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1.
Genes (Basel) ; 15(3)2024 Feb 28.
Article in English | MEDLINE | ID: mdl-38540369

ABSTRACT

Juvenile Amyotrophic Lateral Sclerosis is a genetically heterogeneous neurodegenerative disorder, which is frequently misdiagnosed due to low clinical suspicion and little knowledge about disease characteristics. More than 20 different genetic loci have been associated with both sporadic and familial juvenile Amyotrophic Lateral Sclerosis. Currently, almost 40% of cases have an identifiable monogenic basis; type 6, associated with FUS gene variants, is the most prevalent globally. Despite several upper motor neuron-dominant forms being generally associated with long-standing motor symptoms and slowly progressive course, certain subtypes with lower motor neuron-dominant features and early bulbar compromise lead to rapidly progressive motor handicap. For some monogenic forms, there is a well-established genotypic-phenotypic correlation. There are no specific biochemical and neuroimaging biomarkers for the diagnosis of juvenile Amyotrophic Lateral Sclerosis. There are several inherited neurodegenerative and neurometabolic disorders which can lead to the signs of motor neuron impairment. This review emphasizes the importance of high clinical suspicion, assessment, and proper diagnostic work-up for juvenile Amyotrophic Lateral Sclerosis.


Subject(s)
Amyotrophic Lateral Sclerosis , Humans , Amyotrophic Lateral Sclerosis/diagnosis , Amyotrophic Lateral Sclerosis/genetics , Motor Neurons , Neuroimaging
2.
Orphanet J Rare Dis ; 18(1): 49, 2023 03 08.
Article in English | MEDLINE | ID: mdl-36890577

ABSTRACT

BACKGROUND: Porphyrias are a rare group of disease due to inherited defects of heme synthesis with important systemic manifestations and great burden of disease for patients and families due to the exceptional course of disease with disabling chronic symptoms interposed by life-threatening acute attacks. Unfortunately, the porphyrias are usually underrecognized reflecting a lack of medical and disease awareness as well as few studies about natural history in large cohorts of patients. The main aim of this article is present consistent data about natural history and burden of disease in a large Brazilian cohort. METHODS: We conducted a national cross-sectional registry with retrospective clinical data of Brazilian patients with porphyria collected with Brazilian patients Association with Porphyria in collaboration with a tertiary care center for rare diseases. RESULTS: A cohort of 172 patients was analyzed in which 148 (86%) patients had the diagnosis of acute hepatic porphyria [AHP] that needed a mean of 62.04 medical visits and 9.6 years to achieve a definitive diagnosis. About AHP cohort, the most common first clinical manifestation were abdominal pain in 77 (52%) patients and acute muscle weakness in 23 (15.5%) with 73 (49.3%) patients presenting only one attack during disease course and 37 (25%) exhibiting 4 or more attacks in the last year. Of note, 105 patients with AHP reported chronic manifestations and the scores for quality of life are lower when compared with general healthy population. CONCLUSIONS: Brazilian patients with AHP had a higher prevalence of chronic disabling manifestations and a poor quality of life like other cohorts and a higher proportion of patients with recurrent attacks than previously reported.


Subject(s)
Porphyria, Acute Intermittent , Porphyrias , Humans , Retrospective Studies , Quality of Life , Brazil/epidemiology , Cross-Sectional Studies , Porphyrias/genetics , Porphyrias/complications , Porphyrias/diagnosis , Porphyria, Acute Intermittent/genetics
3.
Arq. Asma, Alerg. Imunol ; 7(1): 123-126, 20230300. ilus
Article in English | LILACS | ID: biblio-1509647

ABSTRACT

Autoimmune diseases have been progressively recognized as a potential complication of primary immunodeficiency, especially for some genetic subtypes of common variable immunodeficiency. Although often associated with other autoimmune disorders, autoimmune myasthenia gravis is occasionally identified as a neuromuscular complication of primary immunodeficiency. We report the case of a Brazilian woman with common variable immunodeficiency-8 due to an LRBA variant, in which myasthenia gravis was identified in association with anti-acetylcholine receptor antibody. Marked clinical improvement occurred after intravenous immunoglobulin therapy.


