Noninvasive mechanical ventilation assistance in amyotrophic lateral sclerosis: a systematic review

ABSTRACT BACKGROUND: Respiratory failure is the most common cause of death in patients with amyotrophic lateral sclerosis (ALS), and morbidity is related to poor quality of life (QOL). Non-invasive ventilation (NIV) may be associated with prolonged survival and QOL in patients with ALS. OBJECTIVES: To assess whether NIV is effective and safe for patients with ALS in terms of survival and QOL, alerting the health system. DESIGN AND SETTING: Systematic review was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses reporting standards using population, intervention, comparison, and outcome strategies. METHODS: The Cochrane Library, CENTRAL, MEDLINE, LILACS, EMBASE, and CRD databases were searched based on the eligibility criteria for all types of studies on NIV use in patients with ALS published up to January 2022. Data were extracted from the included studies, and the findings were presented using a narrative synthesis. RESULTS: Of the 120 papers identified, only 14 were related to systematic reviews. After thorough reading, only one meta-analysis was considered eligible. In the second stage, 248 studies were included; however, only one systematic review was included. The results demonstrated that NIV provided relief from the symptoms of chronic hypoventilation, increased survival, and improved QOL compared to standard care. These results varied according to clinical phenotype. CONCLUSIONS: NIV in patients with ALS improves the outcome and can delay the indication for tracheostomy, reducing expenditure on hospitalization and occupancy of intensive care unit beds. SYSTEMATIC REVIEW REGISTRATION: PROSPERO database: CRD42021279910 — https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=279910.

Evaluation of clinical, epidemiological and electrophysiological variables for early diagnosis of amyotrophic lateral sclerosis / Avaliação de variáveis clínicas, epidemiológicas e eletrofisiológicas para diagnóstico precoce da esclerose lateral amiotrófica

Motor neuron disease (MND) is a systemic disease with a broad clinical spectrum. It is characterized by primary involvement of the lower or upper motor neuron (UMN), or both, simultaneously, represented by the most common form, amyotrophic lateral sclerosis (ALS). ALS is rapidly progressive and fatal disease that evolve to death due to respiratory failure, on average, in three to five years since the onset of symptoms. This fact attends to the early and correct diagnosis of the disease. OBJECTIVE: To evaluate clinical, epidemiological and electrophysiological variables for the early diagnosis of ALS. METHODS: This is an observational, descriptive and retrospective study, conducted from the collect of the database, in which the variables were submitted to statistical analysis: Mann-Whitney test and Fisher's exact test. RESULTS: When correlating clinical, epidemiological and electrophysiological findings of patients with ALS and other forms of MND, the variables: age of onset of symptoms (P=0,02) hyperreflexia (P=0,001), presence of bulbar symptoms/signs (P<0,001), pathological reflexes (P=0.001), and presence of fasciculation in electromyography (P=0,001) presented statistical significance for the diagnosis of ALS. CONCLUSION: Despite the small sample size, the findings reinforce the importance of well- done neurological examination, to search for signs of involvement of the UMN, in the first evaluation of patients with suspected MND. And that more research is needed to better understand the different phenotypes of the disease in order to obtain an increasingly early diagnosis to offer improvements in the quality of life of these patients

A doença do neurônio motor (DNM) é uma doença sistêmica com amplo espectro clínico. É caracterizada pelo envolvimento primário do neurônio motor inferior ou superior (NMS), ou ambos, simultaneamente, representados pela forma mais comum de esclerose lateral amiotrófica (ELA). A ELA é uma doença rapidamente progressiva e fatal que evolui para óbito devido à insuficiência respiratória, em média, em três a cinco anos desde o início dos sintomas. Esse fato atenta ao diagnóstico precoce e correto da doença. OBJETIVO: Avaliar variáveis clínicas, epidemiológicas e eletrofisiológicas para o diagnóstico precoce de ELA. MÉTODOS: Estudo observacional, descritivo e retrospectivo, realizado a partir da coleta do banco de dados, no qual as variáveis foram submetidas a análises estatísticas: teste de Mann-Whitney e teste exato de Fisher. RESULTADOS: Ao correlacionar achados clínicos, epidemiológicos e eletrofisiológicos de pacientes com ELA e outras formas de DNM, as variáveis: idade de início dos sintomas (P=0,02) hiperreflexia (P=0,001), presença de sintomas/sinais bulbares (P<0,001), reflexos patológicos (P=0,001) e presença de fasciculação na eletromiografia (P=0,001) apresentaram significância estatística para o diagnóstico de ELA. CONCLUSÃO: Apesar do pequeno tamanho da amostra, os achados reforçam a importância do exame neurológico bem feito, na busca de sinais de envolvimento da NMS, na primeira avaliação de pacientes com suspeita de DMN. E que são necessárias mais pesquisas para melhor entendimento dos diferentes fenótipos da doença, a fim de obter um diagnóstico cada vez mais precoce para oferecer melhorias na qualidade de vida desses pacientes

Amyotropic lateral sclerosis as a para-neoplastic manifestation of gastric adenocarcinoma - A rare case report.

