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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. |
| 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Information services; Medical Genetics; Diagnostic networks; Rare diseases; Reference centers. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200155 |
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| Schuler-Faccini,Lavínia; Osorio,Claudio Maria; Romariz,Flavia; Paneque,Milena; Sequeiros,Jorge; Jardim,Laura Bannach. |
| Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testing (PST) can be used to identify persons at risk of developing the disease. Genetic counseling provides patients with information about the disease, genetic risks, PST, and the decision-making process. In this study, we present the protocol used in PST for MJD and the relevant observations from two centers: Brazil (Porto Alegre) and Portugal (Porto). We provide a case report that illustrates the significant ethical and psychological issues... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: SCA3; Machado-Joseph; Presymptomatic test; Ataxia; Genetic testing; Psychosocial; Psychological issues. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200012 |
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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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Population Medical Genetics; Genetic clusters; Founder effect; Population isolates. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200312 |
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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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CAG expansion; Huntington’s disease; Intergenerational instability; Minimal prevalence. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300329 |
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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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Biomarkers; Neurophysiology; Machado-Joseph disease; Spinocerebellar ataxia type 3. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200238 |
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