Esclerose lateral amiotrófica: considerações sobre critérios diagnósticos

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder, compromising the motor neuron, characterized by progressive muscle weakness, with reserved prognosis. The diagnosis is based on inclusion and exclusion clinical criteria, since there is no specific confirmation test. The objective of this research is to critically examine the main diagnosis instrument - El Escorial revisited, from the World Federation of Neurology (1998). Of the 540 patients with initial ALS diagnosis, either probable or definite, seen at UNIFESP-EPM, 190 underwent thorough investigation, following regular clinical and therapeutic treatment for over two years. Thirty patients (15.78%) had their diagnosis completely changed. The false-positive diagnoses were related to: early age, clinical presentation of symmetry, weakness greater than atrophy, symptomatic exacerbation. In addition, three patients with myasthenia gravis developed framework for ALS, suggesting the post-synaptic disability as a sign of early disease.Esclerose lateral amiotrófica (ELA) é uma doença neurodegenerativa, que compromete o neurônio motor, caracterizada por fraqueza muscular progressiva, com prognóstico reservado. O diagnóstico é baseado na inclusão e exclusão de critérios clínicos, uma vez que não existe um teste de confirmação específica. O objetivo desta pesquisa é analisar criticamente o instrumento de diagnóstico principal - El Escorial revisited, da Federação Mundial de Neurologia (1998). Dos 540 pacientes com diagnóstico inicial de ELA, seja provável ou definitiva, vistos pela UNIFESP-EPM, 190 foram submetidos a investigação aprofundada, após tratamento clínico e terapêutico regular há mais de dois anos. Trinta pacientes (15,78%) tiveram seu diagnóstico mudado completamente. Os diagnósticos falso-positivos foram relacionados à idade precoce, a apresentação clínica da simetria, a fraqueza superior a atrofia, exacerbação sintomática. Além disso, três pacientes com miastenia gravis desenvolveram quadro de ELA, sugerindo a lesão pós-sináptica como um sinal precoce da doença.Universidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina (EPM) Department of Neurology and NeurosurgeryUNIFESP, EPM, Department of Neurology and NeurosurgerySciEL

Assessment of energy expenditure in individuals with post-poliomyelitis syndrome

The objective of this study was to identify energy expenditure, retrospectively, in individuals with post-poliomyelitis syndrome (PPS) in the Brazilian population. Methods: The Baecke questionnaire for the evaluation of habitual physical activity (HPA), assessment of quality of life (WHOQOL-Bref), and the Fatigue Severity Scale were administered to patients with PPS, poliomyelitis sequelae (PS) and to a control group (CG). Participated in the study 116 individuals (PPS=52,PS= 28,CG=36). Results: Patients with PPS tended to increase their HPA from 10 to 20 years of age, compared with those in the PS group and the CG. In the period from 21 to 30 years of age, there was significant increase in the PPS group's occupational physical activity compared to the PS group, and the occupational physical activity (21-30 years of age) correlated with the onset of symptoms of PPS. Conclusion: Patients with PPS had a higher energy expenditure during life, especially in occupational physical activity at ages 21-30 years, suggesting this decade is critical for the development of PPS.Univ Fed Sao Paulo, Setor Invest Doencas Neuromusculares, Sao Paulo, SP, BrazilCtr Univ Augusto Motta, Mestrado Ciencias Reabilitacao, Bonsucesso, RJ, BrazilUniv Severino Sombra, Mestrado Ciencias Aplicadas Saude, Vassouras, RJ, BrazilUniv Fed Sao Paulo, Dept Anesthesiol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Setor Invest Doencas Neuromusculares, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Anesthesiol, Sao Paulo, SP, BrazilWeb of Scienc

Assessment of Induction, Recovery, Agitation upon Awakening, and Consumption with the Use of two Brands of Sevoflurane for Ambulatory Anesthesia

