Objective To study carbapenem-resistant Enterobacterales(CRE)infection in the neurosurgical inten-sive care unit(NS-ICU)under the combination of active screening using anal swabs and bundled intervention mea-sures in environment with high prevalence of CRE infection,and provide scientific basis for healthcare-associated in-fection(HAI)prevention and control.Methods Inpatients in NS-ICU from 2020 to 2021 were selected as the con-trol group,and didn't undergo active anal swab screening.NS-ICU inpatients from 2022 to 2023 were taken as the trial group,and implemented intervention of active anal swab screening.Isolation measures for CRE positive cases in two groups were implemented,and the incidence of CRE HAI between two groups of patients were compared.Results 645 patients were actively screened for CRE,with a total of 912 screenings.The overall screening positive rate was 9.21％,and the rectal CRE colonization rate in NS-ICU patients was 13.02％(84/645),out of which Klebsiella pneumoniae accounted for 92.86％(n=78 strains).The positive screening rates in patients in the trial group within 48 hours after admission as well as on day 3-7,day 8-15,and 16-30 were 3.30％,4.94％,13.68％,and 18.85％,respectively.With prolonged hospitalization time,the positive rate of CRE anal swab screening gradually increased.During the study period,the overall CRE HAI rate was 6.24％(72/1 153).After implementing active screening intervention,the CRE HAI rate in the trial group was lower than that in the control group(3.57％[23/645]vs 9.65％[49/508],P＜0.001).Conclusion In hospital environment with high CRE prevalence,implementing active screening and bundled intervention measures can effectively identify CRE carriers and reduce the risk of infection caused by intestinal colonization.

Objective To examine the safety, efficacy and durability of totally endoscopic minimally invasive (TEMI) mitral valve repair in Barlow’s disease (BD). Methods A retrospective study was performed on patients who underwent mitral valve repair for BD from January 2010 to June 2021 in the Guangdong Provincial People’s Hospital. The patients were divided into a MS group and a TEMI group according to the surgery approaches. A comparison of the clinical data between the two groups was conducted. Results A total of 196 patients were enrolled, including 133 males and 63 females aged (43.8±14.9) years. There were 103 patients in the MS group and 93 patients in the TEMI group. No hospital death was observed. There was a higher percentage of artificial chordae implantation in the TEMI group compared to the MS group (P=0.020), but there was no statistical difference between the two groups in the other repair techniques (P>0.05). Although the total operation time between the two groups was not statistically different (P=0.265), the TEMI group had longer cardiopulmonary bypass time (P<0.001) and aortic clamp time (P<0.001), and shorter mechanical ventilation time (P<0.001) and postoperative hospitalization time (P<0.001). No statistical difference between the two groups in the adverse perioperative complications (P>0.05). The follow-up rate was 94.2% (180/191) with a mean time of 0.2-12.4 (4.0±2.4) years. Two patients in the MS group died with non-cardiac reasons during the follow-up period. The 3-year, 5-year and 10-year overall survival rates of all patients were 100.0%, 99.2%, 99.2%, respectively. Compared with the MS group, there was no statistical difference in the survival rate, recurrence rate of mitral regurgitation, reoperation rate of mitral valve or adverse cardiovascular and cerebrovascular events in the TEMI group (P＞0.05). Conclusion TEMI approach is a safe, feasible and effective approach for BD with a satisfying long-term efficacy.

