Multi-minicore Disease Revisited.

Multi-minicore disease (MmD) is an infrequent congenital myopathy, defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganization of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalized weakness with predominance in axial and proximal limb muscles. Clinical variants also exist. Usually MmD is inherited as an autosomal recessive trait. Genetic heterogeneity is recognized and up to now mutations in the genes of RYR1 and SEPN1 have been detected. We record three unrelated cases of MmD. Case 1, with the classical benign form, was followed-up for 15 years. Case 2, presenting pharyngolaryngeal involvement and severe delay of head control, improved gradually, until independent gait was acquired at age of six years. A moderate restriction of daily life activities remains. Case 3, of antenatal-onset, was expressed by arthrogryposis of hands, predominance of scapular girdle deficit and a stable course after ten years on physiotherapy. All cases were selected by the characteristic morphological abnormalities in biceps brachii samples, including electron microscopy. Emphasis is given to case 2 due to type 1 fiber uniformity and mild endomysial fibrosis, posing a difficult differential diagnosis with congenital muscular dystrophy were it not for the significant number of multi-minicores.62935-

Computational evaluation of the footprint: reference values of the plantar arch index in a sample of the Brazilian population

The presence of the medial longitudinal arch (MLA) is characteristic of the human feet and has been used for the classification of the normal, cavus and flat foot. The literature provides information on several methods and different techniques for the measurement of the MLA, each of them presenting advantages and disadvantages. We chose the footprint method and the measurement of arch index (AI) as an indirect evaluation of the MLA height. This method was chosen due to its simple, cost-effective and noninvasive characteristics. We followed the basic principles of the IA measurement proposed by Cavanagh & Rodgers, but modified it, by introducing the footprint scanning and AI calculation using a software program created by one of the authors. A total of 100 footprints were analyzed from 25 male and 25 female healthy, nonobese subjects, with a mean age of 34.7 years, ranging from 10 to 59 years. The AI reference values obtained from a sample of the Brazilian population were 0.21< IA < 0.25. There was no significant statistical difference between the values obtained from the Brazilian and American samples.A presença do arco longitudinal medial (ALM) é característica dos pés humanos e através dele o pé tem sido classificado como normal, cavo e plano. A literatura permite escolher entre variados métodos e técnicas de mensuração do ALM, cada qual com vantagens e desvantagens. Optou-se pelo método da impressão plantar com medida do índice do arco (IA) para avaliar indiretamente a altura do ALM. A escolha foi motivada por ser a impressão plantar exeqüível com baixo custo e não invasiva. Seguiu-se o princípio básico do método de mensuração do IA proposto por Cavanagh & Rodgers, modificado pela introdução do escaneamento da impressão plantar e pelo cálculo do IA através de programa computacional elaborado por um dos autores. Foram avaliadas 100 impressões plantares de 25 homens e 25 mulheres sadios, não obesos, com média de idade de 34,7 anos, extremos de 10 a 59 anos. Obtiveram-se os valores de referência do IA de amostra da população brasileira: 0,21< IA < 0,25. A comparação estatística dos valores nacionais com os da amostra americana não mostrou diferença estatística significativa

Meningoradiculitis Due To Cryptococcus Neofermans In An Immunocompetent Patient.

Meningoradiculitis refers to combined involvement of meninges and nerve roots. The most frequent location is the lumbosacral region. Etiology is diverse, including inflammatory, infectious and neoplastic disorders. Meningoradiculitis is a rare form of involvement in cryptococcal infection. We describe a case of subacute lower limbs flaccid paresis diagnosed as lumbosacral meningoradiculitis in view of cerebrospinal fluid (CSF) inflammatory changes and typical enhancement on MRI of lumbar spine. Cryptococcus neoformans was isolated from CSF. Extensive screening yielded no immunodeficiencies.62147-

Evaluation of a questionnaire on symptom severity and functional status of patients with carpal tunnel syndrome

