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au:LEISTNER-SEGAL, SANDRA

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Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient’s profile submitted to phlebotomy in two reference centers in southern Brazil
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Kersting, Nathalia

; Fontana, Juliana Cristine

; Athayde, Fabiane Pohlmann de

; Carlotto, Fernanda Marcante

; Machado, Bruna Accorsi

; Araújo, Cristiane da Silva Rodrigues de

; Sekine, Leo

; Onsten, Tor Gunnar Hugo

; Leistner-Segal, Sandra

Genetics and Molecular Biology

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jan 2023, Volume 46 N. 2 elocation e20220230

Abstract: En | Text: En | PDF: En

Abstract Hereditary Hemochromatosis is a disorder characterized by iron deposition in several organs and hyperferritinemia. The most studied variants are linked to the HFE gene. In Brazil, surveys that characterize this population are scarce, with no sampling in the state of Rio Grande do Sul. Our objective is to carry out a data collection focusing on the profile of this population and the influence of the most frequently HFE variants. Two centers were enrolled: Hospital de Clínicas de Porto Alegre and Hospital São Vicente de Paulo. Patients with hyperferritinemia and undergoing phlebotomy were invited. Clinical data were collected, including HFE investigation. Among the descriptive data, the allele frequency of the C282Y variant (0.252) stands out, which differs from the national scenario. Systemic arterial hypertension was the most cited comorbidity. Differences between centers were observed, highlighting higher frequency of H63D cases in HSVP (p<0.01). Genotypes were stratified according to deleterious effect of C282Y variant. Higher transferrin saturation and number of phlebotomies were observed in the C282Y/C282Y cases (p<0.001). Positive family history for hyperferritinemia was more prevalent in compound heterozygotes (p<0.01). The results presented confirm the importance of encouraging such studies and reiterate the need for greater attention to this population.

https://doi.org/10.1590/1678-4685-gmb-2022-0230

Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil
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Dick-Guareschi, Jéssica

; Fontana, Juliana Cristine

; Sanseverino, Maria Teresa Vieira

; Kubaski, Francyne

; Sekine, Leo

; Mesquita, Nanci Félix

; Onsten, Tor Gunnar Hugo

; Leistner-Segal, Sandra

Hematology, Transfusion and Cell Therapy

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sep 2022, Volume 44 N. 3 Pages 379 - 385

Abstract: En | Text: En | PDF: En

ABSTRACT Introduction: Thromboembolic events occur due to an imbalance in the hemostasis and some factors associated with this condition can be inherited. In order to evaluate the frequency of genotypes considered to be common hereditary risk factors for thrombophilia associated with venous thrombosis (g.1691G>A and g.20210G>A) and hyperhomocysteinemia (g.677C>T and g.1298A>C), samples from voluntary healthy blood donors at the Hospital de Clínicas de Porto Alegre were tested. Methods: We examined 325 blood samples from blood donors collected from October 2017 to July 2018. Blood was collected on filter paper and the DNA was extracted for single nucleotide polymorphisms (SNPs) analysis using the qualitative real time polymerase chain reaction. Results: The calculated frequencies of each genetic variant in heterozygosity were 4% for the FV gene (g.1691G> A), 4% for the F2 gene (g.20210G> A) and 42% and 39% for methylenetetrahydrofolate reductase (MTHFR), g.677C>T and g.1298A>C, respectively. Only the genetic variants of MTHFR were found in homozygosity, with frequencies of 14% and 6% (g.677C>T and g.1298A>C), respectively. Discussion: Altogether, these results describe the frequencies of genetic variants associated with venous thrombosis and hyperhomocysteinemia in the analyzed group and are important to enhance our current knowledge about the genetic profiles of Brazilian blood donors.

https://doi.org/10.1016/j.htct.2021.01.010

Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
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Josahkian, Juliana Alves

; Trapp, Franciele Barbosa

; Burin, Maira Graeff

; Michelin-Tirelli, Kristiane

; Magalhães, Ana Paula Pereira Scholz de

; Sebastião, Fernanda Medeiros

; Bender, Fernanda

; Mari, Jurema Fátima De

; Brusius-Facchin, Ana Carolina

; Leistner-Segal, Sandra

; Málaga, Diana Rojas

; Giugliani, Roberto

Genetics and Molecular Biology

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2021, Volume 44 N. 1 elocation e20200138

