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Sample records for brazil presenting mutations

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

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    Hutz-Midgett, Aida; Hutz, Claudio Simon

    2012-01-01

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

  2. Clinical disease presentation and ECG characteristics of LMNA mutation carriers

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    Ollila, Laura; Nikus, Kjell; Holmström, Miia; Jalanko, Mikko; Jurkko, Raija; Kaartinen, Maija; Koskenvuo, Juha; Kuusisto, Johanna; Kärkkäinen, Satu; Palojoki, Eeva; Reissell, Eeva; Piirilä, Päivi; Heliö, Tiina

    2017-01-01

    Objective Mutations in the LMNA gene encoding lamins A and C of the nuclear lamina are a frequent cause of cardiomyopathy accounting for 5–8% of familial dilated cardiomyopathy (DCM). Our aim was to study disease onset, presentation and progression among LMNA mutation carriers. Methods Clinical follow-up data from 27 LMNA mutation carriers and 78 patients with idiopathic DCM without an LMNA mutation were collected. In addition, ECG data were collected and analysed systematically from 20 healthy controls. Results Kaplan-Meier analysis revealed no difference in event-free survival (death, heart transplant, resuscitation and appropriate implantable cardioverter-defibrillator therapy included as events) between LMNA mutation carriers and DCM controls (p=0.5). LMNA mutation carriers presented with atrial fibrillation at a younger age than the DCM controls (47 vs 57 years, p=0.003). Male LMNA mutation carriers presented with clinical manifestations roughly a decade earlier than females. In close follow-up non-sustained ventricular tachycardia was detected in 78% of LMNA mutation carriers. ECG signs of septal remodelling were present in 81% of the LMNA mutation carriers, 21% of the DCM controls and none of the healthy controls giving a high sensitivity and specificity for the standard ECG in distinguishing LMNA mutation carriers from patients with DCM and healthy controls. Conclusions Male LMNA mutation carriers present clinical manifestations at a younger age than females. ECG septal remodelling appears to distinguish LMNA mutation carriers from healthy controls and patients with DCM without LMNA mutations. PMID:28123761

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

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

    2016-05-13

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

  4. Progranulin gene mutation with an unusual clinical and neuropathologic presentation.

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    Wider, Christian; Uitti, Ryan J; Wszolek, Zbigniew K; Fang, John Y; Josephs, Keith A; Baker, Matthew C; Rademakers, Rosa; Hutton, Michael L; Dickson, Dennis W

    2008-06-15

    Progranulin gene (PGRN) mutations cause frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U). Patients usually present with a frontotemporal dementia syndrome and have prominent atrophy and neuronal loss in frontal and temporal cortices and the striatum, with neuronal intranuclear and cytoplasmic inclusions. Clinical, neuropathological, and genetic studies are reported on an individual with PGRN mutation and her family members. We describe a patient with a PGRN c.26C>A mutation who presented with progressive stuttering dysarthria, oculomotor abnormalities, choreic buccolingual movements, and mild parkinsonism. Two other family members were affected, one with a behavioral variant frontotemporal dementia syndrome, the other with a diagnosis of probable Alzheimer's disease. At autopsy there was no neuronal loss in the cortex or medial temporal lobe structures, but there was striatal gliosis. Immunohistochemistry for ubiquitin and TDP-43 revealed neuronal cytoplasmic and intranuclear inclusions as well as neurites. This study further expands the clinical and pathological spectrum of PGRN mutations, and suggests the diagnosis could be missed in some individuals with atypical presentations.

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

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

    2015-09-01

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

  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. European Direct Investment in Brazil, 1860 to the Present

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    Âmara Fuccio de Fraga e Silva

    2010-09-01

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

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

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

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    Sérgio de Oliveira Birchal

    2010-09-01

    Full Text Available European direct investment in Brazil dates back to the discovery of the country and has been since then either hegemonic or more important than a superficial observation can grasp, as this work aims at showing. During the 20th century, the United States has replaced Britain as the world’s economic superpower and the largest direct investor. US dominance in the world economy and geographical proximity to Brazil would suggest that US investments were by far the largest in the country during that century. Furthermore, as Japan had become the second largest economy in the world in the 1980s, we would expect that this would be reflected in the data of the largest multinationals in Brazil. However, as our investigation suggests, Western European direct investment has been as large (and in many occasions even larger as that of the USA and Japanese firms have never had a prominent presence among the largest firms in Brazil, at least until the late 1990s.

  9. DNMT3A Mutations in Patients with Acute Myeloid Leukemia in South Brazil

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    Annelise Pezzi

    2012-01-01

    Full Text Available Acute myeloid leukemia (AML is a complex and heterogeneous hematopoietic tissue neoplasm. Several molecular markers have been described that help to classify AML patients into risk groups. DNA methyltransferase 3A (DNMT3A gene mutations have been recently identified in about 22% of AML patients and associated with poor prognosis as an independent risk factor. Our aims were to determine the frequency of somatic mutations in the gene DNMT3A and major chromosomal translocations in a sample of patients with AML. We investigated in 82 samples of bone marrow from patients with AML for somatic mutations in DNMT3A gene by sequencing and sought major fusion transcripts by RT-PCR. We found mutations in the DNMT3A gene in 6 patients (8%; 3 were type R882H. We found fusion transcripts in 19 patients, namely, AML1/ETO (n=5; 6.1%, PML/RARα (n=12; 14.6%, MLL/AF9 (0; 0%, and CBFβ/MYH11 (n=2; 2.4%. The identification of recurrent mutations in the DNMT3A gene and their possible prognostic implications can be a valuable tool for making treatment decisions. This is the first study on the presence of somatic mutations of the DNMT3A gene in patients with AML in Brazil. The frequency of these mutations suggests a possible ethnogeographic variation.

  10. Hepatitis B virus genotypes and resistance mutations in patients under long term lamivudine therapy: characterization of genotype G in Brazil

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    Brandão Carlos E

    2008-01-01

    Full Text Available Abstract Background Lamivudine is an oral nucleoside analogue widely used for the treatment of chronic hepatitis B. The main limitation of lamivudine use is the selection of resistant mutations that increases with time of utilization. Hepatitis B virus (HBV isolates have been classified into eight genotypes (A to H with distinct geographical distributions. HBV genotypes may also influence pathogenic properties and therapeutic features. Here, we analyzed the HBV genotype distribution and the nature and frequency of lamivudine resistant mutations among 36 patients submitted to lamivudine treatment for 12 to 84 months. Results Half of the patients were homosexual men. Only 4/36 (11% patients were HBV DNA negative. As expected for a Brazilian group, genotypes A (24/32 positive individuals, 75%, D (3/32, 9.3% and F (1/32, 3% were present. One sample was from genotype C, which is a genotype rarely found in Brazil. Three samples were from genotype G, which had not been previously detected in Brazil. Lamivudine resistance mutations were identified in 20/32 (62% HBV DNA positive samples. Mean HBV loads of patients with and without lamivudine resistance mutations were not very different (2.7 × 107 and 6.9 × 107 copies/mL, respectively. Fifteen patients showed the L180M/M204V lamivudine resistant double mutation. The triple mutant rt173V/180M/204V, which acts as a vaccine escape mutant, was found in two individuals. The three isolates of genotype G were entirely sequenced. All three showed the double mutation L180M/M204V and displayed a large genetic divergence when compared with other full-length genotype G isolates. Conclusion A high (55% proportion of patients submitted to long term lamivudine therapy displayed resistant mutations, with elevated viral load. The potential of transmission of such HBV mutants should be monitored. The identification of genotypes C and G, rarely detected in South America, seems to indicate a genotype distribution different

  11. Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation

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    N. Magdalena

    2005-05-01

    Full Text Available Fanconi anemia (FA is an autosomal recessive genetic disease characterized by progressive bone marrow failure, susceptibility to cancer and multiple congenital anomalies. There is important clinical variability among patients and the knowledge of factors which might predict outcome would greatly help the decision making regarding the choices of treatment and the appropriate time to start it. Future studies of the possible correlation between specific mutations with specific clinical presentations will provide the answer to one of these factors. At our Center we standardized a rapid and precise screening test using a mismatch PCR assay for a specific mutation (3788-3790del in exon 38 of gene FANCA in Brazilian FA patients. We present the results obtained after screening 80 non-consanguineous FA patients referred from all regions of Brazil with a clinical diagnosis of FA supported by cellular hypersensitivity to diepoxybutane. We were able to detect the 3788-3790del allele in 24 of the 80 (30% FA patients studied. Thirteen of the 80 (16.25% were homozygotes and 11 of the 80 (13.75% were compound heterozygotes, thus confirming the high frequency of the FANCA 3788-3790del mutation in Brazilian FA patients. The identification of patients with specific mutations in the FA genes may lead to a better clinical description of this condition, also providing data for genotype-phenotype correlations, to a better understanding of the interaction of this specific mutation with other mutations in compound heterozygote patients, and ultimately to the right choices of treatment for each patient with improvement of the prognosis on future studies.

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

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

    2015-01-01

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

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

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    Carmen Andréa F. Lopes

    2015-01-01

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

  14. 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.

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

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

    2016-01-01

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

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

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

    2011-01-01

    This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49¿500. Among routinely used diagnostic tests, none were consiste......This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49¿500. Among routinely used diagnostic tests, none were...

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

    DEFF Research Database (Denmark)

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

    2011-01-01

    This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49 500. Among routinely used diagnostic tests, none were consiste......This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49 500. Among routinely used diagnostic tests, none were...

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

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    Pinar, William F., Ed.

    2011-01-01

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

  19. Mutational and acquired carbapenem resistance mechanisms in multidrug resistant Pseudomonas aeruginosa clinical isolates from Recife, Brazil

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    Cavalcanti, Felipe Lira de Sá; Mirones, Cristina Rodríguez; Paucar, Elena Román; Montes, Laura Álvarez; Leal-Balbino, Tereza Cristina; de Morais, Marcia Maria Camargo; Martínez-Martínez, Luis; Ocampo-Sosa, Alain Antonio

    2015-01-01

    An investigation was carried out into the genetic mechanisms responsible for multidrug resistance in nine carbapenem-resistant Pseudomonas aeruginosaisolates from different hospitals in Recife, Brazil. Susceptibility to antimicrobial agents was determined by broth microdilution. Polymerase chain reaction (PCR) was employed to detect the presence of genes encoding β-lactamases, aminoglycoside-modifying enzymes (AMEs), 16S rRNA methylases, integron-related genes and OprD. Expression of genes coding for efflux pumps and AmpC cephalosporinase were assessed by quantitative PCR. The outer membrane proteins were separated by sodium dodecyl sulfate-polyacrylamide gel electrophoresis. The blaSPM-1, blaKPC-2 and blaGES-1 genes were detected in P. aeruginosaisolates in addition to different AME genes. The loss of OprD in nine isolates was mainly due to frameshift mutations, premature stop codons and point mutations. An association of loss of OprD with the overexpression of MexAB-OprM and MexXY-OprM was observed in most isolates. Hyper-production of AmpC was also observed in three isolates. Clonal relationship of the isolates was determined by repetitive element palindromic-PCR and multilocus sequence typing. Our results show that the loss of OprD along with overexpression of efflux pumps and β-lactamase production were responsible for the multidrug resistance in the isolates analysed. PMID:26676375

  20. 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

  1. Mutations in the rpoB gene of rifampicin-resistant Mycobacterium tuberculosis strains isolated in Brazil and France

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    S Spindola de Miranda

    2001-02-01

    Full Text Available We evaluated the mutations in a 193bp of the rpoB gene by automated sequencing of rifampicin (RMP-resistant and susceptible Mycobacterium tuberculosis strains isolated from Brazil (25 strains and France (37 strains. In RMP-resistant strains, mutations were identified in 100% (16/16 from France and 89% (16/18 from Brazil. No mutation was detected in the 28 RMP-susceptible strains. Among RMP-resistant or RMP-susceptible strains deletion was observed. A double point mutation which had not been reported before was detected in one strain from France. Among French resistant strains mutations were found in codons 531 (31.2%, 526, 513 and 533 (18.7% each. In Brazilian strains the most common mutations were in codons 531 (72.2%, 526 (11.1% and 513 (5.5%. The heterogeneity found in French strains may be related to the fact that most of those strains were from African or Asian patients.

  2. Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation.

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    Fruhman, Gary; Landsverk, Megan L; Lotze, Timothy E; Hunter, Jill V; Wangler, Michael F; Adesina, Adekunle M; Wong, Lee-Jun C; Scaglia, Fernando

    2011-06-01

    Leber hereditary optic neuropathy (LHON) is caused by point mutations in mitochondrial DNA (mtDNA), and is characterized by bilateral, painless sub-acute visual loss that develops during the second decade of life. Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R340H) in the MTND4 gene usually observed in patients with LHON. This case is unusual for age of onset, gender, associated neurological findings and evolution, further expanding the clinical spectrum associated with primary LHON mtDNA mutations.

  3. Mutation rate estimates for 13 STR loci in a large population from Rio Grande do Sul, Southern Brazil.

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    Mardini, Ana Carolina; Rodenbusch, Rodrigo; Schumacher, Simone; Chula, Fernanda Goulart Lanes; Michelon, Candice Tosi; Gastaldo, André Zoratto; Maciel, Lila Partichelli; de Matos Almeida, Sabrina Esteves; da Silva, Cláudia Maria Dornelles

    2013-01-01

    Short tandem repeat (STR) polymorphisms have been extensively used in forensic genetics analysis. Knowledge about the locus-specific mutation rates of STRs improves forensic probability calculations and interpretations of diversity data. To incorporate single-locus diversity information into autosomal STR mutation rate estimations, 13 STR loci were studied during 2007-2009 in 10,959 paternity investigation cases from Rio Grande do Sul, the southernmost state of Brazil, covering an overall number of 284,934 allelic transfers. A total of 355 mutations were identified; 348 repeats were gains or losses of one step, three were gains or losses of two steps, and four were gains or losses of not stepwise mutation. The mutation rates ranged from 4.6 × 10(-5) to 2.3 × 10(-3), and the overall mutation rate estimate was 1.2 × 10(-3). The average of the paternal mutation rate (1.8 × 10(-3)) was five times higher than the maternal rate (0.36 × 10(-3)). The observed mutational features for STRs have important consequences for forensic applications, including the definition of criteria for exclusion in paternity testing and the interpretation of DNA profiles in identification analysis.

  4. Antiviral therapy against chronic hepatitis B in Brazil: high rates of lamivudine resistance mutations and correlation with HBV genotypes

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    Francisco Campello do Amaral Mello

    2012-05-01

    Full Text Available The effectiveness of antiviral treatments of chronic hepatitis B has been poorly studied in Brazil. Here, hepatitis B virus (HBV DNA positivity, drug resistance mutations and their association with HBV genotypes were evaluated in chronically HBV-infected patients under different drug regimens in Brazil. The study involved 129 patients under interferon or nucleos(tide analogue therapy for a median treatment time of 12 months. One hundred and five (81% of these patients were treated with lamivudine (LAM, either in monotherapy or in combination with newer drugs, such as entecavir (ETV or tenofovir (TDF. High (37.5-100% rates of HBV DNA positivity were observed with all but one drug regimen (LAM + ETV. However, patients that were treated with ETV alone, TDF alone or with LAM combination therapies had a mean viral load that was 3-4 log lower than patients treated with LAM monotherapy. Of the patients treated with LAM, 47% developed resistance mutations. HBV genotypes A (59.1%, D (30.3% and F (9.1% were found. There was no association between the presence of LAM resistance mutations and genotypes, HBeAg status or treatment duration. Nevertheless, the rtM204V mutation was observed more frequently (12/13, 92% in genotype A than in the others (p = 0.023. Six out of nine isolates that contained the rtM204I mutation belonged to genotype D and half of them displayed a single mutation. Genotype D isolates with the rtM204V variant preferentially displayed a triple mutation, while genotype A preferentially displayed a double mutation (p = 0.04.

  5. 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.

  6. PROP1 gene mutations in a 36-year-old female presenting with psychosis

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    Durgesh Prasad Chaudhary

    2017-03-01

    Full Text Available Combined pituitary hormonal deficiency (CPHD is a rare disease that results from mutations in genes coding for transcription factors that regulate the differentiation of pituitary cells. PROP1 gene mutations are one of the etiological diagnoses of congenital panhypopituitarism, however symptoms vary depending on phenotypic expression. We present a case of psychosis in a 36-year-old female with congenital panhypopituitarism who presented with paranoia, flat affect and ideas of reference without a delirious mental state, which resolved with hormone replacement and antipsychotics. Further evaluation revealed that she had a homozygous mutation of PROP1 gene. In summary, compliance with hormonal therapy for patients with hypopituitarism appears to be effective for the prevention and treatment of acute psychosis symptoms.

  7. Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation.

    Science.gov (United States)

    Tripodi, Serena Ilaria; Mazza, Cinzia; Moratto, Daniele; Ramenghi, Ugo; Caorsi, Roberta; Gattorno, Marco; Badolato, Raffaele

    2016-09-01

    Herein we describe the case of a 8-years-old boy with diagnosis of atypical autoimmune lymphoproliferative syndrome (ALPS), carrying heterozygous mutation of CASP10 gene (I406L). He presented with multiple non-invasive infections of the skin, that were associated to chronic non-malignant non-infectious lymphadenopathy, failure to thrive, weakness, arthralgia, relapsing oral aftosis, and expansion of TCRαβ(+) CD4(-)/CD8(-) T cells. This observation suggests that cutaneous infections can be observed in ALPS patients carrying CASP10 mutations.

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

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    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.

  9. A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia

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    Tonyushkina Ksenia N

    2012-05-01

    Full Text Available Abstract Background Familial Hypocalciuric Hypercalcemia (FHH is a generally benign disorder caused by heterozygous inactivating mutations in the Calcium-Sensing Receptor (CaSR gene resulting in altered calcium metabolism. Objective We report a case of unusually severe neonatal FHH due to a novel CaSR gene mutation that presented with perinatal fractures and moderate hypercalcemia. Case overview A female infant was admitted at 2 weeks of age for suspected non-accidental trauma (NAT. Laboratory testing revealed hypercalcemia (3.08 mmol/L, elevated iPTH (20.4 pmol/L and low urinary calcium clearance (0.0004. Radiographs demonstrated multiple healing metaphyseal and rib fractures and bilateral femoral bowing. The femoral deformity and stage of healing were consistent with prenatal injuries rather than non-accidental trauma (NAT. Treatment was initiated with cholecalciferol, 400 IU/day, and by 6 weeks of age, iPTH levels had decreased into the high-normal range. Follow up radiographs demonstrated marked improvement of bone lesions by 3 months. A CaSR gene mutation study showed heterozygosity for a T>C nucleotide substitution at c.1664 in exon 6, resulting in amino acid change I555T in the extracellular domain consistent with a missense mutation. Her mother does not carry the mutation and the father is unknown. At 18 months of age, the child continues to have relative hyperparathyroidism and moderate hypercalcemia but is otherwise normal. Conclusion This neonate with intrauterine fractures and demineralization, moderate hypercalcemia and hyperparathyroidism was found to have a novel inactivating missense mutation of the CaSR not detected in her mother. Resolution of bone lesions and reduction of hyperparathyroidism was likely attributable to the natural evolution of the disorder in infancy as well as the mitigating effect of cholecalciferol treatment.

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

    Science.gov (United States)

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

    2013-08-01

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

  11. Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.

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    Kim, Soo Yeon; Choi, Sun Ah; Lee, Sangmoon; Lee, Jin Sook; Hong, Che Ry; Lim, Byung Chan; Kang, Hyoung Jin; Kim, Ki Joong; Park, Sung-Hye; Choi, Murim; Chae, Jong-Hee

    2016-11-01

    Farber disease is a very rare autosomal recessive disease caused by mutation of ASAH1 that results in the accumulation of ceramide in various tissues. Clinical symptoms of classic Farber disease comprise painful joint deformity, hoarseness of voice, and subcutaneous nodules. Here, we describe a patient with Farber disease with atypical presentation of early onset hypotonia, sacral mass, congenital heart disease, and dysmorphic face since birth. Severe cognitive disability, failure to gain motor skills, failure to thrive, and joint contractures developed. Using whole-exome sequencing, we identified the compound heterozygote missense mutations of ASAH1 (p.R333C and p.G235R). Because of the diagnostic delay, she underwent sacral mass excision, which revealed enlarged lysosomes and zebra bodies. We report an atypical presentation of Farber disease with her pathology and associated genetic defect. This case expands the phenotypic spectrum of Farber disease to include novel mutations of ASAH1, which pose a diagnostic challenge. We also discuss the clinical utility of whole-exome sequencing for diagnosis of ultra-rare diseases. © 2016 Wiley Periodicals, Inc.

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

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    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.

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

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    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

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

    Science.gov (United States)

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

    2016-01-01

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

  15. 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.

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

    Science.gov (United States)

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

    2016-01-01

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

  17. Brazil.

    Science.gov (United States)

    1985-09-01

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

  18. Prevalence and factors associated with darunavir resistance mutations in multi-experienced HIV-1-infected patients failing other protease inhibitors in a referral teaching center in Brazil

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    Jose E Vidal

    2011-06-01

    Full Text Available Information about resistance profile of darunavir (DRV is scarce in Brazil. Our objectives were to estimate the prevalence of DRV resistance mutations in patients failing protease inhibitors (PI and to identify factors associated with having more DRV resistance mutations. All HIV-infected patients failing PI-based regimens with genotyping performed between 2007 and 2008 in a referral teaching center in São Paulo, Brazil, were included. DRV-specific resistance mutations listed by December 2008 IAS-USA panel update were considered. Two Poisson regression models were constructed to assess factors related to the presence of more DRV resistance mutations. A total of 171 HIV-infected patients with available genotyping were included. The number of patients with lopinavir, saquinavir, and amprenavir used in previous regimen were 130 (76%, 83 (49%, and 35 (20%, respectively. The prevalence of major DRV resistance mutations was 50V: 5%; 54M: 1%; 76V: 4%; 84V: 15%. For minor mutations, the rates were 11I: 3%; 32I: 7%; 33F: 23%; 47V: 6%; 54L: 6%; 74P: 3%; 89V: 6%. Only 11 (6% of the genotypes had > 3 DRV resistance mutations. In the clinical model, time of HIV infection of > 10 years and use of amprenavir were independently associated with having more DRV resistance mutations. In the genotyping-based model, only total number of PI resistance mutations was associated with our outcome. In conclusion, the prevalence of DRV mutations was low. Time of HIV infection, use of amprenavir and total number of PI resistance mutations were associated with having more DRV mutations.

  19. Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

    NARCIS (Netherlands)

    van der Werf, Christine S.; Sribudiani, Yunia; Verheij, Joke B. G. M.; Carroll, Matthew; O'Loughlin, Edward; Chen, Chien-Huan; Brooks, Alice S.; Liszewski, M. Kathryn; Atkinson, John P.; Hofstra, Robert M. W.

    2013-01-01

    Purpose: Autosomal recessive congenital short bowel syndrome is caused by mutations in CLMP. No mutations were found in the affected males of a family with presumed X-linked congenital short bowel syndrome or in an isolated male patient. Our aim was to identify the disease-causing mutation in these

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

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    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.

  1. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant

    Science.gov (United States)

    Morton, Sarah U.; Prabhu, Sanjay P.; Lidov, Hart G.W.; Shi, Jiahai; Anselm, Irina; Brownstein, Catherine A.; Bainbridge, Matthew N.; Beggs, Alan H.; Vargas, Sara O.; Agrawal, Pankaj B.

    2017-01-01

    Apoptosis-inducing factor mitochondrion-associated 1 (AIFM1), encoded by the gene AIFM1, has roles in electron transport, apoptosis, ferredoxin metabolism, reactive oxygen species generation, and immune system regulation. Here we describe a patient with a novel AIFM1 variant presenting unusually early in life with mitochondrial disease, rapid deterioration, and death. Autopsy, at the age of 4 mo, revealed features of mitochondrial encephalopathy, myopathy, and involvement of peripheral nerves with axonal degeneration. In addition, there was microvesicular steatosis in the liver, thymic noninvolution, follicular bronchiolitis, and pulmonary arterial medial hypertrophy. This report adds to the clinical and pathological spectrum of disease related to AIFM1 mutations and provides insights into the role of AIFM1 in cellular function. PMID:28299359

  2. Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures.

    Science.gov (United States)

    Belachew, Dina; Kazmerski, Traci; Libman, Ingrid; Goldstein, Amy C; Stevens, Susan T; Deward, Stephanie; Vockley, Jerry; Sperling, Mark A; Balest, Arcangela L

    2013-01-01

    Hypophosphatasia (HPP) is a rare metabolic disease with the hallmark finding of deficient serum tissue nonspecific alkaline phosphatase (TNSALP) activity. TNSALP is primarily known for its role in mineralization; hence, HPP is characterized by defective mineralization of bone and/or teeth. TNSALP is also necessary for proper vitamin B6 metabolism and its participation as a cofactor for neurotransmitters in the central nervous system. Defective TNSALP activity in the brain can result in intractable seizures responsive to pyridoxine. The pathophysiology of pyridoxine-responsive seizures (PRS) in severe HPP remains to be clearly defined. We review the case of a 2-month-old Caucasian boy presenting with seizures refractory to conventional antiepileptic medications. Empiric treatment with favorable response to pyridoxine in conjunction with severe metabolic bone disease, extremely low serum alkaline phosphatase, elevated phosphoethanolamine, hypercalcemia, hypercalciuria, and nephrocalcinosis led to a clinical diagnosis of infantile HPP. Sequence analysis revealed compound heterozygosity of the TNSALP gene with a novel mutation in exon 9 and a previously reported mutation in exon 12. This case reminds the physician that severe infantile HPP can present with PRS as its major initial manifestation and should alert clinicians to consider HPP in their differential of PRS. In addition, despite this severe genotype, the clinical diagnosis of our patient was delayed because of minimal phenotypic features initially. This highlights that the phenotype-genotype correlation could be variable even in severe disease. This case also demonstrates that HPP should be classified as PRS and not a form of pyridoxine-dependent epilepsy (PDE) as our patient was able to stop the pyridoxine supplementation without seizure recurrence once enzyme replacement was initiated. With the advent of enzyme replacement therapy, this once fatal disease may have improved morbidity and mortality.

  3. A novel human STAT3 mutation presents with autoimmunity involving Th17 hyperactivation

    NARCIS (Netherlands)

    Wienke, Judith; Janssen, Willemijn; Scholman, Rianne; Spits, Hilde; Gijn, Marielle van; Boes, Marianne; van Montfrans, Joris; Moes, Nicolette; de Roock, Sytze

    2015-01-01

    Mutations in STAT3 have recently been shown to cause autoimmune diseases through increased lymphoproliferation. We describe a novel Pro471Arg STAT3 mutation in a patient with multiple autoimmune diseases, causing hyperactivation of the Th17 pathway. We show that IL-17 production by primary T cells w

  4. Hepatitis B virus genotypes and mutations in the basal core promoter and pre-core/core in chronically infected patients in southern Brazil: a cross-sectional study of HBV genotypes and mutations in chronic carriers

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    Flávia Miryan Martins Almeida de Mello

    2014-12-01

    Full Text Available Introduction In Brazil, little data exist regarding the distribution of genotypes in relation to basal core promoter (BCP and precore/core mutations among chronic hepatitis B virus (HBV carriers from different regions of the country. The aim of this study was to identify HBV genotypes and the frequency of mutations at the BCP and precore/core region among the prevalent genotypes in chronic carriers from southern Brazil. Methods Nested-polymerase chain reaction (nested-PCR products amplified from the S-polymerase gene, BCP and precore/core region from 54 samples were sequenced and analyzed. Results Phylogenetic analysis of the S-polymerase gene sequences showed that 66.7% (36/54 of the patients were infected with genotype D (D1, D2, D3, 25.9% (14/54 with genotype A (A1, A2, 5.6% (3/54 with subgenotype C2, and 2% (1/54 with genotype E. A comparison of virological characteristics showed significant differences between genotypes A, C and D. The comparison between HBeAg status and the G1896A stop codon mutation in patients with genotype D revealed a relationship between HBV G1896A precore mutants and genotype D and hepatitis B e antigen (HBeAg seroconversion. Genotype D had a higher prevalence of the G1896A mutation and the presence of a thymine at position 1858. Genotype A was associated with a higher prevalence of the G1862T mutation and the presence of a cytosine at position 1858. Conclusions HBV genotype D (D3 is predominant in HBV chronic carriers from southern Brazil. The presence of mutations in the BCP and precore/core region was correlated with the HBV genotype and HBeAg negative status.

  5. Hepatic fibrinogen storage disease due to the fibrinogen γ375 Arg → Trp mutation "fibrinogen aguadilla" is present in Arabs

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    Abdulrahman Al-Hussaini

    2014-01-01

    Full Text Available The mutation γ375Arg → Trp (fibrinogen Aguadilla is one of four mutations (Brescia, Aguadilla, Angers, and AI duPont capable of causing hepatic storage of fibrinogen. It has been observed in four children from the Caribbean, Europe, and Japan, suffering from cryptogenic liver disease. We report the first case of hepatic fibrinogen storage disease in Arabs due to a mutation in the fibrinogen γ-chain gene in a 3-year-old Syrian girl presenting with elevated liver enzymes. The finding of an impressive accumulation of fibrinogen in liver cells raised the suspicion of endoplasmic reticulum storage disease. Sequencing of the fibrinogen genes revealed a γ375Arg → Trp mutation (fibrinogen Aguadilla in the child and in her father. In conclusion, when confronted with chronic hepatitis of unknown origin, one should check the plasma fibrinogen level and look carefully for the presence of hepatocellular intracytoplasmic globular inclusions to exclude hepatic fibrinogen storage disease.

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

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    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

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

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    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.

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

    Science.gov (United States)

    Rozen-Gagnon, Kathryn; Stapleford, Kenneth A; Mongelli, Vanesa; Blanc, Hervé; Failloux, Anna-Bella; Saleh, Maria-Carla; Vignuzzi, Marco

    2014-01-01

    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.

  9. Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy

    OpenAIRE

    Fong, Jamie C.; Rojas, Julio C.; Bang, Jee; Legati, Andrea; Rankin, Katherine P.; Forner, Sven; Miller, Zachary A.; Karydas, Anna M.; Coppola, Giovanni; Grouse, Carrie K.; Ralph, Jeffrey; Miller, Bruce L.; Geschwind, Michael D.

    2016-01-01

    Patients with pathogenic truncating mutations in the prion gene (PRNP) usually present with prolonged disease courses with severe neurofibrillary tangle and cerebral amyloidosis pathology, but more atypical phenotypes also occur, including those with dysautonomia and peripheral neuropathy. We describe the neurological, cognitive, neuroimaging, and electrophysiological features of a 31-year-old man presenting with an orbitofrontal syndrome, gastrointestinal symptoms, and peripheral neuropathy ...

  10. Somatic mutations in MYD88 and CXCR4 are determinants of clinical presentation and overall survival in Waldenstrom macroglobulinemia.

    Science.gov (United States)

    Treon, Steven P; Cao, Yang; Xu, Lian; Yang, Guang; Liu, Xia; Hunter, Zachary R

    2014-05-01

    Whole genome sequencing has revealed activating somatic mutations in MYD88 (L265P) and CXCR4 in Waldenström macroglobulinemia (WM). CXCR4 somatic mutations in WM are the first ever reported in human cancer and are similar to nonsense (NS) and frameshift (FS) germline mutations found in warts, hypogammaglobulinemia, infections and myelokathexis (WHIM) syndrome. We genotyped lymphoplasmacytic cells from 175 WM patients and observed significantly higher bone marrow (BM) disease involvement, serum immunoglobulin-M levels, and symptomatic disease requiring therapy, including hyperviscosity syndrome in those patients with MYD88(L265P)CXCR4(WHIM/NS) mutations (P < .03). Patients with MYD88(L265P)CXCR4(WHIM/FS) or MYD88(L265P)CXCR4(WILDTYPE (WT)) had intermediate BM and serum immunoglobulin-M levels; those with MYD88(WT)CXCR4(WT) showed lowest BM disease burden. Fewer patients with MYD88(L265P) and CXCR4(WHIM/FS or NS) vs MYD88(L265P)CXCR4(WT) presented with adenopathy (P < .01), further delineating differences in disease tropism based on CXCR4 status. Neither MYD88 nor CXCR4 mutations correlated with SDF-1a (RS1801157) polymorphisms in 54 patients who were genotyped for these variants. Unexpectedly, risk of death was not impacted by CXCR4 mutation status, but by MYD88(WT) status (hazard ratio 10.54; 95% confidence interval 2.4-46.2, P = .0018). Somatic mutations in MYD88 and CXCR4 are important determinants of clinical presentation and impact overall survival in WM. Targeted therapies directed against MYD88 and/or CXCR4 signaling may provide a personalized treatment approach to WM.

  11. A novel phenotype of a hepatocyte nuclear factor homeobox A (HNF1A) gene mutation, presenting with neonatal cholestasis

    NARCIS (Netherlands)

    de Vries, Aleida G. M.; Bakker-van Waarde, Willie M.; Dassel, Anne C. M.; Losekoot, Monique; Duiker, Evelien W.; Gouw, Annette S. H.; Bodewes, Frank A. J. A.

    2015-01-01

    We report a novel phenotype of a hepatocyte nuclear factor homeobox A (HNF1A) mutation (heterozygote c.130dup, p.Leu44fs) presenting with transient neonatal cholestasis, subsequently followed by persistent elevation of transaminases, maturity-onset diabetes of the young (MODY) type 3 and hepatocellu

  12. 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

    IMPORTANCE: Large studies investigating clinical presentation and treatment in primary conjunctival melanoma (CM) are rare. Clinicopathological characteristics of BRAF-mutated CM have not been studied thoroughly. OBJECTIVES: To determine the associations of clinicopathological tumor features...... and treatment with local recurrence, metastasis, and mortality and to determine the association of BRAF mutations with these features. DESIGN, SETTING, AND PARTICIPANTS: Population-based cohort study at the Eye Pathology Institute, Copenhagen, Denmark. Participants included 139 patients with primary CM...... in 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...

  13. 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

    in 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...... (FHL), the clinical findings included colitis, bleeding disorders, and hypogammaglobulinemia in approximately one-third of the patients. Laboratory analysis revealed impairment of NK-cell degranulation and cytotoxic capacity. Interleukin-2 stimulation of lymphocytes in vitro rescued the NK cell......-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...

  14. 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.

  15. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

    Science.gov (United States)

    Mills, Philippa B.; Camuzeaux, Stephane S.M.; Footitt, Emma J.; Mills, Kevin A.; Gissen, Paul; Fisher, Laura; Das, Krishna B.; Varadkar, Sophia M.; Zuberi, Sameer; McWilliam, Robert; Stödberg, Tommy; Plecko, Barbara; Baumgartner, Matthias R.; Maier, Oliver; Calvert, Sophie; Riney, Kate; Wolf, Nicole I.; Livingston, John H.; Bala, Pronab; Morel, Chantal F.; Feillet, François; Raimondi, Francesco; Del Giudice, Ennio; Chong, W. Kling; Pitt, Matthew

    2014-01-01

    The first described patients with pyridox(am)ine 5’-phosphate oxidase deficiency all had neonatal onset seizures that did not respond to treatment with pyridoxine but responded to treatment with pyridoxal 5’-phosphate. Our data suggest, however, that the clinical spectrum of pyridox(am)ine 5’-phosphate oxidase deficiency is much broader than has been reported in the literature. Sequencing of the PNPO gene was undertaken for a cohort of 82 individuals who had shown a reduction in frequency and severity of seizures in response to pyridoxine or pyridoxal 5’-phosphate. Novel sequence changes were studied using a new cell-free expression system and a mass spectrometry-based assay for pyridoxamine phosphate oxidase. Three groups of patients with PNPO mutations that had reduced enzyme activity were identified: (i) patients with neonatal onset seizures responding to pyridoxal 5’-phosphate (n = 6); (ii) a patient with infantile spasms (onset 5 months) responsive to pyridoxal 5’-phosphate (n = 1); and (iii) patients with seizures starting under 3 months of age responding to pyridoxine (n = 8). Data suggest that certain genotypes (R225H/C and D33V) are more likely to result in seizures that to respond to treatment with pyridoxine. Other mutations seem to be associated with infertility, miscarriage and prematurity. However, the situation is clearly complex with the same combination of mutations being seen in patients who responded and did not respond to pyridoxine. It is possible that pyridoxine responsiveness in PNPO deficiency is affected by prematurity and age at the time of the therapeutic trial. Other additional factors that are likely to influence treatment response and outcome include riboflavin status and how well the foetus has been supplied with vitamin B6 by the mother. For some patients there was a worsening of symptoms on changing from pyridoxine to pyridoxal 5’-phosphate. Many of the mutations in PNPO affected residues involved in binding flavin

  16. Presentation

    Directory of Open Access Journals (Sweden)

    Helmut Renders

    2008-10-01

    Full Text Available We present to our esteemed readers the second edition of our journal for 2008. We have chosen the theme “The life and work of Prof. Dr. Jürgen Moltmann” as its special emphasis. It is our way to pay homage to J. Moltmann in the year the Universidade Metodista de São Paulo awards him an honorary Doctor Honoris Causa degree. Sincethe seventies, Moltmann and Latin America have been in dialog. In his emblematic work “A Theology of Liberation”, Gustavo Gutiérrez, the Catholic, discussed with Moltmann, the Reformed, the relationship between eschatology and history (GUTIÉRREZ, Gustavo.Teologia da Libertação. 5ª edição. Petrópolis, RJ: Vozes, 1985, p. 27, 137-139. A dialog held in the premises of IMS, which nowadays is called UMESP, has produced the little book “Passion for life” (MOLTMANN, Jürgen. Paixão pela vida. São Paulo, SP: ASTE - Associaçãode Seminários Teológicos Evangélicos, 1978.In the following years, the wide theological work of J. Moltmann went all the way from debates to congresses and has conquered the classrooms. Most probably, J. Moltmann is nowadays the most widely read European author in Brazilian theological seminaries. Thisrecognition can only be held in unison and the wide response to our request for articles confirms the huge repercussion that Moltmann’s work has been having up to today in Brazil. The ecumenical theologian J. Moltmann is ecumenically read. We believe that thisway we may be better equipped to answer to anyone who asks us for the reason there is hope in us. We have organized the articles on J. Moltmann’s theology according to the original publication date of the books dealt with in each essay. We also communicate that some articles which were originally requested for this edition of the journal will be published in the journal Estudos de Regilião in May 2009.As it is usual with the journal Caminhando, we have, besides this thematic emphasis, yet other contributions in the areas of

  17. 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

  18. [Influence of genetic mutations on clinical presentation of subretinal neovascularization. Report 2: The impact of HTRA and VEGF genes polymorphism].

