Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study

Abstract Introduction Malignant Hyperthermia (MH) is a pharmacogenetic, hereditary and autosomal dominant syndrome triggered by halogenates/succinylcholine. The In Vitro Contracture Test (IVCT) is the gold standard diagnostic test for MH, and it evaluates abnormal skeletal muscle reactions of susceptible individuals (earlier/greater contracture) when exposed to caffeine/halothane. MH susceptibility episodes and IVCT seem to be related to individual features. Objective To assess variables that correlate with IVCT in Brazilian patients referred for MH investigation due to a history of personal/family MH. Methods We examined IVCTs of 80 patients investigated for MH between 2004‒2019. We recorded clinical data (age, sex, presence of muscle weakness or myopathy with muscle biopsy showing cores, genetic evaluation, IVCT result) and IVCT features (initial and final maximum contraction, caffeine/halothane concentration triggering contracture of 0.2g, contracture at caffeine concentration of 2 and 32 mmoL and at 2% halothane, and contraction after 100 Hz stimulation). Results Mean age of the sample was 35±13.3 years, and most of the subjects were female (n=43 or 54%) and MH susceptible (60%). Of the 20 subjects undergoing genetic investigation, 65% showed variants in RYR1/CACNA1S genes. We found no difference between the positive and negative IVCT groups regarding age, sex, number of probands, presence of muscle weakness or myopathy with muscle biopsy showing cores. Regression analysis revealed that the best predictors of positive IVCT were male sex (+12%), absence of muscle weakness (+20%), and personal MH background (+17%). Conclusions Positive IVCT results have been correlated to male probands, in accordance with early publications. Furthermore, normal muscle strength has been confirmed as a significant predictor of positive IVCT while investigating suspected MH cases.

A family with early onset myopathy caused by MEGF10 gene defect and literature review / 中华儿科杂志

Objective: To summarize the genetic and clinical phenotypic characteristics of patients with early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) caused by multiple epidermal growth factor 10 (MEGF10) gene defect. Methods: The clinical data of 3 infants in 1 family with EMARDD caused by MEGF10 gene defect diagnosed in the Department of Neonatology, Xiamen Children's Hospital in April 2022 were analyzed retrospectively. Using "multiple epidermal growth factor 10" "myopathy" or "MEGF10" "myopathy" as the key words, and searching the relevant literature reports of CNKI, Wanfang Database and PubMed Database from the establishment of the database to September 2022. Combined with this family, the main clinical information and genotype characteristics of EMARDD patients caused by MEGF10 gene defect were summarized. Results: The proband, male, first infant of monozygotic twins, was admitted to hospital 7 days after birth "due to intermittent cyanosis with weak sucking". The infant had dysphagia accompanied with cyanosis of lips during feeding and crying after birth. Physical examination on admission revealed reduced muscle tone of the extremities, flexion of the second to fifth fingers of both hands with limited passive extension of proximal interphalangeal joints, and limited abduction of both hips. He was diagnosed as dysphagia of newborn, congenital dactyly. After admission, he was given limb and oral rehabilitation training, breathing gradually became stable and oral feeding fully allowed, and discharged along with improvement. The younger brother of the proband was admitted to the hospital at the same time, and his clinical manifestations, diagnosis and treatment process were the same as those of the proband. The elder brother of the proband died at the age of 8 months due to the delayed growth and development, severe malnutrition, hypotonia, single palmoclal crease and weak crying. A whole exon sequencing of the family was done, and found that the 3 children were all compound heterozygous variations at the same site of MEGF10 gene, with 2 splicing variants (c.218+1G>A, c.2362+1G>A), which came from the father and mother respectively, and the new variation was consistent with the autosomal recessive inheritance model. Three children were finally diagnosed as EMARDD caused by MEGF10 gene defect. There are 0 Chinese literature and 18 English literature that met the search conditions. Totally 17 families including 28 patients were reported. There were 31 EMARDD patients including 3 infants from this family. Among them, there were 13 males and 18 females. The reported age of onset ranged from 0 to 61 years. Except for 5 patients with incomplete clinical data, 26 patients were included in the analysis of phenotypic and genotypic characteristics. The clinical features were mainly dyspnea (25 cases), scoliosis (22 cases), feeding difficulties (21 cases), myasthenia (20 cases), and other features including areflexia (16 cases) and cleft palate or high palatal arch(15 cases). Muscle biopsy showed non-specific changes, with histological characteristics ranging from slight muscle fiber size variation to minicores change which was seen in all 5 patients with at least 1 missense mutation of allele. In addition, the adult onset was found in patients with at least 1 missense variant of MEGF10 gene. Conclusions: MEGF10 gene defect related EMARDD can occur in the neonatal period, and the main clinical features are muscle weakness, breathing and feeding difficulties. Patients with myopathy who have at least 1 missense mutation and muscle biopsy indicating minicores change may be relatively mild.

Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1 / 中华儿科杂志

Objective: To investigate the clinical features and gene variation characteristics of children with dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene associated spinal muscular atrophy with lower extremity predominant (SMALED) 1. Methods: The clinical data of 4 SMALED1 children admitted to Peking University First Hospital from December 2018 to May 2021, who were found to have pathogenic variation of DYNC1H1 gene through genetic testing, except for other genes known to be related to motor retardation, were retrospectively summarized to analyze the phenotype and genotype characteristics. Results: There were 3 males and 1 female. The age of onset was 1 year, 1 day, 1 day and 4 months, respectively. The age of diagnosis was 4 years and 10 months, 9 months, 5 years and 9 months, and 3 years and 1 month, respectively. The clinical manifestations were muscle weakness and muscular atrophy of lower limbs, 2 cases with foot deformity, 1 case with early non progressive joint contracture, 1 case with hip dislocation and 1 case with mental retardation. De novo heterozygous missense variations in DYNC1H1 gene were found in all 4 children. According to the rating of American College of medical genetics and genomics, they were all possible pathogenic and pathogenic variations, with p.R598C, p.P776L, p.Y1109D variations had been reported, and p.I1086R variation had not been reported. Conclusions: For those with unexplained lower limb muscle weakness, muscle atrophy, joint contracture and foot deformity, upper limb motor ability related retention, with or without mental retardation, as well as the motor ability progresses slowly, it is necessary to consider the possibility of SMALED1 and the detection of DYNC1H1 gene when necessary.

Traditional Chinese therapy in the treatment of ICU-acquired weakness: a Meta-analysis / 中华危重病急救医学

OBJECTIVE@#To systematically assess the efficacy of traditional Chinese therapy in the treatment of ICU-acquired weakness (ICU-AW).@*METHODS@#PubMed, Cochrane Library, Embase, Web of Science, CNKI, Wanfang, VIP were retrieved by computer and were used to collect a randomized controlled trials (RCT) of traditional Chinese therapy for ICU-AW. The retrieval time was from databases establishment to December 2021. After 2 researchers independently screened the literature, extracted data and evaluated the risk of bias included in the study, and RevMan 5.4 software was used for Meta-analysis.@*RESULTS@#334 articles were selected, totally 13 clinical studies and 982 patients were included, including 562 in the trial group and 420 in the control group. Meta-analysis results showed that traditional Chinese therapy could improve clinical efficacy of ICU-AW patients [relative risk (RR) = 1.35, 95% confidence interval (95%CI) was 1.20 to 1.52, P < 0.000 01], improve the muscle strength [Medical Research Council score (MRC score); standardized mean difference (SMD) = 1.00, 95%CI was 0.67 to 1.33, P < 0.000 01], improve daily life ability [modified Barthel index score (MBI score); SMD = 1.67, 95%CI was 1.20 to 2.14, P < 0.000 01], shorten mechanical ventilation time (SMD = -1.47, 95%CI was -1.84 to -1.09, P < 0.000 01), reduce the length of intensive care unit (ICU) stay [mean difference (MD) = -3.28, 95%CI was -3.89 to -2.68, P < 0.000 01], reduce the total hospitalization time (MD = -4.71, 95%CI was -5.90 to -3.53, P < 0.000 01), reduce tumor necrosis factor-α (TNF-α; MD = -4.55, 95%CI was -6.39 to -2.70, P < 0.000 01) and interleukin-6 (IL-6; MD = -5.07, 95%CI was -6.36 to -3.77, P < 0.000 01). There was no obvious advantage in reducing the severity of the disease [acute physiology and chronic health evaluation II (APACHE II; SMD = -0.45, 95%CI was -0.92 to 0.03, P = 0.07).@*CONCLUSIONS@#Based on the current research, traditional Chinese therapy can improve the clinical efficacy of ICU-AW, improve muscle strength and daily life ability, shorten mechanical ventilation, the length of ICU stay and total hospitalization time, reduce TNF-α and IL-6. But traditional Chinese therapy can not reduce the overall disease severity.

Diagnóstico tardío de atrofia muscular espinal en paciente con síndrome de Down / Late diagnosis of spinal muscular atrophy in a patient with Down syndrome

El síndrome de Down (SD) es la anomalía cromosómica más frecuente entre los recién nacidos vivos. La atrofia muscular espinal (AME), por su parte, es una enfermedad neuromuscular caracterizada por la degeneración progresiva de las motoneuronas del asta anterior de la médula espinal que produce atrofia muscular, debilidad y parálisis. Presentamos el caso de una niña de 6 años con síndrome de Down derivada a nuestro centro para estudio por cuadro de debilidad muscular generalizada de evolución crónica con falta de adquisición de la marcha. Realizamos una revisión bibliográfica enfocándonos en el compromiso neurológico esperable en el síndrome de Down, la evolución de los hitos del desarrollo motor grueso estipulado para este grupo de pacientes y en los hallazgos que deben sugerir la presencia de una enfermedad neuromuscular.

A case of a 6-year-old girl with Down's syndrome is presented. She was referred to our center due to a history of generalized muscle weakness of chronic evolution, associated to her inability to walk. Her mother claimed that the girl's muscle weakness always called her attention as well as the difficulties to the development of motor skills shown by her daughter compared to other children, whether they were healthy or with Down's syndrome. There was information in her medical record and physical exam that strongly suggested the possibility of suffering a neuromuscular disorder. We asked for a molecular study that confirmed the spinal muscular atrophy diagnosis. We carried out a bibliographical revision focusing on the expected neurological impairment in Down's syndrome, the retardation of the gross motor skills development determined for this kind of patients and on the findings that must suggest a neuromuscular disorder.

