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INTRODUCTION: Recessive mutations in the CAPN3 gene can lead to limb-girdle muscular dystrophy recessive 1 (LGMD R1). Targeted next-generation sequencing facilitates the discovery of new mutations linked with disease, owing to its ability to selectively enrich specific genomic regions. METHODS: We performed targeted next-generation sequencing of all exons of the CAPN3 gene in 4 patients with sporadic limb-girdle muscular dystrophy (LGMD) and further analyzed the effects of the novel identified variant using various software tools. RESULTS: We found 5 variants in CAPN3 gene in 4 patients, c.82_83insC (insertion mutation) and c.1115+2T>C (splicing mutation) are reported for the first time in CAPN3 (NM_000070.2). The bioinformatics analysis indicated that these two novel variants affected CAPN3 transcription as well as translation. DISCUSSION: Our findings reveal previously unreported splicing mutation and insertion mutation in CAPN3 gene, further expanding the pathogenic gene profile of LGMD.
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Povo Asiático , Calpaína , Proteínas Musculares , Distrofia Muscular do Cíngulo dos Membros , Humanos , Calpaína/genética , Distrofia Muscular do Cíngulo dos Membros/genética , Proteínas Musculares/genética , Masculino , Feminino , Povo Asiático/genética , Sequenciamento de Nucleotídeos em Larga Escala , Adulto , Mutação/genética , China , Adolescente , Éxons/genética , Adulto Jovem , População do Leste AsiáticoRESUMO
Until recently, research on the pathogenesis and treatment of osteoporosis and sarcopenia has primarily focused on local and systemic humoral mechanisms, often overlooking neuronal mechanisms. However, there is a growing body of literature on the neuronal regulation of bone and skeletal muscle structure and function, which may provide insights into the pathogenesis of osteosarcopenia. This review aims to integrate these neuronal regulatory mechanisms to form a comprehensive understanding and inspire future research that could uncover novel strategies for preventing and treating osteosarcopenia. Specifically, the review explores the functional adaptation of weight-bearing bone to mechanical loading throughout evolutionary development, from Wolff's law and Frost's mechanostat theory to the mosaic hypothesis, which emphasizes neuronal regulation. The recently introduced bone osteoregulation reflex points to the importance of the osteocytic mechanoreceptive network as a receptor in this neuronal regulation mechanism. Finally, the review focuses on the bone myoregulation reflex, which is known as a mechanism by which bone loading regulates muscle functions neuronally. Considering the ageing-related regressive changes in the nerve fibres that provide both structural and functional regulation in bone and skeletal muscle tissue and the bone and muscle tissues they innervate, it is suggested that neuronal mechanisms might play a central role in explaining osteosarcopenia in older adults.
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Mitochondrial dysfunctions are thought to contribute to muscle atrophy and weakness that develop during ageing and mechanical unloading caused by immobilization, bed rest and microgravity. Older adults are at greater risk of developing muscle and mitochondrial dysfunctions in response to unloading. Although exercise is well known to promote muscle and mitochondrial health, its protective effect during mechanical unloading in older adults remains largely unexplored. Here, we investigated the impact of 14 days of head-down tilt bed rest (HDBR) with and without a multimodal exercise countermeasure in older men and women (55-65 years). Leg muscle volume was assessed using magnetic resonance imaging. Biopsies of the vastus lateralis were performed to assess markers of mitochondrial content, respiration, reactive oxygen species (ROS) production and calcium retention capacity (mCRC). Indices of mitochondrial quality control (MQC), including markers of fusion (MFN1 and 2), fission (Drp1), mitophagy (Parkin) and autophagy (p62 and LC3I and II) were measured using immunoblots. Muscle cross-sections were stained for neural cell adhesion molecule (NCAM, a marker of denervation). HDBR triggered muscle atrophy, decreased mitochondrial content and respiration and increased mitochondrial ROS production. HDBR had no impact on mCRC or MQC markers but increased markers of autophagy and denervation. Exercise prevented the deleterious effects of HDBR on leg muscle volume, mitochondrial ROS production and markers of autophagy and denervation. Exercise also increased mitochondrial content and respiration without altering mCRC and MQC markers. Collectively, our results indicate that an exercise countermeasure that can be performed in bed is effective in protecting muscle and mitochondrial health during HDBR in older adults. KEY POINTS: Conditions associated with muscle unloading, such as immobilization, bed rest or microgravity, result in muscle atrophy and weakness, particularly in older adults. Mitochondrial dysfunctions are thought to contribute to muscle atrophy caused by unloading and ageing. However, whether exercise can counteract the deleterious effects of unloading in older adults remains largely unexplored. Here, we report that older adults exposed to 14 days of head-down tilt bed rest (HDBR) displayed upper leg muscle atrophy, a decrease in mitochondrial content and respiration, an increase in H2O2 emission, and an increase in autophagy and denervation markers. No impact of HDBR on mitochondrial quality control was observed. A multimodal exercise countermeasure prevented the deleterious effects of HDBR on upper leg muscle volume, mitochondrial reactive oxygen species emission, and markers of autophagy and denervation and increased mitochondrial content and respiration. These findings highlight the effectiveness of exercise in promoting muscle and mitochondrial health in older adults undergoing bed rest.
