Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders / Efeito da pandemia do COVID-19 em pacientes com doenças neuromusculares hereditárias

ABSTRACT Background The COVID-19 pandemic has brought substantial challenges for current practices in treating hereditary neuromuscular disorders (hNMDs). However, this infection has not been the only concern for these patients. Social distancing has compromised multidisciplinary assistance and physical activity, and has brought about several mental health issues. We presented a follow-up on 363 patients with hNMDs at a Brazilian tertiary center during the peak of the COVID-19 pandemic. Objective We aimed to show the frequency and severity of SARS-CoV-2 infection among hNMD patients and to demonstrate the effects of the pandemic on life habits, disease progression and multidisciplinary supportive care status. Methods Three hundred and sixty-three patients (58% male and 42% female) were followed for three months through three teleconsultations during the peak of the COVID-19 pandemic in Brazil. Results There were decreases in the numbers of patients who underwent physical, respiratory and speech therapies. For several patients, their appetite (33%) and sleep habits (25%) changed. Physical exercises and therapies were interrupted for most of the patients. They reported new onset/worsening of fatigue (17%), pain (17%), contractions (14%) and scoliosis (7%). Irritability and sleep, weight and appetite changes, and especially diminished appetite and weight loss, were more frequent in the group that reported disease worsening. There was a low COVID-19 contamination rate (0.8%), and all infected patients had a mild presentation. Conclusion The isolation by itself was protective from a COVID-19 infection perspective. However, this isolation might also trigger a complex scenario with life habit changes that are associated with an unfavorable course for the NMD.

RESUMO Antecedentes: A Pandemia por COVID-19 tem trazido desafios subtanciais para a prática clínica no tratamento das doenças neuromusculares hereditárias (DNMh). A infecção não tem sido a única preocupação para os pacientes. O distanciamento social tem comprometido a assistência multidisciplinar, atividade física e tem trazido problemas mentais em decorrência do próprio isolamento. Nós apresentamos aqui um seguimento de 363 pacientes com DNMh de um centro terciário Brasileiro durante o pico da Pandemia de Covid-19. Objetivos: Mostrar a frequência e gravidade da infecção por Sars-Cov-2 em pacientes com DNMh e demonstrar os efeitos da pandemia nos hábitos de vida, na progressão da doença e no cuidado multidisciplinary. Métodos Trezentos e sessenta e três pacientes (58% homens and 42% mulheres) foram acompanhados por 3 meses através de 3 teleconsultas durante o pico da Pandemia de Covid-19 no Brasil. Resultados Houve um decréscimo no número de pacientes que faziam terapia física, respiratória e fonoaudiológica. Em muitos pacientes, o apetite (33%) e hábitos do sono (25%) se alteraram. Exercícios físicos e terapias foram interrompidas pela maioria dos pacientes. Physical exercises and therapies were interrupted for most of the patients. Eles relataram piora ou aparecimento de fadiga (17%), dor (17%), retrações (14%), e escoliose (7%). Irritabilidade, mudanças no sono, peso e apetite, sendo principalmente diminuição do apetite e peso foram mais frequentemente encontrados em pacientes que apresentaram piora clinica da doença. Houve uma baixa taxa de contaminação por Covid-19 (0.8%), e todos os pacientes infectado apresentaram quadro clinico leve. Conclusão O isolamento por si só se mostrou protetor na perspectiva de infecção por Covid-19, mas pode desencadear um cenário complexo com mudanças nos hábitos de vida e curso desfavorável da doença de base.

Pediatric Functional Constipation Questionnaire-Parent Report (PedFCQuest-PR): development and validation

Abstract Objective: Developing and validating a disease-specific instrument in the Brazilian Portuguese language to assess the Health-Related Quality of Life of children with functional constipation, applied to parents/caregivers. Methods: The process of developing the questionnaire was carried out in the following steps: items generation concerning functional constipation; elaboration of the preliminary questionnaire; assessment by health professionals; identifying problems or inconsistencies by the researchers; improvement of the questions; obtaining a final questionnaire named Pediatric Functional Constipation Questionnaire-Parent Form (PedFCQuest-PR) with 26 questions divided into four domains. Responses options use a Likert scale based on the events of the last four weeks. The process of validation was an observational, cross-sectional study in a sample of 87 parents/caregivers of children from 5 to 15 years of age diagnosed with Functional constipation according to the Rome IV Criteria. The questionnaire was applied simultaneously to the Pediatric Quality of Life Inventory 4.0 (PedsQL TM 4.0) as a control. Results: The questionnaire validation included 87 parents/caregivers. The children's median age was 8.2 years, with a long time of constipation symptoms associated with fecal incontinence in approximately two-thirds. Internal consistency reliability for the Total Scale Score of PedFC-Quest-PR by Coefficient Alpha of Cronbach score was 0.86. Convergent and divergent validity of PedFCQuest-PR was demonstrated by correlating the domains of both questionnaires. Conclusion: This study provides evidence that PedFCQuest-PR is a reliable instrument. The results showed a high degree of internal consistency and validity of the instrument for future applications.

