Amyotrophic Lateral Sclerosis: An Analysis of the Electromyographic Fatigue of the Masticatory Muscles.

Amyotrophic lateral sclerosis is a chronic degenerative disease that affects motor neurons, thereby promoting functional changes in the human body. The study evaluated the electromyographic fatigue threshold of the masseter and temporal muscles of subjects with amyotrophic lateral sclerosis. A total of eighteen subjects were divided into two groups: amyotrophic lateral sclerosis (n=9) and disease-free control (n=9). The groups were equally divided according to gender (7 males, 2 females). The fatigue threshold was analysed using median frequencies obtained during the 5-second window (initial [IP], mid [MP], and final [FP] periods) of electromyographic signalling of the masseter and temporal muscles bilaterally, with reduction in muscle force during maximal voluntary dental clenching. Significant difference (p<0.05) in the left temporal muscle: IP (p=0.05) and MP (p=0.05) periods was demonstrated. The amyotrophic lateral sclerosis group showed a decrease in median frequency of the electromyographic signal of the masseter and temporal muscles compared to the control group. Amyotrophic lateral sclerosis promotes functional impairment of the stomatognathic system, especially at the electromyographic fatigue threshold of the masticatory muscles.

DRPLA: An unusual disease or an underestimated cause of ataxia in Brazil?

BACKGROUND: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant spinocerebellar ataxia caused by pathological expansion of CAG trinucleotide repeats in the ATN1 gene. Most cases were described in patients from Japanese ancestry who presented with adult-onset progressive cerebellar ataxia associated with cognitive impairment, choreoathetosis and other movement disorders. DRPLA has been rarely described in Brazilian patients. METHODS: We performed a retrospective observational multicentric study including six different Neurology Centers in Brazil. All patients with genetically confirmed diagnosis of DRPLA had their medical records evaluated and clinical, genetic and neuroimaging features were analyzed. RESULTS: We describe of eight Brazilian patients (5 male, 3 female) from four nuclear families with genetically confirmed DRPLA. The most common neurological features included cerebellar ataxia (n = 7), dementia (n = 3), chorea (n = 2), psychiatric disturbances (n = 2), progressive myoclonic epilepsy (n = 2) and severe bulbar signs (n = 1). Progressive myoclonic epilepsy was observed in two juvenile-onset cases before 20-year. A large CAG trinucleotide length was observed in the two juvenile-onset cases and genetic anticipation was observed in all cases. Neuroimaging studies disclosed cerebellar atrophy (n = 6), as well as brainstem and cerebellar atrophy (n = 2) and leukoencephalopathy (n = 1). CONCLUSION: The patients described herein reinforce that clinical features of DRPLA are highly influenced by age of onset, genetic anticipation and CAG repetition lengths. There is a large complex spectrum of neurological features associated with DRPLA, varying from pure cerebellar ataxia to dementia associated with other movement disorders (myoclonus, choreoathetosis). DRPLA is an unusual cause of cerebellar ataxia and neurodegeneration in Brazilian patients.

Dynamic plantar pressure patterns in children and adolescents with Charcot-Marie-Tooth disease.

BACKGROUND: The dynamic plantar pressure patterns of children and adolescents with Charcot-Marie-Tooth (CMT) disease and its relationship to musculoskeletal alterations may help to understand the natural history of the disease and improve therapeutic interventions. RESEARCH QUESTION: The study compared dynamic plantar pressure patterns in children and adolescents with and without CMT. It also tested the associations between isometric muscle strength (IMS), passive range of motion (ROM), foot posture and dynamic plantar pressure patterns in CMT. METHODS: This cross-sectional study compared children and adolescents (aged 8-18 years) with CMT (n = 40) with a typical group (n = 40). The plantar pressure distribution during gait was recorded, and the contact area (CA), peak pressure (PP), contact time (CT) and pressure-time integral (PTI) in five foot regions (rearfoot, midfoot lateral, midfoot medial, lateral forefoot and medial forefoot) were analysed. The IMS of the dorsiflexors and plantar flexors, passive ROM, and foot posture were also recorded. RESULTS: PP (medial midfoot and medial forefoot) and PTI (rearfoot, lateral midfoot and medial forefoot) were higher in children with CMT compared with the typical group. The adolescents with CMT presented a less CA (whole foot) and a higher CT (medial midfoot) when compared with typical group. For CMT, in the medial midfoot, plantar flexor IMS associated with PP (ß=-11.54, p = 0.01) and PTI (ß=-3.38, p = 0.04); supinated foot posture associated with PP (ß = 33.89, p = 0.03) and PTI (ß = 12.01, p = 0.03). SIGNIFICANCE: Children with CMT showed clear changes in most of the dynamic plantar pressure variables, while adolescents with CMT showed changes mostly in CA and CT. This information together with the associations established between supinated foot, dorsiflexion ROM and plantar flexions IMS can be useful for guiding rehabilitation professionals in their therapies.

