53 gene are transitions at dipyrimidines within the sequence 5'-TCG and 5'-CCG, and these are localized at several mutational hotspots. Since 5'-CG sequences are methylated along the p53 coding sequence in human cells, these mutations may be derived from sunlight-induced pyrimidine dimers forming at sequences that contain 5-methylcytosine. Cyclobutane pyrimidine dimers (CPDs) form preferentially at dipyrimidines containing 5-methylcytosine when cells are irradiated with UVB or sunlight. In order to define the contribution of 5-methylcytosine to sunlight-induced mutations, the lacI and cII transgenes in mouse fibroblasts were used as mutational targets. After 254 nm UVC irradiation, only 6-9% of the base substitutions were at dipyrimidines containing 5-methylcytosine. However, 24-32% of the solar light-induced mutations were at dipyrimidines that contain 5-methylcytosine and most of these mutations were transitions. Thus, CPDs forming preferentially at dipyrimidines with 5-methylcytosine are responsible for a considerable fraction of the mutations induced by sunlight in mammalian cells. Using mouse cell lines harboring photoproduct-specific photolyases and mutational reporter genes, we showed that CPDs (rather than 6-4 photoproducts or other lesions) are responsible for the great majority of UVB-induced mutations. An important component of UVB mutagenesis is the deamination of cytosine and 5-methylcytosine within CPDs. The mutational specificity of long-wave UVA (340-400 nm) is distinct from that of the shorter wavelength UV and is characterized mainly by G to T transversions presumably arising through mechanisms

  11. TERT promoter mutations in skin cancer: the effects of sun exposure and X-irradiation.

    Science.gov (United States)

    Pópulo, Helena; Boaventura, Paula; Vinagre, João; Batista, Rui; Mendes, Adélia; Caldas, Regina; Pardal, Joana; Azevedo, Filomena; Honavar, Mrinalini; Guimarães, Isabel; Manuel Lopes, José; Sobrinho-Simões, Manuel; Soares, Paula

    2014-08-01

    The reactivation or reexpression of telomerase (TERT) is a widespread feature of neoplasms. TERT promoter mutations were recently reported that were hypothesized to result from UV radiation. In this retrospective study, we assessed TERT promoter mutations in 196 cutaneous basal cell carcinomas (BCCs), including 102 tumors from X-irradiated patients, 94 tumors from patients never exposed to ionizing radiation treatment, and 116 melanomas. We sought to evaluate the effects of UV and X-ray irradiation on TERT mutation frequency. TERT mutations were detected in 27% of BCCs from X-irradiated patients, 51% of BCCs from nonirradiated patients, and 22% of melanoma patients. TERT mutations were significantly increased in non-X-irradiated BCC patients compared with X-irradiated BCC patients; the mutations also presented a different mutation signature. In nonirradiated patients, TERT mutations were more frequent in BCCs of sun-exposed skin, supporting a possible causative role of UV radiation. In melanoma, TERT promoter mutations were generally restricted to intermittent sun-exposed areas and were associated with nodular and superficial spreading subtypes, increased thickness, ulceration, increased mitotic rate, and BRAFV600E mutations. Our results suggest that various carcinogenic factors may cause distinct TERT promoter mutations in BCC and that TERT promoter mutations might be associated with a poorer prognosis in melanoma. PMID:24691053

  12. Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations.

    Science.gov (United States)

    Kono, M; Nomura, T; Ohguchi, Y; Mizuno, O; Suzuki, S; Tsujiuchi, H; Hamajima, N; McLean, W H I; Shimizu, H; Akiyama, M

    2014-04-01

    Mutations in FLG coding profilaggrin cause ichthyosis vulgaris and are an important predisposing factor for atopic dermatitis. Until now, most case-control studies and population-based screenings have been performed only for prevalent mutations. In this study, we established a high-throughput FLG mutation detection system by real-time PCR with a set of two double-dye probes and conducted comprehensive screening for almost all of the Japanese-population-specific FLG mutations (ten FLG mutations). The present comprehensive screening for all ten FLG mutations provided a more precise prevalence rate for FLG mutations (11.1%, n = 820), which seemed high compared with data of previous reports based on screening for limited numbers of FLG mutations. Our comprehensive screening suggested that population-specific FLG mutations may be a significant predisposing factor for hay fever (odds ratio = 2.01 [95% CI: 1.027-3.936, P < 0.05]), although the sample sizes of this study were too small for reliable subphenotype analysis on the association between FLG mutations and hay fever in the eczema patients and the noneczema individuals, and it is not clear whether the association between FLG mutations and hay fever is due to the close association between FLG mutations and hay fever patients with eczema.

  13. Telomerase reverse transcriptase promoter mutations in hepatitis B virus-associated hepatocellular carcinoma

    Science.gov (United States)

    Yang, Xunjun; Guo, Xiuchan; Chen, Yao; Chen, Guorong; Ma, Yin; Huang, Kate; Zhang, Yuning; Zhao, Qiongya; Winkler, Cheryl A.; An, Ping; Lyu, Jianxin

    2016-01-01

    Telomerase reverse transcriptase (TERT) promoter mutations are among the most frequent noncoding somatic mutations in multiple cancers, including hepatocellular carcinoma (HCC). The clinical and pathological implications of TERT promoter mutations in hepatitis B virus (HBV)-associated HCC have not been resolved. To investigate TERT promoter mutations, protein expression, and their clinical-pathological implications, we sequenced the TERT promoter region for hotspot mutations in HCC tissues and performed immunostaining for TERT protein expression from HBV-associated HCC in Chinese patients. Of 276 HCC tumor DNA samples sequenced, 85 (31%) carried TERT promoter mutations. TERT promoter mutations were more frequent in those with low α-fetoprotein (AFP) serum levels (p = 0.03), advanced age (p = 0.04), and in those lacking HCC family history (p = 0.02), but were not correlated with HCC stages and grades. TERT protein levels were higher in HCC (n = 28) compared to normal liver tissues (n = 8) (p =0.001), but did not differ between mutated and non-mutated tumor tissues. In conclusion, TERT promoter mutations are common somatic mutations in HCC of Han Chinese with HBV infection. Detection of TERT promoter mutations in those with low levels of AFP may aid diagnosis of HCC with atypical presentation. PMID:27056898

  14. Economic and agricultural impact of mutation breeding in fruit trees

    International Nuclear Information System (INIS)

    Constraints of conventional cross breeding in fruit trees, wide market acceptance of definite cultivars, especially in apple, pear, citrus and wine grape, and the increased impact of natural mutants provide incentives for mutation breeding. Only few induced mutants in fruit trees have been commercialized and are being planted on a large scale. The main method followed in mutation breeding of tree fruit has been acute irradiation of meristematic multicellular buds but, Chimera formation and reversion present a serious problem. 87 refs, 4 tabs

  15. New species of Aphaereta Foerster, 1862 (Hymenoptera: Braconidae: Alysiinae) from Brazil

    OpenAIRE

    Arouca, R.G.; Gomes, S.A.G.; Yamada, M.V.; Penteado-Dias, A.M.

