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Resumo Atrofia muscular espinhal ligada ao cromossomo 5 (AME-5q) é uma doença genética de herança autossômica recessiva causada por mutações no gene SMN1. A AME-5q cursa com degeneração progressiva dos motoneurônios medulares e bulbares, acarretando grave comprometimento motor e respiratório com redução da sobrevida, especialmente nas suas formas clínicas mais graves. Nos últimos anos, terapias modificadoras da doença altamente eficazes, ou que atuam regulando o splicing do exon 7 do gene SMN2 ou adicionando uma cópia do gene SMN1 via terapia gênica, têm surgido, proporcionando uma mudança drástica na história natural da doença. Dessa forma, o desenvolvimento de guias terapêuticos e de consensos de especialistas torna-se importante no sentido de direcionar o uso dessas terapias na prática clínica. Este consenso, preparado por especialistas brasileiros, teve como objetivos revisar as principais terapias modificadoras de doença disponíveis, analisar criticamente os resultados dos estudos clínicos dessas terapias e prover recomendações para seu uso na prática clínica para pacientes com AME-5q. Aspectos relativos ao diagnóstico, aconselhamento genético e seguimento dos pacientes em uso das terapias também são abordados nesse consenso. Assim, esse consenso promove valiosas informações a respeito do manejo atual da AME-5q auxiliando decisões terapêuticas na prática clínica e promovendo ganhos adicionais nos desfechos finais. AME5q AMEq AME 5q q (AME-5q SMN bulbares sobrevida graves anos eficazes gênica surgido forma tornase torna se brasileiros disponíveis AME5q. 5q. diagnóstico Assim finais

Abstract Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the SMN1. SMA-5q is characterized by progressive degeneration of the spinal cord and bulbar motor neurons, causing severe motor and respiratory impairment with reduced survival, especially in its more severe clinical forms. In recent years, highly effective disease-modifying therapies have emerged, either acting by regulating the splicing of exon 7 of the SMN2 gene or adding a copy of the SMN1 gene through gene therapy, providing a drastic change in the natural history of the disease. In this way, developing therapeutic guides and expert consensus becomes essential to direct the use of these therapies in clinical practice. This consensus, prepared by Brazilian experts, aimed to review the main available disease-modifying therapies, critically analyze the results of clinical studies, and provide recommendations for their use in clinical practice for patients with SMA-5q. This consensus also addresses aspects related to diagnosis, genetic counseling, and follow-up of patients under drug treatment. Thus, this consensus provides valuable information regarding the current management of SMA-5q, helping therapeutic decisions in clinical practice and promoting additional gains in outcomes. SMA5q SMAq SMA 5q q (SMA-5q SMN neurons survival forms years diseasemodifying modifying emerged therapy way experts studies SMA5q. 5q. diagnosis counseling followup follow up treatment Thus SMA5q, 5q, outcomes

https://doi.org/10.1055/s-0044-1779503

Segmental areas of denervation in post-polio syndrome postpolio post polio
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Braga, Vinícius Lopes

; Moreira, Heloísa Lopes Cohim

; Fraiman, Pedro Henrique Almeida

; Sarmento, Filipe Pereira

; Farias, Igor Braga

; Serrano, Paulo de Lima

; Badia, Bruno de Mattos Lombardi

; Chieia, Marco Antônio Troccoli

; Pinto, Wladimir Bocca Vieira de Rezende

; Souza, Paulo Victor Sgobbi de

; Oliveira, Acary Souza Bulle

Arquivos de Neuro-Psiquiatria

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2024, Volume 82 N. 2 elocation s00441779507

Abstract: En | Text: En | PDF: En

https://doi.org/10.1055/s-0044-1779507

Definitions, phenomenology, diagnosis, and management of the disorders of laughter and crying in amyotrophic lateral sclerosis (ALS): Consensus from ALS and Motor Neuron Disease Scientific Department of the Brazilian Academy of Neurology Definitions phenomenology diagnosis (ALS) (ALS
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Gondim, Francisco de Assis Aquino

; Pinto, Wladimir Bocca Vieira de Rezende

; Chieia, Marco Antônio Troccoli

; Correia, Carolina da Cunha

; Cunha, Francisco Marcos Bezerra

; Dourado Jr, Mário Emílio Teixeira

; França Júnior, Marcondes Cavalcante

; Marques Júnior, Wilson

; Oliveira, Acary Souza Bulle

; Rodrigues, Cleonisio Leite

; Silva, Delson José da

; Dias-Tosta, Elza

Arquivos de Neuro-Psiquiatria

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aug 2023, Volume 81 N. 8 Pages 764 - 775

