Objective To investigate the clinical characteristics of Charcot-Marie-Tooth disease(CMT),and conduct genetic analysis.Methods The clinical data of 2 families were retrospectively analyzed.Results The proband of family 1 had atrophy of bilateral thigh and calf muscles,serum creatine kinase(CK)was 292 U/L,and EMG examination showed peripheral nerve damage of upper and lower limbs(mainly axonal).Genetic testing revealed that the proband carried a heterozygous mutation of NEFH:NM＿02107:c.3057dupG:p.K1020Efs*43.According to American College of Medical Genetics and Genomics(ACMG),the variant of NEFH gene was interpreted as likely pathogenic(PS3＿moderate+PM2+PM4+PP1).The proband of family 2 had scoliosis,calf muscle atrophy,flat foot,blood creatine kinase 80 U/L,and EMG examination showed peripheral nerve damage in the upper and lower limbs(mainly axonal).Genetic testing revealed that the proband carried a heterozygous mutation of the MFN2:NM＿014874:c.746C＞G:p.S249C.This mutation had not been reported and included in the relevant literature,and was likely to be pathogenic according to the ACMG regulation rating(Likely Pathogenic:PM1+PM2+PM5+PP3).Conclusions The clinical manifestations of the two families are muscle weakness with muscle atrophy,normal or mild elevation of creatine kinase,disappearance of tendon reflex,arched foot,and electromyography indicating neurogenic damage.Gene testing reveals that the probands carried heterozygous mutations in the NEFH and MFN2 genes,respectively.

Purpose To explore the expression of autoph-agy-related 7(ATG7)in breast cancer and its effect on the breast cancer development.Methods Immunohistochemistry(IHC)was used to detect ATG7 protein expression in breast cancer tissues and the relationship between ATG7 and clinico-pathological features was analyzed.ShRNA was used to interfere with the expression of ATG7 in breast cancer cell line MCF-7.Puromycin was used to screen for stably transfected cells and Western blot was used to detect transfection efficiency.The effect of ATG7 knockdown cells on proliferation ability was de-tected by CCK8 and clone formation experiments.The effect of ATG7 knockdown cells on tumorigenicity in vivo was detected by subcutaneous tumor formation experiment in nude mice.Results IHC showed that ATG7 expression in breast cancer tissues was mainly localized in cytoplasm,and its expression was significant-ly correlated with tumor size and Ki67 expression(P＜0.05).ATG7-shRNA significantly interfered with ATG7 expression in breast cancer cells MCF-7.CCK8 and clone formation experi-ments showed that ATG7 knockdown promoted the cell prolifera-tion compared with the control group.The experiment of subcu-taneous tumor formation in nude mice showed that the tumor for-mation ability of mice was significantly increased after ATG7 knockdown compared with the control group.Conclusion ATG7 may inhibit the proliferation capacity of breast cancer and could be a potential target for breast cancer therapy.

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

Objective:To identify the phosphodiesterase (PDE) activity of the gene product encoded by LA_RS06960 of Leptospira interrogans ( L. interrogans), and analyze whether dinucleotides that can be degraded by PDE can activate macrophages to express innate immune factors. Methods:The LA_RS06960 gene in L. interrogans strain 56601 was amplified by PCR, and the prokaryotic expression system was constructed for the protein expression. The expressed rPDE was purified by Ni-NTA affinity chromatography. High performance liquid chromatography (HPLC) was used to measure the degration of c-di-AMP or 5′-pApA to AMP by rPDE. Real-time fluorescent quantitative RT-PCR (qRT-PCR) was used to detect the changes in the expression of target genes in Leptospira or THP-1 cells associated with innate immune factors during infection. qRT-PCR and ELISA were used to detect the changes in the expression and secretion level of the innate immune factors in macrophages treated with bacterial dinucleotide. Results:The prokaryotic expression system for LA_RS06960 gene of L. interrogans was constracted successfully, and the purified rPDE could degrate 5′-pApA and c-di-AMP into AMP in vitro. The mRNA level of leptospiral LA_RS06960 gene was significantly down-regulated, while IFN-β, TNF-α, IL-6 and IL-1β encoding genes of macrophages were significantly up-regulated during infection. The mRNA level or the secretion level of IFN-β and IL-6 of macrophages were increased after treated with the bacterial dinucleotide substrate of PDE. Conclusions:PDE encoded by LA_RS06960 gene has phosphodiesterase activity, and the bacterial dinucleotide substrate of the PDE could activate the innate immune response of macrophages.