Calidad de vida y funcionalidad en sobrevivientes de cuidados intensivos: Una revisión exploratoria / Quality of life and functionality of intensive care survivors: An exploratory review / Qualidade de vida e funcionalidade em sobreviventes de terapia intensiva: uma revisão exploratória

Introducción: La calidad de vida en pacientes críticos que sobreviven al tratamiento en unidades de cuidados intensivos es inferior al de la población general. La condición de salud basal y la severidad de la condición clínica al ingreso a terapia intensiva son factores de riesgo para la calidad de vida y la funcionalidad. Objetivo: Analizar el nivel de conocimiento en la calidad de vida y la funcionalidad de los sobrevivientes de cuidados intensivos. Materiales y métodos: Se realizó una revisión exploratoria en las bases de datos: Scielo, PubMed, Science Direct, ProQuest, Redalyc, Dialnet, OVID, Scopus, publicados entre enero del año 2010 y mayo del año 2020. El estudio se desarrolló según la estructura de la Metodología PRISMA. Se revisaron y analizaron los textos completos que cumplían los criterios de inclusión para la selección final de los artículos. Resultados: De 1814 artículo seleccionados, se eligieron 65 artículos que describen la calidad de vida y la funcionalidad en pacientes después de cuidados intensivos, y finalmente, 16 artículos son incluidos, donde se analizaron las características de los artículos, las características de la población estudiada, y las variables de análisis sobre la evaluación de la calidad de vida y la funcionalidad en los sobrevivientes después cuidados intensivos. Conclusión: Los estudios sobre calidad de vida y funcionalidad en sobrevivientes de cuidados intensivos se realizaron en mayor proporción en Europa en los años 2010 a 2016. Con estudios observacionales prospectivos que correlacionan los factores que determinan la salud mental y física después del egreso de cuidados intensivos. Se aplicaron múltiples escalas siendo las más utilizadas SF-36 y el EQ-5D para evaluar la calidad de vida y del índice de Barthel para determinar el estado de funcionalidad en los egresados de cuidados intensivos. El SF-36 y el índice de Barthel reportaron una afectación en la calidad de vida y en la funcionalidad en la población sobreviviente de cuidados intensivos.

Introduction:The quality of life of critically ill patients who survive treatment in intensive care units is lower than that of the general population. Baseline health status and severity of clinical condition on admission to intensive care are risk factors for quality of life and functionality. Objetive: To analyze the level of knowledge on quality of life and functionality of intensive care survivors. Materials and Methods: An exploratory review was conducted by searching studies published between January 2010 and May 2020 in Scielo, PubMed, Science Direct, ProQuest, Redalyc, Dialnet, OVID, and Scopus databases. The study was conducted according to the PRISMA statement. Full texts that met the inclusion criteria were reviewed and analyzed in the final selection of articles. Results: Of 1814 articles identified, 65 articles describing the quality of life and functionality in post-intensive care patients were screened. Finally, 16 were included to analyze the article's characteristics, population characteristics, and variables of analysis for assessing the quality of life and functionality of post-intensive care survivors. Conclusions: Studies on quality of life and functionality in intensive care survivors were conducted mainly in Europe between 2010 and 2016. They are primarily prospective observational studies correlating factors determining mental and physical health after intensive care discharge. Multiple scales were applied; the most used were the SF-36 and the EQ-5D to assess the quality of life and the Barthel Index to determine functional status in patients discharged from intensive care. The SF- 36 and Barthel index reported impaired quality of life and functionality of the intensive care survivor population.

Introdução: A qualidade de vida em pacientes críticos que sobrevivem ao tratamento em unidades de terapia intensiva é inferior à da população geral. A condição de saúde de base e a gravidade do quadro clínico na admissão à terapia intensiva são fatores de risco para qualidade de vida e funcionalidade. Objetivo: Analisar o nível de conhecimento sobre qualidade de vida e funcionalidade de sobreviventes de terapia intensiva. Materiais e Métodos: Foi realizada uma revisão exploratória nas seguintes bases de dados: Scielo, PubMed, Science Direct, ProQuest, Redalyc, Dialnet, OVID, Scopus, publicadas entre janeiro de 2010 e maio de 2020. O estudo foi desenvolvido de acordo com a estrutura da Metodologia PRISM. Os textos completos que atenderam aos critérios de inclusão foram revisados e analisados para a seleção final dos artigos. Resultados: Dos 1.814 artigos selecionados, foram escolhidos 65 artigos que descrevem a qualidade de vida e funcionalidade em pacientes após terapia intensiva e, por fim, são incluídos 16 artigos, onde são apresentadas as características dos artigos, as características da população estudada e as variáveis de análise sobre a avaliação da qualidade de vida e funcionalidade em sobreviventes após terapia intensiva. Conclusões: Estudos sobre qualidade de vida e funcionalidade em sobreviventes de terapia intensiva foram realizados em maior proporção na Europa nos anos de 2010 a 2016. Com estudos observacionais prospectivos que correlacionam os fatores que determinam a saúde mental e física após a alta da terapia intensiva. Foram aplicadas múltiplas escalas, sendo as mais utilizadas o SF-36 e o EQ-5D para avaliar a qualidade de vida e o índice de Barthel para determinar o estado de funcionalidade em egressos de terapia intensiva. O SF-36 e o índice de Barthel relataram impacto na qualidade de vida e funcionalidade na população sobrevivente de terapia intensiva.

Neuropatía motora multifocal: ¿cómo diagnosticar un caballo de Troya? / Multifocal motor neuropathy: how to diagnose a trojan horse?