Which Factors in Spinocerebellar Ataxia Type 3 Patients Are Associated with Restless Legs Syndrome/Willis-Ekbom Disease?

There is evidence of a higher prevalence of restless legs syndrome/Willis-Ekbom disease (RLS/WED) in individuals with spinocerebellar ataxia type 3 (SCA3), although the factors underlying this association remain unknown. The present study aimed to determine the prevalence of RLS/WED in SCA3 patients and to investigate which factors of SCA3 patients are associated with presence of RLS/WED. From February to August of 2006, we carried out clinical interviews in 40 controls and 40 SCA3 patients, diagnosed and followed up at Faculty of Medicine of Ribeirão Preto, University of São Paulo. Twenty-seven SCA3 patients were submitted to a detailed clinical protocol, electroneuromyography, blood work up, polysomnography (PSG), suggested immobilization test (SIT), and magnetic resonance image (MRI). RLS/WED was found in 27.5% of SCA3 patients and 2.5% of normal controls (p = 0.003). The factors related to RLS/WED in SCA3 patients were female gender, age at start of the symptoms of ataxia after 30 years, presence of peripheral neuropathy, and documented iron deficiency. Among SCA3 patients, those with RLS showed higher values of maximal discomfort level and discomfort level sum compared to non-RLS individuals on SIT. There is a relation between RLS/WED and SCA3, which seems to be resultant of different factors whose identification could improve the quality of assistance to those patients as well as to promote a better comprehension of the pathophysiology of both RLS/WED and SCA3.

Huntington's disease-like 2: a phenocopy not to miss.

A 67-year-old Brazilian man of African ancestry and his 60-year-old sister both presented with choreiform movements, although in the man these were significantly overshadowed by additional parkinsonism. The man also had a history of four epileptic seizures. Neurological examination in each also found slow saccades and a dysexecutive syndrome. Genetic tests for Huntington's disease were negative but were positive for Huntington's disease-like 2. There are various genetic causes of chorea diseases, and their correct identification is important for appropriate clinical management and genetic counselling.

Spinocerebellar ataxia: Functional analysis of the stomatognathic system

Background: Neurodegenerative diseases that affect the cerebellum, especially in elderly individuals, cause impairment of motor coordination and quality of life. The presente study evaluated the electromyographic activity and thickness of the right and left masseter and temporal muscles, and the maximum molar bite force of individuals with spinocerebellar ataxia. Material and Methods: Twenty-eight individuals were divided into two groups: those with (n=14) and without (n=14) spinocerebellar ataxia. Data on the masticatory muscles obtained from the electromyographic activity (resting, right and left laterality and protrusion), muscle thickness (maximal voluntary contraction and tensile strength) and maximum bite force (right and left) were tabulated and descriptive analysis using Student’s t-test (P ≤ 0.05). Results: In the comparison between groups, greater electromyographic activity was demonstrated for individuals with spinocerebellar ataxia, with a statistically significant difference in protrusion and laterality for the temporal muscles (P = 0.05). T here was no statistically significant d ifference b etween t he g roups for m asticatory muscles thickness in the conditions evaluated. For maximum molar bite force, the group with spinocerebellar ataxia showed lower bite force (P ≤ 0.05). Conclusions: The data obtained suggest that spinocerebellar ataxia promotes functional reduction in the stomatognathic system, mainly affecting the electromyographic activity and bite force, hindering chewing, with a resultant alteration of nutritional intake and a decrease of quality of life

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Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.

BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an important form of inherited ataxia with a varied clinical spectrum. Detailed studies of phenotype and genotype are necessary to improve diagnosis and elucidate this disorder pathogenesis. OBJECTIVE AND METHODS: To investigate the clinical phenotype, retinal architecture, neuroimaging features and genetic profile of Brazilian patients with ARSACS, we performed neurological and ophthalmological evaluation in thirteen Brazilian patients with molecularly confirmed ARSACS, and examined their mutation profiles. Optical coherence tomography protocol (OCT) consisted in peripapillary retinal nerve fiber layer (RNFL) measurement and qualitative analysis of perifoveal scans. Neuroimaging protocol accessed the frequency of atrophy in cerebellum, corpus callosum and parietal lobe, brainstem signal abnormalities, and posterior fossa arachnoid cysts. We reviewed the literature to delineate the ARSACS phenotype in the largest series worldwide. RESULTS: All patients had ataxia and spasticity, and 11/13 had peripheral neuropathy. Macular microcysts were present in two patients. Peripapillary striations, dentate appearance of inner retina and papillomacular fold were found in eleven cases. All individuals exhibited thickening of RNFL in OCT. The most frequent radiological signs were cerebellar atrophy (13/13), biparietal atrophy (12/13), and linear pontine hypointensities (13/13). Genetic analysis revealed 14 different SACS variants, of which two are novel. CONCLUSION: Macular microcysts, inner retina dentate appearance and papillomacular fold are novel retinal imaging signs of ARSACS. Ophthalmological and neuroimaging changes are common findings in Brazilian patients. The core clinical features of ARSACS are ataxia, spasticity and peripheral neuropathy with onset predominantly in the first decade of life.

Ipsilateral proprioceptive neuromuscular facilitation patterns improve overflow and reduce foot drop in patients with demyelinating polyneuropathy.

The purpose of this study was to evaluate the response of the tibialis anterior muscle (TAm) using surface electromyography in patients with Charcot-Marie-Tooth disease (CMT-IA), after ipsilateral proprioceptive neuromuscular patterns (PNF). Thirteen CMT-IA patients (both sexes) were treated twice a week, for 5 weeks, with bilateral PNF pattern, four times per treatment. During the execution of the patterns, we recorded the bilateral activation of the TAm in root mean square (RMS). We used the Student paired t-test for the first and last treatments, P-value set at <0.05. Clinical significance (CS) was obtained by subtracting the values of the first treatment from the last. Chopping pattern to the right side increased RMS for the right (t=-3.52, CS=52%), but not the left TAm (t= -3.35). Flexion-abduction with external rotation pattern to the right (t= -2.46, CS=55%) and left (t=-2.07, CS=53%) significantly increased RMS for TAm on both sides. Extension-adduction with internal rotation pattern to the right (t=-0.25) and left (t=-1.84) did not produce any changes in TAm. Ipsilateral PNF patterns selectively produce TAm overflow in peripheral polyneuropathy patients and can be successfully used as supportive therapy for foot drop.

The elderly and healthcare plans in Brazil: analysis of the complaints received by the National Regulatory Agency for Private Health Insurance and Plans.

Although the Unified Healthcare System provides universal coverage, about 25% of the population in Brazil has some form of private healthcare. Considering that the population is aging, the prevalence of chronic diseases and the high costs associated with healthcare, the goal of this study is to assess if the barriers to access and use of the services offered by healthcare plans, expressed as beneficiary complaints, have a greater impact on the elderly than on adults and children. Transverse, exploratory study using a quantitative descriptive approach and secondary data provided by the ANS (the National Regulatory Agency for Private Health Insurance and Plans). This study analyzed complaints filed with the ANS by beneficiaries in the Southeast of Brazil between 2010 and 2012. The study population corresponded to 92,235 complaints. The elderly filed proportionately more complaints (60.8 vs. 25.5 complaints per 10 thousand beneficiaries). The most frequent (68.1%) complaints by the elderly were related to coverage. The results reinforce the idea that the organizational elements of private healthcare plans affect especially those groups most likely to use healthcare plans.