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

Resumo O espectro de fenômenos neuropsiquiátricos observados na ELA é amplo e não completamente entendido. Desordens do riso e do choro estão entre as manifestações mais comuns. O objetivo deste estudo é relatar os resultados de um Consenso organizado pela Academia Brasileira de Neurologia para avaliar definições, fenomenologia, diagnóstico, e manejo dos distúrbios do riso e do choro em pacientes com ELA. Doze membros da Academia Brasileira de Neurologia – considerados experts na área – foram recrutados para responder 12 questões na temática. Depois da verificação das revisões, um primeiro manuscrito foi preparado. Após, foi realizado um encontro presencial em Fortaleza, Brasil, em 23/09/2022, para discussão do conteúdo. A versão revisada foi posteriormente enviada por e-mail para todos os membros do Departamento Científico de DNM/ELA da Academia Brasileira de Neurologia e a versão final revisada foi submetida para publicação. A prevalência da síndrome pseudobulbar em pacientes com ELA em 15 estudos combinados com 3906 pacientes foi de 27,4% (n = 1070), variando entre 11,4% e 71%. Início bulbar é um fator de risco, mas há limitados estudos avaliando as diferenças em prevalência entre os diferentes subtipos de Doença do Neurônio Motor, incluindo pacientes com e sem Demência Frontotemporal. Antidepressivos e uma combinação de dextrometorfana e quinidina (indisponíveis no Brasil) são opções terapêuticas possíveis. Esse grupo de panelistas reconhece as múltiplas demandas não atendidas na literatura atual e reforça a necessidade de futuros estudos. entendido comuns definições fenomenologia diagnóstico 1 temática revisões preparado Após Fortaleza Brasil 23092022 23 09 2022 23/09/2022 conteúdo email mail DNMELA DNM publicação 390 274 27 4 27,4 n 1070, 1070 , 1070) 114 11 11,4 71 71% risco Motor Frontotemporal indisponíveis possíveis 2309202 2 0 202 23/09/202 39 27, 107 11, 7 230920 20 23/09/20 3 10 23092 23/09/2 2309 23/09/ 230 23/09 23/0 23/

Abstract The spectrum of neuropsychiatric phenomena observed in amyotrophic lateral sclerosis (ALS) is wide and not fully understood. Disorders of laughter and crying stand among the most common manifestations. The aim of this study is to report the results of an educational consensus organized by the Brazilian Academy of Neurology to evaluate the definitions, phenomenology, diagnosis, and management of the disorders of laughter and crying in ALS patients. Twelve members of the Brazilian Academy of Neurology - considered to be experts in the field - were recruited to answer 12 questions about the subject. After exchanging revisions, a first draft was prepared. A face-to-face meeting was held in Fortaleza, Brazil on 9.23.22 to discuss it. The revised version was subsequently emailed to all members of the ALS Scientific Department from the Brazilian Academy of Neurology and the final revised version submitted for publication. The prevalence of pseudobulbar affect/pathological laughter and crying (PBA/PLC) in ALS patients from 15 combined studies and 3906 patients was 27.4% (N = 1070), ranging from 11.4% to 71%. Bulbar onset is a risk factor but there are limited studies evaluating the differences in prevalence among the different motor neuron diseases subtypes, including patients with and without frontotemporal dementia. Antidepressants and a combination of dextromethorphan and quinidine (not available in Brazil) are possible therapeutic options. This group of panelists acknowledge the multiple gaps in the current literature and reinforces the need for further studies. (ALS understood manifestations definitions phenomenology diagnosis 1 subject revisions prepared facetoface face Fortaleza 92322 9 23 22 9.23.2 it publication affectpathological affect pathological PBA/PLC PBAPLC PBA PLC (PBA/PLC 390 274 27 4 27.4 N 1070, 1070 , 1070) 114 11 11.4 71 71% subtypes dementia options 9232 2 9.23. 39 27. 107 11. 7 923 9.23 3 10 92 9.2 9.

https://doi.org/10.1055/s-0043-1771176

Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study sample
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de Mello, Jean Marcel

; Andrade, Pamela Vieira

; Santos, Joilson Moura

; Oliveira, Acary Souza Bulle

; Vainzof, Mariz

; do Amaral, José Luiz Gomes

; Almeida da Silva, Helga Cristina

Brazilian Journal of Anesthesiology

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apr 2023, Volume 73 N. 2 Pages 145 - 152

