Effect of Zinc Supplementation on Body Composition of Duchenne Muscular Dystrophy Patients: A Quasi-Experimental Study.

Background: The study hypothesized that zinc supplementation would increase or preserve lean body mass in Duchenne muscular dystrophy (DMD) patients. Therefore, we aimed to evaluate the body composition of DMD patients before and after zinc supplementation.

Materials And Methods: The study is a clinical trial comprising 21 boys diagnosed with DMD.

The sural-sparing pattern in clinical variants and electrophysiological subtypes of Guillain-Barré syndrome.

Background:  Guillain-Barré syndrome (GBS) is the most common cause of acute flaccid paralysis worldwide and can be classified into electrophysiological subtypes and clinical variants.

Objective:  This study aimed to compare the frequency of the sural-sparing pattern (SSP) in subtypes and variants of GBS.

Methods:  This retrospective cohort study analyzed clinical and electrophysiological data of 171 patients with GBS hospitalized in public and private hospitals of Natal, Rio Grande do Norte, Brazil, between 1994 and 2018; all cases were followed up by the same neurologist in a reference neurology center.

Assessment of the Clinical and Functional Health Status of Patients with Amyotrophic Lateral Sclerosis during the COVID-19 Pandemic in Brazil Using Telemedicine.

This study aimed to monitor the clinical and functional progression of patients with amyotrophic lateral sclerosis (ALS) and adjust ventilatory support during the COVID-19 pandemic in Brazil using telemedicine. This longitudinal case series included five evaluations from January 2019 to June 2021. The first and second assessments were performed in person and consisted of pulmonary function, respiratory muscle strength, functionality (ALS Functional Rating Scale-Revised [ALSFRS-R]) and disease staging (King's College criteria).

Neurological and vestibular findings in three cases of Multiple Sclerosis.

Multiple sclerosis (MS) is a chronic and inflammatory autoimmune disease that affects the central nervous system (CNS). Dysfunction of body balance is also a common symptom and may be related to neurological injuries resulting from this disease. The aim of this study was to characterize the neurological and vestibular findings of three clinical cases diagnosed with MS.

Digital health solution for monitoring and surveillance of Amyotrophic Lateral Sclerosis in Brazil.

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.

Digital Alternative Communication for Individuals with Amyotrophic Lateral Sclerosis: What We Have.

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.

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

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.

Telehealth for amyotrophic lateral sclerosis in a multidisciplinary service in a Brazilian reference center.

Background: Telehealth has been used in the treatment of different diseases, and it has been shown to provide benefits for patients with amyotrophic lateral sclerosis (ALS). Due to the social distancing measures put into effect during the coronavirus disease 2019 (COVID-19) pandemic, there was an urgent need for telehealth to ensure the provision of healthcare.

Objective: To evaluate the feasibility of telehealth for the provision of multidisciplinary ALS care, and to assess its acceptability among patients and caregivers.

Cytomegalovirus infection in Guillain-Barré syndrome: a retrospective study in Brazil.

Background: Guillain-Barré syndrome (GBS) is currently the most common cause of acute flaccid paralysis worldwide. Risk factors for GBS include previous viral or bacterial infections or vaccination. Recently, an outbreak of Zika virus led to an outbreak of GBS in Latin America, mostly in Brazil, concomitant to continuous circulation of dengue virus serotypes.

National registry for amyotrophic lateral sclerosis: a systematic review for structuring population registries of motor neuron diseases.

Background: This article comprises a systematic review of the literature that aims at researching and analyzing the frequently applied guidelines for structuring national databases of epidemiological surveillance for motor neuron diseases, especially Amyotrophic Lateral Sclerosis (ALS).

Methods: We searched for articles published from January 2015 to September 2019 on online databases as PubMed - U.S.

Biomedical signals and machine learning in amyotrophic lateral sclerosis: a systematic review.

Introduction: The use of machine learning (ML) techniques in healthcare encompasses an emerging concept that envisages vast contributions to the tackling of rare diseases. In this scenario, amyotrophic lateral sclerosis (ALS) involves complexities that are yet not demystified. In ALS, the biomedical signals present themselves as potential biomarkers that, when used in tandem with smart algorithms, can be useful to applications within the context of the disease.

Thoracoabdominal asynchrony and paradoxical motion in Duchenne muscular dystrophy and healthy subjects during cough: A case control study.

Objective: To assess thoracoabdominal asynchrony (TAA) and inspiratory paradoxical motion at different positionings in subjects with Duchenne muscular dystrophy (DMD) versus healthy subjects during quiet spontaneous breathing (QB) and cough.

Methods: This is a case control study with a matched-pair design. We assessed 14 DMD subjects and 12 controls using optoelectronic plethysmography (OEP) during QB and spontaneous cough in 3 positions: supine, supine with headrest raised at 45°, and sitting with back support at 80°.