    Science.gov (United States)

    Budzinskaia, M V; Pogoda, T V; Strelkova, I D; Chikun, E A; Shchegoleva, I V; Kazarian, É É; Galoian, N S

    2011-01-01

    A detailed analysis of influence of HTRA (serine peptidase) and VEGF (vascular endothelial growth factor) genes mutations is presented. The presence of one gene copy with allele of A- polymorphism rs1120638 of HTRA1 gen, T- polymorphism rs10490924 and de11443in54 of ARMS2 gene increases the risk of CNV in patients with AMD. The feature of clinical presentation in patients with CNV associated with (-625) A mutation of promoter region of HTRA1 gene in two chromosomes was fulminant course of the disease from exudative to scarring processes with fibrous tissue formation not just with sub-, but also intra- and preretinal localization. Genetic screening showed that combination of studied mutations (402H, (-625) A and (-251) A in both gene copies of CFH, HTRA and IL-8) results in the most severe and rapidly progressing form of the disease. Two new mutations were revealed in promoter region of VEGF gene: G > A replacement in position of (-72) nucleotide from transcription start and G > A replacement in 5'-nontranslated region of the 1st gene exon in position of (+31) nucleotide from transcription start.

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

    Directory of Open Access Journals (Sweden)

    Rodrigo Da Silva Dias

    2015-04-01

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

  20. Rhinovirus-C detection in children presenting with acute respiratory infection to hospital in Brazil.

    Science.gov (United States)

    Fawkner-Corbett, David W; Khoo, Siew Kim; Duarte, Carminha M; Bezerra, Patricia G M; Bochkov, Yury A; Gern, James E; Le Souef, Peter N; McNamara, Paul S

    2016-01-01

    Human rhinovirus (RV) is a common cause of acute respiratory infection (ARI) in children. We aimed to characterize the clinical and demographic features associated with different RV species detected in children attending hospital with ARI, from low-income families in North-east Brazil. Nasopharyngeal aspirates were collected from 630 children <5 years with ARI. Clinical diagnosis and disease severity were also recorded. Samples were analyzed by multiplex PCR for 18 viral and atypical bacterial pathogens; RV positive samples underwent partial sequencing to determine species and type. RV was the fourth commonest pathogen accounting for 18.7% of pathogens detected. RV was commonly detected in children with bronchiolitis, pneumonia, and asthma/episodic viral wheeze (EVW). Species and type were assigned in 112 cases (73% RV-A; 27% RV-C; 0% RV-B). Generally, there were no differences in clinical or demographic characteristics between those infected with RV-A and RV-C. However, in children with asthma/EVW, RV-C was detected relatively more frequently than RV-A (23% vs. 5%; P = 0.04). Our findings highlight RV as a potentially important pathogen in this setting. Generally, clinical and demographic features were similar in children in whom RV-A and C species were detected. However, RV-C was more frequently found in children with asthma/EVW than RV-A.

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

    Science.gov (United States)

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

    2015-01-01

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

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

    Science.gov (United States)

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

    2015-11-01

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

  3. Mutation in the S gene a determinant of the hepatitis B virus associated with concomitant HBsAg and anti-HBs in a population in Northeastern Brazil.

    Science.gov (United States)

    de Campos Albuquerque, Ingrid; Sousa, Marinilde Teles; Santos, Max Diego Cruz; Nunes, Jomar Diogo Costa; Moraes, Maria Josélia Diniz; Gomes-Gouvêa, Michele Soares; Pinho, João Renato Rebelo; Carrilho, Flair José; Fonseca, Lena Maria Barros; de Sousa Paiva Ferreira, Adalgisa

    2017-03-01

    Mutations in the a determinant of S gene may develop co-existence of hepatitis B surface antigen (HBsAg) and antibodies to HBsAg (anti-HBs) in the serum of infected hepatitis B virus (HBV) individuals. Mutations in this region may change the antigenicity of HBsAg, which in turn, lead to escape of neutralizing action of anti-HBs antibodies. This study identified individuals with concomitant HBsAg and anti-HBs serological markers in individuals of Maranhão, Northeastern Brazil. Samples from a population-based study were evaluated for HBsAg, anti-HBs, and anti-HBc, and those that tested positive for simultaneous HBsAg and anti-HBs were submitted to HBV DNA quantification and S gene characterization by Sanger sequencing. Mutations were investigated in the a determinant located in major hydrophilic region (MHR) of the S gene. Among 3,984 samples analyzed, 92 (2.3%) were positive for HBsAg and three had the atypical HBsAg and anti-HBs-positive profile (3.26%). The frequency of HBsAg and anti-HBs co-existence was similar to previous studies. Only one individual harbored mutation in the S gene a determinant associated with this profile. Little is known about this phenomenon; however, studies as ours may contribute for future enlightenment of this important issue. J. Med. Virol. 89:458-462, 2017. © 2016 Wiley Periodicals, Inc.

  4. 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

  5. Mite (Arthropoda, Acari associates of palms (Arecaceae in Brazil I: present status and new records

    Directory of Open Access Journals (Sweden)

    Dalva L. Q. Santana

    1998-12-01

    Full Text Available This paper presents 72 new records and 10 records from literature on the distribuition of nine species of phytophagous mites and nine species of predatory mites from 13 species of palms in 13 Brazilian States.

  6. 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.

  7. Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.

    Science.gov (United States)

    Di Fabio, Roberto; Marcotulli, Christian; Tessa, Alessandra; Leonardi, Luca; Storti, Eugenia; Pierelli, Francesco; Santorelli, Filippo M; Casali, Carlo

    2014-04-01

    Pathogenic mutations in CYP7B1 account for SPG5, an autosomal recessive hereditary spastic paraplegia characterized by a complex phenotype including visual problems and cerebellar dysfunction. Sensory ataxia is not usually regarded as a typical clinical feature of SPG5. The purpose of this study was to describe six patients showing features of sensory ataxia as the prominent and/or initial symptoms of SPG5. Six patients from three distinct pedigrees (three women, three men; age 49.5 ± 18.2 years), all presenting gait unsteadiness and frequent falls since childhood, underwent clinical and molecular investigations. All showed marked sensory ataxic gait with positive Romberg's sign, as well as severely impaired position and vibration sense. Comparatively minor signs of pyramidal involvement were also detected. In four of the patients, brain MRI showed white matter hyperintensities on T2-weighted images. An already reported homozygous c.889A>G (p.T297A) mutation in SPG5/CYP7B1 was found in five patients from two families, whereas the remaining case harbored the novel c.250_251delC/p.L84Ffs*6 and c.266A>C/p.Y89S variants. Marked and enduring sensory ataxia can be a pivotal sign in SPG5, and expands the phenotypic spectrum associated with mutations in CYP7B1.

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

    Science.gov (United States)

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

    2015-04-01

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

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

    Directory of Open Access Journals (Sweden)

    Marcelo N. Burattini

    Full Text Available 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.

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

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    Vahid Bemanian

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

  11. Prevalence of gyrA Mutations in Nalidixic Acid-Resistant Strains of Salmonella Enteritidis Isolated from Humans, Food, Chickens, and the Farm Environment in Brazil.

    Science.gov (United States)

    Campioni, Fábio; Souza, Roberto Antonio; Martins, Vinicius Vicente; Stehling, Eliana Guedes; Bergamini, Alzira Maria Morato; Falcão, Juliana Pfrimer

    2016-08-25

    Salmonella Enteritidis strains that are resistant to nalidixic acid and exhibit reduced susceptibility to fluoroquinolones have been increasing worldwide. In Brazil, few studies have been conducted to elucidate the quinolone resistance mechanisms of S. Enteritidis strains. This study analyzed the profile of gyrA, gyrB, parC, and parE mutations and plasmid-mediated quinolone resistance (PMQR) mechanisms in S. Enteritidis Nal(R) strains isolated in Brazil. Moreover, the minimum inhibitory concentrations (MICs) of ciprofloxacin were evaluated in 84 Nal(R) strains and compared with 20 Nal(S) strains. The mutation profiles of the gyrA gene were accessed by high-resolution melting analysis and gyrB, parC, and parE by quinolone resistance-determining region sequencing. The MICs of ciprofloxacin were accessed with Etest(®). The strains were divided into five gyrA melting profiles. The Nal(R) strains exhibited the following amino acid substitutions: Ser97→Pro, Ser83→Phe, Asp87→Asn, or Asp87→Tyr. The average MICs of ciprofloxacin was 0.006 μg/ml in the Nal(S) and 0.09 μg/ml in the Nal(R) strains. No points of mutation were observed in the genes gyrB, parC, and parE. The qnrB gene was found in two strains. In conclusion, the reduced susceptibility to ciprofloxacin observed in Nal(R) strains may cause treatment failures once this drug is commonly used to treat Salmonella infections. Moreover, this reduced susceptibility in these Brazilian strains was provided by target alteration of gene gyrA and not by mobile elements, such as resistance plasmids.

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1999-11-01

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

  14. Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.

    NARCIS (Netherlands)

    Zankl, A.; Elakis, G.; Susman, R.D.; Inglis, G.; Gardener, G.; Buckley, M.F.; Roscioli, T.

    2008-01-01

    We present prenatal and postnatal features of a patient with severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Mutation analysis confirmed the clinical diagnosis by detecting the FGFR3 Lys650Met mutation. This case, one of only six with molecular analysis reported in

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

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    Pedro Guatimosim Vidigal

    2014-04-01

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

  16. A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.

    Science.gov (United States)

    Tiranti, V; D'Agruma, L; Pareyson, D; Mora, M; Carrara, F; Zelante, L; Gasparini, P; Zeviani, M

    1998-01-01

    We describe a patient who presented with progressive ataxia, seizures, mental deterioration, mild myopathy, and hearing loss. A novel heteroplasmic G-to-A transition was found, affecting the acceptor stem of the mitochondrial (mt) tRNA(Val) gene. Mutant mtDNA was 67% of total mtDNA in the muscle of the proband and was also present at low levels in the muscle of his healthy mother. It was absent in all of the numerous control DNA samples that were tested. Analysis of single muscle fibers revealed a significantly greater level of mutant mtDNA in cytochrome c oxidase-negative fibers. Mutations of mtDNA may be responsible of neurological syndromes that, like the case reported here, are clinically puzzling, and lack typical "mitochondrial" clues, such as elevated levels of blood lactate, overt defects of the respiratory complexes, and clinically documented maternal inheritance.

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

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    Atchayaram Nalini

    2013-01-01

    Full Text Available 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.

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

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    Daniela Souza Ferreira

    2010-09-01

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

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

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    Todd P. Williams

    2016-03-01

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

  20. N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra

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    Eiman H. Al Kaabi

    2016-09-01

    Full Text Available The urea cycle is the main pathway for the disposal of excess nitrogen. Carbamoylphosphate synthetase 1 (CPS1, the first and rate-limiting enzyme of urea cycle, is activated by N-acetylglutamate (NAG, and thus N-acetylglutamate synthase (NAGS is an essential part of the urea cycle. Although NAGS deficiency is the rarest urea cycle disorder, it is the only one that can be specifically and effectively treated by a drug, N-carbamylglutamate, a stable structural analogous of NAG that activates CPS1. Here we report an infant with NAGS deficiency who presented with neonatal hyperammonemia. She was found to have a novel homozygous splice-site mutation, c.1097-2A>T, in the NAGS gene. We describe the clinical course of this infant, who had rapid response to N-carbamylglutamate treatment. In addition, we reviewed the clinical and molecular spectra of previously reported individuals with NAGS deficiency, which presents in most cases with neonatal hyperammonemia, and in some cases the presentation is later, with a broad spectrum of ages and manifestations. With this broad later-onset phenotypic spectrum, maintaining a high index of suspicion is needed for the early diagnosis of this treatable disease.

  1. N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.

    Science.gov (United States)

    Al Kaabi, Eiman H; El-Hattab, Ayman W

    2016-09-01

    The urea cycle is the main pathway for the disposal of excess nitrogen. Carbamoylphosphate synthetase 1 (CPS1), the first and rate-limiting enzyme of urea cycle, is activated by N-acetylglutamate (NAG), and thus N-acetylglutamate synthase (NAGS) is an essential part of the urea cycle. Although NAGS deficiency is the rarest urea cycle disorder, it is the only one that can be specifically and effectively treated by a drug, N-carbamylglutamate, a stable structural analogous of NAG that activates CPS1. Here we report an infant with NAGS deficiency who presented with neonatal hyperammonemia. She was found to have a novel homozygous splice-site mutation, c.1097-2A>T, in the NAGS gene. We describe the clinical course of this infant, who had rapid response to N-carbamylglutamate treatment. In addition, we reviewed the clinical and molecular spectra of previously reported individuals with NAGS deficiency, which presents in most cases with neonatal hyperammonemia, and in some cases the presentation is later, with a broad spectrum of ages and manifestations. With this broad later-onset phenotypic spectrum, maintaining a high index of suspicion is needed for the early diagnosis of this treatable disease.

  2. Presentation

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    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.

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

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    J. S. Inglez de Sousa

    1959-01-01

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

  4. Presentation

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    Eduardo Vicente

    2013-06-01

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

  5. Cardiac Paraganglioma Arising From the Right Atrioventricular Groove in a Paraganglioma-Pheochromocytoma Family Syndrome With Evidence of SDHB Gene Mutation: An Unusual Presentation.

    Science.gov (United States)

    Del Forno, Benedetto; Zingaro, Carlo; Di Palma, Enza; Capestro, Filippo; Rescigno, Giuseppe; Torracca, Lucia

    2016-09-01

    Primary cardiac paragangliomas are extremely rare. Recently this neoplasm has been associated with a familiar syndrome as a result of mutation of genes that encode proteins in the mitochondrial complex II. We report a case of a 46-year-old woman having cases of vertebral paraganglioma in her family showing an unusual anatomic and clinical presentation of cardiac paraganglioma and expressing a genetic mutation never associated before with cardiac localization of this neoplasm.

  6. Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature

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    Kirk Edwin P

    2010-11-01

    Full Text Available Abstract Introduction Ornithine transcarbamylase deficiency is the most common hereditary urea cycle defect. It is inherited in an X-linked manner and classically presents in neonates with encephalopathy and hyperammonemia in males. Females and males with hypomorphic mutations present later, sometimes in adulthood, with episodes that are frequently fatal. Case presentation A 13-year-old Caucasian girl presented with progressive encephalopathy, hyperammonemic coma and lactic acidosis. She had a history of intermittent regular episodes of nausea and vomiting from seven years of age, previously diagnosed as abdominal migraines. At presentation she was hyperammonemic (ammonia 477 μmol/L with no other biochemical indicators of hepatic dysfunction or damage and had grossly elevated urinary orotate (orotate/creatinine ratio 1.866 μmol/mmol creatinine, reference range A mutation was identified in the ornithine transcarbamylase gene (OTC in our patient confirming the first symptomatic female shown heterozygous for the R40H mutation. A review of the literature and correspondence with authors of patients with the R40H mutation identified one other symptomatic female patient who died of hyperammonemic coma in her late teens. Conclusions This report expands the clinical spectrum of presentation of ornithine transcarbamylase deficiency to female heterozygotes for the hypomorphic R40H OTC mutation. Although this mutation is usually associated with a mild phenotype, females with this mutation can present with acute decompensation, which can be fatal. Ornithine transcarbamylase deficiency should be considered in the differential diagnosis of unexplained acute confusion, even without a suggestive family history.

  7. An ultra-deep sequencing strategy to detect sub-clonal TP53 mutations in presentation chronic lymphocytic leukaemia cases using multiple polymerases.

    Science.gov (United States)

    Worrillow, L; Baskaran, P; Care, M A; Varghese, A; Munir, T; Evans, P A; O'Connor, S J; Rawstron, A; Hazelwood, L; Tooze, R M; Hillmen, P; Newton, D J

    2016-10-06

    Chronic lymphocytic leukaemia (CLL) is the most common clonal B-cell disorder characterized by clonal diversity, a relapsing and remitting course, and in its aggressive forms remains largely incurable. Current front-line regimes include agents such as fludarabine, which act primarily via the DNA damage response pathway. Key to this is the transcription factor p53. Mutations in the TP53 gene, altering p53 functionality, are associated with genetic instability, and are present in aggressive CLL. Furthermore, the emergence of clonal TP53 mutations in relapsed CLL, refractory to DNA-damaging therapy, suggests that accurate detection of sub-clonal TP53 mutations prior to and during treatment may be indicative of early relapse. In this study, we describe a novel deep sequencing workflow using multiple polymerases to generate sequencing libraries (MuPol-Seq), facilitating accurate detection of TP53 mutations at a frequency as low as 0.3%, in presentation CLL cases tested. As these mutations were mostly clustered within the regions of TP53 encoding DNA-binding domains, essential for DNA contact and structural architecture, they are likely to be of prognostic relevance in disease progression. The workflow described here has the potential to be implemented routinely to identify rare mutations across a range of diseases.

  8. 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

  9. Different presentations in patients with tumor necrosis factor receptor-associated periodic syndrome mutations: report of two cases.

    Science.gov (United States)

    Celebi-Tayfur, Aslı; Bilginer, Yelda; Finetti, Martina; Gattorno, Marco; Ozen, Seza

    2013-01-01

    Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory disorder caused by mutations in the TNFRSF1A gene encoding the 55-kDa receptor for tumor necrosis factor (TNF)-α. It is characterized by recurrent prolonged episodes of fever accompanied by abdominal pain, pleuritis, migratory skin rashes, fasciitis, headache, conjunctivitis, and periorbital edema. We report two children, one with a severe mutation in the TNFRSF1A gene causing the typical phenotype. The second patient had a homozygous R92Q-type mutation and displayed a periodic fever with aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome-like phenotype. In the eastern Mediterranean region, TRAPS is probably underdiagnosed because of the overwhelming frequency of familial Mediterranean fever (FMF). However, TRAPS should be sought for in patients with atypical symptoms for FMF.

  10. A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation

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    Marco Ceccanti

    2016-11-01

    Full Text Available Tangier disease is an autosomal recessive disorder characterized by severe reduction in HDL-cholesterol and peripheral lipid storage. We describe a family with c.5094C>A p.Tyr16980* mutation in the ABCA1 gene, clinically characterized by syringomyelic-like anesthesia, demyelinating multineuropathy and reduction in intraepidermal small fibers innervation. In the proband patient, cardiac involvement determined a myocardial infarction; lipid storage was demonstrated in gut, cornea and aortic wall. The reported ABCA1 mutation has never been described before in a Tangier family.

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

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    D. Bahena-Bahena

    2014-01-01

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

  12. Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692)

    NARCIS (Netherlands)

    F. Forey; H.L.J. Tanghe (Hervé); M.F. Niermeijer (Martinus); C.M. van Duijn (Cock); J.C. van Swieten (John); F. van Harskamp (Frans); I. de Koning (Inge); M. Cruts (Marc); C. de Jonghe (Chris); S. Kumar-Singh (Samir); A. Tibben (Arend); C. van Broeckhoven (Christine); A. Hofman (Albert)

    2000-01-01

    textabstractSeveral mutations in the amyloid precursor protein (APP) gene may lead to either Alzheimer's disease or cerebral haemorrhage due to congophilic amyloid angiopathy (CAA). A single family is known in which both types of pathology are expressed because of a missense mutati

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

    Directory of Open Access Journals (Sweden)

    Yamane H

    2013-03-01

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

  14. Frequency of the Val1016Ile mutation on the kdr gene in Aedes aegypti (Diptera: Culicidae) in south Brazil.

    Science.gov (United States)

    Collet, M L; Frizzo, C; Orlandin, E; Rona, L D P; Nascimento, J C; Montano, M A E; Müller, G A; Wagner, G

    2016-11-21

    Recently, the number of Aedes aegypti foci has increased in west of Santa Catarina, south Brazil, which has increased concern regarding mosquito-borne disease outbreaks such as dengue fever, Zika virus, and chikungunya. Therefore, it is important to monitor genetic resistance to insecticides through "knockdown resistance". Homozygosity (Ile/Ile) at position 1016 in the coding region of a voltage-dependent sodium channel gene (Nav) may induce resistance to pyrethroid insecticides. We evaluated the frequency of these alleles in A. aegypti in west Santa Catarina. In total, 349 specimens were obtained from the microregions of Joaçaba (31), Concórdia (35), Chapecó (154), and São Miguel do Oeste (129). We found that 109 individuals (31.0%) were homozygous for Val/Val, 102 (29.0%) were heterozygous for Val/Ile, and 138 (40.0%) were homozygous for Ile/Ile. The allele frequencies were similar for Val (0.455) and Ile (0.545). Joaçaba and Concórdia had the highest mutant allele frequencies (0.825 and 0.685, respectively). Therefore, these populations should be monitored for increases in pyrethroid resistance. The São Miguel do Oeste and Chapecó populations had similar frequencies of Val and Ile and were not in Hardy-Weinberg equilibrium, suggesting that a selection pressure or other evolutionary force has occurred. In conclusion, the observed frequency of Ile/Ile homozygous individuals in the region studied requires attention, because the implementation of controls using pyrethroid may increase the frequency of the mutant allele through the selection of resistant populations.

  15. Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene.

    Science.gov (United States)

    Balogh, Katalin; Patócs, Attila; Majnik, Judit; Varga, Fatima; Illyés, György; Hunyady, László; Rácz, Károly

    2004-01-01

    We report an unusual presentation of multiple endocrine neoplasia type 1 (MEN 1) in a young woman who was subsequently proven to have a novel mutation of the MEN1 gene. The young patient, aged 25 years, was investigated for abdominal discomfort and left upper abdominal pain. Her family history was unremarkable, except an unknown disorder of her father causing early death. Abdominal ultrasonography (USG) and computed tomography revealed a giant pancreatic tumor measuring 10 cm in diameter. The diagnosis of a clinically nonfunctioning pancreatic neuroendocrine tumor was established by clinical and other studies, including USG-guided aspiration biopsy and octreotide scintigraphy, and the patient underwent a distal pancreatectomy. Histology proved a well-differentiated multinodular neuroendocrine tumor of the pancreas. During surgery, a subcutaneous lipoma was also removed from the abdominal wall. Two years later, the patient developed primary hyperparathyroidism, and two enlarged parathyroid glands were surgically removed. Magnetic resonance imaging of the pituitary gland was normal. Screening for MEN1 gene mutation by temperature gradient gel electrophoresis revealed heterozygosities in exons 3, 8, and 9, while direct sequencing indicated a novel germline mutation (C354X) resulting in a stop codon in exon 8 and polymorphisms in exon 3 (R171Q) and exon 9 (D418D and L432L). Genetic screening revealed no mutation in living family members. Our unusual case suggests that a multinodular pancreatic neuroendocrine tumor in a young patient may justify screening for MEN 1 syndrome, even in the absence of other endocrinopathy or family history.

  16. A diagnostic dilemma following risk-reducing surgery for BRCA1 mutation – a case report of primary papillary serous carcinoma presenting as sigmoid cancer

    Directory of Open Access Journals (Sweden)

    Nash Guy F

    2007-09-01

    Full Text Available Abstract Background Women that carry germ-line mutations for BRCA1 or BRCA2 genes are at an increased risk of developing breast, ovarian and peritoneal cancer. Primary peritoneal carcinoma is a rare tumour histologically identical to papillary serous ovarian carcinoma. Risk-reducing surgery in the form of mastectomy and oophorectomy in premenopausal women has been recommended to prevent breast and ovarian cancer occurrence and decrease the risk of developing primary peritoneal cancer. Case presentation We present a case report of a woman with a strong family history of breast cancer who underwent risk-reducing surgery in the form of bilateral salpingo-oophorectomy following a mastectomy for a right-sided breast tumour. Following the finding of a BRCA1 mutation, a prophylactic left-sided mastectomy was performed. After remaining well for twenty-seven years, she presented with rectal bleeding and altered bowel habit, and was found to have a secondary cancer of the sigmoid colon. She was finally diagnosed with primary papillary serous carcinoma of the peritoneum (PSCP. Conclusion PSCP can present many years after risk-reducing surgery and be difficult to detect. Surveillance remains the best course of management for patients with known BRCA mutations.

  17. The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.

    Science.gov (United States)

    Ellis, N A; Ciocci, S; Proytcheva, M; Lennon, D; Groden, J; German, J

    1998-12-01

    Bloom syndrome (BS) is more frequent in the Ashkenazic Jewish population than in any other. There the predominant mutation, referred to as "blmAsh," is a 6-bp deletion and 7-bp insertion at nucleotide position 2281 in the BLM cDNA. Using a convenient PCR assay, we have identified blmAsh on 58 of 60 chromosomes transmitted by Ashkenazic parents to persons with BS. In contrast, in 91 unrelated non-Ashkenazic persons with BS whom we examined, blmAsh was identified only in 5, these coming from Spanish-speaking Christian families from the southwestern United States, Mexico, or El Salvador. These data, along with haplotype analyses, show that blmAsh was independently established through a founder effect in Ashkenazic Jews and in immigrants to formerly Spanish colonies. This striking observation underscores the complexity of Jewish history and demonstrates the importance of migration and genetic drift in the formation of human populations.

  18. 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

  19. Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation.

    Science.gov (United States)

    Wasserman, Halley; Hufnagel, Robert B; Miraldi Utz, Virginia; Zhang, Kejian; Valencia, C Alexander; Leslie, Nancy D; Crimmins, Nancy A

    2016-11-01

    The prevalence of diabetes-related cataracts during childhood is less than 1%. When cataracts occur, it is often in adolescent females with prolonged symptoms and significant hyperglycemia. Cataracts are not a classic feature of monogenic diabetes. We report a case of a 6-yr-old, previously healthy Caucasian male, who presented with bilateral acquired cataracts and was subsequently diagnosed with new onset diabetes. Additional symptoms at presentation included a several year history of polyuria and polydipsia, mild hepatomegaly, and short stature. Pertinent negatives include acanthosis nigricans, lipoatrophy, deafness, muscle weakness, or neuropathy. HbA1c was significantly elevated at diagnosis (>14%, 129.5 mmol/mol) without evidence of ketosis. Autoantibody testing was negative. Features of Mauriac syndrome (short stature, hepatomegaly) as well as acquired cataracts indicated long-standing hyperglycemia with sufficient insulin production to prevent ketone production and development of diabetic ketoacidosis. Whole exome sequencing was conducted and a de novo heterozygous mutation in the INS gene (c.94G>A; p.Gly32Ser) was identified. INS gene mutations are common causes of permanent neonatal diabetes but rare causes of antibody-negative diabetes in children. Importantly, INS gene mutations have not been previously associated with acquired cataracts. Knowledge of a monogenic cause of diabetes allows clinicians to tailor counseling and screening of diabetes-related comorbidities. In summary, this case highlights the need to consider testing for monogenic diabetes, specifically INS gene mutations, in pediatric patients with antibody-negative diabetes, especially if complications of prolonged hyperglycemia are present at diagnosis.

  20. 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)

  1. [Influence of genetic mutations on clinical presentation of subretinal neovascularization. Report 1: The impact of CFH and IL-8 genes polymorphism].

    Science.gov (United States)

    Budzinskaia, M V; Pogoda, T V; Generozov, É V; Chikun, E A; Shchegoleva, I V; Kazarian, É É; Galoian, N S

    2011-01-01

    Genetic analysis was performed in patients with subretinal neovascularization (CNV). The results showed significant association of CFH (compliment factor H) gene polymorphism with increase (rs1061170, rs514943 and rs380390) or decrease (rs529825, rs7524776, rs1831281, rs2274700, rs1576340, rs12144939, rs7540032) of CNV development risk. The incidence of IL-8 gene mutation was significantly (p = 0.008) higher in patients after chorioretinitis. Apparently -125 > A polymorphism in patients with chorioretinitis increases risk of CNV development, thus promoting raise of proangiogenic factors concentration in eyes with inflammatory background. The clinical presentation in patients with AMD and myopic disease associated with (-125) A mutation of promoter region of IL-8 gene was similar to that of patients with chorioretinitis. The features are the following: focal pattern, no drusen and RPE detachment, predominantly classic form of CNV (without occult pattern), formation of well-organized newly developed vessels.

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

    Science.gov (United States)

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

    2015-04-01

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

  3. Mortality problems in Brazil and in Germany: past-present-future. Learning from each other? Problemas de mortalidade no Brasil e na Alemanha: passado-presente-futuro. Aprendendo um do outro?

    Directory of Open Access Journals (Sweden)

    Arthur E. Imhof

    1985-06-01

    Full Text Available This article was written by a Swiss-German historical demographer after having visited different Brazilian Universities in 1984 as a guest-professor. It aims at promoting a real dialog between developed and developing countries, commencing the discussion with the question: Can we learn from each other? An affirmative answer is given, but not in the superficial manner in which the discussion partners simply want to give each other some "good advice" or in which the one declares his country's own development to be the solely valid standard. Three points are emphasized: 1. Using infant mortality in S. Paulo from 1908 to 1983 as an example, it is shown that Brazil has at its disposal excellent, highly varied research literature that is unjustifiably unknown to us (in Europe for the most part. Brazil by no means needs our tutoring lessons as regards the causal relationships; rather, we could learn two things from Brazil about this. For one, it becomes clear that our almost exclusively medical-biological view is inappropriate for passing a judgment on the present-day problems in Brazil and that any conclusions so derived are thus only transferable to a limited extent. For another, we need to reinterpret the history of infant mortality in our own countries up to the past few decades in a much more encompassing "Brazilian" sense. 2. A fruitful dialog can only take place if both partners frankly present their problems. For this reason, the article refers with much emprasis to our present problems in dealing with death and dying - problems arising near the end of the demographic and epidemiologic transitions: the superanuation of the population, chronic-incurable illnesses as the main causes of death, the manifold dependencies of more and more elderly and really old people at the end of a long life. Brazil seems to be catching up to us in this and will be confronted with these problems sooner or later. A far-sighted discussion already at this time seems

  4. Peripartum cardiomyopathy presenting with syncope due to Torsades de pointes: a case of long QT syndrome with a novel KCNH2 mutation.

    Science.gov (United States)

    Nishimoto, Orie; Matsuda, Morihiro; Nakamoto, Kei; Nishiyama, Hirohiko; Kuraoka, Kazuya; Taniyama, Kiyomi; Tamura, Ritsu; Shimizu, Wataru; Kawamoto, Toshiharu

    2012-01-01

    Peripartum cardiomyopathy (PPCM) is a cardiomyopathy of unknown cause that occurs in the peripartum period. We report a case of PPCM presenting with syncope 1 month after an uncomplicated delivery. Electrocardiography showed Torsades de pointes (TdP) and QT interval prolongation. Echocardiography showed left ventricular systolic dysfunction and endomyocardial biopsy showed myocyte degeneration and fibrosis. Administration of magnesium sulfate and temporary pacing eliminated recurrent TdP. Genetic analyses revealed that recurrent TdP occurred via electrolyte disturbance and cardiac failure due to PPCM on the basis of a novel mutation in KCNH2, a gene responsible for inherited type 2 long QT syndrome.

  5. 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

    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....... Patients with FHL5 showed several atypical features, including sensorineural hearing deficit, abnormal bleeding, and, most frequently, severe diarrhea that was only present in early-onset disease. In conclusion, we report the largest cohort of patients with FHL5 so far, describe an extended disease...

  6. Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.

    Science.gov (United States)

    Tein, Ingrid; Elpeleg, Orly; Ben-Zeev, Bruria; Korman, Stanley H; Lossos, Alexander; Lev, Dorit; Lerman-Sagie, Tally; Leshinsky-Silver, Esther; Vockley, Jerry; Berry, Gerard T; Lamhonwah, Anne-Marie; Matern, Dietrich; Roe, Charles R; Gregersen, Niels

    2008-02-01

    We report 10 children (7 male, 3 female), 3 homozygous for c.319C>T mutation and 7 heterozygous for c.319C>T on one allele and c.625G>A variant on the other in the short-chain acyl-CoA dehydrogenase (SCAD) gene (ACADS). All were of Ashkenazi Jewish origin in which group we found a c.319C>T heterozygote frequency of 1:15 suggesting the presence of a founder mutation or selective advantage. Phenotype was variable with onset from birth to early childhood. Features included hypotonia (8/10), developmental delay (8/10), myopathy (4/10) with multicore changes in two and lipid storage in one, facial weakness (3/10), lethargy (5/10), feeding difficulties (4/10) and congenital abnormalities (3/7). One female with multiminicore myopathy had progressive external ophthalmoplegia, ptosis and cardiomyopathy with pneumonia and respiratory failure. Two brothers presented with psychosis, pyramidal signs, and multifocal white matter abnormalities on MRI brain suggesting additional genetic factors. Two other infants also had white matter changes. Elevated butyrylcarnitine (4/8), ethylmalonic aciduria (9/9), methylsuccinic aciduria (6/7), decreased butyrate oxidation in lymphoblasts (2/4) and decreased SCAD activity in fibroblasts or muscle (3/3) were shown. Expression studies of c.319C>T in mouse liver mitochondria showed it to be inactivating. c.625G>A is a common variant in ACADS that may confer disease susceptibility. Five healthy parents were heterozygous for c.319C>T and c.625G>A, suggesting reduced penetrance or broad clinical spectrum. We conclude that the c.319C>T mutation can lead to wide clinical and biochemical phenotypic variability, suggesting a complex multifactorial/polygenic condition. This should be screened for in individuals with multicore myopathy, particularly among the Ashkenazim.

  7. Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review.

    Science.gov (United States)

    Patiroglu, Turkan; Akar, H Haluk; Gilmour, Kimberly; Ozdemir, M Akif; Bibi, Shahnaz; Henriquez, Frances; Burns, Siobhan O; Unal, Ekrem

    2014-10-01

    Severe combined immunodeficiency (SCID) is a heterogeneous group of inherited defects involving the development of T- and/or B-lymphocytes. We report a female with atypical severe combined immunodeficiency caused by a novel homozygous mutation at cDNA position 2290 (c.2290C > T) in exon 2 of the RAG1 gene. The patient presented with bronchopneumonia, pyoderma gangrenosum (PG), pancytopenia and splenomegaly. She presented to us with pancytopenia and splenomegaly at the age of 11. Her condition was complicated by PG on left lower ankle at the age of 12. She experienced bronchopneumonia at the age of 15. She was diagnosed with RAG1 deficiency at the age of 16. Her immunological presentation included leucopenia and diminished number of B cells.

  8. Two Complementary Approaches for the Controlled Release of Biomolecules Immobilized via Coiled-Coil Interactions: Peptide Core Mutations and Multivalent Presentation.