Abstract: En | Text: En | PDF: En

Abstract Introduction Malignant Hyperthermia (MH) is a pharmacogenetic, hereditary and autosomal dominant syndrome triggered by halogenates/succinylcholine. The In Vitro Contracture Test (IVCT) is the gold standard diagnostic test for MH, and it evaluates abnormal skeletal muscle reactions of susceptible individuals (earlier/greater contracture) when exposed to caffeine/halothane. MH susceptibility episodes and IVCT seem to be related to individual features. Objective To assess variables that correlate with IVCT in Brazilian patients referred for MH investigation due to a history of personal/family MH. Methods We examined IVCTs of 80 patients investigated for MH between 2004‒2019. We recorded clinical data (age, sex, presence of muscle weakness or myopathy with muscle biopsy showing cores, genetic evaluation, IVCT result) and IVCT features (initial and final maximum contraction, caffeine/halothane concentration triggering contracture of 0.2g, contracture at caffeine concentration of 2 and 32 mmoL and at 2% halothane, and contraction after 100 Hz stimulation). Results Mean age of the sample was 35±13.3 years, and most of the subjects were female (n=43 or 54%) and MH susceptible (60%). Of the 20 subjects undergoing genetic investigation, 65% showed variants in RYR1/CACNA1S genes. We found no difference between the positive and negative IVCT groups regarding age, sex, number of probands, presence of muscle weakness or myopathy with muscle biopsy showing cores. Regression analysis revealed that the best predictors of positive IVCT were male sex (+12%), absence of muscle weakness (+20%), and personal MH background (+17%). Conclusions Positive IVCT results have been correlated to male probands, in accordance with early publications. Furthermore, normal muscle strength has been confirmed as a significant predictor of positive IVCT while investigating suspected MH cases. (MH pharmacogenetic halogenatessuccinylcholine halogenates succinylcholine halogenates/succinylcholine (IVCT earlier/greater earliergreater earlier greater caffeinehalothane halothane personalfamily family 8 20042019 2004 2019 2004‒2019 (age cores evaluation result initial 02g g 0 2g 0.2g 3 10 stimulation. stimulation . stimulation) 35133 35 13 35±13. years n=43 n43 n 43 (n=4 54% 54 60%. 60 60% (60%) 65 RYR1CACNA1S RYRCACNAS RYR1 CACNA1S RYR CACNA S genes probands +12%, 12 +12% , (+12%) +20%, +20% (+20%) +17%. 17 +17% (+17%) publications Furthermore cases 2004201 200 201 2004‒201 1 3513 35±13 n=4 n4 4 (n= 5 6 (60% CACNAS +12 (+12% +20 (+20% +17 (+17% 200420 2004‒20 351 35±1 n= (n (60 +1 (+12 +2 (+20 (+17 20042 2004‒2 35± (6 + (+1 (+2 2004‒ ( (+

https://doi.org/10.1016/j.bjane.2022.06.010

Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition diagnosis neuropathy
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Pinto, Marcus Vinicius

; França Jr, Marcondes Cavalcante

; Gonçalves, Marcus Vinicius Magno

; Machado-Costa, Marcela Câmara

; Freitas, Marcos Raimundo Gomes de

; Gondim, Francisco de Assis Aquino

; Marrone, Carlo Domenico

; Martinez, Alberto Rolim Muro

; Moreira, Carolina Lavigne

; Nascimento, Osvaldo J. M.

; Covaleski, Anna Paula Paranhos

; Oliveira, Acary Souza Bulle de

; Pupe, Camila Castelo Branco

; Rodrigues, Marcia Maria Jardim

; Rotta, Francisco Tellechea

; Scola, Rosana Herminia

; Marques Jr, Wilson

; Waddington-Cruz, Márcia

Arquivos de Neuro-Psiquiatria

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mar 2023, Volume 81 N. 3 Pages 308 - 321

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

Resumo Polineuropatia amiloidótica familiar associada a transtirretina (ATTRv-PN) é uma polineuropatia sensitivo-motora e autonômica hereditária autossômica dominante com mais de 130 variantes patogênicas já identificadas no gene TTR. A ATTRv-PN é uma condição genética debilitante, progressiva e que ameaça a vida, levando à morte em ~ 10 anos se não for tratada. Nas últimas décadas, a ATTRv-PN se tornou uma neuropatia tratável. Além do transplante de fígado, iniciado em 1990, temos agora 3 medicamentos modificadores de doença aprovados em muitos países, incluindo o Brasil, e muitas outras medicações estão em desenvolvimento. O primeiro consenso brasileiro em ATTRv-PN foi realizado em Fortaleza em junho de 2017. Devido aos novos avanços nesta área nos últimos 5 anos, o Departamento Científico de Neuropatias Periféricas da Academia Brasileira de Neurologia organizou uma segunda edição do consenso. Cada panelista ficou responsável por rever a literatura e atualizar uma parte do manuscrito. Finalmente, os 18 panelistas se reuniram virtualmente após revisão da primeira versão, discutiram cada parte do artigo e chegaram a um consenso sobre a versão final do manuscrito. ATTRvPN ATTRv PN (ATTRv-PN sensitivomotora sensitivo motora 13 TTR debilitante vida 1 tratada décadas tratável fígado 1990 países Brasil desenvolvimento 2017 manuscrito Finalmente 199 201 19 20 2

