Objective:To summarize and analyze the modalities and experience of retrograde distal perfusion with distal perfusion catheter (DPC) via cannulation of the posterior tibial artery in veno-arterial extracorporeal membrane oxygenation(V-A ECMO).Methods:The clinical data of 15 patients who were treated with V-A ECMO and underwent DPC placement via the posterior tibial artery in our hospital from January 2022 to June 2023 were retrospectively analyzed.Results:The V-A ECMO catheterization method in 15 patients was percutaneous puncture catheterization, and all of them underwent surgical incision to indwelling retrograde DPC through the posterior tibial artery: 6 cases of preventive catheterization, 9 cases of remedial catheterization, the success rate of one-time catheterization was 93.33%, and the type of catheter was mainly 6 F sheath (66.67%). There was no ALI in preventive catheterization, and one case of osteofascial compartment syndrome occurred in remedial catheterization, and the catheterization time was (20.73 ± 3.47) min.Conclusions:In V-A ECMO, placement of DPC via the posterior tibial artery for retrograde distal perfusion is perfectly feasible, and has a high success rate, which can prevent or treat lower extremity ischemia.

ObjectiveTo systematically review the efficacy and safety of laparoscopic choledochoscopy combined with holmium laser lithotripsy through a meta－analysis. MethodsThis study was conducted based on PRISMA guidelines， with a PROSPERO registration number of CRD42023406221. Chinese databases including CNKI， Wanfang Data， and VIP and foreign language databases such as PubMed， Embase， the Cochrane Library， and Web of Science were searched for original articles on traditional laparotomy versus laparoscopic choledochoscopy combined with holmium laser lithotripsy in the treatment of bile duct stones. Dichotomous variables were assessed by odds ratio （OR） and 95% confidence interval （CI）， while continuous variables were assessed by weighted mean difference （WMD） and 95%CI， and a sensitivity analysis was performed for outcome measures with relatively high heterogeneity. The Begg test and Egger test were used to evaluate publication bias. Stata 15.0 and Review Manager 5.3 were used to perform the statistical analysis. ResultsA total of 26 retrospective studies from China were included in this study， with 2 238 patients in total. The meta－analysis showed that compared with traditional laparotomy for the treatment of bile duct stones， laparoscopic choledochoscopy combined with holmium laser lithotripsy had significantly shorter time of operation （WMD＝－1.26， 95%CI： －1.36 to －1.16， P<0.001）， length of hospital stay （WMD＝－1.93， 95%CI： －2.64 to －1.12， P <0.001）， and time to bowel function recovery （WMD＝－1.52， 95%CI： －1.68 to －1.35， P<0.001）， significantly less intraoperative blood loss （WMD＝－1.79， 95%CI： －1.93 to －1.66， P<0.001）， a significantly lower rate of intraoperative residual stone （OR＝0.15， 95%CI： 0.11－0.20， P<0.001）， and significantly fewer complications （OR＝0.17， 95%CI： 0.13－0.23， P<0.001）. ConclusionCompared with traditional laparotomy， laparoscopic choledochoscopy combined with holmium laser lithotripsy shows better efficacy in the treatment of bile duct stones.

Objective:To analyze the clinical characteristics and genetic features of SMC1A gene related disorders. Methods:The data of 5 children with SMC1A gene variants were collected from Children′s Hospital of Fudan University from February 2018 to January 2022. The clinical features, electroencephalogram (EEG), brain imaging and gene testing results were summarized. Results:Among the 5 patients, 4 are females and 1 is male. Two female cases are siblings. One boy had dysmorphic features, consisting of bilateral ptosis, synophrys, a short nose and upturned nasal tip. He also had patent foramen ovale plus atrial septal defect, unilateral cryptorchidism and microcephaly. Three cases had microcephaly. Two girls had patent foramen ovale, and 2 girls had microcephaly. Four cases had epilepsy, and age at seizure onset ranged from 2 to 52 months. Multiple seizure types were observed, including bilateral tonic clonic seizures in 2 patients, and focal seizures in 3 patients. The seizures in 3 cases were in cluster. All patients had developmental delay, including 1 patient with mild and 4 patients with moderate to severe developmental delay. Three patients had slow background activity in EEG. Interictal EEG showed abnormal discharges in 4 patients, including focal discharges in 3 cases and generalized discharges in 1 case. Brain magnetic resonance imaging was normal in 3 patients and showed mild cortical thickening in 1 case. All cases harbored 4 SMC1A gene variants, including 2 missense variants and 2 frameshift variants (c.580_587del, c.2699delG, c.3362G>A, c.1486C>T). Three cases harbored heterozygous SMC1A variants and 2 cases carried somatic mosaic SMC1A variants with 17.5% and 88.1% mosaicism in peripheral blood. The follow-up lasted for 3 months to 4 years. The epilepsy was refractory in 2 cases. During the follow-up, all cases had very slow developmental progress or developmental retardation. All cases had different levels of growth retardation. The scores of Cornelia de Lange syndrome (CdLS) phenotypes in 5 cases were 2-6. One case had the combined phenotypes of atypical CdLS and developmental epileptic encephalopathy (DEE). The phenotype was atypical CdLS in 1 case and DEE in 1 case. The phenotypes of 2 cases with SMC1A missense variants were mild, manifesting as non-refractory epilepsy and moderate to severe developmental delay. Conclusions:All of cases with SMC1A gene variants have developmental delay. Most of the patients have clusters of seizures and some dysmorphisms. The phenotypes of SMC1A gene related disorders are diverse. Except CdLS and DEE, there are some patients with mild phenotype due to missense variants of SMC1A gene.