    Science.gov (United States)

    Murschel, Frederic; Fortier, Charles; Jolicoeur, Mario; Hodges, Robert S; De Crescenzo, Gregory

    2017-03-13

    We have developed a heterodimeric coiled-coil system based on two complementary peptides, namely (EVSALEK)5 and (KVSALKE)5, or E and K, for the attachment of E-tagged biomolecules onto K-decorated biomaterials. We here explore two approaches to control the strength and the stability of the E/K coiled-coil complex, and thus its potential for the controlled release of biomolecules. Those are Leucine-to-Alanine mutations in the K peptide (4 peptides with 0 to 3 mutations) and multivalent presentation of the E peptide (6 bio-objects from monomeric to dimeric and n-meric). Using E-tagged growth factors and nanoparticles as models, SPR-based assays performed under continuous flow indicated that the release rate was strongly affected by both approaches independently, and that the strength of the capture could be finely tuned over a wide range (apparent dissociation constant from 0.12 pM to 270 nM). Further release assays carried out in well-plates showed that the multivalent presentation only had a significant influence in this setup since the wells were not rinsed under continuous flow.

  9. 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.

  10. 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.

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

    Directory of Open Access Journals (Sweden)

    Crisle Vignol Dillenburg

    2012-01-01

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

  12. 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.

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

    Science.gov (United States)

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

    2012-01-01

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

  14. L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Rozen, R.; Ferreira-Rajabi, L.; Robb, L. [McGill Univ., Montreal, Quebec (Canada)] [and others

    1995-07-03

    Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Over 400 mutations have been reported at this locus. Although severe forms of cystic fibrosis are usually associated with pancreatic insufficiency, pulmonary dysfunction, and elevated sweat chloride, there is a wide range of phenotypes, including congenital absence of the vas deferens, observed with some of the milder mutations. The L206W mutation, which was first identified in patients from South France, is relatively frequent in French Canadians from Quebec. In this report, we document the atypical form of cystic fibrosis associated with this mutation in a cohort of 7 French Canadian probands. 20 refs.

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

    Directory of Open Access Journals (Sweden)

    Amanda Nogueira Brum Fontes

    2012-12-01

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

  16. 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.

    Science.gov (United States)

    Fontes, Amanda Nogueira Brum; Gomes, Harrison Magdinier; Araujo, Marcelo Ivens de; Albuquerque, Edson Cláudio Araripe de; Baptista, Ida Maria Foschiani Dias; Moura, Maria Manuela da Fonseca; Rezende, Denise Silva; Pessolani, Maria Cristina Vidal; Lara, Flávio Alves; Pontes, Maria Araci de Andrade; Gonçalves, Heitor de Sá; Lucena-Silva, Norma; Sarno, Euzenir Nunes; Vissa, Varalakshmi D; Brennan, Patrick J; Suffys, Philip Noel

    2012-12-01

    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.

  17. Detection of fluoroquinolone resistance by mutation in gyrA gene of Campylobacter spp. isolates from broiler and laying (Gallus gallus domesticus hens,from Rio de Janeiro State, Brazil

    Directory of Open Access Journals (Sweden)

    Beatriz da Silva Frasao

    2015-11-01

    Full Text Available Poultry are considered to be the main reservoir of Campylobacter spp. bacteria, an important pathogen for humans. Many studies have reported a rapid selection of fluoroquinolone-resistant strains following the widespread use of these antimicrobials in poultry production and human medicine. The main mechanism of fluoroquinolone resistance in Campylobacter is a mutation in the Quinolone Resistance Determinant Region (QRDR in the gyrA gene, which codes for the subunit of the enzyme DNA gyrase, the target for fluoroquinolone. The aim of this study was to investigate the mutation in QRDR in the gyrA gene of Campylobacter strains previously isolated from broiler carcasses and feces of laying hens. Thirty-eight strains of C. jejuni and 19 C. coli strains (n=57, previously characterized as resistant to ciprofloxacin and enrofloxacin by the disk diffusion method and minimum inhibitory concentration (MIC, were selected. For detection of the mutation, a fragment of 454pb QRDR in the gyrA gene was used for direct sequencing. All strains presented the QRDR mutation in the gyrA gene at codon 86 (Thr-86-Ile, which confers resistance to fluoroquinolones. Other known silent mutations were observed. This genotypic characterization of fluoroquinolone resistance in Campylobacter strains has confirmed the prior phenotypic detection of the resistance. The Thr-86-Ile mutation was observed in all samples confirming that this is the predominant mutation in enrofloxacin and ciprofloxacin resistant strains of C. jejuni and C. coli.

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

    Institute of Scientific and Technical Information of China (English)

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

    2006-01-01

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

  19. X-linked severe combined immunodeficiency due to a novel mutation complicated with hemophagocytic lymphohistiocytosis and presented with invagination: A case report

    Science.gov (United States)

    Patiroglu, Turkan; van den Burg, Mirjam; Unal, Ekrem; Akyildiz, Basak N.; Tekerek, Nazan U.; Yilmaz, Ebru

    2014-01-01

    Severe combined immunodeficiency (SCID) is an inherited disease with profoundly defective T cells, B cells, and natural killer (NK) cells. X-linked SCID (X-SCID) is its most common form. In this report, we describe a 4-month-old male with X-SCID who presented invagination and also showed hemophagocytic lymphohistiocytosis (HLH). The patient was admitted to our hospital with fever, cough, vomiting, monoliasis, and hepatosplenomegaly in postoperative period at the age of 3 months. The laboratory finding revealed no detectable T cells and hypogammaglobulinemia despite normal B-cell counts. Diagnosis of X-SCID was established by DNA analysis of the interleukin (IL)-2 receptor gamma chain gene (IL2RG); namely, we detected the novel mutation in the splice-site of exon 5 (c.595-1G>T). The patient died due to infection at the age of 4 months. Also, this case is the first report that describes the patient with X-SCID with presented invagination. PMID:25215194

  20. Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.

    Science.gov (United States)

    Marshall, Charlotte J; Arundel, Paul; Mushtaq, Talat; Offiah, Amaka C; Pollitt, Rebecca C; Bishop, Nicholas J; Balasubramanian, Meena

    2016-12-01

    Prompt and accurate diagnosis of skeletal dysplasias can play a crucial role in ensuring appropriate counseling and management (both antenatal and postnatal). When a skeletal dysplasia is detected during the antenatal period, especially early in the pregnancy, it can be associated with a poor prognosis. It is important to make a diagnosis in antenatal presentation of skeletal dysplasias to inform diagnosis, predict prognosis, provide accurate recurrence risks, and options for prenatal genetic testing in future pregnancies. Prenatal ultrasound scanning is a useful tool to detect several skeletal dysplasias and sonographic measurements serve as reliable indicators of lethality. The lethality depends on various factors including gestational age at which features are identified, size of the chest and progression of malformations. Although, it is important to type the skeletal presentation as accurately as possible, this is not always possible in an antenatal presentation and it is important to acknowledge this uncertainty. In the case of a live birth, it is always important to reassess the infant. Osteogenesis imperfecta (OI) is a heterogeneous group of disorders characterized by fragile bones. Here, we report an infant with severe OI born following a twin pregnancy in whom the bone disease is caused by a heterozygous pathogenic mutation, c.4160C >T, p.(Ala1387Val) located in the C-propeptide region of COL1A1. An assumption of lethality antenatally complicated his management in early life. We discuss this patient with particular emphasis on the neonatal presentation of a severe skeletal dysplasia and the lessons that may be learned in such situations. © 2016 Wiley Periodicals, Inc.

  1. Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing

    Science.gov (United States)

    Steinke, Julia M.; Krishnan, Ramaswamy; Birrane, Gabriel; Pollak, Martin R.

    2016-01-01

    Genetic testing in the clinic and research lab is becoming more routinely used to identify rare genetic variants. However, attributing these rare variants as the cause of disease in an individual patient remains challenging. Here, we report a patient who presented with nephrotic syndrome and focal segmental glomerulosclerosis (FSGS) with collapsing features at age 14. Despite treatment, her kidney disease progressed to end-stage within a year of diagnosis. Through genetic testing, an Y265H variant with unknown clinical significance in alpha-actinin-4 gene (ACTN4) was identified. This variant has not been seen previously in FSGS patients nor is it present in genetic databases. Her clinical presentation is different from previous descriptions of ACTN4 mediated FSGS, which is characterized by sub-nephrotic proteinuria and slow progression to end stage kidney disease. We performed in vitro and cellular assays to characterize this novel ACTN4 variant before attributing causation. We found that ACTN4 with either Y265H or K255E (a known disease-causing mutation) increased the actin bundling activity of ACTN4 in vitro, was associated with the formation of intracellular aggregates, and increased podocyte contractile force. Despite the absence of a familial pattern of inheritance, these similar biological changes caused by the Y265H and K255E amino acid substitutions suggest that this new variant is potentially the cause of FSGS in this patient. Our studies highlight that functional validation in complement with genetic testing may be required to confirm the etiology of rare disease, especially in the setting of unusual clinical presentations. PMID:27977723

  2. 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...... 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...... beta-cells, and ER exit was inhibited by approximately 50%. Two additional mutants, R55C (at the B/C junction) and R6H (in the signal peptide), were normally targeted to secretory granules, but nonetheless caused substantial ER stress. CONCLUSIONS: We describe three INS mutations cosegregating...

  3. An activating G{sub s}{alpha} mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Shenker, A.; Weinstein, L.S.; Spiegel, A.M. [National Institutes of Health, Bethesda, MD (United States); Sweet, D.E. [Armed Forces Institute of Pathology, Washington, DC (United States)

    1994-09-01

    McCune-Albright syndrome (MAS) is a sporadic disease characterized by polyostotic fibrous dysplasia, cafe-au-lait spots, and multiple endocrinopathies. The etiology of fibrous dysplasia is unknown. Activating mutations of codon 201 in the gene encoding the {alpha}-subunit of G{sub s}, the G-protein that stimulates adenylyl cyclase, have been found in all affected MAS tissues that have been studied. Initial attempts to amplify DNA from decalcified paraffin-embedded bone specimens from frozen surgical bone specimens from five MAS patients using polymerase chain reaction and allele-specific oligonucleotide hybridization. Most of the cells in four specimens of dysplastic bone contained a heterozygous mutation encoding substitution of Arg{sup 201} of G{sub s}{alpha} with His, but the mutation was barely detectable in peripheral blood specimens from the patients. Only a small amount of mutant allele was detected in a specimen of normal cortical bone from the fifth patient, although this patients had a high proportion of mutation in other, affected tissues. The mosaic distribution of mutant alleles is consistent with an embryological somatic cell mutation of the G{sub s}{alpha} gene in MAS. The presence of an activating mutation of G{sub s}{alpha} in osteoblastic progenitor cells may cause them to exhibit increased proliferation and abnormal differentiation, thereby producing the lesions of fibrous dysplasia. 43 refs., 2 figs.

  4. 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.

  5. 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

  6. 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.

  7. 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.

  8. Maize Mutator transposon

    Institute of Scientific and Technical Information of China (English)

    Yijun WANG; Mingliang XU; Dexiang DENG; Yunlong BIAN

    2008-01-01

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

  9. Resistance to ACCase inhibitors in Eleusine indica from Brazil involves a target site mutation Resistência aos inibidores de ACCase em Eleusine indica do Brasil envolve uma mutação na enzima alvo

    Directory of Open Access Journals (Sweden)

    M.D. Osuna

    2012-09-01

    Full Text Available Eleusine indica (goosegrass is a diploid grass weed which has developed resistance to ACCase inhibitors during the last ten years due to the intensive and frequent use of sethoxydim to control grass weeds in soybean crops in Brazil. Plant dose-response assays confirmed the resistant behaviour of one biotype obtaining high resistance factor values: 143 (fenoxaprop, 126 (haloxyfop, 84 (sethoxydim to 58 (fluazifop. ACCase in vitro assays indicated a target site resistance as the main cause of reduced susceptibility to ACCase inhibitors. PCR-generated fragments of the ACCase CT domain of the resistant and sensitive reference biotype were sequenced and compared. A point mutation was detected within the triplet of aspartate at the amino acid position 2078 (referred to EMBL accession no. AJ310767 and resulted in the triplet of glycine. These results constitute the first report on a target site mutation for a Brazilian herbicide resistant grass weed.Eleusine indica (ELEIN é uma espécie monocotiledônea, diploide. No Brasil, ela desenvolveu resistência aos inibidores da ACCase durante os últimos dez anos, devido ao uso intensivo e frequente desses graminicidas para controlar plantas daninhas em lavouras de soja. Experimentos de dose-resposta realizados com a planta confirmaram a resistência de um biótipo. Houve elevada tolerância aos herbicidas, com fatores de resistência da ordem de 143 (fenoxaprop, 126 (haloxyfop, 84 (sethoxydim e 58 (fluazifop. Ensaios com a enzima ACCase in vitro indicaram a insensibilidade desta como a principal causa de suscetibilidade reduzida a esses herbicidas. Fragmentos de PCR gerados do domínio CT da enzima ACCase dos biótipos resistente e sensível de referência foram sequenciados e comparados. Foi detectada uma mutação dentro do tripleto de asparagina na posição do aminoácido 2078 (referente ao acesso número AJ310767 no EMBL, que resultou no tripleto de glicina. Esses resultados constituem o primeiro caso

  10. 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.

  11. Detection of katG and inhA mutations to guide isoniazid and ethionamide use for drug-resistant tuberculosis

    Science.gov (United States)

    Bollela, V. R.; Namburete, E. I.; Feliciano, C. S.; Macheque, D.; Harrison, L. H.; Caminero, J. A.

    2017-01-01

    SUMMARY BACKGROUND Depending on the presence of mutations that determine isoniazid (INH) susceptibility (katG and inhA), Mycobacterium tuberculosis may be susceptible to high doses of INH or ethionamide (ETH). OBJECTIVE To describe the INH resistance profile and association of katG mutation with previous INH treatment and level of drug resistance based on rapid molecular drug susceptibility testing (DST) in southern Brazil and central Mozambique. DESIGN Descriptive study of 311 isolates from Ribeirão Preto, São Paulo, Brazil (2011–2014) and 155 isolates from Beira, Mozambique (2014–2015). Drug resistance patterns and specific gene mutations were determined using GenoType® MTBDRplus. RESULTS katG gene mutations were detected in 12/22 (54.5%) Brazilian and 32/38 (84.2%) Mozambican isolates. inhA mutations were observed in 9/22 (40.9%) isolates in Brazil and in 4/38 (10.5%) in Mozambique. Both katG and inhA mutations were detected in respectively 1/22 (5%) and 2/38 (5.2%). The difference in the frequency of katG mutations in Brazil and Mozambique was statistically significant (P = 0.04). katG mutations were present in 68.8% (33/48) of patients previously treated with INH and 31.2% (15/48) of patients without previous INH. This difference was not statistically significant (P = 0.223). CONCLUSION INH mutations varied geographically; molecular DST can be used to guide and accelerate decision making in the use of ETH or high doses of INH. PMID:27393546

  12. Ethnic-specific splicing mutation of the carnitine-acylcarnitine translocase gene in a Chinese neonate presenting with sudden unexpected death

    Institute of Scientific and Technical Information of China (English)

    林青云; 赖志刚; 周镇邦; 汤瑞芳; 袁月冰; 麦婉芳; 陈恩和

    2003-01-01

    Carnitine-acylcarnitine translocase (CACT) deficiency (OMIM 212138) is an autosomal recessive disease caused by mutations of the SLC25A20 gene [solute carrier family 25 (carnitine/acylcarnitine translocase), member 20]. The gene has an open reading frame of 903 bp,1 mapped to chromosome 3p21.31 by in situ hybridization,2 and encodes a protein having three repeated homologous domains, each about 100 amino acids in length-a characteristic feature of mitochondrial transport proteins.3,4 CACT is essential in long-chain fatty acid oxidation because CACT is located in the inner side of the inner mitochondrial membrane, shuttling long-chain acylcarnitines in the intermembranous space against carnitine in the mitochondrial matrix. The first patient with CACT deficiency reported in the United States,5 and the first patient reported in the United Kingdom6 are both of mixed ethnicity with one of the parents being Chinese. Intriguingly, there is no single case of CACT deficiency reported in Chinese populations, suggesting that this disease may be underdiagnosed in Chinese populations. In this study, we have confirmed that CACT deficiency can be a cause of sudden neonatal death in Chinese.

  13. 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.

  14. Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil

    Directory of Open Access Journals (Sweden)

    Victor Kosac

    2013-10-01

    Full Text Available Familial spinal muscular atrophy (FSMA associated with the vesicle-associated membrane protein-associated protein B (VAPB gene is a rare autosomal dominant disease with late onset and slow progression. We studied 10 of 42 patients from 5 families by taking clinical histories and performing physical exams, electrophysiological studies, and genetic tests. All patients presented late onset disease with slow progression characterized by fasciculations, proximal weakness, amyotrophy, and hypoactive deep tendon reflex, except two who exhibited brisk reflex. Two patients showed tongue fasciculations and respiratory insufficiency. Electrophysiological studies revealed patterns of lower motor neuron disease, and genetic testing identified a P56S mutation of the VAPB gene. Although it is a rare motor neuron disease, FSMA with this mutation might be much more prevalent in Brazil than expected, and many cases may be undiagnosed. Genetic exams should be performed whenever it is suspected in Brazil.

  15. Spotlight: Brazil.

    Science.gov (United States)

    Carter, M

    1996-08-01

    Brazil is South America's largest country and home to nearly half of the continent's people. Despite solid economic growth, Brazil has one of the world's widest income disparities. In the early 1990s, nearly 40% of urban and 66% of rural Brazilians lived in poverty. The streets of Brazil's cities are home to a large population of street children. Although it is difficult to estimate, 10 million children and youths may be either homeless or making a meager living off of the streets. Street children may be linked to prostitution and drugs and be the targets or perpetrators of violence. Child labor is an issue in Brazil. Today an estimated 30% of rural children and 9% of urban children ages 10-13 work in the formal economy. In some rural areas, 60% of workers are ages 5-17. Child labor also contributes to Brazil's relatively low educational attainment levels. UNICEF estimates that around 1990 only 1/3 of all Brazilian children continued on to secondary school, compared to 74% and 47%, respectively, for the Latin America and Caribbean regions. Immunization rates among Brazil's children are rising but still lag slightly behind regional averages. The mortality rate for children under age 5 decreased dramatically from 181 deaths for every 1000 live births in 1960 to 61/1000 in 1994. During the same time period, the average number of children born to a woman during her lifetime dropped from 6.2 to 2.8. This fertility decline is related in part to increased access to and acceptance of family planning. Contraceptive prevalence, including traditional and modern methods, is around 66%, with female sterilization and the pill being the most popular methods. Brazil's abortion rates are high, despite laws limiting access to abortion services. One estimate suggests that about 30% of all pregnancies are terminated through abortion each year.

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

    Directory of Open Access Journals (Sweden)

    Bevilacqua Roberta A.U.

    2000-01-01

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

  17. 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.

  18. Histopatologia de lesões tumoriformes presentes na cavidade nasal de eqüídeos do Brasil Histopathology of tumor-like masses present in the nasal cavity of equids from Brazil

    Directory of Open Access Journals (Sweden)

    Marcele Nogueira de Sousa Trotte

    2008-12-01

    Full Text Available Este estudo foi realizado com o objetivo de analisar os aspectos microscópicos e enfatizar a importância do exame histopatológico na determinação do diagnóstico de lesões tumoriformes na cavidade nasal de eqüídeos. Para tanto, foram estudados microscopicamente cortes de tecido de 11 eqüídeos com lesões tumoriformes na cavidade nasal. Essas amostras foram enviadas ao Serviço de Anatomia Patológica da Faculdade de Medicina Veterinária da Universidade Federal Fluminense, Niterói, Rio de Janeiro, no período de 2000 a 2004. Foram diagnosticados três casos de rinosporidiose, um de amiloidose, seis de pólipos nasais e um de hematoma etmoidal progressivo.The purpose of the present study was to analyze the microscopic aspects of tumor-like masses present in the nasal cavity of equids and also to emphasize the importance of histopathological examination for determining the diagnosis. Tissue sections of tumor-like masses from the nasal cavity of 11 equids were microscopically examined. These samples were sent to the Anatomic Pathology Service of the Veterinary Medicine College from the Fluminense Federal University, Niterói, Rio de Janeiro, from 2000 to 2004. Three cases of rhinosporidiosis, one of amyloidosis, six of nasal polyps and one of progressive ethmoid hematoma were diagnosed.

  19. The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections

    DEFF Research Database (Denmark)

    Krøigård, Anne Bruun; Hetland, Liv Eline; Clemmensen, Ole

    2016-01-01

    hyperhidrosis of the palms and soles along with palmoplantar keratoderma. He reported a very distinctive feature of the disorder, aquagenic wrinkling, as he developed pronounced maceration of the skin with translucent white papules and a spongy appearance following exposure to water. The patient presented...

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

    Science.gov (United States)

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

    2015-06-01

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

  1. 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

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

    Directory of Open Access Journals (Sweden)

    Mônica Barbosa de Melo

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

  3. 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.

  4. 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

  5. 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)

  6. Novel GAA mutations in patients with Pompe disease.

    Science.gov (United States)

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

    2015-04-25

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

  7. Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity

    Energy Technology Data Exchange (ETDEWEB)

    Desviat, L.R.; Perez, B.; De Lucca, M. [Universidad Autonoma de Madrid, (Spain)] [and others

    1995-08-01

    Phenylketonuria mutation V388M is frequent in the Iberian Peninsula. In vitro, the V388M mutant enzyme has similar immunoreactive protein and phenylalanine hydroxylase mRNA and had 43% residual activity, which correlates well with the mild phenotype exhibited by the homozygous patients. In Spain it has been detected in 5.7% of the mutant alleles and is always associated with haplotype 1.7. This mutation is also present in high frequency in some Latin American countries (Brazil, 9% Chile, 13%). It is interesting that in Chile most of the alleles bearing this mutation carry haplotype 4.3, although in Brazil it is found only on the background of haplotype 1.7. The origin of V388M in Spain on haplotype 1.7 and in Chile on haplotype 4.3 is clearly different. Recurrence is the most plausible explanation, because the mutation involves a CpG dinucleotide, and a recombination event transferring the mutation from haplotype 1 to 4 is unlikely. 29 refs., 2 figs., 3 tabs.

  8. 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).

  9. 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...

  10. 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.

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

    Institute of Scientific and Technical Information of China (English)

    周浩; 毛维艳; 白建波

    2016-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Naieli Bonatto

    2012-01-01

    Full Text Available 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 aimof 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, G288G and T515T, two missense mutations, I27L and A98V, were also detected. Clinical and laboratory data obtained from patients were compared with the molecular findings, including the I27L polymorphism that was revealed in some overweight/obese diabetic patients of this study, this corroborating with the literature. We found certain DNA variations that could explain the hyperglycemic phenotype of the patients.

  13. IHY activities in Brazil

    Science.gov (United States)

    Dal Lago, Alisson

    The International Heliophysical Year is a program of international scientific colaboration planned to be held in the period from 2007-2009. Many brazilian institutions have shown interest in participating in the IHY activities. All of them provided information about their instrumental facilities and contact person. A list of institutions and their information is shown in the Latin-American IHY webpage (http://www.alage.org/IHYLA/ihyla.html), hosted by the Latin American Association on Space Geophysics - ALAGE. IHY Brazilian activities are being conducted in close colaboration with Latin-American Institutions. Five Coordinated Investigation programs (CIPs) have been proposed by scientists from brazilian institutions. Recentely, in February 2008, there has been the Latin American IHY School in Sao Paulo (Brazil), with the participation of 80 students from Brazil, Argentina, Peru, Mexico and Cuba. In this work, a report on the brazilian activities will be presented.

  14. Mutations induced in plant breeding

    Energy Technology Data Exchange (ETDEWEB)

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

    1984-10-01

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

  15. 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.

  16. Popular Documentation and Communication Centres in Brazil.

    Science.gov (United States)

    Cardoso, Ana Maria P.

    1993-01-01

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

  17. 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.

  18. Oral health policies in Brazil

    Directory of Open Access Journals (Sweden)

    Gilberto Alfredo Pucca Junior

    2009-06-01

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

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

  20. 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....

  1. 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

  2. Dynamical Mutation of Dark Energy

    CERN Document Server

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

    2007-01-01

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

  3. Gerstmann-Sträussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature.

    Science.gov (United States)

    Rusina, Robert; Fiala, Jindřich; Holada, Karel; Matějčková, Milada; Nováková, Jana; Ampapa, Radek; Koukolík, František; Matěj, Radoslav

    2013-01-01

    Gerstmann-Sträussler-Scheinker syndrome is a rare autosomal dominant disease caused by a mutation in the prion gene, usually manifesting as progressive ataxia with late cognitive decline. A 44-year-old woman with a positive family history developed early personality and behavior changes, followed by paresthesias and ataxia, later associated with memory problems, pyramidal signs, anosognosia and very late myoclonus, spasticity, and severe dysexecutive impairment. Magnetic resonance showed caudate, mesio-frontal, and insular hyper-intensities, electroencephalography revealed generalized triphasic periodic complexes. A pathogenic P102L mutation in the prion gene was detected. Our case differed from classical Gerstmann-Sträussler-Scheinker syndrome by rapid progression, severe dementia, abnormal electroencephalography and magnetic resonance findings, which were highly suggestive of familial Creutzfeldt-Jakob disease.

  4. The biomass in the world and in the Brazil; Biomassa no mundo e no Brasil

    Energy Technology Data Exchange (ETDEWEB)

    Ingham, John McNeill [BG Technologies LLC, Sao Paulo, SP (Brazil)]. E-mail: bgssystems@bgtllc.com

    2000-07-01

    This paper presents the status of the biomass utilization in Brazil. The paper considers the subjects as follows: general aspects of biomass utilization, electric power generation, present situation in the Brazil and in the world, and typical applications.

  5. Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families.

    Science.gov (United States)

    Tanaka, A; Lai-Cheong, J E; Café, M E M; Gontijo, B; Salomão, P R; Pereira, L; McGrath, J A

    2009-03-01

    Inherited mutations in components of desmosomes result in a spectrum of syndromes characterized by variable abnormalities in the skin and its appendages, including blisters and erosions, palmoplantar hyperkeratosis, woolly hair or hypotrichosis and, in some cases, extracutaneous features such as cardiomyopathy. We investigated the molecular basis of two Brazilian patients presenting with clinical features consistent with ectodermal dysplasia-skin fragility syndrome. In patient 1 we identified a homozygous nonsense mutation, p.R672X, in the PKP1 gene (encoding plakophilin 1). This particular mutation has not been reported previously but is similar to the molecular pathology underlying other cases of this syndrome. In patient 2 we found compound heterozygosity for two frameshift mutations, c.2516del4 and c.3971del4, in the DSP gene (encoding desmoplakin). Although there was considerable clinical overlap in the skin and hair abnormalities in these two cases, patient 2 also had early-onset cardiomyopathy. The mutation c.3971del4 occurs in the longer desmoplakin-I isoform (which is the major cardiac transcript) but not in the more ubiquitous desmoplakin-II. In contrast, PKP1 is not expressed in the heart, which accounts for the lack of cardiomyopathy in patient 1. Collectively, these cases represent the first desmosomal genodermatoses to be reported from Brazil and add to genotype-phenotype correlation in this group of inherited disorders. Loss-of-function mutations in the DSP gene can result in a phenotype similar to ectodermal dysplasia-skin fragility syndrome resulting from PKP1 mutations but only DSP pathology is associated with cardiac disease.

  6. Manaus, Brazil

    Science.gov (United States)

    2002-01-01

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

  7. 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.)

  8. CF Mutation Panel

    Science.gov (United States)

    ... Testing; Cystic Fibrosis Transmembrane Conductance Regulator Mutation Analysis; CFTR Mutation Analysis Formal name: Cystic Fibrosis Gene Mutation ... an elevated immunoreactive trypsinogen (IRT) or positive sweat chloride test , to confirm the diagnosis of cystic fibrosis. ...

  9. The E180splice mutation in the GHR gene causing Laron syndrome: witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

    Science.gov (United States)

    Gonçalves, Fernanda T; Fridman, Cintia; Pinto, Emília M; Guevara-Aguirre, Jaime; Shevah, Orit; Rosembloom, Arlan L; Hwa, Vivian; Cassorla, Fernando; Rosenfeld, Ron G; Lins, Theresa S S; Damiani, Durval; Arnhold, Ivo J P; Laron, Zvi; Jorge, Alexander A L

    2014-05-01

    Laron syndrome (LS) is a genetic disorder caused by mutations in the growth hormone receptor (GHR) gene. The most frequent GHR mutation is E180splice (rs121909360), which was initially found in an inbred population of Spanish descent in Ecuador and subsequently in Israel, Brazil, Chile, and the United States. The aim of the present study is to determine if the E180splice mutation arose from a common origin. We studied 22 patients with LS from Ecuador, Israel (of Moroccan origin), Brazil, Chile, and the United States (of Mexican origin) who were homozygous for the E180splice mutation and compared them to control individuals for markers surrounding the GHR, intragenic polymorphisms, and Y-chromosome STR. An identical haplotype was found in all but one of the subjects carrying the E180splice mutation: D5S665: 150/150; D5S2082: 192/192; D5S2087: 246/246; rs6179 G/G; and rs6180 C/C. One patient differed from the others only at D5S2082 (168/192). This haplotype is rare (~1%) in control individuals and confirmed that the E180splice-associated haplotype was not derived from independent origins but represented recombination from a common ancestor. The analysis of paternal lineage markers showed that 50% belong to haplogroup R1b (found in Portugal and Spain) and 40% to haplogroups J and E (typical in the Middle East and in Eastern European Jews). The germline E180Splice mutation appears to have originated from a single common ancestor. The presence of Y-chromosome markers associated with Sephardic populations in persons harboring the E180splice mutation provides genetic evidence in support of the historical tracking of the exodus of this specific population.

  10. 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.

  11. 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.

  12. Mutations causative of familial hypercholesterolaemia

    DEFF Research Database (Denmark)

    Benn, Marianne; Watts, Gerald F; Tybjærg-Hansen, Anne

    2016-01-01

    AIMS: Ideally, familial hypercholesterolaemia (FH) is diagnosed by testing for mutations that decrease the catabolism of low-density lipoprotein (LDL) cholesterol; however, genetic testing is not universally available. The aim of the present study was to assess the frequency and predictors of FH...... causing mutations in 98 098 participants from the general population, the Copenhagen General Population Study. METHODS AND RESULTS: We genotyped for LDLR[W23X;W66G;W556S] and APOB[R3500Q] accounting for 38.7% of pathogenic FH mutations in Copenhagen. Clinical FH assessment excluded mutation information....... The prevalence of the four FH mutations was 0.18% (1:565), suggesting a total prevalence of FH mutations of 0.46% (1:217). Using the Dutch Lipid Clinic Network (DLCN) criteria, odds ratios for an FH mutation were 439 (95% CI: 170-1 138) for definite FH, 90 (53-152) for probable FH, and 18 (13-25) for possible FH...

  13. Drug resistance of Mycobacterium tuberculosis strains in southern Brazil

    Directory of Open Access Journals (Sweden)

    Laynara Katize Grutzmacher

    2012-02-01

    Full Text Available INTRODUCTION: The aim of this work was to evaluate the prevalence of Mycobacterium tuberculosis (MT strains with mutations that could result in resistance to the main drugs used in treatment in a region with one of the highest numbers of tuberculosis (TB cases in southern Brazil. METHODS: Deoxyribonucleic acid (DNA from 120 sputum samples from different patients suspicious of pulmonary tuberculosis who attended the Municipal Public Laboratory for Mycobacterium sp. diagnosis was directly amplified and analyzed by PCR-SSCP. The DNA was amplified in known hotspot mutation regions of the genes rpoB, ahpC, embB, katG, inhA, and pncA. RESULTS: The percentage of samples positive by culture was 9.2% (11/120; 5% (6/120 were positive by bacilloscopy and MT-PCR, and DNA fragments of the aforementioned resistance genes could be amplified from seven (7 of the eleven (11 samples with positive results, either by culture or PCR/bacilloscopy. All presented a SSCP pattern similar to a native, nonresistant genotype, with the ATCC strain 25177 as control, except for one sample (0.01%, which presented a SSCP profile demonstrating mutation at the embB gene. CONCLUSIONS: These results are consistent with the empirical observations by physicians treating TB patients in our region of a low occurrence of cases that are refractory to conventional treatment schemes, in contrast to other parts of the country. Continued surveillance, especially molecular, is essential to detect and monitor the outbreak of MT-resistant strains.

  14. 21-Hydroxylase deficiency in Brazil

    Directory of Open Access Journals (Sweden)

    T.A.S.S. Bachega

    2000-10-01

    Full Text Available We determined the frequency of large rearrangements and point mutations in 130 Brazilian patients with 21-hydroxylase deficiency and correlated genotype with phenotype. The frequency of CYP21 deletions was lower (4.4% than in most of the previous series described, whereas the frequency of large gene conversions was similar to the frequency reported in the literature (6.6%. The most frequent point mutations were I2 splice (41.8% in salt wasting - SW, I172N (32.6% in simple virilizing - SV and V281L (40.2% in the late onset form - LO. The frequency of the nine most common point mutations was similar to that reported for other countries. The 93 fully genotyped patients were classified into 3 mutation groups based on the degree of enzymatic activity (A@ 2%, C>20%. In group A, 62% of cases presented the SW form; in group B, 96% the SV form, and in group C, 88% the LO form. We diagnosed 80% of the affected alleles after screening for large rearrangements and 15 point mutations. To diagnose these remaining alleles we sequenced the CYP21 gene of one patient with the SV form and identified a heterozygous G->A transition in codon 424. This mutation leads to a substitution of glycine by serine in a conserved region and was also found in a compound heterozygous state in 4 other patients. The mutation G424S presented a linkage disequilibrium with CYP21P and C4A gene deletions and HLA DR17, suggesting a probable founder effect. Search for the G424S mutation in other populations will reveal if it is restricted to the Brazilian patients or if it has a wider ethnic distribution.

  15. 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.

  16. Spherical tokamak development in Brazil

    Energy Technology Data Exchange (ETDEWEB)

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

    2003-12-01

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

  17. 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)

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

    Science.gov (United States)

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

    2011-01-01

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

  19. Appendiceal taeniasis presenting like acute appendicitis.

    Science.gov (United States)

    Sartorelli, Alesso Cervantes; da Silva, Márcia Guimarães; Rodrigues, Maria Aparecida Marchesan; da Silva, Reinaldo José

    2005-09-01

    A case of parasitic appendicitis caused by Taenia sp. in a 28-year-old woman from Brazil is reported. Histopathological data and a description of the helminthe found in the appendix lumen are presented.

  20. Calibração das câmaras de ionização para feixes de tomografia computadorizada no Brasil: a realidade atual Calibration of ionization chambers for computed tomography beams in Brazil: the present reality

    Directory of Open Access Journals (Sweden)

    Ana Figueiredo Maia

    2006-06-01

    Full Text Available OBJETIVO: O objetivo deste trabalho foi estabelecer, no Laboratório de Calibração de Instrumentos do Instituto de Pesquisas Energéticas e Nucleares, uma metodologia de calibração específica para as câmaras de ionização tipo lápis, que são utilizadas em procedimentos dosimétricos em feixes de tomografia computadorizada, seguindo as mais recentes recomendações internacionais. MATERIAIS E MÉTODOS: Foram utilizados, neste estudo, um equipamento de radiação X industrial, várias câmaras de ionização, um sistema de colimação móvel (tipo diafragma e vários filtros de alumínio de alta pureza. RESULTADOS: Foram estabelecidos os campos padrões de radiodiagnóstico descritos na norma internacional IEC 61267, e foi elaborado um procedimento de calibração adequado para as câmaras de ionização tipo lápis. CONCLUSÃO: Atualmente, já é possível calibrar apropriadamente as câmaras de ionização tipo lápis no Brasil. O procedimento de calibração foi definido com base nas recomendações internacionais e em testes feitos com duas metodologias distintas.OBJECTIVE: The aim of this study was to establish a calibration methodology specific for pencil ionization chambers used in computed tomography dosimetric procedures, in compliance with the most recent recommendations. The study was developed at the Calibration Laboratory of the Instituto de Pesquisas Energéticas e Nucleares. MATERIALS AND METHODS: An industrial x-ray equipment, several types of ionization chambers, a mobile collimator (diaphragm type, and several high purity aluminum filters were utilized in this study. RESULTS: Diagnostic radiology standard irradiation fields were established according to IEC 61267 standard, and an adequate calibration procedure for pencil ionization chambers was elaborated. CONCLUSION: The appropriate calibration of pencil ionization chambers is already a reality in Brazil. The calibration procedure was defined on the basis of

  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. 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.

  3. Methods for detection of ataxia telangiectasia mutations

    Energy Technology Data Exchange (ETDEWEB)

    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.