Abstract Hereditary transthyretin amyloidosis with peripheral neuropathy (ATTRv-PN) is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy with over 130 pathogenic variants identified in the TTR gene. Hereditary transthyretin amyloidosis with peripheral neuropathy is a disabling, progressive and life-threatening genetic condition that leads to death in ~ 10 years if untreated. The prospects for ATTRv-PN have changed in the last decades, as it has become a treatable neuropathy. In addition to liver transplantation, initiated in 1990, there are now at least 3 drugs approved in many countries, including Brazil, and many more are being developed. The first Brazilian consensus on ATTRv-PN was held in the city of Fortaleza, Brazil, in June 2017. Given the new advances in the area over the last 5 years, the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology organized a second edition of the consensus. Each panelist was responsible for reviewing the literature and updating a section of the previous paper. Thereafter, the 18 panelists got together virtually after careful review of the draft, discussed each section of the text, and reached a consensus for the final version of the manuscript. ATTRvPN ATTRv PN (ATTRv-PN 13 gene disabling lifethreatening life threatening 1 untreated decades transplantation 1990 countries Brazil developed Fortaleza 2017 paper Thereafter draft text manuscript 199 201 19 20 2

https://doi.org/10.1055/s-0043-1764412

Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review
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Pinto, Wladimir Bocca Vieira de Rezende

; Souza, Paulo Victor Sgobbi de

; Badia, Bruno Mattos Lombardi

; Farias, Igor Braga

; Albuquerque Filho, José Marcos Vieira de

; Gonçalves, Eduardo Augusto

; Machado, Roberta Ismael Lacerda

; Oliveira, Acary Souza Bulle

Arquivos de Neuro-Psiquiatria

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oct 2021, Volume 79 N. 10 Pages 912 - 923

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

RESUMO Antecedentes: Atrofia muscular espinhal (AME) de início no adulto representa um grupo de doenças neurodegenerativas hereditárias em expansão na prática clínica. Objetivo: Este artigo de revisão sintetiza os principais aspectos clínicos, genéticos, radiológicos, bioquímicos e neurofisiológicos relacionados às formas clássicas e recentemente descritas de AME proximal do adulto. Métodos: Os autores realizaram uma revisão crítica não sistemática descrevendo as principais apresentações de AME proximal de início no adulto. Resultados: Previamente restrito às apresentações de AME tipo 4 associada ao gene SMN1, este grupo atualmente envolve mais de 15 diferentes condições clínicas que compartilham entre si a presença de comprometimento progressivo e simétrico do neurônio motor inferior se iniciando no adulto ou no idoso. Novos subtipos clínicos e genéticos de AME proximal de início no adulto foram reconhecidas e são alvos atuais de estudos direcionados a aspectos neurorradiológicos, patológicos e genéticos. Conclusões: Este novo grupo complexo de doenças raras tipicamente se apresenta com doença do neurônio motor inferior em associação com outros sinais de comprometimento neurológico ou sistêmico, os quais apresentam padrões relativamente específicos para cada subtipo genético.

Abstract Background: Adult-onset spinal muscular atrophy (SMA) represents an expanding group of inherited neurodegenerative disorders in clinical practice. Objective: This review aims to synthesize the main clinical, genetic, radiological, biochemical, and neurophysiological aspects related to the classical and recently described forms of proximal SMA. Methods: The authors performed a non-systematic critical review summarizing adult-onset proximal SMA presentations. Results: Previously limited to cases of SMN1-related SMA type 4 (adult form), this group has now more than 15 different clinical conditions that have in common the symmetrical and progressive compromise of lower motor neurons starting in adulthood or elderly stage. New clinical and genetic subtypes of adult-onset proximal SMA have been recognized and are currently target of wide neuroradiological, pathological, and genetic studies. Conclusions: This new complex group of rare disorders typically present with lower motor neuron disease in association with other neurological or systemic signs of impairment, which are relatively specific and typical for each genetic subtype.

https://doi.org/10.1590/0004-282x-anp-2020-0429 205 downloads

Posicionamento sobre Diagnóstico e Tratamento da Amiloidose Cardíaca – 2021
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Simões, Marcus V.

; Fernandes, Fabio

; Marcondes-Braga, Fabiana G.

; Scheinberg, Philip

; Correia, Edileide de Barros

; Rohde, Luis Eduardo P.