OBJECTIVE: To explore the clinical features and genetic variant in a child with Cerebral creatine deficiency syndrome (CCDS). METHODS: A child who had presented at the Affiliated Children's Hospital of Fudan University on March 5, 2021 was selected as the study subject. Whole exome sequencing (WES) was carried out for the child, and candidate variant was verified by Sanger sequencing. The level of creatine in the brain was determined by magnetic resonance spectroscopy. RESULTS: The patient, a 1-year-and-10-month male, had presented with developmental delay and epilepsy. Both his mother and grandmother had a history of convulsions. MRS showed reduced cerebral creatine in bilateral basal ganglia and thalamus. The child was found to harbor a hemizygous splicing variant of the SLC6A8 gene, namely c.1767+1_1767+2insA, which may lead to protein truncation. The variant was not found in the public databases. Both his mother and grandmother were heterozygous carriers for the same variant. CONCLUSION The hemizygous c.1767+1_1767+2insA variant of the SLC6A8 gene probably underlay the CCDS in this child. Discovery of the novel variant has also expanded the mutational spectrum of the SLC6A8 gene.
Humans ; Male ; Amino Acid Metabolism, Inborn Errors ; Brain ; Creatine/genetics* ; Heterozygote ; Mothers ; Nerve Tissue Proteins ; Plasma Membrane Neurotransmitter Transport Proteins/genetics* ; Infant

Objective:To evaluate the value of serum pepsinogen Ⅰ and Ⅱ combined with gastrin-17 in screening precancerous lesions of gastric cancer in physical examination population.Methods:Serum pepsinogen, gastrin-17 and Helicobacter pylori (Hp) antibody were detected in 18 354 physical examination people from July to December 2017 in Wenrong Hospital, Hengdian, Dongyang. The patients were divided into youth group (18 to 39 years old), middle-aged group (40 to 59 years old) and elderly group (≥60 years old) according to their ages. The correlation between the serological level of the above indexes and age was analyzed; according to the new ABC method, the test results were divided into groups A, B, C and D. The patients in group C and D were examined by gastroscopy. The differences of gastric mucosal atrophy or intestinal metaplasia and other precancerous lesions detected by gastroscopy in different age groups were compared.Results:Finally, 18 354 cases were enrolled, including 9 614 males and 8 740 females. With the increase of age, the proportion of group C and D increased gradually. In group C, 181 cases underwent gastroscopy, including 39 cases of atrophic gastritis, 29 cases of intestinal metaplasia and 3 cases of dysplasia/intraepithelial neoplasia, the detection rate of precancerous lesions was 39.23%; in group D, 94 cases underwent gastroscopy, including 22 cases of atrophic gastritis and 13 cases of intestinal metaplasia, the detection rate of precancerous lesions was 37.23%. The proportion of gastric precancerous lesions in group C and D was 29.63% in the young group, 69.70% in the middle-aged group and 71.58% in the old group, respectively. There was significant difference compared with the young group ( P<0.01); atypical hyperplasia occurred in 2.02% and 9.47% of the middle-aged group and the elderly group. Conclusions:The combined detection of serum pepsinogen Ⅰ and Ⅱ and gastrin-17 levels is of great value in the screening of precancerous lesions of gastric cancer; when this method used for early gastric cancer screening in healthy population, it is necessary to consider the influence of age for the risk stratification of gastric cancer.