SummaryTomal CRG, Silva AGPD, Yamashita AM, Andrade PV, Hirano MT, Tardelli MA, Silva HCA — Assessment of Induction, Recovery,Agitation upon Awakening, and Consumption with the Use of two Brands of Sevoflurane for Ambulatory Anesthesia.Background and objectivesDue to its pharmacological characteristics, sevoflurane is the ideal anesthetic for short-duration procedures. There are two brands of sevoflurane in the Brazilian market, Sevocris® and Sevorane®, with different formulations and packaging. The objective of this study was to assess whether there are differences between the two anesthetics regarding induction, maintenance, recovery, and consumption.MethodsOne hundred and thirty children were included, divided into two groups according to the brand used: Group 1 was assigned to sevoflurane Cristália® and Group 2 to sevoflurane Abbott®. The following parameters were assessed: heart rate, systolic and diastolic blood pressure, fraction of inspired and expired sevoflurane, BIS values, tympanic temperature, induction and recovery time, agitation upon awakening measured by the PAED scale, and anesthetic consumption by weighing the vaporizers. Anesthesia was induced with 1 MAC and increased every three breaths at 0.5 MAC, up to 3 MAC.ResultsThere was no difference between groups regarding the duration of the procedure, the anesthesia, and the parameters evaluated at induction. In Group 1, the number of children who required additional bolus of sevoflurane for anesthesia maintenance was higher than in Group 2 (p<0.05). The fraction of inspired and expired sevoflurane at the end of the procedure was lower in Group 1 (p<0.001). Upon awakening, BIS value was lower in Group 1 (p=0.045). Other parameters evaluated in recovery showed no difference between groups. The use of anesthesia was similar between groups

Social representation of care recipients and of family care providers for the elderly

O presente artigo aborda as representações sociais do cuidado e do cuidador familiar da pessoa idosa. A pesquisa é de caráter qualitativo com a evocação dos termos cuidado e cuidador por meio de entrevista aplicada na residência de quinze idosos com dependência funcional de saúde, juntamente com seus cuidadores familiares. Os resultados apontam, como núcleo central das representações sociais, os sentimentos de amor, carinho, paciência e saúde. O significado social do cuidado, em conflito com a vivência do sofrimento dos cuidadores, assume uma função que lhes traz a sobrecarga física e emocional. A desigualdade de gênero presente entre os cuidadores também implica a necessidade de se refletir sobre os cuidadores como questão de políticas públicas.This article addresses the social representation of care recipients and of family care providers for the elderly. It is a qualitative study that evokes the terms care recipient and care provider in interviews in a residence for fifteen elderly people with functional health dependencies, along with their family care providers. The results indicate, as a central core of the social representations, feelings of love, care, patience and health. The social meaning of care recipient, in conflict with the experience of suffering of the care providers, assumes a function that creates a physical and emotional burden for these care providers. The gender inequality present among these care providers also implies a need to reflect on care providers as a public policy issue

Barriers to organizational communication : a study in a public organization of government of Federal District

Pesquisa de clima organizacional realizada em 2011 por consultoria externa especializada no âmbito de uma agência do governo do Distrito Federal apontou a necessidade de elabora-ção de planos de comunicação integrativos que previssem ações de curto, médio e longo prazo, a fim de melhorar a comunicação interna e externa da organização. Com o apoio em revisão de literatura enfocando gestão do conhecimento, teoria da comunicação e cultura organizacional, realizou-se estudo de natureza qualitativa, mediante grupo focal, envolvendo dez gestores e dez servidores públicos da referida agência, sobre barreiras à comunicação interna entre suas unidades administrativas. À transcrição das falas durante os grupos focais aplicou-se análise de conteúdo categorial temática. Como resultado, observou-se a existência de barreiras à comunicação nos níveis individual e organizacional. As categorias originadas foram i) Dissonância informacional e cognitiva (nível individual); ii) Desintegração informacional (nível organizacional); e iii) Redes pessoais e computacionais (nível individual e organizacional). Conclui-se que a disseminação, criação e compartilhamento de informa-ções dependem não somente da existência de sistemas de informação da organização, mas sobretudo da percepção e dos valores de indivíduos.An organizational climate survey conducted by an external consultancy at an agency of the Federal District government in 2011 pointed out the need for more integrated communica-tion plans that entailed actions in the short, medium and long terms to improve internal and external communication processes. With the support from a literature review on knowledge management, communication theory and organizational culture, we conducted a qualitative study through focus groups, involving ten top managers and ten civil servants at the referred public agency, on barriers to internal communication between administrative organization units. We have applied thematic content analysis to oral transcripts obtained from focus groups. As a result, one can observe the existence of barriers to communication at the individual and organizational levels. The analytical categories originated from the thematic content analysis were i) Informational and cognitive dissonance (individual); ii) Informational disintegration (organizational level); and iii) Personal and computer networking (individual and organizational level). We conclude that the dissemination, creation and sharing of in-formation at the organization depends not only on the availability of information systems, but, above all, on perceptions and values among individuals

