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1.
In vitro activity of Schinus terebinthifolius extract and fractions against Sporothrix brasiliensis
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Almeida-Silva, Fernando
; Bernardes-Engemann, Andrea Reis
; Bérenger, Ana Luiza Rangel
; da Silva, Vagner Pereira
; Figueiredo, Maria Raquel
; Freitas, Dayvison Francis Saraiva
.
BACKGROUND Sporothrix brasiliensis is the causative agent of zoonotic cases of sporotrichosis in Brazil and is associated with atypical and severe presentations in cats, dogs, and humans. Sporotrichosis treatment is usually time- and cost-consuming, sometimes with poor response and host toxicity. Schinus terebinthifolius has proven efficacy against bacteria and fungi of clinical interest. OBJECTIVE To determine the in vitro activity of S. terebinthifolius against S. brasiliensis. METHODS Five S. brasiliensis isolates and three reference strains were subjected to a hydroethanol extract derived from the leaves of S. terebinthifolius and its fractions. The minimal inhibitory concentration (MIC) was determined using the broth microdilution method according to the M38-A2 CLSI guidelines. Also, the fungicidal/fungistatic activity of the extract and fractions was studied. FINDINGS The crude extract of S. terebinthifolius inhibited the growth of S. brasiliensis (MIC: 0.5-1.0 µg/mL), while the partitioned extracts dichloromethane, ethyl acetate, and butanol demonstrated growth inhibition at 8 µg/mL due to a fungistatic activity. MAIN CONCLUSIONS Due to its in vitro efficacy against S. brasiliensis and its known pharmacological safety, S. terebinthifolius is a candidate to be tested using in vivo models of sporotrichosis.
2.
Free carnitine and branched chain amino acids are not good biomarkers in Huntington’s disease
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CASTILHOS, Raphael Machado
; AUGUSTIN, Marina Coutinho
; SANTOS, José Augusto dos
; PEDROSO, José Luiz
; BARSOTTINI, Orlando
; SABA, Roberta
; FERRAZ, Henrique Ballalai
; VARGAS, Fernando Regla
; FURTADO, Gabriel Vasata
; Polese-BONATTO, Marcia
; RODRIGUES, Luiza Paulsen
; SENA, Lucas Schenatto
; VARGAS, Carmen Regla
; SARAIVA-PEREIRA, Maria Luiza
; JARDIM, Laura Bannach
; NEUROGENÉTICA, Rede
.
RESUMO Introdução: A doença de Huntington (DH), causada por uma repetição CAG expandida no HTT, não possui tratamento e biomarcadores são necessários para futuros ensaios clínicos. Objetivo: Nosso objetivo foi verificar se os níveis de carnitina livre e aminoácidos de cadeia ramificada se comportam como potenciais biomarcadores na DH. Métodos: Portadores sintomáticos e assintomáticos e controles foram recrutados. Idade, sexo, índice de massa corporal (IMC), idade de início, duração da doença, escores UHDRS e trato CAG expandido foram obtidos; valina, leucina, isoleucina e carnitina livre foram medidas. Foram realizadas análises basal e longitudinal. Resultados: Setenta e quatro portadores sintomáticos, 20 portadores assintomáticos e 22 não portadores foram incluídos. No início do estudo, os níveis de valina estavam reduzidos em portadores de DH sintomáticos e assintomáticos quando comparados aos não portadores. Não foram observadas diferenças nos níveis de carnitina livre ou isoleucina + leucina entre os grupos. O IMC dos indivíduos sintomáticos foi menor que o dos não portadores. Níveis de valina correlacionaram-se com o IMC. Avaliação de acompanhamento foi realizada em 43 indivíduos sintomáticos. A pontuação do escore motor total da UHDRS aumentou 4,8 pontos/ano em média. Não foram observadas reduções significativas no IMC ou na valina, enquanto os níveis de carnitina livre e isoleucina+leucina aumentaram. Conclusões: Embora os níveis de valina tenham sido menores nos portadores de DH e estivessem relacionados às perdas de IMC observadas em indivíduos pré-sintomáticos, nenhum desses metabólitos parece ser biomarcador para a DH.
ABSTRACT Background: Huntington’s disease (HD), caused by an expanded CAG repeat at HTT, has no treatment, and biomarkers are needed for future clinical trials. Objective: The objective of this study was to verify if free carnitine and branched chain amino acids levels behave as potential biomarkers in HD. Methods: Symptomatic and asymptomatic HD carriers and controls were recruited. Age, sex, body mass index (BMI), age of onset, disease duration, UHDRS scores, and expanded CAG tract were obtained; valine, leucine, isoleucine, and free carnitine were measured. Baseline and longitudinal analysis were performed. Results: Seventy-four symptomatic carriers, 20 asymptomatic carriers, and 22 non-carriers were included. At baseline, valine levels were reduced in symptomatic and asymptomatic HD carriers when compared to non-carriers. No difference in free carnitine or isoleucine+leucine levels were observed between groups. BMI of symptomatic individuals was lower than those of non-carriers. Valine levels correlated with BMI. Follow-up evaluation was performed in 43 symptomatic individuals. UHDRS total motor score increased 4.8 points/year on average. No significant reductions in BMI or valine were observed, whereas free carnitine and isoleucine+leucine levels increased. Conclusions: Although valine levels were lower in HD carriers and were related to BMI losses observed in pre-symptomatic individuals, none of these metabolites seem to be biomarkers for HD.
https://doi.org/10.1590/0004-282x20190152
937 downloads
3.
Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
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Castilhos, Raphael Machado de
; Santos, José Augusto dos
; Augustin, Marina Coutinho
; Pedroso, José Luiz
; Barsottini, Orlando
; Saba, Roberta
; Ferraz, Henrique Ballalai
; Godeiro Junior, Clécio
; Vargas, Fernando Regla
; Salarini, Diego Zanotti
; Furtado, Gabriel Vasata
; Polese-Bonatto, Marcia
; Rodrigues, Luiza Paulsen
; Sena, Lucas Schenatto
; Saraiva-Pereira, Maria Luiza
; Jardim, Laura Bannach
.
