The clinical characteristics of a neonatal patient with movement disorder and arthrogryposis (NDEEMA) caused by gain-of-function mutation of the SCN1A gene were reported in this article. The 1-year-and-9-month-old boy started seizures since 2 hours after birth. He had funnel-breast, dislocation of the hip, and bipedal varus. Genetic testing showed SCN1A gene de novo missense mutation c.706A>G(p.Ile236Val), causing overall gain-of-function effect. The frequency of seizures decreased significantly after treatment of oxcarbazepine.

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Objectives:To investigate the impact of the Micra AV leadless pacemaker on cardiac function.Methods:A total of 76 patients who received the implantation of Micra AV leadless pacemaker due to sick sinus syndrome or atrioventricular block at Ruijin Hospital,Shanghai Jiao Tong University School of Medicine from September 2022 to April 2023 were included in this study.Among them,26 patients(34.2%)had sick sinus syndrome,and 50 patients(65.8%)had atrioventricular block.The patients were followed up for 1 year postoperatively.Cardiac function was evaluated by echocardiography,and the parameters of the pacemaker were collected through the outpatient clinic programming system.Results:After a follow-up of 120(87,181)days,compared with the preoperative state,the left ventricular ejection fraction(LVEF)decreased postoperatively([66.6±5.6]%vs.[63.8±5.2]%,P<0.001),and the cardiac output increased[(4.3±1.2)L/min vs.(5.3±1.5)L/min,P<0.001].There were no statistically significant differences in various cardiac function indexes of patients with sick sinus syndrome between the postoperative and preoperative states(all P>0.05).Compared with the preoperative state,in patients with atrioventricular block,the LVEF decreased postoperatively([67.0±5.1]%vs.[63.4±4.4]%,P<0.001),the cardiac output increased([4.2±1.1]L/min vs.[5.2±1.2]L/min,P<0.001),and the left ventricular end-diastolic diameter decreased[(49.9±5.4)mm vs.(48.6±5.0)mm,P=0.044].Firth's logistic regression analysis indicated that the preoperative LVEF(for every 1%increase,OR=1.56,95%CI:1.12-2.17,P=0.001),stroke volume(for every 1 ml increase,OR=1.15,95%CI:1.04-1.28,P=0.001),body mass index(for every 1 kg/m2 increase,OR=1.49,95%CI:1.02-2.17,P=0.020),and hypertension(OR=12.71,95%CI:1.11-145.13,P=0.039)were independent risk factors for the decrease in LVEF after surgery in patients with atrioventricular block.After the implantation of the MciraTM AV leadless pacemaker,the overall atrioventricular synchrony rate was 81.2%(68.8%,89.0%).The atrioventricular synchrony rates of patients with sick sinus syndrome and those with atrioventricular block were 70.6%(59.5%,83.4%)and 82.4%(74.2%,89.3%)respectively(P<0.05).Firth's logistic regression analysis indicated that sick sinus syndrome(OR=0.26,95%CI:0.07-0.89,P=0.029)and preoperative LVEF(for every 1%increase,OR=1.18,95%CI:1.03-1.35,P=0.015)were independent predictive factors for the atrioventricular synchrony rate>80%.Conclusions:There are differences in the impacts of the Micra AV leadless pacemaker on the LVEF and atrioventricular synchrony rate between patients with sick sinus syndrome and those with atrioventricular block.The preoperative LVEF,stroke volume,body mass index,and hypertension have independent predictive effects on the decrease in postoperative LVEF in patients with atrioventricular block.Sick sinus syndrome and preoperative LVEF are independent predictive factors for the atrioventricular synchrony rate>80%after surgery.

AIM:To explore the efficacy and safe-ty of two drugs in diagnosed idiopathic membra-nous nephropathy(IMN).METHODS:A retrospec-tive study was conducted on 113 patients diag-nosed with IMN by renal biopsy or PLA2R antibody positive at the department of nephrology,yijishan hospital,wannan medical college from november 2019 to July 2024,of whom 55 received cyclophos-phamide treatment and 58 received rituximab treatment,and follow-up was ≥6 months.RESULTS:At 6 months,38 patients(69.09％)in the cyclophos-phamide treatment group and 36 patients(62.07％)in the rituximab treatment group had achieved a combined response(complete or partial response).At 12 and 18 months,there was no statistical differ-ence in the combined response rate between the two groups(70.83％vs.83.87％,P=0.186 and 73.68％vs.73.68％,P=1.000),but at 12 months,the combined response rate in the rituximab group was higher than that in the cyclophosphamide group.In IMN patients with eGFR＜60 mL/(min·1.73 m2),rituximab significantly improved renal function(P=0.008).Over the entire follow-up peri-od,the total number of adverse events was higher in the cyclophosphamide group than in the ritux-imab group(57 vs..45),and the incidence of non-serious adverse events was higher than in the ritux-imab group(P=0.039).CONCLUSION:The efficacy of rituximab in the treatment of IMN is not inferior to that of cyclophosphamide,and it has better safety.Rituximab improved renal function better than cy-clophosphamide in patients with eGFR＜60 mL/(min·1.73 m2)IMN.

