14 documents found, page 1 of 2
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...
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...
State biomarkers for Machado Joseph disease: Validation, feasibility and respon...
Furtado,Gabriel Vasata; Oliveira,Camila Maria de; Bolzan,Gabriela; Saute,Jonas Alex Morales; Saraiva-Pereira,Maria Luiza; Jardim,Laura BannachAbstract Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil. Due to an expanded polyglutamine at ataxin-3, SCA3/MJD presents a relentless course with no current disease modifying treatment. Clinical scales used to measure SCA3/MJD progression present moderate effect sizes, a major drawback for their use as main outcomes in clinical trial...
Minimal prevalence of Huntington’s disease in the South of Brazil and instabili...
Castilhos,Raphael Machado de; Santos,José Augusto dos; Augustin,Marina Coutinho; Pedroso,José Luiz; Barsottini,Orlando; Saba,RobertaAbstract Huntington’s disease (HD) is due to dominant expansions of the CAG repeat of the HTT gene. Meiotic instability of the (CAG)n might impact the disorder frequency. We report on HD minimal prevalence in Rio Grande do Sul (RS) state, Brazil, and on intergenerational instability of the (CAG)n in HD families. Symptomatic and at-risk subjects from 179 HD families were ascertained between 2013 and 2016. Clinic...
Cross-cultural adaptation and validation of the International Cooperative Ataxi...
Maggi,Fernanda Aparecida; Braga-Neto,Pedro; Chien,Hsin Fen; Gama,Maria Thereza Drumond; Rezende Filho,Flávio Moura; Saraiva-Pereira,Maria LuizaABSTRACT Introduction: The clinical assessment of patients with ataxias requires reliable scales. We aimed to translate, adapt and validate the International Cooperative Ataxia Rating Scale (ICARS) into Brazilian Portuguese. Methods: The steps of this study were forward translation, translation synthesis, backward translation, expert committee meeting, preliminary pilot testing and final assessment. Thirty pati...
Neurological outcomes after hematopoietic stem cell transplantation for cerebra...
Saute,Jonas Alex Morales; Souza,Carolina Fischinger Moura de; Poswar,Fabiano de Oliveira; Donis,Karina Carvalho; Campos,Lillian GonçalvesABSTRACT Hematopoietic stem cell transplantation (HSCT) is the only available treatment for the neurological involvement of disorders such as late-onset metachromatic leukodystrophy (MLD), mucopolysaccharidosis type I-Hurler (MPS-IH), and X-linked cerebral adrenoleukodystrophy (CALD). Objective To describe survival and neurological outcomes after HSCT for these disorders. Methods Seven CALD, 2 MLD and 2 MPS-IH ...
Niemann-Pick disease type C: a case series of Brazilian patients
Lorenzoni,Paulo José; Cardoso,Elaine; Crippa,Ana C. S.; Lourenço,Charles Marques; Souza,Fernanda Timm Seabra; Giugliani,RobertoThe aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C). Method Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented. Result The sample consisted of 5 patients aged 8 to 26 years. Vertical supranuclear gaze palsy, cerebellar ataxia, dementia, dystonia and dysarthria were present in all cases. Filipin s...
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...
A patient presenting a 22q13 deletion associated with an apparently balanced tr...
Artigalás,Osvaldo; Paskulin,Giorgio; Riegel,Mariluce; Burin,Maira; Saraiva-Pereira,Maria Luiza; Maluf,Sharbel; Kiss,Andrea; Schwartz,Ida Vanessa D.A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan ARSA gene and chromosome analysis were performed, showing the presence of a pseudodeficiency ARSA allele and a de novo apparently balanced t(16;22)(p11.2;q13) translocation. A del...
Molecular Analysis of Spinal Muscular Atrophy: a genotyping protocol based on T...
Godinho,Fernanda Marques de Souza; Bock,Hugo; Gheno,Tailise Conte; Saraiva-Pereira,Maria LuizaSpinal muscular atrophy (SMA) is an autosomal recessive inherited disorder caused by alterations in the survival motor neuron I (SMN1) gene. SMA patients are classified as type I-IV based on severity of symptoms and age of onset. About 95% of SMA cases are caused by the homozygous absence of SMN1 due to gene deletion or conversion into SMN2. PCR-based methods have been widely used in genetic testing for SMA. In...