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INTRODUCTION/AIMS: The single simple question (SSQ), "What percentage of normal (0%-100%) do you feel regarding your disease?" has proven feasible and valid in assessing myasthenia gravis and a heterogeneous spectrum of neuropathies. This study explores the utility of the SSQ in axonal polyneuropathies (PNPs), encompassing diabetic neuropathy, and evaluates its responsiveness to scale changes. METHODS: A retrospective chart review of 150 patients with axonal PNP responding to the SSQ was performed. Patients underwent clinical and electrophysiological evaluations, and were evaluated by clinical and disability scales, including the Medical Research Council sum score, modified Toronto Clinical Neuropathy score (mTCNS), Overall Neuropathy Limitation Scale, and Rasch-built Overall Disability Scale (RODS). RESULTS: The SSQ total scores correlated moderately with both the RODS score (r = .59, p < .001) and the mTCNS symptom score (r = -.43, p < .001), maintaining significance after adjustment for multiple comparisons. Longitudinally, after adjusting for multiple comparisons, the change in mTCNS symptom score retained statistical significance (adjusted p = .048). The SSQ did not show any association with electrophysiological parameters or sensory symptoms, other than a lower score in those with pain (100% with SSQ <40%, 85% with SSQ 40%-70%, and 34% with SSQ >70%). DISCUSSION: The SSQ is a feasible, valid scale that may be utilized to assess and follow patients with length-dependent axonal PNPs. Given that the SSQ is not strongly associated with clinical and disability scales or electrophysiological findings, additional investigations are required for a comprehensive assessment of PNP.
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BACKGROUND AND PURPOSE: Despite thiamine deficiency being a lesser-known entity in modern times, beriberi in various forms, including thiamine deficiency-related neuropathy, remains endemic in Kashmir due to the consumption of polished rice as a staple food. This observational study investigates cases of peripheral neuropathy of unknown etiology and their potential responsiveness to thiamine administration. METHODS: This prospective study enrolled adult patients presenting to the emergency department with weakness consistent with thiamine deficiency-related neuropathy and conducted a therapeutic challenge with thiamine on 41 patients. Response to thiamine therapy was monitored based on subjective and objective improvements in weakness and power. Patients were divided into thiamine responders (n = 25) and nonresponders (n = 16) based on their response to thiamine therapy and nerve conduction studies. RESULTS: Most of the baseline characteristics were similar between responders and nonresponders, except the responders exhibited lower thiamine levels and higher partial pressure of oxygen and lactate levels compared to nonresponders. All patients had a history of consuming polished rice and traditional salt tea. Although weakness in the lower limbs was present in both groups, nonresponders were more likely to exhibit weakness in all four limbs. Clinical improvement was observed within 24 h, but proximal muscle weakness persisted for an extended period of time. CONCLUSIONS: Thiamine deficiency-related neuropathy presents with predominant lower limb weakness, exacerbated by vomiting, poor food intake, psychiatric illness, and pregnancy. Thiamine challenge should be followed by observation of clinical and biochemical response.
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Beriberi , Doenças do Sistema Nervoso Periférico , Deficiência de Tiamina , Adulto , Feminino , Gravidez , Humanos , Beriberi/complicações , Beriberi/tratamento farmacológico , Estudos Prospectivos , Deficiência de Tiamina/complicações , Deficiência de Tiamina/tratamento farmacológico , Tiamina/uso terapêutico , Doenças do Sistema Nervoso Periférico/complicações , Debilidade Muscular/etiologiaRESUMO
INTRODUCTION: Fatty-acid oxidation disorders (FAODs) are recessive genetic diseases. MATERIALS AND METHODS: We report here clinical and paraclinical data from a retrospective study of 44 adults with muscular FAODs from six French reference centers for neuromuscular or metabolic diseases. RESULTS: The study cohort consisted of 44 adult patients: 14 with carnitine palmitoyl transferase 2 deficiency (32%), nine with multiple acyl-CoA deficiency (20%), 13 with very long-chain acyl-CoA dehydrogenase deficiency (30%), three with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (7%), and five with short-chain acyl-CoA dehydrogenase deficiency (11%). Disease onset occurred during childhood in the majority of patients (59%), with a mean age at onset of 15 years (range = 0.5-35) and a mean of 12.6 years (range = 0-58) from disease onset to diagnosis. The principal symptoms were acute muscle manifestations (rhabdomyolysis, exercise intolerance, myalgia), sometimes associated with permanent muscle weakness. Episodes of rhabdomyolysis were frequent (84%), with a mean creatinine kinase level of 68,958 U/L (range = 660-300,000). General metabolic complications were observed in 58% of patients, respiratory manifestations in 18% of cases, and cardiological manifestations in 9% of cases. Fasting acylcarnitine profile was used to orient genetic explorations in 65% of cases. After a mean follow-up of 10 years, 33% of patients were asymptomatic and 56% continued to display symptoms after exercise. The frequency of rhabdomyolysis decreased after diagnosis in 64% of cases. CONCLUSION: A standardized register would complete this cohort description of muscular forms of FAODs with exhaustive data, making it possible to assess the efficacy of therapeutic protocols in real-life conditions and during the long-term follow-up of patients.
