Genetic epidemiology of familial ALS in Brazil.

Many genes associated with familial forms of the amyotrophic lateral sclerosis (fALS) have been identified in European and North American cohorts. However, little is known about the genetic bases of fALS in Latin America and Brazil, in particular. To address this question, we recruited 107 patients with fALS from 93 unrelated families from Southeastern, Southern, and Northeastern regions of the country.

Clinical, Histological, and Immunohistochemical Findings in Inclusion Body Myositis.

Sporadic inclusion body myositis (sIBM) is considered the most common acquired myopathy aged over 50 years. The disease is characterized by a particular process of muscle degeneration characterized by abnormal deposit of protein aggregates in association with inflammation. The aim of this study was to present clinical and muscle histopathological findings, including immunostaining for LC3B, p62, -synuclein, and TDP-43, in 18 patients with sIBM.

Augmentative and alternative communication in children with Down's syndrome: a systematic review.

Background: The use of technology to assist in the communication, socialization, language, and motor skills of children with Down's syndrome (DS) is required. The aim of this study was to analyse research findings regarding the different instruments of 'augmentative and alternative communication' used in children with Down's syndrome.

Methods: This is a systematic review of published articles available on PubMed, Web of Science, PsycInfo, and BVS using the following descriptors: assistive technology AND syndrome, assistive technology AND down syndrome, down syndrome AND augmentative and alternative communication.

Assistive technology for communication of older adults: a systematic review.

Objective: Describe the use of assistive technology to enhance communication opportunities for older adults.

Methods: A systematic review was conducted in two databases, PubMed and Web of Science, by using two different searches in each. The search was limited to original articles, in English language, including people aged 60 years and older that used any type of assistive technology for communication.

Computer classes and games in virtual reality environment to reduce loneliness among students of an elderly reference center: Study protocol for a randomised cross-over design.

Introduction: Physical and mental changes associated with aging commonly lead to a decrease in communication capacity, reducing social interactions and increasing loneliness. Computer classes for older adults make significant contributions to social and cognitive aspects of aging. Games in a virtual reality (VR) environment stimulate the practice of communicative and cognitive skills and might also bring benefits to older adults.

MUNIX: Reproducibility and clinical correlations in Amyotrophic Lateral Sclerosis.

Objective: To study the reproducibility, diagnostic yield to detect denervation, and clinical correlations of the Motor Unit Number Index (MUNIX) in subjects with Amyotrophic Lateral Sclerosis (ALS).

Methods: MUNIX evaluation was performed in three muscles twice on the same day to assess reproducibility. Cut-off values for the MUNIX were based on data from 51 healthy subjects (controls) to evaluate the sensitivity of the technique to detect denervation in 30 subjects with ALS.

Adolescent idiopathic scoliosis without limb weakness: a differential diagnosis of core myopathy?

Background: Core myopathies are a clinically and genetically heterogeneous group of congenital myopathies with the common defined histopathological feature of focally reduced oxidative activity on muscle biopsy. It has a low incidence, however, recent articles show broad clinical spectrum, suggesting that the real incidence should be considerably larger than previously described. Due to the important association between scoliosis and paravertebral muscle imbalance, numerous authors study, by biopsy of the spinal rotator muscles, potential changes that may elucidate the etiology of adolescent idiopathic scoliosis.

The mutations m.5628T>C and m.8348A>G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia.

We identified a double mutation in a patient with chronic progressive external ophthalmoplegia, located in the tRNA(Ala) (m.5628T>C) and tRNA(Lys) (m.8348A>G) genes.

Hepatitis C virus: a rare manifestation--remitting relapsing central and peripheral demyelination.

The most frequent neurologic manifestations of hepatitis C virus infection include peripheral neuropathy axonal type and central nervous system (CNS) vasculitis. Affected patients usually have cryoglobulinemia and other signs of vasculitis. Demyelinating lesions, both central and peripheral are rarely described.

Effects of exercises on Bell's palsy: systematic review of randomized controlled trials.

Objective: This study examined the effects of facial exercises associated either with mirror or electromyogram (EMG) biofeedback with respect to complications of delayed recovery in Bell's palsy.

Patients: Patients with unilateral idiopathic facial palsy were included in this review.

Interventions: Facial exercises associated with mirror and/or EMG biofeedback as treatment.

[Correlation between corticospinal tract degeneration through magnetic resonance imaging, and functional scale (ALSFRS) in patients with amyotrophic lateral sclerosis].

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects the corticospinal tract. ALS functional rating scale (ALSFRS) is a questionnaire that quantifies motor deficits, while diffusion tensor imaging (DTI) evaluates the integrity of fibers through the fractional anisotropy (FA). In the present study, seven ALS patients were evaluated by ALSFRS and immediately submitted to DTI, getting FA values in the following regions: cerebral peduncle (PC), internal capsule (CI) and the white matter under the primary motor cortex (M1), secondary motor cortex (M2) and somesthetic cortex (SI).

Histological analysis of palatopharyngeal muscle from children with snoring and obstructive sleep apnea syndrome.

Obstructive sleep apnea syndrome (OSAS) is an upper airway obstruction that occurs during the sleep. One of the suggested mechanisms involved in this process is a neuromuscular abnormality of the palatal muscles. Whether children with OSAS develop into OSAS adults, or children and adult OSAS are two distinct disorders occurring at different ages are questions to be answered.