8 documents found, page 1 of 1
Updated birth prevalence and relative frequency of mucopolysaccharidoses across...
Josahkian,Juliana Alves; Trapp,Franciele Barbosa; Burin,Maira Graeff; Michelin-Tirelli,Kristiane; Magalhães,Ana Paula Pereira Scholz deAbstract 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 nati...
Population medical genetics: translating science to the community
Giugliani,Roberto; Bender,Fernanda; Couto,Rowena; Bochernitsan,Aline; Brusius-Facchin,Ana Carolina; Burin,Maira; Amorim,Tatiana; Acosta,Angelina XavierAbstract 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 proport...
Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potenti...
Brusius-Facchin,Ana Carolina; Siebert,Marina; Leão,Delva; Malaga,Diana Rojas; Pasqualim,Gabriela; Trapp,Franciele; Matte,Ursula; Giugliani,RobertoAbstract 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 p...
Information and Diagnosis Networks – tools to improve diagnosis and treatment f...
Vieira,Taiane Alves; Trapp,Franciele Barbosa; Souza,Carolina Fischinger Moura de; Faccini,Lavínia Schuler; Jardim,Laura BannachAbstract 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 an...
Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 i...
Dillenburg,Crisle Vignol; Bandeira,Isabel Cristina; Tubino,Taiana Valente; Rossato,Luciana Grazziotin; Dias,Eleonora Souza; Bittelbrunn,Ana CristinaCertain 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 BRC...
Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urina...
Viana,Gustavo M.; Lima,Nathália O. de; Cavaleiro,Rosely; Alves,Erik; Souza,Isabel C.N.; Feio,Raimunda; Leistner-Segal,Sandra; Schwartz,IdaMucopolysaccharidoses (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 ...
The multidimensional evaluation and treatment of anxiety in children and adoles...
Salum,Giovanni Abrahão; Isolan,Luciano Rassier; Bosa,Vera Lúcia; Tocchetto,Andrea Goya; Teche,Stefania Pigatto; Schuch,Ilaine; Costa,Jandira RahmeierOBJECTIVE: 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...
Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year exp...
Kessler,Rejane G.; Sanseverino,Maria Teresa V.; Leistner-Segal,Sandra; Magalhães,José A.A.; Giugliani,RobertoThe 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...