Ida Vanessa Döederlein Schwartz

Universidade Federal do Rio Grande do Sul

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Roberto Giugliani

National Institute on Population Medical Genetics

143

Carolina Fischinger Moura de Souza

Hospital de Clínicas de Porto Alegre

109

Filippo Pinto e Vairo

Mayo Clinic

Fernanda Sperb‐Ludwig

Universidade Federal do Rio Grande do Sul

Tatiéle Nalin

Universidade Federal do Rio Grande do Sul

Cristina Brinckmann Oliveira Netto

Hospital de Clínicas de Porto Alegre

Sandra Leistner‐Segal

Hospital de Clínicas de Porto Alegre

Marina Siebert

University of Giessen

Taciane Alegra

Universidade Federal do Rio Grande do Sul

Úd

Úrsula da Silveira Matte

Universidade Federal do Rio Grande do Sul

Cooperative Institutions

Universidade Federal do Rio Grande do Sul

422

Hospital de Clínicas de Porto Alegre

400

Universidade de São Paulo

153

National Institute on Population Medical Genetics

Inserm

Boston Children's Hospital

Universidade Federal do Rio Grande

National Institutes of Health

University Medical Center Groningen

Universidade Federal de São Paulo

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Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

PLoS ONE (2017)

Taciane Borsatto Fernanda Sperb‐Ludwig Samyra Espindola Lima Maria Raquel Santos Carvalho Pablo A. S. Fonseca

Introduction The association between the BTD genotype and biochemical phenotype [profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always consistent. This study aimed to investigate the genotype-biochemical phenotype association in patients with low biotinidase activity. Methods All exons, the 5'UTR and the promoter of the BTD gene were sequenced in 72 Brazilian individuals who exhibited low biotinidase activity. For each patient, the expected biochemical phenotype based on the known genotype was compared with the observed biochemical phenotype. Additional non-genetic factors that could affect the biotinidase activity were also analysed. Results Most individuals were identified by neonatal screening (n = 66/72). When consecutive results for the same patient were compared, age, prematurity and neonatal jaundice appeared to affect the level of biotinidase activity. The biochemical phenotype at the time of the second blood collection changed in 11/22 patients compared to results from the first sample. Three novel variants were found: c.1337T>C (p.L446P), c.1466A>G (p.N489S) and c.962G>A (p.W321*). Some patients with the same genotype presented different biochemical phenotypes. The expected and observed biochemical phenotypes agreed in 68.5% of cases (concordant patients). The non-coding variants c.-183G>A, c.-315A>G and c.-514C>T were present in heterozygosis in 5/17 discordant patients. In addition, c.-183G>A and c.-514C>T were also present in 10/37 concordant patients. Conclusions The variants found in the promoter region do not appear to have a strong impact on biotinidase activity. Since there is a disparity between the BTD genotype and biochemical phenotype, and biotinidase activity may be affected by both genetic and non-genetic factors, we suggest that the diagnosis of BD should be based on more than one measurement of plasma biotinidase activity. DNA analysis can be of additional relevance to differentiate between partial BD and heterozygosity.

Biotinidase deficiency

Genotype-phenotype distinction

10.1371/journal.pone.0177503

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Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten‐year experience in a Brazilian center

Jornal de Pediatria (Versão em Português) (2020)

Ana Paula Pereira Scholz de Magalhães Maira Graeff Burin Carolina Fischinger Moura de Souza Fernanda Bender Fernanda Medeiros Sebastião