  4. The inheritance of pathogenic mitochondrial DNA mutations

    OpenAIRE

    Cree, L.M.; Samuels, D.C.; Chinnery, P F

    2009-01-01

    Abstract Mitochondrial DNA mutations cause disease in >1 in 5000 of the population, and ~1 in 200 of the population are asymptomatic carriers of a pathogenic mtDNA mutation. Many patients with these pathogenic mtDNA mutations present with a progressive, disabling neurological syndrome that leads to major disability and premature death. There is currently no effective treatment for mitochondrial disorders, placing great emphasis on preventing the transmission of these diseases. An e...

  5. 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...

  6. [TP53 mutations and molecular epidemiology].

    Science.gov (United States)

    Otsuka, Kazunori; Ishioka, Chikashi

    2007-05-01

    Tumor suppressor p53 protein is activated by a variety of cellular stresses through several pathways and transactivates its downstream genes, including regulators of cell cycle, apoptosis and DNA repair. The loss of p53 function by TP53 gene mutations therefore fails to activate these genes and is thought to be a critical cause of carcinogenesis and/or tumor progression. TP53 is one of the most frequently mutated genes in human cancer. TP53 mutations are found in about 50% of human cancers, although the frequency of TP53 mutations differs among tumor types. However, the degree of functional disorder of mutant p53 varies according to the type of TP53 mutation. And the effects of p53 on cancer formation and/or progression are influenced by the degree of p53 dysfunction. So it is important to analyze the effects of TP53 mutations carefully according to the oncogenicity of each mutation from the molecular epidemiological point of view. Here, together with some cautions needed for analyzing and interpreting the significance of TP53 gene mutations, we present some examples of the identified specific mutation spectrum and the correlation between the prognosis and TP53 mutation in some cancers.

  7. 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…

  8. 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.

  9. 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.

  10. 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.

  11. 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.

  12. Climatic change in northeastern Brazil: paleoparasitological data

    Directory of Open Access Journals (Sweden)

    Adauto Araujo

    1993-12-01

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

  13. 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.

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

    Directory of Open Access Journals (Sweden)

    P.L. Bittencourt

    2002-03-01

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

  15. Neotectonics in northeastern Brazil

    Science.gov (United States)

    Bezerra, Francisco Hilario Rego

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

  16. 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.

  17. Novel PORCN mutations in focal dermal hypoplasia.

    Science.gov (United States)

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

    2009-12-01

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

  18. Recurrent APC gene mutations in Polish FAP families

    Directory of Open Access Journals (Sweden)

    Pławski Andrzej

    2007-12-01

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

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

    Directory of Open Access Journals (Sweden)

    Natalia Capriotti

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

  20. 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.

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

    Science.gov (United States)

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

    2013-06-01

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

  2. 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.

  3. H3 internationalization to Brazil

    OpenAIRE

    2012-01-01

    A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics h3 is a Portuguese firm competing in the fast food market with a hamburger gourmet concept. The firm is now a strong player in Portugal (39 stores); Poland, Warsaw (1 store); Spain, Madrid (1 store) and Brazil, São Paulo (2 stores). As a result of their successes in the domestic market, internationalization was a natural step. One o...

  4. 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)

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

    Directory of Open Access Journals (Sweden)

    José Milton E. Matos

    2007-04-01

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

  6. Perfil socioeconômico dos portadores de glaucoma no serviço de oftalmologia do hospital universitário da Universidade Federal de Juiz de Fora - Minas Gerais - Brasil Socioeconomic profile of individuals presenting with glaucoma in the service of ophthalmology of the University Hospital of the Federal University of Juiz de Fora - Minas Gerais - Brazil

    Directory of Open Access Journals (Sweden)

    Cristiana Moraes Ramalho

    2007-10-01

    Full Text Available OBJETIVO: Avaliação do perfil socioeconômico dos pacientes portadores de glaucoma primário em acompanhamento no serviço de oftalmologia do hospital universitário da Universidade Federal de Juiz de Fora (MG, Brasil. MÉTODOS: Aplicação de um questionário em 100 pacientes durante suas consultas no serviço de oftalmologia do hospital universitário da Universidade Federal de Juiz de Fora, no período de abril de 2005 a junho de 2006. RESULTADOS: Observou-se que 84% dos pacientes eram pensionistas ou aposentados, 86% recebiam de 1 a 2 salários mínimos, 29% gastavam de 26 a 75 reais/mês com o tratamento do glaucoma, 78% apresentavam co-morbidades e 41% já haviam suspendido o tratamento por falta de condições financeiras para a compra das medicações. CONCLUSÃO: A população em estudo, de baixo nível socioeconômico, apresenta dificuldades de adesão terapêutica por, principalmente, problemas financeiros e presença de co-morbidades. Os autores reforçam a urgente necessidade de adoção de medidas sociopolíticas que facilitem o acesso à medicação antiglaucomatosa, determinando maior aderência terapêutica.PURPOSE: To assess the socioeconomic profile of individuals presenting with primary glaucoma at the ophthalmology service of the university hospital of the Feredal University of Juiz de Fora (MG, Brazil. METHODS: Submission of a questionnaire to 100 individuals during consultation in the ophthalmology service of the university hospital of Federal University of Juiz de Fora (MG, Brazil. RESULTS: Eighty-four per cent of individuals were pensioners or retired, 86% had a monthly income of 1 to 2 salaries, 29% had been spending 26 to 75 reais per month with glaucoma therapy, 78% presented with comorbidities and 41% had already abandoned treatment due to financial difficulties in buying the medication. CONCLUSION: The low-socioeconomic-level studied population presents with therapeutic compliance difficulties mainly due to

  7. 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.

  8. Zika: Why Brazil, Why Now

    Science.gov (United States)

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

  9. 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…

  10. 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.

  11. CATCHY PRESENTATIONS

    DEFF Research Database (Denmark)

    Eriksen, Kaare; Tollestrup, Christian; Ovesen, Nis

    2011-01-01

    An important competence for designers is the ability to communicate and present ideas and proposals for customers, partners, investors and colleagues. The Pecha Kucha principle, developed by Astrid Klein and Mark Dytham, has become a widely used and easy format for the presentation of new concepts...

  12. Grass inflorescence mutations and their role in speciation

    Directory of Open Access Journals (Sweden)

    Romuald Kosina

    2015-05-01

    Full Text Available Several examples of natural mutants in the grass family were presented. All appeared as changes in inflorescence structure. In mutated plants chasmogamy was restricted due to anomalous lodicules or compactness of ears. A rare glumeless mutation in Agropyron pectiniforme reduced the level of assimilation in the ear. All mutations appear as unfavorable in natural populations.

  13. 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.

  14. 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

  15. Corporate Governance Country Assessment : Brazil

    OpenAIRE

    World Bank

    2005-01-01

    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. Three kinds of mutation

    CERN Document Server

    Buan, Aslak Bakke; Thomas, Hugh

    2010-01-01

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

  17. [A better Brazil].

    Science.gov (United States)

    Lesser, Jeffrey

    2014-01-01

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

  18. Information Presentation

    Science.gov (United States)

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

    2009-01-01

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

  19. Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.

    OpenAIRE

    2010-01-01

    7 pages; International audience; Mutations in the leucine-rich-repeat kinase 2 (LRRK2) gene have been identified in families with autosomal dominant Parkinson's disease (PD) and in sporadic cases; the G2019S mutation is the single most frequent. Intriguingly, the frequency of this mutation in PD patients varies greatly among ethnic groups and geographic origins: it is present at

  20. Information Presentation

    Science.gov (United States)

    Holden, K.L.; Boyer, J.L.; Sandor, A.; Thompson, S.G.; McCann, R.S.; Begault, D.R.; Adelstein, B.D.; Beutter, B.R.; Stone, L.S.

    2009-01-01

    The goal of the Information Presentation Directed Research Project (DRP) is to address design questions related to the presentation of information to the crew. The major areas of work, or subtasks, within this DRP are: 1) Displays, 2) Controls, 3) Electronic Procedures and Fault Management, and 4) Human Performance Modeling. This DRP is a collaborative effort between researchers at Johnson Space Center and Ames Research Center.

  1. 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

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

    Science.gov (United States)

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

    2012-10-01

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

  3. Scientific integrity in Brazil.

    Science.gov (United States)

    Lins, Liliane; Carvalho, Fernando Martins

    2014-09-01

    This article focuses on scientific integrity and the identification of predisposing factors to scientific misconduct in Brazil. Brazilian scientific production has increased in the last ten years, but the quality of the articles has decreased. Pressure on researchers and students for increasing scientific production may contribute to scientific misconduct. Cases of misconduct in science have been recently denounced in the country. Brazil has important institutions for controlling ethical and safety aspects of human research, but there is a lack of specific offices to investigate suspected cases of misconduct and policies to deal with scientific dishonesty.

  4. 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.

  5. 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.

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

    Institute of Scientific and Technical Information of China (English)

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

    2016-01-01

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

  7. Gestational mutations in radiation carcinogenesis

    Science.gov (United States)

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

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

  8. LMNA mutations in progeroid syndromes.

    Science.gov (United States)

    Huang, Shurong; Kennedy, Brian K; Oshima, Junko

    2005-01-01

    Segmental progeroid syndromes are disorders in which affected individuals. present various features that suggest accelerated ageing. The two best-known examples are Hutchinson-Gilford progeria syndrome (HGPS, 'Progeria of childhood') and Werner syndrome (WS, 'Progeria of the adult'). A novel, recurrent de novo mutation in the LMNA gene, responsible for the majority of HGPS cases, results in an in-frame deletion of 50 amino acids, including endoproteolytic sites required for processing of prelamin A to mature lamin A protein. Another mutation results in a 35 amino acid in-frame deletion with a milder HGPS phenotype. WRN, the gene responsible for the majority of WS cases, encodes a multifunctional nuclear protein with exonuclease and helicase activities and may participate in optimizing DNA repair/recombination. A subset of WS patients do not show mutations at the WRN locus (atypical WS), but show heterozygous amino acid substitutions in the heptad repeat region of lamin A. Structural analysis suggests that mutations in atypical WS may interfere with protein-protein interactions. When compared to WRN-mutant WS, LMNA-mutant atypical WS patients appear to show earlier onset and possibly more severe ageing-related symptoms.

  9. Voting Present

    Directory of Open Access Journals (Sweden)

    James Lo

    2013-12-01

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

  10. 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...

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

    Science.gov (United States)

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

    2008-06-01

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

  12. Overview Presentation

    Science.gov (United States)

    Lytle, John

    2001-01-01

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

  13. 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.

  14. English Teaching Profile: Brazil.

    Science.gov (United States)

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

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

  15. Adult Education in Brazil.

    Science.gov (United States)

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

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

  16. Mutation and premating isolation.

    Science.gov (United States)

    Woodruff, R C; Thompson, J N

    2002-11-01

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

  17. 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

  18. 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.

  19. Asian genotypes of dengue virus 4 in Brazil.

    Science.gov (United States)

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

    2015-10-01

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

  20. 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)

  1. Prevalent mutations in fatty acid oxidation disorders

    DEFF Research Database (Denmark)

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

    2000-01-01

    UNLABELLED: The mutational spectrum in a given disease-associated gene is often comprised of a large number of different mutations, of which a single or a few are present in a large proportion of diseased individuals. Such prevalent mutations are known in four genes of the fatty acid oxidation: t...... of the disease in question and determination of the carrier frequency in the general population may help in elucidating the penetrance of the genotype. This is exemplified in disorders of mitochondrial fatty acid oxidation....

  2. Particle Swarm Optimization with Adaptive Mutation

    Institute of Scientific and Technical Information of China (English)

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

    2006-01-01

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

  3. Technical presentation

    CERN Multimedia

    FP Department

    2009-01-01

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

  4. Thimerosal: current sources of contact in Brazil*

    Science.gov (United States)

    Rocha, Vanessa Barreto; Scherrer, Maria Antonieta Rios

    2014-01-01

    Thimerosal is an organic mercury derivative found in ophthalmic solutions and certain vaccines in Brazil. Although most studies suggest the prevalence of thimerosal sensitivity to be quite high, this condition does not currently have any clinical relevance. The present article surveyed 184 Brazilian products (151 topical medications and 33 vaccines) and found that thimerosal was only present in 3 ophthalmic solutions and 5 vaccines. PMID:24770530

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

    Directory of Open Access Journals (Sweden)

    Joao Leandro Paula Ferreira

    2013-01-01

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

  6. (Somatic mutations in nuclear and mitochondrial DNA)

    Energy Technology Data Exchange (ETDEWEB)

    1992-01-01

    The study is concerned the design of new assays that may detect rare somatic mutations in nuclear and mitochondrial DNA, which may increase upon exposure to mutagens, and thus become a marker of human exposure to such mutagens. Two assays for somatic mutation were presented, one for mitochondrial DNA deletions which was developed by the author, and one for deletions of the ADA gene which resides in the nucleus.

  7. 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.

  8. Spectrum of small mutations in the dystrophin coding region.

    Science.gov (United States)

    Prior, T W; Bartolo, C; Pearl, D K; Papp, A C; Snyder, P J; Sedra, M S; Burghes, A H; Mendell, J R

    1995-07-01

    Duchenne and Becker muscular dystrophies (DMD and BMD) are caused by defects in the dystrophin gene. About two-thirds of the affected patients have large deletions or duplications, which occur in the 5' and central portion of the gene. The nondeletion/duplication cases are most likely the result of smaller mutations that cannot be identified by current diagnostic screening strategies. We screened approximately 80% of the dystrophin coding sequence for small mutations in 158 patients without deletions or duplications and identified 29 mutations. The study indicates that many of the DMD and the majority of the BMD small mutations lie in noncoding regions of the gene. All of the mutations identified were unique to single patients, and most of the mutations resulted in protein truncation. We did not find a clustering of small mutations similar to the deletion distribution but found > 40% of the small mutations 3' of exon 55. The extent of protein truncation caused by the 3' mutations did not determine the phenotype, since even the exon 76 nonsense mutation resulted in the severe DMD phenotype. Our study confirms that the dystrophin gene is subject to a high rate of mutation in CpG sequences. As a consequence of not finding any hotspots or prevalent small mutations, we conclude that it is presently not possible to perform direct carrier and prenatal diagnostics for many families without deletions or duplications.

  9. 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.

  10. Mutations in GABRB3

    DEFF Research Database (Denmark)

    Møller, Rikke S; Wuttke, Thomas V; Helbig, Ingo

    2017-01-01

    OBJECTIVE: To examine the role of mutations in GABRB3 encoding the β3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes. METHODS: We performed massive parallel sequencing...... of GABRB3 in 416 patients with a range of epileptic encephalopathies and childhood-onset epilepsies and recruited additional patients with epilepsy with GABRB3 mutations from other research and diagnostic programs. RESULTS: We identified 22 patients with heterozygous mutations in GABRB3, including 3...... probands from multiplex families. The phenotypic spectrum of the mutation carriers ranged from simple febrile seizures, genetic epilepsies with febrile seizures plus, and epilepsy with myoclonic-atonic seizures to West syndrome and other types of severe, early-onset epileptic encephalopathies...

  11. 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 different applications, for example, in the detection of correlated evolution and to identify selection acting on DNA sequences. However, many uses of parsimony mappings have been criticized because they focus on only one of many possible mappings and/or because they do not incorporate statistical...... uncertainty in the mapping. Recently developed probabilistic methods can incorporate statistical uncertainty in the character mappings. In these methods, focus is on a probability distribution of mutational mappings instead of a single estimate of the mutational mapping....

  12. Mutation analysis of 28 gaucher disease patients: The Australasian experience

    Energy Technology Data Exchange (ETDEWEB)

    Lewis, B.D.; Nelson, P.V.; Robertson, E.F.; Morris, C.P. [Women`s and Children`s Hospital, North Adelaide, South Australia (Australia)

    1994-01-15

    Gaucher disease is the most common lysomal storage disease. It is an autosomal recessive disorder that results from a deficiency of {beta}-glucocerrebrosidase. Three clinical phenotypes have been described: non-neuronopathic, acute neuronopathic, and subacuteneuronopathic. Genomic DNA from 28 Australasian patients of diverse ethnic origin with Gaucher disease was screened for 3 common mutations (1226G, 1448C and 84GG) using the amplification refractory mutation system (ARMS), and one uncommon mutation (1504T) by restriction enzyme digestion. Thirty-eight of the 56 independent alleles in these patients were characterized, with 1448C present in 42% and 1226G in 28% of the alleles. The 1226G mutation was associated only with the nonneuronopathic phenotype and 7 of the 15 patients who carried the 1448C mutation developed neuronopathic disease. Three infants who died in the neonatal period following a rapidly progressive neurodegenerative course carried no identifiable mutations. The 84GG mutation was carried by 2 Jewish patients and 1504T was present in one patient. It is now possible to rapidly identify the common Gaucher mutations using ARMS and restriction enzyme digestion, and our findings confirm the heterogeneity of mutations in Gaucher disease. It is also possible to predict in part the phenotypic outcome when screening patients for these mutations. The authors consider mutation analysis to be of most use in prenatal diagnosis and for carrier detection within affected families. 27 refs., 2 figs., 2 tabs.

  13. 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...

  14. Innovation Policies of Brazil

    Science.gov (United States)

    2013-09-01

    by the other BRIC countries, particularly China. 18 Discussions with experts. See the appendix. 19 Brazil can have a low actual tariff rate of...Cassiolato, J. E., M. G Podcameni, M. C. Couto Soares, M. Szapiro, P. Koeller, F. Stalivieri, and F. Geremia. 2010. “ BRICS Description and Dynamics of...the Future of Internation Order. Center for a New American Security. Koeller, P, and J. L. Gordon. 2010. “ BRICS the Role of the State in National

  15. Analysis of HIV-1 protease gene reveals frequent multiple infections followed by recombination among drug treated individuals living in Sao Paulo and Santos, Brazil.

    Directory of Open Access Journals (Sweden)

    Edsel Renata De Morais Nunes

    Full Text Available The present study investigated the prevalence of HIV-1 multiple infections in a population composed by 47 patients under HAART failure and enrolled at the National DST/AIDS, Program, Ministry of Health, Brazil.Detection of multiple infections was done using a previously published RFLP assay for the HIV-1 protease gene, which is able of distinguishing between infections caused by a single or multiple HIV-1 subtypes. Samples with multiple infections were cloned, and sequence data submitted to phylogenetic analysis. We were able to identify 17 HIV-1 multiple infections out of 47 samples. Multiple infections were mostly composed by a mixture of recombinant viruses (94%, with only one case in which protease gene pure subtypes B and F were recovered. This is the first study that reports the prevalence of multiple infections and intersubtype recombinants in a population undergoing HAART in Brazil. Based on the data there was a steep increase of multiple infections after the introduction of the combined antiretroviral therapy in Brazil. Cases of multiple infections may be associated with HIV-1 genetic diversity through recombination allowing for the generation of viruses showing a combination of resistance mutations.

  16. Timeline and geographical distribution of Helicoverpa armigera (Hübner (Lepidoptera, Noctuidae: Heliothinae in Brazil

    Directory of Open Access Journals (Sweden)

    Daniel R. Sosa-Gómez

    2016-03-01

    Full Text Available ABSTRACT This study presents registers of Helicoverpa armigera (Hübner occurrence to assess its spatial and temporal distribution in Brazil. We used data from collections, especially from the Southern Region, systematic collections in Rio Grande do Sul, occasional collections of caterpillars and adults in different regions of Brazil, as well as literature registers. We conclude that the introduction of H. armigera in Brazil probably occurred before October 2008. We also register that in August 2012 H. armigera was already present from the extreme southern part (Rio Grande do Sul to the extreme northern part (Amapá of Brazil.

  17. Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases.

    Science.gov (United States)

    Guerreiro, Rita Joao; Santana, Isabel; Bras, Jose Miguel; Revesz, Tamas; Rebelo, Olinda; Ribeiro, Maria Helena; Santiago, Beatriz; Oliveira, Catarina Resende; Singleton, Andrew; Hardy, John

    2008-07-15

    Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin positive frontotemporal dementia (FTD) in many families. Different frequencies of these genetic changes have been reported in diverse populations leading us to determine if these mutations were a major cause of FTD in the Portuguese population. The entire coding sequence plus exon 0 of PGRN were sequenced in a consecutive series of 46 FTD/CBS Portuguese patients. Two mutations were found: a novel pathogenic insertion (p.Gln300GlnfsX61) and a previously described point variant (p.T182M) of unclear pathogenicity. Pathogenic mutations in the PGRN gene were found in one of the 36 probands studied (3% of the probands in our series) who had a corticobasal syndrome presentation, indicating that in the Portuguese population, mutations in this gene are not a major cause of FTD.

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

    Science.gov (United States)

    Leite, José Paulo Gagliardi; Miagostovich, Marize Pereira

    2016-01-01

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

  19. 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.

  20. 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.

  1. Early mutation bursts in colorectal tumors

    Science.gov (United States)

    Salomon, Matthew P.; Shibata, Darryl; Curtis, Christina; Siegmund, Kimberly; Marjoram, Paul

    2017-01-01

    Tumor growth is an evolutionary process involving accumulation of mutations, copy number alterations, and cancer stem cell (CSC) division and differentiation. As direct observation of this process is impossible, inference regarding when mutations occur and how stem cells divide is difficult. However, this ancestral information is encoded within the tumor itself, in the form of intratumoral heterogeneity of the tumor cell genomes. Here we present a framework that allows simulation of these processes and estimation of mutation rates at the various stages of tumor development and CSC division patterns for single-gland sequencing data from colorectal tumors. We parameterize the mutation rate and the CSC division pattern, and successfully retrieve their posterior distributions based on DNA sequence level data. Our approach exploits Approximate Bayesian Computation (ABC), a method that is becoming widely-used for problems of ancestral inference. PMID:28257429

  2. Selaginella P. Beauv. from Minas Gerais, Brazil

    Directory of Open Access Journals (Sweden)

    Gustavo Heringer

    2016-03-01

    Full Text Available Selaginella P. Beauv. is the only genus in the family Selaginellaceae Willk. The genus is monophyletic, has a cosmopolitan distribution, contains about 750 species and can be characterized by the presence of rhizophores, leaves, a ligule, heterospory and adaxial, reniform sporangia. Twenty species were found in the study area: Selaginella alstonii, S. contigua, S. convoluta, S. decomposita, S. erectifolia, S. erythropus, S. flexuosa, S. jungermannioides, S. macrostachya, S. marginata, S. microphylla, S. muscosa, S. producta, S. sellowii, S. sematophylla, S. suavis, S. sulcata, S. tenella, S. tenuissima and S. vestiens. Two new species records for the state are presented (S. jungermannioides and S. tenella. We present descriptions of the genus and species, an identification key, the synonyms pertaining to Brazil, illustrations, and comments about the taxonomy and distribution of species in Brazil.

  3. Danish Literature in Brazil: Notes on Translation and Criticism

    Directory of Open Access Journals (Sweden)

    Vitor Amaral

    2012-09-01

    Full Text Available This article aims to present and analyse some examples of translation and criticism of Danish literature in Brazil. It will demonstrate that the dialogue between Denmark and Brazil in the literary field has more eventful a history than one can imagine at first. Translation and criticism are regarded as two complementary ways to disseminate a literature in foreign places. To the reader who knows little or nothing about the reception of Danish literature in Brazil, this article can provide the initial elements for a further research. There is not any attempt towards comprehensiveness, and this article remains a discrete look of its author’s over the reception of Danish literature in Brazil.

  4. Homeschooling in Brazil: A Matter of Rights or a Political Debate?

    Science.gov (United States)

    Barbosa, Luciane Muniz Ribeiro

    2016-01-01

    This article presents an analysis of the right to education in Brazil in light of the growing number of Brazilian families practicing homeschooling. The debate is recent in Brazil. Here we present an analysis of international literature on homeschooling, Brazilian literature on the right to education, and an appraisal of lawsuits against Brazilian…

  5. 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…

  6. 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.

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

    Science.gov (United States)

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

    2015-06-11

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

  8. Timeline and geographical distribution of Helicoverpa armigera (Hübner) (Lepidoptera, Noctuidae: Heliothinae) in Brazil

    OpenAIRE

    Sosa-Gómez, Daniel R.; Alexandre Specht; Paula-Moraes, Silvana V.; Adilson Lopes-Lima; Silvia A.C. Yano; Adriana Micheli; Morais,Elisangela G.F.; Paulo Gallo; Pereira,Paulo R.V.S.; José R. Salvadori; Marcos Botton; Maurício M. Zenker; Azevedo-Filho,Wilson S.

    2016-01-01

    ABSTRACT This study presents registers of Helicoverpa armigera (Hübner) occurrence to assess its spatial and temporal distribution in Brazil. We used data from collections, especially from the Southern Region, systematic collections in Rio Grande do Sul, occasional collections of caterpillars and adults in different regions of Brazil, as well as literature registers. We conclude that the introduction of H. armigera in Brazil probably occurred before October 2008. We also register that in Augu...

  9. Differential Expression of GNAS and KRAS Mutations in Pancreatic Cysts

    Directory of Open Access Journals (Sweden)

    Linda S Lee

    2014-11-01

    Full Text Available Context KRAS mutations play an important role in pancreatic cancer. GNAS mutations were discovered in intraductal papillary mucinous neoplasms (IPMN. Objectives Our aim was to identify the frequency of KRAS and GNAS mutations in pancreatic cystic neoplasms and pancreatic ductal adenocarcinoma (PDAC. Methods Sixty-eight surgically resected formalin fixed, paraffin embedded pancreatic specimens were analyzed, including: 1 benign [20 serous cystadenoma (SCA], 2 pre-malignant [10 mucinous cystic neoplasm (MCN, 10 branch duct intraductal papillary mucinous neoplasm (BD-IPMN, 9 main duct IPMN (MD-IPMN], 3 malignant [19 PDAC]. Total nucleic acid extraction was performed. KRAS codon 12/13 and GNAS codon 201 mutations were interrogated via targeted sequencing using the Ion Torrent's Personal Genome Machine (PGM. Results Mean age of 68 patients was 61.9± 8.4 with 72% female. KRAS and GNAS mutations were more common in PDAC and IPMN. KRAS mutations predominated in PDAC compared to pancreatic cysts (16/19, 84%versus 10/49, 20%; p0.001. GNAS mutatins were more common in IPMN compared to non-IPMN lesions (8/19, 42% versus 2/49, 4%;p=0.0003. No GNAS mutations were detected in PDAC and MCN while 2 SCA carried GNAS mutations. Double mutations with KRAS and GNAS were only present in IPMN (5/19 versus 0/30 SCA and MCN, p=0.006. Conclusions KRAS and GNAS mutations were more common in PDAC and IPMN with KRAS mutations primarily in PDAC and GNAS mutations more frequent in IPMN. No GNAS mutations occurred in MCN and double mutations were only present in IPMN.

  10. Quidgest internationalization strategic plan to Brazil

    OpenAIRE

    Ramos, Maria do Rosário Pinto de Mesquita Ortigão

    2012-01-01

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

  11. Solidarity Economy Networks: the Case of Brazil

    OpenAIRE

    Castilla-Carrascal, Ivette Tatiana

    2014-01-01

    This article presents reflections (resulting from a Master’s dissertation in sociology) about diversecontributions by the solidarity economy networks in the construction of a solidarity market in Brazil.The first part of the article is a discussion about the different characteristics of the networks in terms ofmore general social theories, such as networks in the field of the solidarity economy. The second partbriefly characterizes the Redes Bodega, acs Amazonia, Rede Ecovida, Central do Cerr...

  12. 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.

  13. PCATool-ADULT-BRAZIL: a reduced version

    Directory of Open Access Journals (Sweden)

    Mônica Maria Celestina de Oliveira

    2013-09-01

    Full Text Available The reorganization of the Brazilian health system brings the need for on-going evaluation of the services offered to the population. The Primary Care Assessment Tool (PCATool-Brazil version for adult users, validated for the Brazilian context, adequately measures the presence and extent of attributes of primary health care (PHC services. A reduced version of this instrument is required to optimize the process of implementation and use of the results in strategic actions. This article aims to present a reduced version of the PCATool-Brazil for adult users and analyze its suitability. The instrument was applied to 2404 adult residents of areas covered by primary health care (PHC units in Porto Alegre, Rio Grande do Sul state. By the two-parameter logistic model of Item Response Theory (ML-2, 23 items that presented discrimination classified as moderate to strong, contemplating the seven attributes of PHC, were selected. As a measure of consistency, the results obtained with this version were compared with the complete version, revealing consistent PHC scores. These findings indicate that the PCATool-Brazil reduced version for adult users presents adequate validity and reliability, and it can be adopted as a rapid assessment tool to evaluate PHC in Brazilian services, permitting decision making guided by evidence in the development of actions to improve the quality of care offered to the population.

  14. 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)

  15. Brazil: Intercultural Experiential Learning Aid.

    Science.gov (United States)

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

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

  16. 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.

  17. 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.

  18. The Mutations Associated with Dilated Cardiomyopathy

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    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.

  19. 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.

  20. Silting mutation in triangulated categories

    CERN Document Server

    Aihara, Takuma

    2010-01-01

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

  1. Kin Selection - Mutation Balance

    DEFF Research Database (Denmark)

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

    2011-01-01

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

  2. Are There Mutator Polymerases?

    Directory of Open Access Journals (Sweden)

    Miguel Garcia-Diaz

    2003-01-01

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

  3. Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.

    Science.gov (United States)

    Scharner, Juergen; Brown, Charlotte A; Bower, Matthew; Iannaccone, Susan T; Khatri, Ismail A; Escolar, Diana; Gordon, Erynn; Felice, Kevin; Crowe, Carol A; Grosmann, Carla; Meriggioli, Matthew N; Asamoah, Alexander; Gordon, Ora; Gnocchi, Viola F; Ellis, Juliet A; Mendell, Jerry R; Zammit, Peter S

    2011-02-01

    Mutations in LMNA cause a variety of diseases affecting striated muscle including autosomal Emery-Dreifuss muscular dystrophy (EDMD), LMNA-associated congenital muscular dystrophy (L-CMD), and limb-girdle muscular dystrophy type 1B (LGMD1B). Here, we describe novel and recurrent LMNA mutations identified in 50 patients from the United States and Canada, which is the first report of the distribution of LMNA mutations from a large cohort outside Europe. This augments the number of LMNA mutations known to cause EDMD by 16.5%, equating to an increase of 5.9% in the total known LMNA mutations. Eight patients presented with either p.R249W/Q or p.E358K mutations and an early onset EDMD phenotype: two mutations recently associated with L-CMD. Importantly, 15 mutations are novel and include eight missense mutations (p.R189P, p.F206L, p.S268P, p.S295P, p.E361K, p.G449D, p.L454P, and p.W467R), three splice site mutations (c.IVS4 + 1G>A, c.IVS6 - 2A>G, and c.IVS8 + 1G>A), one duplication/in frame insertion (p.R190dup), one deletion (p.Q355del), and two silent mutations (p.R119R and p.K270K). Analysis of 4 of our lamin A mutations showed that some caused nuclear deformations and lamin B redistribution in a mutation specific manner. Together, this study significantly augments the number of EDMD patients on the database and describes 15 novel mutations that underlie EDMD, which will contribute to establishing genotype-phenotype correlations.

  4. Imagined futures, present lives

    DEFF Research Database (Denmark)

    Dalsgaard, Anne Line; Wildermuth, Norbert

    2006-01-01

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

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

    Institute of Scientific and Technical Information of China (English)

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

    2004-01-01

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

  6. Lack of noncanonical RAS mutations in cytogenetically normal acute myeloid leukemia.

    Science.gov (United States)

    Reuter, Christoph W M; Krauter, Jürgen; Onono, Fredrick O; Bunke, Tania; Damm, Frederik; Thol, Felicitas; Wagner, Katharina; Göhring, Gudrun; Schlegelberger, Brigitte; Heuser, Michael; Ganser, Arnold; Morgan, Michael A

    2014-06-01

    Transforming mutations in RAS genes are commonly found in human malignancies, including myeloid leukemias. To investigate the incidence, spectrum, and distribution of activating K- and N-RAS mutations in cytogenetically normal acute myeloid leukemia (CN-AML) patients, 204 CN-AML patients were screened. Activating K- and N-RAS mutations were detected in 3 of 204 (1.5 %) and 22 of 204 (10.8 %) CN-AML samples, respectively. RAS mutated patients presented with a lower percentage of bone marrow blasts (65 vs 80 %, P = 0.022). RAS mutations tended to occur with nucleophosmin-1 (NPM1) mutations (P = 0.079), and all three samples containing K-RAS mutations had concomitant NPM1 mutations. There was no significant overlap between K-RAS mutations and N-RAS, FLT3, CEBPA, IDH1/2, WT1 or MLL mutations. RAS mutation status did not impact relapse-free or overall survival of CN-AML patients. In contrast to reports of noncanonical RAS mutations in other cancers, including some leukemia subtypes, we only observed K- and N-RAS mutations in codons 12, 13, or 61 in CN-AML samples. Our findings suggest that while K-RAS mutations are infrequent in CN-AML, activating K-RAS mutations may cooperate with mutated NPM1 to induce leukemia.

  7. 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.

  8. 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.

  9. A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.

    Science.gov (United States)

    Marcon, Gabriella; Di Fede, Giuseppe; Giaccone, Giorgio; Rossi, Giacomina; Giovagnoli, Anna Rita; Maccagnano, Elio; Tagliavini, Fabrizio

    2009-01-01

    Presenilin mutations are the main cause of familial Alzheimer's disease. So far, more than 160 mutations in the Presenilin 1 gene (PSEN1) and approximately 10 mutations in the homologous Presenilin 2 gene (PSEN2) have been identified. Some PSEN1 mutations are associated with a phenotype fulfilling the clinical criteria of frontotemporal dementia. In PSEN2, T122P and M239V mutations presented with severe behavioral disturbances. We describe an Italian patient with a novel PSEN2 mutation (Y231C) who showed behavioral abnormalities and language impairment as presenting symptoms, with later involvement of other cognitive abilities, particularly of posterior functions.

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

    Directory of Open Access Journals (Sweden)

    Rogério Bertani

    2013-03-01

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

  11. 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…

  12. Brazil-U.S. Relations

    Science.gov (United States)

    2010-03-05

    and expanding ties with nontraditional partners, including India and China. Brazil-U.S. cooperation has increased during President Lula’s second...August 21, 2009. 40 Fernanda Odilla, Simone Iglesias & Johanna Nublat, “Brasil vai dobrar efetivo militar no Haiti,” Folha de São Paulo, January 21...defenderá mais regulação no G-20,” O Globo (Brazil), August 6, 2009. 53 Gaurav Singh, “China, India , Brazil Commit to Meet Copenhagen Accord Deadline

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

    Directory of Open Access Journals (Sweden)

    Patrícia Brasil

    1996-04-01

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

  14. 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

  15. Evolutionary Stability Against Multiple Mutations

    CERN Document Server

    Ghatak, Anirban; Shaiju, A J

    2012-01-01

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

  16. Arteriovenous malformation within an isocitrate dehydrogenase 1 mutated anaplastic oligodendroglioma

    Directory of Open Access Journals (Sweden)

    Grace Lai

    2015-01-01

    Full Text Available Background: The co-occurrence of intracranial arteriovenous malformations (AVMs and cerebral neoplasms is exceedingly rare but may harbor implications pertaining to the molecular medicine of brain cancer pathogenesis. Case Description: Here, we present a case of de novo AVM within an isocitrate dehydrogenase 1 mutated anaplastic oligodendroglioma (WHO Grade III and review the potential contribution of this mutation to aberrant angiogenesis as an interesting case study in molecular medicine. Conclusion: The co-occurrence of an IDH1 mutated neoplasm and AVM supports the hypothesis that IDH1 mutations may contribute to aberrant angiogenesis and vascular malformation.

  17. 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.

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

    Science.gov (United States)

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

    2014-09-01

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

  19. Somatic CALR Mutations in Myeloproliferative Neoplasms with Nonmutated JAK2

    Science.gov (United States)

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

    2014-01-01

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

  20. Hyperinflation in Brazil, Israel, and Nicaragua revisited

    Science.gov (United States)

    Szybisz, Martín A.; Szybisz, Leszek

    2017-01-01

    The aim of the present work is to address the description of hyperinflation regimens in economy. The spirals of hyperinflation developed in Brazil, Israel, and Nicaragua are revisited. This new analysis of data indicates that the episodes occurred in Brazil and Nicaragua can be understood within the frame of the model available in the literature, which is based on a nonlinear feedback (NLF) characterized by an exponent β > 0. In the NLF model the accumulated consumer price index carries a finite time singularity of the type 1 /(tc - t) (1 - β) / β determining a critical time tc at which the economy would crash. It is shown that in the case of Brazil the entire episode cannot be described with a unique set of parameters because the time series was strongly affected by a change of policy. This fact gives support to the "so called" Lucas critique, who stated that model's parameters usually change once policy changes. On the other hand, such a model is not able to provide any tc in the case of the weaker hyperinflation occurred in Israel. It is shown that in this case the fit of data yields β → 0. This limit leads to the linear feedback formulation which does not predict any tc. An extension for the NLF model is suggested.