    2009-01-01

    Aphaereta atlantica spec. nov. has been described from material collected at the Atlantic forest in Brazil. The species was present during both the dry and rainy seasons. The male and female are described and illustrated.

  16. Power engineering education in Brazil; Repensando o ensino da engenharia de potencia no Brasil

    Energy Technology Data Exchange (ETDEWEB)

    Coutto Filho, M.B. do; Silva, A.M. Leite da [Pontificia Univ. Catolica do Rio de Janeiro, RJ (Brazil). Dept. de Engenharia Eletrica

    1994-12-31

    This work presents elements to the reflection about power engineering education in Brazil, taking into account transformations such as, improve technology, new paradigms of professional behavior and economic recession. (author) 13 refs.

  17. Strategic management at IPEN - Institute of Nuclear and Energetic Research, S P, Brazil

    International Nuclear Information System (INIS)

    This panel presents an overview on the strategic management of the IPEN, S P, Brazil, with emphasis on the history, the main installations, the nature of the activities and training activities of the institute

  18. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

    Science.gov (United States)

    Huang, Lijia; Vanstone, Megan R; Hartley, Taila; Osmond, Matthew; Barrowman, Nick; Allanson, Judith; Baker, Laura; Dabir, Tabib A; Dipple, Katrina M; Dobyns, William B; Estrella, Jane; Faghfoury, Hanna; Favaro, Francine P; Goel, Himanshu; Gregersen, Pernille A; Gripp, Karen W; Grix, Art; Guion-Almeida, Maria-Leine; Harr, Margaret H; Hudson, Cindy; Hunter, Alasdair G W; Johnson, John; Joss, Shelagh K; Kimball, Amy; Kini, Usha; Kline, Antonie D; Lauzon, Julie; Lildballe, Dorte L; López-González, Vanesa; Martinezmoles, Johanna; Meldrum, Cliff; Mirzaa, Ghayda M; Morel, Chantal F; Morton, Jenny E V; Pyle, Louise C; Quintero-Rivera, Fabiola; Richer, Julie; Scheuerle, Angela E; Schönewolf-Greulich, Bitten; Shears, Deborah J; Silver, Josh; Smith, Amanda C; Temple, I Karen; van de Kamp, Jiddeke M; van Dijk, Fleur S; Vandersteen, Anthony M; White, Sue M; Zackai, Elaine H; Zou, Ruobing; Bulman, Dennis E; Boycott, Kym M; Lines, Matthew A

    2016-02-01

    Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia. Haploinsufficiency of a spliceosomal GTPase, U5-116 kDa/EFTUD2, is responsible. Here, we review the molecular basis of MFDM in the 69 individuals described to date, and report mutations in 38 new individuals, bringing the total number of reported individuals to 107 individuals from 94 kindreds. Pathogenic EFTUD2 variants comprise 76 distinct mutations and seven microdeletions. Among point mutations, missense substitutions are infrequent (14 out of 76; 18%) relative to stop-gain (29 out of 76; 38%), and splicing (33 out of 76; 43%) mutations. Where known, mutation origin was de novo in 48 out of 64 individuals (75%), dominantly inherited in 12 out of 64 (19%), and due to proven germline mosaicism in four out of 64 (6%). Highly penetrant clinical features include, microcephaly, first and second arch craniofacial malformations, and hearing loss; esophageal atresia is present in an estimated ∼27%. Microcephaly is virtually universal in childhood, with some adults exhibiting late "catch-up" growth and normocephaly at maturity. Occasionally reported anomalies, include vestibular and ossicular malformations, reduced mouth opening, atrophy of cerebral white matter, structural brain malformations, and epibulbar dermoid. All reported EFTUD2 mutations can be found in the EFTUD2 mutation database (http://databases.lovd.nl/shared/genes/EFTUD2). PMID:26507355

  19. Mass genetics study of rhodopsin point mutations in retinitis pigmentosa

    Institute of Scientific and Technical Information of China (English)

    ZHANG Xiao-li; YIN Zheng-qin; ZHANG Xue; FU Wei-ling

    2004-01-01

    Objective: To evaluate the incidence and pattern of rhodopsin (RHO) mutations in Chinese patients with retinitis pigmentosa (RP). Methods: Conformation sensitive gel electrophoresis (CSGE) and direct DNA sequencing were applied to detect point mutations that occurred in the five coding exous and splice sites of RHO gene in 98 index patients with RP. Results: Four patients of one ADRP family were found to have a missense mutation at codon 347, Pro347Leu. One late-onset RP patient and her daughter, without clinical expression at present, were discovered to have a novel frameshift mutation at codon 327, Pro327 ( 1-bp del). Neither of the two mutations was found in 100 normal controls. Ala299Ser was found in one RP patient. Two control subjects also had Ala299Ser, suggesting its nonpathogenicity and just single nucleotide polymorphism (SNP). Conclusion: Two RP patients had rhodopsin mutations, thus the expected frequency of RHO mutations in RP is about 2.0% (95% confidence interval: 0.3% - 4.4% ). A highly conserved C-terminal sequence QVS (A)PA was altered due to Pro347Leu and thereby misdirecting rhodopsin to incorrect subcellular location. Loss of all phosphorylation sites at the C-terminus and a highly conserved sequence QVS(A)PA may occur because of Pro327( 1-bp del). To elucidate the predominant biochemical defects in such mutant, transgenic mice and transfected culture cells carrying Pro327( 1-bp del) would be of great value.

  20. DRUMS: a human disease related unique gene mutation search engine.

    Science.gov (United States)

    Li, Zuofeng; Liu, Xingnan; Wen, Jingran; Xu, Ye; Zhao, Xin; Li, Xuan; Liu, Lei; Zhang, Xiaoyan

    2011-10-01

    With the completion of the human genome project and the development of new methods for gene variant detection, the integration of mutation data and its phenotypic consequences has become more important than ever. Among all available resources, locus-specific databases (LSDBs) curate one or more specific genes' mutation data along with high-quality phenotypes. Although some genotype-phenotype data from LSDB have been integrated into central databases little effort has been made to integrate all these data by a search engine approach. In this work, we have developed disease related unique gene mutation search engine (DRUMS), a search engine for human disease related unique gene mutation as a convenient tool for biologists or physicians to retrieve gene variant and related phenotype information. Gene variant and phenotype information were stored in a gene-centred relational database. Moreover, the relationships between mutations and diseases were indexed by the uniform resource identifier from LSDB, or another central database. By querying DRUMS, users can access the most popular mutation databases under one interface. DRUMS could be treated as a domain specific search engine. By using web crawling, indexing, and searching technologies, it provides a competitively efficient interface for searching and retrieving mutation data and their relationships to diseases. The present system is freely accessible at http://www.scbit.org/glif/new/drums/index.html. PMID:21913285

  1. P16 UV mutations in human skin epithelial tumors.

    Science.gov (United States)

