Objective:To summarize the genetic and phenotypic features of MORC family CW-type zinc finger 2 (MORC2) gene-related neuropathy in Chinese patients. Methods:The clinical and whole exome sequencing data of MORC2 gene-related neuropathy families with a definitive genetic diagnosis were collected from the Third Xiangya Hospital of Central South University between 2010 and 2023. Literature involving Chinese families with MORC2 gene-related neuropathy was extensively reviewed to provide a comprehensive summary of the genetic and phenotypic spectrum of the disease. Results:A total of 10 families with MORC2 gene-related neuropathy were identified and analyzed. Six different heterozygous pathogenic variants in the MORC2 gene were observed among these families, including the novel variant c.1330G>C (p.G444R) that had not been previously reported. Six families presented as axonal Charcot-Marie-Tooth disease caused by variants in the MORC2 gene (CMT2Z) phenotype with childhood or adult onset, and carried variants c.754C>T (p.R252W), c.1199A>G (p.Q400R), c.1330G>C (p.G444R), or c.1396G>A (p. D466N); 3 families manifested as severe spinal muscular atrophy (SMA)-like phenotype with infantile onset, all carried c.260C>T (p.S87L); 1 family carried c.1181A>G (p.Y394C), presented as DIGFAN syndrome phenotype with infantile onset combined with mental and motor retardation. Systematic review showed 8 Chinese families carried pathogenic variants of the MORC2 gene, among which 5 families were associated with the CMT2Z phenotype, carrying c.754C>T (p.R252W), c.1079A>G (p.E360G), c.1220G>A (p.C407Y), or c.1397A>G (p.D466G); 1 family was associated with SMA-like phenotype, carrying c.260C>T (p.S87L); and 2 families were associated with DIGFAN syndrome, carrying c.79G>A (p.E27K) and c.292G>A (p.G98R). Conclusions:A novel pathogenic variant c.1330G>C (p.G444R) of the MORC2 gene associated with the CMT2 phenotype is reported. Eleven pathogenic variants of the MORC2 gene have been reported in the Chinese patients to date, and c.754C>T(p.R252W) may be the most common. Patients with MORC2 gene-related neuropathy carrying different variants present with significant clinical heterogeneity, manifesting as CMT2Z, early-onset severe SMA-like myasthenia, or DIGFAN syndrome.

Objective:Exploring the effect of radiofrequency ablation treatment to restore sinus rhythm on the improvement of functional mitral regurgitation (FMR) and cardiac structure in patients with atrial fibrillation combined with moderate or severe FMR, compared with drug therapy alone.Methods:This retrospective cohort study consecutively enrolled patients diagnosed with persistent atrial fibrillation and moderate or severe FMR who were admitted to the Third Affiliated Hospital of Sun Yat-sen University from January 2019 to December 2021. Forty-eight patients who were treated with radiofrequency ablation and maintained sinus rhythm were enrolled in the ablation group, and 63 patients who were treated with medication alone during the same period were in the medicine group. Patients in the ablation group and medicine group were matched in a 1∶1 ratio using a propensity score, and 41 patients were finally included in each of the 2 groups. All patients reexamined echocardiography after 3-month of treatment. The proportion of patients with FMR improvement and the differences in changes of cardiac structural and functional parameters were compared between groups.Results:After propensity score matching, the ablation group was aged (69.3±7.1) years with 21 males (51.2%) and the medicine group was aged (71.3±9.4) years with 21 males (51.2%). The echocardiography after 3-month of treatment showed the rate of FMR improvement was significantly higher in the ablation group than in the medicine group (19 (46.3%) vs. 33 (80.5%), P<0.001), and patients in the ablation group showed a significant decrease in FMR extent (Δmitral regurgitation area: (-1.30±2.64) cm 2 vs. (-3.55±2.50) cm 2, P<0.001), left atrial size (Δleft atrial diameter: (-0.17±3.78) mm vs. (-2.46±4.01) mm, P=0.009) and E/e′ (ΔE/e′:-2.54±7.34 vs.-6.34±7.08, P=0.021) compared with the medicine group. There was also a significant decrease in left ventricular size (Δleft ventricular end diastolic diameter: (-3.12±6.62) mm vs. (-0.73±3.62) mm, P=0.046) and significant increase in left ventricular ejection fraction (Δleft ventricular ejection fraction: (2.73±9.69) % vs. (-0.93±5.41) %, P=0.038) in ablation group. Conclusion:Performing radiofrequency ablation to restore sinus rhythm can effectively reduce the severity of mitral regurgitation and improve left atrial and left ventricular remodeling and cardiac function in patients with atrial fibrillation and FMR.

