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Sample records for brazil presenting mutations

  1. Mutation breeding in Brazil

    International Nuclear Information System (INIS)

    How mutation induction is used for plant breeding in Brazil is reported. For upland rice, the combined treatment with gamma-ray and mutagens (ethylene imine or ethylmethane sulfonate) has been used on the variety, Dourado Precoce, and some mutants with shortculm length and/or earliness without altering the productivity have been obtained. A project on the quantitative and qualitative protein improvement in upland rice was also started in 1979. In corn, the effect of gamma-irradiation on heterosis has been analyzed, and it was found that the single hybrids from two parental lines derived from irradiated seeds had increased ear productivity. For beans (Phaseolus yulgaris), gamma-irradiation and chemical mutagens have been used to induce the mutants with different seed color, disease resistance to golden mosaic virus and Xanthomonas phaseoli, earliness, high productivity and high protein content. Some mutants with partly improved characters have been obtained in these experiments. Two varieties of wheat tolerant to aluminum toxicity have been obtained, but the one showed high lodging due to its unfavorable plant height, and the other was highly susceptible to culm rust. Therefore, irradiation experiments have been started to improve these characters. The projects involving the use of gamma-irradiation have been tested to obtain the mutant lines insensitive to photoperiod and resistant to bud-blight in soybean, the mutant lines resistant to mosaic virus in papaya, the photoperiod-insensitive mutants in sorghum, the mosaic virus resistant and non-flowering mutants in sugar cane, and the Fusarium and nematode-resistant mutants in black pepper. (Kaihara, S.)

  2. 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)

  3. PKU in Minas Gerais State, Brazil: mutation analysis.

    Science.gov (United States)

    Santos, L L; Castro-Magalhães, M; Fonseca, C G; Starling, A L P; Januário, J N; Aguiar, M J B; Carvalho, M R S

    2008-11-01

    This work was undertaken in order to ascertain the PKU mutational spectrum in Minas Gerais, Brazil, the relative frequency of the mutations in the State and the origin of these mutations by haplotype determination. Minas Gerais is a trihybrid population formed by miscegenation from Europeans, Africans and Amerindians. All 13 exons of the PAH gene from 78 PKU patients were analyzed, including splicing sites and the promoter region. We identified 30 different mutations and 98% of the PAH alleles were established. A new mutation (Q267X) was identified as well. The most common mutations found were V388M (21.2), R261Q (16.0%), IVS10-11G>A (15.3%), I65T (5.8%), IVS2+5G>C (5.8%), R252W (5.1%), IVS2+5G>A (4.5%), P281L (3.8%) and L348V (3.2%). These nine mutations correspond to 80% of the PKU alleles in the state. Haplotypes were determined to characterize the origin of the PAH alleles. The majority of the mutations found, with respective haplotypes, are frequent in the Iberian Peninsula. However, there were some mutations that are rare in Europe and four previously unreported mutation-haplotype associations. I65T and Q267X were found in association with haplotype 38 and may be African in origin or the result of miscegenation in the Brazilian population. PMID:18798839

  4. 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.

  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. PMID:27192129

  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. BRAT1 mutations present with a spectrum of clinical severity.

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

  9. 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

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

    International Nuclear Information System (INIS)

    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. 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. 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. 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

  11. 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.

  12. The evolution and present situation of nuclear energy legislation in Brazil

    International Nuclear Information System (INIS)

    The present status of nuclear legislation in Brazil is presented. The principal legislative acts are analysed, regarding the evolution of nuclear activities. Special reference is made to the Brazilian policy on the peaceful uses of nuclear energy. (A.L.)

  13. Present situation of food irradiation in South America and the regulatory perspectives for Brazil

    International Nuclear Information System (INIS)

    This presentation shows the main aspects of the Brazilian and Argentinean regulations on food irradiation, the current situation in each country and the perspectives for legislation in Brazil. (author)

  14. Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients*

    OpenAIRE

    Vieira, Fatima Mendonça Jorge; NAKHLE Maria Cristina; Abrantes-Lemos, Clarice Pires; Cançado, Eduardo Luiz Rachid; dos Reis, Vitor Manoel Silva

    2013-01-01

    BACKGROUND Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with porphyria cutanea tarda worldwide, although up to date only one study has been conducted in Brazil. OBJECTIVES Investigation of porphyria cutanea tarda association with C282Y and H63D mutations in the HFE gene. Identification of precipitating factors (hepat...

  15. Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil

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    V.F. Esteves

    2009-05-01

    Full Text Available Of all malignant neoplasias affecting women, breast cancer has the highest incidence rate in Brazil. The objective of the present study was to determine the frequency of genetic modifications in families with medium and high risk for breast and ovarian cancer from different regions of Brazil. An exploratory, descriptive study was carried out on the prevalence of the BRCA1 and BRCA2 mutations in case series of high-risk families for breast and/or ovarian cancer. After heredogram construction, a blood sample was taken and DNA extraction was performed in all index cases. The protein truncation test was used to screen for truncated mutations in exon 11 of the BRCA1 gene and in exons 10 and 11 of the BRCA2 gene. Of the 612 individuals submitted to genetic testing, 21 (3.4%, 19 women and 2 men, had mutations in the BRCA1 or BRCA2 genes. Of the 19 BRCA1 mutations found in the 18 participants, 7 consisted of ins6kb mutations, 4 were 5382insC, 3 were 2156delGinsCC, 2 were 185delAG, 1 was C1201G, 1 was C3522T, and 1 was 3450del4. With respect to the BRCA2 gene, 3 mutations were found: 5878del10, 5036delA and 4232insA (one case each. The prevalence of germline mutations in the BRCA1 and BRCA2 genes found in the present study was lower than reported by other studies on high-risk Brazilian populations. The inclusion of individuals with medium risk may have contributed to the lower prevalence observed.

  16. The Presenilin 1 P264L mutation presenting as non-fluent/agrammatic primary progressive aphasia

    OpenAIRE

    Mahoney, C. J.; Downey, L. E.; Beck, J; Liang, Y; Mead, S; Perry, R. J.; Warren, J D

    2013-01-01

    Primary progressive aphasia (PPA) represents a diverse group of language-led dementias most often due to frontotemporal lobar degeneration. We report clinical, neuropsychological, and neuroimaging data in the case of a 47-year-old woman presenting with non-fluent PPA due to a genetically confirmed pathogenic Presenilin 1 P264L mutation. This case highlights an unusual clinical presentation of familial Alzheimer's disease and a novel presentation of the P264L mutation. The case adds to accumul...

  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. 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

  20. 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.

  1. Antiretroviral resistance in individuals presenting therapeutic failure and subtypes of the human immunodeficiency virus type 1 in the Northeast Region of Brazil

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    Ana Maria Salustiano Cavalcanti

    2007-11-01

    Full Text Available This study aimed to analyze human immunodeficiency virus (HIV mutation profiles related to antiretroviral resistance following therapeutic failure, and the distribution of hiv subtypes in the Northeast Region of Brazil. A total of 576 blood samples from AIDS patients presenting therapeutic failure between 2002 and 2004 were analyzed. The genotyping kit viroSeq® was used to perform viral amplification in order to identify mutations related to hiv pol gene resistance. An index of 91.1% of the patients presented mutations for nucleoside reverse transcriptase inhibitors (nrti, 58.7% for non-nucleoside reverse transcriptase inhibitors (nnrti, and 94.8% for protease inhibitors (pi. The most prevalent mutations were 184V and 215E for nrti, 103N and 190A for nnrti. Most mutations associated with PIs were secondary, but significant frequencies were observed in codons 90 (25.2%, 82 (21.1%, and 30 (16.2%. The resistance index to one class of antiretrovirals was 14%, to two classes of antiretrovirals 61%, and to three classes 18.9%. Subtype B was the most prevalent (82.4% followed by subtype F (11.8%. The prevalence of mutations related to nrti and nnrti was the same in the two subtypes, but codon analysis related to PI showed a higher frequency of mutations in codon 63 in subtype B and in codon 36 in subtype F. The present study showed that there was a high frequency of primary mutations, which offered resistance to nrti and nnrti. Monitoring patients with treatment failure is an important tool for aiding physicians in rescue therapy.

  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.

    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.

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

    Science.gov (United States)

    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

  5. 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.

  6. 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.

  7. Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

    Science.gov (United States)

    Tay, Stacey K H; Sacconi, Sabrina; Akman, H Ohran; Morales, Judith F; Morales, Augusto; De Vivo, Darryl C; Shanske, Sara; Bonilla, Eduardo; DiMauro, Salvatore

    2005-08-01

    Mutations in the SURF1 gene are the most frequent causes of Leigh disease with cytochrome c oxidase deficiency. We describe four children with novel SURF1 mutations and unusual features: three had prominent renal symptoms and one had ragged red fibers in the muscle biopsy. We identified five pathogenic mutations in SURF1: two mutations were novel, an in-frame nonsense mutation (834G-->A) and an out-of-frame duplication (820-824dupTACAT). Although renal manifestations have not been described in association with SURF1 mutations, they can be part of the clinical presentation. Likewise, mitochondrial proliferation in muscle (with ragged red fibers) is most unusual in Leigh disease but might be part of an emerging phenotype. PMID:16225813

  8. 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

  9. Single nucleotide polymorphism array lesions, TET2, DNMT3A, ASXL1 and CBL mutations are present in systemic mastocytosis.

    Directory of Open Access Journals (Sweden)

    Fabiola Traina

    Full Text Available We hypothesized that analysis of single nucleotide polymorphism arrays (SNP-A and new molecular defects may provide new insight in the pathogenesis of systemic mastocytosis (SM. SNP-A karyotyping was applied to identify recurrent areas of loss of heterozygosity and bidirectional sequencing was performed to evaluate the mutational status of TET2, DNMT3A, ASXL1, EZH2, IDH1/IDH2 and the CBL gene family. Overall survival (OS was analyzed using the Kaplan-Meier method. We studied a total of 26 patients with SM. In 67% of SM patients, SNP-A karyotyping showed new chromosomal abnormalities including uniparental disomy of 4q and 2p spanning TET2/KIT and DNMT3A. Mutations in TET2, DNMT3A, ASXL1 and CBL were found in 23%, 12%, 12%, and 4% of SM patients, respectively. No mutations were observed in EZH2 and IDH1/IDH2. Significant differences in OS were observed for SM mutated patients grouped based on the presence of combined TET2/DNMT3A/ASXL1 mutations independent of KIT (P = 0.04 and sole TET2 mutations (P<0.001. In conclusion, TET2, DNMT3A and ASXL1 mutations are also present in mastocytosis and these mutations may affect prognosis, as demonstrated by worse OS in mutated patients.

  10. Present status of rice breeding by induced mutations in Taiwan, Republic of China

    International Nuclear Information System (INIS)

    Since 1957, fourteen varieties, including both indica and japonica, have been treated with X-rays, gamma rays, thermal neutrons and EMS for inducing mutations. The objectives are: (1) To obtain erectoid mutants of good lodging resistance from the tall native varieties which can be adapted for intensive culture; (2) To obtain early maturing mutants with at least the same yield as the original variety, so that the multiple cropping system of Taiwan can be easily handled; and (3) To obtain disease-resistant mutants. The results obtained suggest that after a useful gene such as erectoid has been obtained by induced mutation, it can be used immediately. But in general, it will be more useful to combine this character into other genotypic backgrounds by cross-breeding. Henceforth, further breeding must be carried out by cross-breeding. A number of promising lines were selected from induced mutants after being crossed with local varieties and the advanced test of these lines is being carried on at present. (author)

  11. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

    DEFF Research Database (Denmark)

    Meeths, Marie; Bryceson, Yenan T; Rudd, Eva; Zheng, Chengyun; Wood, Stephanie M; Ramme, Kim; Beutel, Karin; Hasle, Henrik; Heilmann, Carsten Johan; Hultenby, Kjell; Ljunggren, Hans-Gustaf; Fadeel, Bengt; Nordenskjöld, Magnus; Henter, Jan-Inge

    2010-01-01

    Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndromes...... without mutations in familial HLH (FHL) causing genes or an established diagnosis of GS2. In addition, we report three patients with known GS2. Moreover, neurological involvement and RAB27A mutations in previously published patients with genetically verified GS2 are reviewed....

  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. Amelanotic melanoma presenting with plasmacytoid morphology and BRAF V600 mutation

    Directory of Open Access Journals (Sweden)

    Linda Kocovski

    2015-06-01

    Full Text Available Plasmacytoid melanoma is an unusual variant of malignant melanoma. The plasmacytoid morphology can be found in a variety of other malignancies including carcinomas, plasma cell neoplasms, lymphoproliferative disorders, and sarcomas. The authors report a rare case of plasmacytoid amelanotic malignant melanoma in a 78-year-old man presenting with an enlarging palpable, erythematous mass on his left posterior shoulder. A fine needle aspirate showed atypical findings with single amelanotic cells with high nuclear to cytoplasmic ratio, mono- and multi-nucleation with prominent nucleoli and intranuclear inclusions. Review of the excision and immunohistochemical analysis revealed the malignant plasmacytoid cells stained with vimentin, S-100, HMB-45, and other staining patterns consistent with melanoma. Initial evaluation was negative for other sites of disease. However, 4 months later, the patient was noted to have metastatic disease to his lungs and liver. Given that the tumor was noted to be BRAF V600R mutated, the patient was started on single agent dabrafenib. The plasmacytoid morphology can be found in a variety of malignancies. Melanoma should be considered in the differential diagnosis of any malignancy presenting with plasmacytoid features.

  14. Ryanodine receptor mutations presenting as idiopathic ventricular fibrillation: a report on two novel familial compound mutations, c.6224T>C and c.13781A>G, with the clinical presentation of idiopathic ventricular fibrillation.

    Science.gov (United States)

    Paech, Christian; Gebauer, Roman Antonin; Karstedt, Jens; Marschall, Christoph; Bollmann, Andreas; Husser, Daniela

    2014-12-01

    Idiopathic ventricular fibrillation (IVF) is a rare genetically determined disease causing unexpected cardiac death in otherwise healthy individuals. This study identified two novel, functional heterozygous mutations in the ryanodine receptor 2 (RyR2) gene in a family with IVF. In the presented case all the patients received a thorough diagnostic workup to exclude structural heart disease. Blood was drawn from the patients, and genetic testing was performed including amplification and sequencing of splice locations in two exons of the RyR2 gene. The mutations were detected in five symptomatic family members. The genetic status of the five affected family members remains unclear. No clinically affected patient is without mutation. At this writing, one family member with confirmed mutation is asymptomatic. The differentiation between catecholaminergic polymorphic ventricular tachycardia (CPVT) and IVF remains a difficult issue, mainly based on clinical characteristics and gross genetic classification. In our case, the family history, exercise testing, and epinephrine stress testing do not suggest an association of arrhythmia and adrenergic triggers, which makes CPVT rather unlikely despite the fact that genetic testing showed RyR2 mutations. Currently, knowledge concerning the functional meaning of genetic mutations is growing. Future exploration of these functional aspects might give further impetus to allocation of these patients to a specific diagnosis. PMID:24950728

  15. 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.

  16. Sub-Saharan Africa descendents in Rio de Janeiro (Brazil): population and mutational data for 12 Y-STR loci.

    Science.gov (United States)

    Domingues, Patricia Mariana; Gusmão, Leonor; da Silva, Dayse Aparecida; Amorim, António; Pereira, Rinaldo W; de Carvalho, Elizeu F

    2007-05-01

    A male sample of 135 African descendents from the Rio de Janeiro population were typed for the 12 Y-chromosome short tandem repeat (STR) loci included in the PowerPlex Y System. A high haplotype diversity was observed (0.9971), with 91% of haplotypes being unique, demonstrating the usefulness and informative power of this Y-STR set in male lineage identification. Samples with shared haplotypes were additionally typed with the Yfiler kit, which includes five extra markers. The haplotype diversity when using the 17-Yfiler loci increased to (0.9998) with 97% unique haplotypes. The same set of Y-STRs was also typed in 135 father/son pairs and three single-step mutations were observed: one at DYS19 and two at DYS385. Genetic distance analysis showed highly significant differences in all pairwise comparisons between this sample of African descendents and the general population from Rio de Janeiro, as well as with Iberian and African samples from Portugal, Mozambique, Angola and Equatorial Guinea. Comparisons with samples from other regions in Brazil showed that heterogeneity does exist, indicating that a Y-haplotype database for the whole country should take into account the population sub-structure. Moreover, a strong European influence was detected, and thus, a Y-chromosome STR profile proves a rather poor indicator for the ethnic origin of an individual in Rio de Janeiro. PMID:17334737

  17. 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.

  18. A family of RTHβ with p.R316C mutation presenting occasional syndrome of inappropriate secretion of TSH.

    Science.gov (United States)

    Ueda, Yohei; Tagami, Tetsuya; Tamanaha, Tamiko; Kakita, Maiko; Tanase-Nakao, Kanako; Nanba, Kazutaka; Usui, Takeshi; Naruse, Mitsuhide; Shimatsu, Akira

    2015-01-01

    The syndrome of inappropriate secretion of thyrotropin (SITSH) is a hallmark of resistance to thyroid hormone (RTH) due to mutations in the β isoform of the thyroid hormone receptor (TRβ). Here, we report on a family of RTH due to a TRβ mutation (RTHβ) and presenting occasional SITSH. The proband was a 16 year-old girl with a goiter, detected at a school physical examination. She was initially diagnosed as having euthyroid Hashimoto thyroiditis because her thyroid function was normal with a positive anti-thyroglobulin antibody. Follow-up examinations resulted in mild SITSH on some occasions and euthyroid on the other occasions. A magnetic resonance imaging (MRI) revealed a normal pituitary gland. Because her mother also had mild SITSH, genetic analysis was performed and revealed a heterozygous point mutation in TRβ (p.R316C). Previously, the p.R316C had only been found in severe RTH cases with homozygous mutations or with an ectopic thyroid. Her mother with a heterozygous mutation showed variable RTH phenotype on T3 suppression testing. In conclusion, the prevalence of RTHβ might be underestimated and occasional SITSH could also suggest RTHβ. TRβ gene mutation is not always correlated with the RTH phenotype. PMID:25502991

  19. Brazil

    International Nuclear Information System (INIS)

    Technological advances by newly industrialized countries (NICs) have become a central concern of the recent literature on the political economy of development. Striking a fatal blow to dependency thinking, in so far as it had diagnosed a structural barrier to technological development, these countries have absorbed foreign technology and have developed a very impressive domestic technological capacity. Moreover, their exports have evolved from a traditional reliance on raw materials and unprocessed goods to include increasingly sophisticated manufactured goods and technology itself. The capabilities, motivations, and structures behind nuclear exports must be examined in light of these secular trends. This paper reports on this exploratory analysis of the country's emergence as a nuclear supplier which focuses on six major areas: the balance of motivations and constraints underlying Brazil's nuclear export potential; areas of extant capabilities that would allow the country to play a significant role as a nuclear supplier; formal and informal structures beneath nuclear export policy; patterns of nuclear trade as reflected in past transactions; prospects for continuity and change; generalizability of findings to other emerging suppliers

  20. 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...