Labeling food allergens in the packaged food pyramid groups in Brazil: analysis of descriptions, ambiguities, and risks / Rotulagem de alérgenos alimentares em alimentos embalados segundo grupos alimentares da pirâmide brasileira: análise da descrição, riscos e ambiguidades

ABSTRACT Objective: The aim of this study was to evaluate allergenic labeling components of packaged foods for "What is the quality of food labels?" and "What is the group of Brazilian Food Pyramid that 'May contain' is predominant?." Methods: The photographs of 916 products were obtained, of which 518 were analyzed. Data from each label were evaluated according to Brazilian Food Pyramid Groups (i.e., Cereals, Fruits, & Vegetables; Soybean & products; Milk & dairy products; Meat & eggs; Fats & oils; and Sugars & sweets). Ten items were analyzed in each label, namely, the presence of a list of ingredients, alert phrase for allergy sufferers, grouping of the alert phrase, phrase location, uppercase phrase, the phrase in bold, the color of alert phrase contrasting to the background, adequate font size, do not claim the absence for any allergen with the ingredients, and others factors that make it difficult to read. For the second question, a structured questionnaire was completed, and products were classified into two categories, namely, "Contain" and "May contain." Results: The quality of the label was appropriate, and 69% of packaged foods had at least one allergen. The information "May contain" were higher in cow's milk (Cereals and Meat & eggs), soy (Soybean & products), and egg protein (Cereals). Soybean & products were the highest insecurity group. Conclusions: Brazilian health professionals can count on good-quality labeling of packaged products. Consequently, they could promote patients' and parents/caregivers' education to consult the labels and manage the risks in processed foods about precautionary allergen labeling. Soybean & products were the most significant insecurity for food choices between Brazilian Pyramid Groups.

RESUMO Objetivo: Avaliar os componentes alergênicos da rotulagem de alimentos embalados e responder "Qual é a qualidade da rotulagem?" e "Qual é o grupo de alimentos em que a expressão 'Pode conter' é predominante?". Métodos: Foram obtidas fotografias de 916 produtos, dos quais 518 foram analisados. Os dados dos rótulos foram avaliados de acordo com os grupos da pirâmide alimentar brasileira (Cereais, Frutas & Vegetais; Soja & Derivados; Leite & Laticínios; Carne & Ovos; Gorduras & Óleos; Açúcares & Doces). Dez itens foram analisados nos rótulos: presença de lista de ingredientes; frase de alerta para alérgicos; frase de alerta; local da frase; frase em letras maiúsculas; frase em negrito; a cor da frase de alerta contrastando com o fundo; tamanho de fonte adequado; não alegar ausência de qualquer alérgeno; outros fatores de difícil leitura. Para a segunda questão, foi respondido questionário estruturado, e os produtos classificados em categorias: "Contém" e "Pode conter". Resultados: A qualidade do rótulo foi adequada e 69% dos alimentos embalados continham pelo menos um alérgeno. A informação "Pode conter" foi mais identificada em: proteína do leite (Cereais e Carnes e ovos), soja (Soja & derivados) e proteína do ovo (Cereais). Soja e derivados foi o grupo alimentar de maior insegurança. Conclusões: Profissionais de saúde podem contar com rotulagem de boa qualidade dos produtos embalados e, consequentemente, promover a educação de pais/cuidadores para consultar os rótulos e gerenciar os riscos em alimentos processados. Soja e produtos são os alimentos com maior insegurança entre os Grupos da Pirâmide Brasileira.

Intake, bioavailability, and absorption of iron in infants aged 6 to 36 months: an observational study in a Brazilian Well Child Clinic

BACKGROUND: Preventing the development of iron deficiency anemia during infancy requires the appropriate complementary foods with high energy, nutrient density, and adequate iron content, as well as high nutrient bioavailability. We aimed to evaluate iron intake, bioavailability, and absorption from foods, in healthy infants and toddlers at a Well Child Clinic. METHODS: This observational, cross-sectional, descriptive study evaluated 96 consecutive infants and toddlers, 6 to 12 months of age (group I) and 13 to 36 months of age (group II) that were brought for regular pediatric visits and introduced to complementary foods. Quantitative 24-h dietary recalls were obtained, and iron intakes quantified for lunch and dinner. Iron bioavailability and absorption were calculated and analyzed by Monsen's and FAO/WHO's methods according to enhancing factors: meat, poultry, and fish (MPF) and vitamin C. RESULTS: There were no significant differences in demographic, clinical, and anthropometric variables between groups. Vitamin C intake was not different between groups, but MPF was significantly lower in group I. The proportion of children with recommended RDA iron intake was lower (p< 0.05) in group I (16 %) than that in group II (47 %). Group I had lesser MPF intake and iron absorption and a higher proportion of children with low bioavailability in lunch and dinner when compared to group II (p< 0.05).CONCLUSIONS: Inclusion of low-cost meat, especially chicken meat and vitamin C-rich foods, at the same meal, both in lunch and dinner, would be of particular advantage to ensure an adequate intake of bioavailable iron during complementary feeding.

