Objective To investigate myostatin gene mRNA expression in the muscle tissue from patients with muscle weakness suffering from different illness.Methods The clinical data of our patients were all from the Muscular Disease Center,Department of Neurology,People' s Liberation Army General Hospital.A total of 75 patients suffered from muscular weakness were included consecutively.Skeletal muscle biopsies were obtained with informed consent from all 75 patients.The diagnosis was confirmed by two senior doctors for muscular disease according to the clinical feature,the results of electromyography,serum creatine kinase activity and histopathological examination.Among of them,21 cases were diagnosed as polymyositis,15 cases progressive muscular dystrophy,5 cases neurogenic amyotrophy,4 cases chronic muscle fiber damage,4 cases mitochondrial myopathy,4 cases lipid storage myopathy,4 cases myotonic dystrophy,3 cases muscular dystrophy in adults,2 cases dermatomyositis,and 2 cases inclusion body myositis.There were 2 cases characterized by pure high activity of creatine kinase.And the other 9 cases were diagnosed as non-neuromuscular disease.The expression of myostatin gene mRNA in muscle tissue was evaluated by reverse transcription polymerase chain reaction method,with glyceraldehyde-3-phosphate dehydrogenase as internal reference.Results The expression of myostatin gene mRNA was detected in 63 patients,but not in other 12 cases,and the percentage of positive expression was 84％.The expression index was with great variation,from 0 to 3.52.In positive cohort,the index was correlated positively with the duration of disease (r =0.236,P =0.041).The activities of creatine kinase in positive expression cohort were higher than that of negative one,but nonsignificantly.Conclusion The expression of myostatin gene mRNA in muscle tissue may not correlate to the entity of atrophic muscular disease because of its great variation.

Objective To investigate the relationship between the G20210A mutation of prothrombin gene and cerebral infarclion(CI) in young patients. Methods The frequency of G20210A gene mutation of prothrombin in 40 young CI patients and 48 controls were studied by polymerase chain reaction (PCR) followed by Mnl- I and Hind-Ⅲ restriction enzyme analysis. Results No prothrombin gene G20210A mutation was found in both patients and controls. Conclusion The G20210A gene mutation of prothrombin was not the risk factor of this group of young CI patients.

Objective To investigate the clinical features, diagnosis, treatment and prognosis of polymyositis patients with cardiac involvement.Methods Clinical data of 41 polymyositis patients with cardiac involvement were analyzed retrospectively.Results In our group, the percentage of polymyositis with cardiac involvement was 38.3%, and 25 (60.1%) out of the 41 patients were asymptomatic. Their average age was older than the cases without cardiac involvement ( P

This is to study the clinical features of thyrotoxic periodic paralysis (TPP) caused by Graves′ disease. Fifty-nine patients, accounting for 25.4% of 232 patients with Graves′ disease, were found to be suffering from TPP. Among them, 58 were male and one was female. 54 patients were young men (age 19～45) (91.5%). Hypokalemia was found in 53 cases (89.8%) during episodes of paralysis. The results indicate that the rate of TPP caused by Graves′ disease is 25.4%, and it occurs mainly in young men(98.3%). Hypokalemic periodic paralysis was the most common type of TPP.

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.

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.

Diabetic neuropathy is the most common neuropathy. Pathology and electrophysiology are important for early diagnosis of diabetic neuropathy. This article would review the newest progress of the pathology and electrophysiology of diabetic neuropathy.

Objective To investigate sensitivity and specificity of myositis specific autoantibodies (MSAs) in polymyositis/dematomyositis(PM/DM ) and other neuromuscular disease. Methods Taking serum from 63 patients with PM/DM (PM/DM group)and 60 definite neuromusclar disease(non-myositis) patients(control group). All the sera were detected for two kind autoantibodies:anti-Jo-1,anti-SRP by immunoblotting method. Calculating sensitivity,specificity of anti-Jo-1 and anti-SRP autoantibodies for the diagnosis PM/DM. Results Positive ratio for anti-Jo-1 and anti-SRP autoantidodies were 17% and 5% respectively in the PM/DM group, while none of the sera from control group detected positive.The specificity of both autoantibodies diagnosis for PM/DM were 100% and (95% CI:94%~100%).The sensitivity was 22%( 95%CI:13%～34%). Conclusion Anti-Jo-1 and anti-SRP autoantibodies are highly specific to PM/DM diagnosis.

Objective To investigate the clinical features of the amyotrophic lateral sclerosis(ALS) which initial located in anterior horn of thoraci spinal cord.Methods The clinical data of 3 patients with ALS which initial located in anterior horn of thoraci spinal cord were analysed retrospectively.Results All of the 3 cases were male.The age of onset was 52,66 and 62 years old,respectively.They all presented as dyspnoea,with obvious atrophy in intercostal muscle and rectus abdominis.However,the muscle weakness and atrophy in the limbs were occurred slight degree and late comparativly.EMG showed the neurogenic damage in upper limbs and vertebra muslce.Conclusions The ALS which initial located in anterior horn in thoraci spinal cord is male dominant,the average age of onset is delay than that in ALS.The dyspnoea obvious.The respiratory muscle atrophy is earlier than the muscle weakness and atrophy in the limb.Definite diagnosis depende on the EMG.

Objective To investigate the clinical, imaging and pathological features of Wernicke's encephalopathy (WE).Methods The clinical, imaging and pathologic datas of 10 patients with WE were analyzed retrospectively.Results 10 patients were not ethylism. 9 cases presented various mental and conscious disturbance, 6 cases initially presented vertigo, nausea and vomiting. 5 cases showed ophthalmoparalysis. 3 cases displayed hypotension.2 cases showed ataxia and 1 case showed severe peripheral neuropathy. 3 of the 5 patients with MRI examinations showed symmetric T_1 and T_2 high signal in encephalocoele and periphery of aqueduct of midbrain, the other 2 cases were no positive finding . 4 cases with supplement VitB_1 were cured, 5 cases died.1 case withdrawed. 5 autopsy cases showed congestion, edema and multiple petechial hemorrhages in encephalocoele and periphery of aqueduct of midbrain.Conclusions The clinical manifestation of WE is atypical, and MRI imaging is helpful for early diagnosis of WE. It is the key treatment to supply the thiamine as early as possible.