Guillain-Barré syndrome (GBS) is a rare, but potentially fatal, immune-mediated disease of the peripheral nerves and nerve roots that is usually triggered by infections. The incidence of GBS can ...therefore increase during outbreaks of infectious diseases, as was seen during the Zika virus epidemics in 2013 in French Polynesia and 2015 in Latin America. Diagnosis and management of GBS can be complicated as its clinical presentation and disease course are heterogeneous, and no international clinical guidelines are currently available. To support clinicians, especially in the context of an outbreak, we have developed a globally applicable guideline for the diagnosis and management of GBS. The guideline is based on current literature and expert consensus, and has a ten-step structure to facilitate its use in clinical practice. We first provide an introduction to the diagnostic criteria, clinical variants and differential diagnoses of GBS. The ten steps then cover early recognition and diagnosis of GBS, admission to the intensive care unit, treatment indication and selection, monitoring and treatment of disease progression, prediction of clinical course and outcome, and management of complications and sequelae.
Objective
The Erasmus Guillain Barre Outcome Score (EGOS) is a prognostic model that predicts the chance of being able to walk independently at 6 months after Guillain Barré syndrome (GBS). This ...study was conducted aiming to determine the validity of EGOS in a Brazilian population.
Material and Methods
Data collected from GBS patients in Rio Grande do Norte, Brazil, were used to determine the validity of EGOS. GBS disability score was assessed in the second week of disease and at 6 months.
Results
A total of 206 subjects were studied. The Brazilian patients were younger, with a more severe clinical presentation, with higher percentage of cranial nerve involvement and upper respiratory infection. There was no difference relative to sex or presence of anti‐gangliosides antibodies. The demyelinating variant was more common (73.9%). However, only 24% of the Brazilians with EGOS 5.5‐7 were not able to walk after 6 months, compared to 52% to European Group. Nine patients (3.8%) presented nodopathies, of these four had an EGOS >5, but only one of the latter group was unable to walk after 6 months of GBS.
Conclusions
Erasmus Guillain Barre Outcome Score was not a good predictor for the ability to walk after 6 months of GBS in Rio Grande do Norte, Brazil. Differences could be that the Brazilian GBS were younger, or alternatively, it could be due to a different infection profile or in the incidence of nodopathies.
Background
Neuromuscular diseases (NMDs) are a heterogeneous group of diseases affecting the anterior horn cell of spinal cord, neuromuscular junction, peripheral nerves and muscles. NMDs cause ...physical disability usually due to progressive loss of strength in limb muscles, and some NMDs also cause respiratory muscle weakness. Respiratory muscle training (RMT) might be expected to improve respiratory muscle weakness; however, the effects of RMT are still uncertain. This systematic review will synthesize the available trial evidence on the effectiveness and safety of RMT in people with NMD, to inform clinical practice.
Objectives
To assess the effects of respiratory muscle training (RMT) for neuromuscular disease (NMD) in adults and children, in comparison to sham training, no training, standard treatment, breathing exercises, or other intensities or types of RMT.
Search methods
On 19 November 2018, we searched the Cochrane Neuromuscular Specialized Register, the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, and Embase. On 23 December 2018, we searched the US National Institutes for Health Clinical Trials Registry (ClinicalTrials.gov), the World Health Organization International Clinical Trials Registry Platform, and reference lists of the included studies.
Selection criteria
We included randomized controlled trials (RCTs) and quasi‐RCTs, including cross‐over trials, of RMT in adults and children with a diagnosis of NMD of any degree of severity, who were living in the community, and who did not need mechanical ventilation. We compared trials of RMT (inspiratory muscle training (IMT) or expiratory muscle training (EMT), or both), with sham training, no training, standard treatment, different intensities of RMT, different types of RMT, or breathing exercises.
Data collection and analysis
We followed standard Cochrane methodological procedures.
Main results
We included 11 studies involving 250 randomized participants with NMDs: three trials (N = 88) in people with amyotrophic lateral sclerosis (ALS; motor neuron disease), six trials (N = 112) in Duchenne muscular dystrophy (DMD), one trial (N = 23) in people with Becker muscular dystrophy (BMD) or limb‐girdle muscular dystrophy, and one trial (N = 27) in people with myasthenia gravis.
Nine of the trials were at high risk of bias in at least one domain and many reported insufficient information for accurate assessment of the risk of bias. Populations, interventions, control interventions, and outcome measures were often different, which largely ruled out meta‐analysis. All included studies assessed lung capacity, our primary outcome, but four did not provide data for analysis (1 in people with ALS and three cross‐over studies in DMD). None provided long‐term data (over a year) and only one trial, in ALS, provided information on adverse events. Unscheduled hospitalisations for chest infection or acute exacerbation of chronic respiratory failure were not reported and physical function and quality of life were reported in one (ALS) trial.
