Pain and Fatigue Perceptions of Patients with Systemic Autoimmune Myopathies before and during the COVID-19 Pandemic Period

Objective: To assess general pain and fatigue and their association with the disease status of patients with systemic autoimmune myopathies (SAMs), in terms of the impact of the COVID-19 pandemic on these parameters. Methods: This is a cross-sectional and prospective cohort study that included 72 patients with SAMs who were matched by age and gender with 67 healthy individuals. The patients engaged in an interview via a validity survey to measure disease status, and assess a visual analog scale (VAS) for pain and fatigue in two periods: before (phase I) and during (phase II) of the Brazilian COVID-19 pandemic. For cross-sectional analysis, patients’ data from phase I were compared to healthy individuals’ information, whereas for prospective analysis, data of the patients who were assessed in phase II were compared to the same patients’ data from phase I. Results: The patients had significantly more pain perception, comparable fatigue perception and fatigue severity, when compared to the healthy individuals. During the COVID-19 pandemic period, the disease activity, pain and fatigue perceptions, and fatigue severity remained unchanged. Despite this, the pain and fatigue perceptions correlated significantly with patients’ VAS, the patient health outcome, and fatigue severity. In addition, the pain perception correlated to creatine phosphokinase, whereas fatigue perceptions correlated to physicians' VAS. Conclusions: The study showed that patients with SAMs have significantly increased pain perceptions compared to healthy individuals. During the COVID-19 pandemic period, the pain and fatigue perceptions remained unchanged in patients with SAMs but they correlated to several disease status parameters.

“Target” and “Sandwich” Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies

Background： Collagen Vl-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy （UCMD） and Bethlem myopathy （BM）. Muscle magnetic resonance imaging （MRI） has been widely used to diagnosis muscular disorders. The purpose of this study was to evaluate the diagnostic value of thigh muscles MRI for collagen VI-related myopathies. Methods： Eleven patients with collagen VI gene mutation-related myopathies were enrolled in this study. MRI of the thigh muscles was performed in all patients with collagen VI gene mutation-related myopathies and in 361 patients with other neuromuscular disorders （disease controls）. Tl-weighted images were used to assess fatty infiltration of the muscles using a modified Mercuri＇s scale. We assessed the sensitivity and specificity of the MRI features of collagen Vl-related myopathies. The relationship between fatty infiltration of muscles and specific collagen VI gene mutations was also investigated. Results： Eleven patients with collagen VI gene mutation-related rnyopathies included six UCMD patients and five BM patients. There was no significant difference between UCMD and BM patients in the fatty infiltration of each thigh muscle except sartorius （P = 0.033）： theretbre, we combined the UCMD and BM data. Mean fatty infiltration scores were 3.1 and 3.0 in adductor magnus and gluteus maximus, while the scores were 1.3, 1.3, and 1.5 in gracilis, adductor longus, and sartorius, respectively. A “target” sign in rectus femoris （RF） was present in seven cases, and a “sandwich” sign in vastus lateralis （VL） was present in ten cases. The “target” and “sandwich” signs had sensitivities of 63.6% and 90.9% and specificities of 97.3% and 96,9% for the diagnosis of collagen Vl-related myopathies, respectively. Fatty infiltration scores were 2.0-3.0 in seven patients with mutations in the triple-helical domain, and 1.0-1.5 in three of four patients with mutations in the N- or C-domain of the collagen VI genes. Conclusions： The “target” sign in RF and “sandwich” sign in VL are common MRI features and are useful for the diagnosis of collagen VI-related myopathies. The severity of fatty infiltration of muscles may have a relationship with the mutation location of collagen VI gene.

Intensive care unit-acquired weakness and mechanical ventilation:A reciprocal relationship

Intensive care unit-acquired weakness(ICU-AW;ICD-10 Code:G72.81)is a syndrome of generalized weakness described as clinically detectable weakness in critically ill patients with no other credible cause.The risk factors for ICU-AW include hyperglycemia,parenteral nutrition,vasoactive drugs,neuromuscular blocking agents,corticosteroids,sedatives,some antibiotics,immobilization,the disease severity,septicemia and systemic inflammatory response syndrome,multiorgan failure,prolonged mechanical ventilation(MV),high lactate levels,older age,female sex,and pre-existing systemic morbidities.There is a definite association between the duration of ICU stay and MV with ICU-AW.However,the interpretation that these are modifiable risk factors influencing ICU-AW,appears to be flawed,because the relationship between longer ICU stays and MV with ICU-AW is reciprocal and cannot yield clinically meaningful strategies for the prevention of ICU-AW.Prevention strategies must be based on other risk factors.Large multicentric randomized controlled trials as well as meta-analysis of such studies can be a more useful approach towards determining the influence of these risk factors on the occurrence of ICU-AW in different populations.