Introducción: La neuropatía motora multifocal con bloqueos de la conducción (NMMBC) es una enfermedad crónica inmunomediada, con un compromiso exclusivo de los nervios motores. Es importante diferenciarla de otras enfermedades que cursan con afectación motora, debido a que ésta es una enfermedad tratable. Cuadro clínico: Paciente varón de 56 años, con compromiso motor progresivo en el miembro superior del lado derecho desde el año 2016. El examen neurofisiológico demostró la presencia de múltiples bloqueos de la conducción nerviosa. Los anticuerpos antigangliósidos fueron negativos. Se indicó tratamiento con inmunoglobulina endovenosa en varios ciclos, con mejoría progresiva del cuadro. Discusión: Se discute el plan diagnóstico clínico y electrofisiológico, los diagnósticos diferenciales, las hipótesis fisiopatológicas y el tratamiento de esta enfermedad de rara ocurrencia

Introduction: Multifocal motor neuropathy with conduction blocks (NMMBC) is a chronic immunemediated disease that exclusively involves the motor nerves. It is important to differentiate it from other diseases that present with motor involvement, because this is a treatable disease. Clinical picture: A 56-year-old male patient, with progressive motor involvement in the right upper limb since 2016. A neurophysiological examination revealed multiple nerve conduction blocks. Antiganglioside antibodies were negative. Treatment with intravenous immunoglobulin was indicated for several cycles with progressive improvement of the condition. Discussion: Clinical and electrophysiological diagnostic plans, differential diagnoses, pathophysiological hypotheses, and treatment of this rare disease are discussed

Polimiositis: evolución de 4 años y agudización en 2019, caso masculino en Popayán, Cauca / Polymyositis: evolution of 4-years and agudizacion in 2019, male case in Popayán, Cauca

Resumen La polimiositis es una miopatía autoinmune que causa cada año a nivel mundial 4 casos por cada millón de habitantes, es de diagnóstico clínico y necesita tratamiento rápido y agresivo porque puede llevar a desenlaces fatales. Esta patología es infrecuente en hombres con una proporción mujer/hombre de 2.5:1, por lo que el objetivo del artículo fue describir y comparar con la literatura el caso de un paciente masculino con polimiositis quien debutó con debilidad muscular y dolor poliarticular de 20 días de evolución, con valores de creatina quinasa de 24000 UI/L, asociado a pérdida de peso y respondiendo adecuadamente al tratamiento médico brindado en el momento. Después de 3 años asintomático, sufrió una agudización que fue manejada con medicamentos de primera línea, pero sin mejoría, por lo que requirió metilprednisolona oral a altas dosis e inmunomoduladores. En ningún momento presentó compromiso de órganos vitales, actualmente es sintomático y se encuentra en manejo médico. MÉD.UIS.2022;35(1):49-56.

Abstract Polymyositis is an autoimmune myopathy and each year it causes 4 cases per million in the worldwide population, it is clinically diagnosed and needs rapid and aggressive treatment because it can lead to fatal outcomes. This pathology is infrequent in men, with a proportion women/men 2.5:1, the objective of the article was to describe and compare with the literature the case of a male patient with polymyositis, who presented with muscle weakness and polyarticular pain of 20 days of evolution, with Creatine kinase values of 24,000 IU/L, associated with weight loss, and responding adequately to the medical treatment provided at the time. After 3 years asymptomatic, he suffered an acute phase that was managed with first-line medications but without improvement, for which he required oral methylprednisolone at high doses and inmunomodulators. At no time did he present vital organ involvement, he is currently symptomatic and is under medical management. MÉD.UIS.2022;35(1):49-56.

Caracterização da força e da função muscular nas disferlinopatias em amostra brasileira / Characterization of muscle strength and function in dysferlinopathy in a Brazilian sample

Estudo de caracterização da força e da função muscular nas disferlinopatias para estabelecer biomarcadores de habilidades motoras com amostra de 40 pacientes, tendo sido avaliados força muscular (Medical Research Council - MRC), percentual de MRC, tempo de execução para deambular e escores nas Escalas de Vignos, Egen Klassifikation, Avaliação Funcional para Distrofia Muscular de Duchenne (FES-DMD) e North Star Ambulatory Assessment adaptada. Prevalência da disferlinopatia de 25,5% na amostra total de distrofias (1340), idade média de 36,5 anos, 52,5% do sexo masculino e 75% deambuladores. Músculos mais fracos: abdominal, glúteos, íliopsoas, isquiotibial, quadríceps femoral, tibial anterior e deltoide médio. Correlação forte entre MRC e tempo para deambular (r = 0,77) e, muito forte da MRC distal de membros inferiores com aNSAA (r = 0,90). Interação da MRC dos membros superiores e inferiores nos segmentos proximal e distal (p < 0,001), sendo mais evidente em membros superiores que inferiores. Taxa variável de progressão da doença com 60% dos pacientes moderadamente ou gravemente afetados, com mais de 12 anos de doença. Estudo mostra que padrão de fraqueza muscular dos brasileiros com disferlinopatia é proximal e distal dos MMII, com comprometimento associado da região proximal dos MMSS, além de elucidar as habilidades motoras em relação ao processo de locomoção e disfunções cardiorrespiratórias. (AU).

Impact of mechanical ventilation time on functional capacity and muscular strength of patients under intensive care / Impacto do tempo de ventilação mecânica na capacidade funcional e força muscular de pacientes em terapia intensiva

Abstract Introduction: A prolonged assisted ventilation (AV) period might induce complications. Objective: To compare functional capacities and muscle strength of patients under AV. Methods: This is a prospective cohort observational study. The patients selected were under mechanical ventilation in any given moment, and they were evaluated only at the time of discharge from the intensive care unit (ICU). The convenience sample of 103 was selected and divided into a group with up to six days of AV (G6) and another with seven days or more of AV (G7). The protocol proposed was: application of the Medical Research Council (MRC) scale, dynamometry, Barthel index, ability to ambulate at ICU discharge. A call was made to the patients six and 12 months after hospital discharge for the application of the Barthel index. Results: We verified that G6 patients obtained better muscular strength measured through right 14 (8-30) and left 18 (8-26) dynamometry and MRC scale 48 (44-56). Only seven (14%) patients from the G7 group were able to ambulate. G7 patients showed greater functional loss at hospital discharge 32 (15-60). After one year of hospital discharge, both groups had recovered their functional capacity 100 (100-100). Conclusion: When evaluating the process of AV, it is possible to conclude that the longer the ventilator is used, the greater the loss of strength and functionality. In addition, there is a significant recovery of functionality after one year of hospital discharge.

Resumo Introdução: Um período prolongado de ventilação assistida (VA) pode induzir complicações. Objetivo: Comparar as capacidades funcionais e a força muscular de pacientes sob VA. Métodos: Trata-se de um estudo observacional de coorte prospectivo. Os pacientes selecionados encontravam-se em ventilação mecânica em qualquer momento, sendo avaliados apenas no momento da alta da unidade de terapia intensiva (UTI). A amostra de conveniência de 103 foi selecionada e dividida em um grupo com até seis dias de VA (G6) e outro com sete dias ou mais de VA (G7). O protocolo proposto foi: aplicação da escala MRC, dinamometria, índice de Barthel, capacidade de deambulação na alta da UTI. Foi feito um chamado aos pacientes seis e 12 meses após a alta hospitalar para aplicação do índice de Barthel. Resultados: Verificamos que os pacientes do G6 obtiveram melhor força muscular medida através da dinamometria direita 14 (8-30) e esquerda 18 (8-26) e escala do MRC 48 (44-56). Apenas sete (14%) pacientes do grupo G7 conseguiram deambular. Os pacientes do G7 apresentaram maior perda funcional na alta hospitalar 32 (15-60). Após um ano da alta hospitalar, ambos os grupos recuperaram sua capacidade funcional 100 (100-100). Conclusão: Ao avaliar o processo de AV, é possível concluir que quanto maior o tempo de uso do ventilador, maior a perda de força e funcionalidade. Além disso, há uma recuperação significativa da funcionalidade após um ano da alta hospitalar.

Anthropometric indicators as predictors of dynapenia in postmenopausal women

Abstract Aim: Anthropometry represents an alternative to the evaluation of nutritional status and screening of events related to muscle fitness. Therefore, this study aimed to compare anthropometric indicators of postmenopausal women with and without dynapenia and to identify the predictive capacity of these indicators to screen the respective outcome in this population. Methods: Cross-sectional epidemiological study, conducted with postmenopausal women. Dynapenia was diagnosed by handgrip strength < 20 kgf. Arm (AC), abdominal (AbC), hip (HC) and calf circumferences (CC), triceps, biceps, subscapular, supraspinatus and thigh skinfolds were analyzed. Body Mass Index, Conicity Index (CI), Body Adiposity Index (BAI), Waist to Hip and Waist to Height Ratio (WHtR), Corrected Arm Muscle Area (CAMA) and Arm Muscle Circumference (AMC) were calculated. Results: A total of 273 women participated in the study. The BAI, WHtR, and CI did not present significant differences between the groups. For the other indicators, the dynapenic group obtained significantly lower values compared to the non-dynapenic. AC was the indicator with the highest sensitivity to screen for postmenopausal dynapenia (79.8%). While CAMA and AMC were the indicators with the best specificity (86.2%). However, CC showed the best balance between sensitivity (67.5%) and specificity (63.0%). Conclusion: The indicators AC, CAMA, and/or the AMC can be used together, or CC alone, to predict postmenopausal women with dynapenia. Therefore, these indicators can be used as important epidemiological tools to improve women's health surveillance actions.

IL-6 levels are associated with clinical status in patients with Myasthenia Gravis / Os níveis de IL-6 estão associados com o status clínico de pacientes com Miastenia Gravis

BACKGROUND: Myasthenia gravis (MG) is an autoimmune disease marked by fluctuating course of muscle weakness. OBJECTIVES: The current study was designed to evaluate plasma levels of cytokines (IL-2, IL-4, IL-6, IL-10, TNF, IFN-γ, and IL17A) in patients with MG and controls and to investigate whether cytokines levels are associated with clinical parameters. This study was conducted at the Neuromuscular Diseases Outpatient Clinic, Hospital das Clínicas, Universidade Federal de Minas Gerais (UFMG), Brazil. METHODS: Peripheral blood was drawn, and plasma levels of cytokines were measured by cytometric bead array (CBA) in 80 treated patients with MG and 50 controls. The MG Composite (MGC) was used to evaluate muscle weakness and severity of typical motor symptoms of MG. RESULTS: Patients with MG undergoing treatment exhibit lower levels of all evaluated cytokines compared to controls. There was a negative correlation between IL-6 levels and the MG Composite score, indicating that higher levels of IL-6 were associated with better control of the disease. CONCLUSION: This exploratory study suggests that IL-6 is associated with MG clinical status, as assessed by the MGC.

