Fatigue, depression, and physical activity in patients with malignant hyperthermia: a cross-sectional observational study

Abstract Background Malignant Hyperthermia (MH) is a pharmacogenetic disorder triggered by halogenated anesthesia agents/succinylcholine and characterized by hypermetabolism crisis during anesthesia, but also by day-to-day symptoms, such as exercise intolerance, that may alert the health professional. Objective The study aimed to analyze the incidence of fatigue in MH susceptible patients and the variables that can impact perception of fatigue, such as the level of routine physical activity and depression. Methods A cross-sectional observational study was carried out with three groups - 22 patients susceptible to MH (positive in vitro muscle contracture test), 13 non-susceptible to MH (negative in vitro muscle contracture test) and 22 controls (no history of MH). Groups were assessed by a demographic/clinical questionnaire, a fatigue severity scale (intensity, specific situations, psychological consequences, rest/sleep response), and the Beck depression scale. Subgroups were re-assessed with the Baecke habitual physical exercise questionnaire (occupational physical activity, leisure physical exercise, leisure/locomotion physical activity). Results There were no significant differences among the three groups regarding fatigue intensity, fatigue related to specific situations, psychological consequences of fatigue, fatigue response to resting/sleeping, depression, number of active/sedentary participants, and the mean time and characteristics of habitual physical activity. Nevertheless, unlike the control sub-group, the physically active MH-susceptible subgroup had a higher fatigue response to resting/sleeping than the sedentary MH susceptible subgroup (respectively, 5.9 ± 1.9 vs. 3.9 ± 2, t-test unpaired, p< 0.05). Conclusion We did not detect subjective fatigue in MH susceptible patients, although we reported protracted recovery after physical activity, which may alert us to further investigation requirements.

Patient suspected susceptibility to malignant hyperthermia: impact of the disease

Abstract Introduction Malignant Hyperthermia (MH) is an inherited hypermetabolic syndrome triggered by exposure to halogenated anesthetics/succinylcholine. The lack of knowledge regarding this condition might be associated with the rare occurrence of MH reaction and symptoms. Methods This observational study evaluated 68 patients from 48 families with confirmed or suspected MH susceptibility due to medical history of MH reaction or idiopathic increase of creatine kinase or MH-related myopathies. Participants were assessed by a standardized questionnaire and submitted to physical/neurological examination to assess the characteristics of patients with MH, their knowledge about the disease, and the impact suspected MH had on their daily lives. Results Suspected MH impacted the daily life of 50% of patients, creating difficulties in performing surgical/clinical/dental treatment and problems related to their family life/working/practicing sports. The questionnaire on MH revealed a correct answer score of 62.1 ± 20.8 (mean ± standard deviation) on a scale 0 to 100. Abnormal physical/neurological examination findings were detected in 92.6% of susceptible patients. Conclusions Suspected MH had impacted the daily lives of most patients, with patients reporting problems even before MH investigation with IVCT. Patients showed a moderate level of knowledge about MH, suggesting the need to implement continuing education programs. MH susceptible patients require regular follow-up by a health team to detect abnormalities during physical and neurological examination.

Patient suspected susceptibility to malignant hyperthermia: impact of the disease.

INTRODUCTION: Malignant Hyperthermia (MH) is an inherited hypermetabolic syndrome triggered by exposure to halogenated anesthetics/succinylcholine. The lack of knowledge regarding this condition might be associated with the rare occurrence of MH reaction and symptoms. METHODS: This observational study evaluated 68 patients from 48 families with confirmed or suspected MH susceptibility due to medical history of MH reaction or idiopathic increase of creatine kinase or MH-related myopathies. Participants were assessed by a standardized questionnaire and submitted to physical/neurological examination to assess the characteristics of patients with MH, their knowledge about the disease, and the impact suspected MH had on their daily lives. RESULTS: Suspected MH impacted the daily life of 50% of patients, creating difficulties in performing surgical/clinical/dental treatment and problems related to their family life/working/practicing sports. The questionnaire on MH revealed a correct answer score of 62.1 ± 20.8 (mean ± standard deviation) on a scale 0 to 100. Abnormal physical/neurological examination findings were detected in 92.6% of susceptible patients. CONCLUSIONS: Suspected MH had impacted the daily lives of most patients, with patients reporting problems even before MH investigation with IVCT. Patients showed a moderate level of knowledge about MH, suggesting the need to implement continuing education programs. MH susceptible patients require regular follow-up by a health team to detect abnormalities during physical and neurological examination.

Fatigue, depression, and physical activity in patients with malignant hyperthermia: a cross-sectional observational study.

BACKGROUND: Malignant Hyperthermia (MH) is a pharmacogenetic disorder triggered by halogenated anesthesia agents/succinylcholine and characterized by hypermetabolism crisis during anesthesia, but also by day-to-day symptoms, such as exercise intolerance, that may alert the health professional. OBJECTIVE: The study aimed to analyze the incidence of fatigue in MH susceptible patients and the variables that can impact perception of fatigue, such as the level of routine physical activity and depression. METHODS: A cross-sectional observational study was carried out with three groups ... 22 patients susceptible to MH (positive in vitro muscle contracture test), 13 non-susceptible to MH (negative in vitro muscle contracture test) and 22 controls (no history of MH). Groups were assessed by a demographic/clinical questionnaire, a fatigue severity scale (intensity, specific situations, psychological consequences, rest/sleep response), and the Beck depression scale. Subgroups were re-assessed with the Baecke habitual physical exercise questionnaire (occupational physical activity, leisure physical exercise, leisure/locomotion physical activity). RESULTS: There were no significant differences among the three groups regarding fatigue intensity, fatigue related to specific situations, psychological consequences of fatigue, fatigue response to resting/sleeping, depression, number of active/sedentary participants, and the mean time and characteristics of habitual physical activity. Nevertheless, unlike the control sub-group, the physically active MH-susceptible subgroup had a higher fatigue response to resting/sleeping than the sedentary MH susceptible subgroup (respectively, 5.9.ß...ß1.9 vs. 3.9.ß...ß2, t-test unpaired, p.ß<.ß0.05). CONCLUSION: We did not detect subjective fatigue in MH susceptible patients, although we reported protracted recovery after physical activity, which may alert us to further investigation requirements.