To characterize cases of suspected congenital disorders of glycosylation (CDG) investigated in a laboratory in southern Brazil using the transferrin isoelectric focusing TfIEF test from 2008 to 2017. Observational, cross‐sectional, retrospective study. The laboratory records of 1,546 individuals (median age = 36 months, 25‐75 IQR = 10‐108; males = 810) submitted to the TfIEF test during the period were reviewed. Fifty‐one individuals (3%) had an altered TfIEF pattern (5 ± 2.8 cases/year; median age = 24 months, 25‐75 IQR = 11‐57 months; males = 27, 53%). For 14 of them, data on diagnosis conclusion were available (classic galactosemia = 4; hereditary fructose intolerance = 4; peroxisomal diseases = 2; PMM2‐CDG = 2; MPDU1‐CDG = 1; SLC35A2‐CDG = 1).Comparing the cases with the normal and altered TfIEF patterns, there was a higher prevalence of altered cases in the age group from 11 months to 3 years. There was an increase in the likelihood of change in TfIEF, especially in the presence of inverted nipples or liver disease. The data suggest that the investigation of a case with suspected CDG is a complex problem, being aggravated by the existence of other IEMs (inborn errors of metabolism) associated with altered TfIEF pattern and lack of access to confirmatory tests. The presence of inverted nipples and liver disease, especially in individuals aged 11 months to 3 years, should suggest the need for TfIEF investigation. Caracterizar os casos com suspeita de CDG investigados em laboratório do sul do Brasil pelo exame de IEFTF de 2008 a 2017. Estudo observacional, transversal, retrospectivo. Foram revisadas as fichas laboratoriais de 1.546 indivíduos (mediana de idade = 36 meses, IQ 25‐75 = 10‐108; sexo masculino = 810) que fizeram o exame de IEFTF no período. Cinquenta e um indivíduos (3%) apresentaram padrão alterado na IEFTF (5 ± 2,8 casos/ano; mediana de idade = 24 meses, IQ 25‐75 = 11‐57 meses; sexo masculino = 27, 53%). Para 14 deles, estavam disponíveis dados sobre a conclusão do diagnóstico (galactosemia clássica = 4; intolerância hereditária à frutose = 4; doenças peroxissomais = 2; PMM2‐CDG = 2; MPDU1‐CDG = 1; SLC35A2‐CDG = 1). Comparando os casos com padrão normal e alterado na IEFTF, houve maior prevalência de casos alterados na faixa etária de 11 meses a 3 anos. Verificou‐se um aumento na probabilidade de alteração na IEFTF principalmente na presença de mamilos invertidos ou de hepatopatia. Os nossos dados sugerem que a investigação de um caso com suspeita de CDG é complexa, é agravada pela existência de outros EIM associados a padrão alterado na IEFTF e pela falta de acesso a exames confirmatórios. A presença principalmente de mamilos invertidos e de hepatopatia em indivíduos na faixa etária de 11 meses a 3 anos deve sugerir a necessidade de investigação por IEFTF.

Carbohydrate deficient transferrin

Galactosemia

Liver disease

10.1016/j.jpedp.2019.11.001

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Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

Genetics and Molecular Biology (2019)

Diana Rojas Málaga Ana Carolina Brusius‐Facchin Marina Siebert Gabriela Pasqualim Maria Luiza Saraiva Pereira

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 and a better outcome for current therapies, since enzyme replacement therapies have been approved in Brazil for Gaucher, Fabry, and Pompe diseases, and are under development for Niemann-Pick Type B. However, application of next-generation sequencing (NGS) technology in the clinical diagnostic setting requires a previous validation phase. Here, we assessed the application of this technology as a fast, accurate, and cost-effective method to determine genetic diagnosis in selected LSDs. We have designed two panels for testing simultaneously 11 genes known to harbor casual mutations of LSDs. A cohort of 58 patients was used to validate those two panels, and the clinical utility of these gene panels was tested in four novel cases. We report the assessment of a NGS approach as a new tool in the diagnosis of LSDs in our service.

Genetic diagnosis

Penetrance

10.1590/1678-4685-gmb-2018-0092

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Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength

Jornal de Pediatria (2008)

Antonio Cardoso-Santos Ana Cecília Azevedo Simone Chaves Fagondes Maira Graeff Burin Roberto Giugliani

10.2223/jped.1743

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Identification of metabolic pathways and key genes associated with Atypical Parkinsonism using a systems biology approach

Research Square (Research Square) (2023)

Amanda Pasqualotto Vinicius Henrique da Silva Felipe Mateus Pellenz Artur Francisco Schumacher Schuh Ida Vanessa Döederlein Schwartz

Abstract Atypical parkinsonism (AP) is a group of complex neurodegenerative disorders with marked clinical and pathophysiological heterogeneity. The use of systems biology tools may contribute to the characterization of hub-bottleneck genes, and the identification of its metabolic pathways to broaden the understanding of the bases of these disorders. A systematic search was performed on the DisGeNET database, which integrates data from expert curated repositories, GWAS catalogues, animal models and the scientific literature. The tools STRING 11.0 and Cytoscape 3.8.2 were used for analysis of protein-protein interaction (PPI) network. The PPI network topography analyses were performed using the CytoHubba 0.1 plugin for Cytoscape. The hub and bottleneck genes were inserted into 4 different sets on the InteractiveVenn. Additional functional enrichment analyses were performed to identify Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways and gene ontology for a described set of genes. The systematic search in the DisGeNET database identified 485 genes involved with Atypical Parkinsonism. Superimposing these genes, we detected a total of 31 hub-bottleneck genes. Moreover, our functional enrichment analyses demonstrated the involvement of these hub-bottleneck genes in 3 major KEGG pathways. We identified 31 highly interconnected hub-bottleneck genes through a systems biology approach, which may play a key role in the pathogenesis of atypical parkinsonism. The functional enrichment analyses showed that these genes are involved in several biological processes and pathways, such as the glial cell development, glial cell activation and cognition, pathways were related to Alzheimer disease and Parkinson disease. As a hypothesis, we highlight as possible key genes for AP the MAPT (microtubule associated protein tau), APOE (apolipoprotein E), SNCA (synuclein alpha) and APP (amyloid beta precursor protein) genes.

