Objective To research the procedure for creating an animal model of mitral regurgitation by implanting a device through the apical artificial chordae tendineae, and to assess the stability and dependability of the device. Methods Twelve large white swines were employed in the experiments. Through a tiny hole in the apex of the heart, the artificial chordae tendineae of the mitral valve was inserted under the guidance of transcardiac ultrasonography. Before, immediately after, and one and three months after surgery, cardiac ultrasonography signs were noted. Results All models were successfully established. During the operation and the follow-up, no swines died. Immediately after surgery, the mitral valve experienced moderate regurgitation. Compared with preoperation, there was a variable increase in the amount of regurgitation and the values of heart diameters at a 3-month follow-up (P<0.05). Conclusion In off-pump, the technique of pulling the mitral valve leaflets with chordae tendineae implanted transapically under ultrasound guidance can stably and consistently create an animal model of mitral regurgitation.

Objective:Charcot-Marie-Tooth disease (CMT) comprises a group of clinically and genetically heterogeneous inherited neuropathies with an estimated prevalence of 1 in 2500. This study aimed to analyze the clinical and mutational characteristics of Chinese CMT patients with MFN2, BSCL2 and LRSAM1 variants.Methods:In this study, genetic analysis was performed in 206 Chinese patients at Chinese PLA General Hospital from December 2012 to March 2020 with clinical diagnosis of CMT, and reported variants of MFN2, BSCL2 and LRSAM1 related to CMT2.Results:We reported ten MFN2 mutations in ten unrelated patients (7 male, 3 female), two of whom had positive family history. Three novel mutations were detected including c.475-2A>G (splicing); c.687dupA (p.E230Rfs*16) and c.558dupT (p.S186fs). We reported three BSCL2 mutations of four unrelated patients, including c.461C>G (p.S154W), c.461C>T(p.S154L), and novel variants of c.1309G>C (p.A437P) and c.845C>T (p.A282V). Furthermore, two novel variants of LRSAM1, including c.1930G>T (p.G644C) and c.1178T>A (p.L393Q) were detected in two unrelated patients.Conclusion:Mutational spectrum of MFN2-, BSCL2-and LRSAM1-related CMT disease is expanded with the identification of novel variants in Chinese patients.

Amyotrophic lateral sclerosis (ALS) is a progressively aggravating fatal neurodegenerative disease, and there is no radical cure. This paper reviews the current progress of ALS therapies, mainly including drug therapy, symptomatic management, stem cell transplantation and gene therapy.

Ten patients diagnosed with multifocal motor neuropathy ( MMN) were recruited in the Department of Neurology at Chinese PLA General Hospital from January 1, 2009 to August 31, 2015.The clinical and electrophysiological features were analyzed retrospectively .All patients complained of progressive asymmetric limb weakness , which was more severe in distal than in proximal . Five presented muscle atrophy.None had sensory disturbances .All suffered diminished or disappeared tendon reflex , whereas Babinski signs were negative .Multi-focal conduction block ( CB) was confirmed by nerve conduction studies ( NCS) in all patients and 7 showed spontaneous potentials in needle electrode electromyography .Abnormal sensory nerve conduction was seen in 3 patients.Laboratory test revealed anti-ganglioside GM1 antibody in cerebrospinal fluid (CSF) in 6 cases and elevated CSF protein in 7 cases.Limb weakness alleviated greatly in 9 cases after intravenous immunoglobulin ( IVIg) treatment.But the other one reported poor response , who had long course of disease , serious limb weakness and obvious muscle atrophy .Motor nerve damage is the most important manifestation of MMN and sensory nerve damage may also appear .NCS is essential to the diagnosis of this disease , with CB as the characteristic electrophysiological feature .IVIg is an effective treatment.