Intensive care unit-acquired weakness–preventive,and therapeutic aspects;future directions and special focus on lung transplantation

In this editorial,comments are made on an interesting article in the recent issue of the World Journal of Clinical Cases by Wang and Long.The authors describe the use of neural network model to identify risk factors for the development of intensive care unit(ICU)-acquired weakness.This condition has now become common with an increasing number of patients treated in ICUs and continues to be a source of morbidity and mortality.Despite identification of certain risk factors and corrective measures thereof,lacunae still exist in our understanding of this clinical entity.Numerous possible pathogenetic mechanisms at a molecular level have been described and these continue to be increasing.The amount of retrievable data for analysis from the ICU patients for study can be huge and enormous.Machine learning techniques to identify patterns in vast amounts of data are well known and may well provide pointers to bridge the knowledge gap in this condition.This editorial discusses the current knowledge of the condition including pathogenesis,diagnosis,risk factors,preventive measures,and therapy.Furthermore,it looks specifically at ICU acquired weakness in recipients of lung transplantation,because–unlike other solid organ transplants-muscular strength plays a vital role in the preservation and survival of the transplanted lung.Lungs differ from other solid organ transplants in that the proper function of the allograft is dependent on muscle function.Muscular weakness especially diaphragmatic weakness may lead to prolonged ventilation which has deleterious effects on the transplanted lung–ranging from ventilator associated pneumonia to bronchial anastomotic complications due to prolonged positive pressure on the anastomosis.

Advancing critical care recovery:The pivotal role of machine learning in early detection of intensive care unit-acquired weakness

This editorial explores the significant challenge of intensive care unit-acquiredweakness(ICU-AW),a prevalent condition affecting critically ill patients,characterizedby profound muscle weakness and complicating patient recovery.Highlightingthe paradox of modern medical advances,it emphasizes the urgent needfor early identification and intervention to mitigate ICU-AW's impact.Innovatively,the study by Wang et al is showcased for employing a multilayer perceptronneural network model,achieving high accuracy in predicting ICU-AWrisk.This advancement underscores the potential of neural network models inenhancing patient care but also calls for continued research to address limitationsand improve model applicability.The editorial advocates for the developmentand validation of sophisticated predictive tools,aiming for personalized carestrategies to reduce ICU-AW incidence and severity,ultimately improving patientoutcomes in critical care settings.

抗线粒体肌炎是一种具有独特临床特征的炎性肌病

特发性炎性肌病(idiopathic inflammatory myopathy,IIM)是一种以骨骼肌炎症损伤为特征并可累及全身多个系统包括皮肤、呼吸、心血管及消化等系统的自身免疫性疾病。IIM患者血清中可以检测到肌炎特异性抗体(myositis-specific antibodies,MSAs)和/或肌炎相关性抗体(myositis associated autoantibodies,MAAs)。不同MSAs MAAs的IIM患者临床特征呈现异质性。

Paraneoplastic myopathy-related rhabdomyolysis and pancreatic cancer:A case report and review of the literature

BACKGROUND Rhabdomyolysis is a life-threatening condition,often leading to progressive renal failure and death.It is caused by destruction of skeletal muscle and the release of myoglobin and other intracellular contents into the circulation.The most frequent cause of this condition is“crush syndrome”,although several others have been described and paraneoplastic inflammatory myopathies associated with various types of cancer are repeatedly reported.CASE SUMMARY We describe a rare case of a patient with pancreatic cancer who developed rhabdomyolysis early on,possibly due to paraneoplastic myositis leading to acute renal failure and eventually to rapid death.A 78-year-old Caucasian woman was referred to our hospital for obstructive jaundice and weight loss due to a lesion in the pancreatic head.She presented increasingly severe renal insufficiency with anuria,a dramatic increase in creatine phosphokinase(36000 U/L,n.v.20-180 U/L)and myoglobin(>120000μg/L,n.v.12-70μg/L).On clinical examination,the patient showed increasing pain in the lower limbs associated with muscle weakness which was severe enough to immobilize her.Paraneoplastic myopathy linked to the malignant lesion of the pancreatic head was suspected.The patient was treated with hemodialysis and intravenous methylprednisolone.Despite all the efforts to prepare the patient for surgery,her general condition rapidly deteriorated and she eventually died 30 d after hospital admission.CONCLUSION The possible causes of rhabdomyolysis in this patient with pancreatic cancer are discussed,the development of paraneoplastic myopathy being the most likely.Clinicians should bear in mind that these syndromes may become clinically manifest at any stage of the cancer course and their early diagnosis and treatment could improve the patient’s prognosis.