Doenças autoimunes foram progressivamente reconhecidas como complicações potenciais das imunodeficiências primárias, especialmente para alguns subtipos genéticos das imunodeficiências comuns variáveis. Embora se associe comumente a outras doenças autoimunes, a Miastenia gravis autoimune adquirida foi raramente associada como complicação neuromuscular de imunodeficiências primárias. É descrito neste artigo o caso de paciente brasileira do sexo feminino com diagnóstico de Imunodeficiência Comum Variável tipo 8 por variante no gene LRBA, na qual foi identificada Miastenia gravis em associação a anticorpos antirreceptor de acetilcolina. Ela evoluiu com marcante melhora clínica após a introdução de terapêutica com imunoglobulina endovenosa.


Subject(s)
Humans , Female , Adult
4.
J Pediatr Genet ; 12(4): 301-307, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38162165

ABSTRACT

Charcot-Marie-Tooth's disease (CMT) represents the most common inherited neuropathy. Most patients are diagnosed during late stages of disease course during adulthood. We performed a review of clinical, neurophysiological, and genetic diagnoses of 32 patients with genetically defined childhood-onset demyelinating CMT under clinical follow-up in a Brazilian Center for Neuromuscular Diseases from January 2015 to December 2019. The current mean age was 33.1 ± 18.3 years (ranging from 7 to 71 years) and mean age at defined genetic diagnosis was 36.1 ± 18.3 years. The mean age at onset was 6.1 ± 4.4 years. The most common initial complaint was bilateral pes cavus. The genetic basis included PMP22 duplication (CMT1A) ( n = 18), GJB1 (CMTX1) ( n = 5), MPZ (CMT1B) ( n = 3), FIG4 (CMT4J) ( n = 3), SH3TC2 (CMT4C) ( n = 1), PLEKHG5 (CMTRIC) ( n = 1), and PRX (CMT4F) ( n = 1). Almost all patients ( n = 31) presented with moderate or severe compromise in the CMT neuropathy score 2 with the highest values observed in CMT1B. Medical history disclosed obstructive sleep apnea ( n = 5), aseptic meningitis ( n = 1/ MPZ ), akinetic-rigid parkinsonism ( n = 1/ FIG4 ), and overlapping chronic inflammatory demyelinating polyneuropathy ( n = 1/ MPZ ). Motor conduction block was detected in three individuals ( PMP22 , FIG4 , MPZ ). Acute denervation occurred in seven patients. Nonuniform demyelinating patterns were seen in four individuals (two CMT1A, one CMT1B, and one CMTX1). Abnormal cerebral white matter findings were detected in CMT1A and CMTX1, while hypertrophic roots were seen in CMT1A, CMT1B, and CMTX1. Our study emphasizes a relative oligogenic basis in childhood-onset demyelinating CMT and atypical findings may be observed especially in MPZ , PMP22 , and GJB1 gene variants.

6.
Arq Neuropsiquiatr ; 79(10): 912-923, 2021 10.
Article in English | MEDLINE | ID: mdl-34706022

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.


Subject(s)
Motor Neuron Disease , Muscular Atrophy, Spinal , Radiology , Adult , Humans , Muscular Atrophy, Spinal/genetics , Neurophysiology , Rare Diseases
7.
Arq. neuropsiquiatr ; 79(10): 912-923, Oct. 2021. tab, graf
Article in English | LILACS | ID: biblio-1345319

ABSTRACT

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.


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.


Subject(s)
Humans , Radiology , Muscular Atrophy, Spinal/genetics , Motor Neuron Disease , Rare Diseases , Neurophysiology
8.
Orphanet J Rare Dis ; 16(1): 360, 2021 08 11.
Article in English | MEDLINE | ID: mdl-34380534

ABSTRACT

BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and fatal neurodegenerative disease due to upper and lower motor neuron involvement with symptoms classically occurring in adulthood with an increasing recognition of juvenile presentations and childhood neurodegenerative disorders caused by genetic variants in genes related to Amyotrophic Lateral Sclerosis. The main objective of this study is detail clinical, radiological, neurophysiological, and genetic findings of a Brazilian cohort of patients with a recent described condition known as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency and compare with other cases described in the literature and discuss whether the clinical picture related to SOD1 protein deficiency is a new entity or may be represent a very early-onset form of Amyotrophic Lateral Sclerosis. METHODS: We conducted a case series report which included retrospective data from five Brazilian patients with SOD1 protein deficiency of a Brazilian reference center for Neuromuscular Disorders. Clinical data were obtained from a review of the medical records and descriptive statistics and variables were summarized using counts and percentages of the total population. RESULTS: All 5 patients presented with a childhood-onset neurodegenerative disorders characterized by spastic tetraplegia with axial hypotonia in all cases, with gestational history showing polyhydramnios in 4/5 and intrauterine growth restriction in 3/5 patients, with most patients initially presenting a normal motor development until the six month of life or during the first year followed by a rapidly progressive motor decline with severe dysphagia and respiratory insufficiency in all patients accompanied by cognitive impairment in 3/5 patients. All patients were homozygous for the c.335dupG (p.Cys112Trpfs*11) mutation in the SOD1 gene with completely decreased enzyme activity. CONCLUSIONS: This case series is the biggest data collection of the new recent clinical entity described as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency.


