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Since its inception over 60 years ago, the Chinese Journal of Neurology has published many readable and usable high-level clinical papers, including many of the first reported cases of neurological diseases in China, the results of large sample clinical studies, practical and authoritative guidelines for the diagnosis and treatment of diseases or techniques, consensus, standards and norms (hereinafter referred to as guidelines/consensus). Through reading these articles, clinicians have increased their new understanding of nervous system diseases, standardized the diagnosis and treatment of nervous system diseases, and improved the level of diagnosis and treatment. However, there is still a gap between the articles received and some clinical papers published in the journal in recent years and the high standard and standard clinical requirements. Therefore, we propose that complete and standard case data be the cornerstone; authenticity of case data be the bottom line; high-level authoritative guidelines/consensus be published; precision education, active promotion of guidelines/consensus be couducted. Hope we can continue to work hard in the New Year to do a better job with the magazine.
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Axial myopathy is a general term for a group of myopathy involving the axial muscles. It refers to a group of skeletal myopathy in which paraspinal muscles are individually or significantly affected, with or without the involvement of whole body skeletal muscles. Axial muscle weakness is often ignored in clinical practice. The evaluation of axial muscle is mainly the evaluation of the paraspinal muscles (erector spinae) in current literature. The clinical manifestations of paraspinal muscle weakness are dropped head syndrome and camptocormia. Physical examination and skeletal muscle magnetic resonance imaging, especially the whole body muscle magnetic resonance scan, are vital for the evaluation of axial muscle. It is of great clinical significance to increase attention to the diagnosis and differentiation of axial myopathy, which is helpful to avoid missing treatable diseases and improve the understanding and early recognition of associated myopath.
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For the Chinese Journal of Neurology, it is faced with an opportunity for the state encouraging Chinese authors to publish their papers in domestic journals, but it is also faced with the challenges of Science Citation Index journals competing for manuscript sources and changing of readers′ reading habits as well as the competition of domestic similar medical journals. With the establishment of the Seventh Editorial Board of Chinese Journal of Neurology, the Journal will mainly take the following measures to recreate brilliance in the next four years: attracting more high-quality original articles by strengthening solicitation of manuscripts and shortening publishing delay, improving the quality of editorials and review articles, enriching the content and columns of the Journal, publishing more high-level guidelines and consensuses, being more open and inclusive, improving digital construction, enhancing academic service capacity, taking into account both domestic and international orientation.
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Objective:To summarize the clinical, thigh magnetic resonance (tMRI) and electromyographic (EMG) characteristics in patients with immune-mediated necrotizing myopathy (IMNM).Methods:A total of 32 IMNM patients who were admitted to the Department of Neurology from April 2019 to April 2021 were enrolled at the First Medical Centre of Chinese PLA General Hospital. According to the type of antibody, the patients were divided into anti-SRP antibody positive (SRP +) group, anti-HMGCR antibody positive (HMGCR +) group and seronegative (SN) group. The gender, age, course of disease, myositis antibodies, extramuscular manifestations, EMG were collected and analyzed among three groups. The characteristics of skeletal muscle were assessed by tMRI inflammatory edema and fat infiltration scores. Analysis of variance, Kruskal-Wallis test and Chi-square test were used to compare the differences in different clinical characteristics and tMRI scores among the three groups. When there was a statistical difference among the three groups, the comparison between the two groups was corrected by the Bonferroni method. Result:(1) Of the 32 patients, 20 were females (62.5%).The median age of onset was 47±14 years, 25 (78.1%) patients had an acute or subacute course.There were 17 (53.1%) with SRP +, 8 (25.0%) with HMGCR +, and 7 (21.9%) with MSAs (myositis specific antibodies) negative. Anti-Ro52 antibody was the most common combined antibody (12/32, 37.5%), among which 10 were in SRP +group.(2) The CK of all patients were elevated, median was 5 948 (4 229, 7 664) U/L. There was no statistical difference of MMT scores among three groups. The proximal limb score was lower than distal limb ( P<0.01). The axial muscle score was lower than the distal limb score ( P<0.05).(3) Extramuscular manifestations of HMGCR + group were lower than those of the other two groups (12.5% vs. 71.4% and 76.5%, P<0.017). Rash (60.0% vs.14.3%, P<0.05) and interstitial pulmonary diseases (70.0% vs. 14.3%, P<0.05) were more common in patients with anti-SRP coexistence with anti-Ro52 than those with isolated anti-SRP. Connective tissue disease was more common in SN group (57.1% vs. 11.8% and 0, P<0.017).(4) tMRI showed fascial edema of SN group was more obvious than that of the other two groups ( P<0.017). There was no statistical difference in the degree of fat infiltration and inflammatory edema among three groups, but SRP + group had more cases of early fat infiltration.(5) Myotonic potentials (25.0% vs. 0 and 0, P<0.017) and compound repetitive discharges (CRDs) (50.0% vs. 5.9% and 0, P<0.017) were common in HMGCR + group. Proteomic analysis found significantly different expressed proteins in skeletal muscle of patients with myotonic potentials or CRDs were associated with cytoskeleton, cell junction and extracellular matrix. Conclusion:IMNM with pure anti-SRP antibody positive and anti-HMGCR positive were mainly affected by skeletal muscles. Those who were co-positive for anti-SRP antibody and anti-Ro52 antibody had more extramuscular manifestations, which might be a special subtype of SRP + group. This study proposed for the first time that myofascial inflammatory edema is an early sign of SN-IMNM injury. EMG of HMGCR +group were more prone to myotonia potential and CRDs.
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Objective:To analyze the clinical manifestations, skeletal muscle pathology, electromyography, skeletal muscle magnetic resonance imaging and gene mutations of a family with distant-onset DnaJ (heat-shock protein 40) homolog subfamily B member 6 (DNAJB6) myopathy.Methods:A total of three generations with three cases of the disease in a family, inherited by autosomal dominant inheritance, were collected. The examination of muscle enzymes, left biceps biopsy, skeletal muscle magnetic resonance imaging (MRI) and electromyography, etc,were performed for the family 's proband. Whole-exon sequencing was performed to screen the proband for pathogenic genes, and Sanger sequencing technology was performed to verify mutation sites of the proband′s family members. Results:The proband is a 30-year-old male who began to show weakness in the distal muscles as a teenager, and then gradually developed to the proximal muscles, accompanied by muscle atrophy of the limbs, mainly affecting small muscles in the hands and distal muscles of the lower limbs. Muscle enzymes of the proband were slightly elevated. Skeletal muscle MRI indicated muscle atrophy and fatty degeneration in the proximal and distal extremities, which in the distal extremities were more severe, mainly affecting the muscle groups of the posterior group. Electromyography indicated chronic myopathic damage. Muscle pathology suggested chronic muscle fiber damage and rimmed vacuoles could be found. The proband was found a heterozygous mutation [c.298T>G(p.F100V)] in DNAJB6 gene by all-exon sequencing. Sanger sequencing confirmed that his brother (similar medical history) and the second daughter also had the same mutation, and the eldest daughter was not detected the mutation at the above site. The second daughter is not ill and is a carrier of the mutation. The father of the proband died of pancreatic cancer and had similar symptoms during his lifetime.Conclusions:The above mutation of DNAJB6 gene is the pathogenic gene of this family. The clinical features are adolescence-onset muscle weakness and atrophy in distal extremities. This is the first family report of distal-onset DNAJB6 myopathy caused by mutations at this site in China.
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Tumor markers (TMs) in blood are important tools for the diagnosis, prognosis prediction and monitoring therapeutic efficacy of malignant tumor. Measurement of TMs in pleural and peritoneal fluid has been widely used. However, the significance of common TMs associated with systemic solid tumors in cerebrospinal fluid (CSF) has been overlooked to some extent. TMs in CSF are within extremely low limits in patients without intracranial malignant diseases. Slightly elevated TMs in CSF usually indicate abnormal intrathecal synthesis. Measurement of TMs in CSF is a useful and feasible ancillary diagnostic tool for intracranial metastasis, especially for leptomeningeal metastasis.
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Though affected by the COVID-19 epidemic in 2020, the Chinese Journal ofNeurology successfully overcame the difficulties and successfully completed the annual editing and publishing work. In 2020, editorial board meetings were held monthly to decide whether or not to publish a manuscript, 12 theme issues were published, nine guidelines and consensuses by the Chinese Society of Neurology were published, 10 continuing medical education articles by famous experts were published, and several COVID-19 related articles were quickly published. In 2021, efforts will be made to make the journal to a higher level.
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In the coming new year, more innovative researches are encouraged to be published in the journal. We hope researchers pay more attention to ethic issues and conflicts of interest statement, details on case ascertainment and control selection method (such as diagnosis, inclusion and exclusion criteria). We also hope to publish more systematic reviews in the journal.
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Although the outbreak of COVID-19 has been under control in China, the outbreak and epidemic of the disease are still increasing worldwide, and the number of deaths is still increasing. The COVID-19 cases are indeed dominated by varying degrees of lung damage, which is also the leading cause of death. However, professionals of various clinical disciplines are paying attention to whether there are important damages to other systems. Colleagues in neurology are more concerned about whether COVID-19 directly or indirectly affects the neurologic system. Judging from more than 80 000 cases in China, there are few objective evidences that the neurologic system is actually damaged in the reported data. Since the pandemic in Europe and America, some cases of combined peripheral nerve involvement have been reported, which deserves the attention of colleagues.
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Based on the Chinese guidelines for diagnosis and treatment of cerebral venous sinus thrombosis 2015, combined with the relevant progress in China and abroad in recent years, the revised Chinese guidelines for diagnosis and treatment of cerebral venous thrombosis 2019 mainly updated the background information to December 2019, refined and supplemented the recommendations, including the etiology and risk factors, clinical manifestations and imaging diagnosis, treatment and prevention. It is a new basis for the diagnosis and treatment of cerebral venous thrombosis in China.
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In the coming new year,more innovative researches are encouraged to be published in the journal.We hope researchers pay more attention to ethic issues and conflicts of interest statement,details on case ascertainment and control selection method (such as diagnosis,inclusion and exclusion criteria).We also hope to publish more systematic reviews in the journal.
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Idiopathic inflammatory myopathies (IIM) are a group of acquired immune myopathy,which mainly include polymyositis,dermatomyositis,amyopathic dermatomyositis,sporadic inclusion body myosistis (sIBM) and immune-mediated necrotizing myopathy,as well as some special types of antisynthetase syndrome,anti-signal recognition particle antibody positive necrotizing myopathy (NM),anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody positive NM.The diagnosis of these different types of IIM mainly depends on clinical manifestations,antibody detection and muscle pathological techniques.Different types of IIM have different clinical manifestations,or overlapping manifestations.This article systematically describes the evolution of IIM types,the main antibodies to myositis,the pathological characteristics of muscles,the manifestations of various types and the treatment of myositis.In addition to sIBM,patients with most of the other types of IIM have good outcomes by early diagnosis,timely,correct and adequate drug treatment.
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Subarachnoid hemorrhage (SAH) is a common hemorrhagic cerebrovascular disease, which not only has devastating impact on the central nervous system but also on many other organs. Due to the differences in the age of onset, etiology, risk factor, original bleeding site and amount of bleeding, complication, and the level of medical center, the clinical outcomes for specific patients are quite different. With the progress of medical science, the further development of neuroimaging, neurointervention and neurological intensive care has significantly improved the overall clinical outcome of SAH and greatly reduced the mortality rate. In particular, the results of some high-quality multicenter randomized controlled trials have been published in recent years, which provide new evidence-based evidence for SAH risk assessment and treatment selection. This article focuses on the etiology, emergency diagnosis and clinical evaluation, treatment of common causes and treatment of severe neurological diseases of SAH, so as to improve the understanding of SAH and guide clinical practice.
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Four versions of diagnostic criteria for cerebral vascular diseases have been published since 1978 in China. Based on the three previous versions, the 2019 version conformed the new published Chinese classification for cerebral vascular disease and International Classification of Diseases-11, integrated the symptoms, signs and imaging findings, and then formulated the diagnostic criteria for main types of cerebral vascular diseases. It emphasizes the clinical manifestation and neuro-imaging findings, specifies etiology on diagnosis and becomes the most concrete and comprehensive version of diagnostic criteria for cerebral vascular diseases in China.