  1. 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

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

    OpenAIRE

    de Oliveira, R. A.; Moreira, I.S.; F.F. Oliveira

    2013-01-01

    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 leave...

  3. 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

  4. 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.

  5. 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

  6. Reversal of FLT3 mutational status and sustained expression of NPM1 mutation in paired presentation, and relapse samples in a patient with acute myeloid leukemia.

    Science.gov (United States)

    Radojkovic, Milica; Tosic, Natasa; Colovic, Natasa; Ristic, Slobodan; Pavlovic, Sonja; Colovic, Milica

    2012-01-01

    We report a case of de novo acute myeloid leukemia (AML) with unstable FLT3 gene mutations and stable NPM1 mutation. FLT3/D835 and NPM1 (Type A) mutations were detected upon diagnosis. During the relapse, the FLT3/D835 mutation changed to an FLT3/ITD mutation while the NPM1 (Type A) mutation was retained. Cytogenetic analyses showed the normal karyotype at diagnosis and relapse. Our findings raise interesting questions about the significance of these mutations in the leukemogenic process, about their stability during the evolution of the disease, and regarding the selection of appropriate molecular markers for the monitoring of minimal residual disease. PMID:22585616

  7. 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.

  8. 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...

  9. 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...

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

    OpenAIRE

    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...

  11. 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

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

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    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.

  13. 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.

  14. 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.

  15. 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

  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. 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)

  18. 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.

  19. 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

  20. Presentation

    Directory of Open Access Journals (Sweden)

    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

  1. The present status of public acceptance of radioactive waste repositories in Brazil

    International Nuclear Information System (INIS)

    A synthesis of the Brazilian experience in public acceptance of the site for the construction of the permanent radioactive waste repository (Abadia de Goias), emphasizing the positive and negative aspects of the adopted strategies and the current status of the qualification in stimulation techniques to the public acceptance of repositories, one of the tasks of the project BRA/04/055 (Assessing a Site for the Final Disposal of Low- and Medium-Level Radioactive Waste), are discussed and presented. (author)

  2. De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

    Science.gov (United States)

    Laquerriere, Annie; Gonzales, Marie; Saillour, Yoann; Cavallin, Mara; Joyē, Nicole; Quēlin, Chloé; Bidat, Laurent; Dommergues, Marc; Plessis, Ghislaine; Encha-Razavi, Ferechte; Chelly, Jamel; Bahi-Buisson, Nadia; Poirier, Karine

    2016-04-01

    Tubulinopathies are increasingly emerging major causes underlying complex cerebral malformations, particularly in case of microlissencephaly often associated with hypoplastic or absent corticospinal tracts. Fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. We report on an early foetal case with FADS and microlissencephaly due to TUBB2B mutation. Neuropathological examination disclosed virtually absent cortical lamination, foci of neuronal overmigration into the leptomeningeal spaces, corpus callosum agenesis, cerebellar and brainstem hypoplasia and extremely severe hypoplasia of the spinal cord with no anterior and posterior horns and almost no motoneurons. At the cellular level, the p.Cys239Phe TUBB2B mutant leads to tubulin heterodimerization impairment, decreased ability to incorporate into the cytoskeleton, microtubule dynamics alteration, with an accelerated rate of depolymerization. To our knowledge, this is the first case of microlissencephaly to be reported presenting with a so severe and early form of FADS, highlighting the importance of tubulin mutation screening in the context of FADS with microlissencephaly. PMID:26732629

  3. Digital Mobile Planetarium: Lifting astronomical concepts presented by teachers in the city of Caraguatatuba, Brazil

    Science.gov (United States)

    Voelzke, Marcos Rincon; Pereira Gonzaga, Edson

    2015-08-01

    In this work, a survey of alternative conceptions about basic concepts of Astronomy was carried out on the North Coast of São Paulo with 478 people, visitors of the Digital Mobile Planetarium (DMP). Rodolfo Langhi’s thought about alternative conceptions (2005), considered very important, was the base for this study, choosen because it allows to identify these concepts before the intervention methodology, which renders possible to prepare contextualized presentations and helps to propose to teachers - and consequently to students - to compare what they already know with the new information obtained in the sessions at the DMP of the University Cruzeiro do Sul. This is a case study with a quantitative survey and a qualitative analysis of data on astronomical concepts collected through a questionnaire.

  4. 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

  5. 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

    Directory of Open Access Journals (Sweden)

    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.

  6. Present stage of the use of radioactive tracers in studies carried out at Companhia de Tecnologia de Saneamento Ambiental, SP, Brazil, in the field of environmental engineering

    International Nuclear Information System (INIS)

    Studies using radioactive tracers in the field of environmental engineering, carried out at Companhia de Tecnologia de Saneamento Ambiental, SP, Brazil, from 1975 to 1978 are presented. Future research to be developed in this area is also discussed. (M.A.)

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

    Directory of Open Access Journals (Sweden)

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

    Directory of Open Access Journals (Sweden)

    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.

  9. 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

  10. Presentations

    International Nuclear Information System (INIS)

    The presented materials consist of presentations of international workshop which held in Warsaw from 4 to 5 October 2007. Main subject of the meeting was progress in manufacturing as well as research program development for neutron detector which is planned to be placed at GANIL laboratory and will be used in nuclear spectroscopy research

  11. CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome

    OpenAIRE

    Wincent, Josephine; Luthman, Aron; van Belzen, Martine; van der Lans, Christian; Albert, Johanna; Nordgren, Ann; Anderlid, Britt‐Marie

    2015-01-01

    Abstract Rubinstein–Taybi syndrome (RTS) is a rare autosomal dominant congenital disorder characterized by distinctive facial features, broad thumbs and halluces, growth retardation, and a variable degree of cognitive impairment. CREBBP is the major causative gene and mutations in EP300 are the cause of RTS in a minority of patients. In this study, 17 patients with a clinical diagnosis of RTS were investigated with direct sequencing, MLPA, and array‐CGH in search for mutations in these two ge...

  12. Distribution of the PKU mutation 165T in Spain and Latin America

    Energy Technology Data Exchange (ETDEWEB)

    Perez, B.; deLucca, M.; Desviat, L.R. [UAM-CSIC, Madrid (Spain)] [and others

    1994-09-01

    The 165T mutation is the second most common mutation in the Spanish PKU patients. In order to provide some additional data about the origin of this mutation, we have analyzed 452 PKU alleles from all regions of Spain. The mutation was found in 9% of alleles. We have found a South-North gradient with a highest frequency in the South and the lowest in the North. In the North-West regions (which has the greatest Celtic influence in Spain) the frequency was 7%. The chromosomes bearing this mutation contained the 8 repeat VNTR allele, as has been described in other populations. In view of these results, we suggest an origin other than Celtic for this mutation. On the other hand, we have analyzed 406 PKU alleles from five Latin American countries, 158 from Brazil, 170 from Chile, 56 from Argentina, 14 from Mexico and 8 from Venezuela. Unlike the results of the IVS10 mutation, 165T is present in Latin America with a low frequency. The results show that this mutation is rare in Chile (1%) and is absent in the chromosomes analyzed from Argentina, Mexico and Venezuela. Only in Brazil has this mutation been found in 5% of the alleles. Up to now, Spain is the only Mediterranean country where this mutation is present with a relatively high frequency. This mutation has been detected in the Portuguese patients and would also have migrated to Brazil.

  13. 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

  14. Presentations

    International Nuclear Information System (INIS)

    The PARIS meeting held in Cracow, Poland from 14 to 15 May 2007. The main subjects discussed during this meeting were the status of international project dedicated to gamma spectroscopy research. The scientific research program includes investigations of giant dipole resonance, probe of hot nuclei induced in heavy reactions, Jacobi shape transitions, isospin mixing and nuclear multifragmentation. The mentioned programme needs Rand D development such as new scintillations materials as lanthanum chlorides and bromides as well as new photo detection sensors as avalanche photodiodes - such subjects are also subjects of discussion. Additionally results of computerized simulations of scintillation detectors properties by means of GEANT- 4 code are presented

  15. Presentation

    OpenAIRE

    Eduardo Vicente; Rosana de Lima Soares; Eduardo Victorio Morettin

    2013-01-01

    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 ...

  16. CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.

    Science.gov (United States)

    Wincent, Josephine; Luthman, Aron; van Belzen, Martine; van der Lans, Christian; Albert, Johanna; Nordgren, Ann; Anderlid, Britt-Marie

    2016-01-01

    Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant congenital disorder characterized by distinctive facial features, broad thumbs and halluces, growth retardation, and a variable degree of cognitive impairment. CREBBP is the major causative gene and mutations in EP300 are the cause of RTS in a minority of patients. In this study, 17 patients with a clinical diagnosis of RTS were investigated with direct sequencing, MLPA, and array-CGH in search for mutations in these two genes. Eleven patients (64.7%) had disease-causing point mutations or a deletion in CREBBP and in one patient (5.9%) a causal de novo frameshift mutation in EP300 was identified. This patient had broad thumbs, mild intellectual disability, and autism. In addition, an inherited missense mutation of uncertain clinical significance was identified in EP300 in one patient and his healthy father, and three patients had intronic nucleotide changes of uncertain clinical significance in CREBBP. Snoring and sleep apnea were common in both groups and four of the patients' mothers had preeclampsia during pregnancy. Importantly, difficulties associated with anesthesia were frequently reported and included delayed or complicated emergency in 53.3% of patients. PMID:26788536

  17. 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.

  18. Presentation

    Directory of Open Access Journals (Sweden)

    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.

  19. Presentation

    Directory of Open Access Journals (Sweden)

    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

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

    Directory of Open Access Journals (Sweden)

    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.

  1. A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences.

    Science.gov (United States)

    Shea, Yat-Fung; Chu, Leung-Wing; Chan, Angel On-Kei; Ha, Joyce; Li, Yan; Song, You-Qiang

    2016-02-01

    There are great diversities of clinical phenotypes among the various familial Alzheimer's disease (FAD) families. We aimed to systematically review all the previously reported cases of FAD and to perform comparisons between Asian and white patients. In this regard, we collected individual-level data from 658 pedigrees. We found that patients with presenilin 1 (PSEN1) mutations had the earliest age of onset (AOO; 43.3 ± 8.6 years, p personality change (p = 0.01) but less frequently with atypical clinical features. Asian patients with APP mutations presented less frequently with aphasia (p = 0.02). Thus, clinical features could be modified by underlying mutations, and Asian FAD patients may have different clinical features when compared with whites. PMID:26337232

  2. 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.)

  3. 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...

  4. Shift in GATA3 functions, and GATA3 mutations, control progression and clinical presentation in breast cancer

    OpenAIRE

    Cohen, Helit; Ben-Hamo, Rotem; Gidoni, Moriah; Yitzhaki, Ilana; Kozol, Renana; Zilberberg, Alona; Efroni, Sol

    2014-01-01

    Introduction GATA binding protein 3 (GATA3) is a regulator of mammary luminal cell differentiation, and an estrogen receptor (ER) associated marker in breast cancer. Tumor suppressor functions of GATA3 have been demonstrated primarily in basal-like breast cancers. Here, we focused on its function in luminal breast cancer, where GATA3 is frequently mutated, and its levels are significantly elevated. Methods GATA3 target genes were identified in normal- and luminal cancer- mammary cells by ChIP...

  5. 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

  6. Paleomagnetism and geochronology of mafic dikes from the regions of Salvador, Olivenca and Uaua, Sao Francisco craton, Brazil: present stage of the USP/Princeton University collaboration

    International Nuclear Information System (INIS)

    The purpose of the USP/Princeton University collaboration project is a paleomagnetic and geochronological study of Precambrian metamorphic units and anorogenic Proterozoic intrusives from selected areas in Brazil. The Instituto Astronomico e Geofisico of the Universidade de Sao Paulo has been carrying out the paleomagnetic analyses whereas geochronological determinations using the sup(40)Ar/ sup(39)Ar method are being made at Princeton University with the collaboration of the Instituto de Geociencias of USP. The present status of the paleomagnetic and geochronological studies of these rocks is presented here, including results obtained up to now and an analysis of paleogeographic and geotectonic implications. (author)

  7. 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 ...

  8. Land-use planning and management in Brazil: A brief review of present experience and environmental problems

    Science.gov (United States)

    Penha, Helio M.

    The situation briefly described here shows the consequences which arise from rapid urban growth in areas with complex environmental features, in which the existing delicate balance can easily be disturbed as a result of ill-planned development. Many parts of Brazil, particulary the metropolitan regions in the southeastern part of the country, suffer the types of environmental problems commented above. In areas with low density of population, such as parts of the Amazonia, the degradation is also intense and the destruction of the forests is bringing about important modifications in the climatic, geomorphological and geochemical processes. Although the existing legislation is, in theory, adequate, the actual application and enforcement of the laws and regulations leaves much to be desired. Profound cultural changes, both at the level of the authorities and of the general population, are needed to bring about a more careful approach in the use of the environment.

  9. 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

  10. Screening Fusarium wilt-resistant plants of Brazil banana (Musa spp., AAA) through EMS induced mutations from microcross sections cultural system

    International Nuclear Information System (INIS)

    Fusarium wilt is recognized as one of the most destructive diseases of banana worldwide. In this study, we screened Fusarium wilt-resistant plants of Brazil banana (Musa spp., AAA.) through EMS induced mutations from micro-cross sections cultural system. Micro-cross sections of pseudo stem of In vitro banana plantlets were treated with various concentrations of EMS for different duration, then were cultured in shoots induction medium. The results indicated that the survival index and the shoot forming index of the explants dropped with the increasing of EMS concentration and treatment duration. The optimal treatment for the concentration and duration was 300 mM and 60 min respectively. After the optimal treatment for 21 days, 2.2 regenerated shoots averagely could be produced from the explants of micro-cross sections, and the regenerated shoots were then cultured in shoots multiplying medium for 7 days. The stronger shoots were selected and transferred into roots medium for 4 weeks to obtain healthy regenerated plantlets. Hardened-regenerated plantlets were transplanted in green house for 2 months and 100 regenerated plants with vigorous root systems were selected for screening for Fusarium wilt resistance by using early screening technique. The initial disease symptom, yellowing in lower leaves, of susceptible plantlets could be observed after 2 weeks of inoculation with FOC race 4 and the extensive streaking on the most leaves was appeared after 2 months of inoculation. Only five plantlets survived and grew up healthily, which might be putative Fusarium wilt-resistant plants. Five sucks were selected from these 7-month-old putative resistant plants for screening the tolerance again and two suck- plants showed to be Fusarium wilt-resistant. Further studies on the Fusarium wilt tolerance of next generation of tissue cultural plants derived from these sucks and their genetic background are conducting. We concluded that the application of microcross sections of

  11. 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)

  12. 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

  13. 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)

  14. 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.

  15. 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. PMID:24115482

  16. 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

  17. 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...

  18. [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

  19. 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.

  20. 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.

  1. 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

  2. Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene

    Czech Academy of Sciences Publication Activity Database

    Ezgu, F.; Krejčí, Pavel; Wilcox, W. R.

    2013-01-01

    Roč. 524, č. 2 (2013), s. 403-406. ISSN 0378-1119 Institutional support: RVO:68081707 Keywords : Fumaric aciduria * Novel mutation * Leiomyoma Subject RIV: BO - Biophysics Impact factor: 2.082, year: 2013

  3. 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.

  4. 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

  5. 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.

  6. 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

  7. 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

    OBJECTIVE: Heterozygous mutations in the human preproinsulin (INS) gene are a cause of nonsyndromic neonatal or early-infancy diabetes. Here, we sought to identify INS mutations associated with maturity-onset diabetes of the young (MODY) or nonautoimmune diabetes in mid-adult life, and to explore...... 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 ... 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...

  8. 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...

  9. 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.

  10. Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene.

    Science.gov (United States)

    Ezgu, Fatih; Krejci, Pavel; Wilcox, Wiliam R

    2013-07-25

    Mutations in the FH gene cause the deficiency of the enzyme fumarase (fumarate hydratase, EC 4.2.1.2) which result in autosomal recessive fumaric aciduria in early childhood with failure to thrive, seizures, developmental delay, mental retardation, hypotonia and sometimes with polycythemia, leukopenia, and neutropenia. Many children with fumarate hydratase deficiency do not survive infancy or childhood; those surviving beyond childhood have severe psychomotor retardation. Recently, FH gene was also identified as a "non-classical" tumor suppressor gene and heterozygous mutations were shown to cause multiple cutaneous and uterine leiomyomas as well as hereditary leiomyomatosis and renal cell cancer. A male patient who was referred to investigate the etiology of psychomotor retardation was later diagnosed to have fumaric aciduria due to the combination of a previously known (c.1431_1433dupAAA) and a novel (c.782G>T) mutation. The patient had an unusually mild clinical course without acidotic attacks. Interestingly his father who was heterozygous for the c.1431_1433dupAAA mutation in the FH gene had cutaneous leiomyoma. PMID:23612258

  11. 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

  12. 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.

  13. 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.

  14. Familial hypercholesterolemia in Brazil.

    Science.gov (United States)

    Dos Santos, J E; Zago, M A

    2003-11-01

    The Brazilian population has heterogeneous ethnic origins and is unevenly distributed in a country of continental dimensions. In addition to the Portuguese colonists until the end of the World War II Brazil received almost 5 million immigrants who settled mainly in the south and southeast. This features of the Brazilian population have two important consequences for the inherited diseases that are associated with an ethnic background: their frequencies are different in various regions of the country reflecting a variety of ethnic origins and variable degrees of admixtures. There was no report about the molecular basis of hypercholesterolemia in Brazil until our report in 1996 that the Lebanese allele is the most common cause of the disease in our country: 10 out of the 30 families were of Arab origin, and the Lebanese allele was detected in 9 of the 10 unrelated families of Arab origin. In addition, the abnormal gene is associated with the same haplotype at the LDL-R locus in all but one family, suggesting single origin for this mutation. Recently we described seven mutations in exons 4, 7, 12 and 14 and a new mutation in exon 15. In another region of our state, eight mutation already described and seven new mutations were described and interesting no common mutations were find. We can conclude that the complex history and structure of the Brazilian population, which was formed by the contribution of a large number of ethnic components that are in a state of increasing miscegenation, is reflected in the frequency and regional distribution of the more common hereditary diseases. PMID:14615271

  15. 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...