Idosos e planos de saúde no Brasil: análise das reclamações recebidas pela Agência Nacional de Saúde Suplementar / The elderly and healthcare plans in Brazil: analysis of the complaints received by the National Regulatory Agency for Private Health Insurance and Plans

Resumo Embora conte com um Sistema Único de Saúde com cobertura universal, cerca de 25% da população brasileira possui seguros de saúde privados. Considerando o contexto atual de envelhecimento populacional, prevalência de doenças crônicas e altos custos associados aos cuidados em saúde, o presente estudo tem o objetivo de avaliar se as barreiras ao acesso e ao uso dos serviços dos planos de saúde, expressas em reclamações de beneficiários, afetam de forma mais contundente a população idosa, comparativamente a adultos e crianças. Estudo transversal e exploratório que adotou uma abordagem quantitativa descritiva utilizando dados secundários da Agência Nacional de Saúde Suplementar (ANS). Foram analisadas reclamações recebidas pela ANS de beneficiários da Região Sudeste do Brasil no período de 2010-2012. A população de estudo correspondeu a 92.235 reclamações. Os idosos foram o grupo populacional que proporcionalmente apresentou mais reclamações (60,8 versus 25,5 reclamações/10.000 beneficiários). O tema mais frequente das reclamações dos idosos esteve relacionado à cobertura assistencial (68,1%). Os resultados reforçam a ideia de que dispositivos organizacionais dos planos de saúde privados afetam em especial os grupos mais propensos a utilizar os serviços de saúde.

Abstract Although the Unified Healthcare System provides universal coverage, about 25% of the population in Brazil has some form of private healthcare. Considering that the population is aging, the prevalence of chronic diseases and the high costs associated with healthcare, the goal of this study is to assess if the barriers to access and use of the services offered by healthcare plans, expressed as beneficiary complaints, have a greater impact on the elderly than on adults and children. Transverse, exploratory study using a quantitative descriptive approach and secondary data provided by the ANS (the National Regulatory Agency for Private Health Insurance and Plans). This study analyzed complaints filed with the ANS by beneficiaries in the Southeast of Brazil between 2010 and 2012. The study population corresponded to 92,235 complaints. The elderly filed proportionately more complaints (60.8 vs. 25.5 complaints per 10 thousand beneficiaries). The most frequent (68.1%) complaints by the elderly were related to coverage. The results reinforce the idea that the organizational elements of private healthcare plans affect especially those groups most likely to use healthcare plans.

Association between spinocerebellar ataxias caused by glutamine expansion and psychiatric and neuropsychological signals - a literature review.

The autosomal dominant cerebellar ataxias, also known as spinocerebellar ataxias (SCA), are characterized by cerebellar degeneration and by their afferent and efferent connections. Currently, at least 31 types of SCA are described, among which a subset, comprising types 1, 2, 3, 6, 7, 17 of the disease, is distinguished due to sharing the same form of mutation involving the repetition of the series of CAG triplets, known as polyglutamine diseases (SCApolyQ). Through a systematic literature review using the Pubmed, PsycoINFO, LILACS and SciELO databases and the keywords Spinocerebellar Ataxia in association with the words neuropsychiatric, psychological, cognitive impairment(s) and psychiatric comorbidities this study aimed to identify the possible associations between SCApolyQ and neuropsychological and psychiatric symptoms/disorders. A greater presence of symptoms of depression and anxiety was evidenced, as well as the existence of cognitive impairments in the patients with SCApolyQ when compared with the general population, with important differences in the profile of these impairments among the types of SCA. It was observed that the findings, in general, indicated greater impairment in the executive functions, verbal fluency and verbal memory and that there was a higher concentration of studies for SCA2 and SCA3. However, there is a need for a greater number of studies using a more homogeneous methodology, which perform direct comparisons between the types of ataxias and that explore some of the still little evaluated neuropsychological functions and the different psychiatric disorders in their amplitude.

Postural control and functional strength in patients with type 2 diabetes mellitus with and without peripheral neuropathy.