    Soufir, N; Molès, J P; Vilmer, C; Moch, C; Verola, O; Rivet, J; Tesniere, A; Dubertret, L; Basset-Seguin, N

    1999-09-23

    The p16 gene expresses two alternative transcripts (p16alpha and p16beta) involved in tumor suppression via the retinoblastoma (Rb) or p53 pathways. Disruption of these pathways can occur through inactivation of p16 or p53, or activating mutations of cyclin dependant kinase 4 gene (Cdk4). We searched for p16, Cdk4 and p53 gene mutations in 20 squamous cell carcinomas (SSCs), 1 actinic keratosis (AK), and 28 basal cell carcinomas (BCCs), using PCR-SSCP. A deletion and methylation analysis of p16 was also performed. Six different mutations (12%) were detected in exon 2 of p16 (common to p16alpha and p16beta), in five out of 21 squamous lesions (24%) (one AK and four SCCs) and one out of 28 BCCs (3.5%). These included four (66%) ultraviolet (UV)-type mutations (two tandems CC : GG to TT : AA transitions and two C : G to T : A transitions at dipyrimidic site) and two transversions. P53 mutations were present in 18 samples (37%), mostly of UV type. Of these, only two (one BCC and one AK) harboured simultaneously mutations of p16, but with no consequence on p16beta transcript. Our data demonstrate for the first time the presence of p16 UV induced mutations in non melanoma skin cancer, particularly in the most aggressive SCC type, and support that p16 and p53 are involved in two independent pathways in skin carcinogenesis.

  2. ENU-induced phenovariance in mice: inferences from 587 mutations

    Directory of Open Access Journals (Sweden)

    Arnold Carrie N

    2012-10-01

    Full Text Available Abstract Background We present a compendium of N-ethyl-N-nitrosourea (ENU-induced mouse mutations, identified in our laboratory over a period of 10 years either on the basis of phenotype or whole genome and/or whole exome sequencing, and archived in the Mutagenetix database. Our purpose is threefold: 1 to formally describe many point mutations, including those that were not previously disclosed in peer-reviewed publications; 2 to assess the characteristics of these mutations; and 3 to estimate the likelihood that a missense mutation induced by ENU will create a detectable phenotype. Findings In the context of an ENU mutagenesis program for C57BL/6J mice, a total of 185 phenotypes were tracked to mutations in 129 genes. In addition, 402 incidental mutations were identified and predicted to affect 390 genes. As previously reported, ENU shows strand asymmetry in its induction of mutations, particularly favoring T to A rather than A to T in the sense strand of coding regions and splice junctions. Some amino acid substitutions are far more likely to be damaging than others, and some are far more likely to be observed. Indeed, from among a total of 494 non-synonymous coding mutations, ENU was observed to create only 114 of the 182 possible amino acid substitutions that single base changes can achieve. Based on differences in overt null allele frequencies observed in phenotypic vs. non-phenotypic mutation sets, we infer that ENU-induced missense mutations create detectable phenotype only about 1 in 4.7 times. While the remaining mutations may not be functionally neutral, they are, on average, beneath the limits of detection of the phenotypic assays we applied. Conclusions Collectively, these mutations add to our understanding of the chemical specificity of ENU, the types of amino acid substitutions it creates, and its efficiency in causing phenovariance. Our data support the validity of computational algorithms for the prediction of damage caused by

  3. MPL W515L/K Mutations in Chronic Myeloproliferative Neoplasms

    Directory of Open Access Journals (Sweden)

    Timur Selçuk Akpınar

    2013-03-01

    Full Text Available OBJECTIVE: The MPL gene encodes the thrombopoietin receptor. Recently MPL mutations (MPL W515L or MPL W515K were described in patients with essential thrombocythemia (ET and primary (idiopathic myelofibrosis (PMF. The prevalence and the clinical importance of these mutations are not clear. In the present study, we aimed to investigate the frequency and clinical significance of MPL W515L/K mutations in our patients with ET and PMF. METHODS: A total of 77 patients (66 were diagnosed with ET and 11 with PMF and 42 healthy controls were included in the study. Using peripheral blood samples, the presence of MPL W515L/K mutations and JAK-2 V617F mutation were analyzed by real-time polymerase chain reaction. RESULTS: In our study, MPL W515L/K or JAK-2 V617F mutations were not observed in healthy controls. JAK-2 V617F mutation was present in 35 patients, of whom 29 had ET (43.9%, 29/66 and 6 had PMF (54.5%, 6/11. In the patient group, MPL W515L/K mutations were found in only 2 PMF cases, and these cases were negative for JAK-2 V617F mutation. The prevalence of MPL W515L/K mutations in the patient group was 2.6%, and the prevalence of MPL W515L/K mutations among the cases negative for the JAK-2 V617F mutation was found to be 4.8%. The 2 cases with MPL W515L/K mutations had long follow-up times (124 months and 71 months, respectively, had no thrombotic or hemorrhagic complications, and had no additional cytogenetic anomalies. CONCLUSION: MPL W515L/K mutations may be helpful for identifying clonal disease in MPN patients with no established Ph chromosome or JAK-2 V617F mutation.

  4. Neurofibromatosis presenting with a cherubism phenotype.

    NARCIS (Netherlands)

    Capelle, C.I. van; Hogeman, P.H.; Sijs-Bos, C.J.M. van der; Heggelman, B.G.; Idowu, B.; Slootweg, P.J.; Wittkampf, A.R.M.; Flanagan, A.M.

    2007-01-01

    We report on a child who presented clinical manifestations of both neurofibromatosis type 1 (NF1) and cherubism. With genetic testing, we found a mutation in the NF-1 gene, confirming the neurocutaneous disorder. Histology when correlated with radiological evaluation of a mandibular biopsy was consi

  5. Sexuality education in Brazil.

    Science.gov (United States)

    Suplicy, M

    1994-01-01

    The development of a comprehensive program of sex education in Brazilian schools is described in the context of Brazil's culture and traditions such as the Carnival. The influence of Catholicism is explored as is the effect of the behavioral restrictions called for by scientists concerned about sexually transmitted diseases. The Brazilian response to homosexuality is described, and the emergence of a public discussion of sexuality in the media is traced. It is noted that improvements in the status of women have been held in check by a public ridicule of feminism and by the strength of the traditional patriarchal structures which dominate the culture. With this picture given of how the issue of sexuality fits into Brazilian life, the 1980s initiative on the part of the Work and Research Group for Sex Education is described. Opposition to this effort has largely taken the form of passive resistance; even the Catholic Church has not officially protested the sex education program. Details are provided about 1) the selection of teachers, teacher training, and weekly supervisory teacher meetings; 2) the way in which parental permission for student participation was gained; 3) the implementation of the program; 4) the successes achieved; and 5) the difficulties encountered. Finally, it is noted that plans were made to expand the sex education project from the Sao Paulo area to 6 additional large cities in 1994. Also planned is the publication of the Brazilian Guidelines for Comprehensive Sexuality which will explain the sex education methodology and be extremely valuable in the establishment of new projects. PMID:12287356

