Primary lateral sclerosis (PLS) functional rating scale: PLS-specific clinimetric scale.

INTRODUCTION: Our research aim was to develop a novel clinimetric scale sensitive enough to detect disease progression in primary lateral sclerosis (PLS). METHODS: A prototype of the PLS Functional Rating Scale (PLSFRS) was generated. Seventy-seven participants with PLS were enrolled and evaluated at 21 sites that comprised the PLSFRS study group. Participants were assessed using the PLSFRS, Neuro-Quality of Life (QoL), Schwab-England Activities of Daily Living (ADL), and the Clinical Global Impression of Change scales. Participants completed telephone assessments at 12, 24, and 48 weeks after enrollment. RESULTS: The PLSFRS demonstrated internal consistency as well as intrarater, interrater, telephone test-retest reliability, and construct validity. Significant changes in disease progression were detected at 6 and 12 months; changes measured by the PLSFRS vs the ALSFRS-R were significantly higher. DISCUSSION: The PLSFRS is a valid tool to assess the natural history of PLS in a shorter study period.

Efeitos da suplementacao de Beta-hidroxi-Beta-metilbutirato na eficiencia mecanica em canoístas de elite / Efectos de suplementación de Beta-hidroxi-Beta-methylbutyrate in mechanical efficiency in elite paddlers / Effects of supplementation Beta-hydroxy-Beta-methylbutyrate in mechanical efficiency in elite paddlers

Objetivo. O presente estudo prospectivo, randomizado, duplo‐cego e placebo‐controlado, verificou o efeito da ingestão de 3g/dia‐1 Beta‐hidroxi‐Beta‐metilbutirato sobre os parâmetros da curva força‐tempo em canoístas de elite. Método. Participaram 24 canoístas, homens, de elite, com 21.41±5.35 anos, 173.36±8.27cm e 69.83±10.29kg. Formaram‐se 2 grupos, um suplementado (HMB) e outro placebo (CON), ambos acompanhados por 14 dias e submetidos a teste máximo de 4min (pré e pós) num caiaque ergômetro. Resultados. Apontam melhora na eficiência mecânica em consonância com o aumento significativo do impulso gerado (17.23%, p=0.02), da potência média (26.6%, p=0.01), frequência de remada (13.5%, p=0.04), perante teste máximo de 4min em ergômetro. Conclusão. Houve melhora na capacidade de gerar potência, que pode estar associada com a suplementação de Beta‐hidroxi‐Beta‐metilbutirato, através da diminuição do catabolismo durante o treinamento; contudo, o mecanismo pelo qual isso pode ocorrer ainda é desconhecido (AU)

Objetivo. Este estudio aleatorizado, doble ciego prospectivo, controlado y placebo, tubo como objetivo comprobar el efecto de la ingesta de 3g/día‐1 de Beta‐hidroxi‐Beta‐metilbutirato en los parámetros de la curva fuerza‐tiempo en kayakistas de élite. Método. Veinticuatro kayakistas, hombres, élite con 21.41±5.35 años, 173.36±8.27cm y 69.83±10.29kg. Formado dos grupos, uno suplementado (HMB) y otro placebo (CON), ambos siguieron durante 14 días y sometido a máxima 4min prueba (pre y post) en un ergómetro kayak. Resultados. Se apreció una mejora en la eficiencia mecánica en relación con el aumento significativo del impulso generado (17.23% p=0.02), la potencia media (26.6% p=0.01), frecuencia de carrera (13.5% p=0.04) durante una prueba máxima en ergómetro de 4min. Conclusión. Hubo una mejora en la capacidad para generar energía, que puede estar asociada con la administración de suplementos de Beta‐hidroxi‐Beta‐metilbutirato mediante la reducción de catabolismo durante el entrenamiento, sin embargo, el mecanismo por el que esto puede ocurrir es aún desconocido (AU)