Objective To analyze the features of nerve conduction in patients with amyotrophic lateral sclerosis (ALS),and explore the correlation between compound muscle action potential (CMAP)amplitude and disease duration and revised amyotrophic lateral sclerosis functional rating scale (ALSFRSR).Methods Standard motor and sensory nerve conduction studies were performed in 154 patients with ALS.The following parameters were collected including CMAP amplitude,distal motor latency (DML),motor conduction velocity,sensory conduction velocity and sensory nerve action potential amplitude.Regression study was done to explore the correlation between CMAP amplitude and disease duration and ALSFRS-R.Results Motor nerve conduction abnormalities were presented in a majority of the patients with prolonged DML in the tibial nerve,median nerve and ulnar nerve as the most common form (61.06％-81.42％),followed by decreased CMAP amplitude (30.12％-53.98％),decreased MCV (12.05％-16.81％) and absence of CMAP (2.65％-9.73％).Sensory nerve conduction abnormalities were detected in a small proportion of patients and the decreased SCV,decreased SNAP amplitude and absence of SNAP in the sural nerve,median nerve and ulnar nerve were found in 1.22％-2.73％,0-1.82％ and 0-1.22％patients respectively.No correlation was found between CMAP of the common peroneal nerve,tibial nerve,median nerve and ulnar nerve and the disease duration (P ＞ 0.05),while significant positive correlation was established between CMAP amplitude of the median nerve and ulnar nerve and ALSFRS-R (r =0.273,P =0.016;r =0.357,P =0.001).Conclusions Motor nerve conduction is abnormal in a majority of ALS patients with prolonged DML as the most common form,while abnormal sensory nerve conduction is only found in a few of ALS patients.CMAP amplitude of the median nerve and ulnar nerve might be of certain clinical value in evaluating the severity of ALS.

Objective To investigate the serum creatinine (SCr) level in patients with sporadic amyotrophic lateral sclerosis (sALS) and to explore the relationship between the SCr level and the clinical characteristics.Methods A total of 80 patients with sALS,80 patients with multiple system atrophy (MSA) and 80 patients with tension-type headache (TTH) were enrolled in the study.The SCr levels were compared among the three groups.The association between the SCr level and the revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R),the forced vital capacity (FVC) percentage of predicted (FVC％ pred),the site of symptom onset,the duration of disease and the rate of disease progression was evaluated in the sALS group.Results The SCr level was significantly decreased in the sALS group than the other two groups [(60.86 ± 16.80) μmol/L vs (70.05 ± 12.79) μmol/L and (66.97-± 14.14) μmol/L,P ＜ 0.01].In the sALS group,the SCr level was positively correlated with the ALSFRS-R (r =0.315,P =0.005),while no correlation was found between the SCr level and the FVC％ pred,the site of symptom onset,the duration of disease and the rate of disease progression (all P ＞ 0.05).Conclusion The SCr level is an important biochemical index in the patients with sALS and might play an important role in monitoring the disease progression.

BACKGROUNDMyotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disease caused by abnormal expansion of cytosine-thymine-guanine (CTG) repeats in the myotonic dystrophy protein kinase gene. The clinical manifestations of DM1 are multisystemic and highly variable, and the unstable nature of CTG expansion causes wide genotypic and phenotypic presentations, which make molecular methods essential for the diagnosis. So far, very few studies about molecular diagnosis in Chinese patients with DM1 have been reported. Therefore, we carried out a study using two different methods in molecular diagnosis to verify the validity in detecting CTG expansion in Chinese patients showing DM signs.

METHODSA total of 97 Chinese individuals were referred for molecular diagnosis of DM1 using conventional polymerase chain reaction (PCR) accompanied by Southern blotting and triplet primed PCR (TP-PCR). We evaluated the sensitivity and limitation of each method using percentage.

RESULTSBy conventional PCR 65 samples showed only one fragment corresponding to the normal allele and 62 out of them were correctly diagnosed as DM1 by TP-PCR and three homologous non-DM1 samples were ruled out; Southern blotting analysis successfully made 13 out of 16 correct diagnoses with a more sensitivity using α-(32)P-labeled probes than dig-labeled probes.