  16. 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...

  17. 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

  18. 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.

  19. 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.

  20. 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

  1. 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.

  2. 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

  3. 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

  4. Allelopathic research in Brazil

    OpenAIRE

    Manuel Reigosa; Anabele Stefânia Gomes; Alfredo Gui Ferreira; Fabian Borghetti

    2013-01-01

    In this article, we review allelopathy studies conducted in Brazil or involving plant species that occur in the country. Conceptions and misconceptions associated with allelopathy, as well as some international criteria to be applied in allelopathic research, are presented and discussed. We observed a sharp increase in the number of papers on this subject conducted in Brazil between 1991 and 2010. However, most studies are conducted under laboratory conditions, lack a clear hypothesis or a so...

  5. 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

  6. 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.)

  7. 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.

  8. Uranium deposits of Brazil

    International Nuclear Information System (INIS)

    Brazil is a country of vast natural resources, including numerous uranium deposits. In support of the country's nuclear power program, Brazil has developed the most active uranium industry in South America. Brazil has one operating reactor (Angra 1, a 626-MWe PWR), and two under construction. The country's economic challenges have slowed the progress of its nuclear program. At present, the Pocos de Caldas district is the only active uranium production. In 1990, the Cercado open-pit mine produced approximately 45 metric tons (MT) U3O8 (100 thousand pounds). Brazil's state-owned uranium production and processing company, Uranio do Brasil, announced it has decided to begin shifting its production from the high-cost and nearly depleted deposits at Pocos de Caldas, to lower-cost reserves at Lagoa Real. Production at Lagoa Real is schedules to begin by 1993. In addition to these two districts, Brazil has many other known uranium deposits, and as a whole, it is estimated that Brazil has over 275,000 MT U3O8 (600 million pounds U3O8) in reserves

  9. 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.

  10. 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

  11. 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.

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

    OpenAIRE

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

    2016-01-01

    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 seque...

  13. 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

  14. 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.

  15. 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.

  16. 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)

  17. Compostos funcionais presentes em bulbilhos de alhos armazenados sob refrigeração, provenientes de cultivos no Brasil e na China Functional compounds present in garlic cloves stored under refrigeration from crops in Brazil and China

    Directory of Open Access Journals (Sweden)

    Ester Yoshie Yosino da Silva

    2010-12-01

    Full Text Available O objetivo desta pesquisa foi determinar o teor de compostos funcionais presentes em bulbilhos de alho das cultivares 'Caçador' e 'Peruano', originárias do Brasil, e da cultivar 'Jinxiang', proveniente da China, durante o armazenamento pós-colheita até sessenta dias. O delineamento experimental utilizado foi o inteiramente casualizado, em esquema fatorial 3x5 (três cultivares de alho x 5 períodos de armazenagem, com três repetições, sendo a unidade experimental composta por 10 bulbos de alho. Os bulbos foram armazenados à temperatura de 22±1°C e umidade relativa de 70±2% e analisados quinzenalmente para teores de alicina, compostos fenólicos e atividade antioxidante pelo sistema -caroteno/ácido linoléio. De maneira geral, verificou-se que as propriedades funcionais das cultivares de alho estudadas foram alteradas durante o armazenamento. O perfil dos teores de alicina não foi alterado no período de armazenamento para a cultivar 'Caçador'. Entretanto, o perfil foi de degradação do bioativo aos 45 e 15 dias de armazenamento para as cultivares 'Peruano' e 'Jinxiang', respectivamente. O potencial antioxidante, medido pelo sistema -caroteno/ácido linoléico para as cultivares 'Caçador' e 'Jinxiang', foi superior em relação à cultivar 'Peruano', no início da avaliação. O perfil para todas as cultivares foi de redução do potencial, sendo que, a partir dos 30 dias de avaliação, deixou-se de observar essas diferenças. Quanto ao conteúdo de compostos fenólicos totais, observaram-se maiores teores para a cultivar 'Jinxiang' em relação às cultivares 'Caçador' e 'Peruano' no início da avaliação. Todas as cultivares apresentaram aumento significativo a partir dos 15 dias de avaliação. Portanto, as cultivares de alho avaliadas possuem atividade antioxidante, proveniente dos compostos organossulfurados e compostos fenólicos, a qual foi alterada com o armazenamento refrigerado.The objective of the present research

  18. Diphyllobothriasis, Brazil

    OpenAIRE

    Sampaio, Jorge Luiz Mello; Piana de Andrade, Victor; Lucas, Maria da Conceição; Fung, Liang; Gagliardi, Sandra Maria B.; Santos, Sandra Rosalem P.; Mendes, Caio Marcio Figueiredo; Eduardo, Maria Bernadete de Paula; Dick, Terry

    2005-01-01

    Cases of human diphyllobothriasis have been reported worldwide. Only 1 case in Brazil was diagnosed by our institution from January 1998 to December 2003. By comparison, 18 cases were diagnosed from March 2004 to January 2005. All patients who became infected ate raw fish in sushi or sashimi.

  19. Variants of the HNF1α gene: a molecular approach concerning diabetic patients from southern Brazil

    OpenAIRE

    Naieli Bonatto; Viviane Nogaroto; Svidnicki, Paulo V.; Milléo, Fábio Q.; Sabrina Grassiolli; Almeida, Mara C.; Marcelo R. Vicari; Artoni, Roberto F.

    2012-01-01

    Maturity Onset Diabetes of the Young (MODY) presents monogenic inheritance and mutation factors which have already been identified in six different genes. Given the wide molecular variation present in the hepatocyte nuclear factor-1α gene (HNF1α) MODY3, the aim of this study was to amplify and sequence the coding regions of this gene in seven patients from the Campos Gerais region, Paraná State, Brazil, presenting clinical MODY3 features. Besides the synonymous variations, A15A, L17L, Q141Q, ...

  20. 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...

  1. 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)

  2. 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.

  3. 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)

  4. 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).

  5. 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...

  6. 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

  7. 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.

  8. 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 ...... 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....

  9. 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

  10. Brazil; Selected Issues Paper

    OpenAIRE

    International Monetary Fund

    2015-01-01

    This Selected Issues paper examines infrastructure investment in Brazil. Brazil has inferior overall infrastructure quality relative to almost all its export competitors. Brazil’s infrastructure endowment ranks low by international standards, and its low quality affects productivity, market efficiency, and competitiveness. Areas in which Brazil’s competitiveness has lagged include, but are not limited to, education, innovation, governance, and justice. Brazil’s infrastructure gap has be...

  11. Assessment of high resolution melt analysis feasibility for evaluation of beta-globin gene mutations as a reproducible, cost-efficient and fast alternative to the present conventional method

    Science.gov (United States)

    Ramezanzadeh, Mahboubeh; Salehi, Mansour; Salehi, Rasoul

    2016-01-01

    Background: Beta-thalassemia is the most prevalent monogenic disease throughout the world. It was the first genetic disorder nominated for nation-wide prevention programs involving population screening for heterozygotes and prenatal diagnosis (PND) in Iran. Due to the high prevalence of beta-thalassemia, the shift from conventional mutation detection methods to more recently developed techniques based on novel innovative technologies are essential. We aimed to develop a real-time polymerase chain reaction (PCR) based protocol using high resolution melting (HRM) analysis for diagnosis of common beta-thalassemia mutations. Materials and Methods: Forty DNA samples extracted from peripheral blood of suspected beta-thalassemia carriers participated in this study were subjected to amplification refractory mutation system (ARMS). We then used 20 of these samples for HRM optimization. When 100% sensitivity and specificity was obtained with HRM procedure, we applied the technique for mutation detection on another remaining 20 samples as thalassemia cases with unknown mutations (detected mutations with ARMS-PCR kept confidential). Finally, the HRM procedure applied on 2 chorionic villous sample (CVS) biopsied from 12 weeks gestational age pregnant women for routine PND analysis. Results: In the first step of study, Fr 8/9 (+G), IVSI-1 (G > A), IVSI-5 (G > C), IVSI-110 (G > A), and CD44 (−C) mutations were diagnosed in samples under study using ARMS-PCR technique. Finally, the HRM procedure applied on 20 unknown samples and 2 CVS The results of HRM were in complete concordance with ARMS and confirmed by sequencing. Conclusions: The advantages of HRM analysis over conventional methods is high throughput, rapid, accurate, cost-effective, and reproducible. PMID:27169102

  12. 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.

  13. 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...

  14. Astronomy in Brazil

    Science.gov (United States)

    Barbuy, Beatriz; Maciel, Walter J.

    2013-01-01

    A historical background combined with political decisions along time explain the increasing importance of Brazil in the world's astronomical scenario. Professional astronomy was triggered in the late sixties and early seventies by the two main historical institutions then existing (ON and IAG/USP), together with the creation of agencies for research and combined with individual actions. There are presently 670 astronomers working in the country, including permanent jobs and graduate students. A brief description of observational facilities and plans to increase access to other facilities is presented.

  15. Datafile: Brazil

    International Nuclear Information System (INIS)

    There is as yet little to show for the enormous investment made by Brazil over the past 20 years in nuclear power and the fuel cycle. The only nuclear power plant (657MWe PWR) in operation has had a poor performance record and the two reactors (1309MWe PWRs) under construction are more than ten years behind the original schedule. Aspirations of building commercial fuel cycle facilities have proved extremely optimistic. In the latest reorganization of the industry, the construction and operation of nuclear power stations is entrusted to the national utility and the various civilian/military R and D efforts in the fuel cycle are being integrated under civilian supervision. This should lead to greater accountability and efficiency in the future. (author)

  16. Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa–Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Conforti R

    2014-01-01

    Full Text Available Renata Conforti,1 Mario Cirillo,2 Valeria Marrone,1 Rosario Galasso,1 Guglielmo Capaldo,3 Teresa Giugliano,4 Assunta Scuotto,1 Giulio Piluso,4 Mariarosa AB Melone3,51Neuroradiology Unit, Department of Clinical and Experimental Medicine and Surgery, 2Radiology Unit, Department of Medical, Surgical, Neurological, Metabolic and Aging Sciences, 3Division of Neurology, Department of Clinical and Experimental Medicine and Surgery, 4Department of Biochemistry, Biophysics and General Pathology, School of Medicine, Second University of Naples, Naples, Italy; 5Institute of Protein Biochemistry, National Research Council, Naples, ItalyAbstract: Neurofibromatosis type 1 (NF1 is a relatively common single-gene disorder, and is caused by heterozygous mutations in the NF1 gene that result in a loss of activity or in a nonfunctional neurofibromin protein. Despite the common association of NF1 with neurocutaneous features, its pathology can extend to numerous tissues not derived from the neural crest. Among the rare cerebrovascular abnormalities in NF1, more than 85% of cases are of purely occlusive or stenotic nature, with intracranial aneurysm being uncommon. Predominantly, the aneurysms are located in the internal carotid arteries (ICAs, being very rare bilateral aneurysms. This report describes a very unusual case of fusiform aneurysms of both ICAs in a Caucasian NF1 patient, with a new pathogenic intragenic heterozygous deletion of the NF1 gene, presenting at age 22 years with Tolosa–Hunt syndrome, because of partial thrombosis of the left giant intracavernous aneurysm. Medical treatment with anticoagulant therapy allowed a good outcome for the patient. In conclusion, early identification of cerebral arteriopathy in NF1 and close follow-up of its progression by neuroimaging may lead to early medical or surgical intervention and prevention of significant neurologic complications.Keywords: neurofibromatosis type 1, NF1 gene, multiplex ligation

  17. 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

  18. 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

  19. 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

  20. Mutation breeding newsletter. No. 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

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. Mutation breeding newsletter. No. 6

    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

  15. 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

  16. 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

  17. 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

  18. Mutation breeding newsletter. No. 1

    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

  19. 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

  20. 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

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. Dynamical Mutation of Dark Energy

    OpenAIRE

    Abramo, L. R.; Batista, R. C.; 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.

  11. 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

  12. 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

  13. Signatures of mutational processes in human cancer

    Science.gov (United States)

    Alexandrov, Ludmil B.; Nik-Zainal, Serena; Wedge, David C.; Aparicio, Samuel A.J.R.; Behjati, Sam; Biankin, Andrew V.; Bignell, Graham R.; Bolli, Niccolo; Borg, Ake; Børresen-Dale, Anne-Lise; Boyault, Sandrine; Burkhardt, Birgit; Butler, Adam P.; Caldas, Carlos; Davies, Helen R.; Desmedt, Christine; Eils, Roland; Eyfjörd, Jórunn Erla; Foekens, John A.; Greaves, Mel; Hosoda, Fumie; Hutter, Barbara; Ilicic, Tomislav; Imbeaud, Sandrine; Imielinsk, Marcin; Jäger, Natalie; Jones, David T.W.; Jones, David; Knappskog, Stian; Kool, Marcel; Lakhani, Sunil R.; López-Otín, Carlos; Martin, Sancha; Munshi, Nikhil C.; Nakamura, Hiromi; Northcott, Paul A.; Pajic, Marina; Papaemmanuil, Elli; Paradiso, Angelo; Pearson, John V.; Puente, Xose S.; Raine, Keiran; Ramakrishna, Manasa; Richardson, Andrea L.; Richter, Julia; Rosenstiel, Philip; Schlesner, Matthias; Schumacher, Ton N.; Span, Paul N.; Teague, Jon W.; Totoki, Yasushi; Tutt, Andrew N.J.; Valdés-Mas, Rafael; van Buuren, Marit M.; van ’t Veer, Laura; Vincent-Salomon, Anne; Waddell, Nicola; Yates, Lucy R.; Zucman-Rossi, Jessica; Futreal, P. Andrew; McDermott, Ultan; Lichter, Peter; Meyerson, Matthew; Grimmond, Sean M.; Siebert, Reiner; Campo, Elías; Shibata, Tatsuhiro; Pfister, Stefan M.; Campbell, Peter J.; Stratton, Michael R.

    2013-01-01

    All cancers are caused by somatic mutations. However, understanding of the biological processes generating these mutations is limited. The catalogue of somatic mutations from a cancer genome bears the signatures of the mutational processes that have been operative. Here, we analysed 4,938,362 mutations from 7,042 cancers and extracted more than 20 distinct mutational signatures. Some are present in many cancer types, notably a signature attributed to the APOBEC family of cytidine deaminases, whereas others are confined to a single class. Certain signatures are associated with age of the patient at cancer diagnosis, known mutagenic exposures or defects in DNA maintenance, but many are of cryptic origin. In addition to these genome-wide mutational signatures, hypermutation localized to small genomic regions, kataegis, is found in many cancer types. The results reveal the diversity of mutational processes underlying the development of cancer with potential implications for understanding of cancer etiology, prevention and therapy. PMID:23945592

  14. 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

  15. An overview on small hydro in Brazil

    International Nuclear Information System (INIS)

    An overview of small-scale hydro development in Brazil was presented in the context of the Brazilian energy sector. Brazil's energy sector is currently comprised of 45 per cent renewable energy. Brazil is the tenth largest energy producer in the world, with an installed capacity of 105.986 MW. Brazil currently has an estimated 258.410 MW of hydroelectric power potential. Small hydropower (SHP) plants in Brazil are defined as plants capable of producing up to 30 MW of power, with a reservoir area smaller than 12 km2. It is estimated that SHP plants will provide 5 per cent of Brazil's electrical supply by 2030. SHP plants in Brazil typically use Kaplan and Pelton hydraulic turbines, as well as Michell-Banki cross-flow turbines. Hydrokinetic turbine prototypes are also being designed at the Federal University of Brazil. Researchers are currently developing a diffuser enhancement design. However, there are currently no designs available that use peripheric generators. Researchers are currently investigating the design of fish-friendly turbines as well as mobile dams. Development projects in the Amazon region were outlined. tabs., figs.

  16. 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

  17. 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)

  18. 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.

  19. 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.)

  20. Waste management in Brazil

    International Nuclear Information System (INIS)

    The waste management policies set up in developed countries have in general been used by other countries with less experience in the nuclear field as the basis for developing waste disposal rules or guidelines according to their particular political, social and economic conditions. The waste management question became a main concern in Brazil during the licensing period of the Angra I nuclear power plant and the other fuel cycle facilities envisaged under the Agreement between Brazil and the Federal Republic of Germany. Before the Angra I licensing period, all final waste products arising from nuclear activities were released into the environment because their radioactive levels were below the standard limits. The Research, Development and Demonstration (RDD) Project initiated by the National Nuclear Energy Commission has the purpose to provide information that may contribute to the formulation of recommendations for a waste disposal policy, as well as to demonstrate the feasibility of the Brazilian waste disposal concept. The paper briefly describes the waste management policy in some countries, their contributions to the studies carried out in the RDD Project, and the recommendations and mechanisms for implementing the waste management proposal, and presents general information concerning the Brazilian repository concept. (author). 9 refs, 1 fig

  1. 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.

  2. Mitochondrial DNA control region polymorphism in the population of Alagoas state, north-eastern Brazil.

    Science.gov (United States)

    Barbosa, Adriana B G; da Silva, Luiz Antonio F; Azevedo, Dalmo A; Balbino, Valdir Q; Mauricio-da-Silva, Luiz

    2008-01-01

    The sequences of the two hypervariable (HV) segments of the mitochondrial DNA (mtDNA) control region were determined in 167 randomly selected, unrelated individuals living in the state of Alagoas, north-eastern Brazil. One hundred and forty-five different haplotypes, associated with 139 variable positions, were determined. More than 95% of the mtDNA sequences could be allocated to specific mtDNA haplogroups according to the mutational motifs. Length heteroplasmy in the C-stretch HV1 and HV2 regions was observed in 22 and 11%, respectively, of the population sample. The genetic diversity was estimated to be 0.9975 and the probability of two random individuals presenting identical mtDNA haplotypes was 0.0084. The most frequent haplotype was shared by six individuals. All sequences showed high-quality values and phantom mutations were not detected. The diversity revealed in the mitochondrial control region indicates the importance of this locus for forensic casework and population studies within Alagoas, Brazil. PMID:18279250

  3. Agriculture Oral Presentations

    International Nuclear Information System (INIS)

    This publication contains 23 papers related to the use of nuclear techniques in plant breeding in Turkey, effect of gamma irradiations on growing various plants, mutations and soil chemistry, etc., presented at 4. International Congress of Nuclear Agriculture and Animal Science in Bursa, Turkey, 25-27 Sep 1996. A separate abstract was prepared for each paper

  4. 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.