Objective. This prospective, randomized, double‐blind, placebo‐controlled, checked the effect of the intake of 3g/day‐1 of Beta‐Hidroxy‐Beta‐Methylbutyrato on the parameters of the force‐time curve in elite kayakers. Method. 24 paddlers, men, elite with 21.41±5.35 years, 173.36±8.27cm and 69.83±10.29kg. Formed two groups, one supplemented (HMB) and another placebo (CON), both followed for 14 days and subjected to maximum test 4min (pre and post) in a kayak ergometer. Results. Point improvement in mechanical efficiency in line with the significant increase in the generated pulse (17.23% p=0.02), average power (26.6% p=0.01), stroke frequency (13.5% p=0.04) before maximum test 4min ergometer. Conclusion. There was improvement in the ability to generate power, which may be associated with supplementation of Beta‐Hidroxy‐Beta‐Methylbutyrato by reducing catabolism during training, however the mechanism by which this may occur is still unknown (AU)

Association Between Dietary Intake and Function in Amyotrophic Lateral Sclerosis.

IMPORTANCE: There is growing interest in the role of nutrition in the pathogenesis and progression of amyotrophic lateral sclerosis (ALS). OBJECTIVE: To evaluate the associations between nutrients, individually and in groups, and ALS function and respiratory function at diagnosis. DESIGN, SETTING, AND PARTICIPANTS: A cross-sectional baseline analysis of the Amyotrophic Lateral Sclerosis Multicenter Cohort Study of Oxidative Stress study was conducted from March 14, 2008, to February 27, 2013, at 16 ALS clinics throughout the United States among 302 patients with ALS symptom duration of 18 months or less. EXPOSURES: Nutrient intake, measured using a modified Block Food Frequency Questionnaire (FFQ). MAIN OUTCOMES AND MEASURES: Amyotrophic lateral sclerosis function, measured using the ALS Functional Rating Scale-Revised (ALSFRS-R), and respiratory function, measured using percentage of predicted forced vital capacity (FVC). RESULTS: Baseline data were available on 302 patients with ALS (median age, 63.2 years [interquartile range, 55.5-68.0 years]; 178 men and 124 women). Regression analysis of nutrients found that higher intakes of antioxidants and carotenes from vegetables were associated with higher ALSFRS-R scores or percentage FVC. Empirically weighted indices using the weighted quantile sum regression method of "good" micronutrients and "good" food groups were positively associated with ALSFRS-R scores (ß [SE], 2.7 [0.69] and 2.9 [0.9], respectively) and percentage FVC (ß [SE], 12.1 [2.8] and 11.5 [3.4], respectively) (all P < .001). Positive and significant associations with ALSFRS-R scores (ß [SE], 1.5 [0.61]; P = .02) and percentage FVC (ß [SE], 5.2 [2.2]; P = .02) for selected vitamins were found in exploratory analyses. CONCLUSIONS AND RELEVANCE: Antioxidants, carotenes, fruits, and vegetables were associated with higher ALS function at baseline by regression of nutrient indices and weighted quantile sum regression analysis. We also demonstrated the usefulness of the weighted quantile sum regression method in the evaluation of diet. Those responsible for nutritional care of the patient with ALS should consider promoting fruit and vegetable intake since they are high in antioxidants and carotenes.

Cognitive-behavioral screening reveals prevalent impairment in a large multicenter ALS cohort.