Amyotrophic lateral sclerosis (ALS)
Three trials compared RMT versus sham training in ALS. Short‐term (8 weeks) effects of RMT on lung capacity in ALS showed no clear difference in the change of the per cent predicted forced vital capacity (FVC%) between EMT and sham EMT groups (mean difference (MD) 0.70, 95% confidence interval (CI) ‐8.48 to 9.88; N = 46; low‐certainty evidence). The mean difference (MD) in FVC% after four months' treatment was 10.86% in favour of IMT (95% CI ‐4.25 to 25.97; 1 trial, N = 24; low‐certainty evidence), which is larger than the minimal clinically important difference (MCID, as estimated in people with idiopathic pulmonary fibrosis). There was no clear difference between IMT and sham IMT groups, measured on the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALFRS; range of possible scores 0 = best to 40 = worst) (MD 0.85, 95% CI ‐2.16 to 3.85; 1 trial, N = 24; low‐certainty evidence) or quality of life, measured on the EuroQol‐5D (0 = worst to 100 = best) (MD 0.77, 95% CI ‐17.09 to 18.62; 1 trial, N = 24; low‐certainty evidence) over the medium term (4 months). One trial report stated that the IMT protocol had no adverse effect (very low‐certainty evidence).
Duchenne muscular dystrophy (DMD)
Two DMD trials compared RMT versus sham training in young males with DMD. In one study, the mean post‐intervention (6‐week) total lung capacity (TLC) favoured RMT (MD 0.45 L, 95% CI ‐0.24 to 1.14; 1 trial, N = 16; low‐certainty evidence). In the other trial there was no clear difference in post‐intervention (18 days) FVC between RMT and sham RMT (MD 0.16 L, 95% CI ‐0.31 to 0.63; 1 trial, N = 20; low‐certainty evidence). One RCT and three cross‐over trials compared a form of RMT with no training in males with DMD; the cross‐over trials did not provide suitable data. Post‐intervention (6‐month) values showed no clear difference between the RMT and no training groups in per cent predicted vital capacity (VC%) (MD 3.50, 95% CI ‐14.35 to 21.35; 1 trial, N = 30; low‐certainty evidence).
Becker or limb‐girdle muscular dystrophy
One RCT (N = 21) compared 12 weeks of IMT with breathing exercises in people with Becker or limb‐girdle muscular dystrophy. The evidence was of very low certainty and conclusions could not be drawn.
Myasthenia gravis
In myasthenia gravis, there may be no clear difference between RMT and breathing exercises on measures of lung capacity, in the short term (TLC MD ‐0.20 L, 95% CI ‐1.07 to 0.67; 1 trial, N = 27; low‐certainty evidence). Effects of RMT on quality of life are uncertain (1 trial; N = 27).
Some trials reported effects of RMT on inspiratory and/or expiratory muscle strength; this evidence was also of low or very low certainty.
Authors' conclusions
RMT may improve lung capacity and respiratory muscle strength in some NMDs. In ALS there may not be any clinically meaningful effect of RMT on physical functioning or quality of life and it is uncertain whether it causes adverse effects. Due to clinical heterogeneity between the trials and the small number of participants included in the analysis, together with the risk of bias, these results must be interpreted very cautiously.
Amyotrophic Lateral Sclerosis (ALS) is a complex and rare neurodegenerative disease given its heterogeneity. Despite being known for many years, few countries have accurate information about the ...characteristics of people diagnosed with ALS, such as data regarding diagnosis and clinical features of the disease. In Brazil, the lack of information about ALS limits data for the research progress and public policy development that benefits people affected by this health condition. In this context, this article aims to show a digital health solution development and application for research, intervention, and strengthening of the response to ALS in the Brazilian Health System. The proposed solution is composed of two platforms: the Brazilian National ALS Registry, responsible for the data collection in a structured way from ALS patients all over Brazil; and the Brazilian National ALS Observatory, responsible for processing the data collected in the National Registry and for providing a monitoring room with indicators on people diagnosed with ALS in Brazil. The development of this solution was supported by the Brazilian Ministry of Health (MoH) and was carried out by a multidisciplinary team with expertise in ALS. This solution represents a tool with great potential for strengthening public policies and stands out for being the only public database on the disease, besides containing innovations that allow data collection by health professionals and/or patients. By using both platforms, it is believed that it will be possible to understand the demographic and epidemiological data of ALS in Brazil, since the data will be able to be analyzed by care teams and also by public health managers, both in the individual and collective monitoring of people living with ALS in Brazil.
Amyotrophic Lateral Sclerosis is a disease that compromises the motor system and the functional abilities of the person in an irreversible way, causing the progressive loss of the ability to ...communicate. Tools based on Augmentative and Alternative Communication are essential for promoting autonomy and improving communication, life quality, and survival. This Systematic Literature Review aimed to provide evidence on eye-image-based Human–Computer Interaction approaches for the Augmentative and Alternative Communication of people with Amyotrophic Lateral Sclerosis. The Systematic Literature Review was conducted and guided following a protocol consisting of search questions, inclusion and exclusion criteria, and quality assessment, to select primary studies published between 2010 and 2021 in six repositories: Science Direct, Web of Science, Springer, IEEE Xplore, ACM Digital Library, and PubMed. After the screening, 25 primary studies were evaluated. These studies showcased four low-cost, non-invasive Human–Computer Interaction strategies employed for Augmentative and Alternative Communication in people with Amyotrophic Lateral Sclerosis. The strategies included Eye-Gaze, which featured in 36% of the studies; Eye-Blink and Eye-Tracking, each accounting for 28% of the approaches; and the Hybrid strategy, employed in 8% of the studies. For these approaches, several computational techniques were identified. For a better understanding, a workflow containing the development phases and the respective methods used by each strategy was generated. The results indicate the possibility and feasibility of developing Human–Computer Interaction resources based on eye images for Augmentative and Alternative Communication in a control group. The absence of experimental testing in people with Amyotrophic Lateral Sclerosis reiterates the challenges related to the scalability, efficiency, and usability of these technologies for people with the disease. Although challenges still exist, the findings represent important advances in the fields of health sciences and technology, promoting a promising future with possibilities for better life quality.