INTRODUÇÃO: A Miastenia Gravis (MG) é uma doença autoimune caracterizada por fraqueza muscular flutuante. OBJETIVOS: avaliar os níveis plasmáticos de citocinas (IL-2, IL-4, IL-6, IL-10, TNF, IFN-γ, e IL-17A) em pacientes com MG e controles e investigar se essas citocinas estão associadas com parâmetros clínicos. Este estudo foi conduzido no ambulatório de doenças neuromusculares do Hospital das Clínicas, Universidade Federal de Minas Gerais (UFMG), Brasil. MÉTODOS: Foi coletado sangue periféricos e os níveis plasmáticos das citocinas foram medidos por citometria em 80 pacientes com MG tratados e em 50 controles. O MG composite (MGC) foi utilizado para avaliar a fraqueza muscular e a gravidade dos sintomas motores típicos da MG. RESULTADOS: Os pacientes com MG em tratamento apresentaram menores níveis de todas as citocinas avaliadas comparados ao controle. Houve uma correlação negativa entre os níveis de IL-6 e o MGC, indicando que altos níveis de IL-6 estão associados com melhor controle da doença. CONCLUSÃO: este estudo exploratório sugere que a IL-6 está associada com o status clínico da MG, quando avaliado pelo MGC.

Fuerza de prensión manual y calidad de vida en personas mayores autovalentes / Hand grip strength and quality of life in functional elderly

Introducción: Durante el envejecimiento se observa involución de algunos sistemas corporales. Entre estos cambios, los que afectan al sistema osteomuscular como la sarcopenia y la debilidad muscular, pueden alterar el desarrollo de actividades de la vida diaria, y por lo tanto, afectar la calidad de vida relacionada con la salud. Objetivo: Determinar la relación entre la fuerza de prensión manual y la calidad de vida relacionada con la salud en personas mayores. Métodos: Estudio descriptivo, correlacional. Evaluó 79 personas mayores (63 mujeres y 16 hombres) entre 65 y 78 años, de tres organizaciones sociales de la ciudad de Talca, Chile, seleccionados a través de un muestreo no probabilístico por conveniencia. Para medir la fuerza de prensión manual se utilizó un dinamómetro de mano y el cuestionario SF-36 fue usado para valorar la calidad de vida relacionada con la salud. Resultados: Se observaron relaciones significativas entre la fuerza de prensión manual y las dimensiones de la calidad de vida función física (p = 0,03; r = 0,76), dolor corporal (p = 0,01; r = 0,44) y salud general (p = 0,05; r = 0,48). Conclusiones: Existe relación entre la fuerza de prensión manual y tres dimensiones de la calidad de vida relacionada con la salud de personas mayores. Estos hallazgos corroboran la relevancia de evaluar la fuerza muscular en personas mayores como un marcador de salud y calidad de vida en estas(AU)

Introduction: During aging, involution of some body systems is observed. Among these changes, those that affect the musculoskeletal system such as sarcopenia and muscle weakness can alter the development of activities of daily life, and therefore affect health-related quality of life. Objective: to determine the relationship between hand grip strength and quality of life in elderly. Methods: Cross-sectional study. A total of 79 elderly (63 women and 13 men) between 65 and 78 years of age from three social organizations of Talca, Chile was included. A non-probabilistic convenience sample was used. To measure manual grip strength and the SF-36 questionnaire was used. Results: Significant relationships between hand grip strength and dimensions of quality of life, physical function (p = 0,03; r = 0,76), body pain (p = 0,01; r = 0,44) and general health (p = 0,05; r = 0,48) were observed. Conclusions: There is a relationship between hand grip strength and three measurements of quality of life in elderly. These findings corroborate the relevance of evaluating muscle strength in older people as a marker of health and quality of life in elderly(AU)

Inspiratory Muscle Weakness is Related to Poor Short-Term Outcomes for Heart Transplantation

Abstract Introduction: In heart transplantation (HT) recipients, several factors are critical to promptly adopting appropriate rehabilitation strategies and may be important to predict outcomes way after surgery. This study aimed to determine preoperative patient-related risk factors that could adversely affect the postoperative clinical course of patients undergoing HT. Methods: Twenty-one hospitalized patients with heart failure undergoing HT were evaluated according to respiratory muscle strength and functional capacity before HT. Mechanical ventilation (MV) time, reintubation rate, and intensive care unit (ICU) length of stay were recorded, and assessed postoperatively. Results: Inspiratory muscle strength as absolute and percentpredicted values were strongly correlated with MV time (r=-0.61 and r=-0.70, respectively, at P<0.001). Concerning ICU length of stay, only maximal inspiratory pressure (MIP) absolute and percent-predicted values were significantly associated. The absolute -MIP- was significantly negatively correlated with ICU length of stay (r=-0.58 at P=0.006) and the percent-predicted MIP was also significantly negatively correlated with ICU length of stay (r=-0.68 at P=0.0007). No associations were observed between preoperative functional capacity, age, sex, and clinical characteristics and MV time and ICU length of stay in the cohort included in this study. Patients with respiratory muscle weakness had a higher prevalence of prolonged MV, reintubation, and delayed ICU length of stay. Conclusion: An impairment of preoperative MIP was associated with poorer short-term outcomes following HT. As such, inspiratory muscle strength is an important clinical preoperative marker in patients undergoing HT.

