Objective To design and create a C/S-J type of biliary self-releasing stent,and to study its safety and efficacy in preventing post-ERCP complications.Methods 118 patients with common bile duct stones treated in our hospital were enrolled into this study from October 2013 to May 2015.These patients were randomly divided into two groups:the experimental group who underwent ERCP + EST + C/S-J type of self-releasing biliary stent drainage,while the control group underwent ERCP + EST + ENBD.The incidences of post-ERCP acute pancreatitis (PEP) and cholangitis in the two groups and the time the self-releasing stent was dislodged from the biliary system in the experimental group were recorded.Results The incidence of PEP was 6.4％ (5/78) and 7.5％ (3/40) in the experimental and the control group,respectively (P ＞ 0.05).There were no patients who developed postoperative acute cholangitis in the two groups.The stents were dislodged from the biliary system on the first day after the procedure in 2 patients in the experimental group without any complications.One stent failed in self-releasing but was removed successfully with endoscopy 3 months later.In the other 75 patients,the stents were successfully dislodged and were excreted outside the patient's body through the intestinal tract (mean 11.4,range 9 ～ 14) days,without any complications.Conclusion The C/S-J type of biliary self-releasing stents is safe and efficacious in preventing post-ERCP pancreatitis and cholangitis.

In traditional Chinese medicine,Lonicerae Japonicae Flos is commonly used as anti-inflammatory,antiviral,and antipyretic herbal medicine,and geo-authentic herbs are believed to present the highest quality among all samples from different regions.To discuss the current situation and trend of geo-authentic Lonicerae Japonicae Flos,we searched Chinese Biomedicine Literature Database,Chinese Journal Full-text Database,Chinese Scientific Journal Full-text Database,Cochrane Central Register of Controlled Trials,Wanfang,and PubMed.We investigated all studies up to November 2015 pertaining to quality assessment,discrimination,pharmacological effects,planting or processing,or ecological system of geo-authentic Lonicerae Japonicae Flos.Sixty-five studies mainly discussing about chemical fingerprint,component analysis,planting and processing,discrimination between varieties,ecological system,pharmacological effects,and safety were systematically reviewed.By analyzing these studies,we found that the key points of geo-authentic Lonicerae Japonicae Flos research were quality and application.Further studies should focus on improving the quality by selecting the more superior of all varieties and evaluating clinical effectiveness.

OBJECTIVE: To assess the value of non-invasive prenatal testing (NIPT) for the diagnosis of fetal chromosomal aneuploidies among women with advanced gestational age. METHODS: 14 047 pregnant women have voluntarily accepted the NIPT test. The results of NIPT and amniocytic karyotyping analysis were compared, and the outcome of pregnancy was followed up. RESULTS: NIPT has identified 104 cases with a high risk for trisomies 21, 18 and 13, and 44 cases with a high risk for sex chromosome abnormalities. After genetic consultation, 87 of 104 cases have accepted amniocyte chromosomal karyotyping. 63 cases of fetal chromosome abnormality were confirmed, including 46 cases of 21 trisomy, 11 cases of 18 trisomy and 6 cases of 13 trisomy. The positive predictive value was 83.64% (46/55), 61.11% (11/18), and 42.86% (6/14), the specificity was 99.93%, 99.95%, 99.94%, and the sensitivity was 100%. Among the 44 cases, 34 received amniocytic chromosomal karyotyping analysis, 11 cases were confirmed, the positive predictive value was only 32.35%. No aneuploidy was found in the low-risk cases. The negative predictive value was 100%. CONCLUSION As a prenatal screening method for women with advanced gestational age, NIPT has the highest positive predictive value for trisomy 21 and trisomy 18, but a lower positive predictive value for sex chromosome abnormalities. NIPT has a very low rate of missed diagnosis of trisomies 21, 18 and 13, which can significantly reduce the number of women undergoing invasive prenatal diagnosis.