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Doenças Mitocondriais , Doenças Musculares , Rabdomiólise , Adulto , Humanos , Lactente , Pré-Escolar , Criança , Adolescente , Adulto Jovem , Estudos Retrospectivos , Doenças Musculares/complicações , Doenças Mitocondriais/complicações , PrognósticoRESUMO
Rheumatoid meningitis (RM) is a rare extra-articular manifestation of rheumatoid arthritis (RA) that has been increasingly recognized by neurologists. However, the diversity of its clinical manifestations makes its diagnosis difficult. RM does not have a unified diagnostic standard, and its link with RA needs to be studied further. Here we report two cases of RM without a history of RA. The first patient, an 80-year-old woman, presented with sudden unilateral limb weakness, with brain MR showing abnormal signals in the leptomeningeal of the right frontal parietal. Subarachnoid hemorrhage was excluded after imaging examination, and infectious meningitis was ruled out after cerebrospinal fluid (CSF) examination. The patient was diagnosed as having RM, she had increased levels of CCP and AKA, the markers of RA, but no history of the disease or other clinical manifestations of it. Another case, a 65-year-old man, was hospitalized with Bell's palsy. We found that he had intracranial imaging changes highly consistent with those characteristic of RM during his routine examination. Except for the left peripheral facial palsy, the patient had no other neurological signs or symptoms and no RA history. After a careful physical examination, we found no joint or other manifestations or serological abnormalities consistent with RA (RF, CCP, AKA, etc.). However, after excluding infection meningitis and considering the patient's unique imaging results, we diagnosed him as having RM. We report these two cases as references for clinical diagnosis and treatment of RM, providing a discussion of our rationale.
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Artrite Reumatoide , Meningite , Humanos , Feminino , Artrite Reumatoide/complicações , Artrite Reumatoide/diagnóstico , Idoso de 80 Anos ou mais , Meningite/diagnóstico , Meningite/complicações , Idoso , Masculino , Imageamento por Ressonância MagnéticaRESUMO
Brucellosis, a zoonotic disease caused by Brucella species, poses a significant global health concern. Among its diverse clinical manifestations, neurobrucellosis remains an infrequent yet debilitating complication. Here, we present a rare case of neurobrucellosis with unusual presentations in a 45-year-old woman. The patient's clinical course included progressive lower extremity weakness, muscle wasting, and double vision, prompting a comprehensive diagnostic evaluation. Notable findings included polyneuropathy, elevated brucella agglutination titers in both cerebrospinal fluid and blood, abnormal EMG-NCV tests, and resolving symptoms with antibiotic therapy. The clinical presentation, diagnostic challenges, and differentiation from other neurological conditions are discussed. This case underscores the importance of considering neurobrucellosis in regions where brucellosis is prevalent and highlights this rare neurological complication's distinctive clinical and radiological features. Early recognition and appropriate treatment are crucial to mitigate the significant morbidity associated with neurobrucellosis.