Objective:Hereditary neuropathy with liability to pressure palsy(HNPP)is a rare autosomal dominant peripheral neuropathy,usually caused by heterozygous deletion mutations in the peripheral myelin protein 22(PMP22)gene.This study aims to investigate the clinical and molecular genetic characteristics of HNPP. Methods:HNPP patients in the Department of Neurology at Third Xiangya Hospital of Central South University from 2009 to 2023 were included in this study.The general clinical data,nervous electrophysiological and molecular genetic examination results were collected and analyzed.Molecular genetic examination was to screen for deletion of PMP22 gene using multiplex ligation-dependent probe amplification(MLPA)after extracting genomic DNA from peripheral blood;and if no PMP22 deletion mutation was detected,next-generation sequencing was used to screen for PMP22 point mutations.The related literatures of HNPP were reviewed,and the clinical and molecular genetic characteristics of HNPP patients were analyzed. Results:A total of 34 HNPP patients from 24 unrelated Chinese Han families were included in this study,including 25 males and 9 females.The average age at illness onset was 22.0 years.Sixty-two point five percent of the families had a positive family history.Among them,30 patients had symptoms of peripheral nerve paralysis.Patients often presented with paroxysmal single limb weakness with(or)numbness(25/30),and some patients had paroxysmal unilateral recurrent laryngeal nerve(vagus nerve)paralysis(2/30).Physical examination revealed muscle weakness(23/29),hypoesthesia(9/29),weakened or absent ankle reflexes(20/29),distal limb muscle atrophy(8/29)and high arched feet(5/29).Most patients(26/30)could fully recover to normal after an acute attack.Thirty-one patients in our group underwent nervous electrophysiological examination,and showed multiple demyelinating peripheral neuropathies with both motor and sensory nerves involved.Most patients showed significantly prolonged distal motor latency(DML),mild to moderate nerve conduction velocity slowing,decreased amplitude of compound muscle action potential(CMAP)and sensory nerve action potential(SNAP),and sometimes with conduction block.Nerve motor conduction velocity was(48.5±5.5)m/s,and the CMAP amplitude was(8.4±5.1)mV.Nerve sensory conduction velocity was(37.4±10.5)m/s,and the SNAP amplitude was(14.4±15.2)μV.There were 24 families,23 of whom had the classical PMP22 deletion,the last one had a heterozygous pathogenic variant in the PMP22 gene sequence(c.434delT).By reviewing clinical data and genetic testing results of reported 1 734 HNPP families,we found that heterozygous deletion mutation of PMP22 was the most common pathogenic mutation of HNPP(93.4%).Other patients were caused by PMP22 small mutations(4.0%),PMP22 heterozygous gross deletions(0.6%),and PMP22 complex rearrangements(0.1%).Thirty-eight sorts of HNPP-related PMP22 small mutations was reported,including missense mutations(10/38),nonsense mutations(4/38),base deletion mutations(13/38),base insertion mutations(3/38),and shear site mutations(8/38).HNPP patients most often presented with episodic painless single nerve palsy.Common peroneal nerve,ulnar nerve,and brachial plexus nerve were the most common involved nerves,accounting for about 75%.Only eighteen patients with cranial nerve involved was reported. Conclusion:Heterozygous deletion mutation of PMP22 is the most common pathogenic mutation of HNPP.Patients is characterized by episodic and painless peripheral nerve paralysis,mainly involving common peroneal nerve,ulnar nerve,and other peripheral nerves.Nervous electrophysiological examination has high sensitivity and specificity for the diagnosis of HNPP,which is manifested by extensive demyelinating changes.For patients with suspected HNPP,nervous electrophysiological examination and PMP22-MLPA detection are preferred.Sanger sequencing or next generation sequencing can be considered to detect other mutations of PMP22.

