OBJECTIVE: To carry out cyto- and molecular genetic analysis for a fetus with a ring chromosome identified through non-invasive prenatal testing (NIPT). METHODS: A pregnant woman presented at the Shengjing Hospital Affiliated to China Medical University on May 11, 2021 was selected as the study subject. Maternal peripheral blood sample was screened by NIPT, and G-banded chromosomal karyotyping was carried out on amniotic fluid and peripheral blood samples from the couple. The fetus and the pregnant woman were also subjected to genomic copy number variation sequencing (CNV-seq), chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH) assay. RESULTS: NIPT result suggested that the fetus had monomeric mosaicism or fragment deletion on chromosome 13. G banded chromosomal analysis showed that both the fetus and its mother had a karyotype of 47,XX,der(13)(pter→p11::q22→q10),+r(13)(::p10::q22→qter::), whilst her husband had a normal karyotype. FISH has verified the above results. No abnormality was detected with CNV-seq and CMA in both the fetus and the pregnant woman. CONCLUSION The ring chromosome 13 in the fetus has derived from its mother without any deletion, duplication and mosaicism. Both the fetus and the pregnant woman were phenotypically normal.
Humans ; Pregnancy ; Female ; Ring Chromosomes ; Chromosomes, Human, Pair 13/genetics* ; In Situ Hybridization, Fluorescence ; DNA Copy Number Variations ; Prenatal Diagnosis/methods* ; Amniotic Fluid

Background::Circular RNAs (circRNAs) are endogenous non-coding RNAs, some of which have pathological roles. The current study aimed to explore the role of circRNA BTG3-associated nuclear protein (circ-BANP) binding with let-7f-5p and its regulation of the toll-like receptor 4 (TLR4)/signal transducer and activator of transcription 3 (STAT3) signaling pathway in residual hepatocellular carcinoma (HCC) after insufficient radiofrequency ablation (RFA).Methods::Circ-BANP, let-7f-5p, and TLR4 expressions in HCC samples were assessed using reverse transcription-quantitative polymerase chain reaction (RT-qPCR) and Western blotting. Bioinformatics prediction, RNA pull-down assay, and dual luciferase reporter gene assay were used to analyze the relationships among circ-BANP, let-7f-5p, and TLR4. Huh7 cells were used to generate an in vitro model of residual HCC, defined as Huh7-H cells, which were transfected with either a plasmid or the sequence of circ-BANP, let-7f-5p, or TLR4. Expression of circ-BANP, let-7f-5p, and TLR4 mRNA was determined by RT-qPCR. TLR4, STAT3, p-STAT3, vascular endothelial growth factor A, vascular endothelial growth factor receptor-2, and epithelial-mesenchymal transformation (EMT)-related factors proteins were determined by Western blotting. Cell proliferation was determined by cell counting kit-8 and 5-Ethynyl-2’-deoxyuridine (EdU) assay and cell migration and invasion by Transwell assay. Animal studies were performed by inducing xenograft tumors in nude mice. Results::Circ-BANP and TLR4 mRNAs were upregulated in HCC tissues (the fold change for circ-BANP was 1.958 and that for TLR4 was 1.736 relative to para-tumors) and expression further increased following insufficient RFA (fold change for circ-BANP was 2.407 and that of TLR4 was 2.224 relative to para-tumors). Expression of let-7f-5p showed an opposite tendency (fold change for let-7f-5p in HCC tissues was 0.491 and that in tumors after insufficient RFA was 0.300 relative to para-tumors). Competitive binding of circ-BANP to let-7f-5p was demonstrated and TLR4 was identified as a target of let-7f-5p (P < 0.01). Knockdown of circ-BANP or elevation of let-7f-5p expression inhibited the TLR4/STAT3 signaling pathway, proliferation, invasion, migration, angiogenesis, and EMT in Huh7 and Huh7-H cells ( P < 0.01). The effects induced by circ-BANP knockdown were reversed by let-7f-5p inhibition. Overexpression of TLR4 reversed the impact of let-7f-5p upregulation on the cells ( P < 0.01). Silencing of circ-BANP inhibited the in vivo growth of residual HCC cells after insufficient RFA ( P < 0.01). Conclusions::Knockdown of circ-BANP upregulated let-7f-5p to inhibit proliferation, migration, and EMT formation in residual HCC remaining after insufficient RFA. Effects occur via regulation of the TLR4/STAT3 signaling pathway.