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Four versions of diagnostic criteria for cerebral vascular diseases have been published since 1978 in China. Based on the three previous versions, the 2019 version conformed the new published Chinese classification for cerebral vascular disease and International Classification of Diseases?11, integrated the symptoms, signs and imaging findings, and then formulated the diagnostic criteria for main types of cerebral vascular diseases. It emphasizes the clinical manifestation and neuro?imaging findings, specifies etiology on diagnosis and becomes the most concrete and comprehensive version of diagnostic criteria for cerebral vascular diseases in China.
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Although myopathy has obvious heterogeneity in clinic,the exact mechanism of myopathy is not fully understood,and there is no effective biomarker,and there are one or some protein changes in the basic pathogenesis of myopathy.Proteomics is a discipline that explores the composition,expression and modification of proteins at a holistic level and is widely used in various fields of life sciences.The study of differential proteomics provides more scientific basis for explaining the pathogenesis of diseases,searching for new diagnostic markers and potential therapeutic targets.The application of proteomics in the study of muscular diseases deserves more attention from neurologists.
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Nemaline myopathy is a common type of congenital myopathy,and various gene mutations of thin filaments and related components are the causes of the disease.In recent years,a total of 13 gene mutations have been found to be associated with the disease.We review the six new pathogenic genes discovered in the past five years,and summarize gene function,encoded protein,mutation type and clinical features of nemaline myopathy.The pathogenesis of nemaline myopathy is needed to be further explored.
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In 2018,the Chinese Journal of Neurology continued to make efforts to improve the quality,display and influence of papers published,by persisting in holding editorial board meeting monthly to make the final decision on whether or not to publish a manuscript,ameliorating the website and WeChat services,etc.The impact factor of the journal in 2017 is 2.755,coming out in front among more than 140 journals published by the Chinese Medical Association.In the coming new year,the Chinese Journal of Neurology will make persistent efforts,trying to be included in more international databases,such as Medline and so on.
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Objective To study the clinical,pathological and genetic features of myofibrillar myopathy caused by BAG3 gene mutation.Methods The clinical features and pathological findings of a patient with myofibrillar myopathy were analyzed.Genomic DNA of the patient was extracted from peripheral blood and the next generation sequencing was performed to explore the mutation of genes about myopathies.Results The patient presented with nine-year-old onset myopathy characterized by progressive difficulty for squatting,rigid spine and muscle atrophy in the limbs symmetrically.Peripheral neurogenic damages were found on electromyography.On muscle biopsy,myogenic and neurogenic damages with rimmed vacuoles appeared,and the deposited materials were positive for sarcoglycan,dystrophin-R and dystrophin-C.There was a reported heterozygous mutation in the exons of the BAG3 gene (c.626C ＞ T).Conclusion There is no specificity of clinical manifestation in myofibrillar myopathy,and the diagnosis of this disease mainly depends on muscle biopsy and genetic screening.
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Objective To describe the changes of thrombosed venous sinus on MRI after administration of contrast material and evaluate the sensitivity and specificity of thread-like enhancement around sinus to diagnose thrombosis in the corresponding sinus.Methods Patients with cerebral venous sinus thrombosis (CVST) admitted to our department from January 2005 to December 2014 and undergone a MRI scan with administration of contrast material were included in this study.The enhancement features of venous sinus were studied in the plane parallel to the interested sinus.The features of enhancement were classified as peripheral thread-like enhancement, partial enhancement and complete enhancement.The proportion of these three type of enhancement in thrombosed sinuses and normal sinuses were described and compared.The sensitivity and specificity of peripheral thread-like enhancement to diagnose thrombosis in corresponding sinus were calculated.The proportion of each type of enhancement was also described and compared in acute (≤ 7 d), subacute (8-30 d) and chronic (≥ 31 d) stage after onset of symptoms.Results Peripheral thread-like enhancement, partial enhancement and complete enhancement were all found in both thrombosed and normal sinuses.There was a significant difference of enhancement features between normal and thrombosed sinus in superior sagittal sinus (100％ (30/30) vs 60％ (27/45), x2 =13.789, P =0.001), left trans verse sinus, and right sigrnoid sinus.The sensitivity and specificity of peripheral thread-like enhancement to diagnose thrombosis in the corresponding sinus were 10.5％-44.4％ and 53.3％-76.7％ respectively.There was no significant difference of contrast features at different stage after onset.Conclusion The value of peripheral thread-like enhancement to diagnose CVST is limited because of low sensitivity and specificity.