Evaluation of dexmedetomidine anesthesia-related temperature changes: preliminary retrospective observational study.

INTRODUCTION AND OBJECTIVE: Dexmedetomidine is a potent adrenergic alpha-2 agonist, and analgesic, sedative, anxiolytic and sympatholytic. Given there have been reports of dexmedetomidine associated temperature changes, in which these events have been associated with complications, our objective was to describe both temperature increase and decrease, during the intra and postoperative period (initial 24 hours), and factors associated, in patients who received dexmedetomidine for anesthesia/sedation in the surgical suite. METHOD: Retrospective observational study, analyzing charts of patients ≥ 18 years submitted to anesthesia/sedation with dexmedetomidine, between 1/1/2017 and 31/12/2017. Upper temperature threshold was considered ≥ 37.8 °C, and lower, < 35 °C. The association with dexmedetomidine was assessed by the OMS/UMC causality system and by the Naranjo algorithm. RESULTS: The sample included 42 patients who received dexmedetomidine and whose temperature data were available, with predominance of men 26 (62%), 49.4/16.5 years old (mean/standard deviation), and weight 65/35.8 kg. None of the patients presented intraoperative temperature equal to or above 37.8 °C or below 35 °C. During the postoperative period, one patient presented an increase ≥ 37.8 °C (2.4%) and three, temperature decrease < 35 °C (7%). Surgery/anesthesia time and exposure time to dexmedetomidine were not appropriate linear predictors of maximum temperature. Older age (p < 0.01), longer exposure to dexmedetomidine (p < 0.05) and shorter surgery time (p < 0.01) were significant linear predictors for lower minimum temperature. CONCLUSIONS: Increase ≥ 37.8 °C/decrease < 35 °C of temperature possibly associated with dexmedetomidine did not occur in the intraoperative period and had a low frequency during the postoperative period.

Cutoff points in STOP-Bang questionnaire for obstructive sleep apnea.

BACKGROUND: Obstructive Sleep Apnea Syndrome (OSAS) is a public health problem of high prevalence and impacts on quality of life, anesthetic complications and cardiovascular diseases. In view of the difficulty in accessing the polysomnography, it is necessary to validate other methods for OSAS diagnostic screening in clinical practice in our country, such as the STOP-Bang questionnaire. OBJECTIVE: To validate the STOP-Bang questionnaire in Brazilians and evaluate optimal cutoff points. METHODS: After translation and back-translation, STOP-Bang questionnaire was applied to 71 individuals previously submitted to polysomnography and classified into control, mild, moderate or severe OSAS. RESULTS: The majority of patients was male (59.2%), white (79%), aged 48.9±13.9 years, and with neck circumference >40 centimeters (73.8%). STOP-Bang score was higher in OSAS mild (median/inter-quartis 25-75%: 5/3.5-6), moderate (4.5/4-5) and severe (5/4-6), versus control (2.5/1-4). The receiver operating characteristic (ROC) curve indicate that scores 3, 4 and 6, present the best specificity values (100, 80 and 92.9%) with acceptable sensitivity (60, 66.7 and 50%) in the mild, moderate and severe OSAS subgroups, respectively. In OSAS group analysis (Apnea Hypopnea Index [AHI] ≥5, <15, ≥15 - <30, ≥30), STOP-Bang cutoff point of 6 was optimal to detect OSAS. CONCLUSION: STOP-Bang Brazilian version identified OSAS patients with lower sensitivity and higher specificity compared to previous studies. Different cutoff points would improve the performance to detect patients with more severe OSAS.

Cutoff points in STOP-Bang questionnaire for obstructive sleep apnea / Pontos de corte no STOP-Bang para apneia obstrutiva do sono

ABSTRACT Background: Obstructive Sleep Apnea Syndrome (OSAS) is a public health problem of high prevalence and impacts on quality of life, anesthetic complications and cardiovascular diseases. In view of the difficulty in accessing the polysomnography, it is necessary to validate other methods for OSAS diagnostic screening in clinical practice in our country, such as the STOP-Bang questionnaire. Objective: To validate the STOP-Bang questionnaire in Brazilians and evaluate optimal cutoff points. Methods: After translation and back-translation, STOP-Bang questionnaire was applied to 71 individuals previously submitted to polysomnography and classified into control, mild, moderate or severe OSAS. Results: The majority of patients was male (59.2%), white (79%), aged 48.9±13.9 years, and with neck circumference >40 centimeters (73.8%). STOP-Bang score was higher in OSAS mild (median/inter-quartis 25-75%: 5/3.5-6), moderate (4.5/4-5) and severe (5/4-6), versus control (2.5/1-4). The receiver operating characteristic (ROC) curve indicate that scores 3, 4 and 6, present the best specificity values (100, 80 and 92.9%) with acceptable sensitivity (60, 66.7 and 50%) in the mild, moderate and severe OSAS subgroups, respectively. In OSAS group analysis (Apnea Hypopnea Index [AHI] ≥5, <15, ≥15 - <30, ≥30), STOP-Bang cutoff point of 6 was optimal to detect OSAS. Conclusion: STOP-Bang Brazilian version identified OSAS patients with lower sensitivity and higher specificity compared to previous studies. Different cutoff points would improve the performance to detect patients with more severe OSAS.

RESUMO Introdução: A Síndrome da Apneia Obstrutiva do Sono (SAOS) é um problema de saúde pública de alta prevalência e com impacto na qualidade de vida, complicações anestésicas e doenças cardiovasculares. Diante da dificuldade de acesso à realização da polissonografia, é necessário validar outros métodos para a triagem diagnóstica da SAOS na prática clínica no cenário brasileiro, como o questionário STOP-Bang. Objetivos: Validar o questionário STOP-Bang em brasileiros e avaliar os melhores pontos de corte. Método: Após tradução e retrotradução, o STOP-Bang foi aplicado em 71 indivíduos previamente submetidos à polissonografia e classificados em controles e em SAOS leve, moderada e grave. Resultados: A maioria da amostra foi de homens (59,2%), com 48,9±13,9 anos, brancos (79%) e com circunferência do pescoço >40 cm (73,8%). O escore STOP-Bang foi maior na SAOS leve (mediana/interquartis 25-75%: 5/3,5-6), moderada (4,5/4-5) e grave (5/4-6) versus controles (2,5/1-4). A Curva Característica de Operação do Receptor (ROC) indicou que os escores 3, 4 e 6 apresentam os melhores valores de especificidade (100, 80 e 92,9%) e sensibilidade aceitável (60, 66,7 e 50%) nos subgrupos de SAOS leve, moderada e grave, respectivamente. Na análise da amostra com SAOS (IAH ] ≥5, <15, ≥15 - <30, ≥30), o ponto de corte de 6 no STOP-Bang detectou melhor a SAOS. Conclusão: A versão brasileira do STOP-Bang identificou pacientes apneicos com menor sensibilidade e maior especificidade em relação a estudos anteriores. Diferentes pontos de corte melhorariam o desempenho para detectar pacientes com SAOS mais grave.

Brazilian Nursing and Psychology students' visits to patients with amyotrophic lateral sclerosis: prospective analysis.

INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease without a cure, but multidisciplinary treatment can maintain the quality of life (QOL) of persons with ALS (PALS). Despite health professionals possibly being affected by ALS in their care roles, little is known about the impact of ALS care on these professionals. OBJECTIVE: To analyze the effects of interactions between PALS and Nursing/Psychology students. METHODS: Over 12 weeks, 16 student pairs performed weekly 60-minute home visits to 16 PALS. Instruments used for analyses were the McGill Quality of Life Questionnaire for the PALS; and the Draw-a-Person test and the Desiderative Questionnaire for the students. All instruments were applied twice: at the beginning (pre-first visit) and at the end of the study (post-12 visits). RESULTS: After 12 weeks, there was not a significant change in total QOL or its five domains (existential wellbeing, physical wellbeing, psychological wellbeing, physical symptoms, and support). Existential wellbeing/support domains contributed most to the QOL of the PALS (pre-first visit and post-12 visits). Students showed anxiety/impulsivity but preserved adequacy to reality, logical thinking and global perception with regard to the PALS. We found that students were psychologically fragile in some subgroups/moments. CONCLUSIONS: Students' visits to PALS may contribute to the maintenance of the QOL of the patients. Additionally, visits, with psychological support for the students, seem safe and could contribute to the students' psychological maturation as health professionals. Additional psychological support may be necessary for some students in fragile subgroups/moments.

Brazilian Nursing and Psychology students' visits to patients with amyotrophic lateral sclerosis: prospective analysis / Visitas de estudantes brasileiros de Enfermagem e Psicologia a pessoas com esclerose amiotrófica lateral: análise prospectiva

ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease without a cure, but multidisciplinary treatment can maintain the quality of life (QOL) of persons with ALS (PALS). Despite health professionals possibly being affected by ALS in their care roles, little is known about the impact of ALS care on these professionals. Objective: To analyze the effects of interactions between PALS and Nursing/Psychology students. Methods: Over 12 weeks, 16 student pairs performed weekly 60-minute home visits to 16 PALS. Instruments used for analyses were the McGill Quality of Life Questionnaire for the PALS; and the Draw-a-Person test and the Desiderative Questionnaire for the students. All instruments were applied twice: at the beginning (pre-first visit) and at the end of the study (post-12 visits). Results: After 12 weeks, there was not a significant change in total QOL or its five domains (existential wellbeing, physical wellbeing, psychological wellbeing, physical symptoms, and support). Existential wellbeing/support domains contributed most to the QOL of the PALS (pre-first visit and post-12 visits). Students showed anxiety/impulsivity but preserved adequacy to reality, logical thinking and global perception with regard to the PALS. We found that students were psychologically fragile in some subgroups/moments. Conclusions: Students' visits to PALS may contribute to the maintenance of the QOL of the patients. Additionally, visits, with psychological support for the students, seem safe and could contribute to the students' psychological maturation as health professionals. Additional psychological support may be necessary for some students in fragile subgroups/moments.

RESUMO Esclerose lateral amiotrófica (ELA) é doença neurodegenerativa sem cura, mas tratamento multidisciplinar pode manter qualidade de vida (QOL). Embora profissionais de saúde possam ser afetados pela atuação na ELA, pouco é conhecido sobre impacto nesses profissionais. Objetivo: Analisar efeitos da interação entre pessoas com ELA e estudantes de Enfermagem e de Psicologia. Métodos: Durante 12 semanas, 16 pares de estudantes realizaram visitas domiciliares semanais de 60 minutos a 16 pessoas com ELA. Instrumentos utilizados nas análises foram McGill QOL para pessoas com ELA e Desenhe uma Pessoa e Questionário Desiderativo para estudantes, aplicados no início (pré-primeira visita) e final do estudo (pós-12 visitas). Resultados: Após 12 semanas, não houve alteração significativa na QOL total ou nos seus cinco domínios (bem-estar existencial, bem-estar físico, bem-estar psicológico, sintomas físicos e suporte). Bem-estar existencial e suporte contribuíram mais para QOL de pessoas com ELA (pré-primeira visita e pós-12 visitas). Estudantes apresentaram impulsividade/ansiedade, mas preservaram adequação à realidade, pensamento lógico e visão global da pessoa com ELA. Detectamos que estudantes estavam psicologicamente frágeis em alguns subgrupos/momentos:estudantes de Enfermagem pré-primeira visita, estudantes de Psicologia pós-12 visitas, estudantes do quinto semestre do respectivo curso, estudantes com 23 anos ou menos, e estudantes do sexo masculino pós-12 visitas. Conclusões: Visitas de estudantes a pessoas com ELA podem contribuir para a manutenção da QOL. Visitas com apoio psicológico parecem seguras e podem contribuir para amadurecimento psicológico dos estudantes como profissionais de saúde. Suporte psicológico adicional pode ser necessário para alguns estudantes em subgrupos/momentos frágeis.

Anesthesia for muscle biopsy to test susceptibility to malignant hyperthermia / Anestesia durante biópsia muscular para teste de suscetibilidade à hipertermia maligna

Abstract Introduction Malignant hyperthermia is an autosomal dominant pharmacogenetic disorder, characterized by hypermetabolic crisis triggered by halogenated anesthetics and/or succinylcholine. The standard method for diagnosing malignant hyperthermia susceptibility is the in vitro muscle contracture test in response to halothane-caffeine, which requires muscle biopsy under anesthesia. We describe a series of anesthetic procedures without triggering agents in malignant hyperthermia, comparing peripheral nerve block and subarachnoid anesthesia. Method We assessed the anesthetic record charts of 69 patients suspected of malignant hyperthermia susceptibility who underwent muscle biopsy for in vitro muscle contracture in the period of 7 years. Demographic data, indication for malignant hyperthermia investigation, in vitro muscle contracture test results, and surgery/anesthesia/recovery data were analyzed. Results Sample with 34 ± 13.7 years, 60.9% women, 65.2% of in vitro muscle contracture test positive. Techniques used: peripheral nerve blocks — lateral femoral and femoral cutaneous, latency 65 ± 41 min — (47.8%); subarachnoid anesthesia (49.3%), and total venous anesthesia (1.4%). There was 39.4% failure of peripheral nerve block and 11.8% of subarachnoid anesthesia. Adverse events (8.7%) occurred only with subarachnoid blockade (bradycardia, nausea, and transient neurological syndrome). All patients remained in the post-anesthesia care unit until discharge. Age and weight were significantly higher in patients with blockade failure (ROC cut-off point of 23.5 years and 59.5 kg) and blockade failure was more frequent in the presence of increased idiopathic creatine kinase. Conclusion Anesthesia with non-triggering agents has been shown to be safe in patients with malignant hyperthermia susceptibility. Variables such as age, weight, and history of increased idiopathic creatine kinase may be useful in selecting the anesthetic technique for this group of patients.

Resumo Introdução Hipertermia maligna é uma doença farmacogenética autossômica dominante, caracterizada por crise hipermetabólica desencadeada por anestésicos halogenados e/ou succinilcolina. O padrão para diagnóstico da suscetibilidade à hipertermia maligna é o teste de contratura muscular in vitro em resposta ao halotano-cafeína, para o qual é necessária biopsia muscular sob anestesia. Descrevemos uma série de anestesias sem agentes desencadeantes na hipertermia maligna e comparamos bloqueios de nervo periférico e anestesias subaracnóideas. Método Foram analisados os prontuários/fichas anestésicas de 69 pacientes suspeitos de susceptibilidade à hipertermia maligna, submetidos à biópsia muscular para teste de contratura muscular in vitro durante sete anos. Analisamos dados demográficos, indicação para investigação de hipertermia maligna, resultado do teste de contratura muscular in vitro e dados da cirurgia/anestesia/recuperação. Resultados Amostra com 34 ± 13,7 anos, 60,9% mulheres, 65,2% de teste de contratura muscular in vitro positivos. Técnicas empregadas: 47,8% bloqueios de nervo periférico (femoral e cutâneo femoral lateral, latência 65 ± 41 minutos), 49,3% anestesias subaracnóideas e 1,4% anestesia venosa total. Falha em 39,4% dos bloqueios de nervo periférico e 11,8% das anestesias subaracnóideas. Eventos adversos (8,7%) como bradicardia, náuseas e síndrome neurológica transitória só ocorreram com bloqueio subaracnóideo. Todos os pacientes permaneceram na sala de recuperação pós-anestésica até liberação. Idade e peso foram significativamente maiores nos pacientes com falha no bloqueio (ponto de corte da curva ROC de 23,5 anos e 59,5 Kg) e esta foi mais frequente na presença de aumento idiopático de creatinoquinase. Conclusão Anestesia com agentes não desencadeantes mostrou-se segura em pacientes suscetíveis à hipertermia maligna. Variáveis como idade, peso e antecedente de aumento idiopático de creatinoquinase podem ser úteis para selecionar a técnica anestésica nesse grupo.

[Anesthesia for muscle biopsy to test susceptibility to malignant hyperthermia]. / Anestesia durante biópsia muscular para teste de suscetibilidade à hipertermia maligna.