OBJECTIVES: To characterize the prevalence of cognitive and behavioral symptoms using a cognitive/behavioral screening battery in a large prospective multicenter study of amyotrophic lateral sclerosis (ALS). METHODS: Two hundred seventy-four patients with ALS completed 2 validated cognitive screening tests and 2 validated behavioral interviews with accompanying caregivers. We examined the associations between cognitive and behavioral performance, demographic and clinical data, and C9orf72 mutation data. RESULTS: Based on the ALS Cognitive Behavioral Screen cognitive score, 6.5% of the sample scored below the cutoff score for frontotemporal lobar dementia, 54.2% scored in a range consistent with ALS with mild cognitive impairment, and 39.2% scored in the normal range. The ALS Cognitive Behavioral Screen behavioral subscale identified 16.5% of the sample scoring below the dementia cutoff score, with an additional 14.1% scoring in the ALS behavioral impairment range, and 69.4% scoring in the normal range. CONCLUSIONS: This investigation revealed high levels of cognitive and behavioral impairment in patients with ALS within 18 months of symptom onset, comparable to prior investigations. This investigation illustrates the successful use and scientific value of adding a cognitive-behavioral screening tool in studies of motor neuron diseases, to provide neurologists with an efficient method to measure these common deficits and to understand how they relate to key clinical variables, when extensive neuropsychological examinations are unavailable. These tools, developed specifically for patients with motor impairment, may be particularly useful in patient populations with multiple sclerosis and Parkinson disease, who are known to have comorbid cognitive decline.

Autonomic evaluation is independent of somatic evaluation for small fiber neuropathy.

BACKGROUND: The relationship between the autonomic reflex screening test (ARS) and measures of sensory function and structure (quantitative sensory testing (QST) and intraepidermal nerve fiber density (IENFD)) remains uncertain in patients with distal small fiber neuropathy (SFN). The aim of this study was to evaluate the correlations among a range of autonomic (quantitative sudomotor axon reflex test (QSART), cardiovagal and cardio adrenergic tests and the composite autonomic severity score (CASS)) and somatic sensory measures (QST of vibration, cooling and heat-pain thresholds and IENFD). METHOD: 122 patients with clinically suspected sensory neuropathy without motor weakness and with normal nerve conduction studies underwent blinded autonomic reflex screening test (ARS), quantitative sensory testing (QST) and skin biopsy (IENFD) for diagnosis of SFN. The relationship between autonomic and somatic sensory measures was assessed. RESULTS: There was no association between autonomic function measures (QSART volume, CASS_QSART, CASS_vagal, CASS_adrenergic or total CASS) and small fiber sensory measures (IENFD, cooling or heat-pain thresholds). Weak correlations were noted among some modalities of QST (vibration and cooling thresholds) and IENFD. DISCUSSION: Autonomic and sensory outcomes are independent (complementary) measures of distal SFN, and should where feasible be used concurrently in the evaluation of SFN.

ALS Multicenter Cohort Study of Oxidative Stress (ALS COSMOS): study methodology, recruitment, and baseline demographic and disease characteristics.

Abstract In a multicenter study of newly diagnosed ALS patients without a reported family history of ALS, we are prospectively investigating whether markers of oxidative stress (OS) are associated with disease progression. Methods utilize an extensive structured telephone interview ascertaining environmental, lifestyle, dietary and psychological risk factors associated with OS. Detailed assessments were performed at baseline and at 3-6 month intervals during the ensuing 30 months. Our biorepository includes DNA, plasma, urine, and skin. Three hundred and fifty-five patients were recruited. Subjects were enrolled over a 36-month period at 16 sites. To meet the target number of subjects, the recruitment period was prolonged and additional sites were included. Results showed that demographic and disease characteristics were similar between 477 eligible/non-enrolled and enrolled patients, the only difference being type of health insurance among enrolled patients. Sites were divided into three groups by the number of enrolled subjects. Comparing these three groups, the Columbia site had fewer 'definite ALS' diagnoses. This is the first prospective, interdisciplinary, in-depth, multicenter epidemiological investigation of OS related to ALS progression and has been accomplished by an aggressive recruitment process. The baseline demographic and disease features of the study sample are now fully characterized.

Contribution of QSART to the diagnosis of small fiber neuropathy.