Motor neuron diseases (MND) have been reported as a rare paraneoplastic syndrome of a systemic neoplasm. Amyotrophic Lateral Sclerosis as a paraneoplastic manifestation of gastric carcinoma is even rarer. We present a patient with amyotrophic lateral sclerosis (ALS) in association with adenocarcinoma of stomach. A 48year old man presented with a four months history of progressive dysphagia, spastic dysarthria and marked fasciculation in his atrophic tongue. Gag reflexes were diminished bilaterally. There was significant atrophy in thenar and hypothenar areas of both hands and dorsum of both feet. Electromyography result was compatible with diffuse motor neuropathy with active denervation. MRI brain showed classical findings of ALS. Upper GI endoscopic study showed ulcerated mucosa in body of stomach. Histological biopsy of stomach confirmed the presence of adenocarcinoma. The importance of considering a paraneoplastic syndrome in a patient with presentation of ALS is that it can lead to searching for underlying neoplasm before its apparent signs and symptoms develop and a scope to initiate treatment for primary carcinoma. Again treating the underlying neoplasm may halt or even resolve the neurologic signs and symptoms.

Man-in-the-barrel syndrome, a symmetrical proximal brachial amyotrophic diplegia related to motor neuron diseases: a survey of nine cases / Síndrome do homem no barril, uma diplegia amiotrófica braquial proximal simétrica relacionada a doença do neurônio motor: a propósito de nove casos

OBJECTIVE: To report on 9 patients presenting with sporadic motor neuron disease , who over a long period of time evolved with a symmetrical proximal brachial amyotrophic diplegia. METHODS: Nine patients were followed-up who , displayed, since onset, a progressive limitation of arm flexion/abduction resulting in a peculiar posture with both hands hanging loosely beside the trunk. Electrophysiological test results were consistent with lower motor neuron disease. Cervical MRI was performed in all patients. RESULTS: Nine male subjects with ages ranging from 38 to 73 years at onset of symptoms, developed bilateral and symmetric paresis and atrophy of upper limb muscles. Proximal muscles were more involved than the distal groups. In most patients tendon reflexes were absent or hypoactive in the upper limbs. Needle electromyography (EMG) revealed positive sharp waves and fibrillations and high amplitude polyphasic potentials with an incomplete recruitment pattern in most upper limb muscles. EMG of lower limb muscles was normal in some cases while abnormal in others. MRC did not disclose cervical spinal cord abnormalities from C5-T1. CONCLUSION: Attention is called to the Man-in-the-Barrel syndrome in some motor neuron diseases, especially in patients with progressive spinal atrophy and amyotrophic lateral sclerosis.

OBJETIVO: Relatar nove pacientes com a doença do neurônio de motor esporádica que apresentam progressiva e simétrica diplegia braquial amiotrófica. MÉTODOS: Acompanhamos nove pacientes que exibiram, desde o começo, uma limitação progressiva de flexão/abdução do membro superior resultando em uma postura peculiar com ambas as mãos pendentes ao longo do tronco. Os resultados dos testes eletrofisiológicos foram consistentes com achados de doença do neurônio motor inferior. Ressonância magnética (RM) cervical foi realizada em todos pacientes. RESULTADOS: Nove pacientes do sexo masculino com idades entre 38-73 anos no início dos sintomas desenvolveram paresia e a atrofia bilateral simétrica dos músculos dos membros superiores. Os músculos proximais foram mais comprometidos do que os distais. Os reflexos tendíneos dos membros superiores encontravam-se abolidos ou hipoativos na maioria dos pacientes. A eletromiografia (EMG) revelou ondas positivas, fibrilações e potenciais polifásicos de alta amplitude com padrão incompleto de recrutamento na maioria dos músculos dos membros superiores. A EMG dos membros inferiores foi normal em alguns casos e anormal em outros. A RM não evidenciou anormalidades da medula espinhal cervical de C5-T1. CONCLUSÃO: Atentamos para a síndrome do homem do Barril em algumas doenças do neurônio de motor, especialmente na atrofia espinhal progressiva e esclerose lateral amiotrófica.