The clinical application of immune checkpoint inhibitors (ICIs) has significantly improved the prognosis of hepatocellular carcinoma (HCC) patients. With the widespread applica-tion of ICIs in HCC, the management of immune-related adverse events (irAE) gained more and more attention. However, the complicated disease characteristics and various combination therapies in HCC throw out challenges to irAE management. Therefore, the editorial board of the 'Chinese expert consensus on the management of immune-related adverse events of hepatocellular carcinoma treated with immune checkpoint inhibitors (2021 edition)' organizes multidisciplinary experts to discuss and formulate this consensus. The consensus focuses on issues related to HCC irAE manage-ment, and puts forward suggestions, in order to improve standardized and safety clinical medication, so as to maximize the benefits of immunotherapy for patients.

Objective:To explore the risk factors influencing the prognosis for patients with hepatocellular carcinoma (HCC) recurrence after liver transplantation and summarize the relevant diagnostic and therapeutic experiences.Methods:The clinicopathological features with diagnosis and treatment plan of 102 recurrent HCC patients fulfilling the Fudan Criteria were compared for survival rate (univariate analysis) and independent prognostic indicators were obtained by Cox multivariate analysis.Results:The 1/3/5-year overall survival rates were 92.2%, 48.6% and 34.6% and the 1/3/5-year survival rates with tumor were 63.2%, 31.0% and 16.7% respectively. Cox regression analysis indicated that patient age, whether tumor can be surgically resected or not and personalized diagnostic & therapeutic plan based upon targeted therapy were independent prognostic factors affecting the overall survival rates and survival rates with tumor.Conclusions:Although HCC recurrence and metastasis after liver transplantation seriously influence patient prognosis, satisfactory outcomes may be obtained for some patients through active, effective and precise managements.

Objective To investigate the prevalence and epidemiological characteristics of enuresis in children aged 5-13 years old in Jinshan District, Shanghai, and analyze the relevant pathogenic factors, so as to provide a reference for clinical prevention and treatment of enuresis in children and related psychological diseases. Methods Using the medical history collection table (CMT checklist) of ICCS (International Association for Urinary Control of Children) as a guidance, a random cluster sampling was performed on 1 000 preschool and school-age children from 9 representative schools with a relatively concentrated population in Jinshan District. Results Excluding the missing and invalid questionnaires, a total of 785 cases were included in the study, and the total prevalence of enulists in 5-13 children was 7.77% (61 cases), among which 42 cases were 5-7 years old (68.85%), 12 cases were 8-10 years old (19.67%), and 7 cases were 11-13 years old (11.48%). There were statistically significant differences among the age groups (χ²=52.87，P=0.001)). Among the affected children, 3.31% (26 cases) were in urban areas and 4.46% (35 cases) in rural areas (P<0.05). The prevalence of boys (38 cases) and the prevalence of girls (23 cases) were statistically significant (P<0.05). The characteristics of enuresis, organic diseases, and attention were analyzed in 61 children diagnosed with enuresis. Children with enuresis ≥7 times/week were the highest (33 cases), accounting for 54.10%; children with 3-6times/week (19 cases) accounted for 31.15%; 2 times/week (9 cases) accounted for 14.75%. Physical examination abnormalities (including urinary routine abnormalities: urinary tract infection, hematuria, high urinary calcium or phimosis) were found in 18 cases, accounting for 29.51%. Four patients (6.56%) had a family history of enuresis. Fifty-two (85.25%) of the affected children had psychologically related problems: introverted personality, impulsiveness, inferiority, lack of concentration, medium or inferior academic performance. Conclusion The prevalence of enuresis in 5-13 children was 7.77%. There were significant differences between urban and rural areas, different age groups and genders as well. Most sick children developed organic diseases and some degree of psychological problems. A timely diagnosis and treatment of enuresis in children in combination with psychological guidance and behavioral intervention is necessary for the prevention of the occurrence of enuresis related psychological problems.