Validity of underlying cause of death statistics in Hermosillo, Mexico / Validez de las estadísticas de causa básica de muerte en Hermosillo, México

OBJECTIVE: This paper assesses the quality of the underlying cause of death (COD) statistics in Hermosillo, Mexico in a random sample of 300 in-hospital adult deaths. MATERIAL AND METHODS: A "gold standard" COD, determined by a systematic review of hospital medical charts, was compared to the COD reported by the vital registry system. RESULTS: Overall agreement between the reviewer and original COD at the ICD-10 chapter block was 69.2 percent, with a weighted kappa of 0.62. Agreement varied greatly by ICD-10 chapter. Mutual misclassification among common co-morbidities,such as diabetes mellitus and circulatory disease, minimized the net change in the mortality fraction assigned to each ICD-10 chapter after physician review. CONCLUSIONS: The ICD-10 chapter level underlying COD codes can be used to estimate disease burden in the population. Caution is recommended for use of vital registry statistics in Hermosillo for individual level or disease-specific analyses.

OBJETIVO: Examinar la validez de la causa básica de muerte (CBM) de certificados de defunción de un sistema digital de vigilancia epidemiológica en Hermosillo, México. MATERIAL Y MÉTODOS: Se comparó la CBM originalmente codificada en una muestra aleatoria de 300 certificados de defunción de muertes adultas ocurridas en al año 2005, con la CBM determinada por una revisión de expedientes médicos. RESULTADOS: Se identificó una concordancia global de 69.2 por ciento entre la CBM original y la determinada por la revisión, con un coeficiente de kappa de 0.62. La concordancia varió,con errores de codificación en padecimientos como diabetes mellitus, enfermedades circulatorias y respiratorias y neoplasias. El efecto de esos errores fue compensado por una mutua asignación equivocada en el proceso de codificación de la CBM empleado por el sistema. CONCLUSIONES: Las estadísticas generadas por el sistema examinado pueden usarse con cautela para estimar la carga poblacional de mortalidad en Hermosillo, México.

Prevalence of broncopulmonary and otorhinolaryngologic symptoms in children under investigation for gastroesophageal reflux disease: retrospective analysis / Prevalência de achados broncopulmonares e otorrinolaringológicos em crianças sob investigação de doença do refluxo gastroesofágico: análise retrospectiva

Gastroesophageal reflux disease (GERD) is a common ailment in children, adding up to the evidence that gastroesophageal reflux is an important cofactor in upper airway disorders, especially in the pediatric population. It is very common for it to impact the upper and lower airways. Our goal was to assess the presence of otorhinolaryngological symptoms in children aged between one and twelve years in whom gastroesophageal reflux is suspected. MATERIALS AND METHODS: We assessed data from the charts of patients up to 12 years of age submitted to 24 hour pH measuring of one of two channels, placed at 2 and 5 cm from the LEE in order to confirm the diagnosis of Gastroesophageal Reflux Disease. RESULTS: We studied 143 charts from children who underwent 24 hour pH measuring to investigate GERD; however, only 65 were included. The most prevalent symptoms in the children were bronchopulmonary, found in 89.2 percent, of sinonasal symptoms (72.3 percent), otologic (46.1 percent) and repetition UAW infections (44.6 percent). When we compared the presence of each group of symptoms of the results from the pH measuring, no significant differences were found between the symptoms and the pH measuring results. CONCLUSION: GERD can manifest in different ways and otorhinolaryngological symptoms are frequent in children.