Frequência e manifestações clínicas da síndrome pós-poliomielite em um centro terciário brasileiro

OBJECTIVE: To determine the frequency and clinical manifestations of patients with post-poliomyelitis syndrome (PPS) in a Brazilian division of neuromuscular disorders. METHODS: A total of 167 patients with prior history of paralytic poliomyelitis was investigated for PPS, based on international diagnostic criteria. Other variables analyzed were: gender, race, age at poliomyelitis infection, age at PPS onset, and PPS symptoms. RESULTS: One hundred and twenty-nine patients presented PPS, corresponding to 77.2% of the studied population. 62.8% were women and 37.2% were men. Mean age of patients with PPS at onset of PPS symptoms was 39.9±9.69 years. Their main clinical manifestations were: new weakness in the previously affected limbs (69%) and in the apparently not affected limbs (31%); joint pain (79.8%); fatigue (77.5%); muscle pain (76%); and cold intolerance (69.8%). CONCLUSIONS: Most patients of our sample presented PPS. In Brazil, PPS frequency and clinical features are quite similar to those of other countries.OBJETIVO: Determinar a frequência e as manifestações clínicas de pacientes com síndrome pós-poliomielite (SPP) em um setor terciário de doenças neuromusculares brasileiro. MÉTODOS: Um total de 167 pacientes com história prévia de poliomielite paralítica foi estudado para diagnóstico de SPP, de acordo com critérios diagnósticos internacionais. Além da SPP, as variáveis analisadas foram: gênero, raça, idade à época da poliomielite aguda e idade no início dos sintomas da SPP. RESULTADOS: Cento e vinte e nove pacientes apresentaram SPP, correspondendo a 77,2% da população estudada. Mulheres constituíram 62,8% dos pacientes e os homens, 37,2%. A média de idade dos pacientes com SPP à época do início dos sintomas foi de 39,9±9,69 anos. Suas principais manifestações clínicas foram: manifestações novas de fraqueza em membros previamente afetados (69%) e em membros aparentemente não afetados (31%); dores articulares (79,8%); fadiga (77,5%); dor muscular (76%) e intolerância ao frio (69,8%). CONCLUSÕES: A maioria dos pacientes da presente casuística apresentou SPP. No Brasil, a frequência e as características clínicas da SPP são similares às observadas em outros países.Federal University of São Paulo Division of Neuromuscular Disorders Department of Neurology and NeurosurgeryCentro Universitário Adventista de São Paulo Neurologic Rehabilitation Service of the PoliclínicaUNIFESP, Division of Neuromuscular Disorders Department of Neurology and NeurosurgerySciEL