Objective To analyze the application of trans-abdominal chorionic villus sampling in the prenatal diagnosis in the first trimester. Methods A total of 70 patients with single birth and indication of invasive prenatal diagnosis in our hospital from November 2013 to January 2015 were selected. 30 pregnant women in the first trimester was given trans-abdominal chorionic villus sampling (TA-CVS), and 40 pregnant women in the second trimester was given am-niocentesis. Surgery successful rate and pregnancy loss rate were calculated in the two groups. Results In the 30 preg-nant women undergone TA-CVS, chromosome abnormality was detected in 15 cases and induced labor was carried out for all (including 1 case of stillbirth by re-examination 1 week after the surgery of trisomy-21), including 5 cases of trisomy-21, 3 cases of trisomy-13, 5 cases of 45 XO and 2 cases of trisomy-18. The rest of pregnant women with nor-mal testing results of chromosome were traced and observed until delivery. Complications such as placental hematoma, vaginal bleeding and discharge and infants' acromesomelic dysplasia were not seen in the 30 pregnant women. Com-pared with the 40 cases receiving amniocentesis, the surgery successful rate was 100%, and the pregnancy loss rate was 3.33%, and the difference was not statistically significant (P>0.05). Conclusion Amniocentesis should be performed in 18 weeks. Therefore, TA-CVS is able to detect the problem in early stage, so as to alleviate pregnant women's emo-tional and mental pressure. TA-CVS in the first trimester is an early, safe, accurate and reliable invasive technology for prenatal diagnosis. Successful surgery in real practice depends on various aspects.

This paper systematically summarized the core problems in the field of medical and health services and did the root analysis.It is concluded that the current domestic and international related medical service modes deviated from the essence of health services and led to difficulties in the idea and method,bringing people to new problems and new crises.KY3H health care service model,set innovative ideas,innovative technical methods,innovative products,innovative processes,standards and standards into one,by providing a full range and the whole cycle of people-oriented,self-help,"diagnosis and treatment of security" integration of health careservice,improve people's health status,fundamentally change the traditional passive "seeking medical treatment" service mode,to active "seeking one's own" health service mode,so as to achieve "health status continues to rise,the medical costs continue to decline,"which is the social development aims.The paper systematically analyzes the idea,operational logic,goal,mode structure,characteristics of the model,and its significance to individuals,industries,society,countries and even the international community in order to make a positive contribution to the healthy development strategy in China and provide a Chinese case for global Health.

Objective To explore the clinical value of laparoscopic ventral rectopexy for rectal prolapse.Methods From Jan 2013 to Jan 2017,26 patients with complete rectal prolapse were divided into control group (15 patients) undergoing laparoscopic rectal fixation,and 11 patients in study group were treated with rectal ventral fixation.Results There was no significant difference in operation time,bleeding volume and exhaust time between the two groups (t =1.839,0.138,0.932,all P ＞ 0.05).In the study group,2 cases had temporarily postoperative fever.Following up for 12 to 36 months,1 case recurred in the control group and 1 case in the study group.The length of rectal prolapse was about 2 cm.Of the 7 patients with constipation in the control group,symptoms disappeared in 2 cases,symptoms improved in another 2 cases,and 5 cases had new constipation.Of the 4 patients with anal incontinence,2 cases had recovered and 1 case had symptoms improved.Among the 6 patients with constipation in the study group,symptoms disappeared in 3 cases,symptoms improved in 2 cases.Of the 3 patients with pelvic prolapse,2 cases recovered and 1 case improved.The pelvic prolapse and constipation in the study group was less severe than that in the control group (x2 =4.909,P ＜ 0.05).Conclusion Laparoscopic rectal ventral fixation for the treatment of complete rectal prolapse is less traumatic,safor and more effective.

OBJECTIVE: To delineate the clinical and genetic features of a fetus with micrognathia, low-set ears, microtia, polyhydramnios and anechoic stomach by ultrasonography. METHODS: Whole exome sequencing (WES) was carried out to detect genetic variant in the fetus, for which routine chromosomal karyotyping and chromosomal microarray analysis (CMA) yielded no positive finding. Candidate variants were verified by Sanger sequencing and bioinformatic analysis. RESULTS: WES revealed that the fetus has carried a de novo nonsense c.2302C>T (p.Q768X) variant in exon 23 of the EFTUD2 gene, which was detected in neither parent. The variant was unreported previously and may lead to premature termination of the translation of EFTUD2 protein at the 768th amino acid. Bioinformatic analysis predicted the amino acid to be highly conserved and may alter the structure and function of the EFTUD2 protein. CONCLUSION The c.2302C>T variant of the EFTUD2 gene probably underlay the mandibulofacial dysostosis Guion-Almeida type in the fetus. Discovery of the novel variant has enriched variant spectrum of the EFTUD2 gene and provided a basis for genetic counseling and prenatal diagnosis for the family.
Female ; Fetus ; Humans ; Mandibulofacial Dysostosis/genetics* ; Mutation ; Peptide Elongation Factors/genetics* ; Phenotype ; Pregnancy ; Ribonucleoprotein, U5 Small Nuclear/genetics*