  5. 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 ...

  6. Mutation breeding of ornamental plants

    Energy Technology Data Exchange (ETDEWEB)

    Yamaguchi, Takashi

    1988-03-01

    The outline of registered ornamental cultivars bred up by mutation breeding, the applied methods, and the radiosensitivity of air-dried seeds among ornamental plants are described. The mutation breeding of ornamental plants has not yet become a familiar means like cross breeding or line separation. But the number of the cultivars bred up by mutation breeding reached more than 270, and took a relatively large proportion of about 40 % of the agronomic cultivars bred up by mutation breeding in the world. The number of the species to which those improved cultivars belong is only 22. Considering the abundance of ornamental plant species and the successful results of mutation breeding in this field, mutation breeding techniques will be applied to many species which remain in the rudimentary stage or have never tried them. It is hoped that the information presented in this paper contributes to the promising future of ornamental plant breeding as the suggestion. Especially in ornamental plants, many spontaneously occurred novel mutants have been sought and treasured for a long time. Such mutants actually enriched the variety of flower colors, shapes and many other important characters required for being ornamentally valuable. (Kako, I.).

  7. 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)

  8. 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...

  9. Molecular characterization of adenoviruses from children presenting with acute respiratory disease in Uberlândia, Minas Gerais, Brazil, and detection of an isolate genetically related to feline adenovirus

    Directory of Open Access Journals (Sweden)

    Lysa Nepomuceno Luiz

    2010-08-01

    Full Text Available Human adenoviruses (HAdV are a major cause of acute respiratory diseases (ARD, gastroenteritis, conjunctivitis and urinary infections. Between November 2000-April 2007, a total of 468 nasopharyngeal aspirate samples were collected from children with ARD at the Clinics Hospital of Uberlândia. These samples were tested by immunofluorescence assay (IFA and 3% (14/468 tested positive for the presence of HAdV. By performing polymerase chain reaction (PCR to detect HAdV DNA in samples that tested negative or inconclusive for all viruses identifiable by IFA (respiratory syncytial virus, parainfluenza viruses 1, 2 and 3, influenza viruses A and B and HAdV, as well as negative for rhinoviruses by reverse transcription-PCR, additional 19 cases were detected, for a total of 33 (7.1% HAdV-positive samples. Nucleotide sequences of 13 HAdV samples were analyzed, revealing that they belonged to species B, C and E. Further analyses showed that species C (HAdV-2 was the most prevalent among the sequenced samples. To our knowledge, this is the first report describing the presence of HAdV-4 in Brazil. We also detected an isolate that was 100% identical to a part of the feline adenovirus hexon gene sequence.

  10. 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.

  11. Rates of spontaneous mutation among RNA viruses.

    OpenAIRE

    Drake, J W

    1993-01-01

    Simple methods are presented to estimate rates of spontaneous mutation from mutant frequencies and population parameters in RNA viruses. Published mutant frequencies yield a wide range of mutation rates per genome per replication, mainly because mutational targets have usually been small and, thus, poor samples of the mutability of the average base. Nevertheless, there is a clear central tendency for lytic RNA viruses (bacteriophage Q beta, poliomyelitis, vesicular stomatitis, and influenza A...

  12. ''In vivo'' methodology for mutation induction in banana, cultivar ''Maca''

    International Nuclear Information System (INIS)

    Full text: The ''Maca'' cultivar is a banana of high acceptability in the south west of Brazil. However, it is very susceptible to several diseases. Due to the difficulties in the application of the traditional plant breeding methods, the Radiation Genetics Section of CENA is utilising the ''in vivo'', and the ''in vitro'' mutation breeding approach. The ''in vivo'' methodology is based on the work of HAMILTON. This method is being utilised in Brazil for rapid banana propagation. Rhizomes (20 cm diameter) were obtained from young field grown plants before flower differentiation. In these rhizomes, only 5-6 leaf sheaths were retained, the others being removed. The rhizomes were maintained in a greenhouse in boxes with vermiculite, covered with plastic. After one week, all leaf sheaths were removed, until the exposure of the meristematic apex with about 2 mm size. This apex was cut off with a scalpel and a cross shaped cut (2,5 cm) was made. This stimulates the development of lateral buds. After four months, the meristematic apices of these new buds were cut off in the same way and immediately the rhizomes were irradiated with gamma rays. Around the eliminated lateral buds callus developed and new lateral buds were formed. The LD50 in relation to the number of these new buds produced was around 30 Gy. According to the author of the original method, from the callus one can obtain axillary or adventitious buds. In the early stages it is possible, based on the shape, to distinguish both types. The advantage of utilising adventitious buds originating from only one cell to avoid chimerism is well known in mutation breeding. However, it is not certain whether this is the case in the present method. After detachment from rhizomes and rooting in soil, plants with 15-20 cm height were inoculated with Fusarium oxysporum f.sp. cubense. After 3 weeks the plants showed symptoms of the Panama disease and screening could be done at this stage. The total time between the removal of

  13. Uranium enrichment by jet nozzle separation process in the German-Brazil cooperation program

    International Nuclear Information System (INIS)

    It presents a lecture on technical and commercial aspects of uranium isotopic enrichment by the Get Lozzle Method in Brazil. The analysis is presented regarding the context of bilateral agreement German-Brazil it discusses the technical problems of a demonstration plant design as well as the commercial exportation viability of enriched uranium produced in Brazil by the Jet Nozzle Method. (author)

  14. 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.

  15. 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)

  16. Spherical tokamak development in Brazil

    International Nuclear Information System (INIS)

    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)

  17. 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.

  18. 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

  19. 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.

  20. 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...

  1. Deletion mutations of bacteriophage

    International Nuclear Information System (INIS)

    Resolution of mutation mechanism with structural changes of DNA was discussed through the studies using bacteriophage lambda. One of deletion mutations inductions of phage lambda is the irradiation of ultraviolet ray. It is not clear if the inductions are caused by errors in reparation of ultraviolet-induced damage or by the activation of int gene. Because the effective site of int gene lies within the regions unnecessary for existing, it is considered that int gene is connected to deletion mutations induction. A certain system using prophage complementarity enables to detect deletion mutations at essential hereditary sites and to solve the relations of deletion mutations with other recombination system, DNA reproduction and repairment system. Duplication and multiplication of hereditary elements were discussed. If lambda deletion mutations of the system, which can control recombination, reproduction and repairment of added DNA, are constructed, mutations mechanism with great changes of DNA structure can be solved by phage lambda. (Ichikawa, K.)

  2. 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.

  3. 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…

  4. 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.)

  5. Population structure and virulence of Toxoplasma gondii in Brazil

    Science.gov (United States)

    Recent studies found that the isolates of T. gondii from Brazil are biologically and genetically different from those in North America and Europe. However, so far only a small number of isolates were analyzed from different animal hosts in Brazil. In the present study DNA samples of 46 T. gondii iso...

  6. Brazil : Eradicating Child Labor in Brazil

    OpenAIRE

    World Bank

    2001-01-01

    The report reviews evidence of child labor in Brazil, and the Government's efforts to eradicate its worst forms, by examining background assessments of ongoing programs for its prevention. It seeks to identify promising strategies, addressing the needs of highly vulnerable children in urban areas, engaged in activities such as drug commerce, prostitution, or other dangerous activities. One...

  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. 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.

  9. 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.

  10. 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.

  11. 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...

  12. 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.

  13. Fast reactor research activities in Brazil

    International Nuclear Information System (INIS)

    Fast reactor activities in Brazil have the objective of establishing a consistent knowledge basis which can serve as a support for a future transitions to the activities more directly related to design, construction and operation of an experimental fast reactor, although its materialization is still far from being decided. Due to the present economic difficulties and uncertainties, the program is modest and all efforts have been directed towards its consolidation, based on the understanding that this class of reactors will play an important role in the future and Brazil needs to be minimally prepared. The text describes the present status of those activities, emphasizing the main progress made in 1996. (author)

  14. In vitro mutation induction for resistance to Fusarium wilt in the banana

    International Nuclear Information System (INIS)

    In Brazil, which is one of the world's principal banana production regions, almost all production is consumed within the country. Consumers show high preference for the cultivar Maca (AAB group). However, it is becoming increasingly difficult to produce bananas of this type because of their high susceptibility to Fusarium wilt, caused by Fusarium oxysporum f. sp. cubense. Sexual breeding, which consists of recombination and selection, is limited in the banana because of polyploidy and sterility. Spontaneous somatic mutations are an important source of new cultirvars, and mutation breeding might be particularly important to generate genetic variation. Because of this, the mutation breeding approach has been used in Brazil. The objective of this research was to induce gamma ray mutations for resistance or to increase the level of tolerance to Fusarium wilt in the banana cultivar Maca on the basis of screening under field conditions. 4 refs

  15. 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.)

  16. 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.

  17. Effective Temperature of Mutations

    Science.gov (United States)

    Derényi, Imre; Szöllősi, Gergely J.

    2015-02-01

    Biological macromolecules experience two seemingly very different types of noise acting on different time scales: (i) point mutations corresponding to changes in molecular sequence and (ii) thermal fluctuations. Examining the secondary structures of a large number of microRNA precursor sequences and model lattice proteins, we show that the effects of single point mutations are statistically indistinguishable from those of an increase in temperature by a few tens of kelvins. The existence of such an effective mutational temperature establishes a quantitative connection between robustness to genetic (mutational) and environmental (thermal) perturbations.

  18. 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...

  19. 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

  20. 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.

  1. 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

  2. Environmental strategic evaluation (ESE) as an instrument for environmental management in Brazil: the case of Bolivia - Brazil gas pipeline (GASBOL); Avaliacao ambiental estrategica (AAE) como instrumento de gestao ambiental no Brasil: o caso do gasoduto Bolivia - Brasil (GASBOL)

    Energy Technology Data Exchange (ETDEWEB)

    Guimaraes, Lucy Teixeira; Veiga, Lilian Bechara Elabras [Universidade Federal (UFRJ), Rio de Janeiro, RJ (Brazil). Coordenacao dos Programas de Pos-graduacao de Engenharia (COPPE). Programa de Planejamento Energetico e Ambiental]. E-mails: lucy@ppe.ufrj.br; lveiga@ppe.ufrj.br

    2006-07-01

    The present work analyses the state-of-art of the environmental strategic evaluation in Brazil and presents the methods suggested by the Ministry of Environment for the realization of the ESE. As a case study one of the first of ESE done in Brazil, in the year of 1997, has been considered, specifically the Bolivia - Brazil gas pipeline (GASBOL)

  3. 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...

  4. The ethanol program in Brazil

    Science.gov (United States)

    Goldemberg, José

    2006-10-01

    The number of automobiles in the world has been growing fast and today requires one quarter of the global petroleum consumption. This problem requires adequate solutions, one of which Brazil has achieved with the Sugarcane Ethanol Program. This paper presents the history of this program, from its launch in the 1970s to the today's condition of full competitiveness in a free market. It also shows how it can be replicated to other countries, in order to replace 10 per cent of the world's gasoline consumption.

  5. Demographic dynamics and environmental change in Brazil

    Directory of Open Access Journals (Sweden)

    Hogan Daniel Joseph

    2001-01-01

    Full Text Available In its first part, the text examines the evolution of research on demographic dynamics and environmental change in Brazil. While concern for the deforestation of the Amazon region was an important starting point for the concerns of demographers, the first systematic studies dealt with the "brown agenda." It was a question of urban environmental quality which motivated specialists to enter this field. In the second part, the text presents a preliminary analysis of demographic dynamics in the principal ecological formations of Brazil, with considerations on the relationships between processes of population distribution and environmental sustainability.

  6. Will Brazil's cars go on the wagon?

    International Nuclear Information System (INIS)

    The use of ethanol as an alternative fuel for cars in Brazil, may shortly be reduced. Falling world oil prices have meant that ethanol, derived from sugar cane, following a fourteen year research program, has ceased to be a financially viable replacement for petrol. Although about a third of Brazil's cars are at present powered by ethanol, only substantial government subsidies could reinstate this fuel despite its reduced pollutant status. Government officials now predict that ethanol will become merely a petrol additive and production of ethanol cars will have stopped by the year 2000. (UK)

  7. 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.

  8. 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.

  9. 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.

  10. 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

  11. 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.

  12. 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…

  13. 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

  14. 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

  15. 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...

  16. 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)

  17. 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

  18. 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

  19. 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

    Directory of Open Access Journals (Sweden)

    Prolla Patricia A

    2011-10-01

    Full Text Available Abstract Background 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. Case presentation 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. Conclusion 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.

  20. 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

  1. 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

  2. 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.

  3. Present time

    OpenAIRE

    Romero, Gustavo E.

    2014-01-01

    The idea of a moving present or `now' seems to form part of our most basic beliefs about reality. Such a present, however, is not reflected in any of our theories of the physical world. I show in this article that presentism, the doctrine that only what is present exists, is in conflict with modern relativistic cosmology and recent advances in neurosciences. I argue for a tenseless view of time, where what we call `the present' is just an emergent secondary quality arising from the interactio...

  4. Present time

    CERN Document Server

    Romero, Gustavo E

    2014-01-01

    The idea of a moving present or `now' seems to form part of our most basic beliefs about reality. Such a present, however, is not reflected in any of our theories of the physical world. I show in this article that presentism, the doctrine that only what is present exists, is in conflict with modern relativistic cosmology and recent advances in neurosciences. I argue for a tenseless view of time, where what we call `the present' is just an emergent secondary quality arising from the interaction of perceiving self-conscious individuals with their environment. I maintain that there is no flow of time, but just an ordered system of events.

  5. 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.

  6. 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

  7. 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.

  8. 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...

  9. 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.

  10. Flower colour mutations

    International Nuclear Information System (INIS)

    In the floriculture trade there is always a demand for new ornamental varieties. Flower colour is one of the most important components. Induced somatic mutation techniques using ionizing radiation and other mutagens have successfully produced many promising varieties in different ornamental plants by bringing about genetic changes. Induced mutation is a chance process. It is not known what flower colour change is likely to occur after mutagen treatment. Attempts are being made to induce a direct mutation for the flower colour of ornamental plants. For a better understanding of the exact mechanisms involved in the origin and evolution of somatic flower colour mutations at the molecular level, much attention has been paid to comparative analyses of the original cultivars and their induced mutants. Efforts are being made to identify the flower pigments and to prepare a colour chart which will be helpful in inducing the desired novelties in ornamental plants using induced genetic manipulation. 8 refs, 3 figs

  11. 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...

  12. 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)

  13. CATCHY PRESENTATIONS

    DEFF Research Database (Denmark)

    Eriksen, Kaare; Tollestrup, Christian; Ovesen, Nis

    2011-01-01

    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 their...

  14. KRAS mutations: analytical considerations.

    Science.gov (United States)

    Herreros-Villanueva, Marta; Chen, Chih-Chieh; Yuan, Shyng-Shiou F; Liu, Ta-Chih; Er, Tze-Kiong

    2014-04-20

    Colorectal cancer (CRC) is the third most common cancer and the second most common cause of cancer death globally. Significant improvements in survival have been made in patients with metastasis by new therapies. For example, Cetuximab and Panitumumab are monoclonal antibodies that inhibit the epidermal growth receptor (EGFR). KRAS mutations in codon 12 and 13 are the recognized biomarkers that are analyzed in clinics before the administration of anti-EGFR therapy. Genetic analyses have revealed that mutations in KRAS predict a lack of response to Panitumumab and Cetuximab in patients with metastatic CRC (mCRC). Notably, it is estimated that 35-45% of CRC patients harbor KRAS mutations. Therefore, KRAS mutation testing should be performed in all individuals with the advanced CRC in order to identify the patients who will not respond to the monoclonal EGFR antibody inhibitors. New techniques for KRAS testing have arisen rapidly, and each technique has advantages and disadvantages. Herein, we review the latest published literature specific to KRAS mutation testing techniques. Since reliability and feasibility are important issues in clinical analyses. Therefore, this review also summarizes the effectiveness and limitations of numerous KRAS mutation testing techniques. PMID:24534449

  15. 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.

  16. Brazil: anchoring the region

    International Nuclear Information System (INIS)

    The role of Brazil's state-run petroleum company, Petrobras, in providing a national supply of oil and natural gas and their products to Brazil was discussed. Petrobras is the sole state-run enterprise which carries out research, exploration, production, refining, imports, exports and the transportation of oil and gas in Brazil. Petrobras has built a complete and modern infrastructure made up of refineries, distribution bases, terminals and oil and gas pipelines. Recently (1995) the Brazilian National Assembly approved legislation that while confirming the state monopoly, also provides private contractors and other state-owned companies ways to participate in the petroleum sector. There exists a great potential for oil and gas in many of Brazil's 29 sedimentary basins. The regulatory legislation also created two new organs to deal with the partial deregulation of the petroleum sector, the National Board for Energy Policy and the National Petroleum Agency. The first of these will deal with policy issues, measures and guidelines regarding regional energy supply and demand and specific programs such as those affecting natural gas, fuel alcohol, coal and nuclear energy. The National Petroleum Agency will manage the hydrocarbon sector on behalf of the government. Its functions will include regulation and monitoring of the sector, managing the bidding process for concessions for exploration and production, and other related activities. The new legislation opens up new horizons for the Brazilian oil sector, providing opportunities for private investment, both domestic and foreign, as well as for new technological capabilities associated with these investments. 1 tab., 6 figs

  17. 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.

  18. 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.

  19. 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.

  20. 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)

  1. Brazil: World Oil Report 1991

    International Nuclear Information System (INIS)

    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

  2. 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)

  3. 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.

  4. 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

  5. Mutation breeding in vegetable crops

    International Nuclear Information System (INIS)

    Vegetables breed by seeds and vegetative organs. In main vegetables, the differentiation of clopping types, the adoption of monoculture and year-round production and shipment are carried out, adapting to various socio-economic and cultivation conditions. Protected agriculture has advanced mainly for fruit vegetables, and the seeds for sale have become almost hybrid varieties. Reflecting the situation like this, the demand for breeding is diversified and characteristic, and the case of applying mutation breeding seems to be many. The present status of the mutation breeding of vegetables is not yet well under way, but about 40 raised varieties have been published in the world. The characters introduced by induced mutation and irradiation were compact form, harvesting aptitude, the forms and properties of stems and leaves, anti-lodging property, the size, form and uniformity of fruits, male sterility and so on. The radiation sources used were mostly gamma ray or X-ray, but sometimes, combined irradiation was used. As the results obtained in Japan, burdocks as an example of gamma ray irradiation to seeds, tomatoes as an example of inducing the compound resistance against disease injury and lettuces as an example of internal beta irradiation are reported. (Kako, I.)

