66 documents found, page 1 of 7
Clinical and diagnostic aspects of Fabry disease management: a narrative review...
Giugliani,Roberto; Marques,Sandra; Andrade,Luis G. M. de; Pessoa,André; Vaisbich,Maria H.; Blum,Angélica; Tenório,Fernanda; Rosa Neto,Nilton SABSTRACT Research on the genetics, epidemiology, and clinical manifestations of Fabry disease (FD) has increased significantly in recent years. However, some relevant clinical questions still need to be answered to develop better approaches to patient management. This review focuses on answering specific questions raised by Brazilian experts based on their experience in diagnosing and managing patients with FD....
COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a re...
Sebastião,Fernanda Medeiros; Michelin-Tirelli,Kristiane; Bender,Fernanda; Lopes,Franciele Fátima; Moraes,Inamara; Kubaski,Francyne; Giugliani,RobertoAbstract The COVID-19 pandemic led to the reorganization of health care in several countries, including Brazil. Inborn Errors of Metabolism (IEM) are a group of rare and difficult to diagnose genetic diseases caused by pathogenic variants in genes that code for enzymes, cofactors, or structural proteins affecting different metabolic pathways. The aim of this study was to evaluate how COVID-19 affected the diagn...
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...
Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried...
Sebastião,Fernanda Medeiros; Burin,Maira Graeff; Civallero,Gabriel; Tirelli,Kristiane Michelin; Sitta,Angela; Coelho,Daniella de MouraAbstract Phenylketonuria (PKU) is caused by deficient activity of phenylalanine hydroxylase (PAH), responsible for the conversion of phenylalanine (Phe) to tyrosine (Tyr). Monitoring of patients with PKU requires the measurement of Phe in plasma using high-performance liquid chromatography (HPLC) or in dried blood spots (DBS) using different techniques to adjust treatment strategy. The objective of this study w...
Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysacchari...
Escolar,Maria; Bradshaw,Jessica; Byers,Valerie Tharp; Giugliani,Roberto; Golightly,Lynn; Lourenço,Charles Marques; McDonald,Kimberly; Muschol,NicoleAbstract Mucopolysaccharidosis III (MPS III) is a rare inherited metabolic disease primarily affecting the central nervous system, leading to developmental and/or speech regression. Early diagnosis of the disease is important to introduce appropriate management measures and to optimize therapeutic outcomes. The diagnosis of MPS III is often significantly delayed due to the rarity of the disease, the more attenu...
Newborn screening for lysosomal disorders in Brazil: A pilot study using custom...
Bender,Fernanda; Burin,Maira G.; Tirelli,Kristiane M.; Medeiros,Fernanda; Bitencourt,Fernanda Hendges de; Civallero,Gabriel; Kubaski,FrancyneAbstract Lysosomal storage disorders (LSDs) are a group of genetic disorders characterized by deficiency of specific lysosomal enzymes. In general, patients are clinically normal at birth, and progressively develop severe signs and symptoms. Diagnosis is usually made several years after onset of manifestations, preventing patients to have the benefits of the early treatment. Newborn screening programs are being...
Recommendations for Assessment and Management of Health-Related Quality of Life...
Giugliani,Roberto; Fainboim,Alejandro; Kim,Chong Ae; Horovitz,Dafne Dain Gandelman; Sakata,Edna Tiemi; Damiano,Ana PaulaAbstract Mucopolysaccharidoses (MPS) constitute a heterogeneous group of rare genetic disorders caused by enzymatic deficiencies that lead to the accumulation of glycosaminoglycans (GAGs). Clinical observations suggest a health-related impairment in quality of life in patients with MPS. Professionals with extensive experience in the care of patients with inborn errors of metabolism, such as MPS, held a meeting ...
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...
Sensitivity, advantages, limitations, and clinical utility of targeted next-gen...
Málaga,Diana Rojas; Brusius-Facchin,Ana Carolina; Siebert,Marina; Pasqualim,Gabriela; Saraiva-Pereira,Maria Luiza; Souza,Carolina F.M deAbstract 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 an...