Objective:To understand the in vitro antimicrobial resistance and resistance phenotypes profile of Streptococcus suis strains isolated from human in Zhejiang Province. Methods:The strains of sporadic Streptococcus suis infections were isolated during 2005 to 2021 in Zhejiang Province, and were subjected to antimicrobial resistance analysis using agar dilution method. Polymerase chain reaction (PCR) technology was also used to detect 70 resistance genes including tetracyclines, macrolides and aminoglycosides. Results:The results of antimicrobial resistance analysis showed that these strains were sensitive to eleven kinds of antimicrobial agents with a sensitivity rate ≥96.8%, including cefepime, cefotaxime, ceftriaxone, chloramphenicol, daptomycin, ertapenem, levofloxacin, linezolid, meropenem, penicillin and vancomycin. These strains were mainly resistant to tetracycline, clindamycin, azithromycin and erythromycin, especially resistant to tetracycline with a rate of 93.5%(29/31). Fourteen strains (45.2%) exhibited multidrug resistant patterns. The PCR analysis of 70 drug resistance genes showed that 14(20.0%) different resistance genes were detected. The highest detection rate of resistant genes came from tetracycline, including tet ( O) gene (58.1%, 18/31), tet ( M) gene (48.4%, 15/31), tet ( 40) gene (35.5%, 11/31), followed by ermB gene (41.9%, 13/31) in the class of macrolide. Fourteen strains (45.2%) with more than three drug resistance genes were detected, of which eight strains (25.8%) detected 10 drug resistance genes. The analysis of antibiotic resistance and resistance phenotypes profile showed that tet ( M)+ ST7 accounted for 35.5%(11/31), tet( O)+ tet( 40)+ ermB+ mef( A)+ mef( A/ E)+ msrD+ Ant( 6)- Ⅰb+ aph( 3′)- Ⅲa+ aadB+ sat4+ ST7 accounted for 25.8%(8/31). Conclusions:The antimicrobial resistance and resistance phenotypes profile of sporadic Streptococcus suis strains isolated from human in Zhejiang Province are endemic, with mainly two types of characteristic genetic cloning of drug resistance genes.

Objective:To investigate the clinical significance of autologous platelet separation (APS) in different time courses of cardiovascular surgery.Methods:The relevant data of 75 patients with cardiovascular surgery from September 2019 to August 2021 in Hunan Provincial Peoples′ Hospital were collected retrospectively. They were divided into two groups according to whether APS was used during the operation: group A used APS (37 cases) and group B did not use APS (38 cases). The two groups were divided into subgroups according to the length of cardiopulmonary bypass (CPB): A1 and B1 were medium and short-term groups (CPB bypass time ≤200 min), and A2 and B2 were long-term groups (CPB bypass time >200 min). Blood routine, postoperative drainage volume, postoperative blood product infusion volume and thromboelastogram at different time points were recorded and compared.Results:The postoperative drainage volume, red blood cell infusion volume and ventilator assisted time in group A were less than those in group B (all P<0.05); The postoperative drainage volume [(645.79±205.25)ml vs (886.67±360.96)ml, P=0.006], erythrocyte infusion volume [(3.24±2.53)U vs (4.77±1.97)U, P=0.016], platelet infusion volume [0.00(0.00, 0.00)U vs 1.00(0.125, 2.00)U, P=0.002] and thromboelastogram coagulation reaction time [(7.38±1.74)min vs (9.09±3.57)min, P=0.047] in group A2 were significantly better than those in group B2 (all P<0.05); There were no significant difference in the above indexes between A1 and B1 group (all P>0.05). Conclusions:APS can improve the coagulation function of patients undergoing cardiopulmonary bypass and reduce the amount of bleeding and blood products. Its protective effect is more prominent in high-risk cardiovascular surgery with long cardiopulmonary bypass and complex operation.

Objective:To discuss the safety and effectiveness of del Nido cardioplegia solution in severe valvular surgery.Methods:A retrospective analysis of 138 patients of severe valvular disease underwent valve replacement or valvuloplasty in Hunan Provincial People′s Hospital between July 2019 and December 2020 was performed. According to the different cardioplegic solution used, patients were separated in two groups: the del Nido cardioplegia group (D group, n=73) and the St. Thomas cardioplegia group (C group, n=65). The perioperative clinical results of the two groups were compared to evaluate the safety and effectiveness of del Nido cardioplegia in the operation of severe valvular disease. Results:Preoperative characteristics were similar between the two groups, including gender, age, body weight, ejection fraction, and myocardial markers ( P>0.05). No statistical differences were noted in cardiopulmonary bypass time, clamp time, mechanical ventilation time, vasoactive drug use time, ICU and hospital stay time, and ejection fraction before discharge ( P>0.05). However, the times of cardioplegia perfusion [(1.33±0.47)times vs (4.08±0.48)times] and the total perfusion time [(3.96±1.41)min vs (13.15±1.46)min] in group D were lower than those in group C, while the automatic rebound rate (90.41% vs 76.92%) was higher than that in group C ( P<0.05). Both groups successfully completed the operation. There were no serious complications of important organs such as low cardiac output, brain, liver and kidney during and after the operation. There were no deaths during hospitalization, and all patients were cured and discharged. Conclusions:There was no significant difference in myocardial protection between del Nido and St. Thomas cardioplegia solution in severe valvular surgery. The application of del Nido cardioplegia could reduce the frequency of perfusions and total perfusion time.