Paralisia Periódica Hipocalêmica Tireotóxica: relato de caso / Thyrotoxic Hypokalemic Periodic Paralysis: case report

A paralisia periódica hipocalêmica tireotóxica é uma complicação rara do hipertireoidismo. Caracteriza-se por episódios de fraqueza muscular recorrente, associado à tireotoxicose e hipocalemia. Ocorre frequentemente em pacientes do sexo masculino e de origem asiática. Nesse contexto, o objetivo deste estudo é descrever o relato de caso de um paciente acometido por paralisia periódica hipocalêmica tireotóxica com redução acentuada da qualidade de vida e internações recorrentes devido a quadro agudo de tetraparesia flácida ascendente associado a hipocalemia grave por não adesão ao tratamento do hipertireoidismo. A paralisia periódica hipocalêmica tireotóxica apresenta evolução favorável quando reconhecida e tratada com controle inicial dos sintomas para normalização sérica do potássio e posterior resolução do quadro tireotóxico.

Thyrotoxic hypokalemic periodic paralysis is a rare complication of hyperthyroidism. The issue has been characterized by episodes of recurrent muscle weakness associated with thyrotoxicosis and hypokalemia. It occurs most often in male patients of Asian origin. This study aims on describing the case report of a patient affected by thyrotoxic hypokalemic periodic paralysis with intense reduction in life quality and recurrent hospitalizations due to ascending acute flaccid tetraparesis associated with severe hypokalemia due to non-adherence to treatment of hyperthyroidism. Thyrotoxic hypokalemic periodic paralysis presents a favorable evolution when identified and treated with initial symptom control for serum potassium normalization and subsequent resolution of the thyroid toxicity.

Clinical features of children with Guillain-Barré syndrome and the significance of Brighton criteria / 中国当代儿科杂志

OBJECTIVE@#To study the clinical features of children with Guillain-Barré syndrome (GBS) and the significance of Brighton criteria in childhood GBS.@*METHODS@#A retrospective analysis was performed on the medical data of 72 children with GBS. Brighton criteria were used for the grading of diagnostic certainty (level 1 as the highest level, and level 4 as the lowest level). A Spearman's rank correlation analysis was used to evaluate the correlation of auxiliary examinations with the level of diagnostic certainty of Brighton criteria.@*RESULTS@#A total of 72 children with GBS were enrolled, with a mean age of onset of (98±32) months. All children (100%, 72/72) had weakness of bilateral limbs and disappearance or reduction of tendon reflex, and limb weakness reached the highest level of severity within 4 weeks. Of all the 72 children, 68 (94%) had positive results of neural electrophysiological examination and 51 (71%) had positive results of cerebrospinal fluid (CSF) examination, and the positive rate of neural electrophysiological examination was significantly higher than that of CSF examination (@*CONCLUSIONS@#Most of the children with GBS meet Brighton criteria level 1, and the positive results of CSF examination and neural electrophysiological examination play an important role in improving the level of diagnostic certainty of Brighton criteria. Neural electrophysiological examination has a higher positive rate than CSF examination in the early stage of the disease.

Respiratory muscle impairment evaluated with mep/mip ratio in children and adolescents with chronic respiratory disease / Fraqueza muscular respiratória avaliada por meio da relação pemax/pimax em crianças com doença respiratória crônica

ABSTRACT Objective: To evaluate the strength of respiratory muscles and to compare maximum inspiratory (MIP) and expiratory (MEP) pressure and MEP/MIP ratio between patients with chronic respiratory diseases and healthy individuals. Methods: Case-control study. Individuals with neuromuscular disease and post-infectious bronchiolitis obliterans were considered. In addition, they were also matched according to anthropometric and demographic characteristics with healthy children and adolescents. MIP, MEP in the three groups, and pulmonary function only in patients with chronic respiratory diseases were recorded. Results: A total of 52 subjects with CRD (25 with neuromuscular disease, and 27 with post-infectious bronchiolitis obliterans) and 85 healthy individuals were included, with an average age of 11.3±2.1 years. Patients with neuromuscular disease and post-infectious bronchiolitis obliterans presented lower MIP and MEP when compared with healthy individuals, although MEP/MIP ratio was lower in patients with neuromuscular disease (0.87±0.3) and higher in patients with post-infectious bronchiolitis obliterans (1.1±0.3) compared to the healthy group (0.97±0.2). Only in patients with neuromuscular disease a negative correlation was observed between MEP/MIP ratio and age (r=-0.50; p=0.01). Conclusions: Differences in the pattern of muscular weakness between patients with chronic respiratory diseases were observed. In patients with neuromuscular disease, a decrease in the MEP/MIP ratio depending on MIP was verified; and in those patients with post-infectious bronchiolitis obliterans, an increase in the MEP/MIP ratio depending on MIP was also observed.