Objective To study carbapenem-resistant Enterobacterales(CRE)infection in the neurosurgical inten-sive care unit(NS-ICU)under the combination of active screening using anal swabs and bundled intervention mea-sures in environment with high prevalence of CRE infection,and provide scientific basis for healthcare-associated in-fection(HAI)prevention and control.Methods Inpatients in NS-ICU from 2020 to 2021 were selected as the con-trol group,and didn't undergo active anal swab screening.NS-ICU inpatients from 2022 to 2023 were taken as the trial group,and implemented intervention of active anal swab screening.Isolation measures for CRE positive cases in two groups were implemented,and the incidence of CRE HAI between two groups of patients were compared.Results 645 patients were actively screened for CRE,with a total of 912 screenings.The overall screening positive rate was 9.21％,and the rectal CRE colonization rate in NS-ICU patients was 13.02％(84/645),out of which Klebsiella pneumoniae accounted for 92.86％(n=78 strains).The positive screening rates in patients in the trial group within 48 hours after admission as well as on day 3-7,day 8-15,and 16-30 were 3.30％,4.94％,13.68％,and 18.85％,respectively.With prolonged hospitalization time,the positive rate of CRE anal swab screening gradually increased.During the study period,the overall CRE HAI rate was 6.24％(72/1 153).After implementing active screening intervention,the CRE HAI rate in the trial group was lower than that in the control group(3.57％[23/645]vs 9.65％[49/508],P＜0.001).Conclusion In hospital environment with high CRE prevalence,implementing active screening and bundled intervention measures can effectively identify CRE carriers and reduce the risk of infection caused by intestinal colonization.

Epidemiology research has found that ABO blood group and the gene coding ABO glycosyltransferases are associated with many human diseases. The activity of ABO glycosyltransferases varies with different blood types, mediating different glycosylation modifications. The variation in glycosylation level might be the risk factor of specific disease. Based on the literature retrieval and analysis, glycosylation levels regulated by ABO glycosyltransferases mainly affect the ABH blood group antigens and von Willebrand factor (vWF). By modulating key glycosylation components, ABO glycosyltransferases partly determine the activity or expression levels of the ABH antigens and vWF, thereby affecting the development and progression of diseases. Exploring the pathogenic mechanisms of ABO glycosyltransferases can improve the understanding of the molecular pathology of related diseases and provide reference for clinical research and application.

Epidemiology research has found that ABO blood group and the gene coding ABO glycosyltransferases are associated with many human diseases. The activity of ABO glycosyltransferases varies with different blood types, mediating different glycosylation modifications. The variation in glycosylation level might be the risk factor of specific disease. Based on the literature retrieval and analysis, glycosylation levels regulated by ABO glycosyltransferases mainly affect the ABH blood group antigens and von Willebrand factor (vWF). By modulating key glycosylation components, ABO glycosyltransferases partly determine the activity or expression levels of the ABH antigens and vWF, thereby affecting the development and progression of diseases. Exploring the pathogenic mechanisms of ABO glycosyltransferases can improve the understanding of the molecular pathology of related diseases and provide reference for clinical research and application.

Objective:To summarize the long-term efficacy of nicotinamide in treating pediatric early-onset progressive encephalopathy with brain edema and (or) leukoencephalopathy-2 (PEBEL2) caused by NAXD gene variation .Methods:This was a case report conducted from February 2019 to January 2025. The long-term efficacy of nicotinamide was observed by following up a child with PEBEL2 who received the treatment in the Department of Neurology, Beijing Children′s Hospital Affiliated to Capital Medical University. The clinical data included changes in skin lesions, neurological symptoms. The modified Rankin scale (mRS) was used to evaluate the recovery of neurological function.Results:A boy was diagnosed with PEBEL2 caused by NAXD gene variation via genetic testing at Beijing Children′s Hospital Affiliated to Capital Medical University in February 2019, when he was 4 years and 6 months of age. Immediately after diagnosis, nicotinamide treatment was initiated at an initial dose of 100 mg/d, which was increased by 100 mg per week and gradually increased to 500 mg/d; meanwhile, other therapeutic drugs were gradually discontinued. After 1 year and 8 months of treatment, the child′s skin lesions had completely resolved; at the 2-year follow-up, dystonia in both upper limbs and swallowing dysfunction was alleviated significantly; by 2.5-year follow-up, his cognitive function also showed improvement. When the child was treated with 500 mg/d for 3 years, a rash appeared around the mouth. After the dose was reduced to 250 mg/d, the rash resolved, and the dose of 250 mg/d was maintained until the last follow-up. At the last follow-up in January 2025, the child was 10 years and 5 months of age. His mRS score decreased from 5 (before treatment) to 4. During the 6-year of continuous nicotinamide treatment, the child′s condition remained stable without progression. Drug-related skin rashes occurred, but no severe drug-related adverse reactions were observed.Conclusions:PEBEL2 is a treatable mitochondrial disease. Nicotinamide treatment can effectively improve skin lesions and neurological symptoms in PEBEL2 patients, and the long-term administration demonstrates a favorable safety profile.