  6. Country watch: Brazil.

    Science.gov (United States)

    Szterenfeld, C

    1995-01-01

    The Health in Prostitution Project was launched in 1991 in Rio de Janeiro, Brazil. The project offers a multi-year training program of health education designed to both fight the stigmatization of and violence against commercial sex workers and enhance their self-esteem, self-determination, and access to civil rights. The project therefore promotes individual awareness while influencing public opinion and policies. At first, health agents were recruited among women and transvestites who work in street-based sex work. The program was then gradually expanded to include young male sex workers and other locations, such as private parlors, saunas, and escort services. People of all sexes and sexual orientation now comprise the health agent group. The program has a paid staff of five women, three young men, and three transvestites, and approximately 70 sex workers are trained annually. Basic training includes topics such as human sexuality, personal risk assessment, HIV/STD infection, negotiation of safer sex, and STD referral services. Year two training emphasizes reproductive and women's health issues, while year three courses prioritize street work methodologies. Theatrical performances, speaking English as a second language, and performing Bach flower therapy for clients take place during the fourth year. Program trainers include medical specialists, nurses, psychologists, health educators, lawyers, and university students. At least half of the 350 health agents trained thus far are estimated to be currently engaged in paid or voluntary prevention work. Two surveys with female sex workers in 1991 and 1993 found that reported regular condom use increased from 57% to 73%; the health agents are having an effect. The program is constantly evaluated and revised. PMID:12346918

  7. Zika virus outbreak in Brazil.

    Science.gov (United States)

    Heukelbach, Jorg; Alencar, Carlos Henrique; Kelvin, Alyson Ann; de Oliveira, Wanderson Kleber; Pamplona de Góes Cavalcanti, Luciano

    2016-02-01

    Zika virus (ZIKV) infection is spreading rapidly within the Americas after originating from an outbreak in Brazil. We describe the current ZIKV infection epidemic in Brazil and the neurological symptoms arising. First cases of an acute exanthematic disease were reported in Brazil's Northeast region at the end of 2014. In March 2015, autochthonous ZIKV was determined to be the causative agent of the exanthematic disease. As cases of neurological syndromes in regions where ZIKV, dengue and/or Chikungunya viruses co-circulate were reported, ZIKV was also identified in the cerebrospinal fluid of patients with acute neurological syndromes and previous exanthematic disease. By the end of September 2015, an increasing number of infants with small head circumference or microcephaly were noted in Brazil's Northeast which was estimated to be 29 cases between August and October. ZIKV was identified in blood and tissue samples of a newborn and in mothers who had given birth to infants with microcephaly and ophthalmological anomalies. In 2015, there were an estimated 440,000 - 1,300,000 Zika cases in Brazil. There have been 4,783 suspected cases of microcephaly, most of them in the Northeast of Brazil associated with 76 deaths. The Ministry of Health is intensifying control measures against the mosquito Aedes aegypti and implemented intensive surveillance actions. Further studies are needed to confirm the suspected association between ZIKV infection and microcephaly; to identify antiviral, immunotherapy, or prophylactic vaccine; to introduce diagnostic ELISA testing. Clinical and epidemiological studies must be performed to describe viral dynamics and expansion of the outbreak. PMID:26927450

  8. Zika virus outbreak in Brazil.

    Science.gov (United States)

    Heukelbach, Jorg; Alencar, Carlos Henrique; Kelvin, Alyson Ann; de Oliveira, Wanderson Kleber; Pamplona de Góes Cavalcanti, Luciano

    2016-02-28

    Zika virus (ZIKV) infection is spreading rapidly within the Americas after originating from an outbreak in Brazil. We describe the current ZIKV infection epidemic in Brazil and the neurological symptoms arising. First cases of an acute exanthematic disease were reported in Brazil's Northeast region at the end of 2014. In March 2015, autochthonous ZIKV was determined to be the causative agent of the exanthematic disease. As cases of neurological syndromes in regions where ZIKV, dengue and/or Chikungunya viruses co-circulate were reported, ZIKV was also identified in the cerebrospinal fluid of patients with acute neurological syndromes and previous exanthematic disease. By the end of September 2015, an increasing number of infants with small head circumference or microcephaly were noted in Brazil's Northeast which was estimated to be 29 cases between August and October. ZIKV was identified in blood and tissue samples of a newborn and in mothers who had given birth to infants with microcephaly and ophthalmological anomalies. In 2015, there were an estimated 440,000 - 1,300,000 Zika cases in Brazil. There have been 4,783 suspected cases of microcephaly, most of them in the Northeast of Brazil associated with 76 deaths. The Ministry of Health is intensifying control measures against the mosquito Aedes aegypti and implemented intensive surveillance actions. Further studies are needed to confirm the suspected association between ZIKV infection and microcephaly; to identify antiviral, immunotherapy, or prophylactic vaccine; to introduce diagnostic ELISA testing. Clinical and epidemiological studies must be performed to describe viral dynamics and expansion of the outbreak.

  9. Soybean mutation breeding programme in Malaysia

    International Nuclear Information System (INIS)

    The problem of breeding soybean in Malaysia is discussed with special reference to the use of induced mutation. Soybean is envisaged for planting as an intercrop in the rubber and oil palm plantations as well as a rotational crop with rice and/or other food annuals. An outline of the UKM breeding programme is described. EMS and gamma rays are used for induction of mutations. Three varieties, Acadian, Jupiter and Palmetto are selected for experimentation. Using two different dose levels 80,000 seeds per variety per season are treated with EMS and gamma rays respectively. Doses are chosen for obtaining 70% and 90% killing. The results of pilot experiments conducted in the greenhouse are presented. (author)

  10. Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1 in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing

    Directory of Open Access Journals (Sweden)

    Karina Bezerra Salomão

    2013-01-01

    Conclusion: We can affirm that A1555G mutation is not prevalent, or it must be very rare in normal-hearing subjects in the State of Paranα, the south region of Brazil. The A1555G mutation frequency (1.3% found in individual with nonsyndromic deafness is similar to those found in other populations, with nonsyndromic deafness. Consequently, it should be examined in deafness diagnosis. The investigation of the A1555G mutation can contribute towards the determination of the nonsyndromic deafness etiology, hence, contributing to the correct genetic counseling process.