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Brucelose , Polirradiculoneuropatia , Humanos , Feminino , Brucelose/diagnóstico , Brucelose/complicações , Brucelose/tratamento farmacológico , Pessoa de Meia-Idade , Polirradiculoneuropatia/diagnóstico , Polirradiculoneuropatia/microbiologia , Antibacterianos/uso terapêutico , Brucella/isolamento & purificaçãoRESUMO
BACKGROUND: Approximately one in three survivors of critical illness suffers from intensive-care-unit-acquired weakness, which increases mortality and impairs quality of life. By counteracting immobilization, a known risk factor, active mobilization may mitigate its negative effects on patients. In this single-center trial, the effect of robotic-assisted early mobilization in the intensive care unit (ICU) on patients' outcomes was investigated. METHODS: We enrolled 16 adults scheduled for lung transplantation to receive 20 min of robotic-assisted mobilization and verticalization twice daily during their first week in the ICU (intervention group: IG). A control group (CG) of 13 conventionally mobilized patients after lung transplantation was recruited retrospectively. Outcome measures included the duration of mechanical ventilation, length of ICU stay, muscle parameters evaluated by ultrasound, and quality of life after three months. RESULTS: During the first week in the ICU, the intervention group received a median of 6 (interquartile range 3-8) robotic-assisted sessions of early mobilization and verticalization. There were no statistically significant differences in the duration of mechanical ventilation (IG: median 126 vs. CG: 78 h), length of ICU stay, muscle parameters evaluated by ultrasound, and quality of life after three months between the IG and CG. CONCLUSION: In this study, robotic-assisted mobilization was successfully implemented in the ICU setting. No significant differences in patients' outcomes were observed between conventional and robotic-assisted mobilization. However, randomized and larger studies are necessary to validate the adequacy of robotic mobilization in other cohorts. TRIAL REGISTRATION: This single-center interventional trial was registered in clinicaltrials.gov as NCT05071248 on 27/08/2021.
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Deambulação Precoce , Procedimentos Cirúrgicos Robóticos , Adulto , Humanos , Estudos Retrospectivos , Qualidade de Vida , Estudos de Coortes , Estudos Prospectivos , Grupos Controle , Unidades de Terapia Intensiva , Respiração Artificial , Estado Terminal/terapiaRESUMO
PURPOSE: Survival rates for children diagnosed with acute lymphoblastic leukemia (ALL) have increased significantly over recent decades, and thus attention shifted toward understanding the adverse effects of cancer treatment. Chemotherapy has side effects that could affect muscle state and diminish motor performance. This scoping review was conducted to map the breadth of evidence for different tools used in fine motor skills assessment, the extent of upper extremity strength, and fine motor performance, highlighting the potential risk factors that may influence these skills. METHODS: In March 2023, full-text studies that examined fine motor performance and/or upper extremity strength were identified via searches in PubMed, Science Direct, Scopus, Web of Science, and PEDro databases. The titles and abstracts of selected studies were screened according to the inclusion and exclusion criteria. RESULTS: The search yielded initial 418 citations and 26 peer-reviewed articles were finally included in the review. Considerable heterogeneity was observed regarding the methods of evaluating fine motor skills. The results of this review indicate that children and adolescents with ALL experienced fine motor limitations and upper extremity weakness either during or after cessation of treatment. CONCLUSION: This scoping review presents a broad overview of the literature addressing fine motor difficulties in the pediatric population with ALL. Results accentuate the need to incorporate strengthening and occupational therapy training to preserve muscle strength and minimize future fine motor problems along the course of chemotherapeutic treatment. Little evidence was reported regarding the risk factors that may impair muscle strength and motor performance.
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Destreza Motora , Leucemia-Linfoma Linfoblástico de Células Precursoras , Humanos , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Criança , Destreza Motora/fisiologia , Adolescente , Força Muscular/fisiologia , Antineoplásicos/efeitos adversos , Fatores de Risco , Extremidade Superior/fisiopatologiaRESUMO
INTRODUCTION: Routine blood factors can be economical and easily accessible candidates for sarcopenia screening and monitoring. The associations between sarcopenia and routine blood factors remain unclear. This study aimed to examine sarcopenia and blood factor associations based on a nation-wide cohort in China. METHODS: A total of 1,307 participants and 17 routine blood indices were selected from two waves (year 2011 and year 2015) of the China Health and Retirement Longitudinal Study (CHARLS). The diagnosis of sarcopenia was based on the criteria proposed by the Asian Working Group for Sarcopenia (AWGS 2019). Generalized mixed-effects models were performed for association analyses. A logistic regression (LR) model was conducted to examine the predictive power of identifying significant blood factors for sarcopenia. RESULTS: A higher sarcopenia risk was cross-sectionally associated with elevated blood concentrations of high-sensitivity C-reactive protein (hsCRP) (OR = 1.030, 95% CI [1.007, 1.053]), glycated hemoglobin (HbA1c) (OR = 1.407, 95% CI [1.126, 1.758]) and blood urea nitrogen (BUN) (OR = 1.044, 95% CI [1.002, 1.089]), and a decreased level of glucose (OR = 0.988, 95% CI [0.979, 0.997]). A higher baseline hsCRP value (OR = 1.034, 95% CI [1.029, 1.039]) and a greater over time change in hsCRP within 4 years (OR = 1.034, 95% CI [1.029, 1.039]) were associated with a higher sarcopenia risk. A higher BUN baseline value was related to a decreased sarcopenia risk over time (OR = 0.981, 95% CI [0.976, 0.986]), while a greater over time changes in BUN (OR = 1.034, 95% CI [1.029, 1.040]) and a smaller over time change in glucose (OR = 0.992, 95% CI [0.984, 0.999]) within 4 years were also related to a higher sarcopenia risk. LR based on significant blood factors (i.e., hsCRP, HbA1c, BUN, and glucose), and sarcopenia status in year 2015 yielded an area under the curve of 0.859 (95% CI: 0.836-0.882). CONCLUSION: Routine blood factors involved in inflammation, protein metabolism, and glucose metabolism are significantly associated with sarcopenia. In clinical practice, plasma hsCRP, BUN, blood sugar levels, sex, age, marital status, height, and weight might be helpful for sarcopenia evaluation and monitoring.
