|
|
|
| Registros recuperados: 31 | |
|
|
| Castro,Simone M. de; Weber,Raquel; Matte,Úrsula; Giugliani,Roberto. |
| Glucose-6-phosphate dehydrogenase (G6PDH; EC 1.1.1.49) deficiency is one of the most common human enzymopathies throughout the world. Although most affected individuals are asymptomatic, there is a risk of neonatal jaundice and acute hemolytic anemia which can be triggered by infection, some pharmaceuticals and, in older individuals, eating fava beans. We characterized the molecular basis of G6PDH deficiency in a sample of 348 adults from Porto Alegre (population about 1.5 million), the capital of the southernmost Brazilian state of Rio Grande do Sul. Genomic DNA was extracted from peripheral blood leukocytes. We studied the three G6PDH mutations that appear to be the most frequent in Southern Brazil, the G202A and A376G A minus (A-) variants and the C563T... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: G6PDH deficiency; Hemolytic anemia; Pentose pathway. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100003 |
| |
|
|
| Poswar,Fabiano de Oliveira; Vairo,Filippo; Burin,Maira; Michelin-Tirelli,Kristiane; Brusius-Facchin,Ana Carolina; Kubaski,Francyne; Souza,Carolina Fischinger Moura de; Baldo,Guilherme; Giugliani,Roberto. |
| Abstract Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, membrane-associated transporters or other non-enzymatic proteins. Interest in the LD field is growing each year, as more conditions are, or will soon be treatable. In this article, we review the diagnosis of LDs, from clinical suspicion and screening tests to the identification of enzyme or protein deficiencies and molecular genetic diagnosis. We also cover the treatment approaches that are currently available or in development, including hematopoietic stem cell transplantation, enzyme replacement therapy, small molecules, and gene therapy. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Lysosomal storage diseases; Neonatal screening; Hematopoietic stem cell transplantation; Enzyme replacement therapy; Gene therapy. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200165 |
| |
|
| |
|
|
| Vargas,Carmen R.; Coelho,Daniella de M.; Barschak,Alethéa G.; Souza,Carolina F.M. de; Puga,Ana C.S.; Schwartz,Ida V.D.; Jardim,Laura; Giugliani,Roberto. |
| Adrenoleukodystrophy (X-ALD) is an X-linked recessively inherited peroxisomal disorder, phenotypically heterogeneous, characterized by progressive white-matter demyelination of the central nervous system and adrenocortical insufficiency. We investigated 15 male X-ALD patients varying in age from 7 to 39, diagnosed among 108 suspected patients referred for investigation. Plasma levels of very long chain fatty acids (VLCFA) were measured at our laboratory using gas chromatography (GC). Eleven cases of childhood X-ALD and four cases of adrenomyeloneuropathy (AMN) were diagnosed. Adrenal leukodystrophy insufficiency and limb weakness were the most frequent symptoms, appearing in 12, 8 and 6 of the patients, respectively. Physician awareness of X-ALD seems... |
| Tipo: Info:eu-repo/semantics/article |
|
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200002 |
| |
|
|
| 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 |
| |
|
|
| 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 |
| |
|
|
| 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 |
| |
|
|
| 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 |
| |
|
|
| Palmero,Edenir Inêz; Campacci,Natalia; Schüler-Faccini,Lavinia; Giugliani,Roberto; Rocha,José Claudio Casali da; Vargas,Fernando Regla; Ashton-Prolla,Patricia. |
| Abstract In Brazil, the population in general has little knowledge about genetic risks, as well as regarding the role and importance of the Cancer Genetic Counseling (CGC). The goal of this study was to evaluate cancer-related worry and cancer risk perception during CGC sessions in Brazilian women at-risk for hereditary breast cancer. This study was performed in 264 individuals seeking CGC for hereditary breast cancer. Both cancer-affected and unaffected individuals were included. As results, individuals with and without cancer reported different motivations for seeking CGC and undergoing genetic testing. A correlation was observed between age at the first CGC session and age at which the closest relative was diagnosed with cancer. Multivariate analysis... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Hereditary breast cancer; Hereditary cancer; Cancer-related worry; Cancer risk perception; Genetic counselling. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400104 |
| |
|
|
| 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 |
| |
|
|
| Karam,Simone M.; Costa,Jaderson C.; Jardim,Laura; Pires,Ricardo F.; Lehmann,Alan R.; Giugliani,Roberto. |
| Cockayne syndrome (CS) is an autosomal recessive disorder characterized by dwarfism, growth deficiency, neurological deterioration, skin photosensitivity and a characteristic progressive facial appearance. In the present study we report the first Brazilian CS family in which diagnosis was confirmed by the demonstration of decreased RNA synthesis in cultured fibroblasts exposed to UV-C radiation. Despite the progressive course of the disease and the unavailability of an effective treatment, diagnosis may be very important for the benefits to be gained by the afflicted family from genetic counseling and/or prenatal diagnosis. |
| Tipo: Info:eu-repo/semantics/other |
|
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200005 |
| |
|
|