糖皮质激素诱发类固醇肌病的研究现状

糖皮质激素作为一种抗炎及免疫抑制剂,是各种自身免疫性疾病的重要药物。但如果使用不当或在少数敏感个体中使用,则可诱发类固醇肌病(steroid myopathy, SM)。糖皮质激素过量是导致肌肉萎缩的关键因素,近年来研究者越来越关注糖皮质激素对肌肉的影响,加大了对SM发病机制及诊断的研究,促进对整个类固醇肌病的了解。下列对该病整体认识进行综述如下。

Association between the Lung Immune Prognostic Index and mortality in patients with idiopathic inflammatory myopathy-associated interstitial lung disease

Objective:To explore the association between the Lung Immune Prognostic Index(LIPI)and 1-year all-cause mortality in patients with idiopathic inflammatory myopathy related interstitial lung disease(IIM-ILD).Methods:Patients who were diagnosed with IIM-ILD at West China Hospital,Sichuan University from January 2008 to December 2021 were retrospectively included and categorized into three groups based on LIPI.Univariable and multivariable Cox proportional hazards models were conducted to explore potential association between the LIPI and patients'mortality.Results:A total of 1116 patients were screened,and 830 were included in this study.The multivariable Cox analysis showed that,compared with patients with poor LIPI,the hazard ratio(HR)for all-cause 1-year mortality was 0.22(95%CI 0.05-0.93,P=0.04)for patients in the good LIPI group(LDH<250 IU/L and dNLR<3).After excluding patients lost to follow-up within one year,a similar result was found for LIPI(HR 0.20,95%CI 0.05-0.86;P=0.03).Conclusions:Good LIPI was independently associated with decreased risk of all-cause 1-year mortality in patients with IIM-ILD.This easy-to-obtain index might be served as a potential marker for assessing the prognosis of IIM-ILD.

Immune-mediated necrotizing myopathy:Report of two cases

BACKGROUND Immune-mediated necrotizing myopathy is a rare autoimmune myopathy characterized by muscle weakness and elevated serum creatine kinase,with unique skeletal muscle pathology and magnetic resonance imaging features.CASE SUMMARY In this paper,two patients are reported:One was positive for anti-signal recognition particle antibody,and the other was positive for anti-3-hydroxy-3-methylglutaryl coenzyme A reductase antibody.CONCLUSION The clinical characteristics and treatment of the two patients were analysed,and the literature was reviewed to improve the recognition,diagnosis,and treatment of this disease.

Treatment of a patient with severe lactic acidosis and multiple organ failure due to mitochondrial myopathy:A case report

BACKGROUND Mitochondrial myopathy is a rare genetic disease with maternal inheritance that may involve multiple organ systems.Due to the lack of typical characteristics,its clinical diagnosis is difficult,and it is often misdiagnosed or even missed.CASE SUMMARY The patient was a young college student.When he presented at the hospital,he had severe lactic acidosis,respiratory failure,and shock with multiple organ dysfunction syndrome(MODS).He was treated by mechanical ventilation,venoarterial extracorporeal membrane oxygenation,and other organ support.However,his condition continued to worsen.After a thorough and detailed medical and family history was taken,a mitochondrial crisis was suspected.A muscle biopsy was taken.Further genetic testing confirmed a mitochondrial gene mutation(TRNL13243A>G).The final diagnosis of mitochondrial myopathy was made.Although there is no known specific treatment,intravenous methylprednisone and intravenous immunoglobulin were started.The patient’s shock eventually improved.The further course was complicated by severe infection in multiple sites,severe muscle weakness,and recurrent MODS.After 2 mo of multidisciplinary management and intensive rehabilitation,the patient could walk with assistance 4 mo after admission and walk independently 6 mo after admission.CONCLUSION More attention should be paid to mitochondrial myopathy to avoid missed diagnosis and misdiagnosis.