Objective:To assess the cost-effectiveness of influenza vaccination among people aged 60 years and older in Shenzhen.Methods:A Markov state transition model was constructed to evaluate the cost-effectiveness of annual influenza vaccination for preventing influenza infection compared with no vaccination among the elderly from the social perspective. Allowing seasonal variation of influenza activity, the model followed a five-year cohort using weekly cycles. We employed once the Chinese gross domestic product (GDP) per capita in 2019 (70 892 yuan) as the willingness-to-pay (WTP) threshold and calculated the net monetary benefit (NMB) with costs and quality-adjusted life-years (QALYs) discounted at 5% annually. The impact of parameter uncertainty on the results was examined using one-way and probabilistic sensitivity analyses (PSA).Results:The base case amounted to approximately 35 yuan of cost-saving and a net gain of 0.007 QALYs. Correspondingly, the NMB was 529 yuan per vaccinated person. One-way sensitivity analyses showed that the NMB was relatively sensitive to changes in the attack rate of influenza and vaccine effectiveness. Based on the results of PSA with 1 000 Monte Carlo simulations, influenza vaccination had a probability of being cost-effective in 100% of the repetitions.Conclusions:The present study provides evidence that influenza vaccination is a cost-saving disease prevention strategy for people aged 60 years and older in Shenzhen.

Objective:To report the genetic and clinical features of sorbitol dehydrogenase (SORD) gene-related Charcot-Marie-Tooth disease (CMT) in Chinese population.Methods:Fifty-seven undiagnosed sporadic or autosomal recessive (AR) inherited CMT2 families were collected from the Department of Neurology of the Third Xiangya Hospital from 2009 through 2018 .Polymerase chain reaction combined with Sanger sequencing were used to detect the mutations of SORD gene, and the relative clinical features were summarized. Results:The homozygous SORD gene hot spot mutation c.757delG (p. Ala253GlnfsTer27) was detected in four sporadic patients, accounting for about 7% of the total. Two patients with CMT2 phenotype were characterized by progressive lower limb weakness and atrophy with electromyogram changes of axonal degeneration in both motor and sensory nerves. Two patients with distal hereditary motor neuropathy (dHMN) phenotype exhibited progressive lower limb weakness and atrophy with electromyogram changes of axonal degeneration in motor nerves only. The age of onset was between five and 16 years, and the CMT neuropathy score was 2-9.Conclusions:The homozygous hot spot mutation of SORD gene (c.757delG, p.Ala253GlnfsTer27), and related childhood or adolescence onset, mildly affected CMT2/dHMN phenotypes are firstly reported in Chinese population. SORD gene-related CMT might be the most common subtype of AR-CMT2.