OBJECTIVE: To assess the influence of diabetic neuropathy (DN) on balance and functional strength in patients with diabetes mellitus type 2 (DM2). DESIGN: Cross-sectional study. SETTING: Diabetes outpatient unit. PARTICIPANTS: Adults (N=62; age range, 40-65y): 32 with DM2 (19 subjects without DN and 13 with DN) and 30 without DM2 (control group). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Upright balance, evaluated in 4 situations (fixed platform, unstable platform, with eyes open, with eyes closed), and functional strength, assessed with a five-times-sit-to-stand test, were analyzed using an electromagnetic system, with a sensor placed over C7 to allow maximum trunk displacements in the anterior-posterior and medial-lateral directions. The Berg Balance Scale and the Timed Up & Go test were also used. RESULTS: Subjects with DM2 had greater anterior-posterior displacement (P<.05) in the unstable platform with eyes closed condition compared with those without DM2, whereas no difference in medial-lateral displacement was observed between these groups. A difference in time was observed in the five-times-sit-to-stand test (P<.05), with subjects in the control group performing the tasks faster than either group of subjects with DM2. Additionally, subjects in the control group showed a higher score in the Berg Balance Scale and performed the Timed Up & Go test in less time compared with subjects in other groups. CONCLUSIONS: Subjects with DM2, with or without DN, showed deficits in postural control and functional strength compared with healthy individuals of the same age group.

What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease.

Fabry disease is an X-linked inborn error of metabolism, which is caused by the deficiency of α-galactosidase A, leading to progressive accumulation of neutral glycosphingolipids and a-galactosyl breakdown products in most body fluids and several tissues, resulting in the clinical manifestations. The onset of Fabry disease symptoms in females is not observed as early as in males. We report a novel presentation of Fabry disease in a female patient with medical history of relapsing strokes and brain magnetic resonance angiography showing signs of microangiopathy and multiple lacunar strokes that were first diagnosed as Moyamoya disease (a chronic progressive cerebrovascular disease). The patient subsequently displayed increased levels of serum creatinine and proteinuria. Diagnosis of Fabry disease was made by a renal biopsy and was confirmed by molecular studies showing a missense mutation: c1066C > T (het) [R356W]. The diagnosis was delayed by 21 years with respect to her first symptom (stroke), probably because her initial clinical presentation was neurological and diagnosed as Moyamoya disease. Other factors that contributed to the delay of the diagnosis were the lack of acute or chronic pain (neuropathic pain) and angiokeratomas. Some similarities in the pathogenic aspects of the patient's vascular lesions lead us to speculate that this patient has Fabry disease, with a phenotype that had not yet been described. It is necessary to be aware of this possibility to avoid misdiagnosis of Fabry disease as Moyamoya disease.

Identification of adequate vehicles to carry nerve regeneration inducers using tubulisation.

BACKGROUND: Axonal regeneration depends on many factors, such as the type of injury and repair, age, distance from the cell body and distance of the denervated muscle, loss of surrounding tissue and the type of injured nerve. Experimental models use tubulisation with a silicone tube to research regenerative factors and substances to induce regeneration. Agarose, collagen and DMEM (Dulbecco's modified Eagle's medium) can be used as vehicles. In this study, we compared the ability of these vehicles to induce rat sciatic nerve regeneration with the intent of finding the least active or inert substance. The experiment used 47 female Wistar rats, which were divided into four experimental groups (agarose 4%, agarose 0.4%, collagen, DMEM) and one normal control group. The right sciatic nerve was exposed, and an incision was made that created a 10 mm gap between the distal and proximal stumps. A silicone tube was grafted onto each stump, and the tubes were filled with the respective media. After 70 days, the sciatic nerve was removed. We evaluated the formation of a regeneration cable, nerve fibre growth, and the functional viability of the regenerated fibres. RESULTS: Comparison among the three vehicles showed that 0.4% agarose gels had almost no effect on provoking the regeneration of peripheral nerves and that 4% agarose gels completely prevented fibre growth. The others substances were associated with profuse nerve fibre growth. CONCLUSIONS: In the appropriate concentration, agarose gel may be an important vehicle for testing factors that induce regeneration without interfering with nerve growth.

Huntington's disease-like 2 in Brazil--report of 4 patients.

Huntington's disease-like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntington's disease (HD). HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD-like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent.