Periodic paralysis: anatomo-pathology of skeletal muscle of 14 patients

Periodic paralysis is a rare disease, characterized by transient weakness associated with abnormal levels of serum potassium. Muscle biopsy may show a wide range of abnormalities, vacuoles being more specifically linked to the disease. We analysed 17 muscle biopsies from 14 patients with periodic paralysis (14 hypokalemic, 2 hyperkalemic). All of them showed at least one histological abnormality. Fourteen specimens showed vacuoles that were peripheral, single, frequent and preferentially found in type I fibers. Frequency or severity of attacks did not correlate with the presence of vacuoles but those were more easily found in patients with long term disease. Ten biopsies showed tubular aggregates, specially on the patients with frequent crises or long term disease. A second biopsy was done in three patients and in two we observed a worsening of the histopathologic picture. One patient manifested interictal weakness with evident myopathic changes on the muscle biopsy. Nonspecific changes were found in variable degrees in 15 biopsies. Our study shows that vacuoles and tubular aggregates are frequent changes in periodic paralysis and therefore helpful for the diagnosis. Important myopathic findings in the muscle biopsy suggest a permanent myopathy which probably develops after severe crises or long term disease.A paralisia periódica é entidade caracterizada por crises de fraqueza muscular relacionadas com alterações do nível sérico de potássio. A biópsia muscular pode mostrar alterações específicas ou inespecíficas. Nosso estudo tem como objetivo a análise de 17 biópsias musculares de 14 pacientes com paralisia periódica (14 hipocalêmica, 2 hipercalêmica). Todas as biópsias mostraram alguma alteração histopatológica. Quatorze biópsias apresentavam vacúolos, que se caracterizavam por serem únicos, de localização periférica, de aparecimento frequente e preferentemente em fibras do tipo I. Os vacúolos eram mais visualizados naqueles pacientes com longa evolução e sem relação com a frequência de crises. Os agregados tubulares foram encontrados em 10 biópsias principalmente naqueles pacientes com crises frequentes e doença de longa evolução. Em 3 pacientes foram realizadas 2 biópsias, notando-se piora das alterações em 2. Um paciente evoluiu com quadro clínico de miopatia permanente, confirmado pela biópsia muscular. Alterações inespecíficas foram encontradas em graus variáveis em 15 biópsias. Nosso estudo mostra que os vacúolos e os agregados tubulares são achados frequentes na paralisia periódica, constituindo importante auxílio diagnóstico. Alterações miopáticas evidentes à biópsia sugerem o aparecimento de miopatia permanente, quadro decorrente de doença de longa evolução ou crises severas.Escola Paulista de MedicinaEscola Paulista de Medicina Departamento de Anatomia PatológicaUNIFESP, EPM, Depto. de Anatomia PatológicaSciEL

Microcephaly measurement in adults and its association with clinical variables

OBJECTIVE: To establish a microcephaly cut-off size in adults using head circumference as an indirect measure of brain size, as well as to explore factors associated with microcephaly via data mining. METHODS: In autopsy studies, head circumference was measured with an inelastic tape placed around the skull. Total brain volume was also directly measured. A linear regression was used to determine the association of head circumference with brain volume and clinical variables. Microcephaly was defined as head circumference that were two standard deviations below the mean of significant clinical variables. We further applied an association rule mining to find rules associating microcephaly with several sociodemographic and clinical variables. RESULTS: In our sample of 2,508 adults, the mean head circumference was 55.3 ± 2.7cm. Head circumference was related to height, cerebral volume, and sex (p < 0.001 for all). Microcephaly was present in 4.7% of the sample (n = 119). Out of 34,355 association rules, we found significant relationships between microcephaly and a clinical dementia rating (CDR) > 0.5 with an informant questionnaire on cognitive decline in the elderly (IQCODE) ≥ 3.4 (confidence: 100% and lift: 5.6), between microcephaly and a CDR > 0.5 with age over 70 years (confidence: 42% and lift: 2.4), and microcephaly and males (confidence: 68.1% and lift: 1.3). CONCLUSION: Head circumference was related to cerebral volume. Due to its low cost and easy use, head circumference can be used as a screening test for microcephaly, adjusting it for gender and height. Microcephaly was associated with dementia at old age

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

Currents issues in cardiorespiratory care of patients with post-polio syndrome

ABSTRACT Post-polio syndrome (PPS) is a condition that affects polio survivors years after recovery from an initial acute attack of the poliomyelitis virus. Most often, polio survivors experience a gradual new weakening in muscles that were previously affected by the polio infection. The actual incidence of cardiovascular diseases (CVDs) in individuals suffering from PPS is not known. However, there is a reason to suspect that individuals with PPS might be at increased risk. Method A search for papers was made in the databases Bireme, Scielo and Pubmed with the following keywords: post polio syndrome, cardiorespiratory and rehabilitation in English, French and Spanish languages. Although we targeted only seek current studies on the topic in question, only the relevant (double-blind, randomized-controlled and consensus articles) were considered. Results and Discussion Certain features of PPS such as generalized fatigue, generalized and specific muscle weakness, joint and/or muscle pain may result in physical inactivity deconditioning obesity and dyslipidemia. Respiratory difficulties are common and may result in hypoxemia. Conclusion Only when evaluated and treated promptly, somE patients can obtain the full benefits of the use of respiratory muscles aids as far as quality of life is concerned

