ObjectiveTo report clinical, pathological and molecular genetic features in a Chinese family with hereditary motor and sensory neuropathy type 6. MethodsThe index case is a 15 years old boy.He developed progressive distal limb weakness at the age of 5.The disease deteriorated slowly,accompanied with contracture of achilles' tendon. At the age of 11 years old he suffered from decrease of visual acuity. At the age of 12, he found the muscular atrophy of both hands without sensory disturbances.Visual evoked potential revealed prolonged latency of bilateral P100. Ophthalmological examination showed bilateral optic atrophy. His mother had the similar symptoms at the age of 7 and reduced visual acuity at the age of 10. Nerve conduction velocity revealed in both pat1ents no compound motor and sensory nerve action potentials in most nerves or slightly reduced nerve conduction velocities with severely reduced amplitudes of the compound motor and sensory nerve action potentials. Sural nerve biopsy was performed on the proband.The sequence of MFN2 gene was analyzed in DNA from the index, his mother and 100 healthy controls.ResultsSural nerve biopsy revealed severe loss of myelinated fibers with few regenerating clusters.Ultrapathological examination showed a few of atypical bulbs of myelinated fibers, occasionally regenerating clusters, mitochondrial swelling and aggregation in a few of axons. A new mutation of W740R mutation in MFN2 gene has been identified in the index case, her mother, but not in 50 healthy controls. Conclusions A novel MFN2 gene mutation result in hereditary motor and sensory neuropathy type 6.Mild visual loss appeares after the lesion of spinal nerves. Demyelination of peripheral nerve appears in the disease.

The effective quality control in clinical practices is an effective guarantee for the authenticity and scientificity of the findings. The post-marketing reevaluation for traditional Chinese medicines (TCM) focuses on the efficacy, adverse reaction, combined medication and effective dose of drugs in the market by expanded clinical trials, and requires a larger sample size and a wider range of patients. Therefore, this increases the difficulty of quality control in clinical practices. With the experience in quality control in clinical practices for the post-marketing reevaluation for Kangbingdu oral for cold, researchers in this study reviewed the study purpose, project, scheme design and clinical practice process from an overall point of view, analyzed the study characteristics of the post-marketing reevaluation for TCMs and the quality control risks, designed the quality control contents with quality impacting factors, defined key review contents and summarized the precautions in clinical practices, with the aim to improve the efficiency of quality control of clinical practices. This study can provide reference to clinical units and quality control-related personnel in the post-marketing reevaluation for TCMs.
Drugs, Chinese Herbal ; adverse effects ; economics ; therapeutic use ; Humans ; Medicine, Chinese Traditional ; Product Surveillance, Postmarketing ; methods ; Quality Control ; Randomized Controlled Trials as Topic ; Respiratory Tract Infections ; drug therapy

Objective:To evaluate the clinical efficacy of acupuncture plus tuina in treating cervical vertigo (CV).Methods:One hundred CV patients were randomized into an observation group and an acupuncture group by the random number table,with 50 cases in each group.The acupuncture group received acupuncture at Xiang Ba Zhen (eight acupoints on the nape);the observation group received tuina treatment in addition to the Xiang Ba Zhen acupuncture.The two groups were both treated once every other day for 10 sessions in total.The two groups were examined by transcranial cerebral Doppler (TCD) before and after the treatment,and their therapeutic efficacies were evaluated.Results:After the treatment,the mean velocity (Vm) of vertebral artery (VA) and basilar artery (BA) showed significant improvement in both groups (all P＜0.001);there were significant differences in the Vm of VA and BA between the two groups (both P＜0.05).The total effective rate was 100.0％ in the observation group versus 82.0％ in the acupuncture group,and the difference was statistically significant (P＜0.01).Conclusion:Xiang Ba Zhen acupuncture as a monotherapy or used together with tuina can improve CV,but Xiang Ba Zhen plus tuina can produce a more significant efficacy.

ive] To assess the diagnostic value of fiberbronchoscopy for right middle lobe syndrome (RMLS) and to explore the etiology of RMLS. [Methods] Fiberbronchoscopy was carried out in 42 casesof RMLS diagnosed by chest X-ray or CT. [Results] Patients with RMLS due to non-specific inflamma tion accounted for 57.1 % , lung cancer 26.2%and pulmonary tuberculosis 11.9%. Congestion, edema, stenosis, neoplasm, purulent secretion, and mucosa thickening were the main manifestations under fiber-bronchoscope. The diagnostic accordance rate of fiberbronchoscopy for lung cancer, non-specific inflam mation and pulmonary tuberculosis was 90.9% , 87.5% and 60% respectively. No significant differences of the incidences of non-specific inflammation and lung cancer were found in the teenage, the adult and the aged. [Conclusion] Fiberbronchoscopy is an important method of the diagnosis of RMLS. Lung can cer, non-specific inflammation and pulmonary tuberculosis are the common pathogenic factors of RMLS. Male cases over 40 should take fiberbronchoscopy to exclude the possibility of lung cancer.