Subject(s)
Amyotrophic Lateral Sclerosis , Muscle Hypotonia , Superoxide Dismutase-1 , Adult , Amyotrophic Lateral Sclerosis/genetics , Child , Humans , Muscle Hypotonia/genetics , Mutation/genetics , Quadriplegia/genetics , Retrospective Studies , Superoxide Dismutase-1/genetics
12.
Rev Bras Reumatol ; 54(2): 95-101, 2014.
Article in English, Portuguese | MEDLINE | ID: mdl-24878855

ABSTRACT

INTRODUCTION: Systemic sclerosis (SSc) is a multisystem disease, autoimmune disorder characterized by a fibroblastic disfunction, with significant impact on quality of life (QoL), measured by instruments or questionnaires that usually were formulated in other languages and in different cultural contexts. OBJECTIVE: Translate into Brazilian Portuguese, cross cultural adaptation and assess the reliability and validity of the Systemic Sclerosis Questionnaire (SySQ). METHODOLOGY: Translation and adaptation: into Portuguese and cross-cultural adaptation was performed in accordance with studies on questionnaire translation methodology into other languages. Reliability: it was analyzed using three interviews with different interviewers, two on the same day (interobserver) and the third within 14 days of the first assessment (intraobserver).Validity was assessed by correlating clinical and quality of life parameters with the domain scores of Sysc. STATISTICAL ANALYSIS: a descriptive analysis of the study sample. Reproducibility was assessed using an intraclass correlation coefficient (ICC). Internal consistency was assessed using Cronbach's alpha coefficient. To assess validity we used Spearman correlation coefficient. Five percent was the level of significance adopted for all statistical tests. RESULTS: In the evaluation of the questionnaires, the results were similar to the original questionnaire, the internal consistency ranging between 0.73 and 0.93 for each item. The interobserver reproducibility was very good for all domains (α = 0.786 to 0.983) and intraobserver agreement was considered very good for general symptoms domain (ICC = 0.916), good for musculoskeletal symptoms domain (ICC = 0.897) and cardiopulmonary domain (ICC = 0.842) and reasonable for gastrointestinal symptoms domain (ICC = 0.686). CONCLUSION: The Brazilian Portuguese version of SySQ proved to be reproducible and valid for our population, using a recognized methodology for translation and cultural adaptation of questionnaires, as well as to assess the reproducibility and validity.


Subject(s)
Quality of Life , Scleroderma, Systemic , Surveys and Questionnaires , Adult , Brazil , Cultural Characteristics , Female , Humans , Male , Scleroderma, Systemic/diagnosis , Translations
13.
Rev Bras Reumatol ; 54(2): 131-9, 2014.
Article in English, Portuguese | MEDLINE | ID: mdl-24878860

ABSTRACT

This article is a systematic review of the literature about the coexistence of cancer and autoimmune rheumatic diseases, their main associations, cancers and possible risk factors associated, with emphasis on existing population-based studies, besides checking the relation of this occur with the use of the drugs used in the treatment of autoimmune diseases. A search was conducted of scientific articles indexed in the Cochrane / BVS, Pubmed / Medline and Scielo / Lilacs in the period from 2002 to 2012. Also consulted was the IB-ICT (Brazilian digital library of theses and Masters), with descriptors in Portuguese and English for "Systemic sclerosis", "Rheumatoid Arthritis", " Systemic Lupus Erythematosus" and "Sjögren's syndrome", correlating each one with the descriptor AND "neoplasms". The results showed that in the database IBICT a thesis and a dissertation for the descriptor SLE met the inclusion criteria, none met RA one thesis to SS. Lilacs in the database/Scielo found two articles on "Rheumatoid Arthritis" AND "neoplasms". In Pubmed/Medline the inicial search resulted in 118 articles, and 41 were selected. The review noted the relationship between cancer and autoimmune rheumatic diseases, as well as a risk factor for protection, although the pathophysiological mechanisms are not known.