ObjectiveIn the context of COVID-19 prevention and control， to summarize the current situation of the public health personnel team development against the pandemic at a county-level center for disease control and prevention （CDC） in Shanghai’s extra-large urban area， to analyze and summarize the current situation and existing problems of the public health personnel team of the district and county-level CDCs， and to propose measures to strengthen and improve the development. MethodsTaking the Shanghai Pudong New Area Center for Disease Control and Prevention， which serves a population of 5.68 millions， as an example， through information access， individual interviews， questionnaires， holding symposiums， etc.， combined with the deployment of personnel in the handling of the COVID-19， we described the Pudong New Area CDC’s talent team characteristics， personnel recruitment and loss， and investigated the factors affecting the construction of talent team. ResultsFrom 2014 to 2020， Pudong CDC recruited 115 people， and 65.71% of them chose to work there. 68 people resigned， with an average of 6.8 people leaving every year， with a fluctuating upward trend in resignation rate （χ²=0.158，P<0.05）. Since we entered the phase of regular COVID-19 prevention and control in 2020， the staff have been overloaded with work， based on the number of hours spent dealing with the pandemic on the spot and the number of people on the job. In 2017 to 2019， the salary of staff was basically maintained at the level of 2016 （average annual growth of about 2.5%）； it lacked targeted talent recruitment （one-time resettlement fee， etc.） and talent retention incentives （monthly housing subsidy for new employees， etc.）. According to the questionnaire’s results， 79.23% of the respondents believed that the talent incentive mechanism needs to be improved， 73.43% believed that a good environment for talent growth needs to be created， and 50.24% thought that the employment mechanism needs to be reformed. It is difficult to meet the needs of pandemic prevention and control under the new situation with the current number of public health personnel， the recruitment of talents is insufficient， the turnover is too high， and there is a gap between the ability of some public health personnel and what is required of them under the new situation and new tasks. ConclusionThe quantity and quality of public health personnel for disease control in Shanghai can hardly meet the needs of pandemic prevention and control under the new situation. The pertinence and systematization of public health talent training urgently need to be strengthened， and the incentive mechanism needs to be improved.

To evaluate the value of endoscopic retrograde cholangiopancreatography(ERCP)and SpyGlass in the diagnosis of intraductal papillary mucinous neoplasm of the bile duct (IPMN-B). Data of patients who underwent ERCP and SpyGlass in Hangzhou First People′s Hospital from January 2016 to December 2019 were analyzed. ERCP and SpyGlass features, complications, clinicopathologic characteristics and prognosis were retrospectively analyzed.A total of 9 patients (5 benign lesions and 4 malignant lesions) were included.ERCP was successfully performed in 9 cases, while SpyGlass was technically successful in 8 cases. Endoscopy showed mucus outflow from the papilla in 5 cases, and the mucus was removed by the balloon of ERCP in 8 cases.ERCP showed bile duct diffuse dilatation and filling defects in all patients. SpyGlass found the mucus in the bile duct in all patients. SpyGlass showed lesion mucosa were fish-egg like without vascular images (Ⅱtype, 3 cases), fish-egg like with vascular images (Ⅲ type, 1 case), villous (Ⅳtype, 4 cases). SpyGlass defined extent of the lesion in 8 cases. SpyGlass found that the lesion involved the intra and extrahepatic bile ducts in one case. Therefore, liver transplantation was recommended to avoid surgical exploration. One type Ⅲ lesion underwent a direct biopsy. The pathology showed moderate dysplasia, which was consistent with the postoperative pathology. No complication occurred. ERCP combined with SpyGlass could clarify the scope of IPMN-B and provide basis for surgical options, which is safe and effective in IPMN-B diagnosis.

Objective:To investigate the expression of MACC1 in Klatskin tumor and the relationship between the clinicopathological features and prognosis and the expression of MACC1.Methods:Immunohistochemistry staining was employed to assess the expression of MACC1 protein in Klatskin tumor tissues and matched adjacent non-tumor bile duct tissues.Quantitative real-time PCR was performed to examine MACC1 mRNA expression in Klatskin tumor tissues and the adjacent non-tumor bile duct tissues and normal bile duct tissues.The correlation between MACC1 expression and the clinicopathological features and prognosis was analyzed.Results:The positive rate of MACC1 in Klatskin tumor tissues was significantly higher than that in matched adjacent non-tumor bile duct tissues(P＜0.05).MACC1 mRNA expression in carcinoma tissues was significantly higher than that in the non-tumor bile duct tissues and normal bile duct tissues(P＜0.05).MACC1 expression in Klatskin tumor tissues was related to tumor size,recurrence and lymphatic metastasis(P＜0.05).Survival analysis indicated that the 1-year,3-year,5-year survival rate were with significantly differences between the two groups (P＜0.05).Conclusion:MACC1 expression was significantly higher in Klatskin tumor and it was related to the tumor size,recurrence and lymphatic metastasis.It would affect the prognosis of patients.

The new revision of Declaration of Helsinki in 2013 has adjusted the structure, added or deleted some provisions on the content and modification, and modificated on the details of some words.Revision of the new version has improved the architecture, perfected the content of the declaration, strengthened the protection of the subjects, increased demand for researchers, and cleared the duty of country, research institutions and bidders.The enlighten-ment to our country are:constantly revised involving human clinical trials of the relevant laws and regulations , to pro-tect rights and interests of the subjects;National obligations for protection of the subjects, clinical trials explore the establishment of national compensation system;Ethics committee responsibilities and clearly positioning, exploring to establish an independent ethical review body.

The research progress on new technologies for high throughput screening of effective traditional Chinese med-icine (TCM) components was summarized based on the recent documents at home and abroad ,among which bio-chromatogra-phy ,chip-technology and computer-aided virtual screen technology were widely used .Compared with traditional screening technology ,those new ones had shown advantages in efficiency ,automation and high-throughput ,providing new ways to screen effective components of TCM with high throughput .