Abstract Huntington’s disease (HD) is due to dominant expansions of the CAG repeat of the HTT gene. Meiotic instability of the (CAG)n might impact the disorder frequency. We report on HD minimal prevalence in Rio Grande do Sul (RS) state, Brazil, and on intergenerational instability of the (CAG)n in HD families. Symptomatic and at-risk subjects from 179 HD families were ascertained between 2013 and 2016. Clinical, molecular and family history data were obtained. Expanded (CAG)n length differences between parent and child (delta-expanded-(CAG)n) were calculated. Effect of parental age on the (CAG)n instability upon transmission was inferred by correlating delta-expanded-(CAG)n between siblings to their age differences. HD minimal prevalence in RS state was estimated as 1.85:100,000 inhabitants. Alleles with (CAG)27-35 were found on 21/384 non-disease associated chromosomes (5.5%); among 253 expanded alleles, four (1.6%) were within reduced penetrance range with (CAG)36-39. In 32 direct transmissions, mean instability was larger among paternal than maternal transmissions. In direct transmissions and in 51 sibling pairs, parental age at the time of child birth were not correlated with delta-expanded-(CAG)n. Briefly, HD prevalence in RS state was lower than those reported for European populations. Expanded (CAG)n transmissions were unstable and not associated to parental age.
https://doi.org/10.1590/1678-4685-gmb-2018-0032
1288 downloads
4.
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders
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Málaga, Diana Rojas
; Brusius-Facchin, Ana Carolina
; Siebert, Marina
; Pasqualim, Gabriela
; Saraiva-Pereira, Maria Luiza
; Souza, Carolina F.M de
; Schwartz, Ida V.D.
; Matte, Ursula
; Giugliani, Roberto
.
Abstract Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in phenotype penetrance, similar clinical manifestations, and a high allelic heterogeneity. A powerful tool for the diagnosis of the disease could reduce the “diagnostic odyssey” for affected families, leading to an appropriate genetic counseling and a better outcome for current therapies, since enzyme replacement therapies have been approved in Brazil for Gaucher, Fabry, and Pompe diseases, and are under development for Niemann-Pick Type B. However, application of next-generation sequencing (NGS) technology in the clinical diagnostic setting requires a previous validation phase. Here, we assessed the application of this technology as a fast, accurate, and cost-effective method to determine genetic diagnosis in selected LSDs. We have designed two panels for testing simultaneously 11 genes known to harbor casual mutations of LSDs. A cohort of 58 patients was used to validate those two panels, and the clinical utility of these gene panels was tested in four novel cases. We report the assessment of a NGS approach as a new tool in the diagnosis of LSDs in our service.
https://doi.org/10.1590/1678-4685-gmb-2018-0092
1936 downloads
5.
Population medical genetics: translating science to the community
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Giugliani, Roberto
; Bender, Fernanda
; Couto, Rowena
; Bochernitsan, Aline
; Brusius-Facchin, Ana Carolina
; Burin, Maira
; Amorim, Tatiana
; Acosta, Angelina Xavier
; Purificação, Antônio
; Leistner-Segal, Sandra
; Saraiva-Pereira, Maria Luiza
; Jardim, Laura Bannach
; Matte, Ursula
; Riegel, Mariluce
; Cardoso-dos-Santos, Augusto César
; Rodrigues, Graziella
; Oliveira, Marcelo Zagonel de
; Tagliani-Ribeiro, Alice
; Heck, Selia
; Dresch, Vanusa
; Schuler-Faccini, Lavínia
; Kubaski, Francyne
.
Abstract Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological processes related with complex disorders. Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proportion of affected patients in a small geographic area. These favorable conditions lead to the creation of a new discipline, known as “population medical genetics”, which integrates medical genetics, population genetics, epidemiological genetics and community genetics. In order to develop practical activities in this new discipline, the National Institute of Population Medical Genetics (INaGeMP) was created in 2008 in Brazil. INaGeMP has developed several tools and funded numerous research activities. In this review, we highlight three successful projects developed in the first 10 years of INaGeMP activities (2008-2018): a newborn screening pilot study for MPS VI in Northeast Brazil, the study of Machado-Joseph disease in Brazilian families with Azorian ancestry, and the high twinning rate in a small town in southern Brazil. The results of these projects in terms of scientific output and contributions to the affected communities highlight the success and importance of INaGeMP.
https://doi.org/10.1590/1678-4685-gmb-2018-0096
971 downloads
6.
State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change
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Furtado, Gabriel Vasata
; Oliveira, Camila Maria de
; Bolzan, Gabriela
; Saute, Jonas Alex Morales
; Saraiva-Pereira, Maria Luiza
; Jardim, Laura Bannach
.
Abstract Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil. Due to an expanded polyglutamine at ataxin-3, SCA3/MJD presents a relentless course with no current disease modifying treatment. Clinical scales used to measure SCA3/MJD progression present moderate effect sizes, a major drawback for their use as main outcomes in clinical trials, given the rarity and slow progression of the disease. This limitation might be overcome by finding good surrogate markers. We present here a review of studies on peripheral and neurophysiological markers in SCA3/MJD that can be candidates for state biomarkers. Data on markers already studied were summarized, giving emphasis on validation against clinical scale, and responsiveness to change. While some biological fluid compounds and neurophysiological parameters showed poor responsiveness, others seemed to be good candidates. Some potential candidates that are waiting for responsiveness studies were serum levels of neuron specific enolase, vestibulo-ocular reflex and video-oculography. Candidates evaluated by RNA and microRNA expression levels need further studies to improve their measurements. Data on peripheral levels of Beclin-1 and DNAJB1 are promising but still incipient. We conclude that several potential candidates should follow onto validating studies for surrogate state biomarkers of SCA3/MJD.
https://doi.org/10.1590/1678-4685-gmb-2018-0103
931 downloads
7.
Cross-cultural adaptation and validation of the International Cooperative Ataxia Rating Scale (ICARS) to Brazilian Portuguese
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Maggi, Fernanda Aparecida
; Braga-Neto, Pedro
; Chien, Hsin Fen
; Gama, Maria Thereza Drumond
; Rezende Filho, Flávio Moura
; Saraiva-Pereira, Maria Luiza
; Jardim, Laura Bannach
; Voos, Mariana Callil
; Pedroso, José Luiz
; Barsottini, Orlando Graziani Povoas
.
