Têmis Maria Félix

Hospital de Clínicas de Porto Alegre

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Liliane Todeschini de Souza

Hospital de Clínicas de Porto Alegre

Evelise Brizola

Istituto Ortopedico Rizzoli

Marina Bauer Zambrano

Hospital de Clínicas de Porto Alegre

Erlane Marques Ribeiro

Hospital Infantil Albert Sabin

Roberto Giugliani

National Institute on Population Medical Genetics

Jeffrey C. Murray

University of Iowa

Ana Paula Vanz

Faculdades Integradas de Taquara

Domingos Alves

Universidade de São Paulo

Isabella Lopes Monlleó

Universidade Federal de Alagoas

Vera Lúcia Gil‐da‐Silva‐Lopes

Genomic (Brazil)

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Universidade Federal do Rio Grande do Sul

147

Hospital de Clínicas de Porto Alegre

134

Universidade de São Paulo

109

Universidade Estadual de Campinas (UNICAMP)

National Institute on Population Medical Genetics

Universidade Federal do Rio Grande

Fundação Oswaldo Cruz

Universidade Federal de São Paulo

Baylor College of Medicine

Johns Hopkins University

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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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Citations (26)

Supervised Machine Learning Techniques Applied to Medical Records Toward the Diagnosis of Rare Autoimmune Diseases

Lecture notes in computer science (2023)

Pedro Emilio Andrade Martins Márcio Eloi Colombo Filho Ana Clara de Andrade Mioto Filipe Andrade Bernardi Vinícius Lima

Autoimmune Hepatitis

Medical record

10.1007/978-3-031-36024-4_13

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Associação do polimorfismo RS987525 da região 8Q24 com fissuras de lábio e/ou palato não sindrômicos na população brasileira

Liliane Todeschini de Souza Thayne Woycinck Kowalski Isabella Lopes Monlleó E.M. Ribeiro João Paulo Dalazen de Souza

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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

JAMA Neurology (2022)

Dianalee McKnight Ana Morales Kathryn E. Hatchell Sara L. Bristow Joshua L. Bonkowsky

It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes. To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes. This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a pathogenic/likely pathogenic (P/LP) variant were included in the study. Case report forms were completed by all health care professionals. Genetic test results. Clinical management changes after a genetic diagnosis (ie, 1 P/LP variant in autosomal dominant and X-linked diseases; 2 P/LP variants in autosomal recessive diseases) and subsequent patient outcomes as reported by health care professionals on case report forms. Among 418 patients, median (IQR) age at the time of testing was 4 (1-10) years, with an age range of 0 to 52 years, and 53.8% (n = 225) were female individuals. The mean (SD) time from a genetic test order to case report form completion was 595 (368) days (range, 27-1673 days). A genetic diagnosis was associated with changes in clinical management for 208 patients (49.8%) and usually (81.7% of the time) within 3 months of receiving the result. The most common clinical management changes were the addition of a new medication (78 [21.7%]), the initiation of medication (51 [14.2%]), the referral of a patient to a specialist (48 [13.4%]), vigilance for subclinical or extraneurological disease features (46 [12.8%]), and the cessation of a medication (42 [11.7%]). Among 167 patients with follow-up clinical information available (mean [SD] time, 584 [365] days), 125 (74.9%) reported positive outcomes, 108 (64.7%) reported reduction or elimination of seizures, 37 (22.2%) had decreases in the severity of other clinical signs, and 11 (6.6%) had reduced medication adverse effects. A few patients reported worsening of outcomes, including a decline in their condition (20 [12.0%]), increased seizure frequency (6 [3.6%]), and adverse medication effects (3 [1.8%]). No clinical management changes were reported for 178 patients (42.6%). Results of this cross-sectional study suggest that genetic testing of individuals with epilepsy may be materially associated with clinical decision-making and improved patient outcomes.

10.1001/jamaneurol.2022.3651

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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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Osteogênese imperfeita tipo v : identificação de casos brasileiros

Evelise Brizola Eduardo Preusser de Mattos Liliane Todeschini de Souza Jéssica Tonin Ferrari Patrícia de Sá Freire

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Heterogeneidade clínica em Osteogênese Imperfeita : comparação entre a classificação de Sillence e o escore de Aglan

Evelise Brizola Bruna de Souza Pinheiro Karina Carvalho Donis Marina Bauer Zambrano Têmis Maria Félix

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Centro de referência em Osteogênese Imperfeita do Hospital de Clínicas de Porto Alegre (CROI-HCPA)

Evelise Brizola Marina Bauer Zambrano Karina Carvalho Donis Bruna de Souza Pinheiro Têmis Maria Félix

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Investigação de mutações associadas à perda auditiva não sindrômica nos genes GJB2 e GJB6

Caroline Rodrigues da Silveira Jéssica Tonin Ferrari Liliane Todeschini de Souza Marina Faistauer Letícia Petersen Schmidt Rosito

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Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil

Jornal de Pediatria (2024)

Isabela Mayá Wayhs Silva Milena Atique-Tacla Erlane Marques Ribeiro Elaine Lustosa‐Mendes Agnes Cristina Fett‐Conte

The current study delves into the accessibility of genetic evaluations for individuals with orofacial clefts (OC), comparing data between genetics and treatment centers across Brazil.

Medical genetics

10.1016/j.jped.2024.07.002

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Citations (1)