  1. 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.

  2. 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.

  3. Perspectives on bioenergy and biotechnology in Brazil.

    Science.gov (United States)

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

    2005-01-01

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

  4. Updates on the genus Euphorbia (Euphorbiaceae) in Santa Catarina, Brazil

    DEFF Research Database (Denmark)

    Hassemer, Gustavo; Marques Da Silva, Otávio Luis; Funez, Luís Adriano

    2017-01-01

    This contribution presents updates to the knowledge of the species of Euphorbia that occur in Santa Catarina state, southern Brazil. More specifically, we here typify the names E. cyathophora, E. hirtella, E. paranensis and E. stenophylla, and present the first records of E. cyathophora, E. grami...

  5. Tungsten resources of Brazil

    Science.gov (United States)

    White, Max Gregg

    1974-01-01

    Brazilian tungsten production, 85 percent of which is exported, comes almost entirely from scheelite-bearing tactites in northeast Brazil, and has reached an annual rate of about 2,000 metric tons (2,200 short tons) of scheelite concentrate with 70 percent WO3. Scheelite ore reserves, located principally in the State of Rio Grande do Norte, are estimated to be as high as 8,300,000 tons (9,100,000 short tons) containing 0.7 percent WO3. Minor deposits (or those about which only minimal information is available) of wolframite, with which some cassiterite is associated, are located in Sao Paulo, Santa Catarina, and Rio Grande do Sul. Both the scheelite and the wolframite deposits are considered . to be late Precambrian A (620 to 900 m.y.) or early Cambrian in age.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1997-03-01

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

  7. 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.

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

    DEFF Research Database (Denmark)

    Bayat, Allan; Yasmeen, Saiqa; Lund, Allan

    2016-01-01

    We describe the genotypes of the complete cohort, from 1967-2014, 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 the co...

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2007-03-15

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

  10. Caveolin-3 Mutations in Rippling Muscle Disease

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2003-05-01

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

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

    Science.gov (United States)

    Benchimol, J L

    2008-12-01

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

  12. Mutation of Auslander generators

    CERN Document Server

    Lada, Magdalini

    2009-01-01

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

  13. 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.

  14. Urinary Tract Effects of HPSE2 Mutations

    Science.gov (United States)

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

    2015-01-01

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

  15. Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency

    NARCIS (Netherlands)

    Pintao, M.C.; Garcia, A.A.; Borgel, D.; Alhenc-Gelas, M.; Spek, C.A.; de Visser, M.C.H.; Gandrille, S.; Reitsma, P.H.

    2009-01-01

    Hereditary protein S (PS) deficiency is an autosomal disorder caused by mutations in the PS gene (PROS1). Conventional PCR-based mutation detection identifies PROS1 point mutations in approximately 50% of the cases. To verify if gross copy number variations (CNVs) are often present in point mutation

  16. Sex and deleterious mutations.

    Science.gov (United States)

    Gordo, Isabel; Campos, Paulo R A

    2008-05-01

    The evolutionary advantage of sexual reproduction has been considered as one of the most pressing questions in evolutionary biology. While a pluralistic view of the evolution of sex and recombination has been suggested by some, here we take a simpler view and try to quantify the conditions under which sex can evolve given a set of minimal assumptions. Since real populations are finite and also subject to recurrent deleterious mutations, this minimal model should apply generally to all populations. We show that the maximum advantage of recombination occurs for an intermediate value of the deleterious effect of mutations. Furthermore we show that the conditions under which the biggest advantage of sex is achieved are those that produce the fastest fitness decline in the corresponding asexual population and are therefore the conditions for which Muller's ratchet has the strongest effect. We also show that the selective advantage of a modifier of the recombination rate depends on its strength. The quantification of the range of selective effects that favors recombination then leads us to suggest that, if in stressful environments the effect of deleterious mutations is enhanced, a connection between sex and stress could be expected, as it is found in several species.

  17. Radiation induced dynamic mutations and transgenerational effects.

    Science.gov (United States)

    Niwa, Ohtsura

    2006-01-01

    Many studies have confirmed that radiation can induce genomic instability in whole body systems. Although the molecular mechanisms underlying induced genomic instability are not known at present, this interesting phenomenon could be the manifestation of a cellular fail-safe system in which fidelity of repair and replication is down-regulated to tolerate DNA damage. Two features of genomic instability namely, delayed mutation and untargeted mutation, require two mechanisms of ;damage memory' and ;damage sensing, signal transduction and execution' to induce mutations at a non damaged-site. In this report, the phenomenon of transgenerational genomic instability and possible mechanisms are discussed using mouse data collected in our laboratory as the main bases.

  18. 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.

  19. Mutation detection using Surveyor nuclease.

    Science.gov (United States)

    Qiu, Peter; Shandilya, Harini; D'Alessio, James M; O'Connor, Kevin; Durocher, Jeffrey; Gerard, Gary F

    2004-04-01

    We have developed a simple and flexible mutation detection technology for the discovery and mapping of both known and unknown mutations. This technology is based on a new mismatch-specific DNA endonuclease from celery, Surveyor nuclease, which is a member of the CEL nuclease family of plant DNA endonucleases. Surveyor nuclease cleaves with high specificity at the 3' side of any mismatch site in both DNA strands, including all base substitutions and insertion/deletions up to at least 12 nucleotides. Surveyor nuclease technology involves four steps: (i) PCR to amplify target DNA from both mutant and wild-type reference DNA; (ii) hybridization to form heteroduplexes between mutant and wild-type reference DNA; (iii) treatment of annealed DNA with Surveyor nuclease to cleave heteroduplexes; and (iv) analysis of digested DNA products using the detection/separation platform of choice. The technology is highly sensitive, detecting rare mutants present at as low as 1 in 32 copies. Unlabeled Surveyor nuclease digestion products can be analyzed using conventional gel electrophoresis or high-performance liquid chromatography (HPLC), while end labeled digestion products are suitable for analysis by automated gel or capillary electrophoresis. The entire protocol can be performed in less than a day and is suitable for automated and high-throughput procedures.

  20. Septin mutations in human cancers

    Directory of Open Access Journals (Sweden)

    Elias T Spiliotis

    2016-11-01

    Full Text Available Septins are GTP-binding proteins that are evolutionarily and structurally related to the RAS oncogenes. Septin expression levels are altered in many cancers and new advances point to how abnormal septin expression may contribute to the progression of cancer. In contrast to the RAS GTPases, which are frequently mutated and actively promote tumorigenesis, little is known about the occurrence and role of septin mutations in human cancers. Here, we review septin missense mutations that are currently in the Catalog of Somatic Mutations in Cancer (COSMIC database. The majority of septin mutations occur in tumors of the large intestine, skin, endometrium and stomach. Over 25% of the annotated mutations in SEPT2, SEPT4 and SEPT9 belong to large intestine tumors. From all septins, SEPT9 and SEPT14 exhibit the highest mutation frequencies in skin, stomach and large intestine cancers. While septin mutations occur with frequencies lower than 3%, recurring mutations in several invariant and highly conserved amino acids are found across different septin paralogs and tumor types. Interestingly, a significant number of these mutations occur in the GTP-binding pocket and septin dimerization interfaces. Future studies may determine how these somatic mutations affect septin structure and function, whether they contribute to the progression of specific cancers and if they could serve as tumor-specific biomarkers.

  1. Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes.

    Science.gov (United States)

    Chen, Jian-Min; Férec, Claude; Cooper, David N

    2009-10-01

    Data from diverse organisms suggests that transient hypermutability is a general mutational mechanism with the potential to generate multiple synchronous mutations, a phenomenon probably best exemplified by closely spaced multiple mutations (CSMMs). Here we have attempted to extend the concept of transient hypermutability from somatic cells to the germline, using human inherited disease-causing multiple mutations as a model system. Employing stringent criteria for data inclusion, we have retrospectively identified numerous potential examples of pathogenic CSMMs that exhibit marked similarities to the CSMMs reported in other systems. These examples include (1) eight multiple mutations, each comprising three or more components within a sequence tract of mutation showers"; and (3) numerous highly informative "homocoordinate" mutations. Using the proportion of CpG substitution as a crude indicator of the relative likelihood of transient hypermutability, we present evidence to suggest that CSMMs comprising at least one pair of mutations separated by mutation screening.

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

    Science.gov (United States)

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

    2010-08-01

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

  3. 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.

  4. 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.

  5. Founder mutations in BRCA1 and BRCA2 genes.

    Science.gov (United States)

    Ferla, R; Calò, V; Cascio, S; Rinaldi, G; Badalamenti, G; Carreca, I; Surmacz, E; Colucci, G; Bazan, V; Russo, A

    2007-06-01

    BRCA1 and BRCA2 germline mutations contribute to a significant number of familial and hereditary breast and/or ovarian cancers. The proportion of high-risk families with breast and/or ovarian cancer cases due to mutations in these tumor suppressor genes varies widely among populations. In some population, a wide spectrum of different mutations in both genes are present, whereas in other groups specific mutations in BRCA1 and BRCA2 have been reported with high frequency. Most of these mutations are prevalent in restricted populations as consequence of a founder effect. The comparison of haplotypes between families with the same mutation can distinguish whether high-frequency alleles derive from an older or more recent single mutational event or whether they have arisen independently more than once. Here, we review some of the most well-known and significant examples of founder mutations in BRCA genes found in European and non-European populations. In conclusion, the identification of the ethnic group of families undergoing genetic counseling enables the geneticist and oncologist to make more specific choices, leading to simplify the clinical approach to genetic testing carried out on members of high-risk families. Futhermore, the high frequency of founder mutations, allowing to analyze a large number of cases, might provide accurate information regarding their penetrance.

  6. 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.

  7. Development of Biosimilars in Brazil

    Directory of Open Access Journals (Sweden)

    Eduardo Braz Pereira Gomes

    2016-06-01

    Full Text Available This article presents a brief overview of the biosimilar industry in Brazil and in the world. Biosimilars are drugs originating from therapeutic or biological proteins, whose patents are expired or are going to expire. Similarly to the generic pharmaceutical industry, the expiration of patents for biologics allows the emergence of a new segment in the pharmaceutical companies. The advent of biosimilars enables to overcome of several barriers, not limited to regulatory aspects of intellectual property, but also issues related to process and technological expertise. At this level of complexity, the biosimilar manufacturers need to have the same expertise or capabilities compared to originator drug companies or holders of the patents. The importance of biosimilars is due to public health context and high costs of originator biologics. Due to an aging population, the incidence of chronic degenerative disease will increase and will have a major impact in healthcare system, in this way the emergence of biosimilars will result in substantial cost reductions.

  8. 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.

  9. 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.

  10. 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

  11. 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.

  12. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1993-01-01

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

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

    Science.gov (United States)

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

    2012-11-01

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

  15. Socioeconomic and regional differences in active transportation in Brazil

    Directory of Open Access Journals (Sweden)

    Thiago Hérick de Sá

    2016-01-01

    Full Text Available 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

  16. Molecular epidemiology of dengue viruses in Brazil

    Directory of Open Access Journals (Sweden)

    Rita Maria Ribeiro Nogueira

    2000-01-01

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

  17. 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...... 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...... had either germlines or somatic mutations of BRCA1 or BRCA2 genes. The results revealed that the Nmut was significantly lower in the chemotherapy-resistant mBRCA HGSOC defined by progression within 6 months after completion of first line platinum-based chemotherapy. We found a significant association...

  18. 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.

  19. 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.

  20. 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.

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

    Science.gov (United States)

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

    2015-06-01

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

  2. 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.

  3. IN SEARCH OF A TEACHING SOCIOLINGUISTIC PORTUGUESE LANGUAGE IN BRAZIL

    Directory of Open Access Journals (Sweden)

    Talita de Cássia Marine

    2016-06-01

    Full Text Available One of the barriers in teaching Portuguese as mother tongue is the treatment of linguistic variation and fundamentally grammatical knowledge permeated by different linguistic norms. So in this article, we propose some reflections on the current situation of the Portuguese language teaching in Brazil, presenting a literature review on the topic, especially about the concepts of belief and linguistic attitudes studies sociolinguistic and documents the Brazilian government. Still we gather some results of previous studies on language attitudes and beliefs and we quote three factors that show that the Portuguese-speaking education in Brazil is still far from a reflective teaching and culturally sensitive pedagogy. To prove such factors mentioned, we mentioned examples of speeches and activities of students of primary and secondary schools as well as letters of course students. Thus, in this article, we point out how it is still challenging to think of a sociolinguistic conception of Portuguese language teaching in Brazil.

  4. 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.

  5. Corynebacterium ulcerans diphtheria: an emerging zoonosis in Brazil and worldwide.

    Science.gov (United States)

    Dias, Alexandre Alves de Souza de Oliveira; Santos, Louisy Sanchez; Sabbadini, Priscila Soares; Santos, Cíntia Silva; Silva Junior, Feliciano Correa; Napoleão, Fátima; Nagao, Prescilla Emy; Villas-Bôas, Maria Helena Simões; Hirata Junior, Raphael; Guaraldi, Ana Luíza Mattos

    2011-12-01

    The article is a literature review on the emergence of human infections caused by Corynebacterium ulcerans in many countries including Brazil. Articles in Medline/PubMed and SciELO databases published between 1926 and 2011 were reviewed, as well as articles and reports of the Brazilian Ministry of Health. It is presented a fast, cost-effective and easy to perform screening test for the presumptive diagnosis of C. ulcerans and C. diphtheriae infections in most Brazilian public and private laboratories. C. ulcerans spread in many countries and recent isolation of this pathogen in Rio de Janeiro, southeastern Brazil, is a warning to clinicians, veterinarians, and microbiologists on the occurrence of zoonotic diphtheria and C. ulcerans dissemination in urban and rural areas of Brazil and/or Latin America.

  6. [Generic drugs in Brazil: historical overview and legislation].

    Science.gov (United States)

    Araújo, Lorena Ulhôa; Albuquerque, Kemile Toledo de; Kato, Kelly Cristina; Silveira, Gleiciely Santos; Maciel, Náira Rezende; Spósito, Pollyanna Álvaro; Barcellos, Neila Márcia Silva; Souza, Jacqueline de; Bueno, Márcia; Storpirtis, Sílvia

    2010-12-01

    The Brazilian generic drugs policy was implemented in 1999 with the aim of stimulating competition in the market, improve the quality of drugs and improve the access of the population to drug treatment. The process of implementing this policy allowed the introduction and discussion of concepts that had never before been used in the context of drug registration in Brazil: bioavailability, bioequivalence, pharmaceutical equivalence, generic drugs, biopharmaceutical classification system, biowaiver. The present article provides definitions for these concepts in the context of Brazilian legislation as well as a historical and chronological description of the implementation of the generic drugs policy in Brazil, including a list of current generic drug legislation. This article contributes to the understanding of the Brazilian generic drugs policy and facilitates the search for information concerning the legal requirements for registration of drugs in Brazil.

  7. 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.

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

    NARCIS (Netherlands)

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

    2014-01-01

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

  10. Filaggrin mutations and the skin

    Directory of Open Access Journals (Sweden)

    Dipankar De

    2012-01-01

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

  11. Muller's ratchet with compensatory mutations

    CERN Document Server

    Pfaffelhuber, Peter; Wakolbinger, Anton

    2011-01-01

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

  12. Filaggrin mutations and the skin.

    Science.gov (United States)

    De, Dipankar; Handa, Sanjeev

    2012-01-01

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

  13. 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…

  14. 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…

  15. Brazil: Education in an Expanding Economy. Bulletin, 1959, No. 13

    Science.gov (United States)

    Faust, Augustus F.

    1959-01-01

    Studies on education in other countries have long been a responsibility of the Office of Education. This present study is another contribution in the series. It is based on background information acquired by the author during 4 visits totaling 3 years of residence in Brazil, with a 1957 visit to obtain current first-hand data. The purpose of the…

  16. 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...

  17. 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…

  18. 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,

  19. [Women's rights in Brazil: focus on maternal health].

    Science.gov (United States)

    Leite, Ana Cristina da Nóbrega Marinho Torres; Paes, Neir Antunes

    2009-01-01

    Focusing on maternal health care, the article explores the path of women's health rights in Brazil since World War II. It presents a historical survey of broader government initiatives in this arena and of the introduction of actions to provide prenatal, birth, and postpartum care, encourage breastfeeding, and establish measures aimed at women during their reproductive lives.

  20. Lifecycle assessment of fuel ethanol from sugarcane in Brazil

    DEFF Research Database (Denmark)

    Ometto, A. R.; Hauschild, Michael Zwicky; Roma, W. N. L.

    2009-01-01

    This paper presents the lifecycle assessment (LCA) of fuel ethanol, as 100% of the vehicle fuel, from sugarcane in Brazil. The functional unit is 10,000 km run in an urban area by a car with a 1,600-cm(3) engine running on fuel hydrated ethanol, and the resulting reference flow is 1,000 kg of eth...

  1. Paragonimiasis: first case reported in Brazil

    Directory of Open Access Journals (Sweden)

    Antônio Carlos Moreira Lemos

    2007-02-01

    Full Text Available The authors present a case from a 59 years old white female Brazilian patient, based in Salvador-Bahia, Brazil's northeastern side area, who experienced irritative cough and progressive dyspnea, and, after 18 months, was admitted to a hospital with respiratory insufficiency. The physical exam showed diffuse rales in both hemithoraces. Initial leukogram showed 14,400 cells/mL with 14% of eosinophils and chest X-ray showed peribronchovascular infiltrate, predominating in the lower half of the lung fields, and small opaque nodules. The high-resolution computed tomography scan of the chest (HRCT presented compatible pattern with airways disease, especially from the small airways, with air trapping, tree sprouting images, central lobular nodules and bronchiectasis, making the results compatible with bronchiolitis and bronchiectasis. The transbroncho biopsy unveiled granulomatous lesion with necrosis, where was noticed a structure compatible to a parasitic case, and the research of the parasite eggs in the sputum was positive to paragonimus. After the praziquantel use, the patient presented a thick ferruginous expectoration and the result for BAAR examination was positive. The PCR exam and the sputum culture confirmed M. tuberculosis, and then the treatment for M. tuberculosis was initiated. The authors warn that this infection may have been a consequence of economics globalization process, where the importation of parasitized crustaceans might be the cause. However, there is the need of an accurate examination for the possibility of paragonimus specimens in this area of Brazil.

  2. FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature

    DEFF Research Database (Denmark)

    Blomberg, M; Jeppesen, E M; Skovby, F;

    2010-01-01

    Fibroblast growth factor receptor 3 (FGFR3) gene mutations in the germline are well-known causes of skeletal syndromes. Somatic FGFR3 mutations have been found in malignant neoplasms and more recently in several cutaneous elements. We present a 14-year-old girl with mild hypochondroplasia who...... developed acanthosis nigricans. The report of a K650Q mutation in the FGFR3 gene in a similar case prompted us to conduct a point mutation analysis. The K650Q mutation was confirmed, but in contrast to the previous case, we additionally report findings of hyperinsulinemia. In the recent literature......, an increasing number of different cutaneous elements have been found to harbor mutations of FGFR3, suggesting that FGFR3 plays a role in the pathogenesis of these elements. We review the present literature, describing studies in which FGFR3 mutations have been investigated in skin lesions: primarily seborrheic...

  3. 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.

  4. Acquired mutations in ASXL1 in acute myeloid leukemia: prevalence and prognostic value

    OpenAIRE

    2012-01-01

    Somatic mutations in the additional sex comb-like 1 (ASXL1) gene have been described in various types of myeloid malignancies, including acute myeloid leukemia. Analysis of novel markers, such as ASXL1 mutations, in independent clinical trials is indispensable before considering them for clinical decision-making. We analyzed 882 well-characterized acute myeloid leukemia cases to determine the prevalence and prognostic impact of ASXL1 exon12 mutations. Truncating ASXL1 mutations were present i...

  5. Bone Mineral Density in Postmenopausal Women Heterozygous for the C282Y HFE Mutation

    OpenAIRE

    2016-01-01

    Mutations in the HFE gene may be associated with increased tissue iron stores reflected in an elevated serum ferritin. With homozygous mutation C282Y, the increase in serum ferritin may be associated with tissue damage in the liver, pancreas, and pituitary and with a reduced bone mineral density. With heterozygous mutation C282Y, the degree of iron retention is less but information relating to how a heterozygous C282Y mutation might impact bone mineral density is uncertain. The present study ...

  6. Brazil: Mitigation and Adaptation to Climate Change

    OpenAIRE

    Carlos E. Ludeña; Maria Netto

    2011-01-01

    In order to understand the implications of GHG emissions reduction targets in the Brazilian economy it is important to understand the sector composition of these emissions in Brazil. According to the 2010 Second National Communications of Brazil to the UNFCCC, in 2005, the majority of Brazil's emissions (87.2%) corresponded to carbon dioxide (CO2) emissions.

  7. 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.

  8. Beta-thalassaemia mutations in northern India (Delhi).

    Science.gov (United States)

    Madan, N; Sharma, S; Rusia, U; Sen, S; Sood, S K

    1998-03-01

    The present study was undertaken to define beta-thalassaemia mutations prevalent in northern India (Delhi). Forty six children of beta-thalassaemia major and their families were investigated. DNA was extracted from leucocytes and screened for mutations prevalent in the Indian population. These mutations included 619bp deletion, IVS 1-1 (G-T), IVS 1-5 (G-C), frameshift mutations FS 8/9 (+G), FS 41/42 (-CTTT), Codon 16(-C), Codon 15 (G-A), codon 30 (G-C), IVS 1-110 (G-A) and -88 (C-T). 619 bp deletion mutation was detected directly by amplification of DNA by PCR followed by agarose gel electrophoresis. Other mutations were studied by DNA amplification and dot blot hybridization using synthetic normal and mutant oligonucleotide probes labelled at 5' end with gamma-32 P-ATP. Five mutations accounted for all the chromosomes in 46 patients. 619 bp deletion mutation was found to be the commonest mutation (34.8%) followed by IVS 1-5 (G-C) in 22.8 per cent, IVS 1-1 (G-T) in 19.6 per cent, FS 8/9 (+G) in 13 per cent and FS 41/42 (-CTTT) in 9.8 per cent. Nineteen (41.3%) patients were homozygous and 27 (58.7%) double heterozygous for different beta-thalassaemia mutations. This observation of limited number of mutations is significant and will be useful in planning strategies for prenatal diagnosis of beta-thalassaemia in northern India.

  9. RBFOX1 and RBFOX3 mutations in rolandic epilepsy

    DEFF Research Database (Denmark)

    Lal, Dennis; Reinthaler, Eva M; Altmüller, Janine

    2013-01-01

    mutation (p.A233Vfs*74) and a hexanucleotide deletion (p.A299_A300del), and a novel nonsense mutation in RBFOX3 (p.Y287*). Although the three variants were inherited from unaffected parents, they were present in all family members exhibiting the RE trait clinically or electroencephalographically with only...... one exception. In contrast, no deleterious mutations of RBFOX1 and RBFOX3 were found in the exomes of 6503 non-RE subjects deposited in the Exome Variant Server database. The observed RBFOX3 exon 3 deletion and nonsense mutation suggest that RBFOX3 represents a novel risk factor for RE, indicating...... that exon deletions and truncating mutations of RBFOX1 and RBFOX3 contribute to the genetic variance of partial and generalized idiopathic epilepsy syndromes....

  10. 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...

  11. 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

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

    Science.gov (United States)

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

    2008-12-01

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

  13. Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p

    Science.gov (United States)

    Paskulin, Diego Davila; Giacomazzi, Juliana; Achatz, Maria Isabel; Costa, Sandra; Reis, Rui Manoel; Hainaut, Pierre; dos Santos, Sidney Emanuel Batista; Ashton-Prolla, Patricia

    2015-01-01

    Rare germline mutations in TP53 (17p13.1) cause a highly penetrant predisposition to a specific spectrum of early cancers, defining the Li-Fraumeni Syndrome (LFS). A germline mutation at codon 337 (p.Arg337His, c1010G>A) is found in about 0.3% of the population of Southern Brazil. This mutation is associated with partially penetrant LFS traits and is found in the germline of patients with early cancers of the LFS spectrum unselected for familial history. To characterize the extended haplotypes carrying the mutation, we have genotyped 9 short tandem repeats on chromosome 17p in 12 trios of Brazilian p.Arg337His carriers. Results confirm that all share a common ancestor haplotype of Caucasian/Portuguese-Iberic origin, distant in about 72–84 generations (2000 years assuming a 25 years intergenerational distance) and thus pre-dating European migration to Brazil. So far, the founder p.Arg337His haplotype has not been detected outside Brazil, with the exception of two residents of Portugal, one of them of Brazilian origin. On the other hand, increased meiotic recombination in p.Arg337His carriers may account for higher than expected haplotype diversity. Further studies comparing haplotypes in populations of Brazil and of other areas of Portuguese migration are needed to understand the historical context of this mutation in Brazil. PMID:26618902

  14. 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.

  15. 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.

  16. Zika virus outbreak in Brazil.

    Science.gov (United States)

    Heukelbach, Jorg; Alencar, Carlos Henrique; Kelvin, Alyson Ann; de Oliveira, Wanderson Kleber; Pamplona de Góes Cavalcanti, Luciano

    2016-02-28

    Zika virus (ZIKV) infection is spreading rapidly within the Americas after originating from an outbreak in Brazil. We describe the current ZIKV infection epidemic in Brazil and the neurological symptoms arising. First cases of an acute exanthematic disease were reported in Brazil's Northeast region at the end of 2014. In March 2015, autochthonous ZIKV was determined to be the causative agent of the exanthematic disease. As cases of neurological syndromes in regions where ZIKV, dengue and/or Chikungunya viruses co-circulate were reported, ZIKV was also identified in the cerebrospinal fluid of patients with acute neurological syndromes and previous exanthematic disease. By the end of September 2015, an increasing number of infants with small head circumference or microcephaly were noted in Brazil's Northeast which was estimated to be 29 cases between August and October. ZIKV was identified in blood and tissue samples of a newborn and in mothers who had given birth to infants with microcephaly and ophthalmological anomalies. In 2015, there were an estimated 440,000 - 1,300,000 Zika cases in Brazil. There have been 4,783 suspected cases of microcephaly, most of them in the Northeast of Brazil associated with 76 deaths. The Ministry of Health is intensifying control measures against the mosquito Aedes aegypti and implemented intensive surveillance actions. Further studies are needed to confirm the suspected association between ZIKV infection and microcephaly; to identify antiviral, immunotherapy, or prophylactic vaccine; to introduce diagnostic ELISA testing. Clinical and epidemiological studies must be performed to describe viral dynamics and expansion of the outbreak.

  17. 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.

  18. Insulin gene mutations as a cause of permanent neonatal diabetes.

    Science.gov (United States)

    Støy, Julie; Edghill, Emma L; Flanagan, Sarah E; Ye, Honggang; Paz, Veronica P; Pluzhnikov, Anna; Below, Jennifer E; Hayes, M Geoffrey; Cox, Nancy J; Lipkind, Gregory M; Lipton, Rebecca B; Greeley, Siri Atma W; Patch, Ann-Marie; Ellard, Sian; Steiner, Donald F; Hattersley, Andrew T; Philipson, Louis H; Bell, Graeme I

    2007-09-18

    We report 10 heterozygous mutations in the human insulin gene in 16 probands with neonatal diabetes. A combination of linkage and a candidate gene approach in a family with four diabetic members led to the identification of the initial INS gene mutation. The mutations are inherited in an autosomal dominant manner in this and two other small families whereas the mutations in the other 13 patients are de novo. Diabetes presented in probands at a median age of 9 weeks, usually with diabetic ketoacidosis or marked hyperglycemia, was not associated with beta cell autoantibodies, and was treated from diagnosis with insulin. The mutations are in critical regions of the preproinsulin molecule, and we predict that they prevent normal folding and progression of proinsulin in the insulin secretory pathway. The abnormally folded proinsulin molecule may induce the unfolded protein response and undergo degradation in the endoplasmic reticulum, leading to severe endoplasmic reticulum stress and potentially beta cell death by apoptosis. This process has been described in both the Akita and Munich mouse models that have dominant-acting missense mutations in the Ins2 gene, leading to loss of beta cell function and mass. One of the human mutations we report here is identical to that in the Akita mouse. The identification of insulin mutations as a cause of neonatal diabetes will facilitate the diagnosis and possibly, in time, treatment of this disorder.

  19. Polymorphic Mutation Frequencies of Clinical and Environmental Stenotrophomonas maltophilia Populations▿

    Science.gov (United States)

    Turrientes, María Carmen; Baquero, María Rosario; Sánchez, María Blanca; Valdezate, Sylvia; Escudero, Esther; Berg, Gabrielle; Cantón, Rafael; Baquero, Fernando; Galán, Juan Carlos; Martínez, José Luis

    2010-01-01

    Mutation frequencies were studied in 174 Stenotrophomonas maltophilia isolates from clinical and nonclinical environments by detecting spontaneous rifampin-resistant mutants in otherwise-susceptible populations. The distribution of mutation frequencies followed a pattern similar to that found for other bacterial species, with a modal value of 1 × 10−8. Nevertheless, the proportion of isolates showing mutation frequencies below the modal value (hypomutators) was significantly higher for S. maltophilia than those so far reported in other organisms. Low mutation frequencies were particularly frequent among environmental S. maltophilia strains (58.3%), whereas strong mutators were found only among isolates with a clinical origin. These results indicate that clinical environments might select bacterial populations with high mutation frequencies, likely by second-order selection processes. In several of the strong-mutator isolates, functional-complementation assays with a wild-type allele of the mutS gene demonstrated that the mutator phenotype was due to the impairment of MutS activity. In silico analysis of the amino acid changes present in the MutS proteins of these hypermutator strains in comparison with the normomutator isolates suggests that the cause of the defect in MutS might be a H683P amino acid change. PMID:20097818

  20. An ancient founder mutation in PROKR2 impairs human reproduction.

    Science.gov (United States)

    Avbelj Stefanija, Magdalena; Jeanpierre, Marc; Sykiotis, Gerasimos P; Young, Jacques; Quinton, Richard; Abreu, Ana Paula; Plummer, Lacey; Au, Margaret G; Balasubramanian, Ravikumar; Dwyer, Andrew A; Florez, Jose C; Cheetham, Timothy; Pearce, Simon H; Purushothaman, Radhika; Schinzel, Albert; Pugeat, Michel; Jacobson-Dickman, Elka E; Ten, Svetlana; Latronico, Ana Claudia; Gusella, James F; Dode, Catherine; Crowley, William F; Pitteloud, Nelly

    2012-10-01

    Congenital gonadotropin-releasing hormone (GnRH) deficiency manifests as absent or incomplete sexual maturation and infertility. Although the disease exhibits marked locus and allelic heterogeneity, with the causal mutations being both rare and private, one causal mutation in the prokineticin receptor, PROKR2 L173R, appears unusually prevalent among GnRH-deficient patients of diverse geographic and ethnic origins. To track the genetic ancestry of PROKR2 L173R, haplotype mapping was performed in 22 unrelated patients with GnRH deficiency carrying L173R and their 30 first-degree relatives. The mutation's age was estimated using a haplotype-decay model. Thirteen subjects were informative and in all of them the mutation was present on the same ~123 kb haplotype whose population frequency is ≤10%. Thus, PROKR2 L173R represents a founder mutation whose age is estimated at approximately 9000 years. Inheritance of PROKR2 L173R-associated GnRH deficiency was complex with highly variable penetrance among carriers, influenced by additional mutations in the other PROKR2 allele (recessive inheritance) or another gene (digenicity). The paradoxical identification of an ancient founder mutation that impairs reproduction has intriguing implications for the inheritance mechanisms of PROKR2 L173R-associated GnRH deficiency and for the relevant processes of evolutionary selection, including potential selective advantages of mutation carriers in genes affecting reproduction.

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

    Institute of Scientific and Technical Information of China (English)

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

    2008-01-01

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

  2. The Wilson disease gene: Haplotypes and mutations

    Energy Technology Data Exchange (ETDEWEB)

    Thomas, G.R.; Roberts, E.A.; Cox, D.W. [Hospital for Sick Children, Toronto (Canada); Walshe, J.M. [Middlesex Hospital, London (United Kingdom)

    1994-09-01

    Wilson disease (WND) is an autosomal recessive defect of copper transport. The gene involved in WND, located on chromosome 13, has recently been shown to be a putative copper transporting P-type ATPase, designated ATP7B. The gene is highly similar to ATP7A, located on the X chromosome, which is defective in Menkes disease, another disorder of copper transport. We have available for study WND families from Canada (34 families), the United Kingdom (32 families), Japan (4 families), Iceland (3 families) and Hong Kong (2 families). We have utilized four highly polymorphic CA repeat markers (D13S296, D13S301, D13S314 and D13S316) surrounding the ATP7B locus to construct haplotypes in these families. Analysis indicates that there are many unique WND haplotypes not present on normal chromosomes and that there may be a large number of different WND mutations. We have screened the WND patients for mutations in the ATP7B gene. Fifty six patients, representing all of the identified haplotypes, have been screened using single strand conformational polymorphism (SSCP), followed by selective sequencing. To date, 19 mutations and 12 polymorphisms have been identified. All of the changes are nucleotide substitutions or small insertions/deletions and there is no evidence for larger deletions as seen in the similar gene on the X chromosome, ATP7A. Haplotypes of close markers and the ability to detect some of the mutations present in the gene allow for more reliable molecular diagnosis of presymptomatic sibs of WND patients. A reassessment of individuals previously diagnosed in the presymptomatic phase is now required, as we have have identified some heterozygotes who are biochemically indistinguishable from affected homozygotes. The identification of specific mutations will soon allow direct diagnosis of WND patients with a high level of certainty.

  3. Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.

    Science.gov (United States)

    Lesage, Suzanne; Patin, Etienne; Condroyer, Christel; Leutenegger, Anne-Louise; Lohmann, Ebba; Giladi, Nir; Bar-Shira, Anat; Belarbi, Soraya; Hecham, Nassima; Pollak, Pierre; Ouvrard-Hernandez, Anne-Marie; Bardien, Soraya; Carr, Jonathan; Benhassine, Traki; Tomiyama, Hiroyuki; Pirkevi, Caroline; Hamadouche, Tarik; Cazeneuve, Cécile; Basak, A Nazli; Hattori, Nobutaka; Dürr, Alexandra; Tazir, Meriem; Orr-Urtreger, Avi; Quintana-Murci, Lluis; Brice, Alexis

    2010-05-15

    Mutations in the leucine-rich-repeat kinase 2 (LRRK2) gene have been identified in families with autosomal dominant Parkinson's disease (PD) and in sporadic cases; the G2019S mutation is the single most frequent. Intriguingly, the frequency of this mutation in PD patients varies greatly among ethnic groups and geographic origins: it is present at Jewish origin, mostly from Eastern Europe, one was from Japan, one from Turkey and two were of mixed origins. We found the G2019S mutation on three different haplotypes. Network analyses of the three carrier haplotypes showed that G2019S arose independently at least twice in humans. In addition, the population distribution of the intra-allelic diversity of the most widespread carrier haplotype, together with estimations of the age of G2019S determined by two different methods, suggests that one of the founding G2019S mutational events occurred in the Near East at least 4000 years ago.

  4. Co-inheritance of novel ATRX gene mutation and globin (α & β) gene mutations in transfusion dependent beta-thalassemia patients.

    Science.gov (United States)

    Al-Nafie, Awatif N; Borgio, J Francis; AbdulAzeez, Sayed; Al-Suliman, Ahmed M; Qaw, Fuad S; Naserullah, Zaki A; Al-Jarrash, Sana; Al-Madan, Mohammed S; Al-Ali, Rudaynah A; AlKhalifah, Mohammed A; Al-Muhanna, Fahad; Steinberg, Martin H; Al-Ali, Amein K

    2015-06-01

    α-Thalassemia X-linked mental retardation syndrome is a rare inherited intellectual disability disorder due to mutations in the ATRX gene. In our previous study of the prevalence of β-thalassemia mutations in the Eastern Province of Saudi Arabia, we confirmed the widespread coinheritance of α-thalassemia mutation. Some of these subjects have a family history of mental retardation, the cause of which is unknown. Therefore, we investigated the presence or absence of mutations in the ATRX gene in these patients. Three exons of the ATRX gene and their flanking regions were directly sequenced. Only four female transfusion dependent β-thalassemia patients were found to be carriers of a novel mutation in the ATRX gene. Two of the ATRX gene mutations, c.623delA and c.848T>C were present in patients homozygous for IVS I-5(G→C) and homozygous for Cd39(C → T) β-thalassemia mutation, respectively. While the other two that were located in the intronic region (flanking regions), were present in patients homozygous for Cd39(C → T) β-thalassemia mutation. The two subjects with the mutations in the coding region had family members with mental retardation, which suggests that the novel frame shift mutation and the missense mutation at coding region of ATRX gene are involved in ATRX syndrome.