RESUMO Introdução: A avaliação clínica de pacientes atáxicos requer instrumentos confiáveis. Nosso objetivo foi traduzir, adaptar culturalmente e validar a International Cooperative Ataxia Rating Scale (ICARS) para a língua portuguesa do Brasil. Métodos: As etapas foram tradução, síntese das traduções, retrotradução, comitê de especialistas, pré-teste e avaliação final. O pré-teste foi realizado com 30 pacientes. Outros 61 pacientes foram avaliados para validade do constructo, consistência interna, confiabilidade intra e interexaminadores e consistência externa. Resultados: Este estudo mostrou boa validade do constructo e alta consistência interna para o total da escala, exceto para o domínio Oculomotor (alfa de Cronbach = 0.316, CCIintra = 82.4% e CCIinter = 79.2%). Alta correlação com a Scale for the Assessment and Rating of Ataxia foi observada. Nós encontramos boa concordância intraexaminador e relativa discordância interexaminadores, com exceção dos domínios postura e marcha. Conclusão: Esta versão da ICARS está adaptada para a cultura brasileira e pode ser usada em pacientes com ataxia.
ABSTRACT Introduction: The clinical assessment of patients with ataxias requires reliable scales. We aimed to translate, adapt and validate the International Cooperative Ataxia Rating Scale (ICARS) into Brazilian Portuguese. Methods: The steps of this study were forward translation, translation synthesis, backward translation, expert committee meeting, preliminary pilot testing and final assessment. Thirty patients were enrolled in the preliminary pilot testing and 61 patients were evaluated for construct validity, internal consistency, intra- and inter-rater reliability and external consistency. Results: This study showed good validity of the construct and high internal consistency for the full scale, except for the oculomotor domain (Cronbach's alpha = 0.316, intraclass correlation coefficients intra- = 82.4% and inter- = 79.2%). A high correlation with the Scale for the Assessment and Rating of Ataxia was observed. We found good intra-rater agreement and relative inter-rater disagreement, except in the posture and gait domain. Conclusion: The present ICARS version is adapted for the Brazilian culture and can be used to assess our ataxic patients.
https://doi.org/10.1590/0004-282x20180098
2180 downloads
8.
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome
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Saute, Jonas Alex Morales
; Souza, Carolina Fischinger Moura de
; Poswar, Fabiano de Oliveira
; Donis, Karina Carvalho
; Campos, Lillian Gonçalves
; Deyl, Adriana Vanessa Santini
; Burin, Maira Graeff
; Vargas, Carmen Regla
; Matte, Ursula da Silveira
; Giugliani, Roberto
; Saraiva-Pereira, Maria Luiza
; Vedolin, Leonardo Modesti
; Gregianin, Lauro José
; Jardim, Laura Bannach
.
RESUMO O transplante de células tronco hematopoiéticas (TCTH) é o único tratamento disponível para o envolvimento neurológico de doenças como a leucodistrofia metacromática (MLD), a mucopolissacaridose tipo I-Hurler (MPS-IH) e a adrenoleucodistrofia (CALD). Objetivos Descrever a sobrevida e os desfechos neurológicos após o TCTH nessas doenças. Métodos Sete pacientes CALD, 2 MLD e 2 MPS-IH realizaram TCTH entre 2007 e 2014. Avaliações neurológicas, ressonância nuclear magnética e estudos bioquímicos e moleculares foram feitos no baseline e repetidos quando apropriado. Resultados Desfechos favoráveis foram obtidos em 4/5 TCTH de doadores relacionados e em 3/6 não relacionados. Dois pacientes faleceram de complicações do procedimento. Nove transplantados sobreviveram após uma mediana de 3,7 anos: estabilização neurológica foi obtida em 5/6 CALD, ½ MLD e em um caso MPS-IH. As lesões encefálicas de um caso MPS-IH reduziram-se quatro anos após o TCTH. Conclusão Bons desfechos foram obtidos quando o TCTH foi feito antes da vida adulta, cedo no curso clínico e/ou a partir de um doador relacionado.
ABSTRACT Hematopoietic stem cell transplantation (HSCT) is the only available treatment for the neurological involvement of disorders such as late-onset metachromatic leukodystrophy (MLD), mucopolysaccharidosis type I-Hurler (MPS-IH), and X-linked cerebral adrenoleukodystrophy (CALD). Objective To describe survival and neurological outcomes after HSCT for these disorders. Methods Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. Results Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications. Nine transplanted patients were alive after a median of 3.7 years: neurological stabilization was obtained in 5/6 CALD, 1/2 MLD, and one MPS-IH patient. Brain lesions of the MPS-IH patient were reduced four years after HSCT. Conclusion Good outcomes were obtained when HSCT was performed before adulthood, early in the clinical course, and/or from a related donor.
https://doi.org/10.1590/0004-282x20160155
4791 downloads
9.
BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome
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Ewald, Ingrid Petroni
; Cossio, Silvia Liliana
; Palmero, Edenir Inez
; Pinheiro, Manuela
; Nascimento, Ivana Lucia de Oliveira
; Machado, Taisa Manuela Bonfim
; Sandes, Kiyoko Abe
; Toralles, Betânia
; Garicochea, Bernardo
; Izetti, Patricia
; Pereira, Maria Luiza Saraiva
; Bock, Hugo
; Vargas, Fernando Regla
; Moreira, Miguel Ângelo Martins
; Peixoto, Ana
; Teixeira, Manuel R.
; Ashton-Prolla, Patricia
.
Abstract Approximately 5-10% of breast cancers are caused by germline mutations in high penetrance predisposition genes. Among these, BRCA1 and BRCA2, which are associated with the Hereditary Breast and Ovarian Cancer (HBOC) syndrome, are the most frequently affected genes. Recent studies confirm that gene rearrangements, especially in BRCA1, are responsible for a significant proportion of mutations in certain populations. In this study we determined the prevalence of BRCA rearrangements in 145 unrelated Brazilian individuals at risk for HBOC syndrome who had not been previously tested for BRCA mutations. Using Multiplex Ligation-dependent Probe Amplification (MLPA) and a specific PCR-based protocol to identify a Portuguese founder BRCA2 mutation, we identified two (1,4%) individuals with germline BRCA1 rearrangements (c.547+240_5193+178del and c.4675+467_5075-990del) and three probands with the c.156_157insAlu founder BRCA2 rearrangement. Furthermore, two families with false positive MLPA results were shown to carry a deleterious point mutation at the probe binding site. This study comprises the largest Brazilian series of HBOC families tested for BRCA1 and BRCA2 rearrangements to date and includes patients from three regions of the country. The overall observed rearrangement frequency of 3.44% indicates that rearrangements are relatively uncommon in the admixed population of Brazil.
https://doi.org/10.1590/1678-4685-gmb-2014-0350
3356 downloads
10.