; Bacal, Fernando

; Alves, Silvia Marinho Martins

; Mangini, Sandrigo

; Biolo, Andréia

; Beck-da-Silva, Luis

; Szor, Roberta Shcolnik

; Marques Junior, Wilson

; Oliveira, Acary Souza Bulle

; Cruz, Márcia Waddington

; Bueno, Bruno Vaz Kerges

; Hajjar, Ludhmila Abrahão

; Issa, Aurora Felice Castro

; Ramires, Felix José Alvarez

; Coelho Filho, Otavio Rizzi

; Schmidt, André

; Pinto, Ibraim Masciarelli Francisco

; Rochitte, Carlos Eduardo

; Valicelli, Flávio Henrique

; Vieira, Marcelo Luiz Campos

; Mesquita, Cláudio Tinoco

; Ramos, Celso Dario

; Soares-Junior, José

; Romano, Minna Moreira Dias

; Mathias Junior, Wilson

; Garcia Junior, Marcelo Iório

; Montera, Marcelo Westerlund

; Melo, Marcelo Dantas Tavares de

; Silva, Sandra Marques e

; Garibaldi, Pedro Manoel Marques

; Alencar Neto, Aristóteles Comte de

; Lopes, Renato Delascio

; Ávila, Diane Xavier de

; Viana, Denizar

; Saraiva, José Francisco Kerr

; Canesin, Manoel Fernandes

; Oliveira, Glaucia Maria Moraes de

; Mesquita, Evandro Tinoco

Arquivos Brasileiros de Cardiologia

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sep 2021, Volume 117 N. 3 Pages 561 - 598

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

https://doi.org/10.36660/abc.20210718 330 downloads

Spinocerebellar ataxia type 3 presenting simultaneously with motor neuron disease and cerebellar ataxia
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Jaques, Cristina Saade

; Pedroso, José Luiz

; Rocha, Antônio José da

; Pinto, Wladimir Bocca Vieira de Resende

; Oliveira, Acary Souza Bulle

; Barsottini, Orlando G. P.

Arquivos de Neuro-Psiquiatria

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sep 2021, Volume 79 N. 9 Pages 851 - 852

Abstract: En | Text: En | PDF: En

https://doi.org/10.1590/0004-282x-anp-2020-0189 139 downloads

Computed tomography with low-dose radiation versus standard-dose radiation for diagnosing fractures: systematic review and meta-analysis
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Luís Duarte, Márcio

; dos Santos, Lucas Ribeiro

; Oliveira, Acary Souza Bulle

; Iared, Wagner

; Peccin, Maria Stella

Sao Paulo Medical Journal

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aug 2021, Volume 139 N. 4 Pages 388 - 397

Abstract: En | Text: En | PDF: En

BACKGROUND: Computed tomography (CT) accounts for 13% of all radiological examinations in the United States and 40-70% of the radiation that patients receive. Even with the advent of magnetic resonance imaging (MRI), CT continues to be the gold standard for diagnosing bone fractures. There is uncertainty as to whether CT with a low radiation dose has a fracture detection rate similar to that of standard-dose CT. OBJECTIVE: To determine the detection rate of low-dose radiation CT and standard-dose radiation CT for fractures, in patients with suspected fractures. DESIGN AND SETTING: Systematic review of comparative studies on diagnostic accuracy within the evidence-based health program at a federal university in São Paulo (SP), Brazil. METHODS: We searched the electronic databases Cochrane Library, MEDLINE, EMBASE and LILACS up to June 29, 2020, for studies evaluating the detection rates of low-dose CT and standard-dose CT for diagnosing bone fractures. The Research Triangle Institute (RTI) item bank tool was used for methodological quality evaluation. RESULTS: The fracture detection rate according to the number of bones evaluated, using CT with low-dose radiation was 20.3%, while with standard-dose radiation it was 19.2%, and the difference between the methods was not significant. The fracture detection rate according to the number of patients, using CT with low-dose radiation was 56.0%, while with standard-dose radiation it was 58.7%, and this difference between the methods was not significant, either. CONCLUSION: CT with low-dose radiation presented detection rates similar to those of CT with standard-dose radiation, regardless of the bones evaluated. REGISTRATION NUMBER: CRD42019148491 at the PROSPERO database.

https://doi.org/10.1590/1516-3180.2020.0374.r3.1902021 4 downloads

10.

Neuromuscular choristoma: a rare cause of congenital non-progressive lower limb amyotrophy
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MACHADO, Roberta Ismael Lacerda

; ALBUQUERQUE FILHO, José Marcos Vieira de

; SOUZA, Paulo Victor Sgobbi de

; AIVAZOGLOU, Laís Uyeda

; BADIA, Bruno de Mattos Lombardi

; OGATA, Stéphanie Yuri Torres

; FARIAS, Igor Braga

; AIHARA, André Yui

; FERNANDES, Artur da Rocha Corrêa

; PINTO, Wladimir Bocca Vieira de Rezende

; OLIVEIRA, Acary Souza Bulle

Arquivos de Neuro-Psiquiatria

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may 2021, Volume 79 N. 5 Pages 465 - 466

Abstract: En | Text: En | PDF: En

https://doi.org/10.1590/0004-282x-anp-2020-0370 147 downloads

11.