A Doença do Refluxo Gastroesofágico (DRGE) é uma afecção comum na infância, aumentando as evidências de que o refluxo gastroesofágico seja um cofator importante que contribui para as desordens de vias aéreas, principalmente na população pediátrica. É muito comum serem observadas manifestações em vias aéreas superiores e inferiores. Nosso objetivo é avaliar a presença de sintomas otorrinolaringológicos em crianças com idade de um a 12 anos e suspeita de doença do refluxo gastroesofágico. MATERIAIS E MÉTODO: Foram avaliados dados de prontuários de pacientes de até 12 anos submetidos à pHmetria de 24 horas de um ou dois canais, locados a 2 e 5 cm do EEI para confirmação de diagnóstico de Doença do Refluxo Gastroesofágico. RESULTADOS: Foram analisados 143 prontuários de crianças que realizaram pHmetria de 24 horas para investigação de DRGE; porém 65 foram incluídas. Os sintomas mais prevalentes nas crianças eram os broncopulmonares, encontrados em 89,2 por cento, de sintomas nasossinusais (72,3 por cento) , otológicos (46,1 por cento) e de infecções de VAS de repetição (44,6 por cento). Quando comparada a presença de cada grupo de sintomas com o resultado da pHmetria, não foi encontrada diferença significativa entre os sintomas e o resultado da pHmetria. CONCLUSÃO: DRGE pode se manifestar de diversas maneiras e os sintomas otorrinolaringológicos são frequentes em crianças.

Phenotypic and immunohistochemical characterization of sarcoglycanopathies

INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of symptoms. Sarcoglycanopathies, which are a subgroup of the limb-girdle muscular dystrophies, are caused by mutations in sarcoglycan genes. Mutations in these genes cause secondary deficiencies in other proteins, due to the instability of the dystrophin-glycoprotein complex. Therefore, determining the etiology of a given sarcoglycanopathy requires costly and occasionally inaccessible molecular methods. OBJECTIVE: The aim of this study was to identify phenotypic differences among limb-girdle muscular dystrophy patients who were grouped according to the immunohistochemical phenotypes for the four sarcoglycans. METHODS: To identify phenotypic differences among patients with different types of sarcoglycanopathies, a questionnaire was used and the muscle strength and range of motion of nine joints in 45 patients recruited from the Department of Neurology - HC-FMUSP (Clinics Hospital of the Faculty of Medicine of the University of São Paulo) were evaluated. The findings obtained from these analyses were compared with the results of the immunohistochemical findings. RESULTS: The patients were divided into the following groups based on the immunohistochemical findings: a-sarcoglycanopathies (16 patients), b-sarcoglycanopathies (1 patient), y-sarcoglycanopathies (5 patients), and nonsarcoglycanopathies (23 patients). The muscle strength analysis revealed significant differences for both upper and lower limb muscles, particularly the shoulder and hip muscles, as expected. No pattern of joint contractures was found among the four groups analyzed, even within the same family. However, a high frequency of tiptoe gait was observed in patients with a-sarcoglycanopathies, while calf pseudo-hypertrophy was most common in patients with non-sarcoglycanopathies. The a-sarcoglycanopathy patients presented with more severe muscle weakness than did y-sarcoglycanopathy patients. CONCLUSION: The clinical differences observed in this study, which were associated with the immunohistochemical findings, may help to prioritize the mutational investigation of sarcoglycan genes.

Achados histopatológicos gástricos em crianças e adolescentes brasileiros com dispepsia e infecção por Helicobacter pylori / Gastric histopathological findings in Brazilian dyspeptic children and adolescents with helicobacter pylori infection

Avaliar as características histopatológicas da mucosa gástrica, duodenal e esofágica de crianças e adolescentes brasileiros infectados por Helicobacter pylori (H. pylori) e submetidas à endoscopia digestiva alta para investigar dispepsia crônica. As correlações entre variáveis clínicas e histopatológicas também foram analisadas. Foi realizado estudo prospectivo de biópsias do trato gastrointestinal superior (mucosa gástrica, duodenal e esofágica) em crianças e adolescentes de 4 a 17 anos de idade. A análise histopatológica foi realizada com coloração por Hematoxilina & Eosina, as lesões gástricas e duodenais foram classificadas de acordo com o Sistema Sydney atualizado e a intensidade da esofagite foi graduada. O estudo incluiu um grupo de crianças infectadas por H. pylori (Hp+), com resultados positivos para dois testes (teste da urease e histologia) e um grupo de não infectadas (Hp-). Utilizou-se teste de Mann-Whitney, Qui-Quadrado, exato de Fisher e correlação de Spearman, sendo p<0,05 considerado significativo. Foram estudadas 185 crianças dispépticas (idade 9.5±2.7 anos), 63,2% (117/185) do sexo feminino, 96 (51,8%) H. pylori positivos (Hp+) e 89 (48,2%) H. pylori negativos (Hp-). O grupo Hp+ foi significativamente mais velho (9.9±2.8 anos) do que o grupo Hp- (9.0±2.6 anos) (p=0,02). Não houve diferença entre a proporção de sintomas entre os grupos Hp+ e Hp-. Não foram encontradas úlcera gástrica ou duodenal durante o procedimento endoscópico. Gastrite crônica ativa moderada/grave esteve presente em 70,5% das biópsias do antro e em 45,2% das biópsias do corpo no grupo Hp+, com intensidade significativamente maior no antro do que no corpo (p<0,05)...