Growing knowledge: an overview of Seed Plant diversity in Brazil
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Zappi, Daniela C.
; Filardi, Fabiana L. Ranzato
; Leitman, Paula
; Souza, Vinícius C.
; Walter, Bruno M.T.
; Pirani, José R.
; Morim, Marli P.
; Queiroz, Luciano P.
; Cavalcanti, Taciana B.
; Mansano, Vidal F.
; Forzza, Rafaela C.
; Abreu, Maria C.
; Acevedo-Rodríguez, Pedro
; Agra, Maria F.
; Almeida Jr., Eduardo B.
; Almeida, Gracineide S.S.
; Almeida, Rafael F.
; Alves, Flávio M.
; Alves, Marccus
; Alves-Araujo, Anderson
; Amaral, Maria C.E.
; Amorim, André M.
; Amorim, Bruno
; Andrade, Ivanilza M.
; Andreata, Regina H.P.
; Andrino, Caroline O.
; Anunciação, Elisete A.
; Aona, Lidyanne Y.S.
; Aranguren, Yani
; Aranha Filho, João L.M.
; Araújo, Andrea O.
; Araújo, Ariclenes A.M.
; Araújo, Diogo
; Arbo, María M.
; Assis, Leandro
; Assis, Marta C.
; Assunção, Vivian A.
; Athiê-Souza, Sarah M.
; Azevedo, Cecilia O.
; Baitello, João B.
; Barberena, Felipe F.V.A.
; Barbosa, Maria R.V.
; Barros, Fábio
; Barros, Lucas A.V.
; Barros, Michel J.F.
; Baumgratz, José F.A.
; Bernacci, Luis C.
; Berry, Paul E.
; Bigio, Narcísio C.
; Biral, Leonardo
; Bittrich, Volker
; Borges, Rafael A.X.
; Bortoluzzi, Roseli L.C.
; Bove, Cláudia P.
; Bovini, Massimo G.
; Braga, João M.A.
; Braz, Denise M.
; Bringel Jr., João B.A.
; Bruniera, Carla P.
; Buturi, Camila V.
; Cabral, Elza
; Cabral, Fernanda N.
; Caddah, Mayara K.
; Caires, Claudenir S.
; Calazans, Luana S.B.
; Calió, Maria F.
; Camargo, Rodrigo A.
; Campbell, Lisa
; Canto-Dorow, Thais S.
; Carauta, Jorge P.P.
; Cardiel, José M.
; Cardoso, Domingos B.O.S.
; Cardoso, Leandro J.T.
; Carneiro, Camila R.
; Carneiro, Cláudia E.
; Carneiro-Torres, Daniela S.
; Carrijo, Tatiana T.
; Caruzo, Maria B.R.
; Carvalho, Maria L.S.
; Carvalho-Silva, Micheline
; Castello, Ana C.D.
; Cavalheiro, Larissa
; Cervi, Armando C.
; Chacon, Roberta G.
; Chautems, Alain
; Chiavegatto, Berenice
; Chukr, Nádia S.
; Coelho, Alexa A.O.P.
; Coelho, Marcus A.N.
; Coelho, Rubens L.G.
; Cordeiro, Inês
; Cordula, Elizabeth
; Cornejo, Xavier
; Côrtes, Ana L.A.
; Costa, Andrea F.
; Costa, Fabiane N.
; Costa, Jorge A.S.
; Costa, Leila C.
; Costa-e-Silva, Maria B.
; Costa-Lima, James L.
; Cota, Maria R.C.
; Couto, Ricardo S.
; Daly, Douglas C.
; De Stefano, Rodrigo D.
; De Toni, Karen
; Dematteis, Massimiliano
; Dettke, Greta A.
; Di Maio, Fernando R.
; Dórea, Marcos C.
; Duarte, Marília C.
; Dutilh, Julie H.A.
; Dutra, Valquíria F.
; Echternacht, Lívia
; Eggers, Lilian
; Esteves, Gerleni
; Ezcurra, Cecilia
; Falcão Junior, Marcus J.A.
; Feres, Fabíola
; Fernandes, José M.
; Ferreira, D.M.C.
; Ferreira, Fabrício M.
; Ferreira, Gabriel E.
; Ferreira, Priscila P.A.
; Ferreira, Silvana C.
; Ferrucci, Maria S.
; Fiaschi, Pedro
; Filgueiras, Tarciso S.
; Firens, Marcela
; Flores, Andreia S.
; Forero, Enrique
; Forster, Wellington
; Fortuna-Perez, Ana P.
; Fortunato, Reneé H.
; Fraga, Cléudio N.
; França, Flávio
; Francener, Augusto
; Freitas, Joelcio
; Freitas, Maria F.
; Fritsch, Peter W.
; Furtado, Samyra G.
; Gaglioti, André L.
; Garcia, Flávia C.P.
; Germano Filho, Pedro
; Giacomin, Leandro
; Gil, André S.B.
; Giulietti, Ana M.
; A.P.Godoy, Silvana
; Goldenberg, Renato
; Gomes da Costa, Géssica A.
; Gomes, Mário
; Gomes-Klein, Vera L.
; Gonçalves, Eduardo Gomes
; Graham, Shirley
; Groppo, Milton
; Guedes, Juliana S.
; Guimarães, Leonardo R.S.
; Guimarães, Paulo J.F.
; Guimarães, Elsie F.
; Gutierrez, Raul
; Harley, Raymond
; Hassemer, Gustavo
; Hattori, Eric K.O.
; Hefler, Sonia M.
; Heiden, Gustavo
; Henderson, Andrew
; Hensold, Nancy
; Hiepko, Paul
; Holanda, Ana S.S.
; Iganci, João R.V.
; Imig, Daniela C.
; Indriunas, Alexandre
; Jacques, Eliane L.
; Jardim, Jomar G.
; Kamer, Hiltje M.
; Kameyama, Cíntia
; Kinoshita, Luiza S.
; Kirizawa, Mizué
; Klitgaard, Bente B.
; Koch, Ingrid
; Koschnitzke, Cristiana
; Krauss, Nathália P.
