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 â¼ 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.
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 â¼ 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.
Subject(s)
Amyloid Neuropathies, Familial , Polyneuropathies , Humans , Brazil , Consensus , Amyloid Neuropathies, Familial/diagnosis , Amyloid Neuropathies, Familial/genetics , Amyloid Neuropathies, Familial/therapyABSTRACT
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.
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.
ABSTRACT
Objective The aim of this study was to obtain data on phrenic neuroconduction and electromyography of the diaphragm muscle in difficult-to-treat asthmatic patients and compare the results to those obtained in controls. Methods The study consisted of 20 difficult-to-treat asthmatic patients compared with 27 controls. Spirometry, maximal inspiratory and expiratory pressure, chest X-ray, phrenic neuroconduction and diaphragm electromyography data were obtained. Results The phrenic compound motor action potential area was reduced, compared with controls, and all the patients had normal diaphragm electromyography. Conclusion It is possible that a reduced phrenic compound motor action potential area, without electromyography abnormalities, could be related to diaphragm muscle fiber abnormalities due to overload activity.
Subject(s)
Asthma/physiopathology , Neural Conduction/physiology , Phrenic Nerve/physiopathology , Action Potentials/physiology , Adult , Age Factors , Aged , Asthma/diagnostic imaging , Case-Control Studies , Diaphragm/physiopathology , Electromyography/methods , Female , Humans , Male , Middle Aged , Phrenic Nerve/diagnostic imaging , Pulmonary Disease, Chronic Obstructive/physiopathology , Radiography, Thoracic , Reference Values , Respiratory Function Tests/methods , Statistics, Nonparametric , Young AdultABSTRACT
Neural pain is a frequent symptom in leprosy disease. There is a paucity of data regarding neural pain diagnostics resulting in common prescriptive errors when neuritis is confused with neuropathic or mixed nociceptive-neuropathic pain. The present study identified important demographic, clinical, and neurophysiological features of 42 leprosy neuropathy patients presenting neuropathic pain (NP). During routine evaluations, patients were selected asking if they had ever experienced neural pain. Data analyses of their pain characteristics, clinical examination results, and both the Douleur Neuropathique 4 Questionnaire and Hamilton Depression Scale scores were used to classify these patients. The most common word they used to describe the sensation of pain for 25 (60%) of these patients was "burning." In the early stages of the disease and before leprosy diagnosis, 19 (45%) had already complained about NP and leprosy treatment was unable to prevent its occurrence in 15 (36%). Leprosy reactions, considered NP risk factors, occurred in 32 (76%) cases. Knowledge of typical NP characteristics could be used to develop more effective therapeutic approaches for a notoriously difficult-to-treat pain condition.
Subject(s)
Leprosy/complications , Neuralgia/physiopathology , Adult , Aged , Female , Humans , Leprosy/epidemiology , Leprosy/physiopathology , Leprosy, Multibacillary/complications , Leprosy, Multibacillary/epidemiology , Leprosy, Multibacillary/physiopathology , Male , Middle Aged , Motor Disorders/epidemiology , Motor Disorders/etiology , Neural Conduction/physiology , Neuralgia/epidemiology , Neuralgia/etiology , Pain , Pain Measurement , Sensation Disorders/epidemiology , Sensation Disorders/etiology , Young AdultABSTRACT
ABSTRACT Objective The aim of this study was to obtain data on phrenic neuroconduction and electromyography of the diaphragm muscle in difficult-to-treat asthmatic patients and compare the results to those obtained in controls. Methods The study consisted of 20 difficult-to-treat asthmatic patients compared with 27 controls. Spirometry, maximal inspiratory and expiratory pressure, chest X-ray, phrenic neuroconduction and diaphragm electromyography data were obtained. Results The phrenic compound motor action potential area was reduced, compared with controls, and all the patients had normal diaphragm electromyography. Conclusion It is possible that a reduced phrenic compound motor action potential area, without electromyography abnormalities, could be related to diaphragm muscle fiber abnormalities due to overload activity.
RESUMO Objetivo O objetivo do presente estudo foi obter dados da neurocondução do frênico e exame com agulha do diafragma em pacientes com asma de difícil controlee comparar com um grupo normal. Métodos O estudo consiste em realizar radiografia de tórax, espirometria, pressão máxima inspiratória e expiratória, neurocondução do nervo frênico e eletromiografia do músculo diafragma em 20 pacientes asmáticos de difícil controle e comparar com 27 controles. Resultados Encontramos redução da área do potencial de ação muscular composto do nervo frênico e a eletromiografia do musculo diafragma estava normal em todos os pacientes. Conclusão É possível que a redução da área do potencial de ação muscular composto do nervo frênico nos pacientes com asma de difícil controle associado a eletromiografia normal do músculo diafragma esteja relacionada as alterações da fibra muscular do mesmo devido à sobrecarga de atividade.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Young Adult , Phrenic Nerve/physiopathology , Asthma/physiopathology , Neural Conduction/physiology , Phrenic Nerve/diagnostic imaging , Reference Values , Respiratory Function Tests/methods , Asthma/diagnostic imaging , Action Potentials/physiology , Diaphragm/physiopathology , Radiography, Thoracic , Case-Control Studies , Age Factors , Statistics, Nonparametric , Pulmonary Disease, Chronic Obstructive/physiopathology , Electromyography/methodsABSTRACT
The authors proposed a systematic review on the current concepts of primary neural leprosy by consulting the following online databases: MEDLINE, Lilacs/SciELO, and Embase. Selected studies were classified based on the degree of recommendation and levels of scientific evidence according to the "Oxford Centre for Evidence-based Medicine". The following aspects were reviewed: cutaneous clinical and laboratorial investigations, i.e. skin clinical exam, smears, and biopsy, and Mitsuda's reaction; neurological investigation (anamnesis, electromyography and nerve biopsy); serological investigation and molecular testing, i.e. serological testing for the detection of the phenolic glycolipid 1 (PGL-I) and the polymerase chain reaction (PCR); and treatment (classification criteria for the definition of specific treatment, steroid treatment, and cure criteria).