Objectives:This study aimed to evaluate the effect of the strategies on COVID-19 outbreak control in Shenzhen, and to clarify the feasibility of these strategies in metropolitans that have high population density and strong mobility.Methods:The epidemic feature of COVID-19 was described by different phases and was used to observe the effectiveness of intervention. Hierarchical spot map was drawn to clarify the distribution and transmission risk of infection sources at different time points. The Susceptible-Exposed-Infectious-Asymptomatic-Recovered model was established to estimate case numbers without intervention and compare with the actual number of cases to determine the effect of intervention. The positive rate of the nucleic acid test was used to reflect the risk of human exposure. A survey on COVID-19 related knowledge, attitude and behaviors were used to estimate the abilities of personal protection and emergency response.Results:The epidemic of COVID-19 in Shenzhen experienced the rising, plateau and decline stage. The case number increased rapidly at the beginning, with short duration of peak period. Although the epidemic curve showed human-to-human transmission, the "trailing" was not obvious. From the spot map, during the intervention period, the source of infection was widely distributed. More cases and higher transmission risk were observed in areas with higher population density. After the effective intervention measures, both infection sources and the risk of transmission decreased. After compared with the estimated case numbers without intervention, actual number proved the COVID-19 control strategies were effective. The positive rate of nucleic acid test for high risk populations decreased and no new cases reported since February 16. Shenzhen citizens had high knowledge, attitude and behavior level, and high protection ability and emergency response.Conclusions:Although the response initiated by the health administration department played a key role at the early stage of the epidemic, it was not enough to contain the outbreak of COVID-19. The first-level emergency response initiated by provincial and municipal government was effective and ensured the start of work resumption after the Spring Festival. Metropolitans like Shenzhen can also achieve the goals of strategies and measures for containment and mitigation of COVID-19.

Objective To analyze the electrophysiological characteristics of Charcot-Marie-Tooth (CMT) disease 1A,1X,2A and myelin protein zero (MPZ)-related CMT in Chinese patients.Methods Baseline electrophysiological data from 36 CMT1A patients,78 CMT1X patients,31 CMT2A patients and 10 MPZ-related CMT patients in the Third Xiangya Hospital and Xiangya Hospital of Central South University during 2004-2018 were analyzed.Electrophysiological recordings were taken from the upper limbs (median nerve,ulnar nerve) and lower limbs (tibial nerve,peroneal nerve).Demyelination in different nerve segments was assessed by measurement of distal motor latency,motor nerve conduction velocity (MNCV),sensory nerve conduction velocity and F-wave latency,and calculation of conduction block,terminal latency index (TLI) and modified F ratio (MFR);Axonal degeneration was assessed by measuring compound motor action potential (CMAP) and sensory nerve action potential.The relationship between the gender,age at onset,duration,Overall Neuropathy Limitation Scale (ONLS) score and indexes of peripheral nerve electrophysiology was statistically analyzed.Results The peripheral nerves of CMT1A patients were characterized by uniform demyelination and axonal degeneration.MNCV ((21.39± 6.72) m/s) and CMAP amplitude (2.40 (3.50) mY) of median nerve of CMT1A patients were decreased.The peripheral nerves of CMT1X patients were also characterized by uniform demyelination and axonal degeneration.MNCV (35.20 (6.77) m/s) and CMAP amplitude (2.60 (3.79) mY) of median nerve of CMT1X patients were decreased.CMT2A patients showed axonal degeneration of the peripheral nerves and CMAP amplitude ((4.75 ±2.38) mV) of median nerve of CMT2A patients was decreased.The electrophysiological data in MPZ-related CMT patients demonstrated variability.The TLI and MFR for the median and ulnar nerves in these four subtypes were normal.MNCV (r=0.423,P=0.025) of median nerve in CMT1A patients was positively correlated with age at onset.MNCV (r=0.782,P=-0.013) of median nerve in MPZ-related CMT patients was positively correlated with age at onset.CMAP amplitude (r=0.652,P＜0.01) of median nerve in CMT2A patients was positively correlated with age at onset.Demyelination and axonal degeneration in male CMT1X patients were relatively more severe than those in female patients,and MNCV (Z=-3.300,P＜0.01) and CMAP amplitude (Z=-3.960,P＜0.01) of median nerve,MNCV (Z=-2.56,P=0.011) and CMAP amplitude (Z=-2.311,P=0.048) of ulnar nerve of male patients were lower than those of female patients.The ONLS score of CMT1A (r=-0.494,P＜0.01),CMT1X (r=-0.596,P＜0.01) and CMT2A patients (r=-0.494,P=0.012) was inversely associated with CMAP amplitude.Conclusions The electrophysiological characteristics of CMT1A,CMT1X,CMT2A and MPZ-related CMT are different.Electrophysiological examinations are the basis of clinical classification and could provide guidance for further genetic testing and diagnosis.CMAP amplitude may serve as an objective index to assess the severity of functional disability in CMT patients.

