Publications by authors named "Eduardo Augusto Gonçalves"

6 Publications

  • Page 1 of 1

Acute hepatic porphyrias for the neurologist: current concepts and perspectives.

Arq Neuropsiquiatr 2021 01;79(1):68-80

Universidade Federal de São Paulo, Department of Neurology and Neurosurgery, Division of Neuromuscular Diseases, São Paulo SP, Brazil.

Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis.

Objective: We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias.

Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias.

Results: Acute neurovisceral attacks are the most common and life-threatening presentation of this group and are often considered the main clinical manifestation by clinicians during differential diagnosis and the start of proper diagnostic work-up for acute porphyrias. However, atypical presentations with central nervous system involvement, neuropsychiatric disturbances, and some subtypes with photosensitivity usually make the definite diagnosis difficult and late. Early therapeutic interventions are essential during emergency treatment and intercritical periods to avoid recurrent severe presentations. The availability of new disease-modifying therapeutic proposals based on small interfering RNA (siRNA)-based therapies, complementary to the classic intravenous glucose infusion and hemin-based treatments, emphasizes the importance of early diagnosis and genetic counseling of patients.

Conclusions: This review article highlights the main biochemical, pathophysiological, clinical, and therapeutic aspects of acute hepatic porphyrias in clinical practice.
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http://dx.doi.org/10.1590/0004-282X20200096DOI Listing
January 2021

Acute hepatic porphyrias for the neurologist: current concepts and perspectives.

Arq Neuropsiquiatr 2021 Jan 6. Epub 2021 Jan 6.

Universidade Federal de São Paulo, Department of Neurology and Neurosurgery, Division of Neuromuscular Diseases, São Paulo SP, Brazil.

Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis.

Objective: We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias.

Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias.

Results: Acute neurovisceral attacks are the most common and life-threatening presentation of this group and are often considered the main clinical manifestation by clinicians during differential diagnosis and the start of proper diagnostic work-up for acute porphyrias. However, atypical presentations with central nervous system involvement, neuropsychiatric disturbances, and some subtypes with photosensitivity usually make the definite diagnosis difficult and late. Early therapeutic interventions are essential during emergency treatment and intercritical periods to avoid recurrent severe presentations. The availability of new disease-modifying therapeutic proposals based on small interfering RNA (siRNA)-based therapies, complementary to the classic intravenous glucose infusion and hemin-based treatments, emphasizes the importance of early diagnosis and genetic counseling of patients.

Conclusions: This review article highlights the main biochemical, pathophysiological, clinical, and therapeutic aspects of acute hepatic porphyrias in clinical practice.
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http://dx.doi.org/10.1590/0004-282X20200096DOI Listing
January 2021

Intragenic variants in the gene determine the clinical phenotype in 5q spinal muscular atrophy.

Neurol Genet 2020 Oct 1;6(5):e505. Epub 2020 Sep 1.

Department of Neurology (R.H.M., C.M., G.J.P., A.M.S.S., D.J.F.S., F.K., U.C.R., E.Z.); Department of Pathology (L.K., A.T.D., E.A.Z.), Faculdade de Medicina da Universidade de São Paulo (FMUSP); Departamento de Pediatria e Neuropediatria (J.G.-G., A.C.M.L.M., G.P.C.S.), Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte; Departamento de Neurologia - UNIFESP (A.S.B.O., P.V.S.S., W.B.V.R.P., E.A.G., I.B.F.), São Paulo; Departamento de Pediatria, Seção de Neurologia Infantil - UFRJ (F.N., A.P.Q.C.A.), Rio de Janeiro; Departamento de Neurologia (W.M., P.J.T.), FMUSP-RP, Ribeirao Preto; Mendelics Análise Genômica (M.D.O.R., J.P.K., F.P.M., F.K.), São Paulo; Serviço de Neurologia (J.A.M.S.), Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, UFRGS, Porto Alegre; Unidade de Neurologia Infantil (M.M.B.), Hospital de Clinicas de Porto Alegre; Serviço de Genética Médica (J.A.M.S., M.L.S.-P., A.C.B.-F.), Hospital de Clinicas de Porto Alegre; UFRGS, Porto Alegre; Departamento de Bioquímica - UFRGS (M.L.S.-P.), Porto Alegre; Hospital Maria Lucinda (V.L., R.N.F.), Recife; Hospital Infantil Joao Paulo II (A.V.S.B.), Fundação Hospitalar de Minas Gerais, Belo Horizonte; Escola Bahiana de Medicina e Saúde Pública (M.C.M.-C.), Salvador; Hospital Infantil Albert Sabin (A.L.S.P.), Universidade Estadual do Ceará, Fortaleza; and Departamento de Neurologia (L.S.S., M.C.F.), Unicamp, Campinas, Brazil.