To evaluate the histopathological features of the gastric, duodenal and esophageal mucosa from Brazilian children and adolescents infected with Helicobacter pylori (H. pylori), submitted to upper gastrointestinal endoscopy to investigate chronic dyspepsia. The correlations between clinical and histopathological variables were also analyzed. A prospective study of biopsies from the upper gastrointestinal tract (gastric, duodenal and esophageal mucosa) was performed on children and adolescents 4 to 17 years-old. The histopathological analysis was performed on Hematoxylin-and-Eosin-stained slides, the gastric and duodenal lesions were graded according to the updated Sydney System and the intensity of esophagitis was recorded. The study included one group of H. pylori infected children (Hp+), with positive results for two tests (rapid urease test and histology) and one uninfected group (Hp-). Mann-Whitney, Chi-square, Fisher exact test and Spearman rank correlation were performed and p<0.05 considered significant. We studied 185 dyspeptic children (age 9.5±2.7 years), 63.2% (117/185) female, 96 (51.8 %) H. pylori positive (Hp+) and 89 (48.2%) H. pylori negative (Hp-). H. pylori-positive were significantly older (9.9±2.8 years) than Hp- (9.0±2.6 years) (p=0.02). There was no difference among the proportion of symptoms between Hp+ and Hp- groups. Gastric or duodenal ulcers were not found during the endoscopic procedure. Moderate/severe chronic active gastritis was present in 70,5% of antrum biopsies and in 45,2% of corpus biopsies in the Hp+ group, with significantly higher grading in antrum than in corpus (p<0.05)...

Comparison of motor strength and function in patients with Duchenne muscular dystrophy with or without steroid therapy / Comparação da força e função motora em pacientes com distrofia muscular de Duchenne com ou sem corticoterapia

OBJECTIVE: To compare muscle strength (MS) and motor function in patients with Duchenne muscular dystrophy (DMD) receiving steroids for different times against the natural evolution of DMD described by Scott et al. METHOD: 90 patients with DMD (aged 5- 12 years), receiving steroids for one to seven years, were evaluated by Medical Research Council Scale (MRC) and Hammersmith motor ability score. The relation between MS and motor abilities measurement from our data and Scott's ones were ascertained statistically. RESULTS: The relation between patient's age and Hammersmith scores revealed decrease of 0.76 point per year for age against decrease of 2.23 points on Scott's study. The relation between MRC scale and patient's age showed decrease of 0.80 point per year of age against decrease of 3.65 points on Scott's study. CONCLUSION: In patients with DMD aged five to 12 years the progression of the disease is delayed by steroids and the motor function is less reduced than muscular strength.

OBJETIVO: Comparar força muscular e função motora de pacientes com distrofia muscular de Duchenne (DMD) em corticoterapia com a evolução natural da doença descrita por Scott et al. MÉTODO: Noventa pacientes, entre 5 e 12 anos de idade, em corticoterapia por um até sete anos, foram avaliados quanto à força muscular (FM) (escala MRC) e função motora (Hammersmith motor ability score). A relação entre idade, FM e função motora e a comparação com o estudo de Scott et al foram determinadas estatisticamente. RESULTADOS: a relação idade/escore Hammersmith diminuiu 0,76 pontos a cada ano de aumento da idade (2,23 pontos na história natural). A relação idade/MRC decresceu 0,80 pontos a cada ano de aumento da idade (3,65 pontos na história natural). CONCLUSÃO: Nos pacientes em corticoterapia, a progressão da doença é mais lenta que na evolução natural em todas as faixas etárias avaliadas, sendo a FM mais comprometida que a função motora.

Prevalência de sobrepeso/obesidade em crianças e adolescentes com constipação crônica funcional / Overweight/obesity prevalence in children and adolescents with chronic functional constipation

OBJETIVO: Avaliar a prevalência do sobrepeso/obesidade em um grupo de crianças com constipação crônica funcional. MÉTODOS: Estudo retrospectivo com 257 crianças de dois a 15 anos com constipação crônica funcional diagnosticada segundo critérios de Roma II, atendidas consecutivamente em clínica terciária de gastroenterologia pediátrica. Informações demográficas, clínicas, diagnósticas e antropométricas foram obtidas de prontuários. O índice de massa corporal (IMC) foi calculado e utilizou-se a referência do Centers for Disease Control para determinar o percentil de IMC para idade e gênero. Crianças com percentil de IMC>85 foram consideradas com sobrepeso/obesidade; as com percentis > 5 e <85 foram classificadas como eutróficas. RESULTADOS: Para as variáveis sociodemográficas e clínicas, não houve diferença estatisticamente significante entre os subgrupos sobrepeso/obesidade e eutrofia. A prevalência de crianças constipadas com sobrepeso/obesidade foi de 24,%. A média dos percentis do subgrupo sobrepeso/obesidade foi 94,4±4,3; a das eutróficas foi 45,3±24,2. A prevalência de sobrepeso/obesidade foi similar em ambos os sexos e grupos etários (<7 anos e >7 anos). CONCLUSÕES: Os subgrupos dos eutróficos e sobrepeso/obesidade foram homogêneos nas características sociodemográficas e clínicas, sugerindo que tais variáveis não influenciaram na prevalência do excesso de peso. A prevalência estimada de sobrepeso/obesidade entre as crianças com constipação crônica funcional está dentro dos valores esperados para a população pediátrica brasileira.