Este estudo consistiu na avaliação do questionário de Levine et al. (1993) Boston Carpal Tunnel Questionnaire, de avaliação da gravidade dos sintomas e do estado funcional de pacientes com síndrome do túnel do carpo (STC). O questionário consta de uma escala de gravidade dos sintomas – em domínios críticos na STC, como dor, parestesias, adormecimento, fraqueza, sintomas noturnos – e uma escala de estado funcional. Foi aplicado a 30 pacientes diagnosticados com a síndrome, que foram orientados a responder somente sobre a mão mais afetada pela patologia. Na análise dos resultados, não foram encontradas correlações entre a idade dos sujeitos e maior acometimento dos sintomas, nem com a prevalência de mão afetada. O questionário revelou-se consistente, pela estreita correlação entre as duas escalas: onde há maior gravidade dos sintomas, também há maior acometimentofuncional. Com a ressalva de que o questionário não prevê o caso de a mão mais afetada não ser a dominante, é um instrumento de fácil compreensão, adequado para padronizar a avaliação de pacientes com STC, sugerindo-se sua aplicação separadamente para cada mão.This study aimed at assessing the Boston Carpal Tunnel Questionnaire by Levine et al. (1993), a self-administered instrument for evaluating severity of symptoms and functional status in patients with carpal tunnel syndrome (CTS). It is made up of two scales: one on the severity of symptoms – pain, paresthesias, numbness, weakness, nocturnal symptoms – and the other on function impairment. It was answered by 30 patients with CTS, who were guided to answer only about the most affected hand. The analysis of results shows no correlation between age and severity of symptoms, nor between these and the most affected hand (right or left). The questionnaire proved consistent, since a highly positive correlation was found between the two scales: the more severe the symptoms, the worse the functional status. With the objection that it doen’st seem to have foreseen cases in which the dominant hand is not the most affected one, it is an instrument of easy application and understanding, hence suitable to standardize the assessment of CTS symptoms; it is here suggested that it be applied separately for each hand

Fibrodisplasia ossificante progressiva: relato de caso

Fibrodysplasia ossificans progressiva is a rare genetic disease characterized by widespread soft tissue ossification and congenital stigmata of the extremities. We report on a male child followed for ten years since the age of 3 years and 9 months, when the diagnosis was made. He was born with bilateral hypoplasic hallux valgus and ventricular septal defect, corrected by transsternal approach when 32 months old. Restriction of neck mobility followed and foci of ectopic ossification appeared. Four crises of disease exacerbation were treated with oral prednisone and/or other antiinflammatory drugs. Sodium etidronate 5 to 10 mg/kg/day was prescribed intermittently during about six years but was discontinued due to osteopenia. The disease course has been relentless, with severe movement restriction including the chest wall. A review showed few similar case reports in the Brazilian literature. We revisit the criteria for diagnosis and the essentials of management and treatment.Fibrodisplasia ossificante progressiva � uma doen�a gen�tica rara, caracterizada por ossifica��o disseminada em tecidos moles e estigmas cong�nitos nas extremidades. Relatamos sobre uma crian�a do sexo masculino, branca, que vem sendo acompanhada desde seus 3 anos e 9 meses quando diagnosticamos a doen�a. Nascida com halux valgo hipopl�sico bilateral e defeito do septo interventricular, submeteu-se a corre��o cir�rgica atrav�s de esternotomia, aos 32 meses de vida. Seguiram-se progressiva restri��o de movimentos cervicais e aparecimento de n�dulos duros e dolorosos em regi�es paravertebrais c�rvico-tor�cicas. Em dez anos, assistimos a quatro epis�dios bem definidos de exacerba��o da doen�a, com acr�scimos de ossifica��o ect�pica. Nessas ocasi�es, prescrev�amos prednisona oral e/ou antiinflamat�rios n�o hormonais. Etidronato de s�dio, 5 a 10 mg/kg/dia, foi utilizado em per�odos de dois ou tr�s meses, com intervalos de dois meses, durante seis anos. Osteopenia obrigou-nos a interromper o uso do quelante. A evolu��o tem sido inexor�vel, com limita��o intensa de movimentos tor�cicos e corp�reos. A revis�o da literatura brasileira revelou poucos casos semelhantes. Enfatizamos os crit�rios para diagn�stico e princ�pios b�sicos de tratamento.34234

Factors Associated With Increased Mortality And Prolonged Length Of Stay In An Adult Intensive Care Unit.

The intensive care unit is synonymous of high severity, and its mortality rates are between 5.4 and 33%. With the development of new technologies, a patient can be maintained for long time in the unit, causing high costs, psychological and moral for all involved. This study aimed to evaluate the risk factors for mortality and prolonged length of stay in an adult intensive care unit. The study included all patients consecutively admitted to the adult medical/surgical intensive care unit of Hospital das Clínicas da Universidade Estadual de Campinas, for six months. We collected data such as sex, age, diagnosis, personal history, APACHE II score, days of invasive mechanical ventilation orotracheal reintubation, tracheostomy, days of hospitalization in the intensive care unit and discharge or death in the intensive care unit. Were included in the study 401 patients; 59.6% men and 40.4% women, age 53.8±18.0. The mean intensive care unit stay was 8.2±10.8 days, with a mortality rate of 13.5%. Significant data for mortality and prolonged length of stay in intensive care unit (p 11, OT-Re and tracheostomy. The mortality and prolonged length of stay in intensive care unit intensive care unit as risk factors were: APACHE>11, orotracheal reintubation and tracheostomy.22250-25

Tradução e validação da versão brasileira da escala de gravidade na esclerose lateral amiotrófica (Egela)