Objective:To study the changes of upper airway dimension and morphology in Class Ⅱ mandibular retrusion children af-ter functional treatment by Twin-block appliance.Methods:The Cone-Beam CT(CBCT)data of upper airway of the subjects were measured with Dolphin 11.5 software before and after fuctional treatment by Twin-block appliance.The comparison of upper airway di-mension and morphology between pre-treatment and post-treatment was performed by paired t-text.Results:After functional treatment the volume of total upper airway,velopharyngeal airway,glossopharyngeal airway,laryngopharyngeal airway,oropharyngeal airway,the sectional area of the inferior of the soft palate(SP),tip of the epiglotti(TE),the sagittal diameter of SP,the lateral diameter of SP and TE increased(P <0.05)in the children;the airway's shape of SP was attended to be rounder and TE to be more flat.Conclusion:Functional treatment is effective in the treatment of skeletal Class Ⅱ mandibular retrusion of children by increase of the upper airway and improvement of respiration.

Objective: To investigate the prevalence of scoliosis among primary and middle school students in Jiaxing City, Zhejiang Province, so as to provide insights into scoliosis control among children and adolescents. Methods: Grade 4 to 6 primary school students and grade 1 to 3 junior high school students were recruited using a stratified cluster sampling method in Jiaxing City in 2019. Participants' demographic characteristics, dietary habits and nutritional status, physical activity, learning environments, reading and writing habits were collected using questionnaires. Scoliosis was screened through general examinations, forward bend test and scoliometer, and scoliosis was diagnosed with whole-spine X-ray scans in an erect position. The prevalence of scoliosis was descriptively analyzed among primary and middle school students. Results: A total of 8 026 primary and middle school students were included, 7 304 valid questionnaires were recovered, with an effective recovery rate of 91.00%. The respondents included 3 667 primary school students (50.21%) and 3 637 junior high school students (49.79%), and included 3 776 boys (51.70%) and 3 528 girls (48.30%). There were 659 participants with initial screening positive for scoliosis (9.02%), and the percentages of positive initial screening of thoracic, thoracolumbar and lumbar scoliosis were 2.93%, 4.56% and 4.56%, respectively. A higher percentage of positive initial screening of scoliosis was diagnosed among participants living in Pinghu City (10.45%), junior high school students (11.74%), girls (11.96%), students with a medical history of anemia (22.44%), students with less than 3 days of moderate-intensity physical activity in the past week (9.46%), students with less than 3 days of walking duration of over 10 minutes in the past week (10.18%), students with daily sitting duration of 5 hours and more in the past week (10.74%), students with their class seats exchanged every semester or month (10.28%), students with daily reading and writing duration of 3 hours and more after school (10.93%) and students with less than 10 cm distance from the chest at reading or writing to the edge of the table (9.67%) (all P<0.05). A total of 218 students received whole-spine X-ray scans in an erect position, 132 participants were definitively diagnosed as scoliosis (60.55%), and the estimated prevalence of scoliosis was 5.46%. Conclusion The percentage of positive initial screening of scoliosis was 9.02% among primary and middle school students in Jiaxing City. Gender, stage of learning, nutritional status, exercise frequency and habits of reading and writing may be factors affecting the development of scoliosis.

Objective To establish and verify the prediction model for ischemic cardiovascular disease(ICVD)among the elderly population who were under the current health care programs. Methods Statistical analysis on data from physical examination, hospitalization of the past years, from questionnaire and telephone interview was carried out in May, 2003. Data was from was randomly selected to generate both module group and verification group. Baseline data was induced to make the verification group into regression model of module group and to generate the predictive value. Distinguished ability with area under ROC curve and the predictive veracity were verified through comparing the predictive incidence rate and actual incidence rate of every deciles group by Hosmer- Lemeshow test. Predictive veracity of the prediction model at population level was verified through comparing the predictive 6-year incidence rates of ICVD with actual 6-year accumulative incidence rates of ICVD with error rate calculated. Results The samples included 2271 males over the age of 65 with 1817 people for modeling population and 454 for verified population.All of the samples were stratified into two layers to establish hierarchical Cox proportional hazard regression model, including one advanced age group(greater than or equal to 75 years old), and another elderly group(less than 75 years old). Data from the statically analysis showed that the risk factors in aged group were age, systolic blood pressure, serum creatinine level, fasting blood glucose level, while protective factor was high density lipoprotein; in advanced age group, the risk factors were body weight index, systolic blood pressure, serum total cholesterol level, serum creatinine level, fasting blood glucose level, while protective factor was HDL-C. The area under the ROC curve (AUC)and 95%CI were 0.723 and 0.687-0.759 respectively. Discriminating power was good. All individual predictive ICVD cumulative incidence and actual incidence were analyzed using Hosmer-Lemshow test, x 2=1.43, P=0.786, showing that the predictive veracity was good.Conclusion The stratified Cox Hazards Regression model was used to establish prediction model of the aged male population under a certain health care program. The common prediction factor of the two age groups were: systolic blood pressure, serum creatinine level, asting blood glucose level and HDL-C. Thc area under the ROWC curve of the verification group was 0.723, showing that the distinguished ability was good and the predict ability at the individual level and at the group level were also satisfactory. It was feasible to using Cox Proportional Hazards Regression Model for predicting the population groups.