Objective: The aim of the study was to report the proportion of homozygous and compound heterozygous variants in the survival motor neuron 1 () gene in a large population of patients with spinal muscular atrophy (SMA) and to correlate the severity of the disease with the presence of specific intragenic variants in and with the copy number.

Methods: Four hundred fifty Brazilian patients with SMA were included in a retrospective study, and clinical data were analyzed compared with genetic data; the copy number was obtained by multiplex ligation-dependent probe amplification and pathogenic variants in by next-generation sequencing.

Results: Four hundred two patients (89.3%) presented homozygous exon 7- deletion, and 48 (10.7%) were compound heterozygous for the common deletion in one allele and a point mutation in the other allele. Recurrent variants in exons 3 and 6 (c.460C>T, c.770_780dup and c.734_735insC) accounted for almost 80% of compound heterozygous patients. Another recurrent pathogenic variant was c.5C>G at exon 1. Patients with c.770_780dup and c.734_735insC had a clinical phenotype correlated with copy number, whereas the variants c.460C>T and c.5C>G determined a milder phenotype independently of the copies.

Conclusions: Patients with specific pathogenic variants (c.460C>T and c.5C>G) presented a milder phenotype, and the copy number did not correlate with disease severity in this group.
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http://dx.doi.org/10.1212/NXG.0000000000000505DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7524579PMC
October 2020

Teaching NeuroImages: Slowly progressive hypertrophic brachial plexopathy due to mutation.

Neurology 2020 07 10;95(1):e109-e110. Epub 2020 Jun 10.

From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), Brazil.

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http://dx.doi.org/10.1212/WNL.0000000000009739DOI Listing
July 2020

Teaching NeuroImages: Hopkins syndrome: A rare differential diagnosis of neurogenic monomelic amyotrophy.

Neurology 2020 03 10;94(9):e996-e997. Epub 2020 Feb 10.

From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.

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http://dx.doi.org/10.1212/WNL.0000000000009038DOI Listing
March 2020

Inclusion of individuals with special needs in regular education: a literature review.

J Soc Bras Fonoaudiol 2012 ;24(1):96-103

Law School, Fundação Educacional do Município de Assis, Assis (SP), Brazil.

Purpose: To critically analyze the inclusion of individuals with special needs in regular education in Brazil, considering social and legal aspects, through literature review.

Research Strategy: The literature search was conducted in open access databases: LILACS, SciELO, Portal Cochrane and IUSDATA, the latter belonging to the Library of the Law School of the University of São Paulo, considering all articles published until December 2010. The search strategy used the following keywords: inclusive education; special education; inclusive proposal; individuals with special needs.

Selection Criteria: In the search, only studies in which the summary or the body of the article were related to the purpose of the study were evaluated and selected.

Data Analysis: The potentially relevant articles for review were presented in a protocol form containing the eligibility criteria of the study, methods used, characteristics of the analyzed group or manuscripts, type of intervention used in the study, and results obtained. Articles classified as expert opinions, despite their low level of scientific evidence, were considered in this work, since they are often found in the literature on the issue.

Results: A total of 1,399 articles was found and 120 potentially relevant articles were selected after reading their abstracts. From these, 67 articles were cited in more than one database, which resulted in 53 articles to be fully read. Fifteen of these articles were excluded after reading because they did not meet the inclusion criteria. Thus, 38 studies were included and analyzed.

Conclusion: Following a critical analysis of the literature in the field, it was concluded that, so far, in general, the school receives individuals with special needs; however, there is a long way to go to actually include these individuals, although Brazil has the scope of inclusion. Therefore, it is necessary to establish public policies and guidelines aimed at effective inclusion.
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http://dx.doi.org/10.1590/s2179-64912012000100017DOI Listing
October 2012