INTRODUCTION: Malignant hyperthermia is an autosomal dominant pharmacogenetic disorder, characterized by hypermetabolic crisis triggered by halogenated anesthetics and/or succinylcholine. The standard method for diagnosing malignant hyperthermia susceptibility is the in vitro muscle contracture test in response to halothane-caffeine, which requires muscle biopsy under anesthesia. We describe a series of anesthetic procedures without triggering agents in malignant hyperthermia, comparing peripheral nerve block and subarachnoid anesthesia. METHOD: We assessed the anesthetic record charts of 69 patients suspected of malignant hyperthermia susceptibility who underwent muscle biopsy for in vitro muscle contracture in the period of 7 years. Demographic data, indication for malignant hyperthermia investigation, in vitro muscle contracture test results, and surgery/anesthesia/recovery data were analyzed. RESULTS: Sample with 34±13.7 years, 60.9% women, 65.2% of in vitro muscle contracture test positive. Techniques used: peripheral nerve blocks - lateral femoral and femoral cutaneous, latency 65±41minutes - (47.8%); subarachnoid anesthesia (49.3%), and total venous anesthesia (1.4%). There was 39.4% failure of peripheral nerve block and 11.8% of subarachnoid anesthesia. Adverse events (8.7%) occurred only with subarachnoid blockade (bradycardia, nausea, and transient neurological syndrome). All patients remained in the post-anesthesia care unit until discharge. Age and weight were significantly higher in patients with blockade failure (ROC cut-off point of 23.5 years and 59.5kg) and blockade failure was more frequent in the presence of increased idiopathic creatine kinase. CONCLUSION: Anesthesia with non-triggering agents has been shown to be safe in patients with malignant hyperthermia susceptibility. Variables such as age, weight, and history of increased idiopathic creatine kinase may be useful in selecting the anesthetic technique for this group of patients.

Profile of malignant hyperthermia susceptibility reports confirmed with muscular contracture test in Brazil / Perfil dos relatos de suscetibilidade à hipertermia maligna confirmados com teste de contratura muscular no Brasil

Abstract Background and objectives: Malignant hyperthermia is an autosomal dominant hypermetabolic pharmacogenetic syndrome, with a mortality rate of 10%-20%, which is triggered by the use of halogenated inhaled anesthetics or muscle relaxant succinylcholine. The gold standard for suspected susceptibility to malignant hyperthermia is the in vitro muscle contracture test in response to halothane and caffeine. The determination of susceptibility in suspected families allows the planning of safe anesthesia without triggering agents for patients with known susceptibility to malignant hyperthermia by positive in vitro muscle contracture test. Moreover, the patient whose suspicion of malignant hyperthermia was excluded by the in vitro negative muscle contracture test may undergo standard anesthesia. Susceptibility to malignant hyperthermia has a variable manifestation ranging from an asymptomatic subject presenting a crisis of malignant hyperthermia during anesthesia with triggering agents to a patient with atrophy and muscle weakness due to central core myopathy. The aim of this study is to analyze the profile of reports of susceptibility to malignant hyperthermia confirmed with in vitro muscle contracture test. Method: Analysis of the medical records of patients with personal/family suspicion of malignant hyperthermia investigated with in vitro muscle contracture test, after given written informed consent, between 1997 and 2010. Results: Of the 50 events that motivated the suspicion of malignant hyperthermia and family investigation (sample aged 27 ± 18 years, 52% men, 76% white), 64% were investigated for an anesthetic malignant hyperthermia crisis, with mortality rate of 25%. The most common signs of a malignant hyperthermia crisis were hyperthermia, tachycardia, and muscle stiffness. Susceptibility to malignant hyperthermia was confirmed in 79.4% of the 92 relatives investigated with the in vitro muscle contracture test. Conclusion: The crises of malignant hyperthermia resembled those described in other countries, but with frequency lower than that estimated in the country.

Resumo Justificativa e objetivo: Hipertermia maligna é uma síndrome farmacogenética hipermetabólica, autossômica dominante, com mortalidade entre 10%-20%, desencadeada por uso de anestésico inalatório halogenado ou relaxante muscular succinilcolina. O padrão-ouro para pesquisa de suscetibilidade à hipertermia maligna é o teste de contratura muscular in vitro em resposta ao halotano e à cafeína. A determinação da suscetibilidade nas famílias suspeitas permite planejar anestesias seguras sem agentes desencadeantes para os pacientes confirmados como suscetíveis à hipertermia maligna pelo teste de contratura muscular in vitro positivo. Além disso, o paciente no qual a suspeita de hipertermia maligna foi excluída pelo teste de contratura muscular in vitro negativo pode ser anestesiado de forma convencional. Suscetibilidade à hipertermia maligna tem manifestação variável, desde indivíduo assintomático que apresenta crise de hipertermia maligna durante anestesia com agentes desencadeantes, até paciente com atrofia e fraqueza muscular por miopatia central core disease. O objetivo deste trabalho é analisar o perfil dos relatos de suscetibilidade à hipertermia maligna confirmados com teste de contratura muscular in vitro. Método: Análise das fichas de notificação dos pacientes com suspeita pessoal/familiar de hipertermia maligna investigados com teste de contratura muscular in vitro, após assinatura do termo de consentimento, entre 1997-2010. Resultados: Dos 50 eventos que motivaram a suspeita de hipertermia maligna e a investigação familiar (amostra com 27 ± 18 anos, 52% homens, 76% brancos), 64% foram investigados por crise de hipertermia maligna anestésica, com mortalidade de 25%. Sinais mais comuns da crise de hipertermia maligna foram hipertermia, taquicardia e rigidez muscular. Suscetibilidade à hipertermia maligna foi confirmada em 79,4% dos 92 parentes investigados com teste de contratura muscular in vitro. Conclusão: Crises de hipertermia maligna assemelharam-se às descritas em outros países, porém com frequência inferior à estimada no país.