  6. 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.

  7. 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

  8. 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

  9. Dengue situation in Brazil by year 2000

    Directory of Open Access Journals (Sweden)

    Hermann G Schatzmayr

    2000-01-01

    Full Text Available Dengue virus types 1 and 2 have been isolated in Brazil by the Department of Virology, Instituto Oswaldo Cruz, in 1986 and 1990 respectively, after many decades of absence. A successful continental Aedes aegypti control program in the Americas, has been able to eradicate the vector in most countries in the 60's, but the program could not be sustained along the years. Dengue viruses were reintroduced in the American region and the infection became endemic in Brazil, like in most Central and SouthAmerican countries and in the Caribbean region, due to the weaning of the vector control programs in these countries. High demographic densities and poor housing conditions in large urban communities, made the ideal conditions for vector spreading. All four dengue types are circulating in the continent and there is a high risk of the introduction in the country of the other two dengue types in Brazil, with the development of large epidemics. After the Cuban episode in 1981, when by the first time a large epidemic of dengue hemorrhagic fever and dengue shock syndrome have been described in the Americas, both clinical presentations are observed, specially in the countries like Brazil, with circulation of more than one dengue virus type. A tetravalent potent vaccine seems to be the only possible way to control the disease in the future, besides rapid clinical and laboratory diagnosis, in order to offer supportive treatment to the more severe clinical infections.

  10. Status of Research Reactor Utilization in Brazil

    International Nuclear Information System (INIS)

    Brazil has four research reactors in operation: the IEA-R1, a pool type research reactor of 5 MW; the IPR-R1, a TRIGA Mark I type research reactor of 100 kW; the ARGONAUTA, an Argonaut type research reactor of 500 W; and the IPEN/MB-01 a critical facility of 100 W. Research reactor utilization has more than fifty years in Brazil. The first three reactors, constructed in the late 50's and early 60's at university campus in Sao Paulo, Belo Horizonte and Rio de Janeiro, had their utilization for training, teaching and nuclear research. The IPEN/MB-01, designed and constructed in IPEN in the late 80's, is utilized for the development and qualification of reactor physics calculation for PWR core application. The IEA-R1 has had its application and utilization increased through the years and it is presently used for radioisotope production, neutron beam application, neutrongraphy, neutron activation analysis, and limited fuel and material irradiation tests, besides the regular use for training and teaching. The low power of the reactor and the lack of hot cells for post irradiation analysis limits its technical application for the nuclear fuel industry. Brazil has two nuclear power plants in operation, one unit starting construction and four more units planned for the next two decades. Brazil has significant quantities of uranium ore and has expertise in all the fuel cycle steps, including uranium enrichment, and produces the fuel assemblies for the nuclear power plants. These industrial activities demand the need of material and fuel irradiation tests. IPEN produces radiopharmaceutical kits for the treatment of more than three million patients each year. The majority of the radiopharmaceutical kits is produced from imported radioisotopes. The increasing price and shortage of world supply of 99mTc leads also to the need of increasing the radioisotope production in Brazil. Due to these new demands, the Brazilian Nuclear Energy Commission is analyzing the costs and benefits

  11. TET2 gene mutation is unfavorable prognostic factor in cytogenetically normal acute myeloid leukemia patients with NPM1+ and FLT3-ITD - mutations.

    Science.gov (United States)

    Tian, Xiaopeng; Xu, Yang; Yin, Jia; Tian, Hong; Chen, Suning; Wu, Depei; Sun, Aining

    2014-07-01

    Cytogenetically normal acute myeloid leukemia (cn-AML) is a group of heterogeneous diseases. Gene mutations are increasingly used to assess the prognosis of cn-AML patients and guide risk-adapted treatment. In the present study, we analyzed the molecular genetics characteristics of 373 adult cn-AML patients and explored the relationship between TET2 gene mutations or different genetic mutation patterns and prognosis. We found that 16.1 % of patients had TET2 mutations, 31.6 % had FLT3 internal tandem duplications (ITDs), 6.2 % had FLT3 tyrosine kinase domain mutations, 2.4 % had c-KIT mutations, 37.8 % had NPM1 mutations, 11.3 % had WT1 mutations, 5.9 % had RUNX1 mutations, 11.5 % had ASXL1 mutations, 3.8 % had MLL-PTDs, 7.8 % had IDH1 mutations, 7.8 % had NRAS mutations, 12.3 % had IDH2 mutations, 1.6 % had EZH2 mutations, and 14.7 % had DNMT3A mutations, while none had CBL mutations. Gene mutations were detected in 76.94 % (287/373) of all patients. In the NPM1m(+) patients, those with TET2 mutations were associated with a shorter median overall survival (OS) as compared to TET2 wild-type (wt) patients (9.9 vs. 27.0 months, respectively; P = 0.023); Interestingly, the TET2 mutation was identified as an unfavorable prognostic factor and was closely associated with a shorter median OS as compared to TET2-wt (9.5 vs. 32.2 months, respectively; P = 0.013) in the NPM1m(+)/FLT3-ITDm(-) patient group. Thus, identification of TET2 combined with classic NPM1 and FLT3-ITD mutations allowed us to stratify cn-AML into distinct subtypes. PMID:24859829

  12. 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...

  13. 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.

  14. 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.

  15. 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

  16. 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.

  17. Heliostat tailored to Brazil

    OpenAIRE

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

    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...

  18. 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.

  19. Drought Preparedness in Brazil

    OpenAIRE

    Gutiérrez, Ana Paula A.; Engle, Nathan L.; De Nys, Erwin; Molejón, Carmen; Sávio Martins, Eduardo

    2014-01-01

    Large portions of Brazil's Northeast have experienced an intense and prolonged drought for the majority of 2010–2013. This drought, along with other droughts that have hit the South in recent years, has sparked a new round of discussions to improve drought policy and management at the federal and state levels. To assist with these efforts, the World Bank recently conducted a series of evaluations on national and sub-national drought preparedness measures and approaches across five country cas...

  20. Brazil: Selected Issues Paper

    OpenAIRE

    International Monetary Fund

    2012-01-01

    This Selected Issues Paper discusses the macroeconomic implications of pension reforms in Brazil. It assesses empirically the relationship between fiscal policy and the real effective exchange rate in emerging markets and draws policy implications. It reviews the current status of local capital markets in the country, the key challenges, and policy options for further development. The paper also provides a detailed description of consumer credit developments and analyzes recent indicators of ...

  1. 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.

  2. 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

  3. 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.

  4. Presence of plasmid-mediated quinolone resistance determinants and mutations in gyrase and topoisomerase in Salmonella enterica isolates with resistance and reduced susceptibility to ciprofloxacin.

    Science.gov (United States)

    Casas, Monique Ribeiro Tiba; Camargo, Carlos Henrique; Soares, Flávia Barrosa; da Silveira, Wanderley Dias; Fernandes, Sueli Aparecida

    2016-05-01

    In recent decades, the emergence and spread of resistance to nalidixic acid are usually associated with reduced susceptibility to ciprofloxacin among Salmonella serotypes. The aims of this study were to investigate the mechanisms associated with resistance to fluoroquinolone and the clonal relatedness of Salmonella strains isolated from human and nonhuman origins, in a 5-year period in São Paulo, Brazil. Antimicrobial susceptibility testing for Salmonella isolates was performed. PCR and DNA sequencing were accomplished to identify mutations in the quinolone resistance-determining regions of the topoisomerase genes and to determine the fluoroquinolone determinants. The strains presented MIC to ciprofloxacin ranging from 0.125 to 8.0 mg/L (all nonsusceptible). From these, 16 strains (17.5%) were resistant to ciprofloxacin (MIC ≥1 mg/L) and belonging to serotypes Typhimurium, I. 4,5,12:i:-, Enteritidis, and Heidelberg. Amplification and DNA sequencing of topoisomerases genes identified multiple amino acid substitutions in GyrA and ParC. No mutations were identified in GyrB, and 1 amino acid substitution was identified in ParE. Among the 16 Salmonella strains resistant to ciprofloxacin, 8 S. I. 4,5,12:i:- presenting mutations in gyrA and parE genes were grouped into the same pulsotype. Plasmid-mediated quinolone resistance (PMQR) determinants: qnrB, aac(6')-lb-cr, and oqxA/B were detected among 13 strains. To the best of our knowledge, this is the first work to report Salmonella isolates resistant to ciprofloxacin in Brazil. Indeed, this is the first detection of PMQR determinants in Salmonella strains from Sao Paulo State. These findings alert for the potential spread of quinolone resistance of Salmonella strains, particularly in S. I. 4,5,12:i:-, a prevalent serotype implicated in human disease and foodborne outbreaks. PMID:26971183

  5. Technical presentation

    CERN Document Server

    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

  6. 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.

  7. Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032

    Directory of Open Access Journals (Sweden)

    Bacchiocchi Antonella

    2010-07-01

    Full Text Available Abstract Activating mutations in BRAF kinase are common in melanomas. Clinical trials with PLX4032, the mutant-BRAF inhibitor, show promising preliminary results in patients selected for the presence of V600E mutation. However, activating V600K mutation is the other most common mutation, yet patients with this variant are currently excluded from the PLX4032 trials. Here we present evidence that a patient bearing the BRAF V600K mutation responded remarkably to PLX4032, suggesting that clinical trials should include all patients with activating BRAF V600E/K mutations.

  8. Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene

    Directory of Open Access Journals (Sweden)

    Udhaya H Kotecha

    2014-01-01

    Full Text Available Background & objectives: Multiple suphphatase deficiency (MSD is an autosomal recessive disorder affecting the post translational activation of all enzymes of the sulphatase family. To date, approximately 30 different mutations have been identified in the causative gene, sulfatase modifying factor 1 (SUMF1. We describe here the mutation analysis of a case of MSD. Methods: The proband was a four year old boy with developmental delay followed by neuroregression. He had coarse facies, appendicular hypertonia, truncal ataxia and ichthyosis limited to both lower limbs. Radiographs showed dysostosis multiplex. Clinical suspicion of MSD was confirmed by enzyme analysis of four enzymes of the sulphatase group. Results: The patient was compound heterozygote for a c.451A>G (p.K151E substitution in exon 3 and a single base insertion mutation (c.690_691 InsT in exon 5 in the SUMF1 gene. The bioinformatic analysis of the missense mutation revealed no apparent effect on the overall structure. However, the mutated 151-amino acid residue was found to be adjacent to the substrate binding and the active site residues, thereby affecting the substrate binding and/or catalytic activity, resulting in almost complete loss of enzyme function. Conclusions: The two mutations identified in the present case were novel. This is perhaps the first report of an insertion mutation in SUMF1 causing premature truncation of the protein.

  9. 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…

  10. Porocephalus species (Pentastomida) infecting Boa constrictor (Boidae) and Lachesis muta (Viperidae) in northeastern Brazil

    OpenAIRE

    Miriam Camargo Guarnieri; Felipe Silva Ferreira; Waltécio de Oliveira Almeida; Samuel Vieira Brito

    2008-01-01

    Brazil has a great diversity of snakes, but there are few published works concerning parasitism in these animals. The present paper examined pulmonary infection by pentastomids in large snakes from northeastern Brazil, including six specimens of Boa constrictor and two examples of Lachesis muta from the Serpentarium of the Federal University of Pernambuco (UFPE), Brazil, all of which were collected in the Atlantic Coastal Forest. One specimen of B. constrictor was infected by Porocephalus sp....

  11. 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.

  12. The determinants of migration in Brazil

    OpenAIRE

    2005-01-01

    In the present study, the neoclassic human capital model was used as the theoretical foundation for the analyses of the determinants of migration in Brazil. The empirical studies were carried on with the application of a multiple regression macro model based on the gravitational model and on the Poisson distribution. In the empirical model, the number of migrants between Brazilian mesoregions was the response variable. Many socioeconomic and criminal aspects of the origin and the destiny of t...

  13. Brazil: Selected Issues and Statistical Appendix

    OpenAIRE

    International Monetary Fund

    2001-01-01

    This paper analyzes several issues regarding fiscal sustainability and fiscal adjustment in Brazil during 1990 and searches for econometric evidence of a monetary dominant regime during some subperiods. The following statistical data are also presented in detail: macroeconomic flows and balances, industrial production, consumer price index, relative public sector prices and tariffs, minimum wage statistics, financial system loans, monetary aggregates, exports by principal commodity groups, di...

  14. 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...

  15. 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)

  16. 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.

  17. 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

  18. 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

  19. 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

  20. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

    Husted Rich, N.

    1996-04-01

    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)

  2. 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)

  3. 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...

  4. 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,…

  5. Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour

    OpenAIRE

    Hanks, Sandra; Perdeaux, Elizabeth R; Seal, Sheila; Ruark, Elise; Mahamdallie, Shazia S; Murray, Anne; Ramsay, Emma; del Vecchio Duarte, Silvana; Zachariou, Anna; de Souza, Bianca; Warren-Perry, Margaret; Elliott, Anna; Davidson, Alan; Price, Helen; Stiller, Charles

    2014-01-01

    Wilms tumour is a childhood kidney cancer. Here we identify inactivating CTR9 mutations in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. By contrast, no similar mutations are present in 1,000 population controls (P

  6. 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

  7. 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...

  8. Presentation Presentación = Presentation

    Directory of Open Access Journals (Sweden)

    Leany BARREIRO LEMOS

    2011-01-01

    Full Text Available This issue of América Latina Hoy is dedicated to the evaluation of the first year of government of Luiz Inacio Lula da Silva in Brazil.Este número de América Latina Hoy está dedicado a la evaluación del primer año de gobierno de Luiz Inácio Lula da Silva en Brasil.

  9. Argentina and Brazil: an evolving nuclear relationship

    International Nuclear Information System (INIS)

    Argentina and Brazil have Latin America's most advanced nuclear research and power programs. Both nations reject the Non-Proliferation Treaty (NPT), and have not formally embraced the Tlatelolco Treaty creating a regional nuclear-weapon-free zone. Disturbing ambiguities persist regarding certain indigenous nuclear facilities and growing nuclear submarine and missile capabilities. For these, and other reasons, the two nations are widely considered potential nuclear weapon states. However both nations have been active supporters of the International Atomic Energy Agency (IAEA) and have, in recent years, assumed a generally responsible position in regard to their own nuclear export activities (requiring IAEA safeguards). Most important, however, has been the advent of bilateral nuclear cooperation. This paper considers the evolving nuclear relationship in the context of recent and dramatic political change in Argentina and Brazil. It discusses current political and nuclear developments and the prospects for maintaining and expanding present bilateral cooperation into an effective non-proliferation arrangement. (author)

  10. 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.

  11. Kin Selection - Mutation Balance

    DEFF Research Database (Denmark)

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

    2011-01-01

    Abstract Social conflict, in the form of intraspecific selfish "cheating" has been observed in a number of natural systems. However, a formal, evolutionary genetic theory of social cheating that provides an explanatory, predictive framework for these observations is lacking. Here we derive the kin...... 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...... lineages are transient and do not invade. Instead, cheating lineages are eliminated by kin selection but are constantly reintroduced by mutation, maintaining a stable equilibrium frequency of cheaters. The presence of cheaters at equilibrium creates a "cheater load" that selects for mechanisms of cheater...

  12. Discordant phenotypes in monozygotic twins with identical de novo WT1 mutation

    OpenAIRE

    Yu, Zihua; Yang, Yonghui; Feng, Dongning

    2012-01-01

    Mutations in the WT1 gene, leading to Denys-Drash syndrome and Frasier syndrome, can also cause isolated steroid-resistant nephrotic syndrome (ISRNS). Previous studies have reported six pairs of monozygotic twins with WT1 mutations, including one presenting with discordant phenotypes with identical WT1 mutations being of paternal origin and five pairs of monozygotic twins presenting the same phenotype with identical WT1 mutations. In this study, we report on female monozygotic twins showing d...

  13. Hypertrichosis in patients with SURF1 mutations.

    Science.gov (United States)

    Ostergaard, Elsebet; Bradinova, Irena; Ravn, Susanne Holst; Hansen, Flemming Juul; Simeonov, Emil; Christensen, Ernst; Wibrand, Flemming; Schwartz, Marianne

    2005-11-01

    We present three patients with SURF1 mutations. In addition to Leigh syndrome all patients had hypertrichosis, a clinical sign that is not usually associated with Leigh syndrome. The hypertrichosis was not congenital and it was mainly distributed on the extremities and forehead. In addition to our three patients, we have identified five patients in the literature with hypertrichosis and Leigh syndrome due to SURF1 mutations. Since most patients had onset of hypertrichosis before the diagnosis of Leigh syndrome was made, we suggest that clinicians consider Leigh syndrome in patients with, for example, psychomotor retardation or other unspecific symptoms in combination with hypertrichosis. PMID:16222681

  14. Mutation selection of strawberries

    International Nuclear Information System (INIS)

    A brief account is given of the preliminary results of selection work carried out with the aim of deriving a variety of strawberry suitable for mechanized picking. Mutation selection based on irradiation by gamma rays, fast neutrons and a laser beam has been used. The irradiation was performed on strawberry seedlings grown under field conditions and on in vitro cultures at different stages of development. The studies are continuing. (author)

  15. Mutate my software

    OpenAIRE

    Micallef, Mark; Colombo, Christian; Duca, Edward

    2015-01-01

    Computer systems run the world and are found in fridges to hospitals. Every application needs testing, which is expensive and time-consuming. Dr Mark Micallef and Dr Christian Colombo from the PEST research group (Faculty of ICT, University of Malta) tells THINK about a new technique which could make testing easier and more consistent. Illustrations by NO MAD. http://www.um.edu.mt/think/mutate-my-software/

  16. 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.

  17. Mutations in sodium channel {beta}-subunit SCN3B are associated with early-onset lone atrial fibrillation

    DEFF Research Database (Denmark)

    Olesen, Morten Salling; Jespersen, Thomas; Nielsen, Jonas Bille;

    2011-01-01

    -synonymous mutations were found in SCN3B (R6K, L10P, and M161T). Two mutations were novel (R6K and M161T). None of the mutations were present in the control group (n = 432 alleles), nor have any been previously reported in conjunction with AF. All SCN3B mutations affected residues that are evolutionarily conserved...