Acute hepatic porphyrias for the neurologist: current concepts and perspectives
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Souza, Paulo Victor Sgobbi de

; Badia, Bruno de Mattos Lombardi

; Farias, Igor Braga

; Gonçalves, Eduardo Augusto

; Pinto, Wladimir Bocca Vieira de Rezende

; Oliveira, Acary Souza Bulle

Arquivos de Neuro-Psiquiatria

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jan 2021, Volume 79 N. 1 Pages 68 - 80

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

RESUMO Introdução: As porfirias hepáticas agudas representam um grupo de doenças metabólicas hereditárias complexas em expansão, decorrentes de erros inatos do metabolismo, envolvendo a via de biossíntese do grupamento heme. Objetivo: realizar revisão dos principais aspectos clínicos e terapêuticos associados com as porfirias hepáticas agudas. Métodos: Os autores realizaram ampla revisão não-sistemática sobre conceitos atuais e conhecimentos recentemente adquiridos. Resultados: Ataques neuroviscerais agudos representam a apresentação clínica mais comum e de maior risco, e são comumente considerados como principal manifestação na prática clínica durante o diagnóstico diferencial e início apropriado da investigação diagnóstica para porfirias agudas. Entretanto, apresentações atípicas com envolvimento do sistema nervoso central, alterações neuropsiquiátricas e alguns subtipos com fotossensibilidade fazem com que o diagnóstico definitivo seja comumente difícil e tardio. As intervenções terapêuticas precoces são essenciais durante o tratamento emergencial e em período intercrítico evitando formas recorrentes graves. A disponibilidade de novas propostas terapêuticas modificadoras de doença baseadas em terapias com pequenas moléculas de RNA de interferência (siRNA) complementares aos clássicos tratamentos com infusão de glicose intravenosa e à base de hemina enfatiza a importância do diagnóstico precoce de tais pacientes e do aconselhamento genético. Conclusões: Este artigo de revisão destaca os principais aspectos bioquímicos, fisiopatológicos, clínicos e terapêuticos das porfirias hepáticas agudas na prática clínica.

ABSTRACT 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.

https://doi.org/10.1590/0004-282x20200096 791 downloads

12.

Miopatia mitocondrial e deficiência auditiva neurossensorial: estudo de caso
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Silva, Renata da

; Souza, Marilia Rodrigues Freitas de

; Oliveira, Acary Souza Bulle

; Iório, Maria Cecília Martinelli

CoDAS

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2021, Volume 33 N. 4 elocation e20200021

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

Resumo A miopatia mitocondrial é causada pela ausência e/ou insuficiência de uma enzina quaternária, L-carnitina, responsável por transportar ácidos graxos livres para a parte interna da mitocôndria. A função da mitocôndria é produzir energia, contribuindo para o bom funcionamento das células. A Lipidose Muscular é uma doença que provoca anomalias em enzimas que metabolizam gordura e por consequência causa acúmulo de toxinas de subprodutos com gordura nos tecidos. O objetivo deste trabalho é apresentar o estudo de caso da paciente B.D., 37 anos, diagnosticada com Lipidose Muscular aos seis anos, com deficiência de L-Carnitina e relatar o acompanhamento fonoaudiológico realizado em um serviço de saúde auditiva. A abertura de prontuário da paciente foi realizada em 05/03/1989. Foi prescrito pelo neurologista o uso contínuo de 2g/dia de L-carnitina. A mãe relatou que B.D. apresentava dificuldades em ouvir, pois era muito desatenta, o que foi mais evidente quando começou a frequentar a escola. Em 1988, a paciente foi diagnosticada com perda auditiva neurossensorial de grau moderado bilateral e começou a fazer uso de aparelhos de amplificação sonora individual retroauriculares em 1989. O desempenho escolar e comunicação melhoraram. Em 1998, passou a utilizar aparelhos tipo micro canal, o que a favoreceu esteticamente, promoveu melhora da localização sonora e maior ganho em altas frequências. Os limiares de audibilidade apresentaram uma leve piora e a paciente atualmente é pós-graduada e trabalha em uma grande instituição financeira. Conclui-se que o diagnostico neurológico e a intervenção fonoaudiológica precoces possibilitaram o adequado desenvolvimento de linguagem da paciente.