Objective To evaluate the effect of schistosomiasis control in“Oriental Star shipwreck event”in Jianli County, Hubei Province,so as to provide experiences for schistosomiasis prevention and control in rescue of emergency in the future. Methods According to the data of historical schistosomiasis prevalence and the results of the field survey in the townships in the upstream and downstream of the rescue spots,the emergency handling measures of schistosomiasis control were evaluated. Meanwhile,the Oncomelania hupensis snail situation,priority crowd chemotherapy,key aquatic monitoring,and illness moni?toring of people and livestock were investigated to evaluate the schistosomiasis control effect after the events comprehensively. Results There were no schistosome?infected snails found in the place of shipwreck and the rescue spots. The average density of O. hupensis snails in 5 townships of Jianli County was 0.064 snails/0.1 m2 ,and there were no infected snails found. The positive rate of 2 090 migrants in the schistosomiasis serologic tests was 0.29%and there were no positive ones found in the fecal exami?nation. There were no acute schistosomiasis cases found by the sentinel surveillance fever clinics,and also no positive cattle were found. The results of sentinel mice monitoring in the place of shipwreck and 4 villages in the upstream and downstream showed no infected mice were found. Conclusion The schistosomiasis control measures taken after the shipwreck is effective, which achieves the goal of no schistosomiasis transmission after emergency.

As national strategic resources,traditional Chinese medicine (TCM) resource is the material basis for the pharmaceutical industry and health services.The high-efficiency utilization of TCM resource is a major strategic issue that realize the resource conservation and environment friendly recycling economy,guarantee the sustainable development of medicine.But currently,on one hand,the wild TCM resource was seriously damaged and in a serious shortage of stock,the cultivation variety was degenerated,the tending of endangered medicinal materials and the development of alternative varieties were faced many problems.On the other hand,the limited resources cannot be effectively utilized,which results in the waste of resources.Therefore,two ecological restricted resources,poria cocos and Chinese gall,were studied for comprehensive utilization of resources to explore the comprehensive exploitation and utilization of TCM resource as well as the pattern of sustainable development.We suggested that TCM resource should be taken into account as a whole for comprehensive utilization.We should especially pay attention to basic research for the sustainable development of TCM resource,discovery of bioactive substance,excavation and transformation for functional components,the use of biotechnology,the product development,the formation and extension of industry chain.So as the comprehensive exploitation and utilization of TCM resources and sustainable development would be realized.

Objective To investigate the effect and current situation of the standardized construction of laboratories of schis?tosomiasis control institutions in Hubei Province,so as to provide the evidence for establishing and improving the quality control system of diagnosis of schistosomiasis after the transmission of schistosomiasis was under control. Methods According to the procedures of self?examination,field operation,and laboratory on?site,five laboratories were assessed,and all the results were analyzed comparatively. Results The average number of staffs were(7.00 ± 1.58)persons,and the staffs of the laboratories of the schistosomiasis control institutions with senior professional titles in the city level were more than that in the county level(t=5.563,P<0.05). The average space was(3.20±1.64)rooms,and the average area was(117.00±88.29)m2. The average score of field operation was(96.40 ± 4.49)points. The average score of laboratory on?site assessment was(106.6 ± 6.15)points. The highest and lowest of the laboratory on?site assessment scores were environment and facilities(19.60 ± 0.55)points and manage?ment system of laboratory quality control(15.70 ± 2.39)points(F=2.869,P<0.05),respectively. Conclusion The cultiva?tion of laboratory staff should be strengthened,and the diagnostic capacity should be maintained and improved. The laboratory quality control system should be paid more attention to,and the construction and management of schistosomiasis laboratories should be standardized.