Correlation between obstructive apnea syndrome and difficult airway in ENT surgery / Correlação entre síndrome da apneia obstrutiva e via aérea difícil na cirurgia otorrinolaringológica

Abstract Introduction: ENT patients with obstructive sleep apnea syndrome have a tendency of collapsing the upper airways in addition to anatomical obstacles. Obstructive sleep apnea syndrome is related to the increased risk of difficult airway and also increased perioperative complications. In order to identify these patients in the preoperative period, the STOP Bang questionnaire has been highlighted because it is summarized and easy to apply. Objectives: Evaluate through the STOP Bang questionnaire whether patients undergoing ENT surgery with a diagnosis of obstructive sleep apnea syndrome have a higher risk of complications, particularly the occurrence of difficult airway. Casuistry and methods: Measurements of anatomical parameters for difficult airway and questionnaire application for clinical prediction of obstructive sleep apnea syndrome were performed in 48 patients with a previous polysomnographic study. Results: The sample detected difficult airway in about 18.7% of patients, all of them with obstructive sleep apnea syndrome. This group had older age, cervical circumference > 40 cm, ASA II and Cormack III/IV. Patients with obstructive sleep apnea syndrome had higher body mass index, cervical circumference, and frequent apnea. In subgroup analysis, the group with severe obstructive sleep apnea syndrome showed a significantly higher SB score compared to patients without this syndrome or with a mild/moderate obstructive sleep apnea syndrome. Conclusions: The STOP Bang questionnaire was not able to predict difficult airway and mild obstructive sleep apnea syndrome, but it identified marked obstructive sleep apnea syndrome. All patients with difficult airway had moderate and marked obstructive sleep apnea syndrome, although this syndrome did not involve difficult airway. The variables Cormack III/IV and BMI greater than 35 kg.m−2 were able to predict difficult airway and obstructive sleep apnea syndrome, respectively.

Resumo Introdução: Os pacientes cirúrgicos otorrinolaringológicos portadores da síndrome da apneia obstrutiva do sono apresentam, além de obstáculos anatômicos, tendência ao colapso das vias aéreas superiores. Síndrome da apneia obstrutiva do sono está relacionada ao maior risco de via aérea difícil e também aumento de complicações perioperatórias. A fim de se identificar esses pacientes no período pré-operatório, tem se destacado o questionário STOP Bang, por ser resumido e de fácil aplicação. Objetivos: Avaliar se pacientes submetidos à cirurgia otorrinolaringológica com diagnóstico de síndrome da apneia obstrutiva do sono pelo questionário STOP Bang apresentariam maior risco de complicações, particularmente ocorrência de via aérea difícil. Casuística e métodos: Feitas medidas de parâmetros anatômicos para via aérea difícil e administrado questionário para predição clínica de síndrome da apneia obstrutiva do sono em 48 pacientes com estudo polissonográfico prévio. Resultados: A amostra detectou via aérea difícil em 18,7% dos pacientes, todos portadores de síndrome da apneia obstrutiva do sono. Esse grupo apresentava maior idade, circunferência cervical > 40 cm, ASA II e Cormack III/IV. Os pacientes com síndrome da apneia obstrutiva do sono apresentaram maior índice de massa corpórea, circunferência cervical e frequência de apneia observada. Na análise de subgrupos, o grupo com síndrome da apneia obstrutiva do sono acentuada mostrou significantemente maior pontuação no SB quando comparado com pacientes sem síndrome da apneia obstrutiva do sono ou com síndrome da apneia obstrutiva do sono leve/moderada. Conclusões: O questionário STOP Bang não foi capaz de predizer via aérea difícil e nem síndrome da apneia obstrutiva do sono leve e moderada, mas identificou síndrome da apneia obstrutiva do sono acentuada. Todos pacientes com via aérea difícil apresentaram síndrome da apneia obstrutiva do sono moderada e acentuada, apesar desta síndrome não implicar em via aérea difícil. As variáveis Cormack III/IV e IMC maior do que 35 Kg.m-2 foram capazes de predizer via aérea difícil e síndrome da apneia obstrutiva do sono respectivamente.

Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy / Reação atípica à anestesia em distrofia muscular de Duchenne/Becker

Abstract Background and objectives Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of this report is to describe the investigation and diagnosis of a patient with Becker muscular dystrophy and review the care required in anesthesia. Case report Male patient, 14 years old, referred for hyperCKemia (chronic increase of serum creatine kinase levels - CK), with CK values of 7,779-29,040 IU.L-1 (normal 174 IU.L-1). He presented with a discrete delay in motor milestones acquisition (sitting at 9 months, walking at 18 months). He had a history of liver transplantation. In the neurological examination, the patient showed difficulty in walking on one's heels, myopathic sign (hands supported on the thighs to stand), high arched palate, calf hypertrophy, winged scapulae, global muscle hypotonia and arreflexia. Spirometry showed mild restrictive respiratory insufficiency (forced vital capacity: 77% of predicted). The in vitro muscle contracture test in response to halothane and caffeine was normal. Muscular dystrophy analysis by Western blot showed reduced dystrophin (20% of normal) for both antibodies (C and N-terminal), allowing the diagnosis of Becker muscular dystrophy. Conclusion On preanesthetic assessment, the history of delayed motor development, as well as clinical and/or laboratory signs of myopathy, should encourage neurological evaluation, aiming at diagnosing subclinical myopathies and planning the necessary care to prevent anesthetic complications. Duchenne/Becker muscular dystrophy, although it does not increase susceptibility to MH, may lead to atypical fatal reactions in anesthesia.