戊二酸尿症Ⅱ型合并脂质沉积性肌病1例

戊二酸尿症Ⅱ型（glutaric aciduria typeⅡ,GAⅡ）合并脂质沉积性肌病（lipid storage myopathy,LSM）临床少见,常被误诊,首都医科大学附属北京儿童医院风湿科报道1例此病的完整资料,以增加对此病的认识。

Exertional rhabdomyolysis and heat stroke: Beware of volatile anesthetic sedation

In view of the enormous popularity of mass sporting events such as half-marathons, the number of patients with exertional rhabdomyolysis or exercise-induced heat stroke admitted to intensive care units(ICUs) has increased over the last decade. Because these patients have been reported to be at risk for malignant hyperthermia during general anesthesia, the intensive care community should bear in mind that the same risk of life-threatening rhabdomyolysis is present when these patients are admitted to an ICU, and volatile anesthetic sedation is chosen as the sedative technique. As illustrated by the three case studies we elaborate upon, a thorough diagnostic work-up is needed to clarify the subsequent risk of strenuous exercise, and the anesthetic exposure to volatile agents in these patients and their families. Other contraindications for the use of volatile intensive care sedation consist of known malignant hyperthermia susceptibility, congenital myopathies, Duchenne muscular dystrophy, and intracranial hypertension.

危重症肌病的研究进展

危重症肌病（critical illness myopathy，CIM）是危重症患者一种获得性的肌肉病变，是重症监护病房中患者常见的并发症之一，患者常表现为四肢肌肉及呼吸肌疲劳无力，肌肉萎缩，是导致危重症患者无法早期脱离呼吸机的重要原因。危重症患者每天可丢失1．5kg骨骼肌，2周后总的肌肉质量丢失可达50％以上，肌肉萎缩无力可引起呼吸衰竭，从而严重威胁患者的生命。CIM除延长机械通气和住院的时间外，还会增加危重症患者的病死率和致残率，因此近20年CIM越来越为重症医学所重视。

心电图结合超声心动图在心尖肥厚型心肌病诊断中的应用

临床上一般认为，心尖肥厚型心肌病（apical hypertrophic cardio myopathy，AHCM）的发病率为8．1％～26．5％，约50％以上的患者具有明显的家族史11I。AHCM并不常伴有左室流出道压差，与经典的肥厚型心肌病略有不同。本文旨在探讨心电图结合超声心动图在心尖肥厚型心肌病诊断中的应用价值，现将结果报道如下。

多发性肌炎和皮肌炎的研究现状

多发性肌炎（polymyositis，PM）和皮肌炎（dematomyositis，DM）均属特发性炎性肌病（idiopathic inflammatory myopathy，IIM）。此外，IIM还包括包涵体肌炎（inclusion body myositis，IBM）。目前认为PM和DM属于自身免疫性疾病，IBM的免疫反应继发于骨骼肌细胞的退行性变。现主要介绍对PM和DM的一些认识。

脂质沉积性肌病诊断及随访分析

自1973年Engel和Angelini首次报道脂质沉积性肌病（Lipid storage myopathy,LSM）以来,关于该病的散发报道日渐增多,我们总结了7例LSM患者临床及随访资料并复习文献,以加深对此病的认识。

杆状体肌病伴先天性腭裂1例并文献复习

杆状体肌病（nemaline myopathy,NM）是一类少见的具有临床和遗传异质性的先天性肌肉疾病,形态学上特征性的表现为肌纤维中大量杆状物质的异常沉积。本病以肌无力为主要临床表现,多累及四肢近端、面肌、颈屈肌、呼吸肌等。目前发现与此类疾病相关的基因有ACTA1、NEB、TPM3、TPM2、TNNT1、CFL2、KBTBD13和KLHL40。

自身抗体在诊断特发性炎性肌病中的临床意义

炎性肌病是一组以肢体近端肌肉无力和横纹肌非化脓性炎性改变为特点的异质性疾病。以多发性肌炎（PM）和皮肌炎（DM）为代表，表现为对称性肢带肌、颈肌及咽肌无力，常累及多脏器，可伴发肿瘤和其他结缔组织病。目前以炎性肌病作为这一类疾病的总称，而多发性肌炎、皮肌炎只是特发性炎性肌病（idiopathic inflammatory myopathy，IIM）中的亚型（表1）。某些自身抗体与特发性炎性肌病的部分临床表现密切相关，在其诊断和分型中具有重要意义，笔者拟就各种不同免疫学指标在特发性炎性肌病的诊断和分类中的临床意义进行综述。

先天性肌纤维类型不均1例报告

先天性肌病（congential myopathy，CM）是一组发病年龄较早的具有临床和遗传异质性的神经肌肉疾病，主要临床表现为全身性肌无力、肌张力低下，常伴有先天性骨骼畸形，偶有心肌受累和呼吸功能异常，临床严最程度和发病年龄具有多变性，病情相对稳定或缓慢进展。