OBJECTIVE: To determine the prevalence of overweight/obesity in a group of children with chronic functional constipation. METHODS: Retrospective chart review of 257 children with chronic functional constipation as defined by Rome II criteria, 2-15 years old, assisted in a tertiary pediatric gastroenterology clinic. Demographic, clinical, diagnostic and anthropometric information was extracted from the charts. Body mass index (BMI) was calculated and The Centers for Disease Control's BMI growth reference was used to determine age and gender-specific BMI percentiles of the children. Overweight/obesity was classified as a BMI of >85th percentile, and euthrophy as BMI >5th and <85th percentile. RESULTS: There was no statistically significant difference for demographics and clinical variables between the subgroups overweight/obesity and eutrophy. In constipated children, prevalence of overweight/obesity was 24.4%. Prevalence of overweight/obesity did not differ between boys and girls or across age groups (<7 years and >7 years). CONCLUSIONS: Demographics and clinical characteristics were similar between the overweight/obese and eutrophic subgroups, which suggests that these characteristics do not influence on the prevalence of overweight/obesity in constipated children. The estimated prevalence of overweight/obesity in this group was similar to the prevalence of age-matched reference for Brazilian children.

Quantification of muscle strength and motor ability in patients with Duchenne muscular dystrophy on steroid therapy

OBJECTIVE: An assessment protocol was applied to quantify and describe muscular strength and motor abilities of 32 patients with Duchenne muscular dystrophy (DMD), aged between 5 and 12 years on steroid therapy. METHOD: Assessments were made monthly for the first six months and with intervals of two months thereafter until the 14-month end point. The tests employed included: the Medical Research Council (MRC) scale; the Hammersmith motor ability score; maximum weight lift; timed rise from floor and nine-meter walk. RESULTS: The results showed that loss of muscular strength and motor abilities were slowed in comparison to that observed in the natural evolution of the disease according to the literature. CONCLUSION: We conclude that a swift and objective assessment may be performed using the MRC scale for lower limbs and trunk, the Hammersmith motor ability score, timed nine-meter walk and weight lifts.

OBJETIVO: Um protocolo de avaliação foi aplicado com o objetivo de quantificar e descrever evolutivamente a força muscular e as habilidades motoras de 32 pacientes com distrofia muscular de Duchenne (DMD), com idades variando de 5 a 12 anos, em corticoterapia. MÉTODO: As avaliações foram aplicadas mensalmente durante os primeiros seis meses e bimensais até completar um período de 14 meses. Os testes empregados foram: escala da "Medical Research Council" (MRC); Hammersmith "motor ability score"; levantamento da carga máxima de peso; cronometragem do tempo para levantar-se do chão e percorrer nove metros. RESULTADOS: Os resultados demonstraram que a perda da força muscular e das habilidades motoras foi mais lenta do que a observada na evolução natural da doença, como descrito na literatura internacional. CONCLUSÃO: Concluímos que uma rápida e objetiva avaliação pode ser executada utilizando a escala MRC para membros inferiores e tronco, Hammersmith motor ability score, cronometragem do tempo para percorrer 9 metros.e o levantamento de peso.

Constipação crônica na infância: quanto estamos consultando em gastroenterologia pediátrica? / Chronic constipation in childhood: how many visits to the pediatric gastroenterologist?