; Kriebel, Ricardo
; Kuntz, Juliana
; Larocca, João
; Leal, Eduardo S.
; Lewis, Gwilym P.
; Lima, Carla T.
; Lima, Haroldo C.
; Lima, Itamar B.
; Lima, Laíce F.G.
; Lima, Laura C.P.
; Lima, Leticia R.
; Lima, Luís F.P.
; Lima, Rita B.
; Lírio, Elton J.
; Liro, Renata M.
; Lleras, Eduardo
; Lobão, Adriana
; Loeuille, Benoit
; Lohmann, Lúcia G.
; Loiola, Maria I.B.
; Lombardi, Julio A.
; Longhi-Wagner, Hilda M.
; Lopes, Rosana C.
; Lorencini, Tiago S.
; Louzada, Rafael B.
; Lovo, Juliana
; Lozano, Eduardo D.
; Lucas, Eve
; Ludtke, Raquel
; Luz, Christian L.
; Maas, Paul
; Machado, Anderson F.P.
; Macias, Leila
; Maciel, Jefferson R.
; Magenta, Mara A.G.
; Mamede, Maria C.H.
; Manoel, Evelin A.
; Marchioretto, Maria S.
; Marques, Juliana S.
; Marquete, Nilda
; Marquete, Ronaldo
; Martinelli, Gustavo
; Martins da Silva, Regina C.V.
; Martins, Ângela B.
; Martins, Erika R.
; Martins, Márcio L.L.
; Martins, Milena V.
; Martins, Renata C.
; Matias, Ligia Q.
; Maya-L., Carlos A.
; Mayo, Simon
; Mazine, Fiorella
; Medeiros, Debora
; Medeiros, Erika S.
; Medeiros, Herison
; Medeiros, João D.
; Meireles, José E.
; Mello-Silva, Renato
; Melo, Aline
; Melo, André L.
; Melo, Efigênia
; Melo, José I.M.
; Menezes, Cristine G.
; Menini Neto, Luiz
; Mentz, Lilian A.
; Mezzonato, A.C.
; Michelangeli, Fabián A.
; Milward-de-Azevedo, Michaele A.
; Miotto, Silvia T.S.
; Miranda, Vitor F.O.
; Mondin, Cláudio A.
; Monge, Marcelo
; Monteiro, Daniele
; Monteiro, Raquel F.
; Moraes, Marta D.
; Moraes, Pedro L.R.
; Mori, Scott A.
; Mota, Aline C.
; Mota, Nara F.O.
; Moura, Tania M.
; Mulgura, Maria
; Nakajima, Jimi N.
; Nardy, Camila
; Nascimento Júnior, José E.
; Noblick, Larry
; Nunes, Teonildes S.
; O'Leary, Nataly
; Oliveira, Arline S.
; Oliveira, Caetano T.
; Oliveira, Juliana A.
; Oliveira, Luciana S.D.
; Oliveira, Maria L.A.A.
; Oliveira, Regina C.
; Oliveira, Renata S.
; Oliveira, Reyjane P.
; Paixão-Souza, Bruno
; Parra, Lara R.
; Pasini, Eduardo
; Pastore, José F.B.
; Pastore, Mayara
; Paula-Souza, Juliana
; Pederneiras, Leandro C.
; Peixoto, Ariane L.
; Pelissari, Gisela
; Pellegrini, Marco O.O.
; Pennington, Toby
; Perdiz, Ricardo O.
; Pereira, Anna C.M.
; Pereira, Maria S.
; Pereira, Rodrigo A.S.
; Pessoa, Clenia
; Pessoa, Edlley M.
; Pessoa, Maria C.R.
; Pinto, Luiz J.S.
; Pinto, Rafael B.
; Pontes, Tiago A.
; Prance, Ghillean T.
; Proença, Carolyn
; Profice, Sheila R.
; Pscheidt, Allan C.
; Queiroz, George A.
; Queiroz, Rubens T.
; Quinet, Alexandre
; Rainer, Heimo
; Ramos, Eliana
; Rando, Juliana G.
; Rapini, Alessandro
; Reginato, Marcelo
; Reis, Ilka P.
; Reis, Priscila A.
; Ribeiro, André R.O.
; Ribeiro, José E.L.S.
; Riina, Ricarda
; Ritter, Mara R.
; Rivadavia, Fernando
; Rocha, Antônio E.S.
; Rocha, Maria J.R.
; Rodrigues, Izabella M.C.
; Rodrigues, Karina F.
; Rodrigues, Rodrigo S.
; Rodrigues, Rodrigo S.
; Rodrigues, Vinícius T.
; Rodrigues, William
; Romaniuc Neto, Sérgio
; Romão, Gerson O.
; Romero, Rosana
; Roque, Nádia
; Rosa, Patrícia
; Rossi, Lúcia
; Sá, Cyl F.C.
; Saavedra, Mariana M.
; Saka, Mariana
; Sakuragui, Cássia M.
; Salas, Roberto M.
; Sales, Margareth F.
; Salimena, Fatima R.G.
; Sampaio, Daniela
; Sancho, Gisela
; Sano, Paulo T.
; Santos, Alessandra
; Santos, Élide P.
; Santos, Juliana S.
; Santos, Marianna R.
; Santos-Gonçalves, Ana P.
; Santos-Silva, Fernanda
; São-Mateus, Wallace
; Saraiva, Deisy P.
; Saridakis, Dennis P.
; Sartori, Ângela L.B.
; Scalon, Viviane R.
; Schneider, Ângelo
; Sebastiani, Renata
; Secco, Ricardo S.
; Senna, Luisa
; Senna-Valle, Luci
; Shirasuna, Regina T.
; Silva Filho, Pedro J.S.
; Silva, Anádria S.
; Silva, Christian
; Silva, Genilson A.R.
; Silva, Gisele O.
; Silva, Márcia C.R.
; Silva, Marcos J.
; Silva, Marcos J.
; Silva, Otávio L.M.
; Silva, Rafaela A.P.
; Silva, Saura R.
; Silva, Tania R.S.
; Silva-Gonçalves, Kelly C.
; Silva-Luz, Cíntia L.
; Simão-Bianchini, Rosângela
; Simões, André O.
; Simpson, Beryl
; Siniscalchi, Carolina M.
; Siqueira Filho, José A.
; Siqueira, Carlos E.
; Siqueira, Josafá C.
; Smith, Nathan P.
