Objective 　To study the clinical and electrophysiological features in Charcot-Marie-Tooth disease type 1A with gene duplication.Methods　Clinical symptoms and signs were summarized in 22 patients from 21 unrelated families. Electromyography (EMG) as well as motor conduction velocities (MCV) and sensory conduction velocities (SCV) examinations were performed in all patients. Results　Evidence of CMT was initially detected within the second decade in 18 patients. Nearly half of patients were sporadic cases. The typical clinical manifestations of CMT1A were weakness and atrophy in the distal limbs, weakness or absence of the tendon reflexes, talipes equinovarus and postural tremor the upper limb. Additionally, some special symptoms and signs were also observed occasionally, including brisk tendon reflexes, extensor plantar responses, scoliosis, foot ulcers and nystagmus. EMG revealed that 77.3% of the patients had fibrillation and positive sharp potentials. 81.8% of them had prolonged motor unit potential limit. Median MCV showed there was no significant difference between CMT1A patients and CMT1 patients without duplication (t=1.63, P＞0.05). Values of SCV and MCV for the lower limbs were not obtained in 20 patients and more than 2/3 of the patients respectively. Conclusions　The clinical features of CMT1A included high frequent of sporadic cases, early onset in the second decade and various manifestations. The electrophysiological features were that the damages of nerves for the lower limbs were more severer than those in the upper limbs and the damages of the sensory nerves were more severer than those of the motor nerves. The phenotype was variable although the genotype was the same in CMT1A patients with PMP22 duplication.

Objective: To determine the distribution characteristics of waist circumference (WC), waist height ratio (WHtR) of 6–18 years olds in Guangzhou, and to put forward the WC and WHtR appropriate boundary values for 6–18 years olds on the basis of cardiovascular disease (CVD) risk factor assessment. Methods: We analyzed the height, weight, WC and its metabolic indication data (blood pressure, fasting blood glucose, and blood lipids) of 15 000 children in Guangzhou, aged 6–18, with the receiver-operating characteristic curve (ROC), and explored the best value point of WC and WHtRfor the prediction of cardiovascular diseases. Results: When the WC percent reached P85, and WHtR reached 0.48, the cardiovascular risk factors of fasting blood-glucose, blood pressure, and blood fat were signiifcantly higher. Conclusion: The 85th percentile value of WC and 0.48 of WHtR are the appropriate boundary values in increasing the cardiovascular disease risk factors in Chinese children and teenagers. WC and WHtR as a relatively simple inspection method, can well predict cardiovascular diseases, and be used in the conventional measuring items among students.

Objective:Based on the AAPM TG-263, a Content-Based Standardizing Nomenclatures (CBSN) was proposed to explore the feasibility of its standardization verification for organs at risk (OAR) of nasopharyngeal carcinoma (NPC).Methods:The radiotherapy structure files of 855 patients with nasopharyngeal carcinoma (NPC) receiving intensity-modulated radiotherapy (IMRT) from 2017 to 2019(15 of whom showed clinical anomalous structures) were retrospectively collected and processed. The Matlab self-developed software was used to obtain the image position, geometric features, first-order gray histogram, and the Gray-level Co-occurrence Matrix′s texture features of the OAR contour outlined by the doctor to establish the CBSN Location Verification model and CBSN Knowledge Library. Fisher discriminant analysis was employed to establish a CBSN OAR classification model, which was evaluated using self-validation, cross-validation, and external validation, respectively.Results:99%(69/70) of the simulated anomalous structures were outside the 90% reference range of the CBSN Knowledge Library and the characteristic parameters significantly differed among different OARs (all P<0.001). The accuracy rates of self-validation, cross-validation and external verification of the CBSN OAR classification model were 92.1%, 92.0% and 91.8%, respectively. Fourteen cases of clinical abnormal structures were successfully detected by CBSN with an accuracy rate of 93%(14/15). In the simulation test, the accuracy of the left and right location verification reached 100%, such as detecting the right eye lens named Len_L. Conclusion:CBSN can be used for OAR verification of NPC, providing reference for multi-center cooperation and standardized radiotherapy of NPC patients.

Objective: To develop the outcome evaluation index system for home care service of disabled elderly based on the long-term care insurance in Guangzhou. Methods: Delphi method was used to develop the outcome evaluation index system for home care service of disabled elderly under the long-term care insurance in Guangzhou. The Analytic Hierarchy Process was used to determine the weights of all indexes. Results: After two rounds of expert consultation, questionnaire response rates were 86.67%, 100%; expert authority coefficients were 0.843, 0.858; coefficients of variation ranged from 0.07 to 0.23 and 0.00 to 0.14; coordination coefficients ranged from 0.221 to 0.355 and 0.379 to 0.433 (P<0.01). The final index system consisted of 5 first-level indicators, 17 second-level indicators, and 59 third-level indicators. The analytic hierarchy process was used to determine the weights of all indexes, and the consistency test (CR<0.1) was performed. Conclusions The outcome evaluation index system for home care service of disabled elderly under the long-term care insurance in Guangzhou was scientific and reliable, the weights of all indexes were reasonable, which could provide reference for the designated service institution on evaluation and improvement of the effect of home care service of long-term care insurance for disabled elderly.

Objective To observe the effects of dual-task motor training on motor and balance function for stroke patients. Methods From January, 2016 to June, 2017, 30 patients with stroke were assigned randomly into control group (n = 15) and treatment group (n = 15). Both groups accepted routine physical therapy, the control group accepted anti-gravity treadmill training, while the treatment group accepted dual-task training with anti-gravity treadmill, for four weeks. They were measured with balance training and evaluation system, and assessed with Fugl-Meyer Assessment-lower extremity (FMA-L), Berg Balance Scale (BBS) and modified Barthel Index (MBI), before and after treatment. Results The range of swaying on X axial (Rx) and Y axial (Ry), as well as rectangle area (RecArea) decreased after treatment in the treatment group (t > 4.719, P < 0.001), while RecArea decreased in the control group (t = 5.069, P < 0.001). Ry and RecArea were less in the treatment group than in the control group (t > 2.288, P < 0.05). The scores of FMA-L, BBS and MBI improved after treatment in both groups (t > 7.316, P < 0.001), and improved more in the treatment group than in the control group (t > 2.322, P < 0.05). Conclusion The dual-task training via anti-gravity treadmill may improve motor and balance function in stroke patients, and promote the activities of daily living.