Hipertermia maligna en Brasil: análisis de la actividad del hotline en 2009

BACKGROUND AND OBJECTIVES: Malignant hyperthermia (MH) is a pharmacogenetic disease that causes abnormal hypermetabolic reaction to halogenated anesthetics and/or depolarizing muscle relaxants. In Brazil, there is a hotline telephone service for MH since 1991, available 24 hours a day in São Paulo. This article analyzes the activity of the Brazilian hotline service for MH in 2009. METHODS: Prospective analysis of all phone calls made to the Brazilian hotline service for MH from January to December 2009. RESULTS: Twenty-two phone calls were received: 21 from the South/Southeast region of Brazil and one from the North region. Fifteen calls were requests for general information about MH. Seven were about suspected MH acute episodes, two of which were not considered as MH. In five episodes compatible with MH, all patients received halogenated volatile anesthetics (2, isoflurane; 3, sevoflurane) and one also used succinylcholine; there were four men and one woman, with a mean age of 18 years (2-27). The problems described in the five MH episodes were tachycardia (5), increased expired carbon dioxide (4), hyperthermia (3), acidemia (1), rhabdomyolysis (1), and myoglobinuria (1). One patient received dantrolene. All five patients with MH episodes were follow-up in the intensive care unit and recovered without sequelae. Susceptibility to MH was later confirmed in two patients by in vitro muscle contracture test. CONCLUSIONS: The number of calls per year in the Brazilian hotline service for MH is still low. The characteristics of MH episode were similar to those reported in other countries. The knowledge of MH in Brazil needs to be increased.JUSTIFICATIVA Y OBJETIVOS: La Hipertermia Maligna (HM) es una enfermedad farmacogenética, con una reacción hipermetabólica anormal a los anestésicos halogenados y/o relajantes musculares despolarizantes. Desde 1991 existe un servicio hotline de atención telefónica para la HM en Brasil a disposición las 24 horas del día en São Paulo. Este artículo analiza la actividad del servicio brasileño de hotline para la HM en el 2009. MÉTODOS: Análisis prospectivo de todas las llamadas telefónicas realizadas al servicio brasileño de hotline para la HM, desde enero a diciembre de 2009. RESULTADOS: Se recibieron 22 llamadas; 21 provenientes del Sur y Sudeste de Brasil y una del Norte. Quince eran solicitudes de informaciones generales sobre la HM. Siete fueron sobre sospechas de crisis agudas de HM, de las cuales dos no fueron consideradas como HM. En las cinco crisis compatibles con la HM, todos los pacientes recibieron anestésicos inhalatorios halogenados (2 isoflurano, 3 sevoflurano) y uno también usó succinilcolina. Había cuatro hombres y una mujer, con un promedio de edad de 18 años (2-27). Los problemas descritos en las cinco crisis de HM: taquicardia (cinco), aumento del gas carbónico espirado (cuatro), hipertermia (tres), acidemia (uno), rabdomiólisis (uno) y mioglobinuria (uno). Un paciente recibió dantrolene. Todos los cinco pacientes con crisis de HM recibieron acompañamiento en la unidad de cuidados intensivos y se recuperaron sin secuelas. La susceptibilidad a la HM fue posteriormente confirmada en dos pacientes por medio del test de la contractura muscular in vitro. CONCLUSIONES: El número de llamadas por año al servicio brasileño de hotline para la HM todavía es pequeño. Las características de las crisis fueron similares a las descritas en otros países. Es necesario aumentar el conocimiento que se tiene sobre la HM en Brasil.JUSTIFICATIVA E OBJETIVOS: Hipertermia maligna (HM) é doença farmacogenética, com reação hipermetabólica anormal a anestésicos halogenados e/ou relaxantes musculares despolarizantes. Desde 1991 há um serviço hotline de atendimento telefônico para HM no Brasil, disponível 24 horas por dia, em São Paulo. Este artigo analisa a atividade do serviço brasileiro de hotline para HM em 2009. MÉTODOS: Análise prospectiva de todas chamadas telefônicas paria maligna (HM) é doença farmacogenética, com reação hipermetabólica anormal a anestésicos halogenados e/ou relaxantes musculares despolarizantes. Desde 1991 há um serviço hotline de atendimento telefônico para HM no Brasil, disponível 24 horas por dia, em São Paulo. Este art go analisa a at vidade do serviço brasileiro de hotline para HM em 2009a o serviço brasileiro de hotline para HM, de janeiro a dezembro de 2009. RESULTADOS: Foram recebidas 22 ligações; 21 provenientes do Sul-Sudeste do Brasil e uma do Norte. Quinze eram pedidos de informações gerais sobre HM. Sete foram suspeitas de crises agudas de HM, das quais duas não foram consideradas como HM. Nas cinco crises compatíveis com HM, todos os pacientes receberam anestésicos inalatórios halogenados (2 isoflurano, 3 sevoflurano) e um usou também succinilcolina; havia quatro homens e uma mulher, com média de idade de 18 anos (2-27). Problemas descritos nas cinco crises de HM: taquicardia (cinco), aumento do gás carbônico expirado (quatro), hipertermia (três), acidemia (um), rabdomiólise (um) e mioglobinúria (um). Um paciente recebeu dantrolene. Todos os cinco pacientes com crises de HM foram seguidos em unidade de terapia intensiva e recuperaram-se sem sequelas. A suscetibilidade à HM foi posteriormente confirmada em dois pacientes por meio do teste de contratura muscular in vitro. CONCLUSÕES: O número de chamadas por ano no serviço brasileiro de hotline para HM ainda é reduzido. As características das crises foram similares às descritas em outros países. É preciso aumentar o conhecimento sobre HM no Brasil.Universidade Federal de São Paulo (UNIFESP) Escola Paulista de MedicinaUniversidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina (EPM) Setor de Doenças NeuromuscularesUNIFESP, EPM, Setor de Doenças NeuromuscularesSciEL