Abstract: En | Text: En | PDF: En

Abstract The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, and the totality of cases may be underestimated. To determine the epidemiological profile of MPS in each Brazilian region, we analyzed data collected between 1982 and 2019 by a national reference laboratory and identified 1,652 patients. Using data between 1994 and 2018, the birth prevalence (by 100,000 live births) for MPS was 1.57. MPS II was the most common type of MPS in Brazil, and its birth prevalence was 0.48 (0.94 considering only male births). Regarding the number of cases per region, MPS II was the most frequent in the North and Center-West (followed by MPS VI), and also in the Southeast (followed by MPS I); MPS I and MPS II were the most common types in the South; and MPS VI was the most common in the Northeast (followed by MPS II). The differences observed in the relative frequencies of MPS types across Brazilian regions are likely linked to founder effect, endogamy, and consanguinity, but other factors may be present and need further investigation.

https://doi.org/10.1590/1678-4685-gmb-2020-0138 934 downloads

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

Genetics and Molecular Biology

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2019, Volume 42 N. 1 Pages 312 - 320

Abstract: En | Text: En | PDF: En

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

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart
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Brusius-Facchin, Ana Carolina

; Siebert, Marina

; Leão, Delva

; Malaga, Diana Rojas

; Pasqualim, Gabriela

; Trapp, Franciele

; Matte, Ursula

; Giugliani, Roberto

; Leistner-Segal, Sandra

Genetics and Molecular Biology

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2019, Volume 42 N. 1 Pages 207 - 214

Abstract: En | Text: En | PDF: En

Abstract Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs). A defect in the activity of these enzymes will result in the abnormal accumulation of GAGs inside the lysosomes of most cells, inducing progressive cellular damage and multiple organ failure. DNA samples from 70 patients with biochemical diagnosis of different MPSs genotypes confirmed by Sanger sequencing were used to evaluate a Next Generation Sequencing (NGS) protocol. Eleven genes related to MPSs were divided into three different panels according to the clinical phenotype. This strategy led to the identification of several pathogenic mutations distributed across all exons of MPSs-related genes. We were able to identify 96% of all gene variants previously identified by Sanger sequencing, showing high sensitivity in detecting different types of mutations. Furthermore, new variants were not identified, representing 100% specificity of the NGS protocol. The use of this NGS approach for genotype identification in MPSs is an attractive option for diagnosis of patients. In addition, the MPS diagnosis workflow could be divided in a two-tier approach: NGS as a first-tier followed by biochemical confirmation as a second-tier.

https://doi.org/10.1590/1678-4685-gmb-2018-0102 863 downloads

Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
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Vieira, Taiane Alves

; Trapp, Franciele Barbosa

; Souza, Carolina Fischinger Moura de

; Faccini, Lavínia Schuler

; Jardim, Laura Bannach

; Schwartz, Ida Vanessa Doederlein

; Riegel, Mariluce

; Vargas, Carmen Regla

; Burin, Maira Graeff

; Leistner-Segal, Sandra

; Ashton-Prolla, Patrícia

; Giugliani, Roberto

Genetics and Molecular Biology

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2019, Volume 42 N. 1 Pages 155 - 164

Abstract: En | Text: En | PDF: En

Abstract Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many areas on the country do not have adequate medical genetics support, networks were designed to extend the service of the MGS/HCPA reference center. This paper presents the information and diagnosis networks that have their headquarters at MGS/HCPA: SIAT (National Information System on Teratogenic Agents), SIEM (Information Service on Inborn Errors of Metabolism), Alô Genética (Hello Genetics - Medical Genetics Information Service for Primary Health Care Professionals); Rede MPS Brasil (MPS-Mucopolysaccharidosis Brazil Network); Rede EIM Brasil (IEM-Inborn Errors of Metabolism Brazil Network), Rede NPC Brasil (Niemann-Pick C - NPC Brazil Network), Rede DLD Brasil (LSD-Lysosomal Storage Disorders Brazil Network), Rede DXB (MSUD-Maple Syrup Urine Disease Network), RedeBRIM (Brazilian Network of Reference and Information in Microdeletion Syndromes Project), Rede Neurogenética (Neurogenetics Network), and Rede Brasileira de Câncer Hereditário (Brazilian Hereditary Cancer Network). These tools are very useful to provide access to a qualified information and/or diagnostic service for specialized and non-specialized health services, bypassing difficulties that preclude patients to access reference centers.