Subject(s)
Autoimmune Diseases/complications , Neoplasms/epidemiology , Neoplasms/etiology , Rheumatic Diseases/complications , Rheumatic Diseases/immunology , Arthritis, Rheumatoid/complications , Autoimmune Diseases/epidemiology , Humans , Incidence , Lupus Erythematosus, Systemic/complications , Prevalence , Rheumatic Diseases/epidemiology , Sjogren's Syndrome/complications
14.
Einstein (Sao Paulo) ; 12(1): 36-41, 2014.
Article in English | MEDLINE | ID: mdl-24728244

ABSTRACT

OBJECTIVE: To report the experience in three Brazilian institutions with the use of rituximab in patients with different clinical forms of lupus erythematosus systemic in activity. METHODS: The study consisted of a sample of 17 patients with LES, who were already being treated, but that at some stage of the disease showed refractory symptoms. The patients were subdivided into groups according to the clinical manifestation, and the responses for the use of rituximab were rated as complete, partial or no response. Data were collected through a spreadsheet, and used specific parameters for each group. The treatment was carried on by using therapeutic dose of 1g, and repeating the infusion within an interval of 15 days. RESULTS: The clinical responses to rituximab of the group only hematological and of the group only osteoarticular were complete in all cases. In the renal group there was a clinical complete response, two partial and one absent. In the renal and hematological group complete response, there was one death and a missing response. The pulmonary group presented a complete response and two partial. CONCLUSION: The present study demonstrated that rituximab can bring benefits to patients with lupus erythematosus systemic, with good tolerability and mild side effects; it presented, however, variable response according to the system affected.


Subject(s)
Antibodies, Monoclonal, Murine-Derived/therapeutic use , Immunologic Factors/therapeutic use , Lupus Erythematosus, Systemic/drug therapy , Adult , Brazil , Dose-Response Relationship, Drug , Female , Humans , Lung Diseases/drug therapy , Lung Diseases/etiology , Lupus Erythematosus, Systemic/complications , Male , Middle Aged , Retrospective Studies , Rituximab , Time Factors , Treatment Outcome
15.
Rev. bras. reumatol ; 54(2): 95-101, Mar-Apr/2014. tab
Article in Portuguese | LILACS | ID: lil-710215

ABSTRACT

Introdução: A esclerose sistêmica (ES) é uma doença multissistêmica, autoimune, caracterizada por disfunção fibroblástica e vasculopatia, causando grande impacto na qualidade de vida (QV). Esta é mensurada por instrumentos ou questionários, geralmente formulados em outros idiomas e inseridos em contextos culturais distintos. Objetivo: Traduzir, adaptar culturalmente e validar para a língua portuguesa (Brasil) o questionário do Systemic Sclerosis Questionnaire (SySQ) de QV em ES. Metodologia: Tradução e adaptação: etapa realizada de acordo com metodologia específica de tradução de questionários. Confiabilidade: foi analisada através de três entrevistas, realizadas por diferentes entrevistadores, sendo duas no mesmo dia (interobservação) e uma terceira após 14 dias (intraobservação). Validade: avaliada pela correlação clínica e parâmetros de QV com os domínios do Sysc. Análise estatística: realizada análise descritiva da amostra. A reprodutibilidade foi avaliada através de um coeficiente de correlação intraclasse (ICC) e a consistência interna pelo coeficiente alfa de Cronbach, já para analisar a validade utilizou o coeficiente de correlação de Spearman. Resultados: Foram observados 16 pacientes portadores de ES. Os nossos resultados foram semelhantes aos do questionário original, com a consistência interna variando entre 0,73 e 0,93 para cada item. A reprodutibilidade interobservador foi muito boa para todos os domínios (α = 0,786 a 0,983), e a intraobservador foi muito boa para o domínio de sintomas gerais (CCI = 0,916), boa para os domínios de sintomas musculoesqueléticos (CCI = 0,897) e cardiopulmonares (CCI = 0,842) e razoáveis para o de sintomas gastrintestinais (CCI = ...


Introduction: Systemic sclerosis (SSc) is a multisystem disease, autoimmune disorder characterized by a fibroblastic disfunction, with significant impact on quality of life (QoL), measured by instruments or questionnaires that usually were formulated in other languages and in different cultural contexts. Objective: Translate into Brazilian Portuguese, cross cultural adaptation and assess the reliability and validity of the Systemic Sclerosis Questionnaire (SySQ). Methodology: Translation and adaptation: into Portuguese and cross-cultural adaptation was performed in accordance with studies on questionnaire translation methodology into other languages. Reliability: it was analyzed using three interviews with different interviewers, two on the same day (interobserver) and the third within 14 days of the first assessment (intraobserver).Validity was assessed by correlating clinical and quality of life parameters with the domain scores of Sysc. Statistical analysis: a descriptive analysis of the study sample. Reproducibility was assessed using an intraclass correlation coefficient (ICC). Internal consistency was assessed using Cronbach's alpha coefficient. To assess validity we used Spearman correlation coefficient. Five percent was the level of significance adopted for all statistical tests. Results: In the evaluation of the questionnaires, the results were similar to the original questionnaire, the internal consistency ranging between 0.73 and 0.93 for each item. The interobserver reproducibility was very good for all domains (α = 0.786 to 0.983) and intraobserver agreement was considered very good for general symptoms domain (ICC = 0.916), good for musculoskeletal symptoms domain (ICC = 0.897) and cardiopulmonary domain (ICC = 0.842) and reasonable for gastrointestinal symptoms domain (ICC = 0.686). Conclusion: The Brazilian Portuguese version of SySQ proved to be reproducible and valid for our population, using a recognized ...


Subject(s)
Adult , Female , Humans , Male , Quality of Life , Scleroderma, Systemic , Surveys and Questionnaires , Brazil , Cultural Characteristics , Scleroderma, Systemic/diagnosis , Translations
16.
Rev. bras. reumatol ; 54(2): 131-139, Mar-Apr/2014. tab, graf
Article in Portuguese | LILACS | ID: lil-710221

ABSTRACT

O presente artigo é uma revisão sistemática da literatura que aborda a coexistência de neoplasias e doenças reumatológicas autoimunes, suas principais associações, tipos de cânceres e os possíveis fatores de riscos associados, com ênfase nos estudos de base populacional existentes, além de verificar a relação dessa ocorrência com o uso dos fármacos utilizados no tratamento de doenças autoimunes. Foi realizada uma busca de artigos científicos indexados na Cochrane/BVS, Pubmed/Medline e Scielo/Lilacs no período de 2002 a 2012. Também foi consultada a IBICT (biblioteca digital brasileira de teses e mestrados), com os descritores em português e inglês para as palavras: "Esclerose sistêmica", "Artrite reumatoide", "Lúpus Eritematoso Sistêmico" e "Síndrome de Sjögren", correlacionando cada um com o descritor AND "neoplasias". Os resultados mostraram que, na base de dados IBICT, preencheram os critérios de inclusão uma tese e uma dissertação para o descritor LES, nenhuma para AR e uma tese para SS. Na base de dados Lilacs/Scielo foram encontrados dois artigos sobre "Artrite Reumatoide" AND "neoplasias". No Pubmed/Medline, a busca inicial resultou em 118 artigos; destes, preencheram os critérios e foram secionados 41 artigos. Esta revisão observou relação entre neoplasias e as doenças reumatológicas autoimunes, tanto como fator de risco quanto de proteção, embora os mecanismos fisiopatológicos não estejam totalmente elucidados.


This article is a systematic review of the literature about the coexistence of cancer and autoimmune rheumatic diseases, their main associations, cancers and possible risk factors associated, with emphasis on existing population-based studies, besides checking the relation of this occur with the use of the drugs used in the treatment of autoimmune diseases. A search was conducted of scientific articles indexed in the Cochrane / BVS, Pubmed / Medline and Scielo / Lilacs in the period from 2002 to 2012. Also consulted was the IB-ICT (Brazilian digital library of theses and Masters), with descriptors in Portuguese and English for "Systemic sclerosis", "Rheumatoid Arthritis", " Systemic Lupus Erythematosus" and "Sjögren's syndrome", correlating each one with the descriptor AND "neoplasms". The results showed that in the database IBICT a thesis and a dissertation for the descriptor SLE met the inclusion criteria, none met RA one thesis to SS. Lilacs in the database/Scielo found two articles on "Rheumatoid Arthritis" AND "neoplasms". In Pubmed/Medline the inicial search resulted in 118 articles, and 41 were selected. The review noted the relationship between cancer and autoimmune rheumatic diseases, as well as a risk factor for protection, although the pathophysiological mechanisms are not known.