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Proteína C-Reativa , Vida Independente , Sarcopenia , Humanos , Sarcopenia/sangue , Sarcopenia/epidemiologia , Sarcopenia/diagnóstico , Masculino , China/epidemiologia , Feminino , Estudos Longitudinais , Idoso , Vida Independente/estatística & dados numéricos , Proteína C-Reativa/análise , Pessoa de Meia-Idade , Estudos Transversais , Hemoglobinas Glicadas/análise , Nitrogênio da Ureia Sanguínea , Aposentadoria , Fatores de Risco , Modelos LogísticosRESUMO
OBJECTIVE: To provide an update on risk factors associated with falls and injurious falls among people with multiple sclerosis (PwMS) in the United States. DESIGN: Nationwide cross-sectional web-based survey. SETTING: Community setting. PARTICIPANTS: Adult PwMS (n=965). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Participants completed self-report surveys of demographics, clinical data, concerns about falling, occurrence of falls, factors associated with falls, and injurious falls in the past 6 months. Participants also completed Patient-Reported Outcomes Measurement Information System (PROMIS) measures of depression, pain interference, and physical function, and the Fatigue Severity Scale. RESULTS: The most common self-reported factors associated with falls included personal factors such as poor balance (75%), muscle weakness (54%), and/or fatigue (35%), environmental factors such as general surface conditions (37%) and/or distraction (15%), and activities-related factors such as urgency to complete a task (35%) and/or multitasking (27%). Logistic regression analyses indicated that higher fatigue severity (OR=1.19, P<.01) and higher pain interference (OR=1.02, P<.01) were associated with higher odds of experiencing at least 1 fall. Any level of concern, even minimal concern about falling was also significantly associated with a higher odd of experiencing at least 1 fall (ORs range 2.78 - 3.95, all P<.01). Fair to very high concerns about falling compared with no concern about falling (ORs range=5.17 - 10.26, all P<.05) was significantly associated with higher odds of sustaining an injurious fall. CONCLUSIONS: Findings suggest falls prevention approaches in PwMS should be multifactorial and include personal, environmental, and activities-related factors. Particular attention on fatigue, pain, and concern about falling may be needed to reduce incidence of falls and injurious falls in this population.
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Esclerose Múltipla , Adulto , Humanos , Estudos Transversais , Fatores de Risco , Fadiga/epidemiologia , Dor/epidemiologia , Dor/complicaçõesRESUMO
BACKGROUND: Intensive care acquired muscle weakness is a common feature in critically ill patients. Beyond the therapeutic uses, FES-cycling could represent a promising nonvolitional evaluation method for detecting acquired muscle weakness. OBJECTIVES: To assess whether FES-cycling is able to identify muscle dysfunctions, and to evaluate the survival rate in patients with detected muscle dysfunction. METHODS: A prospective observational study was carried out, with 29 critically ill patients and 20 healthy subjects. Maximum torque and power achieved were recorded, in addition to the stimulation cost, and patients were followed up for six months. RESULTS: Torque (2.64 [1.53 to 4.81] vs 6.03 [4.56 to 6.73] Nm) and power (3.31 [2.33 to 6.37] vs 6.35 [5.22 to 10.70] watts) were lower and stimulation cost (22 915 [5069 to 37 750] vs 3411 [2080 to 4024] µC/W) was higher in patients compared to healthy people (p < 0.05). Surviving patients showed a nonsignificant difference in power and torque in relation to nonsurvivors (p > 0.05), but they had a lower stimulation cost (4462 [3598 to 11 788] vs 23 538 [10 164 to 39 836] µC/W) (p < 0.05). In total, 34% of all patients survived during the six months of follow-up. Furthermore, 62% of patients with a stimulation cost below 15 371 µC/W and 7% of patients with a stimulation cost above 15 371 µC/W survived. CONCLUSIONS: FES-cycling has good sensitivity and specificity for detecting muscle disorders. Critical patients have low torque and power and a high stimulation cost. Stimulation cost is related to survival. A low stimulation cost was related to a 3 times greater chance of survival.