INTRODUCTION: We evaluated incorporation of the quantitative sudomotor axon reflex test (QSART) into the diagnostic criteria for small fiber neuropathy (SFN) as an addition to quantitative sensory testing (QST) and intraepidermal nerve fiber density (IENFD) testing. METHODS: One hundred one patients with clinically suspected SFN underwent QSART, QST, and skin biopsy. The diagnostic yield of existing SFN criteria in these patients was compared with criteria incorporating QSART. The new combined diagnostic criteria were evaluated. RESULTS: SFN was diagnosed in 38 of the 101 patients (38%) using current criteria. Addition of QSART existing SFN criteria resulted in an increased diagnostic yield to 67 patients (66%). Applying new SFN criteria requiring abnormality in at least 2 assessments among QSART, QST, and IENFD resulted in a diagnosis of SFN in 57 patients (56%). CONCLUSION: Assessment of both somatic and peripheral autonomic small nerve fibers enhances diagnostic criteria for SFN.

Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.

OBJECTIVE: Spinal muscular atrophies (SMAs) are hereditary disorders characterized by weakness from degeneration of spinal motor neurons. Although most SMA cases with proximal weakness are recessively inherited, rare families with dominant inheritance have been reported. We aimed to clinically, pathologically, and genetically characterize a large North American family with an autosomal dominant proximal SMA. METHODS: Affected family members underwent clinical and electrophysiologic evaluation. Twenty family members were genotyped on high-density genome-wide SNP arrays and linkage analysis was performed. RESULTS: Ten affected individuals (ages 7-58 years) showed prominent quadriceps atrophy, moderate to severe weakness of quadriceps and hip abductors, and milder degrees of weakness in other leg muscles. Upper extremity strength and sensation was normal. Leg weakness was evident from early childhood and was static or very slowly progressive. Electrophysiology and muscle biopsies were consistent with chronic denervation. SNP-based linkage analysis showed a maximum 2-point lod score of 5.10 (theta = 0.00) at rs17679127 on 14q32. A disease-associated haplotype spanning from 114 cM to the 14q telomere was identified. A single recombination narrowed the minimal genomic interval to Chr14: 100,220,765-106,368,585. No segregating copy number variations were found within the disease interval. CONCLUSIONS: We describe a family with an early onset, autosomal dominant, proximal SMA with a distinctive phenotype: symptoms are limited to the legs and there is notable selectivity for the quadriceps. We demonstrate linkage to a 6.1-Mb interval on 14q32 and propose calling this disorder spinal muscular atrophy-lower extremity, dominant.

Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation.

We describe a large family with amyotrophic lateral sclerosis (ALS) caused by an I113T mutation in superoxide dismuatse type 1 (SOD1). The proband developed symptoms typical for ALS at age 39 years and is still walking five years later. Marked phenotypic variability is manifested by her mother with onset of gait difficulty and decision-making problems at age 67 years and a five-year course marked by progressive mild upper motor neuron weakness, frontotemporal dementia and chorea. An aunt's initial symptoms included foot numbness and an uncle with the mutation is asymptomatic. Penetrance is only 50% at age 60 years and 88% at age 80 years with an 86-year-old woman harboring the mutation and having a normal neurologic examination. This family highlights the extreme variability in age of onset, clinical manifestations, disease progression and penetrance due to the I113T SOD1 mutation.

Late-onset Tay-Sachs disease: adverse effects of medications and implications for treatment.

The authors conducted a retrospective and brief prospective study of adverse effects of approximately 350 medications in 44 adults with late-onset Tay-Sachs disease (LOTS). Some medications were relatively safe, whereas others, particularly haloperidol, risperidone, and chlorpromazine, were associated with neurologic worsening.

Comparação de equaçoes de estimativa do consumo máiximo de oxigênio em indivíduos jovens / Comparation of maximal oxygen consumption equations in young people