  18. 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.

  19. 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

  20. Wheat improvement by induced mutations

    International Nuclear Information System (INIS)

    The genetic constitution of the allohexaploid Triticum aestivum offers enormous opportunities of induction and exploitation of mutations for qualitative as well as for quantitative characters. The paper presents and discusses experimental data on the evolution of Mutant 115 with reference to the improvement of grain yield and related characters. The mutant produced significantly (P >= 0.05) higher grain yield than the commercial varieties (Pak-70 and Mexi-Pak) and the mother cultivar (Nayab). In the zonal trials conducted on Government farms and farmer's fields, Mutant 115 gave 10% and 25% more yield than Pak-70 and Mexi-Pak respectively. The stability parameters of the mutant were computed. The mutant was characterized by having b > 1.0 and medium s.e. (b). The mutant exhibited resistance to Puccinia graminis tritici and Puccinia recondita. The technological properties of the mutant were at par with the existing commercial varieties. The radiation treatment also removed two original defects of the mother cultivar Nayab viz. apical sterility and red grain colour. Induced mutations can thus be exploited successfully for the improvement of contemporary wheat cultivars. (author)

  1. Fuelwood utilization in Brazil

    International Nuclear Information System (INIS)

    The annual consumption of fuelwood in Brazil is approximately equal to 180 million oil barrels, or 13.3% of all Brazilian primary energy use. Fuelwood consumption in the country is greater than the use of wood for industrial use. Fuelwood taken from existing forest has been a very common activity in Brazil. Forest plantations to support the Brazilian fuelwood consumption have not been important. As fuelwood consumption in the country is expected to increase in the future, it is important to increase the supply of wood by sustainable use of the existing natural forests. Even if they are far from the centers of consumption, these are only available reserves capable of supporting the Brazilian future fuelwood requirements. For this reason it is necessary to use advanced technology to convert the energy of wood efficiently into a form (such as electricity) to carry it to the centers of consumption. In addition, forest plantations would be established in the available areas, mainly for specific uses, as for charcoal production for the pig-iron and steel industries. In all the above plans, at least, the US3/2 billion/year that represents the current Brazilian fuelwood consumption should be returned to rehabilitate the forest growing stock. In addition, it would be used to stimulate the development and use of the most suitable systems of fuelwood conversion, improving the efficiency of energy production. (author)

  2. 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.

  3. TP53 Mutational Spectrum in Endometrioid and Serous Endometrial Cancers.

    Science.gov (United States)

    Schultheis, Anne M; Martelotto, Luciano G; De Filippo, Maria R; Piscuglio, Salvatore; Ng, Charlotte K Y; Hussein, Yaser R; Reis-Filho, Jorge S; Soslow, Robert A; Weigelt, Britta

    2016-07-01

    Endometrial carcinomas (ECs) are heterogeneous at the genetic level. Although TP53 mutations are highly recurrent in serous endometrial carcinomas (SECs), these are also present in a subset of endometrioid endometrial carcinomas (EECs). Here, we sought to define the frequency, pattern, distribution, and type of TP53 somatic mutations in ECs by performing a reanalysis of the publicly available data from The Cancer Genome Atlas (TCGA). A total of 228 EECs (n=186) and SECs (n=42) from the TCGA data set, for which an integrated genomic characterization was performed, were interrogated for the presence and type of TP53 mutations, and for mutations in genes frequently mutated in ECs. TP53 mutations were found in 15% of EECs and 88% of SECs, and in 91% of copy-number-high and 35% of polymerase (DNA directed), epsilon, catalytic subunit (POLE) integrative genomic subtypes. In addition to differences in prevalence, variations in the type and pattern of TP53 mutations were observed between histologic types and between integrative genomic subtypes. TP53 hotspot mutations were significantly more frequently found in SECs (46%) than in EECs (15%). TP53-mutant EECs significantly more frequently harbored a co-occurring PTEN mutation than TP53-mutant SECs. Finally, a subset of TP53-mutant ECs (22%) was found to harbor frameshift or nonsense mutations. Given that nonsense and frameshift TP53 mutations result in distinct p53 immunohistochemical results that require careful interpretation, and that EECs and SECs display different patterns, types, and distributions of TP53 mutations, the use of the TP53/p53 status alone for the differential diagnosis of EECs and SECs may not be sufficient. PMID:26556035

  4. 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.

  5. Frequent DPH3 promoter mutations in skin cancers.

    Science.gov (United States)

    Denisova, Evgeniya; Heidenreich, Barbara; Nagore, Eduardo; Rachakonda, P Sivaramakrishna; Hosen, Ismail; Akrap, Ivana; Traves, Víctor; García-Casado, Zaida; López-Guerrero, José Antonio; Requena, Celia; Sanmartin, Onofre; Serra-Guillén, Carlos; Llombart, Beatriz; Guillén, Carlos; Ferrando, Jose; Gimeno, Enrique; Nordheim, Alfred; Hemminki, Kari; Kumar, Rajiv

    2015-11-01

    Recent reports suggested frequent occurrence of cancer associated somatic mutations within regulatory elements of the genome. Based on initial exome sequencing of 21 melanomas, we report frequent somatic mutations in skin cancers in a bidirectional promoter of diphthamide biosynthesis 3 (DPH3) and oxidoreductase NAD-binding domain containing 1 (OXNAD1) genes. The UV-signature mutations occurred at sites adjacent and within a binding motif for E-twenty six/ternary complex factors (Ets/TCF), at -8 and -9 bp from DPH3 transcription start site. Follow up screening of 586 different skin lesions showed that the DPH3 promoter mutations were present in melanocytic nevi (2/114; 2%), melanoma (30/304; 10%), basal cell carcinoma of skin (BCC; 57/137; 42%) and squamous cell carcinoma of skin (SCC; 12/31; 39%). Reporter assays carried out in one melanoma cell line for DPH3 and OXNAD1 orientations showed statistically significant increased promoter activity due to -8/-9CC > TT tandem mutations; although, no effect of the mutations on DPH3 and OXNAD1 transcription in tumors was observed. The results from this study show occurrence of frequent somatic non-coding mutations adjacent to a pre-existing binding site for Ets transcription factors within the directional promoter of DPH3 and OXNAD1 genes in three major skin cancers. The detected mutations displayed typical UV signature; however, the functionality of the mutations remains to be determined. PMID:26416425

  6. 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

  7. 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

  8. 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…

  9. 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.

  10. Indigenous and adapted energy technologies and energy efficiency [Brazil: A country profile on sustainable energy development

    International Nuclear Information System (INIS)

    Brazil has significant experience in the development and use of innovative technologies. This chapter presents and discusses general aspects of indigenous and adapted energy technologies in Brazil and analyses of energy efficiencies of selected technologies. The most important technologies include sugar cane production and conversion to ethanol, hydropower, electricity transmission and offshore oil production

  11. 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

  12. 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.)

  13. Labelling and Packaging in Brazil

    OpenAIRE

    Cavalcante, Tania M; World Health Organization

    2003-01-01

    Introduction Brazil is the largest country in South America, with an area of 8 547 403.5 square kilometres and a population of 169 799 170 (IBGE, 2000). Its geopolitical structure com-prises 26 states and one Federal District, the capital of Brazil, Brasilia. Each state is divided into municipalities, of which there are a total of 5 507. The primary causes of death in Brazil are cardiovascular diseases and cancer and their major risk factor is tobacco use. Lung cancer is the...

  14. Detection of two novel mutations and relatively high incidence of H-RAS mutations in Vietnamese oral cancer.

    Science.gov (United States)

    Murugan, Avaniyapuram Kannan; Hong, Nguyen Thi; Cuc, Tran Thi Kim; Hung, Nguyen Chan; Munirajan, Arasambattu Kannan; Ikeda, Masa-Aki; Tsuchida, Nobuo

    2009-10-01

    Oral squamous cell carcinoma is the sixth most common cancer in the world and the seventh most common cancer in Vietnam. The RAS and PI3K-AKT signaling pathways play an important role in oral carcinogenesis. Our previous study on PI3K signaling pathway showed the absence of PIK3CA and PTEN gene mutations in Vietnamese oral cancer. We thus hypothesized that the RAS could be more likely activated as an upstream effector. However, the status of RAS mutations in Vietnamese oral cancer had not been studied. In the present study, Fifty six primary tumor DNA samples were screened for mutations of hot spots in exons 1 and 2 of H-RAS and a part of the samples for exon 7 of ERK2 gene in which we previously reported a mutation in an OSCC cell line. The H-RAS mutations were detected in 10 of 56 tumors (18%). Two novel mutations were found, one was an insertion of three nucleotides (GGC) between codons 10 and 11 resulting in in-frame insertion of glycine (10(Gly)11) and the other was a missense mutation in codon 62 (GAG>GGG). We also found T81C single nucleotide polymorphism in 12 of 56 tumors (22%) and there was no mutation in exon 7 of ERK2 gene. The H-RAS mutation incidence showed significant association with advanced stages of the tumor and also with well-differentiated tumor grade. Our study is the first to report H-RAS mutation from Vietnamese ethnicity, with two novel mutations and relatively high incidence of H-RAS mutations. The results suggest that RAS is an important member in the PI3K-AKT signaling and could play an important role in the tumorigenesis of oral carcinoma. PMID:19628422

  15. 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.

  16. 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.

  17. 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.

  18. Enterovirus meningitis in Brazil, 1998-2003.

    Science.gov (United States)

    Dos Santos, Gina P L; Skraba, Irene; Oliveira, Denise; Lima, Ana A F; de Melo, Maria Mabel M; Kmetzsch, Claudete I; da Costa, Eliane V; da Silva, Edson E

    2006-01-01

    Acute viral infections of the central nervous system (CNS) such as acute flaccid paralysis, meningitis, and encephalitis, are responsible for a high morbidity, particularly in children. Non-Polio enteroviruses (NPEV) are known to be responsible for over 80% of viral meningitis in which the etiologic agent is identified. In the present study, we show the frequency of enterovirus meningitis in Brazil from December 1998 to December 2003. Enterovirus were isolated from 162 (15.8%), of a total of 1,022 cerebrospinal fluid (CSF) specimens analyzed. Echovirus 30 was identified in 139 of these isolates (139/162-85.2%). Other identified enteroviruses were: Coxsackievirus B5 (3.7%), Echovirus 13 (3.7%), Echovirus 18 (3%), Echovirus 6 (1.2%), Echovirus 25 (1.2%), Echovirus 1 (0.6%), and Echovirus 4 (0.6%). Patients's age ranged from 28 days to 68 years old. The most frequent symptoms were fever (77%), headache (69.5%), vomiting (71.3%), neck stiffness (41.3%), convulsion (7.1%), and diarrhea (3.7%). Although, the majority of the patients recovered without any complication or permanent squeal, five deaths occurred. Throughout the surveillance period, five viral meningitis outbreaks were confirmed: four in the Southern Brazil and one in the Northeast Brazil. Echovirus 30 was responsible for four out of the five outbreaks while Echovirus 13 caused the fifth one. Besides the outbreaks, 734 sporadic cases were also identified during the study period and 59 of these were positive for virus isolation (8%). Echovirus 30 accounted for 70% of the isolates. Our results showed that Echovirus 30 was the most prevalent etiological agent of viral meningitis in Brazil, causing both outbreaks and sporadic cases. PMID:16299728

  19. 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. The most widely known characteristic of chickpea is that it is an important vegetable protein source used in human and animal nutrition. However, the dry grains of chickpea, has 2-3 times more protein than our traditional food of wheat. In addition, cheakpea is also energy source because of its high carbohydrate content. It is very rich in some vitamin and mineral basis. In the plant breeding, mutation induction has become an effective way of supplementing existing germplasm and improving cultivars. Many successful examples of mutation induction have proved that mutation breeding is an effective and important approach to food legume improvement. The induced mutation technique in chickpea has proved successful and good results have been attained. Realizing the potential of induced mutations, a mutation breeding programme was initiated at the Nuclear Agriculture Section of the Saraykoey 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. Parents varieties were ILC-482, AK-7114 and AKCIN-91 (9 % seed moisture content and germination percentage 98 %) in these experiments. The irradiation doses were 0 (control), 50, 100, 150, 200, 250, 300, 350, 400, 500 ve 600 Gy for greenhouse experiments and 0 (control), 50, 100, 150, 200, 250, 300, 350 ve 400 Gy for field experiments, respectively. One thousand seeds for per treatment were sown in the field for the M1. At maturity, 3500 single plants were harvested and 20 seeds were taken from each M1 plant and planted in the following season. During plant growth

  20. 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...

  1. 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...

  2. 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.

  3. The use of FTA cards for transport and detection of gyrA mutation of Campylobacter jejuni from poultry.

    Science.gov (United States)

    Sierra-Arguello, Y M; Faulkner, O; Tellez, G; Hargis, B M; Pinheiro do Nascimento, V

    2016-04-01

    The purpose of the present study was to evaluate a technique involving the use of commercially available FTA classic card (Whatman) for transporting and detection of DNA to use in PCR analysis and genetic sequencing of Campylobacter jejuni of poultry origin. Fifty isolates of Campylobacter jejuni were obtained from broiler carcasses in Rio Grande do Sul, Brazil. Antimicrobial susceptibility testing to ciprofloxacin revealed that all 50 isolates were resistant to ciprofloxacin. Each isolate was transferred to Brucella broth tubes and incubated overnight at 41.5°C. Cell cultures were diluted to match a McFarland Turbidity Standard 0.5, and 110 μL of the cell suspension were applied to one circle on Whatman FTA classic cards. The samples were then covered and allowed to dry at room temperature. Cards were identified and stored at room temperature until further use (3 mo after collection). FTA cards were shipped for analysis to the Department of Poultry Science, University of Arkansas. Amplification of the Campylobacter gyrA gene was successful and demonstrated strong bands for a large amplicon for all 50 samples preserved on FTA cards. Mutations present in each gene were confirmed by DNA sequencing. Then, 7 samples were chosen for the sequencing. The detection of a mutation regarding ciprofloxacin-resistant isolates revealed that 7 samples had a mutation in the gyrA gene. In conclusion, the characteristics of the profiles suggest that the DNA has maintained its integrity after 3 mo of storage at room temperature and is a suitable template for PCR and sequencing from Campylobacter samples. The application of this technology has potential in numerous methodologies, especially when working in remote areas and in developing countries where access to laboratory facilities and equipment is limited. PMID:26769268

  4. Social impacts of Brazil's Tucurui Dam

    International Nuclear Information System (INIS)

    The Tucurui Dam, which blocked the Tocantins River in 1984 in Brazil's eastern Amazonian state of Para, is a continuing source of controversy. Most benefits of the power go to aluminum smelting companies, where only a tiny amount of employment is generated. Often presented by authorities as a model for hydroelectric development because of the substantial power that it produces, the project's social and environmental impacts are also substantial. Examination of Tucurui reveals a systematic overestimation of benefits and underestimation of impacts as presented by authorities. Tucurui offers many as-yet unlearned lessons for hydroelectric development in Amazonia

  5. Methylenetetrahydrofolate reductase mutations, a genetic cause for familial recurrent neural tube defects

    Directory of Open Access Journals (Sweden)

    Laxmi V Yaliwal

    2012-01-01

    Full Text Available Methylenetetrahydrofolate reductase (MTHFR gene mutations have been implicated as risk factors for neural tube defects (NTDs. The best-characterized MTHFR genetic mutation 677C→T is associated with a 2-4 fold increased risk of NTD if patient is homozygous for this mutation. This risk factor is modulated by folate levels in the body. A second mutation in the MTHFR gene is an A→C transition at position 1298. The 1298A→C mutation is also a risk factor for NTD, but with a smaller relative risk than 677C→T mutation. Under conditions of low folate intake or high folate requirements, such as pregnancy, this mutation could become of clinical importance. We present a case report with MTHFR genetic mutation, who presented with recurrent familial pregnancy losses due to anencephaly/NTDs.

  6. Induced mutations in citrus

    International Nuclear Information System (INIS)

    Full text: Parthenocarpic tendency is an important prerequisite for successful induction of seedlessness in breeding and especially in mutation breeding. A gene for asynapsis and accompanying seedless fruit has been found by us in inbred progeny of cv. 'Wilking'. Using budwood irradiation by gamma rays, seedless mutants of 'Eureka' and 'Villafranca' lemon (original clone of the latter has 25 seeds) and 'Minneola' tangelo have been obtained. Ovule sterility of the three mutants is nearly complete, with some pollen fertility still remaining. A semi-compact mutant of Shamouti orange has been obtained by irradiation. A programme for inducing seedlessness in easy peeling citrus varieties and selections has been initiated. (author)

  7. Induced skeletal mutations

    International Nuclear Information System (INIS)

    This paper describes a large-scale experiment that, by means of breeding tests, confirmed that many dominant skeletal mutations are induced by large-dose radiation exposure. The author also discusses: (1) the major advantages and disadvantages of the skeletal method in improving estimates of genetic hazard to man; (2) future uses of the skeletal method; (3) direct estimation of risk beyond the first generation using the skeletal method; and (4) the possibility of using the skeletal method as a quick and easy screen for chemical mutagens

  8. 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

  9. 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.

  10. 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

  11. 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

  12. Zika: Why Brazil, Why Now

    Science.gov (United States)

    ... page: https://medlineplus.gov/news/fullstory_160251.html Zika: Why Brazil, Why Now Several factors -- including economics, ... been the country hit hardest by the ongoing Zika virus epidemic and its potential for birth defects. ...

  13. 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.

  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. 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...

  16. Automobile Pollution Control in Brazil

    OpenAIRE

    Claudio Ferraz; Ronaldo Seroa da Motta

    2015-01-01

    Air pollution concentrations have been rapidly increasing in the major urban areas of Brazil caused mainly by the increasing use of vehicles. In the presence of this negative externality, environmental regulation is required. Car emission control policies in Brazil have relied basically on mandatory emission standards and subsidies for specific cleaner technology resulting in substantial decrease of car emission rates. Nevertheless, car sale taxes, differentiated by vehicles’ size and fuel, h...

  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. 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. 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

  20. 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...

  1. 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...

  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. Somatic mitochondrial DNA mutations in Chinese patients with osteosarcoma.