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Terapia por Estimulação Elétrica , Respiração Artificial , Humanos , Ciclismo/fisiologia , Estado Terminal/terapia , Estimulação Elétrica , Terapia por Estimulação Elétrica/métodos , Debilidade Muscular/terapia , Estudos ProspectivosRESUMO
BACKGROUND: A nonvolitional diagnostic method based on FES-Cycling technology has recently been demonstrated for mechanically ventilated patients. This method presents good sensitivity and specificity for detecting muscle dysfunction and survival prognosis, even in unconscious patients. As the clinical relevance of this method has already been reported, we aimed to evaluate its safety and feasibility. METHODS: An observational prospective study was carried out with 20 critically ill, mechanically ventilated patients. The FES-cycling equipment was set in a specific diagnostic mode. For safety determination, hemodynamic parameters and peripheral oxygen saturation were measured before and immediately after the diagnostic protocol, as well as venous oxygen saturation and blood lactate. The creatine phosphokinase level (CPK) was measured before and 24, 48, and 72 h after the test. The time taken to carry out the entire diagnostic protocol and the number of patients with visible muscle contraction (capacity of perceptive muscular recruitment) were recorded to assess feasibility. RESULTS: Heart rate [91 ± 23 vs. 94 ± 23 bpm (p = 0.0837)], systolic [122 ± 19 vs. 124 ± 19 mm Hg (p = 0.4261)] and diastolic blood pressure [68 ± 13 vs. 70 ± 15 mm Hg (p = 0.3462)], and peripheral [98 (96-99) vs. 98 (95-99) % (p = 0.6353)] and venous oxygen saturation [71 ± 14 vs. 69 ± 14% (p = 0.1317)] did not change after the diagnostic protocol. Moreover, blood lactate [1.48 ± 0.65 vs. 1.53 ± 0.71 mmol/L (p = 0.2320)] did not change. CPK did not change up to 72 h after the test [99 (59-422) vs. 125 (66-674) (p = 0.2799) vs. 161 (66-352) (p > 0.999) vs. 100 (33-409) (p = 0.5901)]. The time taken to perform the diagnostic assessment was 11.3 ± 1.1 min. In addition, 75% of the patients presented very visible muscle contractions, and 25% of them presented barely visible muscle contractions. CONCLUSIONS: The FES cycling-based muscular dysfunction diagnostic method is safe and feasible. Hemodynamic parameters, peripheral oxygen saturation, venous oxygen saturation, and blood lactate did not change after the diagnostic protocol. The muscle damage marker (CPK) did not increase up to 72 h after the diagnostic protocol.
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Estudos de Viabilidade , Respiração Artificial , Humanos , Masculino , Pessoa de Meia-Idade , Feminino , Estudos Prospectivos , Idoso , Respiração Artificial/efeitos adversos , Respiração Artificial/métodos , Estado Terminal , Hemodinâmica , Estimulação Elétrica/métodos , Ácido Láctico/sangue , Músculo Esquelético/fisiopatologia , Adulto , Saturação de Oxigênio , Contração Muscular , Creatina Quinase/sangueRESUMO
Hirayama disease is a self-limiting cervical motor neuron disease, usually affecting the spinal cord at level C7-T1. We share an unusual case of Hirayama disease in a young man affecting roots C4-C6. He presented in coma due to diaphragm weakness and hypercapnic respiratory failure. Diagnosis was achieved via clinical presentation, neurophysiological examination, ultrasonography of the diaphragm and dynamic MR-imaging. Conservative treatment with a cervical collar resulted in remarkable improvement in respiratory and motor function.