KEGG

Identification

Gene regulatory network

10.21203/rs.3.rs-3015470/v1

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Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)

Orphanet Journal of Rare Diseases (2022)

Têmis Maria Félix Bibiana Mello de Oliveira Milena Artifon Isabelle Carvalho Filipe Andrade Bernardi

Abstract The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown. Despite great advances in diagnosis, especially due to new technologies and the recent structuring of clinical assessment of RD in Brazil, epidemiological data are lacking and when available, restricted to specific disorders. This position paper summarises the performance of a nationally representative survey on epidemiology, clinical status, and diagnostic and therapeutic resources employed for individuals with genetic and non-genetic RD in Brazil. The Brazilian Rare Disease Network (BRDN) is under development, comprising 40 institutions, including 18 UH, 17 Rare Diseases Reference Services and five Newborn Screening Reference Services. A retrospective study will be initially conducted, followed by a prospective study. The data collection instrument will use a standard protocol with sociodemographic data and clinical and diagnostic aspects according to international ontology. This great collaborative network is the first initiative of a large epidemiological data collection of RD in Latin America, and the results will increase the knowledge of RD in Brazil and help health managers to improve national public policy on RD in Brazil.

Rare disease

10.1186/s13023-022-02254-4

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Espectro atual de mutações em MPS II de pacientes brasileiros

Camila Zimmer da Silva Ana Carolina Brusius Sandra Leistner‐Segal Ida Vanessa Döederlein Schwartz Roberto Giugliani

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Efficacy of speech therapy in post-intubation patients with oropharyngeal dysphagia: a randomized controlled trial

CoDAS (2021)

Giovana Sasso Turra Ida Vanessa Döederlein Schwartz Sheila Tamanini de Almeida Chenia Caldeira Martinez Maristela Bridi

ABSTRACT Purpose to verify the efficacy of speech therapy in the early return of oral intake in patients with post-orotracheal intubation dysphagia. Methods It was a double-blinded randomized controlled trial for two years with patients of intensive care units of a hospital. Study inclusion criteria were orotracheal intubation>48hours, age≥18 years old, clinical stability, and dysphagia. Exclusion criteria were tracheotomy, score 4 to 7 in the Functional Oral Intake Scale (FOIS), neurological disorders. Patients were randomized into speech treatment or control group (ten days of follow-up). The treated group (TG) received guidance, therapeutic techniques, airway protection and maneuvers, orofacial myofunctional and vocal exercises, diet introduction; the control group (CG) received SHAM treatment. Primary outcomes were oral intake progression, dysphagia severity, and tube feeding permanence. Results In the initial period of study, 240 patients were assessed and 40 (16.6%) had dysphagia. Of this, 32 patients met the inclusion criteria, and 17 (53%) received speech therapy. Tube feeding permanence was shorter in TG (median of 3 days) compared to CG (median of 10 days) (p=0.004). The size effect of the intervention on tube feeding permanence was statistically significant between groups (Cohen's d=1.21). TG showed progress on FOIS scores compared to CG (p=0.005). TG also had a progression in severity levels of Dysphagia protocol (from moderate to mild dysphagia) (p<0.001). Conclusion Speech therapy favors an early progression of oral intake in post-intubation patients with dysphagia. Clinical Trial Registration: RBR-9829jk.

10.1590/2317-1782/20202019246

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Mucopolissacaridose tipo VI : espectro de mutações nos pacientes da rede MPS Brasil

Ágata Mantese de Carvalho Fernanda Bender Fabiana Maia Moura Costa Motta Ida Vanessa Döederlein Schwartz Roberto Giugliani

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MUSAS - MULHERES NA UNIVERSIDADE E NA SAÚDE 2016

Suzi Alves Camey Cristina Rolim Neumann Olga García Falceto Ida Vanessa Döederlein Schwartz Janaina de Oliveira Terra

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