O objetivo do trabalho foi traduzir a Amyotrophic Lateral Sclerosis Severity Scale para o português, como Escala de gravidade da esclerose lateral amiotrófica (Egela), além de validar e estudar sua confiabilidade. A escala foi submetida à versão e retroversão por tradutores bilíngües e três fisioterapeutas treinaram para padronizar sua aplicação. Foram avaliados 22 pacientes (5 mulheres, 17 homens, média de idade 45,9 anos) pela Egela e pela medida de independência funcional (MIF); 11 foram examinados para classificação de disfagia. Os coeficientes de correlação intraclasse dos domínios da Egela foram acima de 0,89. Foi constatada alta consistência interna em todos os seus domínios e para cada avaliador; foram encontradas fortes correlações entre a MIF motora e o escore espinhal da Egela (r=0.87 e pThe purpose was to translate the Amyotrophic Lateral Sclerosis Severity Scale (ALSSS) into Portuguese, to validate it and assess its reliability. The scale was submitted to bilingual translators, its abbreviation in Portuguese being Egela; three physical therapists were trained for its application. Twenty-two patients (5 women, 17 men, mean age 45.9) were evaluated by the Egela and by the functional independence measure (FIM); 11 of them were assessed for dysphagia classification. In all ALSSS domains the intraclass correlation coefficients were over 0.89; high internal consistency was found in all scale domains and for each examiner. Strong correlations were found between motor FIM and spinal ALSSS (r=0.87;

Recurrent apparent life-threatening event as the first manifestation of congenital myasthenia

OBJECTIVE: To alert pediatricians about the importance of a careful investigation on recurrent apparent life-threatening events. Reports of the association of these events with congenital myasthenic syndromes were not found. CASE DESCRIPTION: A seven-month-old infant with recurrent apparent life-threatening events was admitted for investigation. During hospital stay, she presented cyanosis and respiratory failure, requiring mechanical ventilation for three days. After clinical improvement, hypotheses of gastroesophageal reflux and pulmonary aspiration were ruled out. The presence of eyelid ptosis, general hypotonia and weak crying led to the suspicion of congenital myasthenia, which was confirmed. Treatment with oral piridostigmine led to neurological and nutritional normalization, without any other apparent life-threatening event during the next three years. COMMENTS: The careful etiological investigation of apparent life-threatening events may lead to rare diagnosis that requires specific treatments, such as congenital myasthenia.OBJETIVO: Alertar os pediatras sobre a necessidade de investigar criteriosamente a etiologia de eventos com aparente risco de morte recorrente. Não foram encontrados relatos associando tais eventos à miastenia congênita. DESCRIÇÃO DO CASO: Lactente de sete meses apresentando história de eventos com aparente risco de morte recorrente foi internado para investigação. Durante a internação, apresentou cianose e dispneia progressiva, com necessidade de ventilação mecânica por três dias. Após a melhora clínica, e tendo sido descartadas as hipóteses de doença do refluxo gastroesofágico e aspiração pulmonar como desencadeantes, notou-se ptose palpebral bilateral, hipotonia apendicular e choro fraco, que conduziram à suspeita clínica de miastenia congênita. Após confirmação do diagnóstico, foi mantido tratamento ambulatorial com piridostigmina, com recuperação nutricional e neurológica, sem novos eventos com aparente risco de morte nos três anos seguintes. COMENTÁRIOS: A investigação minuciosa das causas de eventos com aparente risco de morte pode levar a diagnósticos menos frequentes que exigem tratamento específico, como a miastenia congênita.OBJETIVO: Alertar a los pediatras sobre la necesidad de investigar criteriosamente la etiología de eventos con aparente riesgo de muerte recurrente. No se encontraron relatos asociando tales eventos a la miastenia congénita. DESCRIPCIÓN DEL CASO: Lactante de siete meses presentando historia de eventos con aparente riesgo de muerte recurrente fue internado para investigación. Durante la internación, presentó cianosis y disnea progresiva, con necesidad de ventilación mecánica por tres días. Después de la mejora clínica, y habiendo sido rechazadas las hipótesis de enfermedad del reflujo gastroesofágico y aspiración pulmonar como desencadenantes, se notó ptosis palpebral bilateral, hipotonía apendicular y lloro débil, que condujeron a la sospecha clínica de miastenia congénita. Después de la confirmación del diagnóstico, se mantuvo el tratamiento ambulatorial con piridostigmina, con recuperación nutricional y neurológica, sin nuevos eventos con aparente riesgo de muerte en los tres años siguientes. COMENTARIOS: La investigación minuciosa de las causas de eventos con aparente riesgo de muerte puede llevar a diagnósticos menos frecuentes que exigen tratamiento específico, como la miastenia congénita.12112