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Search Results: 1 - 10 of 608 matches for " Raimunda;Leistner-Segal "
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Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy
Viana, Gustavo M.;Lima, Nathália O. de;Cavaleiro, Rosely;Alves, Erik;Souza, Isabel C.N.;Feio, Raimunda;Leistner-Segal, Sandra;Schwartz, Ida;Giugliani, Roberto;Silva, Luiz C. Santana da;
Genetics and Molecular Biology , 2011, DOI: 10.1590/S1415-47572011005000025
Abstract: mucopolysaccharidoses (mps) are rare lysosomal disorders caused by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan (gag) degradation. enzyme replacement therapy (ert) has been shown to reduce accumulation and urinary excretion of gag, and to improve some of the patients' clinical signs. we studied biochemical and molecular characteristics of nine mps patients (two mps i, four mps ii and three mps vi) undergoing ert in northern brazil. the responsiveness of ert was evaluated through urinary gag excretion measurements. patients were screened for eight common mps mutations, using pcr, restriction enzyme tests and direct sequencing. two mps i patients had the previously reported mutation p.p533r. in the mps ii patients, mutation analysis identified the mutation p.r468w, and in the mps vi patients, polymorphisms p.v358m and p.v376m were also found. after 48 weeks of ert, biochemical analysis showed a significantly decreased total urinary gag excretion in patients with mps i (p < 0.01) and mps vi (p < 0.01). our findings demonstrate the effect of ert on urinary gag excretion and suggest the adoption of a screening strategy for genotyping mps patients living far from the main reference centers.
Lack of association between the Serotonin Transporter Promoter Polymorphism (5-HTTLPR) and Panic Disorder: a systematic review and meta-analysis
Carolina Blaya, Giovanni A Salum, Maurício S Lima, Sandra Leistner-Segal, Gisele G Manfro
Behavioral and Brain Functions , 2007, DOI: 10.1186/1744-9081-3-41
Abstract: This is a systematic review and meta-analysis of case-control studies with unrelated individuals of any ethnic origin examining the role of the 5-HTTLPR in PD according to standard diagnostic criteria (DSM or ICD). Articles published in any language between January 1996 and April 2007 were eligible. The electronic databases searched included PubMed, PsychInfo, Lilacs and ISI. Two separate analyses were performed: an analysis by alleles and a stratified analysis separating studies by the quality of control groups. Asymptotic DerSimonian and Laird's Q test were used to assess heterogeneity. Results of individual studies were combined using the fixed effect model with respective 95% confidence intervals.Nineteen potential articles were identified, and 10 studies were included in this meta-analysis. No statistically significant association between 5-HTTLPR and PD was found, OR = 0.91 (CI95% 0.80 to 1.03, p = 0.14). Three sub-analyses divided by ethnicity, control group quality and Agoraphobia comorbidity also failed to find any significant association. No evidence of heterogeneity was found between studies in the analyses.Results from this systematic review do not provide evidence to support an association between 5-HTTLPR and PD. However, more studies are needed in different ethnic populations in order to evaluate a possible minor effect.Studies in families have shown that Panic Disorder (PD) has a familiar pattern: its prevalence is higher in first degree family members than in control groups [1]. Studies involving siblings show that PD concordance is higher in monozygotic than dizygotic twins [2]. These findings propose that genetic factors contribute to the pathogenesis of PD with an estimated heritability of 30–40% [3], whereas a recent meta-analysis suggests a higher heritability of 48% [4].Studies on candidate genes for association have been selected on the basis of the molecular therapeutic drugs and panic-provoking agents [5]. For instance, the response shown b
Detection of human bocavirus and human metapneumovirus by real-time PCR from patients with respiratory symptoms in Southern Brazil
Pilger, Diogo André;Cantarelli, Vlademir Vicente;Amantea, Sérgio Luis;Leistner-Segal, Sandra;
Memórias do Instituto Oswaldo Cruz , 2011, DOI: 10.1590/S0074-02762011000100009
Abstract: the introduction of newer molecular methods has led to the discovery of new respiratory viruses, such as human metapneumovirus (hmpv) and human bocavirus (hbov), in respiratory tract specimens. we have studied the occurrence of hmpv and hbov in the porto alegre (pa) metropolitan area, one of the southernmost cities of brazil, evaluating children with suspected lower respiratory tract infection from may 2007-june 2008. a real-time polymerase chain reaction method was used for amplification and detection of hmpv and hbov and to evaluate coinfections with respiratory syncytial virus (rsv), influenza a and b, parainfluenza 1, 2 and 3, human rhinovirus and human adenovirus. of the 455 nasopharyngeal aspirates tested, hmpv was detected in 14.5% of samples and hbov in 13.2%. a unique causative viral agent was identified in 46.2% samples and the coinfection rate was 43.7%. for hbov, 98.3% of all positive samples were from patients with mixed infections. similarly, 84.8% of all hmpv-positive results were also observed in mixed infections. both hbov and hmpv usually appeared with rsv. in summary, this is the first confirmation that hmpv and hbov circulate in pa; this provides evidence of frequent involvement of both viruses in children with clinical signs of acute viral respiratory tract infection, although they mainly appeared as coinfection agents.
Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospital
Kessler, Rejane G.;Sanseverino, Maria Teresa V.;Leistner-Segal, Sandra;Magalh?es, José A.A.;Giugliani, Roberto;
Genetics and Molecular Biology , 2008, DOI: 10.1590/S1415-47572008000500004
Abstract: the study of the fetal karyotype became an important tool for the fetal diagnosis of genetic diseases in the 1970s. although application of this test has remained very restricted in brazil, we had 905 referrals for prenatal fetal karyotyping between 1989 and 2007. in 879 cases, a fetal karyotype was obtained. we detected 74 abnormal karyotypes (8.4%), the majority being found when the prior indication was fetal malformation. when obtaining amniotic fluid or chorionic villus samples was difficult, alternative fetal materials (urine, cystic hygroma, cystic lung, intreperitoneal and cerebrospinal fluids) were collected and we had success in obtaining karyotypes in all 13 cases. although, the option of terminating abnormal pregnancies does not legally exist in brazil, the information gained in assessing the prognosis of on-going pregnancies or estimating recurrence risks justifies prenatal diagnosis of chromosome abnormalities. we conclude that, in keeping with the policy in most other countries, prenatal cytogenetic analysis is strongly recommended in high-risk pregnancies for fetal abnormalities. however, the unique aspect of this type of study is not its rarity in world terms, but its rarity in brazil. this argues that brazilian health policy on prenatal diagnosis requires reforming to make it much more widely available within the public health care sector.
Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil
Dillenburg, Crisle Vignol;Bandeira, Isabel Cristina;Tubino, Taiana Valente;Rossato, Luciana Grazziotin;Dias, Eleonora Souza;Bittelbrunn, Ana Cristina;Leistner-Segal, Sandra;
Genetics and Molecular Biology , 2012, DOI: 10.1590/S1415-47572012000400009
Abstract: 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.
The multidimensional evaluation and treatment of anxiety in children and adolescents: rationale, design, methods and preliminary findings
Salum, Giovanni Abrah?o;Isolan, Luciano Rassier;Bosa, Vera Lúcia;Tocchetto, Andrea Goya;Teche, Stefania Pigatto;Schuch, Ilaine;Costa, Jandira Rahmeier;Costa, Marianna de Abreu;Jarros, Rafaela Behs;Mansur, Maria Augusta;Knijnik, Daniela;Silva, Estácio Amaro;Kieling, Christian;Oliveira, Maria Helena;Medeiros, Elza;Bortoluzzi, Andressa;Toazza, Rudineia;Blaya, Carolina;Leistner-Segal, Sandra;Salles, Jerusa Fumagalli de;Silveira, Patrícia Pelufo;Goldani, Marcelo Zubaran;Heldt, Elizeth;Manfro, Gisele Gus;
Revista Brasileira de Psiquiatria , 2011, DOI: 10.1590/S1516-44462011000200015
Abstract: objective: this study aims to describe the design, methods and sample characteristics of the multidimensional evaluation and treatment of anxiety in children and adolescents - the protaia project. method: students between 10 and 17 years old from all six schools belonging to the catchment area of the primary care unit of hospital de clínicas de porto alegre were included in the project. it comprises five phases: (1) a community screening phase; (2) a psychiatric diagnostic phase; (3) a multidimensional assessment phase evaluating environmental, neuropsychological, nutritional, and biological factors; (4) a treatment phase, and (5) a translational phase. results: a total of 2,457 subjects from the community were screened for anxiety disorders. from those who attended the diagnostic interview, we identified 138 individuals with at least one anxiety disorder (apart from specific phobia) and 102 individuals without any anxiety disorder. among the anxiety cases, generalized anxiety disorder (n = 95; 68.8%), social anxiety disorder (n = 57; 41.3%) and separation anxiety disorder (n = 49; 35.5%) were the most frequent disorders. conclusion: the protaia project is a promising research project that can contribute to the knowledge of the relationship between anxiety disorders and anxiety-related phenotypes with several genetic and environmental risk factors.