RESUMO Objetivo: Avaliar a força dos músculos respiratórios e comparar a relação entre a pressão expiratória máxima (PEmáx) e a pressão inspiratória máxima (PImáx) em pacientes com doença respiratória crônica (DRC) e crianças saudáveis. Métodos: Estudo caso-controle. Foram selecionados indivíduos com doença neuromuscular e bronquiolite obliterante pós-infecciosa. Ademais, os grupos foram pareados com crianças e adolescentes saudáveis, considerando características antropométricas e demográficas. Foram registradas a PImáx e a PEmáx nos três grupos e a função pulmonar apenas em pacientes com doença respiratória crônica. Resultados: Foram incluídos 52 indivíduos com DRC (25 com doença neuromuscular e 27 com bronquiolite obliterante pós-infecciosa) e 85 indivíduos saudáveis, com idade média de 11,3±2,1 anos. Pacientes com doença neuromuscular e bronquiolite obliterante pós-infecciosa apresentaram menor PImáx e PEmáx em comparação aos indivíduos saudáveis, embora a relação PEmáx/PImáx tenha sido menor nos pacientes com doença neuromuscular (0,87±0,3) e maior nos pacientes com bronquiolite obliterante pós-infecciosa (1,1±0,3) em comparação ao grupo saudável (0,97±0,2). Somente em pacientes com doença neuromuscular foi observada uma correlação negativa entre a razão PEmáx/PImáx e a idade (r=-0,50; p=0,01). Conclusões: Foram observadas diferenças no padrão de fraqueza muscular em pacientes com doença respiratória crônica. Nos pacientes com doença neuromuscular, verificou-se diminuição na relação PEmáx/PImáx dependendo da PImáx; em pacientes com bronquiolite obliterante pós-infecciosa, foi observado aumento na relação dependendo da PImáx.

Body composition of women with and without dynapenia defined by different cut-off points / Composição corporal de mulheres com e sem dinapenia definida por diferentes pontos de corte

ABSTRACT Objective To compare body composition of postmenopausal women with and without dynapenia, defined by different cut-off points. Methods Body composition was assessed by electrical bioimpedance and the nutritional status by the body mass index. Dynapenia was diagnosed according to handgrip strength, using the following cut-off points: handgrip strength <16kgf and <20 kgf. Results A total of 171 women (50 to 92 years of age) participated in the investigation. The mean age of non-dynapenic and dynapenic women (handgrip strength <20kgf) was 69.4±8.2 and 74.5±8.2 years, respectively. The mean age of women with dynapenia (handgrip strength <16kgf) was 75.0±10.1 years and non-dynapenic women, 71.1±8.2 years. It was found that dynapenic women, with handgrip strength <20 and <16kgf, had an average of 2.38 and 2.47kg less muscle mass respectively, when compared to non-dynapenic women (p<0.05). However, there was no difference in muscle mass between the different dynapenic groups. Non-dynapenic women (handgrip strength ≥20kgf) had more total (3.55kg) and central fat (1.47kg) (p<0.05). Conclusion Dynapenic women, diagnosed considering both cutoff points, had less total and segmental muscle mass compared to non-dynapenic women. In addition, dynapenic women with handgrip strength <20kgf had lower total and trunk adiposity.

RESUMO Objetivo Comparar a composição corporal de mulheres na pós-menopausa com e sem dinapenia a partir de diferentes pontos de corte. Métodos A composição corporal foi avaliada por bioimpedância elétrica e o estado nutricional pelo índice de massa corporal. A dinapenia foi diagnosticada por meio da força de preensão manual, utilizando-se os seguintes pontos de corte: força de preensão manual <16kgf e <20kgf. Resultados Participaram da pesquisa 171 mulheres (50 a 92 anos). A média de idade das não dinapênicas e das dinapênicas (força de preensão manual <20 kgf) foi 69,4±8,2 e 74,5±8,2 anos, respectivamente. As mulheres com dinapenia pela força de preensão manual <16kgf apresentaram média de idade de 75,0±10,1 anos e as não dinapênicas tinham, em média, 71,1±8,2 anos. Verificou-se que as mulheres dinapênicas, com força de preensão manual <20 e <16kgf, tinham em média 2,38 e 2,47kg a menos de massa muscular quando comparadas às não dinapênicas (p<0,05). Contudo, não foi observada diferença na massa muscular entre os diferentes grupos dinapênicos. As mulheres não dinapênicas (força de preensão manual ≥20kgf) apresentaram maior gordura total (3,55kg) e central (1,47kg) (p<0,05). Conclusão As mulheres dinapênicas, diagnosticadas por ambos os pontos de corte, apresentaram menor massa muscular total e por segmento em relação às não dinapênicas. Ademais, as dinapênicas com força de preensão manual <20kgf possuíam menor adiposidade total e no tronco.

Análise ultrassonográfica do quadríceps femoral de pacientes críticos sob ventilação mecânica / Ultrasound analysis of the quadricepsfemoris of critically ill patients on mechanical ventilation

Resumo Introdução: Devido aos diversos danos gerados pela imobilidade no leito, faz-se necessária uma avaliação precoce do estado muscular dos pacientes críticos. Objetivo: Comparar as imagens ultrassonográficas e correlacionar a espessura muscular com a ecointensidade do músculo reto femoral (RF) e vasto intermédio (VI) em 48 horas e com 7 dias de ventilação mecânica invasiva (VMI). Métodos: Trata-se de um estudo observacional prospectivo, com 53 imagens obtidas numa Unidade de Terapia Intensiva. Resultados: Houve redução na espessura muscular de RF, VI e espessura total. Observamos uma correlação negativa entre a espessura muscular e ecointensidade do RF nas primeiras 48 horas e 7 dias após a VMI. Já em relação ao VI, não observamos associação da espessura do VI com a ecointensidade nesse mesmo período. Conclusão: Evidenciamos uma relevante redução na espessura muscular do RF, VI e espessura total do quadríceps. Observamos uma alteração na composição da fibra muscular do RF, entretanto este comportamento não foi evidenciado no músculo VI.