  5. Neurofibromatosis presenting with a cherubism phenotype.

    NARCIS (Netherlands)

    Capelle, C.I. van; Hogeman, P.H.; Sijs-Bos, C.J.M. van der; Heggelman, B.G.; Idowu, B.; Slootweg, P.J.; Wittkampf, A.R.M.; Flanagan, A.M.

    2007-01-01

    We report on a child who presented clinical manifestations of both neurofibromatosis type 1 (NF1) and cherubism. With genetic testing, we found a mutation in the NF-1 gene, confirming the neurocutaneous disorder. Histology when correlated with radiological evaluation of a mandibular biopsy was consi

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

    Science.gov (United States)

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

    2012-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Mariana A Martina

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

  8. Distintas formas de presentación clínica de un raquitismo hipofosfatémico autosómico dominante por mutación del factor de crecimiento fibroblástico 23 en una familia Different forms of clinical presentation of an autosomal dominant hypophosphatemic rickets caused by a FGF 23 mutation in one family

    Directory of Open Access Journals (Sweden)

    Armando Luis Negri

    2004-04-01

    1: a 60 year old female who consulted for bone pain. Bone densitometry showed osteoporosis. Laboratory assays showed hypophosphatemia with low renal phosphate threshold, high total alkaline phosphatase, normal intact PTH and normal serum calcium. With neutral phosphate and calcitriol, the biochemical parameters normalized and bone densitometry improved significantly in less than a year. Patient N° 2: her grand daughter consulted at 1 year and 8 months of age for growth retardation (height at percentile 3 and genu varum. Laboratory assays showed low serum phosphate and high total alkaline phosphatase; thickening and irregular epiphyseal borders of the wrists were observed radiologically. She began treatment with calcitriol and phosphorus with normalization of laboratory parameters and increase in growth (height increasing to percentile 50 after 20 months of therapy. Patient N° 3: mother of patient N° 2, she had no clinical manifestations and normal densitometry but presented low serum phosphate (1.9 mg/dl that normalized with neutral phosphate therapy. Patient N° 4: he was the youngest son of Patient N° 1, who had had hypophosphatemic rickets, by age 5; his serum phosphate normalized without treatment. At age 29, he presented normal serum phosphate and bone densitometry. Genomic DNA analysis performed in patient N° 3, showed missense mutation with substitution of arginine at position 179 for glutamine. The family was catalogued as having autosomal dominant hypophosphatemic rickets/osteomalacia.

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

    Directory of Open Access Journals (Sweden)

    Toshihiko Kishimoto

    2015-07-01

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

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

    Science.gov (United States)

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

    2015-07-01

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

  11. 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...

  12. 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

  13. The Frequency and clinical significance of IDH1 mutations in Chinese acute myeloid leukemia patients.

    Directory of Open Access Journals (Sweden)

    Lixun Guan

    Full Text Available OBJECTIVE: Mutations in the gene encoding isocitrate dehydrogenease 1 (IDH1 occur in various hematopoietic tumors including acute myeloid leukemia (AML, myeloproliferative neoplasms and myelodysplastic syndromes. IDH1 mutations are significant in both diagnosis and prognosis of these conditions. In the present study we determined the prevalence and clinical significance of IDH1 mutations in 349 samples from newly diagnosed AML patients. RESULTS: Of the 349 AML patient specimens analyzed, 35 (10.03% were found to have IDH1 mutations including 4 IDH1 R132 mutations and 31 non-R132 mutations. IDH1 non-R132 mutations were largely concentrated within AML-M1 (35.72%, pA, p.R100Q; (2 c.311G>T, p.G104V; (3 c.322T>C, p.F108L; (4 c.356G>A, p.R119Q; and (5 c.388A>G, p.I130V. In addition, we identified three IDH1 mutations that were previously described in AML. The frequency of IDH1 mutations in AML patients with normal karyotype was 9.9%. IDH1 non-R132 mutations were concurrent with mutations in FLT3-ITD (p<0.01, CEBPA (p<0.01, and NRAS (p<0.01, as well as the overexpression of MN1 (p<0.01 and WT1(p<0.01. The overall survival (OS in the patients with IDH1 non-R132 mutations compared to patients without IDH1 mutations don't reach statistically significance (median 521 days vs median: not reached; n.s.. CONCLUSION: IDH1 non-R132 mutations occurred frequently in newly diagnosed adult Chinese AML patients, and these mutations were associated with genetic alterations. The OS was not influenced by IDH1 non-R132 mutations in the present study.

  14. Evaluating School Facilities in Brazil

    Science.gov (United States)

    Ornstein, Sheila Walbe; Moreira, Nanci Saraiva

    2008-01-01

    Brazil's Sao Paulo Metropolitan Region is conducting a performance evaluation pilot study at three schools serving disadvantaged populations. The objective is first to test methods which can facilitate Post Occupancy Evaluations (POEs) and then to carry out the evaluations. The preliminary results are provided below.

  15. [Nuptiality among Brazil's black population].

    Science.gov (United States)

    Berquo, E

    1987-08-01

    Data from a three percent sample of the 1980 census of Brazil are used to analyze nuptiality trends by ethnic group. The focus is on the homogamy of marriage by color and age and on the marriage patterns of the black population.

  16. Brazil and CERN get closer

    CERN Multimedia

    2002-01-01

    The map of countries affiliated to CERN may in future include Brazil. On a visit to CERN last week, the Brazilian Minister of State for Science and Technology, Ronaldo Mota Sardenberg, expressed his country's interest in closer links to the Laboratory.   Luciano Maiani and the Brazilian Minister of State for Science and Technology Ronaldo Mota Sardenberg shake hands on CERN-Brazil co-operation. During his visit, the Minister and CERN Director General Luciano Maiani issued a joint statement for the continuation of a Co-operation Agreement first established in 1990. They also agreed to study the possibility of Brazil joining CERN-led Grid computing infrastructure projects. Brazilian physicists are already involved in the LHCb, ATLAS and CMS experiments. At the conclusion of the Minister's visit, he and Director-General Maiani agreed to establish a Working Group to examine ways of strengthening Brazil's links with CERN, and to prepare the way for a Brazilian request to CERN Council to become an Observer at th...

  17. Brazils Rise to Global Power

    Science.gov (United States)

    2014-06-01

    Família, Real Plan, BRIC , Export Oriented Growth, Import Substitution Industrialization, South-South cooperation. 15. NUMBER OF PAGES 113 16...61 F. CAPABILITIES COMPARED TO BRIC ..................................................62 1. India...Desenvolvimento Econômico e Social BRIC Brazil, Russia, India, China EU European Union FTA Free Trade Agreement G8 Group of Eight G20 Group of Twenty GNP

  18. A historical perspective on malaria control in Brazil.

    Science.gov (United States)

    Griffing, Sean Michael; Tauil, Pedro Luiz; Udhayakumar, Venkatachalam; Silva-Flannery, Luciana

    2015-09-01

    Malaria has always been an important public health problem in Brazil. The early history of Brazilian malaria and its control was powered by colonisation by Europeans and the forced relocation of Africans as slaves. Internal migration brought malaria to many regions in Brazil where, given suitable Anopheles mosquito vectors, it thrived. Almost from the start, officials recognised the problem malaria presented to economic development, but early control efforts were hampered by still developing public health control and ignorance of the underlying biology and ecology of malaria. Multiple regional and national malaria control efforts have been attempted with varying success. At present, the Amazon Basin accounts for 99% of Brazil's reported malaria cases with regional increases in incidence often associated with large scale public works or migration. Here, we provide an exhaustive summary of primary literature in English, Spanish and Portuguese regarding Brazilian malaria control. Our goal was not to interpret the history of Brazilian malaria control from a particular political or theoretical perspective, but rather to provide a straightforward, chronological narrative of the events that have transpired in Brazil over the past 200 years and identify common themes.

  19. Long QT syndrome mutation detection by SNaPshot technique.

    Science.gov (United States)

    Edelmann, Jeanett; Schumann, Stefanie; Nastainczyk, Marina; Husser-Bollmann, Daniela; Lessig, Rüdiger

    2012-11-01

    Long QT syndrome (LQTS) is a cardiac disorder with an abnormality of cardiac rhythm associated with sudden death especially in younger, apparently healthy individuals. If there is no clear cause of death detectable during comprehensive coroner's inquest (autopsy-negative cases), you have to consider LQTS and other heritable arrhythmia syndromes. A molecular genetic screening regarding mutations in associated genes can help to ensure the cause of death and to protect affected family members. Genetic testing of LQTS, currently performed mainly by sequencing, is still very expensive and time consuming. With this study we present a rapid and reasonable method for the simultaneously screening of some of the most common mutations associated with LQTS, focused on the KCNQ1 and KCNH2 genes. With the method of SNaPshot minisequencing, a total of 58 mutations were analyzed in four multiplex assays which were successfully established and optimized. The comparison with samples previously analyzed by direct sequencing showed concordance. Furthermore, autopsy-negative cases were tested but no mutations could be observed in any of the specimen. The presented method is well suitable for LQTS mutation screening. An enhancement to further mutations and population-based investigations regarding mutation frequencies should be the aim of prospective studies.

  20. Diagnostic and prognostic value of IDH1 mutation in gliomas

    Directory of Open Access Journals (Sweden)

    YANG Yan-wu

    2012-12-01

    Full Text Available Objective To discuss the significance of IDH1 mutation for diagnosis and prognosis of gliomas through detecting of IDH1 mutation in supratentorial glioma cells. Methods IDH1 genes of postoperative pathological samples obtained from 315 patients with supratentorial gliomas (3 cases of WHO Ⅰ, 95 cases of WHO Ⅱ, 37 cases of WHO Ⅲ and 180 cases of WHO Ⅳ were collected for DNA extraction, on which PCR amplification and direct sequencing were done. At the same time, multiple-factor analysis was used on those patients' age, sex, tumor location, excision extension, Karnofsky Performance Status (KPS and progression-free survival time or median survival time, to investigate the influence of IDH1 mutation on the prognosis of patients. Results A total of 112 gene mutations among 315 cases (35.56% were found and they were all R132H type of mutations. Mutation rates in WHOⅡ, Ⅲ and Ⅳ gliomas were 72.63% (69/95, 24.32% (9/37 and 18.89% (34/180 respectively, which were significantly different (P = 0.000, for all. Among patients with IDH1 mutations in WHOⅣ gliomas, there were 18 cases of primary glioblastoma and 16 cases of secondary glioblastoma, the mutation rates of which were 11.39% (18/158 and 72.73% (16/22, respectively. The latter was much higher than the former and the difference was statistically significant ( χ 2 = 23.654,P = 0.001. Survival analysis revealed that IDH1 mutation presented notable effect on the prognosis of patients with gliomas. Conclusion IDH1 mutation can happen in WHO Ⅱ, Ⅲ and Ⅳ gliomas, and the mutation rates of WHOⅡ gliomas and secondary glioblastomas of WHO Ⅳ are higher than others. The survival time of patients are remarkably influenced by IDH1 mutation, and the prognosis of patient with IDH1 mutation is good, which may suggest that IDH1 mutation is an important diagnostic and prognostic biomarker in different grades of gliomas.

  1. Genetic mutations in Gorlin-Goltz syndrome

    Directory of Open Access Journals (Sweden)

    Muthumula Daneswari

    2013-01-01

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

  2. Genetic mutations in Gorlin-Goltz syndrome.

    Science.gov (United States)

    Daneswari, Muthumula; Reddy, Mutjumula Swamy Ranga

    2013-07-01

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

  3. Molecular profiling, including TERT promoter mutations, of acral lentiginous melanomas.

    Science.gov (United States)

    Vazquez, Vinicius de Lima; Vicente, Anna L; Carloni, Adriana; Berardinelli, Gustavo; Soares, Paula; Scapulatempo, Cristovam; Martinho, Olga; Reis, Rui M

    2016-04-01

    Acral lentiginous melanoma (ALM) is the less common subtype with singular characterization. TERT (human telomerase reverse transcriptase) promoter mutations have being described as recurrent in melanomas and infrequent in ALM, but their real incidence and clinical relevance is unclear. The objectives of this study were to describe the prevalence of TERT promoter mutations in ALM, and correlate with the molecular profile of other drive genes and clinical features. Sixty-one samples from 48 patients with ALM were analyzed. After DNA isolation, the mutation profiles of the hotspot region of BRAF, NRAS, KIT, PDGFRA, and TERT genes were determined by PCR amplification followed by direct Sanger sequencing. KIT, PDGFRA, and VEGFR2 gene amplification was performed by quantitative PCR. Clinical information such as survival, clinical stage, and Breslow tumor classification were obtained from medical records. TERT promoter mutations were found in 9.3% of the cases, BRAF in 10.3%, NRAS in 7.5%, KIT in 20.7%, and PDGFRA in 14.8% of ALM. None of the cases showed KIT, PDGFRA, or VEGFR2 gene amplification. We found an association between KIT mutations and advanced Clark level (IV and V, P=0.043) and TERT promoter mutations with low mitotic index. No other significant associations were observed between mutation profile and patients' clinical features nor survival rates. Oncogenic TERT promoter mutations are present in a fraction of ALMs. No relevant associations were found between TERT mutation status and clinical/molecular features nor survival. Mutations of KIT and PDGFRA are the most common genetic alterations, and they can be therapeutic targets for these patients.

  4. Reverse mutation in fragile X syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Antinolo, G.; Borrego, S.; Cabeza, J.C. [Hospital Universitario, Sevilla (Spain)] [and others

    1996-01-01

    The fragile X syndrome is the most common cause of familial mental retardation, with an incidence of {approximately}1/1,500 in males and 1/2,500 in females. The clinical expression includes moderate to severe mental retardation, macroorchidism, dysmorphic facial features and behavior disturbances. In 1991, the FMR-1 gene was isolated from the region of the fragile X site. The fragile X phenotype has been found, in most cases, to be characterized at the molecular level by expansion of a (CGG){sub n} repeat and hypermethylation of a CpG island identified in the 5{prime}-UTR of the FMR-1 gene. It has been proposed, and some evidence has been shown, that germ cells carry only premutation alleles and that expansion occurs at a postzygotic stage. A few cases of reduction of the (CGG){sub n} repeat in fragile X syndrome have been reported. These reductions were from a larger premutation to a smaller premutation, in female-to-male transmission, from full mutation to a mosaic pattern, reduction from mosaic full-mutation/premutation females or regression from premutation to normal. We present here the novel observation of a phenotypically normal female carrying a nonmosaic full-mutation allele in somatic cells who transmits a premutation allele to her daughter. This daughter has three mosaic offspring with the full mutation and the premutation. Two of them are monozygotic (MZ) twins sharing a concordant mutation pattern. They are monoamniotic monochorionic, which indicates a late form of twinning. 20 refs., 1 fig.

  5. 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.

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

    Science.gov (United States)

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

    2011-02-14

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

  7. A cognitive chameleon: lessons from a novel MAPT mutation case.

    Science.gov (United States)

    Liang, Yuying; Gordon, Elizabeth; Rohrer, Jonathan; Downey, Laura; de Silva, Rohan; Jäger, Hans Rolf; Nicholas, Jennifer; Modat, Marc; Cardoso, M Jorge; Mahoney, Colin; Warren, Jason; Rossor, Martin; Fox, Nick; Caine, Diana

    2014-01-01

    We report a case of frontotemporal dementia caused by a novel MAPT mutation (Q351R) with a remarkably long amnestic presentation mimicking familial Alzheimer's disease. Longitudinal clinical, neuropsychological and imaging data provide convergent evidence for predominantly bilateral anterior medial temporal lobe involvement consistent with previously established neuroanatomical signatures of MAPT mutations. This case supports the notion that the neural network affected in MAPT mutations is determined to a large extent by the underlying molecular pathology. We discuss the diagnostic significance of anomia in the context of atypical amnesia and the impact of impaired episodic and semantic memory systems on autobiographical memory.

  8. Image of Brazil: similarities and differences in the assessment in ten countries

    Directory of Open Access Journals (Sweden)

    Eber Celoto Souza

    2014-08-01

    Full Text Available This article seeks to understand how foreigners make their image about Brazil and investigates similarities and differences in this assessment. The paper presents the results of a survey of 4373 respondents of ten countries. The authors performed a factor analysis to identify the dimensions and assessment of each country followed by a discriminant analysis. The results indicate that Brazil has a slightly positive image in the sample studied. The affection dimension has the best evaluation, while the communication dimension is the worst, and eight statements have the highest discrimination on the image of Brazil.

  9. [Preserving the cultural heritage of health in Brazil: an emerging question].

    Science.gov (United States)

    Serres, Juliane Conceição Primon

    2015-12-01

    In a discussion that applies the category "heritage" to goods within the realm of health, the article problematizes the recent recognition and incipient protection of the cultural heritage of health in Brazil. It presents a roster of assets that receive federal protection through Brazil's Instituto do Patrimônio Histórico e Artístico Nacional (IPHAN), including hospitals and health-related buildings as well as inventories conducted in a number of state capitals by the Brazilian Network for Cultural Heritage in Health. This approach suggests that preserving this valuable heritage is a matter of importance for the history of health in Brazil.

  10. 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.

  11. 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

  12. Coccidioidomycosis in Brazil. A case report

    Directory of Open Access Journals (Sweden)

    MARTINS Marilena dos Anjos

    1997-01-01

    Full Text Available Coccidioidomycosis is an endemic infection with a relatively limited geographic distribution: Mexico, Guatemala, Honduras, Colombia, Venezuela, Bolivia, Paraguai, Argentina and the southwest of the United States. In these countries, the endemic area is restricted to the semiarid desert like regions which are similar to the northeast of Brazil. Case report: The patient is a 32 year-old male, born in the state of Bahia (Northeast of Brazil and has been living in São Paulo (Southeast for 6 years. He was admitted at Hospital das Clínicas, at the Department of Pneumology in October 1996, with a 6 month history of progressive and productive cough, fever, malaise, chills, loss of weight, weakness and arthralgia in the small joints. Chest x-rays and computerized tomography disclosed an interstitial reticulonodular infiltrate with a cavity in the right upper lobe. The standard potassium hydroxide preparation of sputum and broncoalveolar lavage demonstrated the characteristic thickened wall spherules in various stages of development. Sabouraud dextrose agar, at 25° C and 30° C showed growth of white and cottony aerial micelium. The microscopic morphology disclosed branched hyphae characterized by thick walled, barrel shaped arthroconidia alternated with empty cells. The sorological studies with positive double immunodiffusion test, and also positive complement fixation test in 1/128 dilution confirmed the diagnosis. The patient has been treated with ketoconazole and presents a favorable clinical and radiological evolution

  13. Dynamics of Sheep Production in Brazil

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    Samuel Rezende Paiva

    2013-07-01

    Full Text Available Sheep production is present on all continents and has been practiced in Brazil since the colonization. In this study, the multitemporal dynamics of sheep production in Brazil is examined using official government data (Brazilian Institute for Geography and Statistics-IBGE from 1976 to 2010. Maps of flock growth rates and growth acceleration maps by municipality were elaborated. The Southern states are seen to show a reduction in production mainly due to the wool crisis in the 1970s and 80s. The Northeast is seen to be important for meat production. More recently, centerwest and northern states have shown an increase in growth rates but this is still incipient. The maps of growth, acceleration and midpoint for sheep production showed a noticeable return to an increase in production in the South in recent years. The midpoint of production flow was in the northeast direction, which has stagnated. There was great dynamics in sheep production over the whole Brazilian territory, which affected supply chains due to the expansion of domestic and foreign markets. Areas with higher fluctuations in production are more vulnerable in terms of investment policies.

  14. Status of food irradiation in Brazil

    Energy Technology Data Exchange (ETDEWEB)

    Kikuchi, O.K. [Instituto de Pesquisas Energeticas e Nucleares (IPEN), Sao Paulo, SP (Brazil)

    1996-12-31

    Research on food irradiation in Brazil started in 1968 at the Center of Nuclear Energy for Agriculture (CENA), Piracicaba, Sao Paulo. At the Institute of Nuclear and Energy Research (IPEN-CNEN/SP), Sao Paulo, Sao Paulo, research on detection of irradiated foods is in progress. In 1973, the Brazilian government established a regulation about food irradiation. Nowadays, the products authorized to be irradiated are: rice, poultry, fish and fish products, potatoes, onions, avocados, persimmons, pineapples, wheat flour, maize, beans, spices, tomatoes, guavas, oranges, lemons, strawberries, mangoes, melons and papayas. The other recommended products to be approved in the future are: acerolas, apples, beans (dose > 1 kGy), beef, blueberries, cherries, cheeses, coffee, figs, fresh guaranas, garlics, grapefruits, grapes, mushrooms, nuts and pork. Today, there is only one commercial facility for irradiation services in the country, the Empresa Brasileira de Radiacoes Ltda. (EMBRARAD). This company operates a Nordion JS-7500 irradiator, with a present activity of about 1,000 kCi, designed for sterilizing medical devices. It also irradiates spices, dried foods, gemstones, cosmetics, wood and raw materials for pharmaceuticals. The plant operates 24 hours a day and the spices and dried foods represent 15% of the business. Powder of guarana seeds is irradiated also for exportation. There are two other commercial facilities for radiation sterilization in Brazil, operating exclusively for their own production. (J.P.N.)

  15. Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

    DEFF Research Database (Denmark)

    Hove, Marianne N; Kilic-Biyik, Kevser Z; Trotter, Alana

    2016-01-01

    from 29 families participated in a follow-up study of whom 59 harbored a CACNA1F mutation and 1 harbored a CABP4 mutation. Among the subjects with a CACNA1F mutation, subnormal visual acuity was present in all, nystagmus was present in 63%, and foveal hypoplasia was observed in 25/43 subjects. Foveal...

  16. Simultaneous mutation detection of three homoeologous genes in wheat by High Resolution Melting analysis and Mutation Surveyor®

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    Vincent Kate

    2009-12-01

    Full Text Available Abstract Background TILLING (Targeting Induced Local Lesions IN Genomes is a powerful tool for reverse genetics, combining traditional chemical mutagenesis with high-throughput PCR-based mutation detection to discover induced mutations that alter protein function. The most popular mutation detection method for TILLING is a mismatch cleavage assay using the endonuclease CelI. For this method, locus-specific PCR is essential. Most wheat genes are present as three similar sequences with high homology in exons and low homology in introns. Locus-specific primers can usually be designed in introns. However, it is sometimes difficult to design locus-specific PCR primers in a conserved region with high homology among the three homoeologous genes, or in a gene lacking introns, or if information on introns is not available. Here we describe a mutation detection method which combines High Resolution Melting (HRM analysis of mixed PCR amplicons containing three homoeologous gene fragments and sequence analysis using Mutation Surveyor® software, aimed at simultaneous detection of mutations in three homoeologous genes. Results We demonstrate that High Resolution Melting (HRM analysis can be used in mutation scans in mixed PCR amplicons containing three homoeologous gene fragments. Combining HRM scanning with sequence analysis using Mutation Surveyor® is sensitive enough to detect a single nucleotide mutation in the heterozygous state in a mixed PCR amplicon containing three homoeoloci. The method was tested and validated in an EMS (ethylmethane sulfonate-treated wheat TILLING population, screening mutations in the carboxyl terminal domain of the Starch Synthase II (SSII gene. Selected identified mutations of interest can be further analysed by cloning to confirm the mutation and determine the genomic origin of the mutation. Conclusion Polyploidy is common in plants. Conserved regions of a gene often represent functional domains and have high sequence

  17. Solar-UV-signature mutation prefers TCG to CCG: extrapolative consideration from UVA1-induced mutation spectra in mouse skin.

    Science.gov (United States)

    Ikehata, Hironobu; Kumagai, Jun; Ono, Tetsuya; Morita, Akimichi

    2013-08-01

    UVA1 exerts its genotoxicity on mammalian skin by producing cyclobutane pyrimidine dimers (CPDs) in DNA and preferentially inducing solar-UV-signature mutations, C → T base substitution mutations at methylated CpG-associated dipyrimidine (Py-mCpG) sites, as demonstrated previously using a 364 nm laser as a UVA1 source and lacZ-transgenic mice that utilize the transgene as a mutational reporter. In the present study, we confirmed that a broadband UVA1 source induced the same mutation profiles in mouse epidermis as the UVA1 laser, generalizing the previous result from a single 364 nm to a wider wavelength range of UVA1 (340-400 nm). Combined with our previous data on the mutation spectra induced in mouse epidermis by UVB, UVA2 and solar UVR, we proved that the solar-UV-signature mutation is commonly observed in the wavelength range from UVB to UVA, and found that UVA1 induces this mutation more preferentially than the other shorter wavelength ranges. This finding indicates that the solar-UV-signature mutation-causing CPDs, which are known to prefer Py-mCpG sites, could be produced with the energy provided by the longer wavelength region of UVR, suggesting a photochemical reaction through the excitation of pyrimidine bases to energy states that can be accomplished by absorption of even low-energy UVR. On the other hand, the lower proportions of solar-UV-signature mutations observed in the mutation spectra for UVB and solar UVR indicate that the direct photochemical reaction through excited singlet state of pyrimidine bases, which can be accomplished only by high-energy UVR, is also involved in the mutation induction at those shorter wavelengths of UVR. We also found that the solar-UV signature prefers 5'-TCG-3' to 5'-CCG-3' as mutational target sites, consistent with the fact that UVA induces CPDs selectively at thymine-containing dipyrimidine sites and that solar UVR induces them preferably at Py-mCpG sites. However, the mutation spectrum in human p53 gene from non

  18. Energy efficiency and renewable energy systems in Portugal and Brazil

    Directory of Open Access Journals (Sweden)

    Poul Alberg Østergaard

    2014-06-01

    Full Text Available 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 presented at The 1st International Congress on Energy & Environment ranging from electricity end-use analyses, electricity production analyses to socio-economic assessment and large-scale energy scenarios.

  19. The mineral economy of Brazil--Economia mineral do Brasil

    Science.gov (United States)

    Gurmendi, Alfredo C.; Barboza, Frederico Lopes; Thorman, Charles H.

    1999-01-01

    This study depicts the Brazilian government structure, mineral legislation and investment policy, taxation, foreign investment policies, environmental laws and regulations, and conditions in which the mineral industry operates. The report underlines Brazil's large and diversified mineral endowment. A total of 37 mineral commodities, or groups of closely related commodities, is discussed. An overview of the geologic setting of the major mineral deposits is presented. This report is presented in English and Portuguese in pdf format.

  20. The history of cerebrospinal fluid analysis in Brazil

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    Jose Antonio Livramento

    2013-09-01

    Full Text Available Analysis on cerebrospinal fluid (CSF in neurological diagnosis has always been considered to be a strong point among the main complementary examinations in Brazil. The present paper reviews the main events in the history of CSF in the neurological sciences, with emphasis on the founders of several CSF schools in our country from the beginning of the 20th century to the present time.

  1. Livedoid vasculopathy and its association with factor V Leiden mutation.

    Science.gov (United States)

    Yong, Angeline Anning; Tan, Audrey Wei Hsia; Giam, Yoke Chin; Tang, Mark Boon Yang

    2012-12-01

    Livedoid vasculopathy is a rare chronic relapsing disorder characterised by recurrent painful thrombotic and vasculitic ulcers on the legs. We present the cases of two Indian women with livedoid vasculopathy that were found to be associated with an underlying factor V Leiden heterozygous mutation. There were no other thrombotic manifestations, and livedoid vasculopathy was the sole presenting feature of the factor V Leiden mutation, although this could also be coincidental. Initial treatment with high-dose immunosuppressive therapy was suboptimal, and the addition of pentoxifylline and antiplatelet therapy was crucial in achieving disease control and remission. These cases highlight the possible association with an underlying prothrombotic disorder, such as factor V Leiden mutation, in patients with livedoid vasculopathy. Although this association is relatively uncommon, it is more relevant to Indian patients, as the presence of factor V Leiden mutation is highest in this ethnicity as compared to the local Malay and Chinese populations.

  2. A novel PTEN gene promoter mutation and untypical Cowden syndrome

    Institute of Scientific and Technical Information of China (English)

    Chen Liu; Guangbing Li; Rongrong Chen; Xiaobo Yang; Xue Zhao; Haitao Zhao

    2013-01-01

    Cowden syndrome (CS),an autosomal dominant disorder,is one of a spectrum of clinical disorders that have been linked to germline mutations in the phosphatase and tensin homolog (PTEN) gene.Although 70-80% of patients with CS have an identifiable germline PTEN mutation,the clinical diagnosis presents many challenges because of the phenotypic and genotypic variations.In the present study,we sequenced the exons and the promoter of PTEN gene,mutations and variations in the promoter and exons were identified,and a PTEN protein expression negative region was determined by immunohistochemistry (IHC).In conclusion,a novel promoter mutation we found in PTEN gene may turn off PTEN protein expression occasionally,leading to the disorder of PTEN and untypical CS manifestations.

  3. Minisequencing mitochondrial DNA pathogenic mutations

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    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.

  4. EG-08IDH MUTATIONS IN GLIOMAS ASSOCIATED WITH ENCHONDROMATOSIS

    Science.gov (United States)

    Nicholas, M. Kelly; Joseph, Loren; Venneti, Sriram; Daher, Ahmad; Pytel, Peter

    2014-01-01

    The enchondromatoses, Ollier's disease and Maffucci syndrome, are non-heritable developmental disorders characterized by multiple enchondromas (Olllier's) in association with hemangiomas (Maffucci). Glial neoplasms are reported in both disorders but a pathogenic mechanism underlying this association has not been identified. We report a case of anaplastic astrocytoma in a 23 year old man with Maffucci syndrome whose tumor carried a substitution mutation of arginine for cysteine at position 132 (R132C) of the isocitrate dehydrogenase 1 (IDH1) protein. This mutation, commonly found in Maffucci-associated enchondromas and hemangiomas, was not detected on routine immunohistochemical (IHC) analysis of the astrocytoma using the R132H mutation-specific antibody, commonly applied in clinical laboratories. The R132C mutation was detected by polymerase chain reaction (PCR) and subsequently confirmed using a SNaPshot assay. Because somatic mosaic IDH mutations are associated with enchondromas and hemangiomas in Maffucci syndrome, we looked for the R132C mutation in a hemangioma, peripheral blood mononuclear cells (PBMNC) and histologically normal brain surrounding the tumor from this patient. The mutation was present in the hemangioma, absent in PBMNC, and present in 2% of alleles in ‘normal’ brain. The low level in surrounding brain tissue is consistent with tumor cell infiltration, not mosaicism, as a S173T p53 mutation in the tumor showed similar results. Using IHC, we further demonstrated that the mutant IDH1 protein in this glioma functions as an oncometabolite. Two repressive histone trimethylation marks were strongly positive in the tumor, supporting a role for 2-hydroxyglutarate in the inhibition of histone demethylation. Together, these data demonstrate that an IDH1 mutation common in enchodromatoses underlies the association of glial tumors reported in both Ollier's disease and Maffucci syndrome.

  5. 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.

  6. Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1 in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing

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    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.

  7. 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

  8. [Somatic mutations in nuclear and mitochondrial DNA]. Progress report

    Energy Technology Data Exchange (ETDEWEB)

    1992-09-01

    The study is concerned the design of new assays that may detect rare somatic mutations in nuclear and mitochondrial DNA, which may increase upon exposure to mutagens, and thus become a marker of human exposure to such mutagens. Two assays for somatic mutation were presented, one for mitochondrial DNA deletions which was developed by the author, and one for deletions of the ADA gene which resides in the nucleus.

  9. Telomerase reverse transcriptase promoter mutations in hepatitis B virus-associated hepatocellular carcinoma

    Science.gov (United States)

    Yang, Xunjun; Guo, Xiuchan; Chen, Yao; Chen, Guorong; Ma, Yin; Huang, Kate; Zhang, Yuning; Zhao, Qiongya; Winkler, Cheryl A.; An, Ping; Lyu, Jianxin

    2016-01-01

    Telomerase reverse transcriptase (TERT) promoter mutations are among the most frequent noncoding somatic mutations in multiple cancers, including hepatocellular carcinoma (HCC). The clinical and pathological implications of TERT promoter mutations in hepatitis B virus (HBV)-associated HCC have not been resolved. To investigate TERT promoter mutations, protein expression, and their clinical-pathological implications, we sequenced the TERT promoter region for hotspot mutations in HCC tissues and performed immunostaining for TERT protein expression from HBV-associated HCC in Chinese patients. Of 276 HCC tumor DNA samples sequenced, 85 (31%) carried TERT promoter mutations. TERT promoter mutations were more frequent in those with low α-fetoprotein (AFP) serum levels (p = 0.03), advanced age (p = 0.04), and in those lacking HCC family history (p = 0.02), but were not correlated with HCC stages and grades. TERT protein levels were higher in HCC (n = 28) compared to normal liver tissues (n = 8) (p =0.001), but did not differ between mutated and non-mutated tumor tissues. In conclusion, TERT promoter mutations are common somatic mutations in HCC of Han Chinese with HBV infection. Detection of TERT promoter mutations in those with low levels of AFP may aid diagnosis of HCC with atypical presentation. PMID:27056898

  10. A Unique Profile of Adenomatous Polyposis Coli Gene Mutations in Iranian Patients Suffering Sporadic Colorectal Cancer

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    Mojtaba Hasanpour

    2014-03-01

    Full Text Available Objective: Colorectal cancer (CRC is one of the most common and aggressive cancers worldwide. The majority of CRC cases are sporadic that caused by somatic mutations. The Adenomatous Polyposis Coli (APC; OMIM 611731 is a tumor suppressor gene of Wnt pathway and is frequently mutated in CRC cases. This study was designed to investigate the spectrum of APC gene mutations in Iranian patients with sporadic colorectal cancer. Materials and Methods: In this descriptive study, Tumor and normal tissue samples were obtained from thirty randomly selected and unrelated sporadic CRC patients. We examined the hotspot region of the APC gene in all patients. Our mutation detection method was direct DNA sequencing. Results: We found a total of 8 different APC mutations, including two nonsense mutations (c.4099C>T and c.4348C>T, two missense mutations (c.3236C>G and c.3527C>T and four frame shift mutations (c.2804dupA, c.4317delT, c.4464_4471delATTACATT and c.4468_4469dupCA. The c.3236C>G and c.4468_4469dupCA are novel mutations. The overall frequency of APC mutation was 26.7% (8 of 30 patients. Conclusion: This mutation rate is lower in comparison with previous studies from other countries. The findings of present study demonstrate a different APC mutation spectrum in CRC patients of Iranian origin compared with other populations.

  11. Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations.

    Science.gov (United States)

    Kono, M; Nomura, T; Ohguchi, Y; Mizuno, O; Suzuki, S; Tsujiuchi, H; Hamajima, N; McLean, W H I; Shimizu, H; Akiyama, M

    2014-04-01

    Mutations in FLG coding profilaggrin cause ichthyosis vulgaris and are an important predisposing factor for atopic dermatitis. Until now, most case-control studies and population-based screenings have been performed only for prevalent mutations. In this study, we established a high-throughput FLG mutation detection system by real-time PCR with a set of two double-dye probes and conducted comprehensive screening for almost all of the Japanese-population-specific FLG mutations (ten FLG mutations). The present comprehensive screening for all ten FLG mutations provided a more precise prevalence rate for FLG mutations (11.1%, n = 820), which seemed high compared with data of previous reports based on screening for limited numbers of FLG mutations. Our comprehensive screening suggested that population-specific FLG mutations may be a significant predisposing factor for hay fever (odds ratio = 2.01 [95% CI: 1.027-3.936, P < 0.05]), although the sample sizes of this study were too small for reliable subphenotype analysis on the association between FLG mutations and hay fever in the eczema patients and the noneczema individuals, and it is not clear whether the association between FLG mutations and hay fever is due to the close association between FLG mutations and hay fever patients with eczema.