Sozialfiguren des Protests und deren Bedeutung für die Entstehung und Stabilisierung sozialer Bewegungen: Das Beispiel der unabh ngigen DDR-Friedensbewegung The Impact of Key Figures on the Formation and Stabilization of Social Movements: The Independent Peace Movement in East Germany El impacto de figuras clave en la formación y estabilización de los movimientos sociales: El movimiento independiente de paz en Alemania del Este
Alexander Leistner
Forum : Qualitative Social Research , 2011,
Abstract: Der Aufsatz entfaltet am Beispiel von Schlüsselfiguren der unabh ngigen DDR-Friedensbewegung ein Tableau idealtypisch verdichteter Sozialfiguren des Protests, die in sozialen Bewegungen pr sent und wirksam sind und differenziert somit das Verst ndnis für die eigendynamische Formation und Stabilisierung sozialer Bewegungen. Diese Sozialfiguren haben, bezogen auf typische Probleme, eine je spezifische Funktion inne – und sind somit in unterschiedlichen Phasen der Bewegungsentwicklung unterschiedlich bedeutsam. Dazu z hlen: Pionier/in, Mentor/in, M rtyrer/in, Veteran/in, Vordenker/in, Vernetzer/in, Fürsprecher/in, Aktionist/in, Renegat/in, Agent Provocateur. Durch die Auswertung biografischer Interviews wird deutlich, dass die von den Sozialfiguren repr sentierten Probleme in allen Interviews pr sent und eng verwoben mit der Ausbildung und Stabilisierung einer Aktivist/innenidentit t sind. Die Typenbildung sch rft zugleich den Blick für die lokalen Konstellationsdynamiken und Akteursdominanzen innerhalb sozialer Bewegungen und deren Rückwirkungen auf die Entwicklung der Gesamtbewegung. URN: http://nbn-resolving.de/urn:nbn:de:0114-fqs1102147 By analyzing key figures of the GDR peace movement, this article illustrates that the conceptualization of social movements should be conducted in a differentiated manner. Based on empirical research of continuous activism in the peace movement, the paper identifies typical functional key figures at different stages in movement development, such as the pioneer, the mentor, the martyr, the veteran, the mastermind, the networker and bridge-builder, the facilitator and advocate, the renegade and the agent provocateur. Narrative-biographical interviews are analyzed by looking at the processes of reinforcing activist identity. I will show that these functional roles are crucial for the formation and stabilization of social movements. Furthermore, it is shown that the local constellation of key figures promotes the development of the movement as a whole. URN: http://nbn-resolving.de/urn:nbn:de:0114-fqs1102147 Este artículo pone en manifiesto que la conceptualización de los movimientos sociales debe llevarse a cabo de forma diferente, mediante el análisis de las figuras clave del movimiento por la paz de la Alemania del Este. Sobre la base de investigación empírica acerca del activismo continuo en el movimiento por la paz, el trabajo identifica las figuras típicas funcionales clave en las diferentes etapas en el desarrollo del movimiento, tales como el pionero, el mentor, el mártir, el veterano, el cerebro, el constructor de r
Conformal holonomy of C-spaces, Ricci-flat, and Lorentzian manifolds
Thomas Leistner
Mathematics , 2005,
Abstract: The main result of this paper is that a Lorentzian manifold is locally conformally equivalent to a manifold with recurrent lightlike vector field and totally isotropic Ricci tensor if and only if its conformal tractor holonomy admits a 2-dimensional totally isotropic invariant subspace. Furthermore, for semi-Riemannian manifolds of arbitrary signature we prove that the conformal holonomy algebra of a $C$-space is a Berger algebra. For Ricci-flat spaces we show how the conformal holonomy can be obtained by the holonomy of the ambient metric and get results for Riemannian manifolds and plane waves.
Towards a classification of Lorentzian holonomy groups
Thomas Leistner
Mathematics , 2003,
Abstract: If the holonomy representation of an $(n+2)$--dimensional simply-connected Lorentzian manifold $(M,h)$ admits a degenerate invariant subspace its holonomy group is contained in the parabolic group $(\mathbb{R} \times SO(n))\ltimes \mathbb{R}^n$. The main ingredient of such a holonomy group is the SO(n)--projection $G:=pr_{SO(n)}(Hol_p(M,h))$ and one may ask whether it has to be a Riemannian holonomy group. In this paper we show that this is the case if $G\subset U(n/2)$ or if the irreducible acting components of $G$ are simple.
Towards a classification of Lorentzian holonomy groups. Part II: Semisimple, non-simple weak-Berger algebras
Thomas Leistner
Mathematics , 2003,
Abstract: The holonomy group of an (n+2)-dimensional simply-connected, indecomposable but non-irreducible Lorentzian manifold (M,h) is contained in the parabolic group $(\mathbb{R} \times SO(n))\ltimes \mathbb{R}^n$. The main ingredient of such a holonomy group is the SO(n)--projection $G:=pr_{SO(n)}(Hol_p(M,h))$ and one may ask whether it has to be a Riemannian holonomy group. In this paper we show that this is always the case, completing our results of the first part math.DG/0305139. We draw consequences for the existence of parallel spinors on Lorentzian manifolds.
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