Abstract Mitochondrial myopathy is caused by the absence and/or insufficiency of L-carnitine, a quaternary enzyme responsible for transporting free fatty acids into the mitochondria. The primary function of the mitochondria is to produce energy, contributing to proper cell functioning. Muscular lipidosis causes abnormalities in enzymes that metabolize fat, resulting in the accumulation of harmful amounts of fats in tissues. The aim of this study was to present the case study of patient B.D., a 37-year-old woman diagnosed with muscular lipidosis with L-carnitine deficiency at 6 years old, and describe the speech-language follow-up performed at a hearing care clinic. The first entry in the patient’s medical chart was on 03/05/1989, with continuous use of 2g/day of L-carnitine prescribed by a neurologist. The mother reported that B.D. had difficulty hearing and was inattentive, which became more evident when she started school. In 1988 the patient was diagnosed with moderate bilateral sensorineural hearing loss and began using behind-the-ear (BTE) hearing aids in 1989, after which her academic performance and communication improved. In 1998 she switched to Completely in Canal (CIC) hearing aids, which are more discreet, provided better sound localization and greater high frequency gain, although her hearing thresholds worsened slightly. She completed her graduate studies and currently works at a large financial institution. It was concluded that early neurological diagnosis and speech-language intervention enabled adequate language development in the patient.

https://doi.org/10.1590/2317-1782/20202020021 1 downloads

13.

Action of hormonal therapy in amyotrophic lateral sclerosis: a systematic review
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Vasconcelos, Kátia de

; Oliveira, Acary Souza Bulle

; Fuchs, Luiz Fernando Portugal

; Simões, Ricardo Santos

; Simoes, Manuel de Jesus

; Girão, Manoel João Batista Castello

; Soares Júnior, Jose Maria

; Baracat, Edmund Chada

Revista da Associação Médica Brasileira

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nov 2020, Volume 66 N. 11 Pages 1589 - 1594

Abstract: En | Text: En | PDF: En

SUMMARY Amyotrophic Lateral Sclerosis (ALS) is a fatal disease characterized by muscle weakness, atrophy, fasciculations, and decreased reflexes due to upper and lower motor neurons death. It can be present in both sexes (55-65 years), but with predominance in males. However, in female patients, ALS presents its first symptoms when they are already postmenopausal, when then the incidence ratio of the disease is practically equal between the sexes, which leads to a probable involvement of sex hormones in the development and protection against ALS. The aim of this systematic review, which used the PRISMA consensus and NOS (New Castle-Ottawa Scale) score, was to evaluate the evidence of the action of hormone therapy in women with ALS. The Medline and Cochrane databases were accessed from March 2019 to June 2019, and only full-text articles in Spanish, English, and Portuguese were included. Only four articles matched our inclusion criteria. Postmenopausal women who used exogenous estrogen did not have the same protective factor as women still under the action of endogenous estrogen in the same age group. There was also no increase in the survival of these women.

https://doi.org/10.1590/1806-9282.66.11.1589 683 downloads

14.

Hardy-Weinberg Equilibrium in different mitochondrial haplogroups of four genes associated with neuroprotection and neurodegeneration
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MEHRPOUR, Sheida

; RODRIGUES, Camila Ronqui

; FERREIRA, Renata Carmona

; BRIONES, Marcelo Ribeiro da Silva

; OLIVEIRA, Acary Souza Bulle

Arquivos de Neuro-Psiquiatria

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may 2020, Volume 78 N. 5 Pages 269 - 276

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

RESUMO Introdução: Mitocôndrias defeituosas ou danificadas resultam em alterações do metabolismo energético, equilíbrio redox e dinâmica celular e são, portanto, identificadas como o ponto central da patogênese em muitos distúrbios neurológicos, como a doença de Alzheimer, a doença de Parkinson, a doença de Huntington e a Esclerose Lateral Amiotrófica. Portanto, é de fundamental importância identificar marcadores de susceptibilidade genética mitocondrial para doenças neurodegenerativas. Entre os potenciais marcadores relevantes estão as enzimas da cadeia respiratória riboflavina quinase (RFK), flavina adenina dinucleotídeo sintetase (FAD), succinato desidrogenase subunidade B (SDHB) e citocromo C1 (CYC1). Estas enzimas estão associadas à neuroproteção e à neurodegeneração. Objetivo: Testar se variantes nas sequências dos genes RFK, FAD, SDHB e CYC1 desviam do Equilíbrio de Hardy-Weinberg (HWE) em diferentes haplogrupos mitocondriais humanos. Métodos: Neste trabalho utilizamos os variantes nos genes RFK, FAD, SDHB e CYC1 de sequências de 2.504 indivíduos não afetados do projeto de 1.000 genomas para o cálculo dos valores de HWE em diferentes haplogrupos mitocondriais. Resultados: As variantes de RFK desviam de HWE nos haplogrupos G, H, L, V e W, variantes de FAD nos haplogrupos B, J, L, U e C, variantes de SDHB em relação às variantes C, W e A e CYC1 em B, L, U, D e T. O desvio de HWE indica a ação de pressões seletivas e desvio genético. Conclusões: O desvio do HWE de variantes particulares em relação ao HWE populacional global poderia estar, pelo menos em parte, associado à suscetibilidade diferencial de populações e etnias específicas a doenças neurodegenerativas. Nossos dados podem contribuir para a epidemiologia e métodos diagnósticos/prognósticos para doenças neurodegenerativas.

