5 documents found, page 1 of 1
Leigh Syndrome Due to mtDNA Pathogenic Variants
Pereira,Cristina; Souza,Carolina Fischinger de; Vedolin,Leonardo; Vairo,Filippo; Lorea,Cláudia; Sobreira,Cláudia; Nogueira,Célia; Vilarinho,LauraAbstract Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. Hallmarks of the disease are symmetrical lesions in the basal ganglia or brain stem on MRI, and a clinical course with rapid deterioration of cognitive and motor functions. It is genetically heterogeneous, causative mutations have been disclosed in mitochondrial DNA and nuclear genes involved...
Lysosomal diseases: Overview on current diagnosis and treatment
Poswar,Fabiano de Oliveira; Vairo,Filippo; Burin,Maira; Michelin-Tirelli,Kristiane; Brusius-Facchin,Ana Carolina; Kubaski,FrancyneAbstract 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 th...
The prognostic value of the serum ferritin in a southern Brazilian cohort of pa...
Koppe,Tiago; Doneda,Divair; Siebert,Marina; Paskulin,Livia; Camargo,Matheus; Tirelli,Kristiane Michelin; Vairo,Filippo; Daudt,LianeAbstract The clinical utility of serum ferritin as a biomarker of disease severity and prognosis in Gaucher disease (GD) is still debated. Here, we aimed to evaluate ferritin and its relation to clinicolaboratory parameters of GD patients seen at the Reference Center for Gaucher Disease of Rio Grande do Sul, Brazil, so as to gather evidence on the utility of ferritin as a biomarker of this condition. A retrospe...
The challenges of organizing an international course in Latin America
Vairo,Filippo; López,Mónica Luján; Cruz,Carolina Uribe; Corrêa,Priscila Gomes; Baldo,GuilhermeThe Latin American School of Human and Medical Genetics (ELAG) is the main course of its kind in the genetics field in Latin America. Here we describe the main challenges regarding the organization of such event, including how we obtain funding and how we proceed with student selection. Thus, we aim to share our experience with other groups that intend to follow this format to create similar events in other are...
Enzyme replacement therapy for Fabry disease: a systematic review and meta-anal...
Alegra,Taciane; Vairo,Filippo; de Souza,Monica V.; Krug,Bárbara C.; Schwartz,Ida V.D.The specific treatment available for Fabry disease (FD) is enzyme replacement therapy (ERT) with agalsidase alfa or beta. A systematic review and meta-analysis was conducted to assess the efficacy and safety of ERT for FD. Only double-blind, randomized clinical trials (RCTs) comparing agalsidase alfa or beta and placebo were included. ERT with either agalsidase alfa or beta was considered similar for the purpos...