| Giugliani,Luciana; Vanzella,Claudia; Zambrano,Marina Bauer; Donis,Karina Carvalho; Wallau,Thaís Klassmann Wendland; Costa,Fernando Machado da; Giugliani,Roberto. |
| Abstract Rare diseases are defined as conditions with a prevalence of no more than 6.5 per 10,000 people. Although each rare disease individually affects a small number of people, collectively, the 6,000 to 8,000 rare conditions (80% of them with genetic cause) affect around 8% of the world’s population. Research about the natural history and underlying pathophysiological mechanisms of rare diseases, as well as clinical trials with new drugs, are important and necessary to develop new strategies for the treatment of these conditions. This report describes the experience of a clinical research group working with rare diseases in a reference center for lysosomal diseases in Brazil (Medical Genetics Service, Hospital de Clínicas de Porto Alegre). The... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Clinical research; Clinical investigation; Rare diseases; Lysosomal storage diseases; Enzyme replacement therapy. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200305 |
| |
|
|
| Leistner,Sandra; Giugliani,Roberto. |
| Mucopolysaccharidoses (MPS) constitute, owing to their biochemical, genetical and clinical characteristics, a large and heterogeneous subgroup among the lysosomal storage diseases (LSD). They are caused by deficiency of specific enzymes, which are responsible for glycosaminoglycan (GAG) breakdown during different steps of its degradation pathway. MPS are responsible for about 32% of inborn errors of metabolism (IEM) and 54% of LSD identified in our laboratory (Regional Laboratory of Inborn Errors of Metabolism (RLIEM), Medical Genetics Unit, Hospital de Clínicas in Porto Alegre), which is a reference center for LSD diagnosis in Brazil. Therefore, we decided to set up a specific laboratory routine for detection and differential diagnosis of MPS in patients... |
| Tipo: Info:eu-repo/semantics/article |
|
| Ano: 1998 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100028 |
| |
|
|
| Rojas-Martínez,Augusto; Giraldo-Ríos,Alejandro; Jiménez-Arce,Gerardo; Falcón de Vargas,Aída; Giugliani,Roberto. |
| Latin America and the Caribbean region make up one of the largest areas of the world, and this region is characterized by a complex mixture of ethnic groups sharing Iberian languages. The area is comprised of nations and regions with different levels of social development. This region has experienced historical advances in the last decades to increase the minimal standards of quality of life; however, several factors, such as concentrated populations in large urban centers and isolated and poor communities, still have an important impact on medical services, particularly genetics services. Latin American researchers have greatly contributed to the development of human genetics and historic inter-ethnic diversity, and the multiplicity of geographic areas... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Latin America and the Caribbean; Human and medical genetics; International organization; Research cooperation; Education. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200017 |
| |
|
|
| Vargas,Carmen R.; Barschak,Alethéa G.; Coelho,Daniella M.; Furlanetto,Vivian; Souza,Carolina F.M. de; Karam,Simone M.; Jardim,Laura; Wajner,Moacir; Giugliani,Roberto. |
| X-Linked adrenoleukodystrophy (X-ALD) is a hereditary disorder of the peroxisomal metabolism biochemically characterized by the accumulation of very long chain fatty acids (VLCFA) in tissues and biological fluids. The major accumulated acids are hexacosanoic acid (C26:0) and tetracosanoic acid (C24:0). The disorder is characterized clinically by central and peripheral demyelination and adrenal insufficiency closely related to the accumulation of fatty acids. The incidence of X-ALD is estimated to be 1:25,000 males. At least six phenotypes can be distinguished. The most common phenotypes are childhood cerebral ALD and adrenomyeloneuropathy (AMN). The recommended therapy consists of the use of the glyceroltrioleate/glyceroltrierucate (GTO/GTE) mixture, known... |
| Tipo: Info:eu-repo/semantics/article |
|
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000400001 |
| |
|
| |
|
| |
|
|
| Kessler,Rejane G.; Sanseverino,Maria Teresa V.; Leistner-Segal,Sandra; Magalhães,José A.A.; Giugliani,Roberto. |
| 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Prenatal diagnosis; Chromosomal abnormalities; Fetal malformations. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000500004 |
| |
|
|
| 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. |
| 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mucopolysaccharidosis; Enzyme replacement therapy; Mutations; Glycosaminoglycans. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300007 |
| |
|
|
| Coelho,Janice Carneiro; Giugliani,Roberto. |
| Skin biopsies are frequently indicated for investigation and/or confirmation of genetic disorders. Although relatively simple and noninvasive, these procedures require care in order to increase probability of success and to avoid patient discomfort and unnecessary repeated analyses and associated laboratory fees. The present report highlights the importance of skin biopsies in genetic disorder diagnosis and presents general rules for collecting, storing, transporting and processing samples. We recommend its reading to professionals intending to use this important and sometimes fundamental diagnostic tool. |
| Tipo: Info:eu-repo/semantics/article |
|
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200004 |
| |
| Registros recuperados: 31 | |
|
|
|