https://doi.org/10.1590/1678-4685-gmb-2018-0214 1176 downloads

What can HPA axis-linked genes tell us about anxiety disorders in adolescents?
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Bortoluzzi, Andressa

; Blaya, Carolina

; Rosa, Eduarda Dias da

; Paim, Mariana

; Rosa, Virgínia

; Leistner-Segal, Sandra

; Manfro, Gisele Gus

Trends in Psychiatry and Psychotherapy

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dec 2015, Volume 37 N. 4 Pages 232 - 237

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

Introdução: Os transtornos de ansiedade (TA) compartilham características tanto de ansiedade quanto de medo, ambos associados à resposta ao estresse. O eixo hipotálamo-pituitária-adrenal (HPA) é considerado a principal via biológica do sistema do estresse, e sabe-se que respostas inadequadas aos estímulos ambientais podem estar relacionadas à vulnerabilidade genética individual em genes do eixo HPA. Apesar da plausibilidade biológica de uma relação entre o eixo HPA e os TA, poucos estudos avaliaram a associação entre os polimorfismos genéticos de genes do eixo HPA e esse transtorno psiquiátrico complexo. Objetivo: Investigar, em adolescentes, se os TA estão associados com polimorfismos em genes do eixo HPA. Métodos: Nosso estudo é uma avaliação transversal realizada em uma amostra comunitária de 228 adolescentes (131 casos de TA). Foi extraído DNA de saliva e foram genotipados os polimorfismos do eixo HPA (FKBP5: rs3800373, rs9296158, rs1360780, rs9470080 e rs4713916; NR3C1: rs6198; CRHR1: rs878886; e SERPINA6: rs746530), por reação em cadeia da polimerase (PCR) em tempo real. O diagnóstico e a gravidade dos TA foram avaliados pelo instrumentos The Schedule for Affective Disorder and Schizophrenia for School-Age Children - Present and Lifetime (K-SADS-PL) e Screen for Child and Anxiety related Emotional Disorders (SCARED). Resultados: Não foram encontradas associações entre os TA e os polimorfismos genéticos do eixo HPA (p > 0.05). Conclusão: Segundo nosso conhecimento, este é o primeiro estudo que avaliou, em adolescentes, esses polimorfismos genéticos específicos do eixo HPA e sua relação com os TA, o que nos encoraja a delinear novas pesquisas sobre o assunto.

Introduction: Anxiety disorders (AD) share features of both anxiety and fear linked to stress response. The hypothalamic-pituitary-adrenal (HPA) axis is considered the core biological pathway of the stress system and it is known that an inappropriate response to environmental stimuli may be related to individual genetic vulnerability in HPA-linked genes. Despite the biological plausibility of a relationship between the HPA axis and AD, few studies have investigated associations between genetic polymorphisms linked to the HPA axis and this complex disorder. Objective: To investigate whether AD are associated with genetic polymorphisms in HPA-linked genes in adolescents. Methods: Our study consisted of a cross-sectional evaluation of a community sample comprising a total of 228 adolescents (131 cases of AD). We extracted DNA from saliva and genotyped polymorphisms in HPA-linked genes (FKBP5: rs3800373, rs9296158, rs1360780, rs9470080 and rs4713916; NR3C1: rs6198; CRHR1: rs878886; and SERPINA6: rs746530) with real time polymerase chain reaction (PCR). The instruments used to diagnose and assess the severity of AD were the Schedule for Affective Disorder and Schizophrenia for School-Age Children - Present and Lifetime (K-SADS-PL) and the Screen for Child and Anxiety related Emotional Disorders (SCARED). Results: We failed to detect any associations between AD and genetic polymorphisms in HPA-linked genes (p > 0.05). Conclusion: To our knowledge, this is the first study evaluating these specific polymorphisms in relation to AD in adolescents, which encourages us to design further research on the subject.

https://doi.org/10.1590/2237-6089-2015-0035 2978 downloads

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

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2012, Volume 35 N. 3 Pages 599 - 602

Abstract: En | Text: En | PDF: En

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.