Objective: To explore the association between screen time and autistic behavior in infants and young children, and to provide clues to the mechanism for further research. Methods: The primary caregivers of 22 586 children in the district of Longhua in Shenzhen were surveyed. Demographic data and screen time were collected using a selfdisigned questionnaire, and children’s autistic behavior was assessed using the child Autism Behavior Checklist(ABC).The chisquare test was used to analyze the correlation between demographic data and screen time, demographic data and autistic behavior, and screen time and autistic behavior. Unconditioned Logistic regression model was used to study the effect of electronic screen exposure on autistic behavior. Results: The amount of screen time spent in infancy increased with age. For children ages 0-,1- and 2-3 years, 60.1%, 35.0% and 20.2% respectively did not watch TV, and 74.0%, 52.6% and 26.8% respectively did not watch the new generation of electronic products. The positive rate of ABC scale screening was 5.3%, including 6.0% male and 4.4% female, OR(95%CI)=1.37 (1.23-1.54).There was correlations between screen time and autistic behavior in infants at all ages (P<0.05).Screen time increased the risk of autistic behavior in younger age groups than in older age groups. For 1 year olds with moderate screen exposure, increased screen exposure at 2 to 3 years of age was associated with an increased risk of autistic behaviors, while reduced screen exposure at 2 to 3 years of age was associated with a lower risk of autistic behaviors(OR=2.14, 2.77, P<0.05). The higher daily screen time at 0-3 years old was, the greater risk of autistic behaviors. Compared with the noncontact electronic screen group, the OR values of the daily TV screens in the ≥1 h/d group and the ＜1 h/d group were 2.01 and 2.45, respectively (P＜0.05).Compared with the non-contact electronic screen group, the OR values of the screens exposed to the new generation of electronic products in the ≥1 h/d group and the ＜1 h/d group were 2.01 and 2.33, respectively(P<0.05).The higher the time of single exposure to electronic screen between 0 and 3 years old, the greater the risk of autistic behaviors. The OR values were 2.50, 1.79 and 1.47 when ≥1 h/time, 0.5-1 h/time and 15-30 min/time compared with <15 min/time（P<0.05）. Conclusion Early exposure to electronic screens in infants, excessive total daily exposure to electronic screens, and excessive screen time each time are all likely to increase autistic behavior. Therefore, it is suggested that children under 2 years old should not be exposed to electronic screens every day. Children aged 2-3 years old who are exposed to electronic screens＜0.5 h/d and whose screen time <15 min might not significantly increase autistic behaviors.

Objective To study the value of radiofrequency ablation of gallbladder beds in radical surgery for stage T1b gallbladder cancer.Methods A retrospective study was conducted on 21 patients with stage T1 b gallbladder cancer treated in the Department of Hepatobiliary Pancreas and Spleen Surgery,West Campus,Beijing Chaoyang Hospital,Capital Medical University,from April 1,2011 to March 31,2019.Patients who were diagnosed with frozen section during operation were included into the surgery group.Patients who were diagnosed postoperatively and underwent radical surgery for the gallbladder carcinoma were included in the secondary surgery group.The differences in surgical time,bleeding volume,survival rate,and survival time between the two groups after regular follow-up were compared,and the 5-year cumulative survival rates and overall survival time of the two groups were calculated.Results All patients underwent radical gallbladder cancer surgery.There were 14 males and 7 females,aged from 26 to 70 (49.0 ± 13.5)years.There were no perioperative deaths.There were 15 patients in the operation group,and 6 patients in the secondary surgery group.The bleeding volume of the surgery group was significantly less than the secondary surgery group [(101.3 ± 35.5) ml vs.(177.0 ± 44.6) ml,P ＜ 0.05].There were no significant differences in surgical time,survival rate,and survival time between the two groups (all P ＞ 0.05).The 5-year cumulative survival rate for the two groups of patients was 56.5％,and the overall survival time was (79.0 ± 9.3) months.Conclusions Radiofrequency ablation of the gallbladder bed was safe and effective in radical surgery of T1 b gallbladder cancer.For T1 b stage gallbladder cancer,which is difficult to diagnose during surgery,secondary radical surgery achieved the same results as primary radical surgery.

Objective To study the clinical impact of microvascular invasion (MVI) on patients with intrahepatic cholangiocarcinoma (ICC) after R0 resections.Methods The clinicopathological data of 359 patients with ICC who underwent R0 resection in the Zhongshan Hospital,Fudan University between January 2000 and December 2008 were retrospectively studied.Univariate analysis and multivariate analysis were carried out to study factors related to postoperative survival outcomes and recurrence.The impact of MVI on patients with ICC after R0 resection was studied.Results The incidence of MVI was 13.6％ in the study cohort.MVI was correlated with HBV infection (P ＜ 0.05),liver cirrhosis (P ＜ 0.05) and tumor differentiation (P ＜ 0.05).The 1-,3-,5-year overall survival (OS) between the MVI positive and negative groups were 50.0％,20.9％,12.2％ and 63.9％,33.1％,22.0％ respectively (P ＜ 0.05),and the median survival time was 13 months and 18.5 months (P ＜0.05).The 1-,3-,5-year recurrence free survival (RFS) rates between the MVI positive and negative groups were 29.7％,12.7％,8.5％ and 50.6％,26.9％,18.4％,respectively (P ＜0.05),and the median recurrence free survival time was 8 months and 12.5 months (P ＜ 0.05).Multivariate analysis showed that MVI was an independent risk factor affecting recurrence after R0 resection (HR 1.852,95％ CI:1.075 ～ 3.195,P ＜ 0.05).Conclusions The occurrence of MVI in ICC patients was associated with hepatitis B infection.MVI was an independent risk factor affecting recurrence in ICC patients after R0 resection.However,it was not an independent risk factor of overall survival in patients after R0 resection.The clinical impact of MVI on patients with ICC was not as strong as for hepatocellular carcinoma.

Objective To investigate the application of 3D printing technique in the treatment of obsolete pelvic and acetabular fractures.Methods The clinical data of 23 patients with obsolete pelvic and acetabular fractures were retrospectively analyzed who had been surgically treated in our hospital from January 2006 through January 2016.3D printing technique was used in surgical planning in 11 of them,including 8 males and 3 females,with an average age of 33.8 ±4.9 years (3D group).The other 12 patients received conventional surgery without using 3D printing technique.They were 9 males and 3 females,with an average age of 34.8 ± 8.3 years (conventional group).The primary pelvic fractures in both groups were all type C according to the Tile classification system.The patients complicated with acetabular fracture in the 3D group and the conventional group were 10 and 11 cases respectively.The operative time,blood loss,blood transfusion.intraoperative fluoroscopy,visual analogue score (VAS) and Majeed score were compared between the 2 groups.Results The 2 groups were compatible in terms of preoperative general data (P ＞ 0.05).For the 3D group and the conventional group,operative time was 166.4± 24.2 min versus 222.5 ± 49.0 min.blood loss 2,063.6 ± 484.3 mL versus 2,700.0 ± 597.0 mL,blood transfusion 13.2 ± 3.2 U versus 17.6 ± 4.5 U,and intraoperative fluoroscopy 7.4 ± 1.3 times versus 11.7 ± 3.6 times.There were significant differences between the 2 groups in the above indexes (P ＜ 0.05).The 3D group and the conventional group obtained an average follow-up of 18.4 months and 21.7 months,respectively.The postoperative VAS scores were respectively 1.8 ±-0.9 points and 3.4 ± 1.0 points for the 2 groups,showing a significant between-group difference (P ＜0.05).The Majeed scores at the last follow-ups were respectively 85.7 ± 4.2 points and 84.9 ± 3.1 points for the 2 groups,showing no significant between-group difference (P ＞ 0.05).There were no such complications in the 3D group as iatrogenic nerve injury,vascular injury,nonunion or internal fixation failure.One patient in the conventional group suffered transient iatrogenic injury to the sciatic nerve.Conclusions 3D printing technique can provide helpful guidance for diagnosis and fracture classification preoperatively.It improves the patient's perioperative safety by benefiting intraoperative reduction,shortening operative time,and reducing intraoperative blood loss and intraoperative fluoroscopy.