  11. Autoimmune lymphoproliferative syndrome presenting with glomerulonephritis.

    Science.gov (United States)

    Kanegane, Hirokazu; Vilela, Maria Marluce dos Santos; Wang, Yue; Futatani, Takeshi; Matsukura, Hiroyoshi; Miyawaki, Toshio

    2003-05-01

    Autoimmune lymphoproliferative syndrome (ALPS) is characterized clinically by chronic non-malignant lymphoproliferation and autoimmunity and is caused by a genetic defect in programmed cell death (apoptosis). Most patients with ALPS have heterozygous mutations in the Fas gene. We describe an 11-year-old Brazilian boy with hepatosplenomegaly, lymphadenopathy, hemolytic anemia, and hypergammaglobulinemia since early infancy. T cell lines from the patient were defective in Fas-mediated apoptosis. He was diagnosed as having ALPS and found to have a novel Fas gene mutation (IVS4+1G>A). In addition, he presented with glomerulonephritis in infancy. An aunt and uncle who had the same Fas mutations also had histories of glomerulonephritis. Although glomerulonephritis is common in Fas-deficient mice, it is infrequent in human ALPS. Corticosteroid therapy ameliorated the glomerulonephritis in our patient, as well as his lymphoproliferation, anemia, and hypergammaglobulinemia. This study suggests that glomerulonephritis is one of the characteristic features of ALPS. PMID:12736807

  12. Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

    OpenAIRE

    Reichardt, J K; Packman, S; Woo, S L

    1991-01-01

    Galactosemia is an autosomal recessive disorder of human galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT). The molecular basis of this disorder is at present not well understood. We report here two missense mutations which result in low or undetectable enzymatic activity. First, we identified at nucleotide 591 a transition which substitutes glutamine 188 by arginine. The mutated glutamine is not only highly conserved in evolution (conserv...

  13. Markov models for accumulating mutations

    CERN Document Server

    Beerenwinkel, Niko

    2007-01-01

    We introduce and analyze a waiting time model for the accumulation of genetic changes. The continuous time conjunctive Bayesian network is defined by a partially ordered set of mutations and by the rate of fixation of each mutation. The partial order encodes constraints on the order in which mutations can fixate in the population, shedding light on the mutational pathways underlying the evolutionary process. We study a censored version of the model and derive equations for an EM algorithm to perform maximum likelihood estimation of the model parameters. We also show how to select the maximum likelihood poset. The model is applied to genetic data from different cancers and from drug resistant HIV samples, indicating implications for diagnosis and treatment.

  14. Plant improvement by induced mutations

    International Nuclear Information System (INIS)

    Genetic variability is required for the plant breeder to select better traits. Mutation induction by radiation and other mutagens is a means of altering genes and creating genetic variability for the breeder. A list is given of the number of mutant varieties of vegetables, fruits and ornamental flowers. Data given in the tables show that using induced mutations, 227 improved varieties of agricultural crops have been developed and released to farmers in 35 different countries. The IAEA has been involved in fostering mutation breeding since its foundation through training and direct research support. The Joint FAO/IAEA Division has published the Mutation Breeding Newsletter for plant breeders all over the world to keep abreast with developments in this field

  15. Mutation Breeding Newsletter. No. 37

    International Nuclear Information System (INIS)

    This newsletter contains a brief account of FAO/IAEA meetings held in 1990 on plant breeding involving the use of induced mutations. It also features a list of commercially available plant cultivars produced by such techniques. Refs and tabs

  16. [Blood regulation in Brazil: contextualization for improvement].

    Science.gov (United States)

    Silva Júnior, João Batista; Costa, Christiane da Silva; Baccara, João Paulo de Araújo

    2015-10-01

    The use of blood products as essential medicines and the recognition of the high risk associated with blood transfusions require governments to take regulatory action with a focus on quality and safety. In this scenario, regulatory agencies play an essential role in socially advancing the guarantee that blood components will be produced according to current operating rules. Thus, in the effort to manage sanitary risks involved in the processing and use of blood, the Brazilian regulatory model, based on the construction of a national blood policy overseen by the State, has undergone conceptual improvement and review of the tools employed to achieve its goals. With the inclusion of good manufacturing practices as part of the Brazilian norms, as recommended by the World Health Organization, the country has moved forward in its view of blood facilities as manufacturing centers producing blood-derived biologics for therapeutic applications. It has also strengthened the need to develop safety mechanisms for blood donors and recipients. The development of a State-coordinated national blood policy and the institution of a national surveillance system with legitimate power of inspection are essential elements used in Brazil to guarantee the amount, quality, safety, and timeliness of blood supply to the population. The present article aims to discuss the present context of the blood regulatory model in Brazil so as to identify the challenges for improvement of this model. PMID:26758225

  17. Use of GIS for Earthquakes in Brazil

    Science.gov (United States)

    Franca, G. S.; Algarte, K. T.; Assumpcao, M.; Barbosa, J. R.; Roig, H. L.; Pascual, M. F.; Vasconcelos, A. E.; Ferreira, J. M.; Ribotta, L. C.; do Nascimento, A. F.; Pavao, C. G.

    2011-12-01

    We present geoprocessing techniques to monitor and analyse earthquakes in Brazil. We constructed a georeferenced database called SIGSIBRA using PostgreSQL + PostGIS softwares, and fed by information from the SISBRA earthquake catalog, IBGE geographical data and CPRM geological data. The SISBRA catalog was built from the book "Sismicidade Brasileira" (Berrocal et al, 1984), updated with the Brazilian seismic bulletins from the Brazilian Geophysical Journal up to 1995, and especially with the data from seismographic monitoring activities of the University of Brasília-SIS/UnB, the Federal University of Rio Grande do Norte-UFRN, the University of Sao Paulo-USP and the Institute for Technological Research (IPT). Earthquakes occur in Brazil with moderate to low magnitudes. Besides natural earthquakes, seismic activity triggered by water dams must also be monitored. With the growing number and size of Brazilian dams (because of the many rivers, favorable topography and "clean" energy) concern with reservoir triggered seismicity is expected to increase. Approval for the construction of a hydropower plant requires seismic hazard assesmment prepared by an interdisciplinary team, with a large contribution of geoprocessing specialists. Therefore, it is important to study the characteristics of this seismicity, so that these professionals can avoid or mitigate potential environmental and social harm to communities on the margins of large dams. Thus the SIGSIBRA system can generate spatial analysis of its events, such as intensity estimation of "Kernel" points distribution; spatial statistics; spatial autocorrelation (Morans I) and correlations with geological structures, making it possible to characterize important aspects of the Brazilian seismicity. Finally, we show the statistical analysis of the database through the program ZMAP and estimate the intraplate seismogenic zones in Brazil.

  18. A comparative study on music teacher preparation in Portugal and Brazil

    OpenAIRE

    Graça Mota; Sergio Figueiredo

    2012-01-01

    The preparation of music teachers in Portugal and Brazil is the focus of this text, which aims at presenting preliminary aspects of a study in progress in the context of higher education in both countries. Inspired by comparative education methodology, the present study is investigating official documents and academic curricula offered in Portugal and Brazil for the music teachers’ preparation to promote, in different ways, the comparative reflection with an emphasis on school education. The ...

  19. Studies of human mutation rates

    Energy Technology Data Exchange (ETDEWEB)

    Neel, J.V.