  12. TERT promoter mutations in skin cancer: the effects of sun exposure and X-irradiation.

    Science.gov (United States)

    Pópulo, Helena; Boaventura, Paula; Vinagre, João; Batista, Rui; Mendes, Adélia; Caldas, Regina; Pardal, Joana; Azevedo, Filomena; Honavar, Mrinalini; Guimarães, Isabel; Manuel Lopes, José; Sobrinho-Simões, Manuel; Soares, Paula

    2014-08-01

    The reactivation or reexpression of telomerase (TERT) is a widespread feature of neoplasms. TERT promoter mutations were recently reported that were hypothesized to result from UV radiation. In this retrospective study, we assessed TERT promoter mutations in 196 cutaneous basal cell carcinomas (BCCs), including 102 tumors from X-irradiated patients, 94 tumors from patients never exposed to ionizing radiation treatment, and 116 melanomas. We sought to evaluate the effects of UV and X-ray irradiation on TERT mutation frequency. TERT mutations were detected in 27% of BCCs from X-irradiated patients, 51% of BCCs from nonirradiated patients, and 22% of melanoma patients. TERT mutations were significantly increased in non-X-irradiated BCC patients compared with X-irradiated BCC patients; the mutations also presented a different mutation signature. In nonirradiated patients, TERT mutations were more frequent in BCCs of sun-exposed skin, supporting a possible causative role of UV radiation. In melanoma, TERT promoter mutations were generally restricted to intermittent sun-exposed areas and were associated with nodular and superficial spreading subtypes, increased thickness, ulceration, increased mitotic rate, and BRAFV600E mutations. Our results suggest that various carcinogenic factors may cause distinct TERT promoter mutations in BCC and that TERT promoter mutations might be associated with a poorer prognosis in melanoma.

  13. Clinical characteristics and prognosis of acute myeloid leukemia associated with DNA-methylation regulatory gene mutations.

    Science.gov (United States)

    Ryotokuji, Takeshi; Yamaguchi, Hiroki; Ueki, Toshimitsu; Usuki, Kensuke; Kurosawa, Saiko; Kobayashi, Yutaka; Kawata, Eri; Tajika, Kenji; Gomi, Seiji; Kanda, Junya; Kobayashi, Anna; Omori, Ikuko; Marumo, Atsushi; Fujiwara, Yusuke; Yui, Shunsuke; Terada, Kazuki; Fukunaga, Keiko; Hirakawa, Tsuneaki; Arai, Kunihito; Kitano, Tomoaki; Kosaka, Fumiko; Tamai, Hayato; Nakayama, Kazutaka; Wakita, Satoshi; Fukuda, Takahiro; Inokuchi, Koiti

    2016-09-01

    In recent years, it has been reported that the frequency of DNA-methylation regulatory gene mutations - mutations of the genes that regulate gene expression through DNA methylation - is high in acute myeloid leukemia. The objective of the present study was to elucidate the clinical characteristics and prognosis of acute myeloid leukemia with associated DNA-methylation regulatory gene mutation. We studied 308 patients with acute myeloid leukemia. DNA-methylation regulatory gene mutations were observed in 135 of the 308 cases (43.8%). Acute myeloid leukemia associated with a DNA-methylation regulatory gene mutation was more frequent in older patients (Pgene mutation was an unfavorable prognostic factor for overall survival in the whole cohort (P=0.0018), in patients aged ≤70 years, in patients with intermediate cytogenetic risk, and in FLT3-ITD-negative patients (P=0.0409). Among the patients with DNA-methylation regulatory gene mutations, 26.7% were found to have two or more such mutations and prognosis worsened with increasing number of mutations. In multivariate analysis DNA-methylation regulatory gene mutation was an independent unfavorable prognostic factor for overall survival (P=0.0424). However, patients with a DNA-methylation regulatory gene mutation who underwent allogeneic stem cell transplantation in first remission had a significantly better prognosis than those who did not undergo such transplantation (P=0.0254). Our study establishes that DNA-methylation regulatory gene mutation is an important unfavorable prognostic factor in acute myeloid leukemia.

  14. Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma

    Directory of Open Access Journals (Sweden)

    Bardeesy Nabeel

    2011-02-01

    Full Text Available Abstract Background 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. Methods 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. Results 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. Conclusions 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.

  15. Headache research and medical practice in Brazil: an historical overview.

    Science.gov (United States)

    Valença, Marcelo Moraes; da Silva, Amanda Araújo; Bordini, Carlos Alberto

    2015-02-01

    Since the creation of the Brazilian Headache Society in 1978, substantial developments have taken place in both research and clinical practice in the field of headache medicine in Brazil. The Society now has almost 300 members throughout the country, actively working to improve the health of the general population and, in particular, diagnose and treat headache disorders. In addition, in a few large cities, such as São Paulo, Rio de Janeiro, Recife, Ribeirão Preto, Curitiba, and Porto Alegre, headache specialists have come together to promote research projects and increase knowledge in the field through MSc, PhD, and postdoctoral programs. Furthermore, scientific journals have emerged and books have been published to record and disseminate Brazilian scientific production in headache medicine. In this narrative review, we will briefly describe some important aspects of headache medicine in Brazil from prehistoric times to the present day, discuss the origin of headache medicine as a specialty in Brazil, the principal publications dealing with headache disorders, the use of plants and other unconventional forms of treatment used by faith healers, the main training centers, and the research produced to date by Brazilians. In conclusion, in recent years enormous progress has been made in headache medicine in Brazil stimulating us to review and expand our role in an increasingly international scenario.

  16. 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.

  17. 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.

  18. Bi-directional SIFT predicts a subset of activating mutations.

    Science.gov (United States)

    Lee, William; Zhang, Yan; Mukhyala, Kiran; Lazarus, Robert A; Zhang, Zemin

    2009-12-14

    Advancements in sequencing technologies have empowered recent efforts to identify polymorphisms and mutations on a global scale. The large number of variations and mutations found in these projects requires high-throughput tools to identify those that are most likely to have an impact on function. Numerous computational tools exist for predicting which mutations are likely to be functional, but none that specifically attempt to identify mutations that result in hyperactivation or gain-of-function. Here we present a modified version of the SIFT (Sorting Intolerant from Tolerant) algorithm that utilizes protein sequence alignments with homologous sequences to identify functional mutations based on evolutionary fitness. We show that this bi-directional SIFT (B-SIFT) is capable of identifying experimentally verified activating mutants from multiple datasets. B-SIFT analysis of large-scale cancer genotyping data identified potential activating mutations, some of which we have provided detailed structural evidence to support. B-SIFT could prove to be a valuable tool for efforts in protein engineering as well as in identification of functional mutations in cancer.

  19. ENU-induced phenovariance in mice: inferences from 587 mutations

    Directory of Open Access Journals (Sweden)

    Arnold Carrie N

    2012-10-01

    Full Text Available Abstract Background We present a compendium of N-ethyl-N-nitrosourea (ENU-induced mouse mutations, identified in our laboratory over a period of 10 years either on the basis of phenotype or whole genome and/or whole exome sequencing, and archived in the Mutagenetix database. Our purpose is threefold: 1 to formally describe many point mutations, including those that were not previously disclosed in peer-reviewed publications; 2 to assess the characteristics of these mutations; and 3 to estimate the likelihood that a missense mutation induced by ENU will create a detectable phenotype. Findings In the context of an ENU mutagenesis program for C57BL/6J mice, a total of 185 phenotypes were tracked to mutations in 129 genes. In addition, 402 incidental mutations were identified and predicted to affect 390 genes. As previously reported, ENU shows strand asymmetry in its induction of mutations, particularly favoring T to A rather than A to T in the sense strand of coding regions and splice junctions. Some amino acid substitutions are far more likely to be damaging than others, and some are far more likely to be observed. Indeed, from among a total of 494 non-synonymous coding mutations, ENU was observed to create only 114 of the 182 possible amino acid substitutions that single base changes can achieve. Based on differences in overt null allele frequencies observed in phenotypic vs. non-phenotypic mutation sets, we infer that ENU-induced missense mutations create detectable phenotype only about 1 in 4.7 times. While the remaining mutations may not be functionally neutral, they are, on average, beneath the limits of detection of the phenotypic assays we applied. Conclusions Collectively, these mutations add to our understanding of the chemical specificity of ENU, the types of amino acid substitutions it creates, and its efficiency in causing phenovariance. Our data support the validity of computational algorithms for the prediction of damage caused by

  20. Abstract Presentations: What Do SGIM Presenters Prefer?

    OpenAIRE

    Tulsky, Asher A.; Kouides, Ruth W

    1998-01-01

    We surveyed physicians presenting abstracts at the 1995 Society of General Internal Medicine annual meeting to determine whether the oral or poster format better achieved their presentation goals. Poster presentations better met respondents' objectives for feedback and criticism and for networking and developing collaborative projects, while oral presentations better met their objectives for national visibility and sharing knowledge within one's field. Sixty-nine percent of respondents prefer...

  1. The hard choice for alternative biofuels to diesel in Brazil.

    Science.gov (United States)

    Carioca, J O B; Hiluy Filho, J J; Leal, M R L V; Macambira, F S

    2009-01-01

    This paper selects biofuel scenarios to substitute diesel in Brazil based on oil reserves increase, diesel imports, CO(2) emissions, crops agronomic yields, byproducts marketing and social impacts. This hard task still considers that agricultural practices in developing countries have large social impacts. Brazil presents high consumption of diesel oil in transport; low agronomic yield of traditional vegetable oil crops, which demand large cultivation areas contrasting with microalgae and palm oils which present high productivity. Concerning technologies, thermal cracking and transesterification of vegetable oils present a difficult economic situation related to vegetable oils price, food competition and glycerin market; BTL technology, meaning thermal gasification of biomass to liquids, faces problems related to low density of biomaterials and low viscosity of synthetic biodiesel produced. Biorefinery algal integrated systems and co-solvent technology to introduce up to 8% of ethanol into diesel seem to be feasible routes to reduce diesel consumption.

  2. Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.

    Science.gov (United States)

    Das, Dhanjit Kumar; Raha, Sarbani; Sanghavi, Daksha; Maitra, Anurupa; Udani, Vrajesh

    2013-02-15

    Rett syndrome (RTT) is an X-linked neurodevelopmental disorder, primarily affecting females and characterized by developmental regression, epilepsy, stereotypical hand movements, and motor abnormalities. Its prevalence is about 1 in 10,000 female births. Rett syndrome is caused by mutations within methyl CpG-binding protein 2 (MECP2) gene. Over 270 individual nucleotide changes which cause pathogenic mutations have been reported. However, eight most commonly occurring missense and nonsense mutations account for almost 70% of all patients. We screened 90 individuals with Rett syndrome phenotype. A total of 19 different MECP2 mutations and polymorphisms were identified in 27 patients. Of the 19 mutations, we identified 7 (37%) frameshift, 6 (31%) nonsense, 14 (74%) missense mutations and one duplication (5%). The most frequent pathogenic changes were: missense p.T158M (11%), p.R133C (7.4%), and p.R306C (7.4%) and nonsense p.R168X (11%), p.R255X (7.4%) mutations. We have identified two novel mutations namely p.385-388delPLPP present in atypical patients and p.Glu290AlafsX38 present in a classical patient of Rett syndrome. Sequence homology for p.385-388delPLPP mutation revealed that these 4 amino acids were conserved across mammalian species. This indicated the importance of these 4 amino acids in structure and function of the protein. A novel variant p.T479T has also been identified in a patient with atypical Rett syndrome. A total of 62 (69%) patients remained without molecular genetics diagnosis that necessitates further search for mutations in other genes like CDKL5 and FOXG1 that are known to cause Rett phenotype. The majority of mutations are detected in exon 4 and only one mutation was present in exon 3. Therefore, our study suggests the need for screening exon 4 of MECP2 as first line of diagnosis in these patients.

  3. Nutrition-sensitive agriculture and the promotion of food and nutrition sovereignty and security in Brazil

    OpenAIRE

    Renato Sergio Maluf; Luciene Burlandy; Mariana Santarelli; Vanessa Schottz; Juliana Simões Speranza

    2015-01-01

    AbstractThis paper explores the possibilities of the nutrition-sensitive agriculture approach in the context of the programs and actions towards promoting food and nutrition sovereignty and security in Brazil. To analyze the links between nutrition and agriculture, this paper presents the conceptual framework related to food and nutrition security, and stresses the correlations among concepts, institutional structures and program design in Brazil. Dominant models of food production and consum...

  4. Hemitrichia serpula var. piauiensis (Trichiaceae, Myxomycetes - a new variety from Brazil

    Directory of Open Access Journals (Sweden)

    Cavalcanti Laise de Holanda

    2001-01-01

    Full Text Available A new variety of Hemitrichia serpula (Scop. Rost. from Brazil, H. serpula var. piauiensis Cavalcanti & Mobin, is described and illustrated. The new taxon has a somewhat less spinulose capillitium, with short and scattered spines; spores are finely reticulate , with well-defined meshes. The type is deposited in the Herbarium UFP, Myxomycete Collection, Federal University of Pernambuco (Recife, Pernambuco State, Brazil. A key to the three varieties of the species is presented as well.

  5. Notes on Cooperation Between Brazil - Angola Regarding Food Security and Nutrition

    OpenAIRE

    Andréa Pires Rocha; José Francisco dos Santos

    2015-01-01

    This article discusses the issue of combating hunger in Brazil and Angola, addressing aspects of cooperation between the two countries as regards the assurance of the Human Right to Adequate Food and Food and Nutrition Security. We conducted desk research reports from international organizations and agencies as well as in official agreements present in the Foreign Ministry website. The discussion is divided into four parts, which involve the historical review of the relationship Brazil - Ango...

  6. Brazil nuts are subject to infection with B and G aflatoxin-producing fungus, Aspergillus pseudonomius

    DEFF Research Database (Denmark)

    Massi, Fernanda Pelisson; Cameiro Vieira, Maria Lucia; Sartori, Daniele

    2014-01-01

    The exploitation of the Brazil nut is one of the most important activities of the extractive communities of the Amazon rainforest. However, its commercialization can be affected by the presence of aflatoxins produced by fungi, namely Aspergillus section Flavi. In the present study, we investigate...... in Brazil nuts of A. pseudonomius. The G-type aflatoxins and the mycotoxin tenuazonic acid are reported here for the first time in A. pseudonomius....

  7. New distribution records of Mesoclemmys vanderhaegei (Testudines: Chelidae from southeastern Brazil, including observations on reproduction

    Directory of Open Access Journals (Sweden)

    Fábio Maffei

    2016-09-01

    Full Text Available Mesoclemmys vanderhaegei is a poorly known freshwater turtle widely distributed in central South America, where it occurs in Argentina, Paraguay, Brazil, and probably Bolivia.  It is considered “Near Threatened” by the IUCN Red List and “Data Deficient” by other local lists. Herein, we present new records and data on the reproductive biology of Mesoclemmys vanderhaegei in southeastern Brazil

  8. 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.

  9. The Mutation Profile of Calreticulin in Patients with Myeloproliferative Neoplasms and Acute Leukemia

    Directory of Open Access Journals (Sweden)

    Jingyi Wang

    2016-08-01

    Full Text Available Objective: Calreticulin (CALR plays important roles in cell proliferation, apoptosis, and immune responses. CALR mutations were described recently in Janus kinase 2 gene (JAK2-negative or MPLnegative primary myelofibrosis (PMF and essential thrombocythemia (ET patients. CALR trails JAK2 as the second most mutated gene in myeloproliferative neoplasms (MPNs. However, little is known about CALR mutation in Chinese patients with leukemia. In the present study, a cohort of 305 Chinese patients with hematopoietic neoplasms was screened for CALR mutations, with the aim of uncovering the frequency of CALR mutations in leukemia and MPNs. Materials and Methods: Polymerase chain reaction and direct sequencing were performed to analyze mutations of CALR in 305 patients with hematopoietic malignancies, including 135 acute myeloid leukemia patients, 57 acute lymphoblastic leukemia patients, and 113 MPN patients. Results: CALR mutations were found in 10.6% (12 of 113 of samples from patients with MPNs. CALR mutations were determined in 11.3% (6 of 53, 21.7% (5 of 23, and 9.1% (1/11 of patients with ET, PMF, and unclassifiable MPN, respectively. Conclusion: We showed that MPN patients carrying CALR mutations presented with higher platelet counts and lower hemoglobin levels compared to those with mutated JAK2. However, all of the leukemia patients had negative results for CALR mutations.

  10. PPARγ mutations, lipodystrophy and diabetes.

    Science.gov (United States)

    Astapova, Olga; Leff, Todd

    2014-11-01

    The focus of this review is the lipodystrophy syndrome caused by mutation in the PPARγ nuclear receptor - partial familial lipodystrophy FPLD3. To provide a broader context for how these mutations act to generate the clinical features of partial lipodystrophy we will review the basic biology of PPARγ and also survey the set PPARγ genetic variants that do not cause lipodystrophy, but are nonetheless associated with clinically related syndromes, specifically type 2 diabetes.

  11. Gene mutations in hepatocellular adenomas

    DEFF Research Database (Denmark)

    Raft, Marie B; Jørgensen, Ernö N; Vainer, Ben

    2015-01-01

    is associated with bi-allelic mutations in the TCF1 gene and morphologically has marked steatosis. β-catenin activating HCA has increased activity of the Wnt/β-catenin pathway and is associated with possible malignant transformation. Inflammatory HCA is characterized by an oncogene-induced inflammation due....... This review offers an overview of the reported gene mutations associated with hepatocellular adenomas together with a discussion of the diagnostic and prognostic value....

  12. Abortion in Brazil: A Search For Rights

    OpenAIRE

    Anjos, Karla Ferraz dos; Universidade Estadual do Sudoeste da Bahia; Santos, Vanessa Cruz; Universidade Estadual do Sudoeste da Bahia; Souzas, Raquel; Universidade Federal da Bahia; Eugênio, Benedito Gonçalves; Universidade Estadual do Sudoeste da Bahia

    2013-01-01

    Discussing the abortion theme in Brazil is highly problematic since it involves ethical, moral and legal precepts. The criminalization of abortion in Brazil favors a clandestine and unsafe practice and can lead to serious consequences to women´s health. In this perspective, this research deals with the legal context in which the abortion problem is inscribed in Brazil, coupled to the specific aims in pinpointing complications caused by the criminalization of clandestine abortion besides deali...

  13. A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation

    Science.gov (United States)

    Sana, Maria Elena; Quilliam, Lawrence A.; Spitaleri, Andrea; Pezzoli, Laura; Marchetti, Daniela; Lodrini, Chiara; Candiago, Elisabetta; Lincesso, Anna Rita; Ferrazzi, Paolo; Iascone, Maria

    2016-01-01

    Several genetic conditions can lead to left ventricular hypertrophy (LVH). Among them, hypertrophic cardiomyopathy (HCM), caused by mutations in sarcomere genes, is the most common inherited cardiac disease. Instead, RASopathies, a rare class of disorders characterized by neuro-cardio-facial-cutaneous abnormalities and sometimes presenting with LVH, are caused by mutations in the RAS-MAPK pathway. We report on a 62-years-old male who presented isolated severe obstructive LVH but did not carry the sarcomere mutation previously identified in his affected relatives. By exome sequencing, we detected a novel mutation in HRAS gene (NM_005343.2:p.Arg68Trp), present also in the proband’s daughter, who showed mild LVH and severe intellectual disability. The cardiac phenotype was indistinguishable between family members carrying either mutation. In silico studies suggested that the mutated HRAS protein is constitutionally activated. Consistently, functional characterization in vitro confirmed elevated HRAS-GTP accumulation and downstream RAS-MAPK pathway activation that are known to drive cell proliferation in LVH. Our study emphasizes the role of RAS signaling in cardiac hypertrophy and highlights the complexity in differential diagnosis of RASopathies. In fact, the mild features of RASopathy and the recurrence of sarcomeric HCM in this family delayed the correct diagnosis until comprehensive genetic testing was performed. PMID:28002430

  14. National epilepsy movement in Brazil

    OpenAIRE

    P T Fernandes; Noronha, A. L. A.; Sander, J. W.; L. M. Li

    2007-01-01

    Purpose: To establish a social network of epilepsy lay organization in Brazil to provide advocacy for people with epilepsy and eventually forma powerful National Epilepsy movement. Method.-We actively searched for any associations, support groups or organizations related to epilepsy in the country by personal contacts, internet search and by telephone search. Contact was then established with any entity found. Results: The first meeting was held in Campinas in March 2003, and was attended by ...

  15. Brazil-U.S. Relations

    Science.gov (United States)

    2009-06-03

    Currently at least ten bilateral mechanisms are in place through which U.S. and Brazilian government and business leaders interface on issues of...base, 430 kilograms of crack cocaine, 182 metric tons of marijuana, 12 kilograms of heroin, 125,706 dosage units of ecstasy , and 95,653 dosage units of...States continue to work together to address intellectual property issues, primarily through the U.S.-Brazil Bilateral Consultative Mechanism and the

  16. Brazil, A Potential World Power?

    Science.gov (United States)

    1966-04-22

    inadequate transportation system. Much of the difficulty in exploiting the great natural wealth of the country has been the direct result of a poor ...exploding birth rate and high infant mortality; great wealth and degrading poverty . Much of the poverty and high mortality can be attributed to a vicious...circle of poverty creating ignorance and ignorance creating poverty . Brazil’s population is about 80 million and has been increas- ing at the rate of

  17. Brazil's Economy:Too Hot

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    @@ Brazil has a lot to be proud of.A decade of faster growth and progressive social policies has brought a prosperity that is ever more widely shared.The unemployment rate for April, at 6.4%, is the lowest on record.Credit is booming, particularly to the swelling numbers who have moved out of poverty and into the middle class.Income inequality, though still high, has fallen sharply.For most Brazilians life has never been so good.

  18. Mutational dynamics of murine angiogenin duplicates

    Directory of Open Access Journals (Sweden)

    Fares Mario A

    2010-10-01

    Full Text Available Abstract Background Angiogenin (Ang is a protein involved in angiogenesis by inducing the formation of blood vessels. The biomedical importance of this protein has come from findings linking mutations in Ang to cancer progression and neurodegenerative diseases. These findings highlight the evolutionary constrain on Ang amino acid sequence. However, previous studies comparing human Angiogenin with homologs from other phylogenetically related organisms have led to the conclusion that Ang presents a striking variability. Whether this variability has an adaptive value per se remains elusive. Understanding why many functional Ang paralogs have been preserved in mouse and rat and identifying functional divergence mutations at these copies may explain the relationship between mutations and function. In spite of the importance of testing this hypothesis from the evolutionarily and biomedical perspectives, this remains yet unaccomplished. Here we test the main mutational dynamics driving the evolution and function of Ang paralogs in mammals. Results We analysed the phylogenetic asymmetries between the different Ang gene copies in mouse and rat in the context of vertebrate Ang phylogeny. This analysis shows strong evidence in support of accelerated evolution in some Ang murine copies (mAng. This acceleration is not due to non-functionalisation because constraints on amino acid replacements remain strong. We identify many of the amino acid sites involved in signal localization and nucleotide binding by Ang to have evolved under diversifying selection. Compensatory effects of many of the mutations at these paralogs and their key structural location in or nearby important functional regions support a possible functional shift (functional divergence in many Ang copies. Similarities between 3D-structural models for mAng copies suggest that their divergence is mainly functional. Conclusions We identify the main evolutionary dynamics shaping the variability of

  19. Decentralization and REDD+ in Brazil

    Directory of Open Access Journals (Sweden)

    Fabiano Toni

    2011-01-01

    Full Text Available Recent discussions on REDD+ (Reducing Emissions from Deforestation and Forest Degradation, plus conservation, sustainable management of forests and enhancement of forest carbon stocks have raised optimism about reducing carbon emissions and deforestation in tropical countries. If approved under the United Nations Framework Convention on Climate Change (UNFCCC, REDD+ mechanisms may generate a substantial influx of financial resources to developing countries. Some authors argue that this money could reverse the ongoing process of decentralization of forest policies that has spread through a large number of developing countries in the past two decades. Central states will be accountable for REDD+ money, and may be compelled to control and keep a significant share of REDD+ funds. Supporters of decentralization argue that centralized implementation of REDD+ will be ineffective and inefficient. In this paper, I examine the relation between subnational governments and REDD+ in Brazil. Data show that some state governments in the Brazilian Amazon have played a key role in creating protected areas (PAs after 2003, which helped decrease deforestation rates. Governors have different stimuli for creating PAs. Some respond to the needs of their political constituency; others have expectations to boost the forest sector so as to increase fiscal revenues. Governors also have led the discussion on REDD+ in Brazil since 2008. Considering their interests and political power, REDD+ is unlikely to curb decentralization in Brazil.

  20. ITMF’s Annual Conference in Brazil

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    This year, the ITMF Annual Conference will take place in So Paulo/Brazil from October 17 – 19, 2010. China has a strong presence of important delegation organized by China National Textile and Apparel Council (CNTAC) which successfully presented ITMF’s first annual gathering in this new member country last year. As agreed by Dr. Christian Schindler, Director General of ITMF, China Textile magazine reproduces some of the articles sent to our editor who has combined and compressed the following interviews into one report for page reason in this issue. For the full text of all the relevant articles is available with Dr. Schindler, please visit ITMF’s official website for more information about this annual conference.

  1. Sciences and races in Brazil ca. 1900

    Directory of Open Access Journals (Sweden)

    Sánchez Arteaga, Juan Manuel

    2009-12-01

    Full Text Available This paper attempts to provide a general overview about the way in which Brazilian medicine and physical anthropology gave a naturalistic approach to the idea of race and to the «problem» posed by the mixture of races in the country during the second half of the 19th century and the beginning of the 20th century, coinciding with the introduction of evolutionism in Brazil.

    El presente artículo trata de mostrar una visión panorámica sobre el modo en que la medicina y la antropología física brasileñas trataron la cuestión de las «razas» y el mestizaje durante la segunda mitad del siglo XIX y principios del siglo XX, a la vez que los principios evolucionistas pasaban a ser aceptados por la ciencia nacional.

  2. Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients

    Indian Academy of Sciences (India)

    Madhurima Dikshit; Rakhi Agarwal

    2001-08-01

    More than 100 mutations have been reported till date in the rhodopsin gene in patients with retinitis pigmentosa. The present study was undertaken to detect the reported rhodopsin gene point mutations in Indian retinitis pigmentosa patients. We looked for presence or absence of codon 345 and 347 mutations in exon 5 of the gene using the technique of allele-specific polymerase chain reaction by designing primers for each mutation. We have examined 100 patients from 76 families irrespective of genetic categories. Surprisingly, in our sample the very widely reported highly frequent mutations of codon 347 (P → S/A/R/Q/L/T) were absent while the codon 345 mutation V → M was seen in three cases in one family (autosomal dominant form) and in one sporadic case (total two families). This is the first report on codon 345 and 347 mutation in Indian retinitis pigmentosa subjects.

  3. Lung Adenocarcinoma with Pulmonary Miliary Metastases and Complex Somatic Heterozygous EGFR Mutation

    Directory of Open Access Journals (Sweden)

    Alexandre Schaller

    2014-11-01

    Full Text Available The pretreatment detection of an activating mutation of EGFR is now routinely performed in metastatic nonsquamous non-small cell lung cancer (NSCLC. The therapeutic impact of such a detection is major, as patients with advanced NSCLC exhibiting a mutation of exon 19 or 21 will benefit from EGFR-tyrosine kinase inhibitors (TKI. The presence of an EGFR resistance mutation, such as T790M in EGFR-TKI-naïve patients, is seldom looked for and is related either to a germinal mutation or to somatically mutated subclones. It has a negative predictive impact. We present the case of a patient with a lung papillary adenocarcinoma and miliary intrapulmonary metastases whose tumor displays a somatic complex heterozygous EGFR mutation, combining L858R (exon 21 and a primary resistance mutation T790M (exon 20, both detected by direct sequencing.

  4. Differential Evolution with Gaussian Mutation for Economic Dispatch

    Science.gov (United States)

    Basu, Mousumi; Jena, Chitralekha; Panigrahi, Chinmoy Kumar

    2016-12-01

    This paper presents differential evolution with Gaussian mutation (DEGM) to solve economic dispatch problem of thermal generating units with non-smooth/non-convex cost functions due to valve-point loading, taking into account transmission losses and nonlinear generator constraints such as prohibited operating zones. Differential evolution (DE) is a simple yet powerful global optimization technique. It exploits the differences of randomly sampled pairs of objective vectors for its mutation process. This mutation process is not suitable for complex multimodal optimization. This paper proposes Gaussian mutation in DE which improves search efficiency and guarantees a high probability of obtaining the global optimum without significantly impairing the simplicity of the structure of DE. The effectiveness of the proposed method has been verified on three different test systems. From the comparison with other evolutionary methods, it is found that DEGM based approach is able to provide better solution.

  5. Current findings for recurring mutations in acute myeloid leukemia

    Directory of Open Access Journals (Sweden)

    Takahashi Shinichiro

    2011-09-01

    Full Text Available Abstract The development of acute myeloid leukemia (AML is a multistep process that requires at least two genetic abnormalities for the development of the disease. The identification of genetic mutations in AML has greatly advanced our understanding of leukemogenesis. Recently, the use of novel technologies, such as massively parallel DNA sequencing or high-resolution single-nucleotide polymorphism arrays, has allowed the identification of several novel recurrent gene mutations in AML. The aim of this review is to summarize the current findings for the identification of these gene mutations (Dnmt, TET2, IDH1/2, NPM1, ASXL1, etc., most of which are frequently found in cytogenetically normal AML. The cooperative interactions of these molecular aberrations and their interactions with class I/II mutations are presented. The prognostic and predictive significances of these aberrations are also reviewed.

  6. Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.

    Science.gov (United States)

    Gasse, B; Karayigit, E; Mathieu, E; Jung, S; Garret, A; Huckert, M; Morkmued, S; Schneider, C; Vidal, L; Hemmerlé, J; Sire, J-Y; Bloch-Zupan, A

    2013-07-01

    In this article, we focus on hypomaturation autosomal-recessive-type amelogenesis imperfecta (type IIA2) and describe 2 new causal Matrix metalloproteinase 20 (MMP20) mutations validated in two unrelated families: a missense mutation p.T130I at the expected homozygous state, and a compound heterozygous mutation having the same mutation combined with a nucleotide deletion, leading to a premature stop codon (p.N120fz*2). We characterized the enamel structure of the latter case using scanning electron microscopy analysis and microanalysis (Energy-dispersive X-ray Spectroscopy, EDX) and confirmed the hypomaturation-type amelogenesis imperfecta as identified in the clinical diagnosis. The mineralized content was slightly decreased, with magnesium substituting for calcium in the crystal structure. The anomalies affected enamel with minimal inter-rod enamel present and apatite crystals perpendicular to the enamel prisms, suggesting a possible new role for MMP20 in enamel formation.

  7. Investigation of tick vectors of Hepatozoon canis in Brazil.

    Science.gov (United States)

    Demoner, Larissa de Castro; Rubini, Adriano Stefani; Paduan, Karina dos Santos; Metzger, Betina; de Paula Antunes, João Marcelo Azevedo; Martins, Thiago Fenandes; Mathias, Maria Izabel Camargo; O'Dwyer, Lucia Helena

    2013-12-01

    Hepatozoon canis is a common apicomplexan parasite of dogs. In Brazil, in addition to Rhipicephalus sanguineus, Amblyomma ovale, Amblyomma cajennense, and Rhipicephalus (Boophilus) microplus have been suggested to act as vectors. The present study aimed to evaluate, under controlled conditions, the acquisition of H. canis by A. ovale, R. sanguineus, and A. cajennense after feeding on naturally infected dogs. Cytological and histophatological examinations were performed to recover oocysts and other sporogonic stages of the protozoan from the experimentally infected nymphs and adults. None of the R. sanguineus (n=30) or A. cajennense nymphs (n=15) that were dissected after feeding on H. canis naturally infected dogs became infected by the hemoparasite. Likewise, none of the R. sanguineus (n=165) and A. cajennense (n=114) adult ticks that were fed as nymphs on dogs demonstrated infection. Additionally, A. cajennense adult ticks were incapable of acquiring the infection, since no parasite was found in 62 adults that fed on H. canis-infected dogs. With regard to A. ovale ticks, 2 different infestations were carried out. Firstly, a dog with naturally occurring hepatozoonosis was infested with A. ovale adults originating from Rondônia, Brazil. Ticks fed to full engorgement. A total of 31 adults was collected from the dog and dissected on the third day after natural detachment. Oocysts were detected in 13 (42%) of the ticks. The second experimental infestation was carried out using adult ticks originating from São Paulo, Brazil. Surprisingly, of the 103 dissected ticks, only one (1%) contained oocysts in the hemocoel. No other sporogonic stage was found. Results indicate that different strains of A. ovale ticks may exist in Brazil with different susceptibilities to pathogens. Furthermore, it is possible that R. sanguineus and A. cajennense have little or no importance in the transmission of H. canis in rural areas of Brazil.

  8. Cryptococcus gattii-Induced Infections in Dogs from Southern Brazil.

    Science.gov (United States)

    Headley, Selwyn Arlington; Di Santis, Giovana Wingeter; de Alcântara, Brígida Kussumoto; Costa, Thais Correa; da Silva, Elisangela Olegário; Pretto-Giordano, Lucienne Garcia; Gomes, Lucas Alécio; Alfieri, Amauri Alcindo; Bracarense, Ana Paula Frederico R L

    2015-10-01

    Cryptococcus gattii-induced cryptococcosis is an emerging infectious disease of humans and animals worldwide, with rare descriptions of this infection in domestic animals from Brazil. This study presents the findings associated with C. gattii in dogs from Londrina, Paraná, Southern Brazil. Two dogs, a 3-year-old, female German shepherd and a 6-year-old, male Boxer, were evaluated by a combination of pathological, mycological, and molecular diagnostic techniques. Significant pathological alterations included cryptococcal lymphadenitis, meningoencephalitis, tonsillitis, and rhinitis with nasal cryptococcomas in the German shepherd dog, while cryptococcal lymphadenitis and pneumonia were observed in the Boxer; both dogs had pseudocystic cryptococcosis. The mucicarmine histochemical stain readily identified the intralesional cryptococcal budding organisms in all affected tissues. Mycological culture and isolation confirmed the yeasts as C. gattii due to positive reaction with the L-canavanine glycine bromothymol blue agar. A PCR assay using the internal transcribed spacers (ITS)1 and ITS2 primers, which target the ITS1 and 2 regions including the 5.8S rRNA gene, amplified the desired amplicons; direct sequencing confirmed the isolate as C. gattii. ITS nucleotide differentiation demonstrated that the isolate forms part of the ITS type 4 Cryptococcus organisms which corresponds to the C. gattii VGII molecular subtype or the RAPD type 2 Cryptococcus organisms. Collectively, these findings confirmed the participation of C. gattii in the etiopathogenesis of the lesions observed in these dogs and expanded the epidemiological niche of this important mycotic agent to include Southern Brazil. It is noteworthy to mention that previous epidemiological studies have suggested that C. gattii-induced cryptococcosis is more frequently diagnosed in Northern relative to Southern Brazil, so these findings might suggest an expansion of the distribution of this agent within continental

  9. Making your presentation fun: creative presentation techniques

    Energy Technology Data Exchange (ETDEWEB)

    KEENEN,MARTHA JANE

    2000-05-18

    What possesses someone to volunteer and go through hoops and red tape to make a presentation at a conference? For that matter, why does anyone ever present anything to anyone? Actually, presentations are a fact of life and there are many reasons for doing a presentation and doing it well. New and existing staff need training and orientation to the way things are done here. Handing all of them a manual and hoping they read it is pretty much a waste of paper. On the other hand, an effective, entertaining and upbeat presentation on the relevant topics is more likely to stick with those people. They will even have a name and face to remember and seek out when they have an issue on or with that topic. This can be a very effective beginning for networking with new peers. The presenter is seen as knowledgeable, as a source of information on company topics and possibly evaluated as a potential mentor or future manager. Project staff and/or peers benefit from clear, concise, presentations of topical knowledge. This is one way that a group working on various aspects of the same project or program can stay in touch and in step with each other. Most importantly, presentations may be the best or only door into the minds (and budgets) of management and customers. These presentations are a wonderful opportunity to address legal and compliance issues, budget, staffing, and services. Here is a chance, maybe the only one, to demonstrate and explain the wonderfulness of a program and the benefit they get by using the services offered most effectively. An interactive presentation on legal and compliance issues can be an effective tool in helping customers and/or management make good risk management decisions.