Neuromuscular diseases (NMDs) lead to different weakness patterns, and most patients with NMDs develop respiratory failure. Inspiratory and expiratory muscle strength can be measured by maximum ...static inspiratory pressure (PImax) and maximum static expiratory pressure (PEmax), and the relationship between them has not been well described in healthy subjects and subjects with NMDs. Our aim was to assess expiratory/inspiratory muscle strength in NMDs and healthy subjects and calculate PEmax/PImax ratio for these groups.
Seventy (35 males) subjects with NMDs (amyotrophic lateral sclerosis, myasthenia gravis, and myotonic dystrophy), and 93 (47 males) healthy individuals 20-80 y of age were evaluated for anthropometry, pulmonary function, PImax, and PEmax, respectively.
Healthy individuals showed greater values for PImax and PEmax when compared with subjects with NMDs. PEmax/PImax ratio for healthy subjects was 1.31 ± 0.26, and PEmax%/PImax% was 1.04 ± 0.05; for subjects with NMDs, PEmax/PImax ratio was 1.45 ± 0.65, and PEmax%/PImax% ratio was 1.42 ± 0.67. We found that PEmax%/PImax% for myotonic dystrophy was 0.93 ± 0.24, for myasthenia gravis 1.94 ± 0.6, and for amyotrophic lateral sclerosis 1.33 ± 0.62 when we analyzed them separately. All healthy individuals showed higher PEmax compared with PImax. For subjects with NMDs, the impairment of PEmax and PImax is different among the 3 pathologies studied (P < .001).
Healthy individuals and subjects with NMDs showed higher PEmax in comparison to PImax regarding the PEmax/PImax ratio. Based on the ratio, it is possible to state that NMDs show different patterns of respiratory muscle strength loss. PEmax/PImax ratio is a useful parameter to assess the impairment of respiratory muscles in a patient and to customize rehabilitation and treatment.
We performed a cross-sectional study of stroke type frequency at a local emergency hospital, in Natal, Brazil. The sample consisted of all patients who were admitted to an emergency hospital with a ...presumptive diagnosis of stroke. Of the 416 patients, 328 were studied, 88 were excluded for not meeting inclusion criteria, 74.7% (n= 245) had ischemic stroke 17.7% (n=58) had intracerebral hemorrhage, 7.6% (n=25) had subarachnoid hemorrhage; 173 were men (52.7%). Mean age was 64.1 years. The intrahospital mortality rate was 10.2%, 17.2% and 36% for ischemic stroke, intracerebral hemorrhage and subarachnoid hemorrhage, respectively. The most prevalent modifiable risk factor was hypertension for ischemic stroke (67.6%) and hemorrhage stroke (57.8%). Logistic regression analysis identified diabetes (OR=3.70; CI=1.76-7.77) as independent risk factor for ischemic stroke. The ischemic stroke was most common type of stroke. Hypertension and diabetes were important risk factors for stroke.
Objective
ANO5‐related myopathy is an important cause of limb‐girdle muscular dystrophy (LGMD) and hyperCKemia. The main descriptions have emerged from European cohorts, and the burden of the disease ...worldwide is unclear. We provide a detailed characterization of a large Brazilian cohort of ANO5 patients.
Methods
A national cross‐sectional study was conducted to describe clinical, histopathological, radiological, and molecular features of patients carrying recessive variants in ANO5. Correlation of clinical and genetic characteristics with different phenotypes was studied.
Results
Thirty‐seven patients from 34 nonrelated families with recessive mutations of ANO5 were identified. The most common phenotype was LGMD, observed in 25 (67.5%) patients, followed by pseudometabolic presentation in 7 (18.9%) patients, isolated asymptomatic hyperCKemia in 4 (10.8%) patients, and distal myopathy in a single patient. Nine patients presented axial involvement, including one patient with isolated axial weakness. The most affected muscles according to MRI were the semimembranosus and gastrocnemius, but paraspinal and abdominal muscles, when studied, were involved in most patients. Fourteen variants in ANO5 were identified, and the c.191dupA was present in 19 (56%) families. Sex, years of disease, and the presence of loss‐of‐function variants were not associated with specific phenotypes.
Interpretation
We present the largest series of anoctaminopathy outside Europe. The most common European founder mutation c.191dupA was very frequent in our population. Gender, disease duration, and genotype did not determine the phenotype.
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