4045 downloads Cited 2 times in SciELO

The multidimensional evaluation and treatment of anxiety in children and adolescents: rationale, design, methods and preliminary findings
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Salum, Giovanni Abrahão

; 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

Brazilian Journal of Psychiatry

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jun 2011, Volume 33 N. 2 Pages 181 - 195

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

OBJETIVO: o objetivo deste estudo é descrever o desenho, os métodos e as características amostrais da Avaliação Multidimensional e Tratamento da Ansiedade em Crianças e Adolescentes - Projeto PROTAIA. MÉTODO: Escolares entre 10 e 17 anos de todas as escolas pertencentes à área de abrangência da unidade de atenção primária do Hospital de Clínicas de Porto Alegre foram incluídos no projeto. O projeto compreende cinco fases: 1) triagem comunitária; 2) diagnóstico psiquiátrico; 3) avaliação multidimensional, incluindo fatores ambientais, neuropsicológicos, nutricionais e marcadores biológicos; 4) tratamento; e 5) fase translacional. RESULTADOS: Um total de 2.457 sujeitos foram triados para transtornos de ansiedade na comunidade. Dos indivíduos que compareceram à avaliação diagnóstica, 138 foram detectados com ao menos um transtorno de ansiedade (excluindo fobia específica) e 102 indivíduos sem nenhum transtorno de ansiedade. Dentre os casos de ansiedade, o transtorno de ansiedade generalizada (n = 95; 68,8%), transtorno de ansiedade social (n = 57; 41,3%) e o transtorno de ansiedade de separação (n = 49; 35,5%) foram os mais frequentes. CONCLUSÃO: O projeto PROTAIA é um projeto de pesquisa promissor que pode contribuir para o entendimento da relação entre transtornos de ansiedade e fenótipos relacionados à ansiedade com vários fatores de risco, tanto genéticos quanto ambientais.

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.

10782 downloads Cited 7 times in SciELO

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Detection of human bocavirus and human metapneumovirus by real-time PCR from patients with respiratory symptoms in Southern Brazil
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Pilger, Diogo André

; Cantarelli, Vlademir Vicente

; Amantea, Sérgio Luis

; Leistner-Segal, Sandra

Memórias do Instituto Oswaldo Cruz

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feb 2011, Volume 106 N. 1 Pages 56 - 60

Abstract: En | Text: En | PDF: En

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.

3415 downloads Cited 5 times in SciELO

11.

Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy
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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

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2011, Volume 34 N. 3 Pages 410 - 415

Abstract: En | Text: En | PDF: En

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.

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12.

Emerging research groups studying Brazilian psychiatric genetics
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Salum, Giovanni Abrahão

; Blaya, Carolina

; Manfro, Gisele Gus

; Segal, Jair

; Leistner-Segal, Sandra

Brazilian Journal of Psychiatry

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mar 2010, Volume 32 N. 1 Pages 91 - 92

Abstract: En | Text: En | PDF: En

1546 downloads Cited 1 time in SciELO

13.

Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospital
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Kessler, Rejane G.

; Sanseverino, Maria Teresa V.

; Leistner-Segal, Sandra

; Magalhães, José A.A.

; Giugliani, Roberto

Genetics and Molecular Biology

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dec 2008, Volume 31 N. 4 Pages 829 - 833

Abstract: En | Text: En | PDF: En

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.

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14.

Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease
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Baldo, Guilherme

; Ayala, Ana

; Melendez, Matias

; Nonnemacher, Karina

; Lima, Luciane

; Segal, Sandra Leistner

; Kieling, Carlos

; Vieira, Sandra Gonçalves

; Ferreira, Cristina Targa

; Silveira, Themis Reverbel da

; Giugliani, Roberto

; Matte, Ursula

Genetics and Molecular Biology

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- Sobre o periódico
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2008, Volume 31 N. 2 Pages 423 - 426

Abstract: En | Text: En | PDF: En

Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1) deficiency is one of the main genetic causes related to liver disease in children. In SERPINA1 deficiency the most frequent SERPINA1 alleles found are the PI*S and PI*Z alleles. We used the polymerase chain reaction and the amplification created restriction site (ACRS) technique to investigate the prevalence of the PI*S and PI*Z alleles in a group of Brazilian children (n = 200) with liver disease and established the general frequency of the PI*S allele in our population. We found a significant association of the PI*Z allele and liver disease, but no such relationship was found for the PI*S allele. Our results show that SERPINA1 deficiency due to the PI*Z allele, even when heterozygous, is a frequent cause of liver disease in our group of Brazilian children but that the PI*S allele does not confer an increased risk of hepatic disorders in our group of Brazilian children.

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