PURPOSE: To compare the results of equations for estimate of the indirect maximal oxygen consumption with obtained them in test ergoespirometric in young individuals. METHODS: Fifty-two individuals of the masculine sex were submitted to the test of effort with it analyzes direct of gases in treadmill for the determination of the maximum consumption of oxygen (VO2máx). The progressive protocol was used with load increment to each one minute. The obtained results were compared ace equations of Jackson et al and the one of Mathews et al. For the statistical analysis of the results the test of multiple comparisons corrected by the test of Bonferrone was applied. The significance level was of p < 0.05. RESULTS: The average of age was of (21.06 +/- 2.75) years; body mass (70.85 +/- 9.15); thin mass (62.69 +/- 6.86); fat mass (8.30 +/- 4.77); percentile of fat (11.34 +/- 5.45) and maximun heartrate of (191.73 +/- 7.84). The equations of Jackson et al (VO2máx = 49.29 +/- 2.95) for a standard mistake of (EPE = 0.41) and Mathews et al (VO2máx = 37.43 +/-. 2.14) with a (EPE = 0,31) presenting tendency in underestimating the consumption of oxygen for the sample that was of (VO2máx = 55.34 +/- 8.34) for a (EPE = 1.16), being observed significant difference in relation to measure of the VO2máx obtained in test of effort (p < 0.05), for the value of Wilks'E = 0.044; F (2.500) = 539.27; p = 0.001. CONCLUSION: The equations didn't present a power of reliable estimate for the studied population.

A seleção brasileira de voleibol infanto-juvenil feminina e o seu perfil dermatoglífico / The Brazilian volleyball juvenile female team and its dermatoglyphic characteristics

OBJECTIVE: To identify the dermatoglypical caracteristics by the digital impressions. METHODS: The study was descriptive and 19 female athletics were included. They were 15.9 +/- 0.36 years old, there weight was 67.4 +/- 8.73kg, and thad 181.6 +/- 6.11cm, from the juvenile 2004 Brazilian voleybol juvenile selection team. The Cummins & Midlo (1942), method was used to identify the dermatoglyphical caracteristics by the digital impressions from 10 hand digits of athletes. RESULTS: The study showed the following model of digital impressions: A = 0.42 +/- 0.69; L = 6.89 +/- 2.89; W = 2.74 +/- 3.14; D10 = 12.32 +/- 3.51 e SQTL = 119.37 +/- 28.99. CONCLUSIONS: The present study confirmed that the dermatoglyphical characteristics of the female voleybol athletes of the juvenile Brazilian team are similar to that of the adult male team. Its necessary to compare these data with the adult female voley team, in order to stablish parameters to evaluate the potencial of future athletes.

Asymptomatic middle cerebral artery stenosis diagnosed by magnetic resonance angiography.

We reviewed 1440 MRA studies to identify patients with middle cerebral artery stenosis (MCAS). We identified 99 cases, and after reviewing the clinical records, classified 28 as asymptomatic MCAS (AMCAS), a prevalence of 2%. Suspected stroke was the most frequent indication for MRA. Follow-up was available for 21, mean 46.7 months (range 2.4-75.6 months). One stroke occurred in the AMCAS territory (5%), other strokes in five patients (24%). There were five deaths in patients with MCAS; age > 69 (P = 0.045) was the only associated risk factor. This study suggests that patients in whom MRA is performed and shows AMCAS may be at increased risk of strokes in any vascular distribution or of death.

Usar ou não a equação de estimativa (220 – idade)? / Using or not estimative equation (220 - age)?

A aplicabilidade das equações de estimativa da freqüência cardíaca máxima (FCmáx) se tornou ponto de discussão nos últimos anos, mas um dos pontos que foi levantado estaria relacionado à autoria da equação 220 – idade). Esse fato tem provocado um questionamento quanto ao princípio ético que envolve a citação de trabalhos. No caso, a referida equação é referenciada como sendo de autoria de Karvonen et al (8). Nossa surpresa ao adquirir o referido estudo foi que não havia qualquer menção sobre a equação (220 – idade). Na realidade, encontramos vários autores para esta fórmula na literatura. Um outro ponto que vem sendo questionado nos estudos é a sua eficácia em determinar a FCmáx para as diferentes idades. Na maioria das pesquisas constatou-se uma tendência em superestimar a FCmáx de indivíduos jovens e de subestimar em indivíduos idosos. Esses pontos levantados não são motivos de preocupação, pois a verdadeira filosofia da ciência é a quebra de paradigmas e renovação dos conhecimentos, o que nos preocupa é o fato de ouvirmos afirmações extremistas. Em nossa opinião, é necessária uma sistematização no estudo de todas as equações de estimativa antes de tomar algum posicionamento extremista.