; Snak, Cristiane
; Soares Neto, Raimundo L.
; Soares, Kelen P.
; Soares, Marcos V.B.
; Soares, Maria L.
; Soares, Polyana N.
; Sobral, Marcos
; Sodré, Rodolfo C.
; Somner, Genise V.
; Sothers, Cynthia A.
; Sousa, Danilo J.L.
; Souza, Elnatan B.
; Souza, Élvia R.
; Souza, Marcelo
; Souza, Maria L.D.R.
; Souza-Buturi, Fátima O.
; Spina, Andréa P.
; Stapf, María N.S.
; Stefano, Marina V.
; Stehmann, João R.
; Steinmann, Victor
; Takeuchi, Cátia
; Taylor, Charlotte M.
; Taylor, Nigel P.
; Teles, Aristônio M.
; Temponi, Lívia G.
; Terra-Araujo, Mário H.
; Thode, Veronica
; Thomas, W.Wayt
; Tissot-Squalli, Mara L.
; Torke, Benjamin M.
; Torres, Roseli B.
; Tozzi, Ana M.G.A.
; Trad, Rafaela J.
; Trevisan, Rafael
; Trovó, Marcelo
; Valls, José F.M.
; Vaz, Angela M.S.F.
; Versieux, Leonardo
; Viana, Pedro L.
; Vianna Filho, Marcelo D.M.
; Vieira, Ana O.S.
; Vieira, Diego D.
; Vignoli-Silva, Márcia
; Vilar, Thaisa
; Vinhos, Franklin
; Wallnöfer, Bruno
; Wanderley, Maria G.L.
; Wasshausen, Dieter
; Watanabe, Maurício T.C.
; Weigend, Maximilian
; Welker, Cassiano A.D.
; Woodgyer, Elizabeth
; Xifreda, Cecilia C.
; Yamamoto, Kikyo
; Zanin, Ana
; Zenni, Rafael D.
; Zickel, Carmem S
.
Resumo Um levantamento atualizado das plantas com sementes e análises relevantes acerca desta biodiversidade são apresentados. Este trabalho se iniciou em 2010 com a publicação do Catálogo de Plantas e Fungos e, desde então vem sendo atualizado por mais de 430 especialistas trabalhando online. O Brasil abriga atualmente 32.086 espécies nativas de Angiospermas e 23 espécies nativas de Gimnospermas e estes novos dados mostram um aumento de 3% da riqueza em relação a 2010. A Amazônia é o Domínio Fitogeográfico com o maior número de espécies de Gimnospermas, enquanto que a Floresta Atlântica possui a maior riqueza de Angiospermas. Houve um crescimento considerável no número de espécies e nas taxas de endemismo para a maioria dos Domínios (Caatinga, Cerrado, Floresta Atlântica, Pampa e Pantanal), com exceção da Amazônia que apresentou uma diminuição de 2,5% de endemicidade. Entretanto, a maior parte das plantas com sementes que ocorrem no Brasil (57,4%) é endêmica deste território. A proporção de formas de vida varia de acordo com os diferentes Domínios: árvores são mais expressivas na Amazônia e Floresta Atlântica do que nos outros biomas, ervas são dominantes no Pampa e as lianas apresentam riqueza expressiva na Amazônia, Floresta Atlântica e Pantanal. Este trabalho não só quantifica a biodiversidade brasileira, mas também indica as lacunas de conhecimento e o desafio a ser enfrentado para a conservação desta flora.
Abstract 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 the Atlantic Rainforest is the richest one for Angiosperms. There was a considerable increment in the number of species and endemism rates for biomes, except for the Amazon that showed a decrease of 2.5% of recorded endemics. However, well over half of Brazillian seed plant species (57.4%) is endemic to this territory. The proportion of life-forms varies among different biomes: trees are more expressive in the Amazon and Atlantic Rainforest biomes while herbs predominate in the Pampa, and lianas are more expressive in the Amazon, Atlantic Rainforest, and Pantanal. This compilation serves not only to quantify Brazilian biodiversity, but also to highlight areas where there information is lacking and to provide a framework for the challenge faced in conserving Brazil's unique and diverse flora.
https://doi.org/10.1590/2175-7860201566411
33340 downloads
11.
Niemann-Pick disease type C: a case series of Brazilian patients
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Lorenzoni, Paulo José
; Cardoso, Elaine
; Crippa, Ana C. S.
; Lourenço, Charles Marques
; Souza, Fernanda Timm Seabra
; Giugliani, Roberto
; Saraiva-Pereira, Maria Luiza
; Raskin, Salmo
; Bruck, Isac
; Kay, Cláudia S. K.
; Scola, Rosana H.
; C.Werneck, Lineu
; Teive, Hélio A. G.
.
O objetivo desse estudo foi analisar uma série de casos de pacientes brasileiros com doença de Niemann-Pick tipo C (NP-C). Método Correlação entre manifestações clínicas, alterações laboratoriais, estudo molecular e resposta ao tratamento foram realizadas. Resultado A amostra consiste de 5 pacientes com idade entre 8 e 26 anos. Paralisia do olhar vertical supranuclear, ataxia cerebelar, demência, distonia e disartria estavam presentes em todos os casos. Coloração de filipina na cultura de fibroblastos mostrou padrão “clássico” em dois pacientes e padrão “variante” em três casos. O estudo molecular encontrou mutações no gene NPC1 em todos os alelos. O tratamento com miglustate foi realizado em 4 pacientes. Conclusão Embora coloração de filipina seja utilizada para confirmar o diagnóstico, o histiócito azul-marinho no aspirado de medula óssea frequentemente auxilia a confirmar o diagnóstico de NP-C. A mutação p.P1007A está correlacionada com o padrão “ variante” na coloração de filipina. A resposta ao tratamento com miglustate parece estar correlacionada com a idade e escore de desabilidade no momento do diagnóstico.
The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C). Method Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented. Result The sample consisted of 5 patients aged 8 to 26 years. Vertical supranuclear gaze palsy, cerebellar ataxia, dementia, dystonia and dysarthria were present in all cases. Filipin staining showed the “classical” pattern in two patients and a “variant” pattern in three patients. Molecular analysis found mutations in the NPC1 gene in all alleles. Miglustat treatment was administered to 4 patients. Conclusion Although filipin staining should be used to confirm the diagnosis, bone marrow sea-blue histiocytes often help to diagnosis of NP-C. The p.P1007A mutation seems to be correlated with the “variant” pattern in filipin staining. Miglustat treatment response seems to be correlated with the age at disease onset and disability scale score at diagnosis.
https://doi.org/10.1590/0004-282X20130249
7066 downloads
12.
Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis
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Dal'Maso, Vinícius Buaes
; Mallmann, Lucas
; Siebert, Marina
; Simon, Laura
; Saraiva-Pereira, Maria Luiza
; Dalcin, Paulo de Tarso Roth
.
OBJETIVO: Avaliar a contribuição da análise molecular do gene cystic fibrosis transmembrane conductance regulator (CFTR, regulador da condutância transmembrana na fibrose cística) na investigação diagnóstica da fibrose cística em pacientes com suspeita de fibrose cística (FC) leve ou atípica. MÉTODOS: Estudo transversal em adolescentes e adultos (idade ≥ 14 anos). Os voluntários foram submetidos à avaliação clínica, laboratorial e radiológica; espirometria, microbiologia do escarro, ecografia hepática, teste do suor e análise molecular do gene CFTR. Compararam-se as características dos pacientes divididos em três grupos, segundo o número de mutações identificadas (duas ou mais, uma e nenhuma). RESULTADOS: Foram avaliados 37 pacientes com achados fenotípicos de FC, com ou sem confirmação pelo teste do suor. Houve predomínio do sexo feminino (75,7%), e a média de idade dos participantes foi de 32,5 ± 13,6 anos. A análise molecular contribuiu para o diagnóstico de FC em 3 casos (8,1%), todos esses com pelo menos duas mutações. Houve a identificação de uma e nenhuma mutação, respectivamente, em 7 (18,9%) e 26 pacientes (70,3%). Nenhuma característica clínica estudada se associou com o diagnóstico genético. A mutação p.F508del foi a mais comum, encontrada em 5 pacientes. A associação de p.V232D e p.F508del foi encontrada em 2 pacientes. Outras mutações encontradas foram p.A559T, p.D1152H, p.T1057A, p.I148T, p.V754M, p.P1290P, p.R1066H e p.T351S. CONCLUSÕES: A análise molecular da região codificadora do gene CFTR apresentou uma contribuição limitada para a investigação diagnóstica desses pacientes com suspeita de FC leve ou atípica. Além disso, não houve associações entre as características clínicas e o diagnóstico genético.
OBJECTIVE: To evaluate the diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients suspected of having mild or atypical cystic fibrosis (CF). METHODS: This was a cross-sectional study involving adolescents and adults aged ≥ 14 years. Volunteers underwent clinical, laboratory, and radiological evaluation, as well as spirometry, sputum microbiology, liver ultrasound, sweat tests, and molecular analysis of the CFTR gene. We then divided the patients into three groups by the number of mutations identified (none, one, and two or more) and compared those groups in terms of their characteristics. RESULTS: We evaluated 37 patients with phenotypic findings of CF, with or without sweat test confirmation. The mean age of the patients was 32.5 ± 13.6 years, and females predominated (75.7%). The molecular analysis contributed to the definitive diagnosis of CF in 3 patients (8.1%), all of whom had at least two mutations. There were 7 patients (18.9%) with only one mutation and 26 patients (70.3%) with no mutations. None of the clinical characteristics evaluated was found to be associated with the genetic diagnosis. The most common mutation was p.F508del, which was found in 5 patients. The combination of p.V232D and p.F508del was found in 2 patients. Other mutations identified were p.A559T, p.D1152H, p.T1057A, p.I148T, p.V754M, p.P1290P, p.R1066H, and p.T351S. CONCLUSIONS: The molecular analysis of the CFTR gene coding region showed a limited contribution to the diagnostic investigation of patients suspected of having mild or atypical CF. In addition, there were no associations between the clinical characteristics and the genetic diagnosis.
https://doi.org/10.1590/S1806-37132013000200009
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13.
GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submitted to breast cancer screening
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Aguiar, Ernestina Silva de
; Giacomazzi, Juliana
; Schmidt, Aishameriane Venes
; Bock, Hugo
; Saraiva-Pereira, Maria Luiza
; Schuler-Faccini, Lavínia
; Duarte Filho, Dakir
; Santos, Pollyanna Almeida Costa dos
; Giugliani, Roberto
; Caleffi, Maira
; Camey, Suzi Alves
; Ashton-Prolla, Patrícia
.
Revista Brasileira de Epidemiologia
- Métricas do periódico
Polimorfismos genéticos em genes relacionados com o metabolismo de xenobióticos, como os genes da superfamília das glutationa S-transferases (GSTM1, GSTT1 e GSTP1) têm sido associados com o aumento do risco para câncer de mama (CM). Considerando a alta incidência de CM na cidade de Porto Alegre, região Sul do Brasil, a proposta deste estudo foi caracterizar genótipos e frequências alélicas dos polimorfismos GSTM1, GSTT1 e GSTP1, e correlacionar esses achados moleculares com fatores de risco já estabelecidos para câncer de mama, incluindo densidade mamográfica, em uma amostra de 750 mulheres assintomáticas durante o rastreamento mamográfico. Para os testes moleculares foi utilizado multiplex da reação em cadeia de polimerase (PCR) para GSTM1 e GSTT1, e PCR quantitativo para o polimorfismo GSTP1. As frequências dos genótipos GSTM1 e GSTT1 nulos foram 45% e 21%, respectivamente. Para o polimorfismo GSTP1, as frequências genotipicas foram: 44% para o genótipo Ile/Ile, 44% para o genótipo Ile/Val e 12% para o genótipo Val/Val. A frequência do alelo lle nesta população foi 66%, semelhante a outros estudos. Houve uma associação significativa entre a combinação dos genótipos (T-/M-) nulos e densidade mamográfica nas mulheres pós-menopáusicas (p = 0,031). Quando analisamos isoladamente o genótipo GSTT1 nulo (T-) também encontramos uma associação significativa com a densidade mamográfica nas mulheres pós-menopáusicas (p = 0,027) e na amostra total. Estes achados sugerem uma associação dos genótipos (T-/M-) nulos com densidade mamográfica.