OBJECTIVETo study subtype classification of gastric neuroendocrine neoplasm (NEN) and their clinicopathological characteristics in order to provide reference for clinical practice.

METHODSClinicopathological data of 241 gastric NEN patients (174 cases from China-Japan Friendship Hospital and 67 cases from The First Affiliated Hospital of Sun Yat-Sen University) between January 2011 and June 2016 were retrospectively summarized. According to serum gastrin, 24-hour intragastric pH monitoring and pathological grade, patients with gastric NEN were divided into 4 types: type I( (hypergastrinemia and achlorhydria, related to autoimmune chronic atrophic gastritis), type II( [hypergastrinemia and Zollinger-Ellison syndrome, related to gastrinoma or multiple endocrine neoplasia type I( (MEN-I()], type III( (sporadic disease with normal serum gastrin level), and type IIII( [poorly differentiated gastric neuroendocrine carcinoma (NEC) and mixed adenoneuroendocrine carcinoma (MANEC)]. Clinicopathological features, treatment and prognosis of 4 types were analyzed.

RESULTSOf 241 gastric NEN cases, there were 86 cases (35.7%) in type I(, 7 cases (2.9%) in type II(, 61 cases (25.3%) in type III( and 87 cases(36.1%) in type IIII(. Among 86 cases of type I( gastric NEN, 73 cases (84.9%) were multiple lesions,tumor size of 66 cases (76.7%) was less than 1 cm, all the 86 cases were polypoid or granular lesions. 2 cases(2.3%)presented distant metastasis, 69 cases (80.2%) had pathological grading as NET G1; most of them received endoscopic surgery treatment and follow-up; somatostatin analogs(SSA) was used in patients with multiple lesions and repeated recurrence after endoscopic treatment. Among 7 cases of type II(, 4 cases were gastrinoma, 3 cases MEN-I(; 5 cases presented distant metastasis; treatment included surgery, SSA and proton pump inhibitor (PPI) therapy. Among 61 cases of type III( gastric NEN, 49 cases(80.3%) were single lesion,tumor size of 25 cases(41.0%) was more than 2 cm, 29 cases(47.5%) had lymph node metastasis or distant metastasis; treatment included endoscopic resection, surgery or SSA therapy according to the tumor staging. Among 87 patients of type IIII( gastric NEN, 74 cases(85.0%) had single lesion,tumor size of 51 cases (58.6%) was more than 2 cm; lesions were found in gastric cardia in 35 cases (40.2%); 65 cases (74.7%) had lymph node metastasis or distant metastasis; treatment included chemotherapy, or surgery plus chemotherapy. At the end of follow-up(June 30, 2016), 58 patients were dead, including 1 case of type I(, 12 cases of type III( and 45 cases of type IIII(. The overall survival rate of all the patients was 74.2%, and was 98.8%, 100%, 79.3%, 39.2% of types I(, II(, III(, IIII( respectively. The overall survival rate between type III( and type IIII( gastric NEN was significantly different(P = 0.000).

CONCLUSIONSSubtype classification of gastric NEN is very significant for making therapeutic decisions and prognostic evaluation. Patients of type I( or type II( gastric NEN have good prognosis,while those of type III( and type IIII( have poor prognosis, and those of type IIII( have the worst prognosis.

Adult ; China ; Female ; Humans ; Lymphatic Metastasis ; Male ; Neoplasm Recurrence, Local ; Neoplasm Staging ; Neuroendocrine Tumors ; pathology ; therapy ; Prognosis ; Retrospective Studies ; Stomach Neoplasms ; pathology ; therapy ; Survival Rate