Resumo Justificativa/objetivos Distrofia muscular de Duchenne/Becker afeta a musculatura esquelética e leva a fraqueza muscular progressiva e risco de reações atípicas anestésicas após exposição à succinilcolina ou halogenados. O objetivo do presente relato é descrever investigação e diagnóstico de paciente com distrofia muscular de Becker e revisar os cuidados necessários na anestesia. Relato de caso Paciente masculino, 14 anos, encaminhado por hiperCKemia (aumento crônico dos níveis séricos de creatinoquinase - CK), com valores de CK de 7.779-29.040 UI.L-1 (normal 174 UI.L-1). Apresentou discreto atraso da aquisição de marcos motores (sentou aos nove meses, andou aos 18). Antecedente de transplante hepático. No exame neurológico apresentava dificuldade para andar nos calcanhares, levantar miopático (apoiava mãos nas coxas para ficar de pé), palato arqueado alto, hipertrofia de panturrilhas, escápulas aladas, hipotonia muscular global e arreflexia. Havia insuficiência respiratória restritiva leve na espirometria (capacidade vital forçada: 77% do previsto). O teste de contratura muscular in vitro em resposta ao halotano e à cafeína foi normal. Estudo da distrofina muscular por técnica de Western blot mostrou redução da distrofina (20% do normal) para ambos os anticorpos (C e N-terminal), e permitiu o diagnóstico de distrofia muscular de Becker. Conclusão Na avaliação pré-anestésica, história de atraso do desenvolvimento motor, bem como sinais clínicos e/ou laboratoriais de miopatia, deve motivar avaliação neurológica, com o objetivo de diagnosticar miopatias subclínicas e planejar cuidados necessários para prevenir complicações anestésicas. Distrofia muscular de Duchenne/Becker, apesar de não conferir suscetibilidade aumentada à HM, pode levar a reações atípicas fatais na anestesia.

[Correlation between obstructive apnea syndrome and difficult airway in ENT surgery]. / Correlação entre síndrome da apneia obstrutiva e via aérea difícil na cirurgia otorrinolaringológica.

INTRODUCTION: ENT patients with obstructive sleep apnea syndrome have a tendency of collapsing the upper airways in addition to anatomical obstacles. Obstructive sleep apnea syndrome is related to the increased risk of difficult airway and also increased perioperative complications. In order to identify these patients in the preoperative period, the STOP Bang questionnaire has been highlighted because it is summarized and easy to apply. OBJECTIVES: Evaluate through the STOP Bang questionnaire whether patients undergoing ENT surgery with a diagnosis of obstructive sleep apnea syndrome have a higher risk of complications, particularly the occurrence of difficult airway. CASUISTRY AND METHODS: Measurements of anatomical parameters for difficult airway and questionnaire application for clinical prediction of obstructive sleep apnea syndrome were performed in 48 patients with a previous polysomnographic study. RESULTS: The sample detected difficult airway in about 18.7% of patients, all of them with obstructive sleep apnea syndrome. This group had older age, cervical circumference > 40cm, ASA II and Cormack III/IV. Patients with obstructive sleep apnea syndrome had higher body mass index, cervical circumference, and frequent apnea. In subgroup analysis, the group with severe obstructive sleep apnea syndrome showed a significantly higher SB score compared to patients without this syndrome or with a mild/moderate obstructive sleep apnea syndrome. CONCLUSIONS: The STOP Bang questionnaire was not able to predict difficult airway and mild obstructive sleep apnea syndrome, but it identified marked obstructive sleep apnea syndrome. All patients with difficult airway had moderate and marked obstructive sleep apnea syndrome, although this syndrome did not involve difficult airway. The variables Cormack III/IV and BMI greater than 35 Kg.m-2 were able to predict difficult airway and obstructive sleep apnea syndrome, respectively.

[Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy]. / Reação atípica à anestesia em distrofia muscular de Duchenne/Becker.

BACKGROUND AND OBJECTIVES: Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of this report is to describe the investigation and diagnosis of a patient with Becker muscular dystrophy and review the care required in anesthesia. CASE REPORT: Male patient, 14 years old, referred for hyperCKemia (chronic increase of serum creatine kinase levels - CK), with CK values of 7,779-29,040IU.L-1 (normal 174IU.L-1). He presented with a discrete delay in motor milestones acquisition (sitting at 9 months, walking at 18 months). He had a history of liver transplantation. In the neurological examination, the patient showed difficulty in walking on one's heels, myopathic sign (hands supported on the thighs to stand), high arched palate, calf hypertrophy, winged scapulae, global muscle hypotonia and arreflexia. Spirometry showed mild restrictive respiratory insufficiency (forced vital capacity: 77% of predicted). The in vitro muscle contracture test in response to halothane and caffeine was normal. Muscular dystrophy analysis by Western blot showed reduced dystrophin (20% of normal) for both antibodies (C and N-terminal), allowing the diagnosis of Becker muscular dystrophy. CONCLUSION: On preanesthetic assessment, the history of delayed motor development, as well as clinical and/or laboratory signs of myopathy, should encourage neurological evaluation, aiming at diagnosing subclinical myopathies and planning the necessary care to prevent anesthetic complications. Duchenne/Becker muscular dystrophy, although it does not increase susceptibility to MH, may lead to atypical fatal reactions in anesthesia.