Telethonin protein expression in neuromuscular disorders

Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles. Mutations in the telethonin gene cause limb-girdle muscular dystrophy type 2G (LGMD2G). We investigated the sarcomeric integrity of muscle fibers in LGMD2G patients, through double immunofluorescence analysis for telethonin with three sarcomeric proteins: titin, alpha-actinin-2, and myotilin and observed the typical cross striation pattern, suggesting that the Z-line of the sarcomere is apparently preserved, despite the absence of telethonin. Ultrastructural analysis confirmed the integrity of the sarcomeric architecture. the possible interaction of telethonin with other proteins responsible for several forms of neuromuscular disorders was also analyzed. Telethonin was clearly present in the rods in nemaline myopathy (NM) muscle fibers, confirming its localization to the Z-line of the sarcomere. Muscle from patients with absent telethonin showed normal expression for the proteins dystrophin, sarcoglycans, dysferlin, and calpain-3. Additionally, telethonin showed normal localization in muscle biopsies from patients with LGMD2A, LGMD2B, sarcoglycanopathies, and Duchenne muscular dystrophy (DMD). Therefore, the primary deficiency of calpain-3, dysferlin, sarcoglycans, and dystrophin do not seem to alter telethonin expression. (C) 2002 Elsevier Science B.V. All rights reserved.Univ São Paulo, Ctr Study Human Genome, Dept Biol, IBUSP, BR-05508900 São Paulo, BrazilInt Ctr Genet Engn & Biotechnol, Tieste, ItalyUniv Padua, CRIBI Biotechnol Ctr, I-35121 Padua, ItalyHarvard Univ, Childrens Hosp, Sch Med, Div Genet, Boston, MA 02115 USAUniv Helsinki, Helsinki, FinlandUNIFESP, Dept Neurol, São Paulo, BrazilFMUSP, Dept Neurol, São Paulo, BrazilFMUSP, Dept Pathol, São Paulo, BrazilUNIFESP, Dept Neurol, São Paulo, BrazilWeb of Scienc

Rhinitis associated with asthma is distinct from rhinitis alone: TARIA‐MeDALL hypothesis

Asthma, rhinitis, and atopic dermatitis (AD) are interrelated clinical phenotypes that partly overlap in the human interactome. The concept of “one-airway-one-disease,” coined over 20 years ago, is a simplistic approach of the links between upper- and lower-airway allergic diseases. With new data, it is time to reassess the concept. This article reviews (i) the clinical observations that led to Allergic Rhinitis and its Impact on Asthma (ARIA), (ii) new insights into polysensitization and multimorbidity, (iii) advances in mHealth for novel phenotype definitions, (iv) confirmation in canonical epidemiologic studies, (v) genomic findings, (vi) treatment approaches, and (vii) novel concepts on the onset of rhinitis and multimorbidity. One recent concept, bringing together upper- and lower-airway allergic diseases with skin, gut, and neuropsychiatric multimorbidities, is the “Epithelial Barrier Hypothesis.” This review determined that the “one-airway-one-disease” concept does not always hold true and that several phenotypes of disease can be defined. These phenotypes include an extreme “allergic” (asthma) phenotype combining asthma, rhinitis, and conjunctivitis.info:eu-repo/semantics/publishedVersio