Renal injury is one of the common ad-verse reactions in the clinical application of chemo-therapy drugs,which is the main reason why the chemotherapy can not be carried out in the whole cycle.The pathological mechanism of chemothera-py-induced renal injury is very complicated,mainly involving oxidative stress,inflammatory response,apoptosis,mitochondrial dysfunction,and regula-tion of transporters,causing pathological damage to renal tubules or glomeruli.At present,there is no specific pharmacological intervention for the treatment of chemotherapy-induced renal injury.As a treasure of traditional Chinese medicine,tradi-tional Chinese medicine has the advantages of overall regulation,multi-targeting,small adverse re-actions and no obvious drug dependence in the prevention and treatment of chemotherapy-in-duced renal injury.In recent years,there have been more and more studies on the intervention of che-motherapy-induced renal injury by multi-compo-nent and multi-directional intervention of active components,extracts and compounds of tradition-al Chinese medicine,and some progress has been made.A large number of studies have shown that the potential mechanisms of traditional Chinese medicine in preventing and treating renal injury in-duced by chemotherapy include inhibiting oxida-tive stress,reducing inflammatory response and in-hibiting apoptosis.Although there are many stud-ies on the mechanism of action of traditional Chi-nese medicine in the treatment of chemotherapy-induced renal injury,there is still a lack of systemat-ic review.Based on this,this paper summarizes the mechanism of renal injury induced by chemothera-py and the intervention of traditional Chinese medi-cine,so as to provide theoretical support for its clinical treatment and new drug innovation.

BACKGROUND:Gait analysis,as a radiation-free dynamic assessment method,may be able to assist imaging to evaluate patients with scoliosis,thereby reducing radiation exposure.OBJECTIVE:To analyze the correlation between gait parameters and imaging parameters in adolescent idiopathic scoliosis patients,and preliminarily explore the potential mechanism through OpenSim simulation modeling.METHODS:Twenty adolescent idiopathic scoliosis patients aged 10-18 years with Cobb angle of 10°-45° were selected as adolescent idiopathic scoliosisgroup. The control group was normal children of the same age and the same body mass index range,and a total of 40 subjects were included. The differences in spatiotemporal parameter,kinematic parameters,dynamic parameters,and gait deviation index of the two groups were compared to explore the correlation between pathological gait and coronal balance. The related mechanisms were preliminarily studied.RESULTS AND CONCLUSION:(1) The comparison of gait parameters between groups showed that the percentage of bilateral support phase and double support phase increased in adolescent idiopathic scoliosis patients,and the percentage of bilateral swing phase decreased (P<0.05). The maximum adduction angle of the left hip joint of patients in the adolescent idiopathic scoliosis group was greater than that of the control group,and the maximum abduction angle of the bilateral hip joints was significantly less than that of the control group (P<0.05). The ankle joints of the two groups when the bilateral heels initially touched the ground;the difference between angles was significant (P<0.05). The peak power of right hip flexor muscle group in adolescent idiopathic scoliosis patients was significantly decreased when they pushed off the ground (P<0.05). (2) The results of the correlation study showed that the maximum abductive angle of the right hip joint was significantly positively correlated with the Cobb angle (r=0.552,P=0.012),and the right peak power of right hip flexor muscle and C7 lateral offset were significantly negatively correlated (r=-0.475,P=0.034). There was a significant positive correlation between ankle angle and lateral pelvic tilt when left foot followed the ground (r=0.476,P=0.034). (3) The simulation results of muscle length showed that the change of muscle fiber length of gluteal medium muscle in adolescent idiopathic scoliosis patients was significantly reduced (P<0.05). The change of muscle fiber length of the bilateral internal oblique muscle was significantly reduced in adolescent idiopathic scoliosis patients (P<0.05). Comparing the muscle fiber length of the two groups when foot followed the ground,it was found that the muscle fiber length of the calf triceps of the adolescent idiopathic scoliosis patients was significantly shorter when foot followed the ground (P<0.05). (4) The results showed that the postural stability control of the trunk of adolescent idiopathic scoliosis patients was decreased,which was manifested as slow step frequency,increased percentage of double support phase and decreased percentage of swing phase. The common pattern of low foot striking pattern is caused by bilateral Achilles tendon tension. In adolescent idiopathic scoliosis patients,the ability of hip flexor muscle to do work is decreased,which may be related to joint angular velocity and main bend direction.