CONCLUSIONMolecular analysis is necessary for the diagnosis of DM1 and TP-PCR is a reliable, sensitive, and easily performed method in molecular diagnosis which is worthy to be popularized.

Adult ; Aged ; Blotting, Southern ; Female ; Humans ; Male ; Middle Aged ; Molecular Diagnostic Techniques ; methods ; Myotonic Dystrophy ; diagnosis ; genetics ; Polymerase Chain Reaction ; Sensitivity and Specificity ; Young Adult

Objective To investigate the clinical features,prognosis and its influencing factors of cerebral venous sinus thrombosis (CVST).Methods The clinical data of 163 patients with CVST were analyzed retrospectively.The outcome was assessed with the modified Rankin Scale (mRS).The influencing factors on prognosis were analyzed by logistic regression model.Results Among the 163 CVST cases,headache was found in 140 cases,motor and (or) sensory deficits in 16 cases,coma in 6 cases,serious intracranial hypertension (＞ 350 mm H2O,1 mm H2O＝0.0098 kPa) in 68 cases,lateral sinus thrombosis in 129 cases,straight sinus thrombosis in 11 cases and intracranial hemorrhage in 21 cases.Follow-up data was obtained by telephone in 150 cases (92％).The mRS scores were 0-1 in 89 cases,2 in 13 cases,3-5 in 44 cases,and 6 in 4 cases respectively.Poor outcome (mRS score ＞ 2) was found in 29.4％(48/163) patients.The total mortality rate was 2.7％ (4/150).Univariate analysis identified factors associated with poor outcome were motor and (or) sensory deficits,straight sinus thrombosis,serious intracranial hypertension (＞ 350 mm H2O) and intracranial hemorrhage.In logistic regression analysis,serious intracranial hypertension(＞ 350 mm H2O; OR =0.169,95％ CI 0.053-0.541,P =0.003) and intracranial hemorrhage (OR =0.075,95％ CI 0.018-0.311,P =0.000) were identified as independent predictors of poor prognosis.Conclusions The clinical manifestations of CVST are complicated and nonspecific.It is still a disease that may lead to death or disability.Serious intracranial hypertension(＞ 350mm H2O) and intracranial hemorrhage were independent predictors of poor prognosis.

Objective To explore the risk factors of hospital infection for hypertensive intracerebral hemorrhage ( HIGH). Methods 408 patients from Department of Neurology whose length of stay equaled or exceeded 72 hours and who fitted in with the criterion for the diagnosis of hospital infection were chosen as the HICH infection group while HICH patients without hospital served as the control group. The risk factors for HICH were studied by means of both single factor analysis and multifactor analysis. Results Of more than 30 possible risk factors that were studied by means of single factors analysis, more than 20 manifested marked difference (P < 0.05). Uncondition Logistic regression analysis of the more than 20 variables indicated that rise of inhalation of food resulting from indwelling, stomach tube,kinds of antibiotics used,spray inhalation and fasting blood-glucose,accidental were the risk factors of HICH infection. Conclusion HICH infection results from the synergetic action of various factors and hospital infection could be controlled and reduced by strengthening supervision.

Objective To explore the characteristics of hereditary spastic paraplegia with thin corpus callosum (HSP-TCC). Methods Clinical, electrophysiological, MRI features of 3 patients with HSP-TCC were reported. The genetic characteristics were reviewed. Results 3 patients revealed difficulty in walking, slowly progressive weakness, spasticity of the lower limbs and mental impairment. The electromyogram in 2 cases showed neurogenic damage in lower limbs muscle, and 1 case showed peripheral nerve damage. Cerebral MRI showed an extremely thin corpus callosum on sagittal image. The locus of 15q13-15 has been identified for HSP-TCC, but some HSP-TCC families have not been linked to this locus.Conclusion HSP-TCC is a common subtype of complicated HSP inherited by autosomal recessive mode. Brain MRI showed extremely thin corpus callosum. Electromyogram many reveal neurogenic damage.