    1991-07-15

    The three objectives of the program are: To isolate by the technique of two-dimensional polyacrylamide gel electrophoresis (2-D PAGE), proteins of special interest because of the relative mutability of the corresponding gene, establish the identity of the protein, and, for selected proteins, move to a characterization of the corresponding gene; To develop a more efficient approach, based on 2-D PAGE, for the detection of variants in DNA, with special reference to the identification of a variant in a child not present in either parent of the child (i.e., a mutation); and, To continue an effective interface with the genetic studies on the children of atomic bomb survivors in Japan, with reference to both the planning and implementation of new studies at the molecular level. For administrative purposes, the program is subdivided into four sections, each under the direction of one of the four co-PIs; the progress during the past year will be summarized in accordance with this sectional structure. 1 tab.

  20. Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3.

    Directory of Open Access Journals (Sweden)

    Fenghao Chen

    Full Text Available The A391E mutation in fibroblast growth factor receptor 3 (FGFR3 is the genetic cause for Crouzon syndrome with Acanthosis Nigricans. Here we investigate the effect of this mutation on FGFR3 activation in HEK 293 T cells over a wide range of fibroblast growth factor 1 concentrations using a physical-chemical approach that deconvolutes the effects of the mutation on dimerization, ligand binding, and efficiency of phosphorylation. It is believed that the mutation increases FGFR3 dimerization, and our results verify this. However, our results also demonstrate that the increase in dimerization is not the sole effect of the mutation, as the mutation also facilitates the phosphorylation of critical tyrosines in the activation loop of FGFR3. The activation of mutant FGFR3 is substantially increased due to a combination of these two effects. The low expression of the mutant, however, attenuates its signaling and may explain the mild phenotype in Crouzon syndrome with Acanthosis Nigricans. The results presented here provide new knowledge about the physical basis behind growth disorders and highlight the fact that a single RTK mutation may affect multiple steps in RTK activation.

  1. Gene mutations in hepatocellular adenomas

    DEFF Research Database (Denmark)

    Raft, Marie B; Jørgensen, Ernö N; Vainer, Ben

    2015-01-01

    is associated with bi-allelic mutations in the TCF1 gene and morphologically has marked steatosis. β-catenin activating HCA has increased activity of the Wnt/β-catenin pathway and is associated with possible malignant transformation. Inflammatory HCA is characterized by an oncogene-induced inflammation due....... This review offers an overview of the reported gene mutations associated with hepatocellular adenomas together with a discussion of the diagnostic and prognostic value....

  2. PPARγ mutations, lipodystrophy and diabetes.

    Science.gov (United States)

    Astapova, Olga; Leff, Todd

    2014-11-01

    The focus of this review is the lipodystrophy syndrome caused by mutation in the PPARγ nuclear receptor - partial familial lipodystrophy FPLD3. To provide a broader context for how these mutations act to generate the clinical features of partial lipodystrophy we will review the basic biology of PPARγ and also survey the set PPARγ genetic variants that do not cause lipodystrophy, but are nonetheless associated with clinically related syndromes, specifically type 2 diabetes.

  3. Genome Destabilizing Mutator Alleles Drive Specific Mutational Trajectories in Saccharomyces cerevisiae

    Science.gov (United States)

    Stirling, Peter C.; Shen, Yaoqing; Corbett, Richard; Jones, Steven J. M.; Hieter, Philip

    2014-01-01

    In addition to environmental factors and intrinsic variations in base substitution rates, specific genome-destabilizing mutations can shape the mutational trajectory of genomes. How specific alleles influence the nature and position of accumulated mutations in a genomic context is largely unknown. Understanding the impact of genome-destabilizing alleles is particularly relevant to cancer genomes where biased mutational signatures are identifiable. We first created a more complete picture of cellular pathways that impact mutation rate using a primary screen to identify essential Saccharomyces cerevisiae gene mutations that cause mutator phenotypes. Drawing primarily on new alleles identified in this resource, we measure the impact of diverse mutator alleles on mutation patterns directly by whole-genome sequencing of 68 mutation-accumulation strains derived from wild-type and 11 parental mutator genotypes. The accumulated mutations differ across mutator strains, displaying base-substitution biases, allele-specific mutation hotspots, and break-associated mutation clustering. For example, in mutants of POLα and the Cdc13–Stn1–Ten1 complex, we find a distinct subtelomeric bias for mutations that we show is independent of the target sequence. Together our data suggest that specific genome-instability mutations are sufficient to drive discrete mutational signatures, some of which share properties with mutation patterns seen in tumors. Thus, in a population of cells, genome-instability mutations could influence clonal evolution by establishing discrete mutational trajectories for genomes. PMID:24336748

  4. Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients

    Indian Academy of Sciences (India)

    Madhurima Dikshit; Rakhi Agarwal

    2001-08-01

    More than 100 mutations have been reported till date in the rhodopsin gene in patients with retinitis pigmentosa. The present study was undertaken to detect the reported rhodopsin gene point mutations in Indian retinitis pigmentosa patients. We looked for presence or absence of codon 345 and 347 mutations in exon 5 of the gene using the technique of allele-specific polymerase chain reaction by designing primers for each mutation. We have examined 100 patients from 76 families irrespective of genetic categories. Surprisingly, in our sample the very widely reported highly frequent mutations of codon 347 (P → S/A/R/Q/L/T) were absent while the codon 345 mutation V → M was seen in three cases in one family (autosomal dominant form) and in one sporadic case (total two families). This is the first report on codon 345 and 347 mutation in Indian retinitis pigmentosa subjects.

  5. Lung Adenocarcinoma with Pulmonary Miliary Metastases and Complex Somatic Heterozygous EGFR Mutation

    Directory of Open Access Journals (Sweden)

    Alexandre Schaller

    2014-11-01

    Full Text Available The pretreatment detection of an activating mutation of EGFR is now routinely performed in metastatic nonsquamous non-small cell lung cancer (NSCLC. The therapeutic impact of such a detection is major, as patients with advanced NSCLC exhibiting a mutation of exon 19 or 21 will benefit from EGFR-tyrosine kinase inhibitors (TKI. The presence of an EGFR resistance mutation, such as T790M in EGFR-TKI-naïve patients, is seldom looked for and is related either to a germinal mutation or to somatically mutated subclones. It has a negative predictive impact. We present the case of a patient with a lung papillary adenocarcinoma and miliary intrapulmonary metastases whose tumor displays a somatic complex heterozygous EGFR mutation, combining L858R (exon 21 and a primary resistance mutation T790M (exon 20, both detected by direct sequencing.

  6. Estimation of mutation rates from paternity cases using a Bayesian network

    DEFF Research Database (Denmark)

    Vicard, P.; Dawid, A.P.; Mortera, J.;

    We present a statistical model and methodology for making inferences about mutation rates from paternity casework. This takes proper account of a number of sources of potential bias, including hidden mutation, incomplete family triplets, uncertain paternity status and differing maternal...... and paternal mutation rates, while allowing a wide variety of mutation models. A Bayesian network is constructed to facilitate computation of the likelihood function for the mutation parameters. It can process both full and summary genotypic information, from both complete putative father-mother-child triplets...... and defective cases where only the child and one of its parents are observed. Detailed analysis of a specific dataset is used to illustrate the effects of the various types of biases, and of the assumed mutation model, on inferences about mutation parameters....