    Science.gov (United States)

    Yu, Man; Wan, Yanfang; Zou, Qinghua

    2013-04-01

    Somatic mutations in mitochondrial DNA (mtDNA) have been long proposed to drive the pathogenesis and progression of human malignancies. Previous investigations have revealed a high frequency of somatic mutations in the D-loop control region of mtDNA in osteosarcoma. However, little is known with regard to whether or not somatic mutations also occur in the coding regions of mtDNA in osteosarcoma. To test this possibility, in the present study we screened somatic mutations over the full-length mitochondrial genome of 31 osteosarcoma tumour tissue samples, and corresponding peripheral blood samples from the same cohort of patients. We detected a sum of 11 somatic mutations in the mtDNA coding regions in our series. Nine of them were missense or frameshift mutations that have the potential to hamper mitochondrial respiratory function. In combination with our earlier observations on the D-loop fragment, 71.0% (22/31) of patients with osteosarcoma carried at least one somatic mtDNA mutation, and a total of 40 somatic mutations were identified. Amongst them, 29 (72.5%) were located in the D-loop region, two (5%) were in the sequences of the tRNA genes, two (5%) were in the mitochondrial ATP synthase subunit 6 gene and seven (17.5%) occurred in genes encoding components of the mitochondrial respiratory complexes. In addition, somatic mtDNA mutation was not closely associated with the clinicopathological characteristics of osteosarcoma. Together, these findings suggest that somatic mutations are highly prevalent events in both coding and non-coding regions of mtDNA in osteosarcoma. Some missense and frameshift mutations are putatively harmful to proper mitochondrial activity and might play vital roles in osteosarcoma carcinogenesis. PMID:23441585

  5. 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

  6. 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)

  7. 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.

  8. 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

  9. 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 ...

  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. 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

  13. 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...

  14. 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.

  15. Performance of mitochondrial DNA mutations detecting early stage cancer

    Directory of Open Access Journals (Sweden)

    Wagner Paul D

    2008-10-01

    Full Text Available Abstract Background Mutations in the mitochondrial genome (mtgenome have been associated with cancer and many other disorders. These mutations can be point mutations or deletions, or admixtures (heteroplasmy. The detection of mtDNA mutations in body fluids using resequencing microarrays, which are more sensitive than other sequencing methods, could provide a strategy to measure mutation loads in remote anatomical sites. Methods We determined the mtDNA mutation load in the entire mitochondrial genome of 26 individuals with different early stage cancers (lung, bladder, kidney and 12 heavy smokers without cancer. MtDNA was sequenced from three matched specimens (blood, tumor and body fluid from each cancer patient and two matched specimens (blood and sputum from smokers without cancer. The inherited wildtype sequence in the blood was compared to the sequences present in the tumor and body fluid, detected using the Affymetrix Genechip® Human Mitochondrial Resequencing Array 1.0 and supplemented by capillary sequencing for noncoding region. Results Using this high-throughput method, 75% of the tumors were found to contain mtDNA mutations, higher than in our previous studies, and 36% of the body fluids from these cancer patients contained mtDNA mutations. Most of the mutations detected were heteroplasmic. A statistically significantly higher heteroplasmy rate occurred in tumor specimens when compared to both body fluid of cancer patients and sputum of controls, and in patient blood compared to blood of controls. Only 2 of the 12 sputum specimens from heavy smokers without cancer (17% contained mtDNA mutations. Although patient mutations were spread throughout the mtDNA genome in the lung, bladder and kidney series, a statistically significant elevation of tRNA and ND complex mutations was detected in tumors. Conclusion Our findings indicate comprehensive mtDNA resequencing can be a high-throughput tool for detecting mutations in clinical samples with

  16. 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

  17. 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

  18. 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.

  19. 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.

  20. 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

  1. Light, distribution company in Brazil

    International Nuclear Information System (INIS)

    Since the publication of the Roulet Report, Electricite de France (EDF), the French group is crossing tormented hours. Despite its good financial results in 2004 with a turnover of 46.9 Mds euros its debts are around 19.7 Mds euros and are mainly due to its international investments which were not all very profitable. The first source of concern remains the Latin America markets and more particularly the Brazilian one which recorded 1.6 Md euros of losses. The future of EDF investment in Brazil, through its acquisition of the distribution company, Light, is uncertain. Within a new electric power industry framework, after currency devaluation and a rationing, Light is now in a catastrophic financial situation. The last tariff revisions given by the Brazilian authorities and the economic characteristics of the concession put the distributor at the edge of the bankruptcy. This article presents the situation of EDF group and Light at the end of 2004. The main question is the future of the Brazilian distributor in general and more particularly within the French group EDF. (author)

  2. 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

  3. 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

  4. Monitoring mutations in people: an in vivo study of people accidentally or occupationally exposed to ionizing radiation

    International Nuclear Information System (INIS)

    Recent developments in molecular biology and medicine now permit the monitoring of mutation in humans 'in vivo'. The most commonly used approach, and the main one reported in this paper, is the study of mutations at the hypoxanthine phosphoribosyl transferase (hprt) locus in peripheral T-lymphocytes. This paper deals with evidence from the radiological accident in Goiania, Brazil (where several hundred people were accidentally exposed to cesium-137), from a study of Soviet cosmonauts, and from monozygotic twins. The conclusions from Brazil are: mutation at hprt increases with age and is higher in smokers; in adults a linear dose response was found; no radiation-induced mutational fingerprint was found; children are particularly sensitive; the level of mutation dropped over several years (probably reflecting natural T-cell turnover). The conclusions from cosmonauts are: each cosmonaut had a significantly above-average level of mutation, but this may not be due to radiation at all; no 'fingerprint' was found, and there was no apparent dependence on dose. The study of twins showed a very strong correlation of mutant frequencies between one twin and the other, but this correlation decreased with age, presumably due to environmental effects. 1 tab., 2 figs

  5. 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)

  6. The regulatory aspects of bulk natural gas distribution market: the case of the Espirito Santo state, Brazil; Aspectos regulatorios do mercado de distribuicao de gas natural a granel: o caso do estado do Espirito Santo, Brasil

    Energy Technology Data Exchange (ETDEWEB)

    Campos, Adriana Fiorotti; Moraes, Natalia Goncalvez de [Universidade Federal do Rio de Janeiro (PPE/COPPE/UFRJ), RJ (Brazil). Coordenacao dos Programas de Pos-Graduacao de Engenharia. Programa de Planejamento Energetico; Carolino, Jaqueline [Universidade Federal do Espirito Santo (UFES), Vitoria, ES (Brazil)

    2010-07-01

    This paper presents the regulatory aspects of the natural gas in Brazil, and particularly focusing the segment of distribution and also how the regulatory and institutional changes happened at the Espirito Santo state, Brazil.

  7. 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

  8. 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

  9. Mutation breeding in Japan

    International Nuclear Information System (INIS)

    The achievements made in mutation breeding in Japan over the past 40 years are outlined from the viewpoint of practical breeding. Fifty-four varieties of 23 crops were obtained by direct use of induced mutants. These include 12 cereal mutant varieties, five food legumes, nine industrial crops, seven vegetables and 18 ornamentals. Ten varieties were obtained by national breeding institutes, 14 by prefectural stations and 30 by universities or private firms. The varieties produced by the national breeding programme were registered and released with Norin numbers. In most cases, ionizing radiation was used. Forty additional mutant varieties were developed through cross-breeding using induced mutants as the gene sources. Of the 33 rice varieties in this category, 21, including six national varieties, resulted from crosses involving Reimei, a semi-dwarf mutant variety. Another semi-dwarf mutant parent was used to breed two more national varieties. Three early heading mutants were also integrated into cross-breeding programmes and produced three national and two prefectural varieties. A large grain mutant produced three varieties for sake brewing. A new recessive resistant mutant allele to the soil borne virus (BaYMV) was induced in barley. One variety was bred using this mutant as a parent. Another promising disease resistant clone was induced by chronic irradiation in a gamma field in the leading Japanese pear variety Nijisseiki, which is susceptible to black spot disease caused by Alternaria alternata (Fr.) Keissler. This mutant clone maintained all the superior qualities of the original variety. The significant role of the Institute of Radiation Breeding as a core in mutation breeding is mentioned briefly. (author). 10 refs, 2 figs, 6 tabs

  10. 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.

  11. 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.

  12. 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)

  13. 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.

  14. 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.

  15. Mutation Breeding of Durum Wheat

    International Nuclear Information System (INIS)

    A comprehensive programme on experimental mutagenesis was started in 1956 for both genetic research and mutation breed ing at the Nuclear Center. Remarkable efforts were produced on durum wheat over the past 20 years and a lot of knowledge was gained on several aspects of this crop: radiobiology, mutagenesis, cytology and cytogenetics, genetics and breeding. This review concern: radiogenetical studies, isolation of useful mutations, agronomic evaluation of mutant lines and use of mutations in hybridization programs. Details are given on the genetic contribution of mutagenesis to the evolution of new cultivars in durums and on the economic evaluation of the cultivars obtained by mutation breeding. An economic return on mutation breeding of durum wheat is attempted. (author)

  16. 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...

  17. 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.

  18. Sectoral Innovation System Foresight in Brazil and Korea

    DEFF Research Database (Denmark)

    Dahl Andersen, Allan; Andersen, Per Dannemand; Park, Byeongwon;

    and advances fruitful integration between the two academic fields of Innovation Studies and Foresight. Second, it highlights the need for, and explores the practice of, foresight at the sector level. The latter is a gain for practitioners and policy makers – especially those interested in innovation policy...... in emerging economies as Brazil and Korea. Chapter two will outline the basic principles of ISF that will be translated into indicators for our measuring of ISF. Also, it will illustrate why the sector-level approach is necessary. Chapter three presents sector foresight cases from Brazil and Korea. Chapter...

  19. Regional safeguards arrangements: The Argentina-Brazil experience

    International Nuclear Information System (INIS)

    A Common System of Accounting and Control of Nuclear Material (SCCC) was established by Argentina and Brazil in July 1992. It is a full scope safeguard's system in both countries. The Brazilian-Argentine Agency for Accounting and Control of Nuclear Materials (ABACC) was created to apply the SCCC. The main elements of the SCCC are presented. The main safeguards' procedures are described. A brief discussion of the inspection methodology and its impact for facility operators is performed. The safeguard's implementation from the operator's point of view is commented, taking as example a fuel fabrication plant in Argentina and a uranium enrichment plant in Brazil. (author)

  20. 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

  1. 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

  2. Everyday narratives on race and health in Brazil.

    Science.gov (United States)

    Pagano, Anna

    2014-06-01

    In 2006, Brazil approved a groundbreaking policy aimed at reducing significant racial health inequalities among its citizens. Like health disparities programs in the United States, Brazil's policy is based on the assumptions that racial identity and racism are important health determinants and that citizens who identify as "black" suffer disproportionately from a number of health problems. How do these assumptions compare to Brazilian citizens' conceptions of racial identity and health inequalities? To address this question, I present ethnographic data from two years of fieldwork in Brazilian public clinics and low-income neighborhoods. I show that a majority of research participants made no connection between race and better or worse health. Of those who perceived health inequalities by race, most believed that white Brazilians had more health problems than black or brown Brazilians. Finally, I consider the implications of these ethnographic findings for Brazil's health disparities campaign. PMID:24719036

  3. Status [Brazil: A country profile on sustainable energy development

    International Nuclear Information System (INIS)

    The energy picture of Brazil today is that of a large, rapidly growing country in the midst of economic development with a reasonable supply of indigenous resources. Its current situation reflects its attempts to satisfy and accommodate competing needs and challenging sustainable development goals. This chapter reviews the current status of Brazil's energy system and how it developed. It is divided into four major sections: Section 2.1 presents the national energy balance; Section 2.2 assesses the country's energy status according to the economic, social and environmental dimensions of sustainable development; Section 2.3 highlights the institutional dimension of Brazil's energy system; and Section 2.4 summarizes the major issues facing that system

  4. 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.

  5. Country watch. Brazil.

    Science.gov (United States)

    Turra, M D

    1994-01-01

    Persons who are infected with human immunodeficiency virus (HIV) or who suffer from acquired immunodeficiency syndrome (AIDS) often have their civil rights violated in Brazil. To remedy this, the Candido Mendes College in Rio de Janeiro introduced a voluntary course, "AIDS - Legal Approaches", into its law curriculum. Incentive was provided by the college's Model Law Office (MLO), where students learn to defend the rights of people in need. Class size is about 25; law professors use recent magazine and newspaper articles, and documentation on lawsuits concerning persons with HIV to teach the class. Course topics include relevant civil law (suits against blood banks), contract law (suits against private health insurance companies which refuse to cover treatment expenses related to HIV or AIDS), family law, inheritance law, labor law (unjust dismissal of persons with HIV), criminal law (intentional transmission of AIDS), violations of basic human rights, and comparative jurisprudence and constitutional law (a comparison of Brazilian law in this area to the laws of other countries). Students, during their field practice periods at the MLO, provide legal assistance to persons with HIV. Approximately 150 cases have been handled, often with positive outcomes, to date. Clients hear about the program via television, radio, and newspapers. Materials and information about lawsuits handled by the MLO are available to other colleges and universities with the hope of stimulating the formation of similar programs elsewhere. PMID:12288109

  6. 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

  7. Argentina and Brazil

    International Nuclear Information System (INIS)

    This paper reports that security is defined in different ways by many international actors. To some, security is tied to the definition of an external threat to borders, as in the case of the NATO countries. To other, security is related to development, as in the case of most Third World countries. but notwithstanding different definitions, all countries recognize that the essence of security is the survival of the nation-state itself. The nuclear programs of Argentina and Brazil are among the oldest, most sophisticated and advanced nuclear programs anywhere in the Third World. The programs have never been explained on the basis of threat perception, and in this regard perhaps they constitute the most atypical form of nuclear proliferation known to date. Not surprisingly, any attempt to explain the rationale for the Brazilian and Argentine nuclear programs based on common issues of threat =merely confuses the issue. Thus, nationalism, the search for national identity and pride, the need to express self-sufficiency and the desire to keep options open in an insecure and evolving world order must all be analyzed to comprehend the likelihood of future types of nuclear proliferation. Meanwhile, the study of the contemporary era of Argentine-Brazilian nuclear rapprochement may provide new insights into the complex reasoning behind the decision of countries to go nuclear

  8. 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

  9. Brazil - Youth at Risk in Brazil

    OpenAIRE

    World Bank

    2007-01-01

    Brazilian young people are well on their way to becoming productive and contributing members of society. Three-quarters of young Brazilians surveyed responded that they are happy with themselves and with their lives. And they have the numbers to make substantial contributions to the present and future of their society -- 19 percent of the Brazilian population is aged 15 to 24 and Brazilian...

  10. Essays on Municipal Public Finance in Brazil

    OpenAIRE

    Gardner, Rachel Elizabeth

    2013-01-01

    This dissertation studies local public finance in Brazil, with a focus on how federal and state government policies affect local spending and revenue generation. In Chapter I, I provide a descriptive analysis of local public finance in Brazil, with a focus on local revenue generation. In addition to describing the system of public finance in Brazil from a municipal perspective, I discuss the major challenges facing local governments in Brazil and in other low and middle income countries and ...

  11. 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...

  12. 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...

  13. 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...

  14. Capital formation in Brazil and the electrical sector

    International Nuclear Information System (INIS)

    Some economical and political aspects of electric power investment in Brazil are presented, including the Brazilian situation in a word view; the problems of expansion in 90 decade; the capital public formation was negative; the negative saving deficit; the monthly tariff in electric power sector and the potential and costs of hydroelectric power. (C.G.C.)

  15. Laser ultrasonics in Brazil for aeronautics and space engineering

    Science.gov (United States)

    Salvi Sakamoto, João Marcos; Pacheco, Gefeson Mendes

    2010-01-01

    This work is a report bringing the experimental setup and the initial developments to establish a laser ultrasonics system at the Instituto Tecnológico de Aeronáutica in Brazil. Present-day development aim to substitute piezoelectric transducer by a high power pulsed laser to generate ultrasound.

  16. 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…

  17. 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 and...

  18. 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…

  19. Diagnostic X-ray equipment evaluation in Brazil

    International Nuclear Information System (INIS)

    A survey of the diagnostic X-ray equipment in use in Brazil is presented. Procedures for testing radiation quality (kilovoltage and filtration), tube output, beam collimation and protection devices are described and results of tests are tabulated. (H.K.)

  20. 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…

  1. 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,

  2. Physics in Brazil in the next decade: condensed matter physics

    International Nuclear Information System (INIS)

    This book gives a general overview of the present situation in Brazil, concerning research in the different areas of condensed matter physics. The main areas discussed here are: semiconductors, magnetism and magnetic materials, superconductivity liquid crystals and polymers, ceramics, glasses and crystals, statistical physics and solid state physics, crystallography, magnetic resonance and Moessbauer spectroscopy, among others. (A.C.A.S.)

  3. GENETIC DIVERSITY OF TOXOPLASMA GONDII ISOLATES FROM CHICKENS FROM BRAZIL

    Science.gov (United States)

    Until recently, Toxoplasma gondii was considered clonal with very little genetic variability. Recent studies indicate that T. gondii isolates from Brazil are genetically and biologically different from T. gondii isolates from USA and Europe. In the present study, we retyped 151 free range chicken is...

  4. 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)

  5. 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

  6. 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...

  7. 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

  8. Comparison of somatic mutation in a transgenic versus host locus.

    OpenAIRE

    Tao, K S; Urlando, C; Heddle, J A

    1993-01-01

    Somatic mutations can now be quantified in almost any cell type in mice carrying bacterial genes in a lambda phage shuttle vector. Mutations induced in vivo are detectable ex vivo, after packaging host-cell DNA into phage that are grown on suitable bacteria. However, the transgenic DNA differs from many host loci in several ways: it (i) is prokaryotic DNA, (ii) is present in multiple tandem copies, and (iii) is heavily methylated and probably not expressed. Thus, mutation of a transgene may n...

  9. 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.

  10. 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

  11. Identification of mutations associated with pyrethroid resistance in the voltage-gated sodium channel of the tomato leaf miner (Tuta absoluta).