Genetic polymorphisms in genes related to the metabolism of xenobiotics, such as genes of the glutathione S-transferases (GSTM1, GSTT1, and GSTP1) superfamily have been associated with an increased risk for breast cancer (BC). Considering the high incidence of BC in the city of Porto Alegre in southern Brazil, the purpose of this study was to characterize genotypic and allelic frequencies of polymorphisms in GSTM1, GSTT1, and GSTP1, and correlate these molecular findings with established risk factors for breast cancer including mammographic density, in a sample of 750 asymptomatic women undergoing mammographic screening. Molecular tests were performed using the multiplex polymerase chain reaction (PCR) for GSTM1 and GSTT1, and quantitative PCR for GSTP1 polymorphisms. Overall, the frequencies of GSTM1 and GSTT1 null genotypes were 45% and 21%, respectively. For GSTP1 polymorphism, genotypic frequencies were 44% for the Ile/Ile genotype, 44% for the Ile/Val genotype, and 12% for Val/Val genotype, with an allelic frequency of 66% for the wild type allele in this population, similar to results of previous international publications. There was a statistically significant association between the combined GSTM1 and GSTT1 null genotypes (M-/T-) and mammographic density in post menopausal women (p = 0.031). When the GSTT1 null (T-) genotype was analyzed isolated, the association with mammographic density in post menopausal women and in the overall sample was also statistically significant (p = 0.023 and p = 0.027, respectively). These findings suggest an association of GSTM1 and GSTT1 null genotypes with mammographic density.
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14.
GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submitted to breast cancer screening
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Aguiar, Ernestina Silva de
; Giacomazzi, Juliana
; Schmidt, Aishameriane Venes
; Bock, Hugo
; Saraiva-Pereira, Maria Luiza
; Schuler-Faccini, Lavínia
; Duarte Filho, Dakir
; Santos, Pollyanna Almeida Costa dos
; Giugliani, Roberto
; Caleffi, Maira
; Camey, Suzi Alves
; Ashton-Prolla, Patrícia
.
Revista Brasileira de Epidemiologia
- Métricas do periódico
Polimorfismos genéticos em genes relacionados com o metabolismo de xenobióticos, como os genes da superfamília das glutationa S-transferases (GSTM1, GSTT1 e GSTP1) têm sido associados com o aumento do risco para câncer de mama (CM). Considerando a alta incidência de CM na cidade de Porto Alegre, região Sul do Brasil, a proposta deste estudo foi caracterizar genótipos e frequências alélicas dos polimorfismos GSTM1, GSTT1 e GSTP1, e correlacionar esses achados moleculares com fatores de risco já estabelecidos para câncer de mama, incluindo densidade mamográfica, em uma amostra de 750 mulheres assintomáticas durante o rastreamento mamográfico. Para os testes moleculares foi utilizado multiplex da reação em cadeia de polimerase (PCR) para GSTM1 e GSTT1, e PCR quantitativo para o polimorfismo GSTP1. As frequências dos genótipos GSTM1 e GSTT1 nulos foram 45% e 21%, respectivamente. Para o polimorfismo GSTP1, as frequências genotipicas foram: 44% para o genótipo Ile/Ile, 44% para o genótipo Ile/Val e 12% para o genótipo Val/Val. A frequência do alelo lle nesta população foi 66%, semelhante a outros estudos. Houve uma associação significativa entre a combinação dos genótipos (T-/M-) nulos e densidade mamográfica nas mulheres pós-menopáusicas (p = 0,031). Quando analisamos isoladamente o genótipo GSTT1 nulo (T-) também encontramos uma associação significativa com a densidade mamográfica nas mulheres pós-menopáusicas (p = 0,027) e na amostra total. Estes achados sugerem uma associação dos genótipos (T-/M-) nulos com densidade mamográfica.
Genetic polymorphisms in genes related to the metabolism of xenobiotics, such as genes of the glutathione S-transferases (GSTM1, GSTT1, and GSTP1) superfamily have been associated with an increased risk for breast cancer (BC). Considering the high incidence of BC in the city of Porto Alegre in southern Brazil, the purpose of this study was to characterize genotypic and allelic frequencies of polymorphisms in GSTM1, GSTT1, and GSTP1, and correlate these molecular findings with established risk factors for breast cancer including mammographic density, in a sample of 750 asymptomatic women undergoing mammographic screening. Molecular tests were performed using the multiplex polymerase chain reaction (PCR) for GSTM1 and GSTT1, and quantitative PCR for GSTP1 polymorphisms. Overall, the frequencies of GSTM1 and GSTT1 null genotypes were 45% and 21%, respectively. For GSTP1 polymorphism, genotypic frequencies were 44% for the Ile/Ile genotype, 44% for the Ile/Val genotype, and 12% for Val/Val genotype, with an allelic frequency of 66% for the wild type allele in this population, similar to results of previous international publications. There was a statistically significant association between the combined GSTM1 and GSTT1 null genotypes (M-/T-) and mammographic density in post menopausal women (p = 0.031). When the GSTT1 null (T-) genotype was analyzed isolated, the association with mammographic density in post menopausal women and in the overall sample was also statistically significant (p = 0.023 and p = 0.027, respectively). These findings suggest an association of GSTM1 and GSTT1 null genotypes with mammographic density.
4670 downloads
15.
A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity
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Artigalás, Osvaldo
; Paskulin, Giorgio
; Riegel, Mariluce
; Burin, Maira
; Saraiva-Pereira, Maria Luiza
; Maluf, Sharbel
; Kiss, Andrea
; Schwartz, Ida Vanessa D.
.
A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan ARSA gene and chromosome analysis were performed, showing the presence of a pseudodeficiency ARSA allele and a de novo apparently balanced t(16;22)(p11.2;q13) translocation. A deletion on the long arm of chromosome 22 encompassing the ARSA gene, as shown by FISH and array-CGH, indicated a 22q13 deletion syndrome. This case illustrates the importance of detailed cytogenetic investigation in patients presenting low arylsulfatase A activity and atypical/unspecific clinical features.
2597 downloads
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type | tipo do documento |
pid | identificador da publicação |
publication_year | ano de publicação do artigo |
sponsor | financiador |
aff_country | código do país de afiliação do autor |
aff_institution | instituição de afiliação do autor |
volume | volume do artigo |
issue | número do artigo |
elocation | elocation |
doi | número DOI |
issn | ISSN da revista |
in | código da coleção SciELO (ex. scl - Brasil, col - Colômbia) |
use_license | código da licença de uso do artigo |