A 23-year-old male patient was diagnosed with congenitally corrected transposition of great arteries (ccTGA) at the age of 3 years during a routine physical examination. Due to the absence of significant symptoms, the patient was managed conservatively with follow-up without surgical treatment. He developed chest tightness one year prior to admission, with symptom exacerbation in the recent month. Echocardiography demonstrated significantly worsened morphological tricuspid regurgitation. The patient presented to Guangdong Provincial People’s Hospital for surgical evaluation. Given the patient’s age and clinical presentation, a totally thoracoscopic morphological tricuspid valve replacement was performed. Postoperative assessment showed good prosthetic valve function, with no regurgitation or paravalvular leakage; the electrocardiogram confirmed sinus rhythm without atrioventricular block. Extubation occurred within 12 hours postoperatively, and the patient was transferred from the intensive care unit (ICU) on postoperative day 2. At the three-month follow-up, the patient was asymptomatic and had resumed normal activities. This report describes the first case of a totally thoracoscopic morphological tricuspid valve replacement in a ccTGA patient in China. This initial experience suggests that the totally thoracoscopic approach for morphological tricuspid valve replacement in ccTGA patients is a feasible, safe, and effective minimally invasive option associated with rapid recovery.

Objective:To discuss the clinical application value of echocardiography in evaluating the early outcomes of transcatheter aortic valve replacement(TAVR)via the transapical approach,and to clarify the role of echocardiography in assessing the efficacy of the surgery.Methods:The clinical data of 85 patients who received J-Valve prosthetic valves via the transapical TAVR were retrospectively analyzed.The patients were divided into AS group(simple aortic stenosis,n=20),AR group(simple aortic regurgitation,n=37),and AS&AR group(aortic stenosis with regurgitation,n=28).Echocardiographic examination was performed on all the patients before operation,1 week after operation,3 months after operation,and 6 months after operation.The parameters including left ventricular end-diastolic volume(LVEDV),left ventricular end-systolic volume(LVESV),left ventricular ejection fraction(LVEF),left ventricular fractional shortening(LVFS),interventricular septal thickness(IVST),left ventricular posterior wall thickness(LVPWT),aortic valve peak flow velocity(AV Vmax),aortic valve mean transvalvular pressure gradient(AV PGmean),and paravalvular leak(PVL)width were measured to evaluate the cardiac function and the function of the prosthetic valve;the occurrence of postoperative complications of the patients in various groups was also analyzed.Results:J-Valve prosthetic valves were successfully implanted in all 85 patients.There were no significant differences in age,gender,New York Heart Association(NYHA)heart function classification,history of hypertension,history of diabetes,history of hyperlipidemia,and history of coronary artery disease among various groups befor operation(P＞0.05),ensuring comparability.Compared with before operation,1 week after operation,the AV Vmax and AV PGmean of the patients in AS group and AS&AR group were decreased(P＜0.05);there were no significant differences in various parameters of the patients in AR group(P＞0.05).Compared with before operation,3 months after operation,the LVEF and LVFS of the patients in AS group were increased(P＜0.05),while the AV Vmax and AV PGmean were decreased(P＜0.05);the LVEDV and LVESV of the patients in AR group were decreased(P＜0.05),while the LVEF and LVFS were increased(P＜0.05);the LVEDV,LVESV,AV Vmax,and AV PGmean of the patients in AS&AR group were decreased(P＜0.05),while the LVEF and LVFS were increased(P＜0.05).Compared with before operation,LVEDV,LVESV,IVST,and LVPWT of the patients in all three groups 6 months after operation were decreased(P＜0.05),while LVEF and LVFS were increased(P＜0.05);the AV Vmax and AV PGmean of the patients in AS group and AS&AR group were decreased(P＜0.05);the AV PGmean of the patients in AR group was decreased(P＜0.05).The postoperative complications included 3 cases of permanent pacemaker implantation(2 cases in AS group,1 case in AR group),1 case of stroke(in AS group),and 13 cases of PVL(4 cases in AS group,5 cases in AR group,4 cases in AS&AR group).No deaths occurred during follow-up.Conclusion:Echocardiography can accurately and quantitatively evaluate early changes in cardiac function and the functional state of prosthetic valves after transapical TAVR,providing objective evidence for evaluating surgical outcomes and postoperative complications.

Objective:To summarize the long-term efficacy of nicotinamide in treating pediatric early-onset progressive encephalopathy with brain edema and (or) leukoencephalopathy-2 (PEBEL2) caused by NAXD gene variation .Methods:This was a case report conducted from February 2019 to January 2025. The long-term efficacy of nicotinamide was observed by following up a child with PEBEL2 who received the treatment in the Department of Neurology, Beijing Children′s Hospital Affiliated to Capital Medical University. The clinical data included changes in skin lesions, neurological symptoms. The modified Rankin scale (mRS) was used to evaluate the recovery of neurological function.Results:A boy was diagnosed with PEBEL2 caused by NAXD gene variation via genetic testing at Beijing Children′s Hospital Affiliated to Capital Medical University in February 2019, when he was 4 years and 6 months of age. Immediately after diagnosis, nicotinamide treatment was initiated at an initial dose of 100 mg/d, which was increased by 100 mg per week and gradually increased to 500 mg/d; meanwhile, other therapeutic drugs were gradually discontinued. After 1 year and 8 months of treatment, the child′s skin lesions had completely resolved; at the 2-year follow-up, dystonia in both upper limbs and swallowing dysfunction was alleviated significantly; by 2.5-year follow-up, his cognitive function also showed improvement. When the child was treated with 500 mg/d for 3 years, a rash appeared around the mouth. After the dose was reduced to 250 mg/d, the rash resolved, and the dose of 250 mg/d was maintained until the last follow-up. At the last follow-up in January 2025, the child was 10 years and 5 months of age. His mRS score decreased from 5 (before treatment) to 4. During the 6-year of continuous nicotinamide treatment, the child′s condition remained stable without progression. Drug-related skin rashes occurred, but no severe drug-related adverse reactions were observed.Conclusions:PEBEL2 is a treatable mitochondrial disease. Nicotinamide treatment can effectively improve skin lesions and neurological symptoms in PEBEL2 patients, and the long-term administration demonstrates a favorable safety profile.

Objective To observe the changes of quadriceps tendon in type 2 diabetes mellitus(T2DM)patients based on ultrasonic elastography.Methods Data of 80 T2DM patients(T2DM group)and 80 healthy subjects(control group)were retrospectively analyzed.The general information and ultrasound elastography parameters,including strain ratio(SR)of the ratio of the proximal,middle and distal segments of quadriceps tendon and ipsilateral anterior femoral fat pad were compared between groups,while the correlations of the above SR with the disease course of T2DM and glycosylated hemoglobin(HbA1c)were explored.Results Fasting blood glucose and HbA1c in T2DM group were both significantly higher than those in control group(both P＜0.05).Compared with control group,SR of the proximal,middle and distal segments of quadriceps tendon in T2DM group were all significantly higher(all P＜0.05),especially the distal and proximal segments(t=6.01,5.92).In T2DM group,SR of the proximal,middle and distal segments of quadriceps tendon were positively correlated with the disease course of T2DM(r=0.45,0.20,0.43,all P＜0.05)and HbA1c(r=0.44,0.40,0.33,all P＜0.05).Conclusion SR of quadriceps tendon in T2DM patients significantly increased and positively correlated with the course of disease and HbA1c.