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| Registros recuperados: 31 | |
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| Giugliani,Roberto; Villarreal,Martha Luz Solano; Valdez,C. Araceli Arellano; Hawilou,Antonieta Mahfoud; Guelbert,Norberto; Garzón,Luz Norela Correa; Martins,Ana Maria; Acosta,Angelina; Cabello,Juan Francisco; Lemes,Aída; Santos,Mara Lucia Schmitz Ferreira; Amartino,Hernán. |
| This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment. Early diagnosis is vital for disease management. Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hunter syndrome; Lysosomal disease; Iduronate-2-sulfatase; Enzyme replacement therapy; Treatment guidelines. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000300003 |
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| Palmero,Edenir Inêz; Alemar,Bárbara; Schüler-Faccini,Lavínia; Hainaut,Pierre; Moreira-Filho,Carlos Alberto; Ewald,Ingrid Petroni; Santos,Patricia Koehler dos; Ribeiro,Patricia Lisbôa Izetti; Oliveira Netto,Cristina Brinkmann de; Calvez-Kelm,Florence Le; Tavtigian,Sean; Cossio,Silvia Liliana; Giugliani,Roberto; Caleffi,Maira; Ashton-Prolla,Patricia. |
| Abstract In Brazil, breast cancer is a public health care problem due to its high incidence and mortality rates. In this study, we investigated the prevalence of hereditary breast cancer syndromes (HBCS) in a population-based cohort in Brazils southernmost capital, Porto Alegre. All participants answered a questionnaire about family history (FH) of breast, ovarian and colorectal cancer and those with a positive FH were invited for genetic cancer risk assessment (GCRA). If pedigree analysis was suggestive of HBCS, genetic testing of the BRCA1, BRCA2, TP53, and CHEK2 genes was offered. Of 902 women submitted to GCRA, 214 had pedigrees suggestive of HBCS. Fifty of them underwent genetic testing: 18 and 40 for BRCA1/BRCA2 and TP53 mutation screening,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Breast cancer predisposition syndrome; Hereditary breast cancer; Genetic cancer risk assessment. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200210 |
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| Camargo Neto,Eurico; Schulte,Jaqueline; Pereira,Jamile; Bravo,Heydy; Sampaio-Filho,Claudio; Giugliani,Roberto. |
| Abstract We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with these diseases and was used to test dried blood spot samples obtained from 10,527 newborns aged 2 to 14 days. The digital microfluidic technology shows potential for a simple, rapid and high-throughput screening for these four diseases in a standard neonatal screening laboratory. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Lysossomal storage diseases; Neonatal screening; Digital microfluidics; Brazil. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300414 |
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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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| Baiotto,Cléia; Sperb,Fernanda; Matte,Ursula; Silva,Cláudia Dornelles da; Sano,Renata; Coelho,Janice Carneiro; Giugliani,Roberto. |
| Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country. To assess the incidence of this disorder, 390 blood donors were tested for the presence of two common mutations (1622-1627insG and R59H) in the GLB1 gene. Another group, consisting of 26 GM1 patients, and the blood donors were tested for the presence of two polymorphisms (R521C and S532G), in an attempt to elucidate whether there is a founder effect. The frequencies of the R59H and 1622-1627insG mutations among the GM1 patients studied were 19.2% and 38.5%, respectively. The frequency of polymorphism S532G... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: GM1 gangliosidosis; Beta-galactosidase; GLB1 gene; Founder effect; Linkage disequilibrium. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000100009 |
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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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Ion Torrent; Molecular diagnostics; Next-generation sequencing; Lysosomal storage disorders; Validation. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200197 |
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| Poletto,Edina; Pasqualim,Gabriela; Giugliani,Roberto; Matte,Ursula; Baldo,Guilherme. |
| Abstract Lysosomal storage diseases (LSDs) are inherited conditions caused by impaired lysosomal function and consequent substrate storage, leading to a range of clinical manifestations, including cardiovascular disease. This may lead to significant symptoms and even cardiac failure, which is an important cause of death among patients. Currently available treatments do not completely correct cardiac involvement in the LSDs. Gene therapy has been tested as a therapeutic alternative with promising results for the heart disease. In this review, we present the results of different approaches of gene therapy for LSDs, mainly in animal models, and its effects in the heart, focusing on protocols with cardiac functional analysis. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Lysosomal storage disease; Gene therapy; Cardiovascular disease; Animal models; Heart. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200261 |
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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. |
| 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,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Alpha-1-antitrypsin deficiency; Liver disease; Pediatric patients; SERPINA1. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300005 |
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| Dieter,Tatiana; Matte,Ursula da Silveira; Schwartz,Ida Vanessa; Tomatsu,Shunji; Giugliani,Roberto. |
| Morquio A Syndrome (mucopolysaccharidosis IVA - MPS IVA, OMIM# 253000) is an autosomal recessive inborn error of metabolism caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). We investigated five unrelated Brazilian MPS IVA families for mutations in exons 4, 5, 9 and 10 of the GALNS gene. Six out of the 10 mutant alleles were identified. Taken together with a previous study, which included six unrelated families, common mutations among Brazilian patients were p.N164T, p.G116S and p.G301C. Among one hundred control subjects three novel silent mutations were found (p.A107A; GCC -> GCT, p.Y108Y; TAC -> TAT, p.P357P; CCG -> CCA). Screening starting with exons 4, 5, 9, 10 and 11 may be a good strategy for genotyping of... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: GALNS mutations; GALNS mutation detection; Mucopolysaccharidosis IVA. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000400004 |
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| Registros recuperados: 31 | |
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