  7. Adaptive mutations produce resistance to ciprofloxacin.

    OpenAIRE

    Riesenfeld, C; Everett, M.; Piddock, L J; Hall, B G

    1997-01-01

    Mutation to ciprofloxacin resistance continually occurred in nondividing Escherichia coli cells during a 7-day exposure to ciprofloxacin in agar, while no accumulation of rifampin resistance mutations was detected in those cells. We propose that the resistance mutations result from adaptive mutations, which preferentially produce phenotypes that promote growth in nondividing cells.

  8. Acute Lymphoblastic Leukemia Arising in CALR Mutated Essential Thrombocythemia

    Directory of Open Access Journals (Sweden)

    Stephen E. Langabeer

    2016-01-01

    Full Text Available The development of acute lymphoblastic leukemia in an existing myeloproliferative neoplasm is rare with historical cases unable to differentiate between concomitant malignancies or leukemic transformation. Molecular studies of coexisting JAK2 V617F-positive myeloproliferative neoplasms and mature B cell malignancies indicate distinct disease entities arising in myeloid and lymphoid committed hematopoietic progenitor cells, respectively. Mutations of CALR in essential thrombocythemia appear to be associated with a distinct phenotype and a lower risk of thrombosis yet their impact on disease progression is less well defined. The as yet undescribed scenario of pro-B cell acute lymphoblastic leukemia arising in CALR mutated essential thrombocythemia is presented. Intensive treatment for the leukemia allowed for expansion of the original CALR mutated clone. Whether CALR mutations in myeloproliferative neoplasms predispose to the acquisition of additional malignancies, particularly lymphoproliferative disorders, is not yet known.

  9. Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.

    Science.gov (United States)

    Gasse, B; Karayigit, E; Mathieu, E; Jung, S; Garret, A; Huckert, M; Morkmued, S; Schneider, C; Vidal, L; Hemmerlé, J; Sire, J-Y; Bloch-Zupan, A

    2013-07-01

    In this article, we focus on hypomaturation autosomal-recessive-type amelogenesis imperfecta (type IIA2) and describe 2 new causal Matrix metalloproteinase 20 (MMP20) mutations validated in two unrelated families: a missense mutation p.T130I at the expected homozygous state, and a compound heterozygous mutation having the same mutation combined with a nucleotide deletion, leading to a premature stop codon (p.N120fz*2). We characterized the enamel structure of the latter case using scanning electron microscopy analysis and microanalysis (Energy-dispersive X-ray Spectroscopy, EDX) and confirmed the hypomaturation-type amelogenesis imperfecta as identified in the clinical diagnosis. The mineralized content was slightly decreased, with magnesium substituting for calcium in the crystal structure. The anomalies affected enamel with minimal inter-rod enamel present and apatite crystals perpendicular to the enamel prisms, suggesting a possible new role for MMP20 in enamel formation.

  10. Deforestation in Brazil: motivations, journeys and tendencies

    Science.gov (United States)

    Leite, J. C.; Ferreira, A. J. D.; Esteves, T. C. J.; Bento, C. P. M.

    2012-04-01

    José Carlos Leite1; António José Dinis Ferreira2; Tanya Cristina de Jesus Esteves2; Célia Patrícia Martins Bento2 1Universidade Federal de Mato Grosso, Brazil; 2IPC - Escola Superior Agrária de Coimbra, Portugal Over the last three decades, deforestation in Brazil occurred systematically in the area known as the "arc of deforestation", an extensive geographical area located in the interface of the Cerrado and the Amazon biomes. This work encompasses the reasons, causes and/or motivations of that recent deforestation, focusing on the Central-West and Northern regions. A number of reasons will be presented, seeking to build an approach able to identify the deepest roots of deforestation of those regions. Our actions over the environment are framed by our cultural matrix that stream from a western philosophic attitude. This way, to understand the framework where the deforestation actions are justified requires a multidisciplinary approach to understand the deforestation of the Cerrado and Amazon biomes, since the motivations for forest destruction in Brazil are complex and not entirely understood within the domains of a single disciplinary area. To search for an isolated cause to understand the recent deforestation can only be plausible if we ignore information on what actually happens. The methodology used in this work is based on a bibliographical revision, analysis of georeferrenced information, participative processes implementation and observation of stakeholder behavior, and field research. It departs from a general vision on deforestation that initially occurred at the littoral region, by the Atlantic Rainforest, right after the arrival of the Europeans, and throughout the centuries penetrates towards the interior, hitting the Cerrado and Amazon biomes. In this last case, we focused on the Vale do Alto Guaporé region, near Bolivia, where the intensity of the deforestation was verified from 1970 to 1990. Ultimately, the final result is a mosaic of reasons

  11. Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients

    Directory of Open Access Journals (Sweden)

    Dayse Oliveira de Alencar

    2014-01-01

    Full Text Available The Fabry disease is caused by mutations in the gene (GLA that encodes the enzyme α-galactosidase A (α-Gal A. More than 500 pathologic variants of GLA have already been described, most of them are family-specific. In southern Brazil, a frequent single-base deletion (GLA 30delG was identified among four families that do not recognize any common ancestral. In order to investigate the history of this mutation (investigate the founder effect, estimate the mutation age and the most likely source, six gene-flanking microsatellite markers of the X chromosome on the mutation carriers and their parents, 150 individuals from the same population and 300 individuals that compose the Brazilian parental populations (Europeans, Africans and Native Americans were genotyped. A common haplotype to the four families was identified and characterized as founder. The age was estimated with two statistics software (DMLE 2.2 and ESTIAGE that agreed with 11 to 12 generations old. This result indicates that the mutation GLA 30delG was originated from a single event on the X chromosome of a European immigrant, during the southern Brazil colonization between 1710 and 1740.

  12. Offshoring call centers for emerging markets: findings from Brazil

    Directory of Open Access Journals (Sweden)

    Paulo Roberto Gião

    2008-01-01

    Full Text Available Offshoring production and services is changing business models in many industries. Many manufacturing sectors and more recently service sectors are moving their plants or installations abroad, to affiliates or third-party companies in developing countries. This movement is also happening in the call center industry since India is the destination for many call centers, Brazil as well as presents good perspectives based on its multicultural society and the stage of the Brazilian call center industry. To understand and identify the potential capabilities and opportunities in this industry, a survey was carried out sampling 114 call centers located in Brazil. The main data shows the competitiveness of Brazil along with other emerging countries. Offshoring call centers are on the way up and Brazil has the capability to be a great player as the presented cases show. Results obtained from the survey demonstrate that Brazilian call centers are in the initial stage of internationalization, but that can change very quickly because the main infrastructure and human resources already exist and can be readied based on the technologies and competencies to serve international markets.