Objectives:To investigate the impact of the Micra AV leadless pacemaker on cardiac function.Methods:A total of 76 patients who received the implantation of Micra AV leadless pacemaker due to sick sinus syndrome or atrioventricular block at Ruijin Hospital,Shanghai Jiao Tong University School of Medicine from September 2022 to April 2023 were included in this study.Among them,26 patients(34.2%)had sick sinus syndrome,and 50 patients(65.8%)had atrioventricular block.The patients were followed up for 1 year postoperatively.Cardiac function was evaluated by echocardiography,and the parameters of the pacemaker were collected through the outpatient clinic programming system.Results:After a follow-up of 120(87,181)days,compared with the preoperative state,the left ventricular ejection fraction(LVEF)decreased postoperatively([66.6±5.6]%vs.[63.8±5.2]%,P<0.001),and the cardiac output increased[(4.3±1.2)L/min vs.(5.3±1.5)L/min,P<0.001].There were no statistically significant differences in various cardiac function indexes of patients with sick sinus syndrome between the postoperative and preoperative states(all P>0.05).Compared with the preoperative state,in patients with atrioventricular block,the LVEF decreased postoperatively([67.0±5.1]%vs.[63.4±4.4]%,P<0.001),the cardiac output increased([4.2±1.1]L/min vs.[5.2±1.2]L/min,P<0.001),and the left ventricular end-diastolic diameter decreased[(49.9±5.4)mm vs.(48.6±5.0)mm,P=0.044].Firth's logistic regression analysis indicated that the preoperative LVEF(for every 1%increase,OR=1.56,95%CI:1.12-2.17,P=0.001),stroke volume(for every 1 ml increase,OR=1.15,95%CI:1.04-1.28,P=0.001),body mass index(for every 1 kg/m2 increase,OR=1.49,95%CI:1.02-2.17,P=0.020),and hypertension(OR=12.71,95%CI:1.11-145.13,P=0.039)were independent risk factors for the decrease in LVEF after surgery in patients with atrioventricular block.After the implantation of the MciraTM AV leadless pacemaker,the overall atrioventricular synchrony rate was 81.2%(68.8%,89.0%).The atrioventricular synchrony rates of patients with sick sinus syndrome and those with atrioventricular block were 70.6%(59.5%,83.4%)and 82.4%(74.2%,89.3%)respectively(P<0.05).Firth's logistic regression analysis indicated that sick sinus syndrome(OR=0.26,95%CI:0.07-0.89,P=0.029)and preoperative LVEF(for every 1%increase,OR=1.18,95%CI:1.03-1.35,P=0.015)were independent predictive factors for the atrioventricular synchrony rate>80%.Conclusions:There are differences in the impacts of the Micra AV leadless pacemaker on the LVEF and atrioventricular synchrony rate between patients with sick sinus syndrome and those with atrioventricular block.The preoperative LVEF,stroke volume,body mass index,and hypertension have independent predictive effects on the decrease in postoperative LVEF in patients with atrioventricular block.Sick sinus syndrome and preoperative LVEF are independent predictive factors for the atrioventricular synchrony rate>80%after surgery.

Renal injury is one of the common ad-verse reactions in the clinical application of chemo-therapy drugs,which is the main reason why the chemotherapy can not be carried out in the whole cycle.The pathological mechanism of chemothera-py-induced renal injury is very complicated,mainly involving oxidative stress,inflammatory response,apoptosis,mitochondrial dysfunction,and regula-tion of transporters,causing pathological damage to renal tubules or glomeruli.At present,there is no specific pharmacological intervention for the treatment of chemotherapy-induced renal injury.As a treasure of traditional Chinese medicine,tradi-tional Chinese medicine has the advantages of overall regulation,multi-targeting,small adverse re-actions and no obvious drug dependence in the prevention and treatment of chemotherapy-in-duced renal injury.In recent years,there have been more and more studies on the intervention of che-motherapy-induced renal injury by multi-compo-nent and multi-directional intervention of active components,extracts and compounds of tradition-al Chinese medicine,and some progress has been made.A large number of studies have shown that the potential mechanisms of traditional Chinese medicine in preventing and treating renal injury in-duced by chemotherapy include inhibiting oxida-tive stress,reducing inflammatory response and in-hibiting apoptosis.Although there are many stud-ies on the mechanism of action of traditional Chi-nese medicine in the treatment of chemotherapy-induced renal injury,there is still a lack of systemat-ic review.Based on this,this paper summarizes the mechanism of renal injury induced by chemothera-py and the intervention of traditional Chinese medi-cine,so as to provide theoretical support for its clinical treatment and new drug innovation.