  10. Only the B biotype of Bemisia tabaci is present on vegetables in São Paulo State, Brazil Somente o biótipo B de Bemisia tabaci ocorre em hortaliças no Estado de São Paulo, Brasil

    Directory of Open Access Journals (Sweden)

    Kelly Cristina Gonçales Rocha

    2011-02-01

    Full Text Available Bemisia tabaci (Genn. is one of the most important pests in cultivated areas of vegetables and ornamental crops around the world. Based on the mitochondrial cytochrome oxidize I (mtCOI sequence, there is evidence that B. tabaci should be considered a cryptic species complex of 11 groups containing 24 species. Two of the groups, Middle East-Asia Minor 1 and Mediterranean include biotypes B and Q, respectively. In this study we evaluated the mtCOI sequence of B. tabaci populations collected in sites of the state of São Paulo, Brazil. Using PCR-RFLP with Taq I, a typical biotype B profile was obtained for all specimens. Based on the comparison with mtCOI reference sequences we found four haplotypes all belonging to the Middle East-Asia Minor 1. They occurred in the hosts pepper (Capsicum annuum L., tomato (Solanum lycopersicum L., eggplant (Solanum melongena L. and cucurbitaceae plants.Bemisia tabaci (Genn. é considerada uma das mais importantes pragas em cultivos de hortaliças e ornamentais em todo o mundo. Baseado na análise da seqüência mitocondrial (citocromo oxidase I - mtCOI foi proposto recentemente que B. tabaci deva ser considerado um complexo críptico de espécies, contendo 11 grupos e 24 espécies. Dois destes grupos: Middle East-Asia Minor e Mediterranean englobam os biótipos B e Q, respectivamente. Avaliou-se a sequência mtCOI de espécimes de B. tabaci coletados em regiões do estado de São Paulo, Brasil. Por PCR-RFLP utilizando-se a enzima Taq I, pôde-se observar somente o padrão típico de clivagem para o biótipo B. Comparando-se com sequências consenso, todas as moscas brancas foram classificadas no grupo Middle East-Asia Minor e puderam ser separadas em quatro haplótipos, indicando prevalência do biótipo B em áreas de pimentão (Capsicum annuum L., tomate (Solanum lycopersicum L., cucurbitáceas e berinjela (Solanum melongena L. do Estado de São Paulo.

  11. Educação Física, esporte e cultura no ensino superior: íntimas relações com o Brasil e a atualidade Physical education, sport and culture in higher education: close relationships with Brazil and the present time

    Directory of Open Access Journals (Sweden)

    André Calil e Silva

    2010-12-01

    Full Text Available Este trabalho parte das concepções legais e profissionais da Educação Física e do esporte no ensino superior e sua relação com a cultura. Objetivamos vincular o trabalho do profissional em Educação Física de ensino superior e o desenvolvimento das práticas deste em relação ao contexto histórico cultural que o Brasil viveu desde a ditadura, passando pelo processo de redemocratização política e o desenvolvimento das visões atuais de aprendizado desportivo e da cultura sob ponto de vista do culturalismo antropológico. Sob a ótica do antropólogo americano Clifford Geertz, que toma a cultura como um sistema de signos significantes do qual os indivíduos compartilham vinculamos as concepções sob a profissão supracitada de autores e documentos de destaque na área. Construímos uma breve reflexão sobre a prática esportiva como elemento de formação da cultura, apontando para uma relação circular: esporte é cultura, assim como a cultura define o esporte.This work deals with legal and professional conceptions of the Physical Education and sport in higher education and its relationship with the culture. The main idea of this subject is to insert the professional of Physical Education in higher education and the development of this practical in relation with historical cultural context that Brazil lived since the dictatorship. This process started with the redemocratization politics process and the development of the new visions of porting learning and the culture under the point of view of the anthropologic culturalism. Under the optics of american anthropologist Clifford Geertz, who treats the culture as a system of significant signs of which the individuals share, we tried to construct an interpretation of the above-mentioned profession, starting with authors and documents prominence in the sports field. We construct one brief reflection of the practical sportive as formation element of the culture, pointing a circular

  12. ACTN1 mutations cause congenital macrothrombocytopenia.

    Science.gov (United States)

    Kunishima, Shinji; Okuno, Yusuke; Yoshida, Kenichi; Shiraishi, Yuichi; Sanada, Masashi; Muramatsu, Hideki; Chiba, Kenichi; Tanaka, Hiroko; Miyazaki, Koji; Sakai, Michio; Ohtake, Masatoshi; Kobayashi, Ryoji; Iguchi, Akihiro; Niimi, Gen; Otsu, Makoto; Takahashi, Yoshiyuki; Miyano, Satoru; Saito, Hidehiko; Kojima, Seiji; Ogawa, Seishi

    2013-03-01

    Congenital macrothrombocytopenia (CMTP) is a heterogeneous group of rare platelet disorders characterized by a congenital reduction of platelet counts and abnormally large platelets, for which CMTP-causing mutations are only found in approximately half the cases. We herein performed whole-exome sequencing and targeted Sanger sequencing to identify mutations that cause CMTP, in which a dominant mode of transmission had been suspected but for which no known responsible mutations have been documented. In 13 Japanese CMTP-affected pedigrees, we identified six (46%) affected by ACTN1 variants cosegregating with CMTP. In the entire cohort, ACNT1 variants accounted for 5.5% of the dominant forms of CMTP cases and represented the fourth most common cause in Japanese individuals. Individuals with ACTN1 variants presented with moderate macrothrombocytopenia with anisocytosis but were either asymptomatic or had only a modest bleeding tendency. ACTN1 encodes α-actinin-1, a member of the actin-crosslinking protein superfamily that participates in the organization of the cytoskeleton. In vitro transfection experiments in Chinese hamster ovary cells demonstrated that altered α-actinin-1 disrupted the normal actin-based cytoskeletal structure. Moreover, transduction of mouse fetal liver-derived megakaryocytes with disease-associated ACTN1 variants caused a disorganized actin-based cytoskeleton in megakaryocytes, resulting in the production of abnormally large proplatelet tips, which were reduced in number. Our findings provide an insight into the pathogenesis of CMTP.

  13. Ichthyosis vulgaris: the filaggrin mutation disease.

    Science.gov (United States)

    Thyssen, J P; Godoy-Gijon, E; Elias, P M

    2013-06-01

    Ichthyosis vulgaris is caused by loss-of-function mutations in the filaggrin gene (FLG) and is characterized clinically by xerosis, scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders. According to the published studies presented in this review article, FLG mutations are observed in approximately 7·7% of Europeans and 3·0% of Asians, but appear to be infrequent in darker-skinned populations. This clinical review article provides an overview of ichthyosis vulgaris epidemiology, related disorders and pathomechanisms. Not only does ichthyosis vulgaris possess a wide clinical spectrum, recent studies suggest that carriers of FLG mutations may have a generally altered risk of developing common diseases, even beyond atopic disorders. Mechanistic studies have shown increased penetration of allergens and chemicals in filaggrin-deficient skin, and epidemiological studies have found higher levels of hand eczema, irritant contact dermatitis, nickel sensitization and serum vitamin D levels. When relevant, individuals should be informed about an increased risk of developing dermatitis when repeatedly or continuously exposed to nickel or irritants. Moreover, with our current knowledge, individuals with ichthyosis vulgaris should be protected against neonatal exposure to cats to prevent atopic dermatitis and should abstain from smoking to prevent asthma. Finally, they should be advised against excessive exposure to factors that decrease skin barrier functions and increase the risk of atopic dermatitis.

  14. [Forum: health and indigenous peoples in Brazil. Introduction].

    Science.gov (United States)

    Welch, James R

    2014-04-01

    This Forum on Health and Indigenous Peoples in Brazil explores contemporary challenges to indigenous health and health politics in Brazil. The short collection of articles that follow are based on presentations, originally given at the Indigenous Health Working Group panel at the 10th Brazilian Public Health Conference in Rio Grande do Sul State, by professors Carlos E. A. Coimbra Jr. (Escola Nacional de Saúde Pública, Fundação Oswaldo Cruz), Marina Denise Cardoso (Universidade Federal de São Carlos) and Eliana E. Diehl (Universidade Federal de Santa Catarina) with Marcos A. Pellegrini (Universidade Federal de Roraima). In this short Introduction, I introduce these contributions, taking as a point of reference a local example of healthcare inequity derived from a presentation at the same panel by Paulo F. Supretaprã, indigenous community leader from Etênhiritipá village, Mato Grosso State.

  15. Local content in Brazil: conceptual framework and methodological implications

    Directory of Open Access Journals (Sweden)

    Tori Holmes

    2009-05-01

    Full Text Available This article presents work in progress from PhD research investigating the use of the internet in the favelas (shantytowns of Rio de Janeiro, Brazil, with a particular focus on the internet content produced and shared by those who live there. The research proposes to apply the concept of local content beyond the scope of digital inclusion policy and projects, to content generated in everyday practices of internet use. The article presents an overview of internet access in Brazil and discussion of the conceptual and methodological issues raised by the interest in local content, understood as "the expression of the locally owned and adapted knowledge of a community - where the community is defined by its location, culture, language, or area of interest" according to a definition proposed by Ballantyne (2002.

  16. [Antidotes and medicines used to treat poisoning in Brazil: needs, availability and opportunities].

    Science.gov (United States)

    Galvão, Tais F; Bucaretchi, Fabio; De Capitani, Eduardo M; Pereira, Maurício G; Silva, Marcus T

    2013-11-01

    Antidotes and certain other drugs are essential for treating some types of poisoning. Failures in their supply can jeopardize the population's health and safety. The current study aimed to assess the availability of antidotes and other drugs used in the treatment of poisonings in Brazil. International guidelines were used as the basis for selecting 41 antidotes for analysis, none of which currently protected by patents. Of these, 27 are registered in Brazil, but 11 of these are available in inadequate forms for treating poisoning, leaving 16 commercially available antidotes. Only one-third of the drugs needed for treating poisoning are included in the country's list of essential drugs. The article also presents a proposal for supplying the demand for one of the antidotes, anti-digoxin antibody, considering Brazil's domestic capacity for manufacturing immunobiologicals. The study's results show the limitations to adequate treatment for poison victims in Brazil and reinforce the urgent need to strengthen public policies in this area.

  17. cDNA sequencing improves the detection of P53 missense mutations in colorectal cancer

    Directory of Open Access Journals (Sweden)

    Jesionek-Kupnicka Dorota

    2009-08-01

    Full Text Available Abstract Background Recently published data showed discrepancies beteween P53 cDNA and DNA sequencing in glioblastomas. We hypothesised that similar discrepancies may be observed in other human cancers. Methods To this end, we analyzed 23 colorectal cancers for P53 mutations and gene expression using both DNA and cDNA sequencing, real-time PCR and immunohistochemistry. Results We found P53 gene mutations in 16 cases (15 missense and 1 nonsense. Two of the 15 cases with missense mutations showed alterations based only on cDNA, and not DNA sequencing. Moreover, in 6 of the 15 cases with a cDNA mutation those mutations were difficult to detect in the DNA sequencing, so the results of DNA analysis alone could be misinterpreted if the cDNA sequencing results had not also been available. In all those 15 cases, we observed a higher ratio of the mutated to the wild type template by cDNA analysis, but not by the DNA analysis. Interestingly, a similar overexpression of P53 mRNA was present in samples with and without P53 mutations. Conclusion In terms of colorectal cancer, those discrepancies might be explained under three conditions: 1, overexpression of mutated P53 mRNA in cancer cells as compared with normal cells; 2, a higher content of cells without P53 mutation (normal cells and cells showing K-RAS and/or APC but not P53 mutation in samples presenting P53 mutation; 3, heterozygous or hemizygous mutations of P53 gene. Additionally, for heterozygous mutations unknown mechanism(s causing selective overproduction of mutated allele should also be considered. Our data offer new clues for studying discrepancy in P53 cDNA and DNA sequencing analysis.

  18. Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing.

    Science.gov (United States)

    Narumi, Satoshi; Matsuo, Kumihiro; Ishii, Tomohiro; Tanahashi, Yusuke; Hasegawa, Tomonobu

    2013-01-01

    Somatic activating GNAS mutations cause McCune-Albright syndrome (MAS). Owing to low mutation abundance, mutant-specific enrichment procedures, such as the peptide nucleic acid (PNA) method, are required to detect mutations in peripheral blood. Next generation sequencing (NGS) can analyze millions of PCR amplicons independently, thus it is expected to detect low-abundance GNAS mutations quantitatively. In the present study, we aimed to develop an NGS-based method to detect low-abundance somatic GNAS mutations. PCR amplicons encompassing exons 8 and 9 of GNAS, in which most activating mutations occur, were sequenced on the MiSeq instrument. As expected, our NGS-based method could sequence the GNAS locus with very high read depth (approximately 100,000) and low error rate. A serial dilution study with use of cloned mutant and wildtype DNA samples showed a linear correlation between dilution and measured mutation abundance, indicating the reliability of quantification of the mutation. Using the serially diluted samples, the detection limits of three mutation detection methods (the PNA method, NGS, and combinatory use of PNA and NGS [PNA-NGS]) were determined. The lowest detectable mutation abundance was 1% for the PNA method, 0.03% for NGS and 0.01% for PNA-NGS. Finally, we analyzed 16 MAS patient-derived leukocytic DNA samples with the three methods, and compared the mutation detection rate of them. Mutation detection rate of the PNA method, NGS and PNA-NGS in 16 patient-derived peripheral blood samples were 56%, 63% and 75%, respectively. In conclusion, NGS can detect somatic activating GNAS mutations quantitatively and sensitively from peripheral blood samples. At present, the PNA-NGS method is likely the most sensitive method to detect low-abundance GNAS mutation.

  19. Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing.

    Directory of Open Access Journals (Sweden)

    Satoshi Narumi

    Full Text Available Somatic activating GNAS mutations cause McCune-Albright syndrome (MAS. Owing to low mutation abundance, mutant-specific enrichment procedures, such as the peptide nucleic acid (PNA method, are required to detect mutations in peripheral blood. Next generation sequencing (NGS can analyze millions of PCR amplicons independently, thus it is expected to detect low-abundance GNAS mutations quantitatively. In the present study, we aimed to develop an NGS-based method to detect low-abundance somatic GNAS mutations. PCR amplicons encompassing exons 8 and 9 of GNAS, in which most activating mutations occur, were sequenced on the MiSeq instrument. As expected, our NGS-based method could sequence the GNAS locus with very high read depth (approximately 100,000 and low error rate. A serial dilution study with use of cloned mutant and wildtype DNA samples showed a linear correlation between dilution and measured mutation abundance, indicating the reliability of quantification of the mutation. Using the serially diluted samples, the detection limits of three mutation detection methods (the PNA method, NGS, and combinatory use of PNA and NGS [PNA-NGS] were determined. The lowest detectable mutation abundance was 1% for the PNA method, 0.03% for NGS and 0.01% for PNA-NGS. Finally, we analyzed 16 MAS patient-derived leukocytic DNA samples with the three methods, and compared the mutation detection rate of them. Mutation detection rate of the PNA method, NGS and PNA-NGS in 16 patient-derived peripheral blood samples were 56%, 63% and 75%, respectively. In conclusion, NGS can detect somatic activating GNAS mutations quantitatively and sensitively from peripheral blood samples. At present, the PNA-NGS method is likely the most sensitive method to detect low-abundance GNAS mutation.

  20. Rare adverse events associated with oral poliovirus vaccine in Brazil

    Directory of Open Access Journals (Sweden)

    Friedrich F.

    1997-01-01

    Full Text Available Oral poliovirus vaccine (OPV developed by A. Sabin has been effectively used to control poliomyelitis in Brazil, and the last case with the isolation of a wild poliovirus strain occurred in March 1989. Although the vaccine controlled the circulation of wild strains and poliomyelitis cases associated with these strains were not detected during the last eight years, rare cases classified as vaccine-associated paralytic poliomyelitis (VAPP have been detected. Molecular characterization studies of poliovirus strains isolated from VAPP cases and from healthy contacts have confirmed that the isolates are derived from the Sabin vaccine strains and also detected genomic modifications known or suspected to increase neurovirulence such as mutations and recombination. The molecular characterization of polioviruses isolated during the last eight years from paralysis cases classified as Guillain-Barré (GBS syndrome and transverse myelitits (TM, and from facial paralysis (FP cases also confirmed the vaccine origin of the strains and demonstrated mutations known to increase neurovirulence. Analysis of the epidemiologic data of these GBS, TM and FP cases demonstrated that in most of them the last OPV dose was given months or years before the onset of the disease and the isolation of the polioviruses. The temporal association between the isolation of these strains and the GBS, TM and FP suggested that the Sabin vaccine-derived poliovirus strains could also rarely trigger the diseases.

  1. Crucial differences between undergraduate biochemical education in Brazil and developed countries: history and perspectives - (Symposium SBBq Brazil

    Directory of Open Access Journals (Sweden)

    A. Bracht

    2013-05-01

    Full Text Available The crucial difference between the biochemical education in Brazil and more developed countries resides not in the highest degrees but inthe lowest ones: the bachelor degree in Biochemistry is still a rarity in Brazil. Whereas more than 600 institutions in the US offer the bachelor degree in biochemistry/molecularbiology, presently only 3 are offered in Brazil. This situation may be surprising, but ithas historical reasons among others. The field of Biochemistry in Brazil played a pioneering role in institutionalizing master’s and doctoral programs, thus reinforcing also research activities. Teachers and researchers involved in these programs, however, had in general little if any interest in implementing undergraduate biochemistry studies, except as a fundamental one year discipline to be taken by future biologists, pharmacists, medical students, etc. The second reason for the virtual absence of the biochemistry bachelor degree before 2005 in Brazil are the so called baccalaureates in “Pharmacy and Biochemistry” a strange denomination whose more correct name should be “Pharmacy and Clinical Analyses”. This situation generated the notion, within and outside academic circles, that there is a very especial relationship between Pharmacy and Biochemistry or even that they are one and the same thing. These and other erroneous notions have proven to be adverse for the brazilian biochemistry in both professionaland academic spheres, especially in more recent times when the master’s and doctoral programs ceased to offer the more basic disciplines. Many graduates with a master’s or even doctoral degree have a highly defficient background on physical and organic chemistry, or even on metabolic biochemistry and enzymology if the program is centered on molecular biology.

  2. FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature

    DEFF Research Database (Denmark)

    Blomberg, M; Jeppesen, E M; Skovby, F

    2010-01-01

    developed acanthosis nigricans. The report of a K650Q mutation in the FGFR3 gene in a similar case prompted us to conduct a point mutation analysis. The K650Q mutation was confirmed, but in contrast to the previous case, we additionally report findings of hyperinsulinemia. In the recent literature...... keratoses and epidermal nevi, but also other benign skin tumors and a single case of a squamous cell carcinoma. In addition, an overview of the FGFR3 point mutations in relation to each cutaneous element is given. Based on the current knowledge, it seems likely that these cutaneous lesions have a common......Fibroblast growth factor receptor 3 (FGFR3) gene mutations in the germline are well-known causes of skeletal syndromes. Somatic FGFR3 mutations have been found in malignant neoplasms and more recently in several cutaneous elements. We present a 14-year-old girl with mild hypochondroplasia who...

  3. Full Time School in Brazil: Policy, Curriculum and Pedagogic Challenges

    Directory of Open Access Journals (Sweden)

    Sandra Valéria Valéria

    2013-06-01

    Full Text Available This article aims to discuss the project of integral education and full time school which is under construction in Brazil, linking history and policy to thinking the curriculum and pedagogical work in schools for extended journey. The analyzes presented here are the resulted synthesis of two completed researches and another two ongoing, concerning policy and processes of teaching and learning in public full time schools.

  4. KEY RECENT EXPERIENCES IN THE APPLICATION OF SEA IN BRAZIL

    OpenAIRE

    2014-01-01

    One of the requirements for a good Strategic Environmental Assessment (SEA) is its capacity to adjust itself to the planned decision-making process. This paper presents recent experiences involving the application of SEA in Brazil in three different contexts. In the first case, an SEA was conducted to meet a request of the Ministry of Tourism for information to prepare the Development Plan for Sustainable Tourism in the North Coast. The second case is an initiative undertaken by the Secretary...

  5. [Evaluation of the quality of birth registration data in Brazil].

    Science.gov (United States)

    Gadelha, R J

    1982-01-01

    Preliminary evaluation of the quality of data published in "Estatisticas do Registro Civil, 1974-79" (Vital Registration Statistics, 1974-79) concerning children ever born in Brazil and its states is presented. Qualitative analysis of these variables is included: time period between date of birth and date of registration, mother's permanent place of birth, type of delivery, sex, and mother's age at time of delivery. (author's modified)

  6. Growing knowledge: an overview of Seed Plant diversity in Brazil

    OpenAIRE

    Zappi, Daniela C.; Filardi,Fabiana L. Ranzato; Leitman,Paula; Souza, Vinícius C.; Bruno M. T. Walter; José R. Pirani; Morim,Marli P.; de Queiroz, Luciano P.; Cavalcanti,Taciana B.; Mansano, Vidal F.; Forzza,Rafaela C.; Abreu,Maria C.; Acevedo-Rodríguez, Pedro; Agra,Maria de F.; Almeida Jr.,Eduardo B.

    2016-01-01

    An updated inventory of Brazilian seed plants is presented and offers important insights into the country’s biodiversity. This work started in 2010, with the publication of the Plants and Fungi Catalogue, and has been updated since by more than 430 specialists working online. Brazil is home to 32,086 native Angiosperms and 23 native Gymnosperms, showing an increase of 3% in its species richness in relation to 2010. The Amazon Rainforest is the richest Brazilian biome for Gymnosperms, while th...

  7. New data on freshwater psammic Gastrotricha from Brazil

    OpenAIRE

    André Rinaldo Garraffoni; Thiago Araujo; Anete Lourenço; Maria Balsamo

    2010-01-01

    Current knowledge of freshwater gastrotrich fauna from Brazil is underestimated as only two studies are available. The present communication is a taxonomic account of the first-ever survey of freshwater Gastrotricha in Minas Gerais State. Samplings were carried out yielding six species of three Chaetonotidae genera: Aspidiophorus cf. pleustonicus, Ichthydium cf. chaetiferum, Chaetonotus acanthocephalus, C. heideri, C. cf. succinctus, Chaetonotus sp., and also an undescribed species belonging ...

  8. New data on freshwater psammic Gastrotricha from Brazil

    OpenAIRE

    André R. S. Garraffoni; Araujo, Thiago Q.; Lourenço, Anete P.; Balsamo, Maria

    2010-01-01

    Abstract Current knowledge of freshwater gastrotrich fauna from Brazil is underestimated as only two studies are available. The present communication is a taxonomic account of the first-ever survey of freshwater Gastrotricha in Minas Gerais State. Samplings were carried out yielding six species of three Chaetonotidae genera: Aspidiophorus cf. pleustonicus, Ichthydium cf. chaetiferum, Chaetonotus acanthocephalus, Chaetonotus heideri, Chaetonotus cf. succinctus, Chaetonotus sp., and also an und...

  9. Considerations on the food fortification policy in Brazil

    OpenAIRE

    José Murilo Martins

    2011-01-01

    Government health authorities approved, in December 2002, the ANVISA (National Sanitary Vigilance Agency) resolution number 344, making the addition of iron and folic acid to all wheat and maize flours industrialized in Brazil obligatory. After a brief review of iron deficiency, iron overload and folic acid deficiency several questions and remarks need to be made about this universal food fortification program. Iron salts and folic acid are drugs widely used in medicine and they may present u...

  10. Prevalence of mitochondrial DNA mutations in sporadic patients with nonsyndromic sensorineural hearing loss

    Directory of Open Access Journals (Sweden)

    Hua Jiang

    Full Text Available ABSTRACT INTRODUCTION: Several mitochondrial DNA mutations have been reported to be associated with nonsyndromic hearing loss in several families. However, little is known about the prevalence of these mutations in sporadic patients with nonsyndromic sensorineural hearing loss. OBJECTIVE: The purpose of our study was to investigate the incidence of these mitochondrial DNA mutations in such population. METHODS: A total of 178 sporadic patients with nonsyndromic sensorineural hearing loss were enrolled in this study. Genomic DNA was extracted from the peripheral blood sample. We employed the SNaPshot(r sequencing method to detect five mitochondrial DNA mutations, including A1555G and A827G in 12S rRNA gene and A7445G, 7472insC, and T7511C in tRNASerUCN gene. Meanwhile, we used polymerase chain reaction and sequenced the products to screen GJB2 gene mutations in patients carrying mitochondrial DNA mutations. RESULTS: We failed to detect the presence of A1555G mutation in 12S rRNA gene, and of A7445G, 7472insC, T7511C mutations in tRNASerUCN gene in our population. However, we found that 6 patients (3.37% were carriers of a homozygous A827G mutation and one of them also carried homozygous GJB2 235delC mutation. CONCLUSION: Our findings in the present study indicate that even in sporadic patients with nonsyndromic sensorineural hearing loss, mitochondrial DNA mutations might also contribute to the clinical phenotype.

  11. A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and Low Expressivity

    Directory of Open Access Journals (Sweden)

    Paal Skytt Andersen

    2012-01-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is caused by mutations in genes encoding sarcomere proteins. Mutations in MYL3, encoding the essential light chain of myosin, are rare and have been associated with sudden death. Both recessive and dominant patterns of inheritance have been suggested. We studied a large family with a 38-year-old asymptomatic HCM-affected male referred because of a murmur. The patient had HCM with left ventricular hypertrophy (max WT 21 mm, a resting left ventricular outflow gradient of 36 mm Hg, and left atrial dilation (54 mm. Genotyping revealed heterozygosity for a novel missense mutation, p.V79I, in MYL3. The mutation was not found in 300 controls, and the patient had no mutations in 10 sarcomere genes. Cascade screening revealed a further nine heterozygote mutation carriers, three of whom had ECG and/or echocardiographic abnormalities but did not fulfil diagnostic criteria for HCM. The penetrance, if we consider this borderline HCM the phenotype of the p.V79I mutation, was 40%, but the mean age of the nonpenetrant mutation carriers is 15, while the mean age of the penetrant mutation carriers is 47. The mutation affects a conserved valine replacing it with a larger isoleucine residue in the region of contact between the light chain and the myosin lever arm. In conclusion, MYL3 mutations can present with low expressivity and late onset.

  12. Pedigree and genetic analysis of a novel mutation carrier patient suffering from hereditary nonpolyposis colorectal cancer

    Institute of Scientific and Technical Information of China (English)

    Miklós Tanyi; László Damjanovich; Judith Olasz; Géza Lukács; Orsolya Csuka; László Tóth; Zoltán Szentirmay; Zsuzsa Ress; Zsolt Barta; János L Tanyi

    2006-01-01

    AIM: To screen a suspected Hungarian HNPCC family to find specific mutations and to evaluate their effect on the presentation of the disease.METHODS: The family was identified by applying the Amsterdam and Bethesda Criteria. Immunohistoche-mistry was performed, and DNA samples isolated from tumor tissue were evaluated for microsatellite instability.The identification of possible mutations was carried out by sequencing the hMLH1 and hMSH2 genes.RESULTS: Two different mutations were observed in the index patient and in his family members. The first mutation was located in exon 7, codon 422 of hMSH2,and caused a change from Glu to STOP codon. No other report of such a mutation has been published, as far as we could find in the international databases. The second mutation was found in exon 3 codon 127 of the hMSH2 gene, resulting in Asp→Ser substitution. The second mutation was already published, as a non-pathogenic allelic variation.CONCLUSION: The pedigree analysis suggested that the newly detected nonsense mutation in exon 7 of the hMSH2 gene might be responsible for the development of colon cancers. Tn family members where the exon 7mutation is not coupled with this missense mutation, colon cancer appears after the age of 40. The association of these two mutations seems to decrease the age of manifestation of the disease into the early thirties.

  13. TERT promoter mutations in sinonasal malignant melanoma: a study of 49 cases.

    Science.gov (United States)

    Jangard, Mattias; Zebary, Abdlsattar; Ragnarsson-Olding, Boel; Hansson, Johan

    2015-06-01

    Sinonasal malignant melanoma (SNMM) comprises less than 1% of all melanomas and is located in the nasal cavity and the paranasal sinuses. The majority of SNMMs have unknown underlying oncogenic driver mutations. The recent identification of a high frequency of driver mutations in the promoter of the telomerase reverse transcriptase (TERT) gene in cutaneous melanoma led us to investigate whether these mutations also occur in SNMM. Our aim was to determine the TERT promoter mutation frequencies in primary SNMMs. Laser capture microdissection and manual dissection were used to isolate tumour cells from 49 formalin-fixed paraffin-embedded tissues. The tumours were screened for TERT promoter mutations by direct Sanger sequencing. Information on NRAS, BRAF and KIT mutation was available from an earlier study. Overall, 8% (4/49) of SNMMs harboured TERT promoter mutations. One of these mutated tumours had a coexistent NRAS mutation and one had a BRAF mutation. Our findings show that TERT promoter mutations are present in a moderate proportion of SNMM. No conclusion can be drawn on their potential influence on the clinical outcome or tumour progression.

  14. TP53 mutations predict decitabine-induced complete responses in patients with myelodysplastic syndromes.

    Science.gov (United States)

    Chang, Chun-Kang; Zhao, You-Shan; Xu, Feng; Guo, Juan; Zhang, Zheng; He, Qi; Wu, Dong; Wu, Ling-Yun; Su, Ji-Ying; Song, Lu-Xi; Xiao, Chao; Li, Xiao

    2017-02-01

    To identify the molecular signatures that predict responses to decitabine (DAC), we examined baseline gene mutations (28 target genes) in 109 myelodysplastic syndrome (MDS) patients at diagnosis. We determined that TP53 mutations predicted complete response (CR), as 10 of 15 patients (66·7%) who possessed TP53 mutations achieved a CR. Univariate and multivariate analyses showed that TP53 mutations are the only molecular signatures predictive of a CR to DAC in MDS. Among the ten patients with TP53 mutations who achieved a CR, nine presented with complex karyotypes due to abnormalities involving chromosome 5 and/or chromosome 7, and eight possessed monosomies. Although TP53 mutations were associated with a higher frequency of CRs, they were not associated with improved survival. Poor outcomes were attributed to early relapses and transformation to acute myeloid leukaemia after CR. Post-DAC therapy patient gene mutation profiles showed that most CR patients exhibited fewer gene mutations after achieving a CR. It seems that suppression of these gene mutations was facilitated by DAC, resulting in a CR. In summary, TP53 mutations might predict decitabine-induced complete responses in patients with MDS. DAC-induced responses may result from partial suppression of malignant clones containing mutated TP53 genes.

  15. Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.

    Directory of Open Access Journals (Sweden)

    Maiko Miyagawa

    Full Text Available Screening for gene mutations in CDH23, which has many exons, has lagged even though it is likely to be an important cause for hearing loss patients. To assess the importance of CDH23 mutations in non-syndromic hearing loss, two-step screening was applied and clinical characteristics of the patients with CDH23 mutations were examined in this study. As a first screening, we performed Sanger sequencing using 304 probands compatible with recessive inheritance to find the pathologic mutations. Twenty-six possible mutations were detected to be pathologic in the first screening. For the second screening, using the probes for these 26 mutations, a large cohort of probands (n = 1396 was screened using Taqman amplification-based mutation analysis followed by Sanger sequencing. The hearing loss in a total of 52 families (10 homozygous, 13 compound heterogygous, and 29 heterozygous was found to be caused by the CDH23 mutations. The majority of the patients showed congenital, high frequency involved, progressive hearing loss. Interestingly, some particular mutations cause late onset moderate hearing loss. The present study is the first to demonstrate the prevalence of CDH23 mutations among non-syndromic hearing loss patients and indicated that mutations of the CDH23 gene are an important cause of non-syndromic hearing loss.

  16. High Resolution Melting Analysis: A Rapid and Accurate Method to Detect CALR Mutations

    Science.gov (United States)

    Moreno, Melania; Torres, Laura; Santana-Lopez, Gonzalo; Rodriguez-Medina, Carlos; Perera, María; Bellosillo, Beatriz; de la Iglesia, Silvia; Molero, Teresa; Gomez-Casares, Maria Teresa

    2014-01-01

    Background The recent discovery of CALR mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients without JAK2/MPL mutations has emerged as a relevant finding for the molecular diagnosis of these myeloproliferative neoplasms (MPN). We tested the feasibility of high-resolution melting (HRM) as a screening method for rapid detection of CALR mutations. Methods CALR was studied in wild-type JAK2/MPL patients including 34 ET, 21 persistent thrombocytosis suggestive of MPN and 98 suspected secondary thrombocytosis. CALR mutation analysis was performed through HRM and Sanger sequencing. We compared clinical features of CALR-mutated versus 45 JAK2/MPL-mutated subjects in ET. Results Nineteen samples showed distinct HRM patterns from wild-type. Of them, 18 were mutations and one a polymorphism as confirmed by direct sequencing. CALR mutations were present in 44% of ET (15/34), 14% of persistent thrombocytosis suggestive of MPN (3/21) and none of the secondary thrombocytosis (0/98). Of the 18 mutants, 9 were 52 bp deletions, 8 were 5 bp insertions and other was a complex mutation with insertion/deletion. No mutations were found after sequencing analysis of 45 samples displaying wild-type HRM curves. HRM technique was reproducible, no false positive or negative were detected and the limit of detection was of 3%. Conclusions This study establishes a sensitive, reliable and rapid HRM method to screen for the presence of CALR mutations. PMID:25068507

  17. High resolution melting analysis: a rapid and accurate method to detect CALR mutations.

    Directory of Open Access Journals (Sweden)

    Cristina Bilbao-Sieyro

    Full Text Available The recent discovery of CALR mutations in essential thrombocythemia (ET and primary myelofibrosis (PMF patients without JAK2/MPL mutations has emerged as a relevant finding for the molecular diagnosis of these myeloproliferative neoplasms (MPN. We tested the feasibility of high-resolution melting (HRM as a screening method for rapid detection of CALR mutations.CALR was studied in wild-type JAK2/MPL patients including 34 ET, 21 persistent thrombocytosis suggestive of MPN and 98 suspected secondary thrombocytosis. CALR mutation analysis was performed through HRM and Sanger sequencing. We compared clinical features of CALR-mutated versus 45 JAK2/MPL-mutated subjects in ET.Nineteen samples showed distinct HRM patterns from wild-type. Of them, 18 were mutations and one a polymorphism as confirmed by direct sequencing. CALR mutations were present in 44% of ET (15/34, 14% of persistent thrombocytosis suggestive of MPN (3/21 and none of the secondary thrombocytosis (0/98. Of the 18 mutants, 9 were 52 bp deletions, 8 were 5 bp insertions and other was a complex mutation with insertion/deletion. No mutations were found after sequencing analysis of 45 samples displaying wild-type HRM curves. HRM technique was reproducible, no false positive or negative were detected and the limit of detection was of 3%.This study establishes a sensitive, reliable and rapid HRM method to screen for the presence of CALR mutations.

  18. Neuropsychological manifestations of the genetic mutation for Huntington's disease in presymptomatic individuals.

    Science.gov (United States)

    Brandt, Jason; Shpritz, Barnett; Codori, Ann Marie; Margolis, Russell; Rosenblatt, Adam

    2002-11-01

    A triplet repeat (CAG) expansion mutation in the huntingtin gene on chromosome 4 is responsible for Huntington's disease (HD). Presymptomatic genetic testing for this mutation has identified clinically normal persons who are virtually certain to develop this dementing illness if they live a normal lifespan. The present study sought to determine whether these "mutation-positive" persons have impairments in cognitive functioning. Seventy-five mutation-positive persons did not differ from 128 mutation-negative persons on tests selected for their sensitivity to early-stage HD. Interestingly, however, those with the mutation viewed themselves as more likely to develop HD than did those without the mutation. Among mutation-positive subjects, having a longer CAG repeat mutation was likewise not associated with cognitive impairment. However, being closer to estimated disease onset (a product of repeat length and parent's age at onset) was associated with selected cognitive impairments. When viewed in light of previous studies showing atrophy of the caudate nucleus and putamen in mutation-carriers who are close to onset but not those far from onset, these results suggest that subtle changes in brain and behavior may be detected shortly before subjects with the HD mutation develop sufficient signs and symptoms for diagnosis. Conceptual and methodological problems associated with the search for presymptomatic cognitive and behavioral indicators of dementing illness are discussed.

  19. Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

    NARCIS (Netherlands)

    Wortmann, S.B.; Champion, M.P.; Heuvel, L.P. van den; Barth, H.; Trutnau, B.; Craig, K.; Lammens, M.M.; Schreuder, M.F.; Taylor, R.W.; Smeitink, J.A.M.; Wevers, R.A.; Rodenburg, R.J.T.; Morava, E.

    2012-01-01

    We present two new patients with the recently described mitochondrial m.3242G > A mutation. Although the mutation is situated next to the well known m.3243A > G mutation, the most common alteration associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode

  20. A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome

    DEFF Research Database (Denmark)

    Duno, Morten; Wibrand, Flemming; Baggesen, Kirsten

    2013-01-01

    mitochondrial point mutation, m.8989G>C, in a patient presenting with neuropathy, ataxia and retinitis pigmentosa constituting the classical NARP phenotype. This mutation alters the amino acid right next to canonical NARP mutation. We suggest that classic NARP syndrome relates to a defined dysfunction of p...