Hipertermia maligna no Brasil: análise da atividade do hotline em 2009 / Malignant hyperthermia in Brazil: analysis of hotline activity in 2009 / Hipertermia maligna en Brasil: análisis de la actividad del hotline en 2009

JUSTIFICATIVA E OBJETIVOS: Hipertermia maligna (HM) é doença farmacogenética, com reação hipermetabólica anormal a anestésicos halogenados e/ou relaxantes musculares despolarizantes. Desde 1991 há um serviço hotline de atendimento telefônico para HM no Brasil, disponível 24 horas por dia, em São Paulo. Este artigo analisa a atividade do serviço brasileiro de hotline para HM em 2009. MÉTODOS: Análise prospectiva de todas chamadas telefônicas paria maligna (HM) é doença farmacogenética, com reação hipermetabólica anormal a anestésicos halogenados e/ou relaxantes musculares despolarizantes. Desde 1991 há um serviço hotline de atendimento telefônico para HM no Brasil, disponível 24 horas por dia, em São Paulo. Este art go analisa a at vidade do serviço brasileiro de hotline para HM em 2009a o serviço brasileiro de hotline para HM, de janeiro a dezembro de 2009. RESULTADOS: Foram recebidas 22 ligações; 21 provenientes do Sul-Sudeste do Brasil e uma do Norte. Quinze eram pedidos de informações gerais sobre HM. Sete foram suspeitas de crises agudas de HM, das quais duas não foram consideradas como HM. Nas cinco crises compatíveis com HM, todos os pacientes receberam anestésicos inalatórios halogenados (2 isoflurano, 3 sevoflurano) e um usou também succinilcolina; havia quatro homens e uma mulher, com média de idade de 18 anos (2-27). Problemas descritos nas cinco crises de HM: taquicardia (cinco), aumento do gás carbônico expirado (quatro), hipertermia (três), acidemia (um), rabdomiólise (um) e mioglobinúria (um). Um paciente recebeu dantrolene. Todos os cinco pacientes com crises de HM foram seguidos em unidade de terapia intensiva e recuperaram-se sem sequelas. A suscetibilidade à HM foi posteriormente confirmada em dois pacientes por meio do teste de contratura muscular in vitro. CONCLUSÕES: O número de chamadas por ano no serviço brasileiro de hotline para HM ainda é reduzido. As características das crises foram similares às descritas em outros países. É preciso aumentar o conhecimento sobre HM no Brasil.

BACKGROUND AND OBJECTIVES: Malignant hyperthermia (MH) is a pharmacogenetic disease that causes abnormal hypermetabolic reaction to halogenated anesthetics and/or depolarizing muscle relaxants. In Brazil, there is a hotline telephone service for MH since 1991, available 24 hours a day in São Paulo. This article analyzes the activity of the Brazilian hotline service for MH in 2009. METHODS: Prospective analysis of all phone calls made to the Brazilian hotline service for MH from January to December 2009. RESULTS: Twenty-two phone calls were received: 21 from the South/Southeast region of Brazil and one from the North region. Fifteen calls were requests for general information about MH. Seven were about suspected MH acute episodes, two of which were not considered as MH. In five episodes compatible with MH, all patients received halogenated volatile anesthetics (2, isoflurane; 3, sevoflurane) and one also used succinylcholine; there were four men and one woman, with a mean age of 18 years (2-27). The problems described in the five MH episodes were tachycardia (5), increased expired carbon dioxide (4), hyperthermia (3), acidemia (1), rhabdomyolysis (1), and myoglobinuria (1). One patient received dantrolene. All five patients with MH episodes were follow-up in the intensive care unit and recovered without sequelae. Susceptibility to MH was later confirmed in two patients by in vitro muscle contracture test. CONCLUSIONS: The number of calls per year in the Brazilian hotline service for MH is still low. The characteristics of MH episode were similar to those reported in other countries. The knowledge of MH in Brazil needs to be increased.

JUSTIFICATIVA Y OBJETIVOS: La Hipertermia Maligna (HM) es una enfermedad farmacogenética, con una reacción hipermetabólica anormal a los anestésicos halogenados y/o relajantes musculares despolarizantes. Desde 1991 existe un servicio hotline de atención telefónica para la HM en Brasil a disposición las 24 horas del día en São Paulo. Este artículo analiza la actividad del servicio brasileño de hotline para la HM en el 2009. MÉTODOS: Análisis prospectivo de todas las llamadas telefónicas realizadas al servicio brasileño de hotline para la HM, desde enero a diciembre de 2009. RESULTADOS: Se recibieron 22 llamadas; 21 provenientes del Sur y Sudeste de Brasil y una del Norte. Quince eran solicitudes de informaciones generales sobre la HM. Siete fueron sobre sospechas de crisis agudas de HM, de las cuales dos no fueron consideradas como HM. En las cinco crisis compatibles con la HM, todos los pacientes recibieron anestésicos inhalatorios halogenados (2 isoflurano, 3 sevoflurano) y uno también usó succinilcolina. Había cuatro hombres y una mujer, con un promedio de edad de 18 años (2-27). Los problemas descritos en las cinco crisis de HM: taquicardia (cinco), aumento del gas carbónico espirado (cuatro), hipertermia (tres), acidemia (uno), rabdomiólisis (uno) y mioglobinuria (uno). Un paciente recibió dantrolene. Todos los cinco pacientes con crisis de HM recibieron acompañamiento en la unidad de cuidados intensivos y se recuperaron sin secuelas. La susceptibilidad a la HM fue posteriormente confirmada en dos pacientes por medio del test de la contractura muscular in vitro. CONCLUSIONES: El número de llamadas por año al servicio brasileño de hotline para la HM todavía es pequeño. Las características de las crisis fueron similares a las descritas en otros países. Es necesario aumentar el conocimiento que se tiene sobre la HM en Brasil.