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Insuficiência Respiratória , Compressão da Medula Espinal , Atrofias Musculares Espinais da Infância , Masculino , Humanos , Atrofias Musculares Espinais da Infância/complicações , Atrofias Musculares Espinais da Infância/terapia , Atrofias Musculares Espinais da Infância/diagnóstico , Imageamento por Ressonância Magnética , Insuficiência Respiratória/etiologia , Insuficiência Respiratória/terapiaRESUMO
INTRODUCTION: Botulism is a serious condition that carries with it a high rate of morbidity and mortality. OBJECTIVE: This review highlights the pearls and pitfalls of botulism, including presentation, diagnosis, and management in the emergency department (ED) based on current evidence. DISCUSSION: Botulism is a neuromuscular disorder caused by toxin production of clostridium species bacteria and is a challenging diagnosis that mimics several other conditions. Children account for the majority of patients, with a foodborne source most common, followed by wound sources, typically from intravenous drug injection. Classically, patients with botulism develop bilateral cranial nerve palsies and symmetric, bilateral, descending paralysis. However, patients may initially present with vague symptomatology, such as weakness and dry mouth, which can make diagnosis challenging. A careful history elucidating exposures such as intravenous drug use or consumption of non-commercial canned products can help differentiate botulism from other disorders causing neuromuscular weakness. If suspected, the Centers for Disease Control should be notified to mobilize antitoxin for treatment as soon as the diagnosis is suspected even prior to confirmatory testing. Antibiotics should be avoided in these patients, as they can potentiate toxin release, unless there is a concomitant infection requiring antibiotic therapy. Patients with botulism can develop respiratory compromise requiring emergent airway management. Prolonged neuromuscular blockade from botulism will lead to a variety of symptoms that require comprehensive intensive care unit level care. CONCLUSION: An understanding of botulism and its many potential mimics can assist emergency clinicians in diagnosing and managing this deadly disease.
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Botulismo , Botulismo/diagnóstico , Botulismo/epidemiologia , Botulismo/terapia , Humanos , Serviço Hospitalar de Emergência , Prevalência , Diagnóstico DiferencialRESUMO
BACKGROUND: Early diagnosis and control of risk factors affecting frailty syndrome (FS) in older adults may lead to changes in the health/disease process, prevention of disability and dependency in the older adults, and reduction of health care costs and mortality rates. The aim of this study was to determine the predictive role of CVD risk factors and FS in community-dwelling older adults of Amirkola city in Iran. METHODS: This descriptive-analytic cross-sectional study is part of the second phase of the Amirkola Health and Aging Project (AHAP) cohort study conducted since 2011 on all individuals ≥ 60 years in the city of Amirkola in northern Iran. Totally, 1000 older adults were included in the study and divided into three groups: frail (n = 299), pre-frail (n = 455), and non-frail (n = 246) older adults. In the present study, age ≥ 60 years, female sex, fasting blood sugar (FBS) ≥ 126 mg/dl, affected diabetes mellitus (DM), body mass index (BMI) ≥ 27 kg/m², waist circumference (WC) or abdominal obesity > 102 cm in men and > 88 cm in women, low-density lipoprotein (LDL) > 100 mg/dl, triglyceride > 150 mg/dl, cholesterol > 200 mg/dl, high-density lipoprotein (HDL) < 40 mg/dl and blood pressure (BP) > 90/140 mmHg, uric acid > 7 mg/dl and a positive smoking history were considered CVD risk factors. RESULTS: The results showed that with each centimeter increase in WC, the odds of frailty compared with non-frailty was 79% higher, and the odds of frailty compared with pre-frailty was 1.43 times higher in older adults. In addition, the prevalence of pre-frailty compared with non-frailty, pre-frailty, and non-frailty was 10.59 times, 6.08 times, and 73.83 times higher in older individuals > 84 years old, respectively. The results of the present study indicated that the prevalence of pre-frailty compared with non-frailty, frailty compared with pre-frailty, and frailty compared with non-frailty was 2.86 times, 3.01 times, and 14.83 times higher in older adults women, respectively. The comparison between frail and non-frail groups represented that in DM older adults, the prevalence of frailty compared with non-frailty was 1.84 times higher and that of frailty compared with pre-frailty was 98% higher. The older adults with an FBS ≥ 126 mg/dl were 53% more likely to become frail, and with each unit increase in uric acid, the odds of becoming frail increased 2.05 times compared with non-frail older adults, and pre-frail compared with non-frail increased 99%. CONCLUSION: The results demonstrated that CVD risk factors predictive of FS included central obesity, age > 84 years, female sex, DM, FBS ≥ 126, and uric acid > 7. This problem highlights the need for preventive strategies in the older adults who are simultaneously vulnerable to CVD and frailty.