Association between solar insolation and a history of suicide attempts in bipolar I disorder

In many international studies, rates of completed suicide and suicide attempts have a seasonal pattern that peaks in spring or summer. This exploratory study investigated the association between solar insolation and a history of suicide attempt in patients with bipolar I disorder. Solar insolation is the amount of electromagnetic energy from the Sun striking a surface area on Earth. Data were collected previously from 5536 patients with bipolar I disorder at 50 collection sites in 32 countries at a wide range of latitudes in both hemispheres. Suicide related data were available for 3365 patients from 310 onset locations in 51 countries. 1047 (31.1%) had a history of suicide attempt. There was a significant inverse association between a history of suicide attempt and the ratio of mean winter solar insolation/mean summer solar insolation. This ratio is smallest near the poles where the winter insolation is very small compared to the summer insolation. This ratio is largest near the equator where there is relatively little variation in the insolation over the year. Other variables in the model that were positively associated with suicide attempt were being female, a history of alcohol or substance abuse, and being in a younger birth cohort. Living in a country with a state-sponsored religion decreased the association. (All estimated coefficients p <0.01). In summary, living in locations with large changes in solar insolation between winter and summer may be associated with increased suicide attempts in patients with bipolar disorder. Further investigation of the impacts of solar insolation on the course of bipolar disorder is needed.Peer reviewe

Variations in seasonal solar insolation are associated with a history of suicide attempts in bipolar I disorder

Background: Bipolar disorder is associated with circadian disruption and a high risk of suicidal behavior. In a previous exploratory study of patients with bipolar I disorder, we found that a history of suicide attempts was associated with differences between winter and summer levels of solar insolation. The purpose of this study was to confirm this finding using international data from 42% more collection sites and 25% more countries. Methods: Data analyzed were from 71 prior and new collection sites in 40 countries at a wide range of latitudes. The analysis included 4876 patients with bipolar I disorder, 45% more data than previously analyzed. Of the patients, 1496 (30.7%) had a history of suicide attempt. Solar insolation data, the amount of the sun’s electromagnetic energy striking the surface of the earth, was obtained for each onset location (479 locations in 64 countries). Results: This analysis confirmed the results of the exploratory study with the same best model and slightly better statistical significance. There was a significant inverse association between a history of suicide attempts and the ratio of mean winter insolation to mean summer insolation (mean winter insolation/mean summer insolation). This ratio is largest near the equator which has little change in solar insolation over the year, and smallest near the poles where the winter insolation is very small compared to the summer insolation. Other variables in the model associated with an increased risk of suicide attempts were a history of alcohol or substance abuse, female gender, and younger birth cohort. The winter/summer insolation ratio was also replaced with the ratio of minimum mean monthly insolation to the maximum mean monthly insolation to accommodate insolation patterns in the tropics, and nearly identical results were found. All estimated coefficients were significant at p &lt; 0.01. Conclusion: A large change in solar insolation, both between winter and summer and between the minimum and maximum monthly values, may increase the risk of suicide attempts in bipolar I disorder. With frequent circadian rhythm dysfunction and suicidal behavior in bipolar disorder, greater understanding of the optimal roles of daylight and electric lighting in circadian entrainment is needed

A visão do aluno da educação a distância sobre o próprio perfil

O presente estudo tem por objetivo levantar informações sobre o perfil do aluno da Educação a Distância (EaD). Para isso foram pesquisadas referências associadas ás mudanças de papéis, características e competências mínimas necessárias para o aluno trabalhar nesta modalidade educacional. Para esta investigação de abordagem qualitativa o procedimento utilizado foi o estudo de caso, contou com a participação de sete alunos do semestre de conclusão de um curso a distância. A análise dos dados teve seu foco nas evidências encontradas nos registros do questionário, realizando o paralelo com a visão dos autores que embasaram o estudo. Os resultados mostram que o aluno vê a importância de assumir um perfil que promova sua aprendizagem á distância, incluindo mais sua participação, contribuição, iniciativa própria e o caráter ativo e produtivo

A visão do aluno da educação a distância sobre o próprio perfil

O presente estudo tem por objetivo levantar informações sobre o perfil do aluno da Educação a Distância (EaD). Para isso foram pesquisadas referências associadas ás mudanças de papéis, características e competências mínimas necessárias para o aluno trabalhar nesta modalidade educacional. Para esta investigação de abordagem qualitativa o procedimento utilizado foi o estudo de caso, contou com a participação de sete alunos do semestre de conclusão de um curso a distância. A análise dos dados teve seu foco nas evidências encontradas nos registros do questionário, realizando o paralelo com a visão dos autores que embasaram o estudo. Os resultados mostram que o aluno vê a importância de assumir um perfil que promova sua aprendizagem á distância, incluindo mais sua participação, contribuição, iniciativa própria e o caráter ativo e produtivo