    Science.gov (United States)

    Haddi, Khalid; Berger, Madeleine; Bielza, Pablo; Cifuentes, Dina; Field, Linda M; Gorman, Kevin; Rapisarda, Carmelo; Williamson, Martin S; Bass, Chris

    2012-07-01

    The tomato leaf miner, Tuta absoluta (Lepidoptera) is a significant pest of tomatoes that has undergone a rapid expansion in its range during the past six years and is now present across Europe, North Africa and parts of Asia. One of the main means of controlling this pest is through the use of chemical insecticides. In the current study insecticide bioassays were used to determine the susceptibility of five T. absoluta strains established from field collections from Europe and Brazil to pyrethroids. High levels of resistance to λ cyhalothrin and tau fluvalinate were observed in all five strains tested. To investigate whether pyrethroid resistance was mediated by mutation of the para-type sodium channel in T. absoluta the IIS4-IIS6 region of the para gene, which contains many of the mutation sites previously shown to confer knock down (kdr)-type resistance to pyrethroids across a range of different arthropod species, was cloned and sequenced. This revealed that three kdr/super-kdr-type mutations (M918T, T929I and L1014F), were present at high frequencies within all five resistant strains at known resistance 'hot-spots'. This is the first description of these mutations together in any insect population. High-throughput DNA-based diagnostic assays were developed and used to assess the prevalence of these mutations in 27 field strains from 12 countries. Overall mutant allele frequencies were high (L1014F 0.98, M918T 0.35, T929I 0.60) and remarkably no individual was observed that did not carry kdr in combination with either M918T or T929I. The presence of these mutations at high frequency in T. absoluta populations across much of its range suggests pyrethroids are likely to be ineffective for control and supports the idea that the rapid expansion of this species over the last six years may be in part mediated by the resistance of this pest to chemical insecticides. PMID:22504519

  12. 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.

  13. 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.

  14. 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.

  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. 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

  17. 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

  18. Detection of heterozygous MDR1 nt230(del4 mutation in a mixed-breed dog: case report of possible doxorubicin toxicosis

    Directory of Open Access Journals (Sweden)

    Monobe MM

    2013-10-01

    Full Text Available Marina Mitie Monobe,1 Kari V Lunsford,2 João Pessoa Araújo Jr,3 Camilo Bulla41Department of Veterinary Clinics, School of Veterinary Medicine and Animal Science, Sao Paulo State University, Botucatu, Brazil; 2Department of Clinical Sciences and Animal Health Center, College of Veterinary Medicine, Mississippi State University, MS, USA; 3Department of Microbiology and Immunology, Biosciences Institute, Sao Paulo State University, Botucatu, Brazil; 4Department of Pathobiology and Population Medicine, College of Veterinary Medicine, Mississippi State University, MS, USAAbstract: P-glycoprotein (ABCB1, the product of the Multidrug Resistance Gene (MDR1 (ABCB1 gene, is the major multidrug transporter contributing to the barrier function of several tissues and organs, including the brain. A four base pair deletion mutation in MDR1 results in the absence of a functional form of ABCB1 and loss of its protective function. Severe intoxication with the ABCB1 substrate, such as with anticancer drugs, has been attributed to genetic lack of functional ABCB1. This mutation has been detected in more than 10 dog breeds as well as in mixed-breed dogs living in different countries. In Brazil, evaluation for this mutation is not as widely available and is rarely used by veterinarians, so drug intoxication may be underdiagnosed. This is the first report from Brazil of doxorubicin neurotoxicity in a mixed-breed dog with the MDR1 nt230(del4 mutation.Keywords: canine, toxicology, cancer, P-glycoprotein

  19. 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

  20. 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

  1. Twenty-eight years of Aedes albopictus in Brazil: a rationale to maintain active entomological and epidemiological surveillance

    Directory of Open Access Journals (Sweden)

    Filipe Gabriel Menezes Pancetti

    2015-02-01

    Full Text Available INTRODUCTION: Aedes albopictus was first detected in Brazil in 1986. This mosquito species presents a major threat to public health because Brazilian populations have shown substantial vector competence for arboviruses such as dengue and chikungunya. METHODS: We updated the records of Ae. albopictus in several States of Brazil, focusing on areas in which its presence had been reported after 2002. RESULTS: Twenty-eight years after its arrival in Brazil, Ae. albopictus has been detected in 24 of 27 States. CONCLUSIONS: The rapid spread of this species and its high vector competence demonstrate the danger of Ae. albopictus in Brazil.

  2. Estimation of mutation rates from paternity cases using a Bayesian network

    DEFF Research Database (Denmark)

    Vicard, P.; Dawid, A.P.; Mortera, J.; Lauritzen, Steffen Lilholt

    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...

  3. 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 ...

  4. 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.

  5. Induced mutations in castor

    International Nuclear Information System (INIS)

    Castor (Ricinus communis L.) is an important oilseed crop in India. To create variability mutations were induced in two cultivars 'TMV5' (maturing in 130-140 days) and 'CO1' (perennial type). Gamma rays and diethyl sulphate and ethidium bromide were used for seed treatment. Ten doses, from 100 to 1000 Gy were employed. For chemical mutagenesis five concentrations of mutagenes from 10 to 50 mM were tried. No economic mutants could be isolated after treatment with the chemical mutagens. The following economic mutants were identified in the dose 300 Gy of gamma rays. Annual types from perennial CO 1 castor CO 1 is a perennial variety (8-10 years) with bold seeds (100 seed weight 90 g) and high oil content (57%). Twenty-one lines were isolated with annual types (160-180 days) with high yield potential as well as bold seeds and high oil content. These mutants, identified in M3 generation were bred true in subsequent generations up to M8 generation. Critical evaluation of the mutants in yield evaluation trials is in progress

  6. 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

  7. Consumers' healthcare rights in Brazil.

    Science.gov (United States)

    Schmidt, M J

    1996-01-01

    In many countries the rights of patients and consumers of health services are gaining ground and becoming law. As elsewhere, consumers in Brazil are becoming increasingly knowledgeable and demanding respect for their rights. Yet many Brazilian health services--public and private--are still reluctant to accept public evaluation and criticism. But with Brazil's new consumer's code the stage is set for a more active role of patients in their health decisions and for nurses and health professionals to acquiesce to consumers' dissatisfaction and respond with improved professional performance. PMID:8894838

  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

    International Nuclear Information System (INIS)

    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 involving oxidized DNA

  11. 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

  12. mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural Proteome.

    Science.gov (United States)

    Meyer, Michael J; Lapcevic, Ryan; Romero, Alfonso E; Yoon, Mark; Das, Jishnu; Beltrán, Juan Felipe; Mort, Matthew; Stenson, Peter D; Cooper, David N; Paccanaro, Alberto; Yu, Haiyuan

    2016-05-01

    A new algorithm and Web server, mutation3D (http://mutation3d.org), proposes driver genes in cancer by identifying clusters of amino acid substitutions within tertiary protein structures. We demonstrate the feasibility of using a 3D clustering approach to implicate proteins in cancer based on explorations of single proteins using the mutation3D Web interface. On a large scale, we show that clustering with mutation3D is able to separate functional from nonfunctional mutations by analyzing a combination of 8,869 known inherited disease mutations and 2,004 SNPs overlaid together upon the same sets of crystal structures and homology models. Further, we present a systematic analysis of whole-genome and whole-exome cancer datasets to demonstrate that mutation3D identifies many known cancer genes as well as previously underexplored target genes. The mutation3D Web interface allows users to analyze their own mutation data in a variety of popular formats and provides seamless access to explore mutation clusters derived from over 975,000 somatic mutations reported by 6,811 cancer sequencing studies. The mutation3D Web interface is freely available with all major browsers supported. PMID:26841357

  13. FTL mutation in a Chinese pedigree with neuroferritinopathy.

    Science.gov (United States)

    Ni, Wang; Li, Hong-Fu; Zheng, Yi-Cen; Wu, Zhi-Ying

    2016-06-01

    Neuroferritinopathy is a rare autosomal dominant movement disorder caused by mutations of the FTL gene.(1) It is clinically characterized by adult-onset progressive extrapyramidal syndrome, including chorea, dystonia, and parkinsonism.(2) Brain MRI demonstrates the deposition of iron and ferritin in the basal ganglia.(3) To date, several Caucasian families and 2 Japanese families have been reported worldwide.(2) We present a Chinese neuroferritinopathy pedigree with 5 patients and the FTL mutation. PMID:27158664

  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. Clinical potential of gene mutations in lung cancer

    OpenAIRE

    Carper, Miranda B.; Claudio, Pier Paolo

    2015-01-01

    Lung cancer is the most common cancer type worldwide and the leading cause of cancer related deaths in the United States. The majority of newly diagnosed patients present with late stage metastatic lung cancer that is inoperable and resistant to therapies. High-throughput genomic technologies have made the identification of genetic mutations that promote lung cancer progression possible. Identification of the mutations that drive lung cancer provided new targets for non-small cell lung cancer...

  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. Chemical correlations in Caetite (BA) region, Brazil

    International Nuclear Information System (INIS)

    Brazil's economic situation is responsible for an urgent demand for energy. There are several ways to generate energy, in some localities of our country, energy generation occurs almost exclusively by nuclear route, as in Rio de Janeiro state. Brazil has the sixth largest reserve of the uranium ore in the world. Nowadays there is only one mine under exploration (Uraniferous District of Lagoa Real - Caetite-BA). Unfortunately, nuclear power generation is better known, by common citizen, more for its unwanted effects than for its benefits. This fact is also powered by some Non-Governmental Organizations (NGOs), such as Greenpeace, who claim the uranium mine is dangerous since it causes environmental contamination. However, Industrias Nucleares do Brasil (INB) rejected these accusations. In a previous study, we demonstrated that doses of the Caetite (BA) population are consistent with those usually found in other countries. We stated also the higher concentration of 238U determined, in only one water sample, is probably due to natural processes, as soil leaching. In order to verify the existing natural processes, macro and micro chemical elements present in water and soil samples collected in the Caetite (BA) region were determined by ICP-MS. The results were transformed into dendrograms where chemical correlations are evidenced and they are consistent with existing natural chemical processes. It was also possible to observe a correlation between samples corroborating with the Geographic Information Systems data to be presented in this same scientific event. (author)

  18. 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.

  19. 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.

  20. Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma

    International Nuclear Information System (INIS)

    The genetics of advanced biliary tract cancers (BTC), which encompass intra- and extra-hepatic cholangiocarcinomas as well as gallbladder carcinomas, are heterogeneous and remain to be fully defined. To better characterize mutations in established known oncogenes and tumor suppressor genes we tested a mass spectrometric based platform to interrogate common cancer associated mutations across a panel of 77 formalin fixed paraffin embedded archived BTC cases. Mutations among three genes, KRAS, NRAS and PIK3CA were confirmed in this cohort. Activating mutations in PIK3CA were identified exclusively in GBC (4/32, 12.5%). KRAS mutations were identified in 3 (13%) intra-hepatic cholangiocarcinomas and 1 (33%) perihillar cholangiocarcinoma but were not identified in gallbladder carcinomas and extra-hepatic cholangiocarcinoma. The presence of activating mutations in PIK3CA specifically in GBC has clinical implications in both the diagnosis of this cancer type, as well as the potential utility of targeted therapies such as PI3 kinase inhibitors

  1. 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.

  2. Delineation of the movement disorders associated with FOXG1 mutations

    Science.gov (United States)

    Papandreou, Apostolos; Schneider, Ruth B.; Augustine, Erika F.; Ng, Joanne; Mankad, Kshitij; Meyer, Esther; McTague, Amy; Ngoh, Adeline; Hemingway, Cheryl; Robinson, Robert; Varadkar, Sophia M.; Kinali, Maria; Salpietro, Vincenzo; O'Driscoll, Margaret C.; Basheer, S. Nigel; Webster, Richard I.; Mohammad, Shekeeb S.; Pula, Shpresa; McGowan, Marian; Trump, Natalie; Jenkins, Lucy; Elmslie, Frances; Scott, Richard H.; Hurst, Jane A.; Perez-Duenas, Belen; Paciorkowski, Alexander R.

    2016-01-01

    Objective: The primary objective of this research was to characterize the movement disorders associated with FOXG1 mutations. Methods: We identified patients with FOXG1 mutations who were referred to either a tertiary movement disorder clinic or tertiary epilepsy service and retrospectively reviewed medical records, clinical investigations, neuroimaging, and available video footage. We administered a telephone-based questionnaire regarding the functional impact of the movement disorders and perceived efficacy of treatment to the caregivers of one cohort of participants. Results: We identified 28 patients with FOXG1 mutations, of whom 6 had previously unreported mutations. A wide variety of movement disorders were identified, with dystonia, choreoathetosis, and orolingual/facial dyskinesias most commonly present. Ninety-three percent of patients had a mixed movement disorder phenotype. In contrast to the phenotype classically described with FOXG1 mutations, 4 patients with missense mutations had a milder phenotype, with independent ambulation, spoken language, and normocephaly. Hyperkinetic involuntary movements were a major clinical feature in these patients. Of the symptomatic treatments targeted to control abnormal involuntary movements, most did not emerge as clearly beneficial, although 4 patients had a caregiver-reported response to levodopa. Conclusions: Abnormal involuntary movements are a major feature of FOXG1 mutations. Our study delineates the spectrum of movement disorders and confirms an expanding clinical phenotype. Symptomatic treatment may be considered for severe or disabling cases, although further research regarding potential treatment strategies is necessary. PMID:27029630

  3. 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

  4. 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.

  5. Exome mutation burden predicts clinical outcome in ovarian cancer carrying mutated BRCA1 and BRCA2 genes

    DEFF Research Database (Denmark)

    Birkbak, Nicolai Juul; Kochupurakkal, Bose; Gonzalez-Izarzugaza, Jose Maria;

    2013-01-01

    Reliable biomarkers predicting resistance or sensitivity to anti-cancer therapy are critical for oncologists to select proper therapeutic drugs in individual cancer patients. Ovarian and breast cancer patients carrying germline mutations in BRCA1 or BRCA2 genes are often sensitive to DNA damaging......-type BRCA1 and BRCA2 genes. These results suggest that in cancers with DNA repair deficiency caused by functional BRCA loss, higher versus lower Nmut may reflect the status of deficiency or rescue by alternative mechanism(s) for DNA repair, with lower Nmut predicting for resistance to DNA-damaging drugs in...... drugs and relative to non-mutation carriers present a favorable clinical outcome following therapy. Genome sequencing studies have shown a high number of mutations in the tumor genome in patients carrying BRCA1 or BRCA2 mutations (mBRCA). The present study used exome-sequencing and SNP 6 array data of...

  6. 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 ...

  7. Making the case for grid-connected photovoltaics in Brazil

    International Nuclear Information System (INIS)

    In the developed world, grid-connected photovoltaics (PVs) are the fastest-growing segment of the energy market. From 1999 to 2009, this industry had a 42% compound annual growth-rate. From 2009 to 2013, it is expected to grow to 45%, and in 2013 the achievement of grid parity - when the cost of solar electricity becomes competitive with conventional retail (including taxes and charges) grid-supplied electricity - is expected in many places worldwide. Grid-connected PV is usually perceived as an energy technology for developed countries, whereas isolated, stand-alone PV is considered as more suited for applications in developing nations, where so many individuals still lack access to electricity. This rationale is based on the still high costs of PV when compared with conventional electricity. We make the case for grid-connected PV generation in Brazil, showing that with the declining costs of PV and the rising prices of conventional electricity, urban populations in Brazil will also enjoy grid parity in the present decade. We argue that governments in developing nations should act promptly and establish the mandates and necessary conditions for their energy industry to accumulate experience in grid-connected PV, and make the most of this benign technology in the near future. - Research highlights: → With the declining costs of PV and the rising prices of conventional electricity, Brazil will soon enjoy grid parity. → The availability of raw materials (Si and green electricity) make Brazil an ideal candidate to become an important player in the PV production scenario. → A feed-in tariff program in Brazil should be limited in time and size. → A feed-in tariff program in Brazil should be large enough to stimulate the local market, but it should at the same time be small enough in order not to impose a large financial burden to consumers.

  8. NPM1, FLT3, and c-KIT mutations in pediatric acute myeloid leukemia in Russian population.

    Science.gov (United States)

    Yatsenko, Yuliya; Kalennik, Olga; Maschan, Mikhail; Kalinina, Irina; Maschan, Alexey; Nasedkina, Tatyana

    2013-04-01

    We evaluated frequencies of NPM1, FLT3, c-KIT mutations in childhood acute myeloid leukemia (AML) in Russia and assessed prognostic relevance of the mutations. RNA and DNA were extracted from bone marrow samples of 186 (106 male and 80 female) pediatric patients younger than 17 year with de novo AML. Mutations and chromosomal rearrangements were detected by sequencing of a corresponding gene. NPM1 mutations were found in 5.2%, FLT3 mutations in 12.1%, c-KIT mutations in 3.7% of the patients. NPM1 mutations were associated with the absence of chromosomal aberrations (P=0.007) and FLT3/ITD (P=0.018). New data on incidence of c-KIT mutations in various AML subtypes as well as new variations of c-KIT mutations in the exon 8 are presented. The results are compared to previously published studies on NPM1, FLT3, c-KIT mutations in various populations. No statistically significant differences in survival rates between groups with or without of FLT3, NPM1, c-KIT mutations were found (P>0.05). Meanwhile, 4-year overall survival rates were higher in patients having NPM1 mutations comparing with NPM1/WT patients (100% vs. 50%) and in patients having FLT3 mutations comparing with FLT3/WT patients (70% vs. 50%). The data presented contribute to knowledge on incidence and prognostic significance of the mutations in pediatric AML. PMID:23511494

  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. Major gene mutations and domestication of plants

    International Nuclear Information System (INIS)

    From the approximately 200,000 species of flowering plants known, only about 200 have been domesticated. The process has taken place in many regions over long periods. At present there is great interest in domesticating new species and developing new uses for existing ones in order to supply needed food, industrial raw materials, etc. It is proposed that major gene mutations were important in domestication; many key characters distinguishing cultivated from related wild species are controlled by one or very few major genes. The deliberate effort to domesticate new species requires at least the following: identification of needs and potential sources, establishment of suitable niches, choice of taxa to be domesticated, specification of the desired traits and key characters to be modified, as well as the potential role of induced mutations. (author). 14 refs

  11. 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

  12. 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.

  13. 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

  14. 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...

  15. Rice Breeding with Induced Mutation

    International Nuclear Information System (INIS)

    A plant breeder may utilize the genetic variability from available natural resources, he may build up variability through hybridization, he can induce variability through mutagen treatments or he may use a combination of any of the three for the improvement of crop plants. A number of improved varieties of rice have been developed through mutation breeding. It is shown, how a breeder may utilize mutation induction to achieve successfully his breeding objectives. (author)

  16. 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.

  17. 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

  18. 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

  19. 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.

  20. 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.