BACKGROUND:Gait analysis,as a radiation-free dynamic assessment method,may be able to assist imaging to evaluate patients with scoliosis,thereby reducing radiation exposure.OBJECTIVE:To analyze the correlation between gait parameters and imaging parameters in adolescent idiopathic scoliosis patients,and preliminarily explore the potential mechanism through OpenSim simulation modeling.METHODS:Twenty adolescent idiopathic scoliosis patients aged 10-18 years with Cobb angle of 10°-45° were selected as adolescent idiopathic scoliosisgroup. The control group was normal children of the same age and the same body mass index range,and a total of 40 subjects were included. The differences in spatiotemporal parameter,kinematic parameters,dynamic parameters,and gait deviation index of the two groups were compared to explore the correlation between pathological gait and coronal balance. The related mechanisms were preliminarily studied.RESULTS AND CONCLUSION:(1) The comparison of gait parameters between groups showed that the percentage of bilateral support phase and double support phase increased in adolescent idiopathic scoliosis patients,and the percentage of bilateral swing phase decreased (P<0.05). The maximum adduction angle of the left hip joint of patients in the adolescent idiopathic scoliosis group was greater than that of the control group,and the maximum abduction angle of the bilateral hip joints was significantly less than that of the control group (P<0.05). The ankle joints of the two groups when the bilateral heels initially touched the ground;the difference between angles was significant (P<0.05). The peak power of right hip flexor muscle group in adolescent idiopathic scoliosis patients was significantly decreased when they pushed off the ground (P<0.05). (2) The results of the correlation study showed that the maximum abductive angle of the right hip joint was significantly positively correlated with the Cobb angle (r=0.552,P=0.012),and the right peak power of right hip flexor muscle and C7 lateral offset were significantly negatively correlated (r=-0.475,P=0.034). There was a significant positive correlation between ankle angle and lateral pelvic tilt when left foot followed the ground (r=0.476,P=0.034). (3) The simulation results of muscle length showed that the change of muscle fiber length of gluteal medium muscle in adolescent idiopathic scoliosis patients was significantly reduced (P<0.05). The change of muscle fiber length of the bilateral internal oblique muscle was significantly reduced in adolescent idiopathic scoliosis patients (P<0.05). Comparing the muscle fiber length of the two groups when foot followed the ground,it was found that the muscle fiber length of the calf triceps of the adolescent idiopathic scoliosis patients was significantly shorter when foot followed the ground (P<0.05). (4) The results showed that the postural stability control of the trunk of adolescent idiopathic scoliosis patients was decreased,which was manifested as slow step frequency,increased percentage of double support phase and decreased percentage of swing phase. The common pattern of low foot striking pattern is caused by bilateral Achilles tendon tension. In adolescent idiopathic scoliosis patients,the ability of hip flexor muscle to do work is decreased,which may be related to joint angular velocity and main bend direction.

AIM:To explore the efficacy and safe-ty of two drugs in diagnosed idiopathic membra-nous nephropathy(IMN).METHODS:A retrospec-tive study was conducted on 113 patients diag-nosed with IMN by renal biopsy or PLA2R antibody positive at the department of nephrology,yijishan hospital,wannan medical college from november 2019 to July 2024,of whom 55 received cyclophos-phamide treatment and 58 received rituximab treatment,and follow-up was ≥6 months.RESULTS:At 6 months,38 patients(69.09％)in the cyclophos-phamide treatment group and 36 patients(62.07％)in the rituximab treatment group had achieved a combined response(complete or partial response).At 12 and 18 months,there was no statistical differ-ence in the combined response rate between the two groups(70.83％vs.83.87％,P=0.186 and 73.68％vs.73.68％,P=1.000),but at 12 months,the combined response rate in the rituximab group was higher than that in the cyclophosphamide group.In IMN patients with eGFR＜60 mL/(min·1.73 m2),rituximab significantly improved renal function(P=0.008).Over the entire follow-up peri-od,the total number of adverse events was higher in the cyclophosphamide group than in the ritux-imab group(57 vs..45),and the incidence of non-serious adverse events was higher than in the ritux-imab group(P=0.039).CONCLUSION:The efficacy of rituximab in the treatment of IMN is not inferior to that of cyclophosphamide,and it has better safety.Rituximab improved renal function better than cy-clophosphamide in patients with eGFR＜60 mL/(min·1.73 m2)IMN.