ABSTRACT Background: Malfunctioning or damaged mitochondria result in altered energy metabolism, redox equilibrium, and cellular dynamics and is a central point in the pathogenesis of neurological disorders such as Alzheimer’s disease, Parkinson’s disease, Huntington’s disease and Amyotrophic Lateral Sclerosis. Therefore, it is of utmost importance to identify mitochondrial genetic susceptibility markers for neurodegenerative diseases. Potential markers include the respiratory chain enzymes Riboflavin kinase (RFK), Flavin adenine dinucleotide synthetase (FAD), Succinate dehydrogenase B subunit (SDHB), and Cytochrome C1 (CYC1). These enzymes are associated with neuroprotection and neurodegeneration. Objective: To test if variants in genes RFK, FAD, SDHB and CYC1 deviate from Hardy-Weinberg Equilibrium (HWE) in different human mitochondrial haplogroups. Methods: Sequence variants in genes RFK, FAD, SDHB and CYC1 of 2,504 non-affected individuals of the 1,000 genomes project were used for mitochondrial haplogroup assessment and HWE calculations in different mitochondrial haplogroups. Results: We show that RFK variants deviate from HWE in haplogroups G, H, L, V and W, variants of FAD in haplogroups B, J, L, U, and C, variants of SDHB in relation to the C, W, and A and CYC1 variants in B, L, U, D, and T. HWE deviation indicates action of selective pressures and genetic drift. Conclusions: HWE deviation of particular variants in relation to global populational HWE, could be, at least in part, associated with the differential susceptibility of specific populations and ethnicities to neurodegenerative diseases. Our data might contribute to the epidemiology and diagnostic/prognostic methods for neurodegenerative diseases.

https://doi.org/10.1590/0004-282x20200002 1417 downloads

15.

Ultrasound versus electromyography for the detection of fasciculation in amyotrophic lateral sclerosis: systematic review and meta-analysis
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Duarte, Márcio Luís

; Iared, Wagner

; Oliveira, Acary Souza Bulle

; Santos, Lucas Ribeiro dos

; Peccin, Maria Stella

Radiologia Brasileira

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apr 2020, Volume 53 N. 2 Pages 116 - 121

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

Resumo O objetivo deste estudo foi determinar a acurácia diagnóstica da ultrassonografia e da eletroneuromiografia para o diagnóstico da fasciculação e comparar suas taxas de detecção. Foram realizadas buscas nas bases de dados eletrônicas Cochrane Library, MEDLINE, Embase e Lilacs, para estudos que avaliam a acurácia diagnóstica e as taxas de detecção da ultrassonografia e eletroneuromiografia. As ferramentas Quality Assessment of Diagnostic Accuracy Studies, versão 2, e RTI item bank foram utilizadas para avaliação da qualidade do método. A ultrassonografia, tanto de 10 s quanto de 30 s, apresentou taxa de detecção superior à eletroneuromiografia em todos os músculos avaliados. A avaliação da taxa de detecção por pacientes não apresentou diferença significativa entre a ultrassonografia de 10 s e 30 s. A acurácia da ultrassonografia de 10 s nos músculos foi de 70%, enquanto nos pacientes foi de 85%. Já na ultrassonografia de 30 s, a acurácia nos pacientes foi de 82%. A ultrassonografia apresentou taxas de detecção superiores à eletroneuromiografia, independentemente do tempo de sua avaliação e dos músculos avaliados.

Abstract The objective of this study was to determine the diagnostic accuracy of ultrasound and electromyography for the detection of fasciculation in patients with amyotrophic lateral sclerosis and to compare detection rates between the two methods. By searching the Cochrane Library, MEDLINE, Excerpta Medica, and Latin-American and Caribbean Health Sciences Literature databases, we identified studies evaluating the diagnostic accuracy and fasciculation detection rates of ultrasound and electromyography. The Quality Assessment of Diagnostic Accuracy Studies, version 2, and RTI item bank tools were used for the evaluation of methodological quality. Ultrasound, for 10 s or 30 s, had a higher detection rate than did electromyography in all muscles evaluated. The overall detection rate (in patients) did not differ significantly between ultrasound for 10 s and ultrasound for 30 s. The accuracy of ultrasound for 10 s was 70% in muscles and 85% in patients. The accuracy of ultrasound for 30 s was 82% in patients. Ultrasound provided detection rates superior to those achieved with electromyography, independent of the examination time and muscles evaluated.

https://doi.org/10.1590/0100-3984.2019.0055 1095 downloads

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