The applicability of the equations to estimate maximal heart rate (HRmax) became discussion point in the last years, and one of the points raised is related to the authorship of the equation (220 - age). This fact has provoked a questioning about the ethical principle that involves works’ citation. In this case, the related equation is from Karvonen et al (8), our surprise was when, acquiring this study, we realized that it did not have any mention of the equation (220 - age). Actually, we found some authors for this formula in literature. Another point that is being questioned in the studies, is the effectiveness in determining the HRmax for different ages. Most of the researches evidenced a tendency to overestimate the HRmax of younger individuals and underestimate the HRmax of older individuals. These raised points are not reason for concern, because the true philosophy of science is to break paradigms in addition to knowledge renewal, what worries is the extreme affirmations we have been hearing. In our opinion, it is necessary a systematization of studies of all the estimative equations, before taking extreme positions.

Thrombolytic therapy for acute extra-cranial artery dissection: report of two cases.

Extra-cranial arterial dissection accounts for 10% of strokes in young people. Information on safety of thrombolytic administration in this group is limited. The literature, however, does not favor use of thrombolytics for myocardial ischemia when peripheral arterial dissection coexists. Based on the clinical and radiological features, two patients who presented with acute stroke secondary to arterial dissection were considered for thrombolysis. One of them received intra-venous recombinant tissue plasminogen activator (rtPA), and the other patient received intra-arterial rtPA. There were no post thrombolysis complications. This report supports feasibility of administering thrombolytics in acute ischemic strokes resulting from extra-cranial arterial dissection. Future larger studies are necessary to determine the efficacy, safety and long-term outcome in this patient population.

IgG allotypes and subclasses in Norwegian patients with multiple sclerosis.

Multiple sclerosis (MS) is a multifactorial disease in which genetic and environmental factors apparently have a major influence on the susceptibility and course of the disease. In the present study we have investigated the genetic basis and subclass levels of IgG in MS. Hundred and thirty-six Norwegian patients with MS and 92 controls were genotyped for IgG allotypes of the GM and KM systems. IgG and IgG subclasses were quantified in sera from 115 MS patients and 20 controls. Neither GM nor KM allo-, haplo- or genotypes were significantly correlated with susceptibility, severity or course of the disease. The G1M (3) (3), G2M (23) (23) and G3M (5) (5) allotypes were significantly correlated with high serum levels of IgG3, whereas high IgG2 levels were correlated with G1M (3) (3) and G2M (23) (23) in both patients and controls. Serum levels of IgG subclasses were not significantly correlated with course or severity of the disease. The results indicate no major role for IgG allotypes or IgG subclass levels in the pathogenesis of MS.

Liposuction: procedure for focal volume reduction and body contour remodeling.

Liposuction is the most commonly used procedure for focal reduction of body fat deposits and remodeling the body contour. The procedure consists in aspirating fat from lamellar deposits using a vacuum source connected to a cannula that is passed bluntly through fatty tissue. Adjuncts to the procedure include infiltration of solutions to aid in fat removal or to limit blood loss and the application of ultrasonic energy to lyse fat cells before suction aspiration. Surgical history, theory, procedures, indications, potential complications, and guidelines are discussed herein.

Motor threshold in transcranial magnetic stimulation: a comparison of a neurophysiological method and a visualization of movement method.

Motor threshold is a means of quantifying stimulus in transcranial magnetic stimulation. Two methods are used. One involves neurophysiology techniques and the other is visualization of movement. The aim was to compare the percentage of total machine output (PTMO) necessary to achieve motor threshold using these different methods. Neurophysiological and visualization of movement thresholds were determined in six subjects. In all subjects, the two thresholds were achieved with a < 10% difference in PTMO. Determination of motor threshold with a neurophysiological and a visualization of movement method produced similar results.