Subject(s)
Humans , Autoimmune Diseases/complications , Neoplasms/epidemiology , Neoplasms/etiology , Rheumatic Diseases/complications , Rheumatic Diseases/immunology , Arthritis, Rheumatoid/complications , Autoimmune Diseases/epidemiology , Incidence , Lupus Erythematosus, Systemic/complications , Prevalence , Rheumatic Diseases/epidemiology , Sjogren's Syndrome/complications
17.
Einstein (Säo Paulo) ; 12(1): 36-41, Jan-Mar/2014. graf
Article in English | LILACS | ID: lil-705787

ABSTRACT

Objective : To report the experience in three Brazilian institutions with the use of rituximab in patients with different clinical forms of lupus erythematosus systemic in activity. Methods : The study consisted of a sample of 17 patients with LES, who were already being treated, but that at some stage of the disease showed refractory symptoms. The patients were subdivided into groups according to the clinical manifestation, and the responses for the use of rituximab were rated as complete, partial or no response. Data were collected through a spreadsheet, and used specific parameters for each group. The treatment was carried on by using therapeutic dose of 1g, and repeating the infusion within an interval of 15 days. Results : The clinical responses to rituximab of the group only hematological and of the group only osteoarticular were complete in all cases. In the renal group there was a clinical complete response, two partial and one absent. In the renal and hematological group complete response, there was one death and a missing response. The pulmonary group presented a complete response and two partial. Conclusion : The present study demonstrated that rituximab can bring benefits to patients with lupus erythematosus systemic, with good tolerability and mild side effects; it presented, however, variable response according to the system affected. .


Objetivo : Relatar a experiência obtida em três instituições brasileiras com o uso do rituximabe em pacientes com diferentes formas clínicas de lúpus eritematoso sistêmico em atividade. Métodos : Estudo composto por amostra de 17 pacientes portadores de lúpus, que já faziam tratamento, mas que, em algum momento da evolução da doença, apresentaram sintomas refratários. Os pacientes foram subdivididos em grupos de acordo com o acometimento clínico que motivou o uso do imunobiológico, e a resposta ao uso do rituximabe foi classificada como completa, parcial ou ausente. Os dados foram coletados por meio de uma planilha padronizada, sendo utilizados parâmetros específicos para cada grupo. O tratamento foi padronizado com dose terapêutica de 1g, com repetição da infusão em um intervalo de 15 dias. Resultados : As respostas clínicas ao rituximabe dos grupos apenas hematológico e do apenas osteoarticular foi completa em todos os casos. No grupo renal, houve uma resposta clínica completa, duas parciais e uma ausente. No grupo renal e hematológico, houve uma resposta completa, um óbito e uma resposta ausente. O grupo pulmonar apresentou um caso de resposta clínica completa e dois parciais. Conclusão : O presente estudo demonstrou que rituximabe pode trazer benefícios aos pacientes com lúpus eritematoso sistêmico, com tolerabilidade boa e efeitos colaterais brandos, apresentando, contudo, resposta variável, de acordo com o sistema acometido. .


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Antibodies, Monoclonal, Murine-Derived/therapeutic use , Immunologic Factors/therapeutic use , Lupus Erythematosus, Systemic/drug therapy , Brazil , Dose-Response Relationship, Drug , Lung Diseases/drug therapy , Lung Diseases/etiology , Lupus Erythematosus, Systemic/complications , Retrospective Studies , Time Factors , Treatment Outcome
18.
Acta Gastroenterol Latinoam ; 42(4): 325-8, 2012 Dec.
Article in Spanish | MEDLINE | ID: mdl-23383527

ABSTRACT

Infliximab is an anti-TNF alpha and it has been used to treat ulcerative colitis refractory to other treatments since 2006, which is associated to quick induction and sustained remission of disease, as well as improvement of health related-quality of life. The most frequent adverse effects are formation of antibodies against anti-TNF alpha, acute allergic reactions, hypersensitivity reactions, lymphoproliferative diseases, susceptibility to infections, reactivation of latent extrapulmonary tuberculosis. We describe a case of psoriasis induced by anti-TNF, rarely described in literature. So we conducted a review on the mechanisms involved in this process, since this drug is also used in primary treatment of psoriasis.


Subject(s)
Antibodies, Monoclonal/adverse effects , Psoriasis/chemically induced , Tumor Necrosis Factor-alpha/antagonists & inhibitors , Adult , Colitis, Ulcerative/drug therapy , Humans , Infliximab , Male
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