OBJETIVO: Comparar dois períodos em relação ao atendimento de constipação crônica - Tempo A (1992 a 1995) e Tempo B (2002 a 2005), avaliando o número de consultas por problemas gastrintestinais; o número e a porcentagem de consultas de crianças com constipação crônica; e o número de atendimentos de crianças com constipação crônica por período de atendimento. MÉTODOS: No Tempo A, 359 pacientes foram atendidos em um período de quatro horas por semana. No Tempo B, 624 pacientes foram atendidos em três períodos de quatro horas, totalizando 12 horas por semana. RESULTADOS: Houve aumento no número absoluto de pacientes, no número de consultas por problemas gastrintestinais (2,8 vezes) e no número de consultas por constipação crônica (2,6 vezes) no Tempo B, em relação ao Tempo A. Houve manutenção na proporção de consultas por constipação crônica: média de 35,6 por cento no Tempo A e 34,6 por cento no Tempo B. Ocorreu aumento no número de períodos de atendimento no Tempo B (2,9 vezes maior), com igual número de consultas por período de atendimento (média de 17,4 no Tempo A e 16,6 no Tempo B) e de consultas por constipação crônica por período de atendimento (média de 6,1 no Tempo A e 5,5 no Tempo B). CONCLUSÕES: O aumento no número absoluto, e não na proporção de atendimentos por constipação crônica, pode ter ocorrido pela manutenção da prevalência populacional deste distúrbio, gerando demanda contida de encaminhamento pelo pediatra generalista. O despreparo do pediatra generalista para o atendimento deste problema poderia levar a um aumento no número de encaminhamentos aos pediatras especialistas.

OBJECTIVE: To compare two periods (A - 1992-1995 and B - 2002-2005) regarding the number of office visits for chronic constipation, considering the number of visits for gastrointestinal problems; the number and percentage of visits for chronic constipation; and the number of visits for constipation per period of care. METHODS: During period A, 359 patients were assisted for a period of four hours/week. During period B, 624 patients were assisted at three different periods of four hours/week. RESULTS: From A to B, there was an increase in: number of patients assisted, number of visits due to gastrointestinal problems (2.8 times) and number of visits due to constipation (2.6 times). However, the proportion of visits due to constipation was similar in both periods (A - 35.6 percent and B - 34.6 percent). Also, there was a rise in the number of periods for clinical assistance in Time B (2.9 times greater), with an equal mean number of visits per period (A - 17.4 and B - 16.6) and mean visits due to constipation per period (A- 6.1 and B - 5.5). CONCLUSIONS: The increase number, but not proportion, of visits for constipation may have occurred due to a stable population prevalence of this disorder, generating demand beyond the capacity for referral by generalist pediatricians. Also, the lack of skill of the generalist pediatrician to manage this clinical problem could have increased the number of referrals to specialists.

Juvenile dermatomyositis: clinical, laboratorial, histological, therapeutical and evolutive parameters of 35 patients

This study was based on a prospective and a retrospective analysis of 35 patients who met Bohan and Peter criteria for juvenile dermatomyositis diagnosis.The mean follow-up time was three years ten months. Calcinosis was present in five (14.28 percent) patients, cutaneous ulcers in four (11.42 percent), and systemic involvement in nine (27.71 percent) patients. All patients presented alterations in the serum levels of muscle enzymes, and all of them were submitted to muscle biopsy as a diagnostic procedure. Nine (25.71 percent) patients received corticotherapy prior to and 26 (74.28 percent) after the muscle biopsy. Chloroquine, methotrexate, cyclosporine, cyclophosphamide and intravenous immunoglobulin were used in patients with poor response to corticotherapy. Continuation of cutaneous manifestations was observed in 4 (11.43 percent) patients, laboratorial activity in 1 (2.85 percent), cutaneous and laboratorial activities in 3 (8.57 percent). Ten (28.57 percent) patients were out of activity, and 17 (48.57 percent) in remission at study end-point, on March 2002. Two (5.71 percent) patients died

Schwartz-jampel syndrome: report of five cases

We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular disorders at our Institution from 1996 to 1999 with the objective of emphasizing the characteristic dysmorphic phenotype of SJS and its different clinical forms. Two cases presented SJS-type 1A, two had SJS-type 1B and one manifested SJS-type 2. Two boys with 3 and 13 years of age had generalized stiffness and the characteristic facial as well as osteoarticular changes from birth. Other two boys with 11 and 7 years had less marked dysmorphic changes at birth and manifested myotonia, as a limiting factor, during the second year of age. A girl with two months of age had severe myotonia from birth leading to feeding diffuculties. In all cases the diagnosis was based on dysmorphic features, and on electromyographic changes showing continuous electrical activity of muscle fibers. All were treated with carbamazepine, 20-30 mg/Kg since diagnosis. The four boys (all with normal intelligence) improved of myotonia in daily activities, markedly in three, and moderately in one. The girl did not improve and showed global development delay: by the last follow-up (at 20 months of age) she did not sit unsupported, and had mental retardation. Carbamazepine in SJS-type 1 improves general daily performance and psychological status of the patients

King-Denborough syndrome: report of two Brazilian cases

We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian line, pectus excavatum, winging of the scapulae, lumbar lordosis and mild thoracic scoliosis who present congenital hypotonia, slightly delayed motor development, diffuse joint hyperextensibility and mild proximal weakness. The muscle biopsy revealed minimal but identifiable changes represented by size fiber variability, type I fiber predominance and atrophy, perimysial fibrous infiltration and some disarray of the intermyofibrillary network. These cases correspond to the first Brazilian reports of the King-Denborough syndrome and our objective is increasing the awareness of this disorder as these patients are predisposed to developing malignant hyperthermia

Kearns-Sayre Sundrome "plus": classical clinical findings and dystonia

We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes melitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.