Effects of an optimised approach to home-based respiratory care in individuals with amyotrophic lateral sclerosis: a study protocol for a randomised controlled trial.

Introduction: This study aims to investigate the effects of an optimal home-based respiratory care protocol in individuals with amyotrophic lateral sclerosis (ALS).

Methods And Analysis: This is a randomised, blinded controlled trial involving patients diagnosed with ALS, both sexes, age between 18 and 80 years. Patients will be randomly allocated into the conventional respiratory care (CRC) group and the optimised respiratory care home-based (ORC) group.

Coping strategies among amyotrophic lateral sclerosis (ALS) patients: an integrative review.

Objective: To identify coping strategies used by amyotrophic lateral sclerosis (ALS) patients.

Methods: Integrative literature review using the Virtual Health Library, MEDLINE, and ScienceDirect databases.

Results: Eighteen studies were included.

Validity of bioelectrical impedance to estimate fat-free mass in boys with Duchenne muscular dystrophy.

The evaluation of fat-free mass (FFM) in patients with Duchenne muscular dystrophy (DMD) is useful to investigate disease progression and therapeutic efficacy. This study aimed to validate the Bioelectrical impedance (BIA) method compared with the dual-energy X-ray absorptiometry (DXA) for estimating the %FFM in boys with DMD. This is a cross-sectional study performed with children and adolescents diagnosed with DMD.

Effects of Positioning on Cough Peak Flow and Muscular Electromyographic Activation in Duchenne Muscular Dystrophy.

Background: Advanced stages of Duchenne muscular dystrophy (DMD) result in muscle weakness and the inability to generate an effective cough. Several factors influence the effectiveness of cough in patients with DMD. The aim of this study was to assess whether differences in positioning affect cough peak flow (CPF) and muscular electromyographic activation in subjects with DMD compared with paired healthy subjects.

Respiratory muscle training in children and adults with neuromuscular disease.

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.

Clinical and molecular findings in a cohort of ANO5-related myopathy.

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.

Egos has a reduced capacity to predicts GBS prognosis in Northeast Brazil.

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.

Thoracoabdominal asynchrony and paradoxical motion in middle stage amyotrophic lateral sclerosis.

Aim: To assess thoracoabdominal asynchrony (TAA) and the presence of paradoxical motion in middle stage amyotrophic lateral sclerosis (ALS) and its relationships with chest wall tidal volume (V), breathing pattern and cough peak flow (CPF).

Methods: Phase angle (θ) between upper (RCp) and lower ribcage (RCa) and abdomen (AB), as well as percentage of inspiratory time for the lower ribcage (IP) and abdomen (IP) moving in opposite directions were quantified using optoelectronic plethysmography in 12 ALS patients during quiet breathing and coughing. Paradoxical motion of the compartments was based on threshold values of θ and IP, obtained in twelve age and sex matched healthy persons.

Multiparametric Analysis of Sniff Nasal Inspiratory Pressure Test in Middle Stage Amyotrophic Lateral Sclerosis.

The relaxation rates and contractile properties of inspiratory muscles are altered with inspiratory muscle weakness and fatigue. This fact plays an important role in neuromuscular disorders patients and had never been extensively studied in amyotrophic lateral sclerosis (ALS). In this cross-sectional study, these parameters were investigated non-invasively through nasal inspiratory sniff pressure test (SNIP) in 39 middle stage spinal onset ALS subjects and compared with 39 healthy controls.

Noninvasive assessment of respiratory muscle strength and activity in Myotonic dystrophy.

Objective: To evaluate sensitivity/specificity of the maximum relaxation rate (MRR) of inspiratory muscles, amplitude of electromyographic activity of the sternocleidomastoid (SCM), scalene (SCA), parasternal (2ndIS) and rectus abdominis (RA) muscles; lung function and respiratory muscle strength in subjects with Myotonic dystrophy type 1 (DM1) compared with healthy subjects.

Design And Methods: Quasi-experimental observational study with control group. MRR of inspiratory muscles, lung function and amplitude of the electromyographic activity of SCM, SCA, 2ndIS and RA muscles during maximum inspiratory pressure (PImax), maximum expiratory pressure (PEmax) and sniff nasal inspiratory pressure (SNIP) tests were assessed in eighteen DM1 subjects and eleven healthy.

Effects of Air Stacking Maneuver on Cough Peak Flow and Chest Wall Compartmental Volumes of Subjects With Amyotrophic Lateral Sclerosis.

Objectives: To assess the acute effects of air stacking on cough peak flow (CPF) and chest wall compartmental volumes of persons with amyotrophic lateral sclerosis (ALS) versus healthy subjects positioned at 45° body inclination.

Design: Cross-sectional study with a matched-pair design.

Setting: University hospital.

Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease.

Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity.

Muscle impairment in neuromuscular disease using an expiratory/inspiratory pressure ratio.

Background: 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.