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Doenças Cardiovasculares , Fragilidade , Vida Independente , Humanos , Masculino , Feminino , Idoso , Estudos Transversais , Estudos de Coortes , Vida Independente/tendências , Fragilidade/epidemiologia , Fragilidade/diagnóstico , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/diagnóstico , Pessoa de Meia-Idade , Idoso de 80 Anos ou mais , Irã (Geográfico)/epidemiologia , Idoso Fragilizado , Fatores de Risco , Fatores de Risco de Doenças Cardíacas , Envelhecimento/fisiologiaRESUMO
BACKGROUND: Patients with congenital myopathies may experience respiratory involvement, resulting in restrictive ventilatory dysfunction and respiratory failure. Pulmonary hypertension (PH) associated with this condition has never been reported in congenital ryanodine receptor type 1(RYR1)-related myopathy. CASE PRESENTATION: A 47-year-old woman was admitted with progressively exacerbated chest tightness and difficulty in neck flexion. She was born prematurely at week 28. Her bilateral lower extremities were edematous and muscle strength was grade IV-. Arterial blood gas analysis revealed hypoventilation syndrome and type II respiratory failure, while lung function test showed restrictive ventilation dysfunction, which were both worse in the supine position. PH was confirmed by right heart catheterization (RHC), without evidence of left heart disease, congenital heart disease, or pulmonary artery obstruction. Polysomnography indicated nocturnal hypoventilation. The ultrasound revealed reduced mobility of bilateral diaphragm. The level of creatine kinase was mildly elevated. Magnetic resonance imaging showed myositis of bilateral thigh muscle. Muscle biopsy of the left biceps brachii suggested muscle malnutrition and congenital muscle disease. Gene testing revealed a missense mutation in the RYR1 gene (exon33 c.C4816T). Finally, she was diagnosed with RYR1-related myopathy and received long-term non-invasive ventilation (NIV) treatment. Her symptoms and cardiopulmonary function have been greatly improved after 10 months. CONCLUSIONS: We report a case of RYR1-related myopathy exhibiting hypoventilation syndrome, type II respiratory failure and PH associated with restrictive ventilator dysfunction. Pulmonologists should keep congenital myopathies in mind in the differential diagnosis of type II respiratory failure, especially in patients with short stature and muscle weakness.
Assuntos
Hipertensão Pulmonar , Debilidade Muscular , Insuficiência Respiratória , Canal de Liberação de Cálcio do Receptor de Rianodina , Humanos , Feminino , Canal de Liberação de Cálcio do Receptor de Rianodina/genética , Pessoa de Meia-Idade , Debilidade Muscular/etiologia , Hipertensão Pulmonar/etiologia , Hipertensão Pulmonar/genética , Insuficiência Respiratória/etiologia , Mutação de Sentido Incorreto , Imageamento por Ressonância Magnética , Doenças Musculares/genética , Doenças Musculares/diagnóstico , Doenças Musculares/complicaçõesRESUMO
BACKGROUND: Kawasaki disease (KD) is an acute systemic immune vasculitis affecting multiple organs and systems in children, and is prevalent in children under 5 years of age. Muscular weakness is a rare manifestation of KD, and only 11 pediatric patients with KD combined with muscular weakness have been reported, of which evidence of myositis was found in 2/3 of the patients, and 1/3 could not be explained by myositis, the mechanism of which is still unclear. Cases of KD combined with bladder retention are even more rare, and there has been only 1 case report of KD combined with bladder retention in a child with no previous underlying disease. CASE PRESENTATION: We report a 22-month-old Asian child with incomplete Kawasaki disease (IKD) who initially presented with fever and progressive muscular weakness in the lower extremities, followed by the bladder and bowel retention abnormalities and rapid onset of heart failure, respiratory failure and shock. The child developed coronary artery ectasia (CAA) without the main clinical features of KD such as rash, conjunctival congestion, desquamation of the extremity endings, orofacial changes and enlarged lymph nodes in the neck. Creatine kinase and electromyography were normal. Temperature gradually normalized and muscle strength recovered slightly after intravenous immunoglobulin. The child could be helped to walk after 1 week of aspirin combined with steroid therapy. CONCLUSIONS: We present the case of a 22-month-old child with IKD. The child began with progressive muscular weakness in the extremities, followed by the bladder and bowel retention abnormalities, and rapidly developed heart failure, respiratory failure, and shock. Despite early failure to detect the disease, the child recovered rapidly and had a favorable prognosis. KD comorbidities with muscular weakness as the main manifestation are uncommon. This is the first case report of IKD combined with both muscular weakness and bladder and bowel retention, which may provide clinicians with diagnostic and therapeutic ideas, as well as a basis for future exploration of the mechanisms of KD combined with muscular weakness or bladder and bowel retention abnormalities.
Assuntos
Síndrome de Linfonodos Mucocutâneos , Debilidade Muscular , Retenção Urinária , Humanos , Lactente , Imunoglobulinas Intravenosas/uso terapêutico , Síndrome de Linfonodos Mucocutâneos/complicações , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Debilidade Muscular/etiologia , Retenção Urinária/etiologiaRESUMO
Acute generalised muscle weakness in children is a paediatric emergency with a broad differential diagnosis. A careful history and neurologic examination guides timely investigation and management. We review some of the more common causes of acute generalised muscle weakness in children, highlighting key history and examination findings, along with an approach to lesion localisation to guide differential diagnosis and further investigation.