Background: Cardiopulmonary resuscitation (CPR) strategies in COVID-19 patients differ from those in patients suffering from cardiogenic cardiac arrest. During CPR, both healthcare and non-healthcare workers who provide resuscitation are at risk of infection. The Working Group for Expert Consensus on Prevention and Cardiopulmonary Resuscitation for Cardiac Arrest in COVID-19 has developed this Chinese Expert Consensus to guide clinical practice of CPR in COVID-19 patients. Main recommendations: 1) A medical team should be assigned to evaluate severe and critical COVID-19 for early monitoring of cardiac-arrest warning signs. 2) Psychological counseling and treatment are highly recommended, since sympathetic and vagal abnormalities induced by psychological stress from the COVID-19 pandemic can induce cardiac arrest. 3) Healthcare workers should wear personal protective equipment (PPE). 4) Mouth-to-mouth ventilation should be avoided on patients suspected of having or diagnosed with COVID-19. 5) Hands-only chest compression and mechanical chest compression are recommended. 6) Tracheal-intubation procedures should be optimized and tracheal-intubation strategies should be implemented early. 7) CPR should be provided for 20-30 min. 8) Various factors should be taken into consideration such as the interests of patients and family members, ethics, transmission risks, and laws and regulations governing infectious disease control. Changes in management: The following changes or modifications to CPR strategy in COVID-19 patients are proposed: 1) Healthcare workers should wear PPE. 2) Hands-only chest compression and mechanical chest compression can be implemented to reduce or avoid the spread of viruses by aerosols. 3) Both the benefits to patients and the risk of infection should be considered. 4) Hhealthcare workers should be fully aware of and trained in CPR strategies and procedures specifically for patients with COVID-19.

In December 2019, novel coronavirus pneumonia epidemic occurred in Wuhan, Hubei Province, and spread rapidly across the country. In the early stages of the epidemic, China adopted the containment strategy and implemented a series of core measures around this strategic point, including social mobilization, strengthening case isolation and close contacts tracking management, blocking epidemic areas and traffic control to reduce personnel movements and increase social distance, environmental measures and personal protection, with a view to controlling the epidemic as soon as possible in limited areas such as Wuhan. This article summarizes the background, key points and core measures in the country and provinces. It sent prospects for future prevention and control strategies.

Objective To compare the clinical effectiveness of external fixation,expert tibial nail (ETN) and minimally invasive percutaneous plate osteosynthesis (MIPPO) in the treatment of AO type 43A tibial fractures.Methods The clinical data of 102 patients with AO type 43A tibial fracture were retrospectively analyzed who had been treated from June 2010 to June 2014.They were 68 men and 34 women,from 18 to 71 years of age (average,36 years).By AO classification,there were 36 cases of type A1,45 ones of type A2,and 21 ones of type A3.External fixation was used in 30 cases,MIPPO in 42,and ETN in 30.The 3 groups were compared in terms of operation time,blood loss,fracture healing time,complications and functional evaluation according to American Orthopaedic Foot and Ankle Society (AOFAS) criteria for middle and fore foot.Results The operation time in external fixation group (72.7 ± 16.1 min) was significantly less than in MIPPO group (101.5±15.1 min) and ETN group (115.0±11.2 min) (P ＜0.05).The blood loss and fracture healing time in external fixation group were (320.6 ±40.8 mL) and (160.6 ± 25.0 days),significantly greater than in MIPPO group (125.5 ± 27.3 mL and 120.3 ± 20.2 days)and ETN group (124.2±25.4mL and 125.5±25.6 days) (P ＜0.05).The total complication rate in external fixation group (53.3％,16/30) was significantly higher than in MIPPO group (9.5％,4/42) and ETN group (10.0％,3/30) (P ＜ 0.05).The total AOFAS excellent to good rate in external fixation group (66.7％,20/30) was significantly lower than in MIPPO group (88.1％,37/42) and ETN group (90.0％,27/30) (P ＜ 0.05).However,there were no significant differences between MIPPO and ETN groups concerning all the above outcome indicators (P ＞ 0.05).Conclusions For AO type 43A tibial fractures,internal fixation should be the first choice.Both MIPPO and ETN can lead to good clinical efficacy.However,in cases where internal fixation is not suitable,external fixation with distal lateral tibial nails at the Chaput tuberosity can obtain satisfactory ankle function.