Objective To investigate the 6-year accumulative incidence rate of ischemic cardiovascular disease (ICVD) and its related risk factors. Methods Baseline population was all from an elderly population with members all born before 1-1,1938 and under health care programm.Data was recorded in a database of a hospital and baseline of subjects under research was aged ＞65years. People that had had ICVD at baseline were excluded. Risk factors under research would include: age at the baseline study, gender, body mass index, systolic blood pressure, serum cholesterol level, serum triglyceride level, serum high-density lipoprotein level, serum triglyceride level, serum apolipoprotein A1 level, history of diabetes mellitus and cigarette smoking etc. Single factor analysis was carried out using person-years as time of study, then calculating the person-year incidence and the accumulative incidence rate at different levels related to baseline risk factors.Multivariate analysis was under Cox Proportional Hazards Regression Model. Results Baseline population included 2271 elderly men, with the 6-year cumulative prevalence rate of ICVD as 23.56%, and the person-year prevalence rate was 45.41‰. Single factor analysis showed that the ICVD events positively related to variables which including systolic blood pressure, body mass index,serum cholesterol level and serum triglyceride level, serum apolipoprotein A1 level, status of diabetes mellitus and cigarette smoking. The ICVD events negatively related to variables as serum high-density lipoprotein levcl and serum creatinine level. Results of multivariate analysis showed that high systolic pressure, diabetes mellitus, serum creatinine level, Body Mass Index were the main risk factors. The serum high-density lipoprotein level served as the main protective factor. Conclusion The aged male population under health care programme was high in the ICVD prevalence rate, suggesting that programmes as controlling blood pressure, blood glucose, and increasing serum high-density lipoprotein levels were effective measures to decrease the ICVD events.

Objective To investigate the relationship between the expressions of angiotensin converting enzyme 2(ACE2)/ACE mRNA in myocardium-nephors and the blood pressure in spontaneously hypertensive rats (SHR).Method A total of 18 male of 12 weeks old SHRs and 18 male of 12 weeks old Wistar Kyoto(WKY)rats were got for the experimental study.Nine SHRs and 9 WKY rats were randomly taken out as controls and sacrificed for detecting the mRNA expressions and protein of ACE2 and ACE.Other halves of rats of both groups were fed for 12 weeks and then sacrificed for detecting of the same biomarkers as in controls.The mRNA expressions of ACE2 and ACE were determined by real-time quantitative RT-PCR.The protein level of ACE2 and ACE were determined by immunohistochemistry.Results Systolic blood pressure(SBP)in SHRs of 12 and 24 weeks old increased compared with that in WKY(all P＜0.01).SBP in SHRs of 24 weeks old increased compared with that in SHRs of 12 weeks old(P＜0.01).The cardiac and renal expressions of ACE2 mRNA in SHRs of 12 and 24 weeks old were all significantly lower than those in WKY rats(P＜0.01).The expressions of ACE mRNA in SHRs of 12 and 24 weeks old were all significantly higher than those in WKY rats(P＜0.05,P＜0.01).The cardiac and renal expression of ACE2 mRNA in SHRs of 24 weeks old was significantly lower than that in SHRs of 12 weeks(P＜0.01).The myocardial and renal expression of ACE mRNA in SHRs of 24 weeks old was significantly higher than that in 12 SHRs of weeks old(P＜0.01).The positive reactions of ACE2 protein found in kidney displayed in brown colur.The ACE2 proetin appeared in uniform distribution of brown granules in WKY rats and comparatively scanty distribution of brown granule in SHRs.Conclusions There are correaltions between the expressions of ACE2/ACE mKNA as well as protein and blood pressure.