Teste de esforço cardiopulmonar na avaliaçäo de doenças musculares / Cardiopulmonary exercise testing for evaluation of muscle diseases

Objetivo: Analisar o teste de esforço cardiopulmonar (TECP) no diagnóstico de miopatias. Métodos: 27 pacientes com miopatia realizaram TECP (protocolo de bicicleta em rampa, máximo, interrompido por sintoma). Resultados: Pacientes distróficos e pacientes com mitocondriopatias mostraram diferenças significativas em relaçao aos controles para as variáveis potência do trabalho desenvolvido (watt) e pico do consumo de oxigênio (VO2máx). Pacientes com mitocondriopatias mostraram diminuiçao significativa do limiar anaeróbio em relaçao aos controles, além de elevaçao dos valores do quociente respiratório (QR) do pico do exercício em relaçao aos demais grupos. Conclusoes: TECP pode ser útil na avaliaçao evolutiva do grau de limitaçao física dos pacientes com miopatia. As variáveis potência do trabalho desenvolvido, VO2 máx, limiar anaeróbio e QR do pico do exercício podem sugerir o diagnóstico de miopatia e seus subtipos, excluindo quadros psicológicos.

Dor e fadiga muscular / Pain and muscle fatigue

Vem sendo bastante freqüente a procura de clínicas especializadas por pacientes com queixa de dor e(ou) fadiga muscular. Esses sintomas sao as duas maneiras pelas quais os músculos respondem a um stress metabólico, seja por trabalho excessivo, seja por incapacidade de produzir a energia necessária para realizar esforços mesmo leves. Na fibromialgia, síndrome miofascial, polimialgia reumática, síndrome de fasciculaçao e câimbra, síndrome do homem rígido e doença de Brody nao há fraqueza objetiva provocada por exercícios e o CPK é normal. Nas síndromes miálgica com internalizaçao de capilares e miálgica com eosinofilia, na fadiga crônica e nas doenças devidas a déficit na produçao de energia muscular econtramos fraqueza muscular induzida por exercícios, além de biópsia muscular alterada e(ou) CPK elevado. Sao feitas referências a cada uma das afecçoes acima relatadas, especialmente àquelas secundárias a alteraçoes do metabolismo das vias produtoras de energia muscular (ATP), quer sejam do metabolismo dos hidratos de carbono, quer da oxidaçao dos ácidos graxos, quer da reaçao desaminase. Sao feitas consideraçoes sobre diagnóstico clínico e provas laboratoriais, com particular ênfase sobre as dosagens do ácido láctico com ou sem isquemia, quociente respiratório e biópsia muscular. Sao feitas ainda referências com relaçao à terapêutica.

Miotonia congênita: relato de sete pacientes / Congenital myotonia: report of 7 patients

Miotonia é o fenômeno da diminuiçao da velocidade de relaxamento muscular após contraçao, estímulo mecânico ou elétrico. As miotonias congênitas sao afecçoes hereditárias e nao apresentam distrofla muscular. Atualmente, a tendência é agrupá-las como doenças de canais iônicos, juntamente com as paralisias periódicas. Foram acompanhados sete pacientes, seis do sexo masculino e um do sexo feminino, com idade entre 16 e 48 anos (média 27 anos) e início dos sintomas entre 1 e 10 anos (média 5 anos), que apresentavam fenômeno miotônico desencadeado por contraçao intensa e hipertrofia muscular global. Três pacientes foram diagnosticados como miotonia generalizada tipo Becker por apresentarem herança autossômica recessiva e/ou episódios transitórios de fraqueza muscular. Dois pacientes correspondiam à miotonia congênita de Thomsen, com padrao de herança autossômica dominante e/ou ausência de episódios de fraqueza ou fatores de piora. Dois pacientes apresentavam miotonia flutuante, piorando com o frio e/ou ingestao de potássio. O diagnóstico clínico foi confirmado através de exames complementares (eletroneuromiografia, biópsia muscular e estudo do DNA). Cada paciente fez uso de diferentes drogas, no sentido de procurar o máximo de melhora da miotonia. Houve cinco relatos de melhora com difenil-hidantoína, um com carbamazepina, três com acetazolamida, um com bloqueador de canal de cálcio, um com beta-adrenérgico, um com tiazídico e nenhum com quinidina/procainamida.