10 documents found, page 1 of 1
Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable an...
Mariath,Luiza Monteavaro; Kiszewski,Ana Elisa; Frantz,Jeanine Aparecida; Siebert,Marina; Matte,Ursula; Schuler-Faccini,LavíniaAbstract Background: Epidermolysis bullosa is characterized by cutaneous fragility and blistering. Historically, diagnosis is achieved by immunofluorescence mapping or transmission electron microscopy, both involving biopsy procedures. Genetic analysis, especially through next-generation sequencing, is an important tool for the diagnosis of this disease. In Brazil, access to diagnostic methods is limited, and c...
Metabarcoding reveals that a non-nutritive sweetener and sucrose yield similar ...
Falcon,Tiago; Foletto,Kelly Carraro; Siebert,Marina; Pinto,Denise Entrudo; Andrades,Michael; Bertoluci,Marcello CasacciaAbstract The effects of non-nutritive sweeteners (NNS) on the gut microbiota are an area of increasing research interest due to their potential influence on weight gain, insulin resistance, and inflammation. Studies have shown that mice and rats fed saccharin develop weight gain and metabolic alterations, possibly related to changes in gut microbiota. Here, we hypothesized that chronic exposure to a commercial ...
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...
Determining the pathogenicity of CFTR missense variants: Multiple comparisons o...
Michels,Marcus; Matte,Ursula; Fraga,Lucas Rosa; Mancuso,Aline Castello Branco; Ligabue-Braun,Rodrigo; Berneira,Elias Figueroa Rodrigues; Siebert,MarinaAbstract Pathogenic variants in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) are responsible for cystic fibrosis (CF), the commonest monogenic autosomal recessive disease, and CFTR-related disorders in infants and youth. Diagnosis of such diseases relies on clinical, functional, and molecular studies. To date, over 2,000 variants have been described on CFTR (~40% missense). Since few of t...
Prevalence of oropharyngeal dysphagia in hereditary spastic paraplegias
Jacinto-Scudeiro,Laís Alves; Machado,Gustavo Dariva; Ayres,Annelise; Burguêz,Daniela; Polese-Bonatto,Marcia; González-Salazar,Carelis; Siebert,MarinaABSTRACT Hereditary spastic paraplegias (HSP) are a group of genetic diseases characterized by lower limb spasticity with or without additional neurological features. Swallowing dysfunction is poorly studied in HSP and its presence can lead to significant respiratory and nutritional complications. Objectives: The aim of this study was to evaluate the frequency and clinical characteristics of dysphagia in differ...
Hampered Vitamin B12 Metabolism in Gaucher Disease?
Hannibal,Luciana; Siebert,Marina; Basgalupp,Suelen; Vario,Filippo; Spiekerkoetter,Ute; J. Blom,HenkAbstract Untreated vitamin B12 deficiency manifests clinically with hematological abnormalities and combined degeneration of the spinal cord and polyneuropathy and biochemically with elevated homocysteine (Hcy) and methylmalonic acid (MMA). Vitamin B12 metabolism involves various cellular compartments including the lysosome, and a disruption in the lysosomal and endocytic pathways induces functional deficiency ...
Draft genome sequence of a GES-5-producing Serratia marcescens isolated in sout...
Nodari,Carolina Silva; Siebert,Marina; Matte,Ursula da Silveira; Barth,Afonso LuísAbstract Serratia marcescens is a Gram-negative rod intrinsically resistant to polymyxins and usually associated with wound, respiratory and urinary tract infections. The whole genome of the first GES-5-producing S. marcescens isolated from a Brazilian patient was sequenced using Ion Torrent PGM System. Besides blaGES-5, we were able to identify genes encoding for other β-lactamases, for aminoglycoside modifyin...
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...
Diagnostic contribution of molecular analysis of the cystic fibrosis transmembr...
Dal'Maso,Vinícius Buaes; Mallmann,Lucas; Siebert,Marina; Simon,Laura; Saraiva-Pereira,Maria Luiza; Dalcin,Paulo de Tarso RothOBJECTIVE: To evaluate the diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients suspected of having mild or atypical cystic fibrosis (CF). METHODS: This was a cross-sectional study involving adolescents and adults aged ≥ 14 years. Volunteers underwent clinical, laboratory, and radiological evaluation, as well as spirometry, sputum micro...