  13. OFFSHORING CALL CENTERS FOR EMERGING MARKETS: findings from Brazil

    Directory of Open Access Journals (Sweden)

    PAULO ROBERTO GIÃO

    2007-07-01

    Full Text Available Offshoring production and services is changing business models in many industries. Manymanufacturing sectors and more recently service sectors are moving their plants orinstallations abroad, to affiliates or third-party companies in developing countries. Thismovement is also happening in the call center industry since India is the destination for manycall centers, Brazil as well as presents good perspectives based on its multicultural society andthe stage of the Brazilian call center industry. To understand and identify the potentialcapabilities and opportunities in this industry, a survey was carried out sampling 114 callcenters located in Brazil. The main data shows the competitiveness of Brazil along with otheremerging countries. Offshoring call centers are on the way up and Brazil has the capability tobe a great player as the presented cases show. Results obtained from the survey demonstratethat Brazilian call centers are in the initial stage of internationalization, but that can changevery quickly because the main infrastructure and human resources already exist and can bereadied based on the technologies and competencies to serve international markets.

  14. Energy and environmental potential of solid waste in Brazil

    International Nuclear Information System (INIS)

    The economic progress and sustainable developments are linked to the optimization and energy conservation. Conventional methods of production and energy utilization usually embed harmful environmental impacts, and hence the challenge to scientists to seek for mechanisms of energy production and use which are less harmful or better still free of unfavorable environmental impacts. Studies point out that municipal solid waste has great energy potential and its reuse, specifically the production of biogas from landfills and the recycling of solid waste presents a favorable mechanism to optimize energy use and preserve it. The present investigation includes the energy savings and the avoided emissions of CO2 to the atmosphere as a result of recycling and production of biogas from landfills in one metropolitan with more than one million inhabitants and in Brazil. The results show that the rate of CH4 production from the Brazilian waste landfills can avail for Brazil about 41.7 MW and the reuse of recyclables can avail to the energy system an additional quantity of 286 GJ/month enough for the consumption of 318,000 families. - Highlights: → This paper highlights four fundamental and potential points of solid waste. → Energy, environmental and social aspects of solid waste as a source of energy in Brazil. → The use of organic matter deposited in the landfills as mechanism to generate energy from biogas. → Recycling economizes energy, raw material, creates jobs, income and social inclusion. → Selective collection and recycling increases the Family Grants and the social inclusion in Brazil.

  15. A historical perspective on malaria control in Brazil.

    Science.gov (United States)

    Griffing, Sean Michael; Tauil, Pedro Luiz; Udhayakumar, Venkatachalam; Silva-Flannery, Luciana

    2015-09-01

    Malaria has always been an important public health problem in Brazil. The early history of Brazilian malaria and its control was powered by colonisation by Europeans and the forced relocation of Africans as slaves. Internal migration brought malaria to many regions in Brazil where, given suitable Anopheles mosquito vectors, it thrived. Almost from the start, officials recognised the problem malaria presented to economic development, but early control efforts were hampered by still developing public health control and ignorance of the underlying biology and ecology of malaria. Multiple regional and national malaria control efforts have been attempted with varying success. At present, the Amazon Basin accounts for 99% of Brazil's reported malaria cases with regional increases in incidence often associated with large scale public works or migration. Here, we provide an exhaustive summary of primary literature in English, Spanish and Portuguese regarding Brazilian malaria control. Our goal was not to interpret the history of Brazilian malaria control from a particular political or theoretical perspective, but rather to provide a straightforward, chronological narrative of the events that have transpired in Brazil over the past 200 years and identify common themes.

  16. Brazil and CERN get closer

    CERN Multimedia

    2002-01-01

    The map of countries affiliated to CERN may in future include Brazil. On a visit to CERN last week, the Brazilian Minister of State for Science and Technology, Ronaldo Mota Sardenberg, expressed his country's interest in closer links to the Laboratory.   Luciano Maiani and the Brazilian Minister of State for Science and Technology Ronaldo Mota Sardenberg shake hands on CERN-Brazil co-operation. During his visit, the Minister and CERN Director General Luciano Maiani issued a joint statement for the continuation of a Co-operation Agreement first established in 1990. They also agreed to study the possibility of Brazil joining CERN-led Grid computing infrastructure projects. Brazilian physicists are already involved in the LHCb, ATLAS and CMS experiments. At the conclusion of the Minister's visit, he and Director-General Maiani agreed to establish a Working Group to examine ways of strengthening Brazil's links with CERN, and to prepare the way for a Brazilian request to CERN Council to become an Observer at th...

  17. [Nuptiality among Brazil's black population].

    Science.gov (United States)

    Berquo, E

    1987-08-01

    Data from a three percent sample of the 1980 census of Brazil are used to analyze nuptiality trends by ethnic group. The focus is on the homogamy of marriage by color and age and on the marriage patterns of the black population.

  18. Violence in Schools in Brazil.

    Science.gov (United States)

    Pino, Angel

    1995-01-01

    The causes of violence in schools, as in society, are multiple and complex; they are rooted in the intolerable economic and social conditions created by Brazil's development model, characterized by unequal wealth distribution, widespread poverty, and an exclusive society. By mirroring this exclusionary process, the educational system is inherently…

  19. Evaluating School Facilities in Brazil

    Science.gov (United States)

    Ornstein, Sheila Walbe; Moreira, Nanci Saraiva

    2008-01-01

    Brazil's Sao Paulo Metropolitan Region is conducting a performance evaluation pilot study at three schools serving disadvantaged populations. The objective is first to test methods which can facilitate Post Occupancy Evaluations (POEs) and then to carry out the evaluations. The preliminary results are provided below.

  20. Ichthyosis vulgaris: the filaggrin mutation disease.

    Science.gov (United States)

    Thyssen, J P; Godoy-Gijon, E; Elias, P M

    2013-06-01

    Ichthyosis vulgaris is caused by loss-of-function mutations in the filaggrin gene (FLG) and is characterized clinically by xerosis, scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders. According to the published studies presented in this review article, FLG mutations are observed in approximately 7·7% of Europeans and 3·0% of Asians, but appear to be infrequent in darker-skinned populations. This clinical review article provides an overview of ichthyosis vulgaris epidemiology, related disorders and pathomechanisms. Not only does ichthyosis vulgaris possess a wide clinical spectrum, recent studies suggest that carriers of FLG mutations may have a generally altered risk of developing common diseases, even beyond atopic disorders. Mechanistic studies have shown increased penetration of allergens and chemicals in filaggrin-deficient skin, and epidemiological studies have found higher levels of hand eczema, irritant contact dermatitis, nickel sensitization and serum vitamin D levels. When relevant, individuals should be informed about an increased risk of developing dermatitis when repeatedly or continuously exposed to nickel or irritants. Moreover, with our current knowledge, individuals with ichthyosis vulgaris should be protected against neonatal exposure to cats to prevent atopic dermatitis and should abstain from smoking to prevent asthma. Finally, they should be advised against excessive exposure to factors that decrease skin barrier functions and increase the risk of atopic dermatitis.