Subject(s)
Leprosy, Tuberculoid/diagnosis , Leprosy, Tuberculoid/therapy , Biopsy/methods , Diagnosis, Differential , Evidence-Based Medicine , Humans , Leprosy, Tuberculoid/physiopathology , Neural Conduction/physiology , Neurons/pathology , Sensitivity and Specificity , Skin/pathologyABSTRACT
The authors proposed a systematic review on the current concepts of primary neural leprosy by consulting the following online databases: MEDLINE, Lilacs/SciELO, and Embase. Selected studies were classified based on the degree of recommendation and levels of scientific evidence according to the “Oxford Centre for Evidence-based Medicine”. The following aspects were reviewed: cutaneous clinical and laboratorial investigations, i.e. skin clinical exam, smears, and biopsy, and Mitsuda's reaction; neurological investigation (anamnesis, electromyography and nerve biopsy); serological investigation and molecular testing, i.e. serological testing for the detection of the phenolic glycolipid 1 (PGL-I) and the polymerase chain reaction (PCR); and treatment (classification criteria for the definition of specific treatment, steroid treatment, and cure criteria).
.Os autores propuseram-se a realizar uma revisão sistemática em conceitos atuais sobre a hanseníase neural primária, consultando as seguintes bases bibliográficas
Subject(s)
Humans , Leprosy, Tuberculoid/diagnosis , Leprosy, Tuberculoid/therapy , Biopsy/methods , Diagnosis, Differential , Evidence-Based Medicine , Leprosy, Tuberculoid/physiopathology , Neural Conduction/physiology , Neurons/pathology , Sensitivity and Specificity , Skin/pathologyABSTRACT
Forty-four patients with neuritic leprosy were individually followed for periods ranging from 4 months to almost 4 years for the purpose of ascertaining the presence and/ or absence of leprosy. The neural symptoms presented were sensory impairment (41), parasthesia (28), nerve enlargement (22), nerve tenderness (20), paresia (20), amyotrophy (8). Leprosy was diagnosed in ten out of the total number of patients studied. Leprosy was confirmed by the appearance of reactional neuritis (4), reversal reaction (2), biopsy of the hypoesthesic area (3) and the appearance of non-reactional cutaneous lesion. We reported an experience in the diagnosis of neuritic leprosy and its most frequent clinical presentation with which clinicians have to be acquainted. We can also state that the clinical follow-up was an effective strategy for the diagnosis of the disease when diagnostic facilities are not available or have not confirmed the diagnosis
Subject(s)
Humans , Female , Adult , Middle Aged , Leprosy/diagnosis , Neuritis/diagnosis , Peripheral Nervous System Diseases/complications , Follow-Up Studies , Leprosy/etiology , Neuritis/etiologyABSTRACT
Foram estudados 18 pacientes com hanseníase e comprometimento neurológico, classificados segundo critérios de Ridley e Jopling (1966). os pacientes foram distribuídos em dois grupos: o grupo I, incluia pacientes com comprometimento neurológico, em uso de corticosteróides por períodos variados; o grupo II, era constituido por pacientes que apresentavam déficit motor instalado em um período inferior a um ano e que não faziam uso de corticosteróides. Foram realizados exames neurológico e neurofisiológico antes, durante e após a administração de metilprednisolona intravenosa, em "pulsoterapia", por 6 meses. Para efeito de avaliaçãoda evolução dos pacientes foram consideradas a presença de dor espontânea, queixas de parestesia, espessamento neural, alterações da sensibilidade superficial, eritrocianose palmar e/ou plantar e comprometimento motor. Os resultados deste estudo revelaram a redução, em cerca de 50 porcento, na intensidade da dor no grupo I; o grupo II evoluiu sem dor ao final do estudo.
ABSTRACT
Foram estudados 18 pacientes com hanseníase e comprometimento neurológico, classificados segundo critérios de Ridley e Jopling (1966). os pacientes foram distribuídos em dois grupos: o grupo I, incluia pacientes com comprometimento neurológico, em uso de corticosteróides por períodos variados; o grupo II, era constituido por pacientes que apresentavam déficit motor instalado em um período inferior a um ano e que não faziam uso de corticosteróides. Foram realizados exames neurológico e neurofisiológico antes, durante e após a administração de metilprednisolona intravenosa, em "pulsoterapia", por 6 meses. Para efeito de avaliaçãoda evolução dos pacientes foram consideradas a presença de dor espontânea, queixas de parestesia, espessamento neural, alterações da sensibilidade superficial, eritrocianose palmar e/ou plantar e comprometimento motor. Os resultados deste estudo revelaram a redução, em cerca de 50 porcento, na intensidade da dor no grupo I; o grupo II evoluiu sem dor ao final do estudo.