OBJECTIVE: To explore the genetic etiology of a Chinese pedigree featuring non-simplex blepharocheilodontic syndrome. METHODS: Whole exome sequencing was carried out to detect genetic variant and copy number variations (CNVs) in the pedigree. Suspected variants were verified by Sanger sequencing and qPCR. RESULTS: The fetus and its elder brother, father and grandfather were found to harbor a heterozygous c.83delG (p.A29Rfs*55) variant of the CTNND1 gene, which was unreported previously. In addition, its elder brother was also found to be a double heterozygote for a c.235delC (p.L79Cfs*3) variant of GJB2 gene and a c.538C>T (p.R180X) variant of GJB3 gene, which were respectively inherited from his mother and father. CNVs analysis revealed a de novo heterozygotic deletion (1.46 Mb) at 17q12 in the mother, which was confirmed by qPCR. Based on American College of Medical Genetics and Genomics guidelines, the c.83delG variant, the c.235delC variant and the 17q12 microdeletion were predicted as pathogenic, while the c.538C>T variant was of uncertain significance. CONCLUSION The c.83delG (p.A29Rfs*55) variant of the CTNND1 gene probably underlay the pathogenesis of non-simplex blepharocheilodontic syndrome in this pedigree. The double heterozygous variants of c.235delC (p.L79Cfs*3) of GJB2 gene and c.538C>T (p.R180X) of GJB3 gene probably underlay the hearing loss in the elder brother. The bilateral renal cysts in the mother may be attributed to the 17q12 microdeletion. Above results have provided guidance for genetic counseling and prenatal diagnosis for this pedigree.
Male ; Pregnancy ; Female ; Humans ; Aged ; Pedigree ; Mutation ; DNA Copy Number Variations ; East Asian People ; China

Objective:To investigate the application value of peri-gastric devasculariza-tion without dissociation of esophagus for portal hypertension.Methods:The retrospective and descriptive study was conducted. The clinical data of 94 patients with portal hypertension who were admitted to three medical centers, including 75 cases in the People′s Hospital of Ningxia Hui Autonomous Region, 12 cases in the People′s Hospital of Wuhai and 7 cases in the People′s Hospital of Wuzhong, from July 2018 to December 2022 were collected. There were 68 males and 26 females, aged 46(range, 21-70)years. All 94 patients underwent peri-gastric devascularization without dissociation of esophagus. Observation indicators: (1) intraoperative condition; (2) postoperative complications; (3) follow-up. Measurement data with normal distribution were represented as Mean± SD, and measure-ment data with skewed distribution were represented as M(range). Count data were described as absolute numbers, and comparison between groups was conducted using the chi-square test or Fisher exact probability. Results:(1) Intraoperative condition. All 94 patients underwent surgery success-fully without operation death, including 82 cases receiving open surgery and 12 cases receiving laparoscopic surgery. The operation time and volume of intraoperative blood loss were (183±85)minutes and 289(range, 158-560)mL, respectively, for the 94 patients. (2) Postoperative complications. Of 94 patients, early portal vein thrombosis occurred in 24 cases, intra-abdominal infection occurred in 2 cases, hepatic encephalopathy occurred in 1 case, pulmonary embolism occurred in 1 case, intra-abdominal hemorrhage requiring operation to stop bleeding occurred in 1 case and pleural effusion requiring drainage occurred in 1 case. All patients with postoperative complications were cured after treatment. None of the 94 patient had postoperative esophageal complications such as odynophagia or dysphagia. (3) Follow-up. All 94 patients were followed up for 38(range, 6-60)months. Of the 45 patients with paraesophageal vein, there were 36 cases of thinner and 9 cases of occlusion of the distal subphrenic paraesophageal vein after surgery, respectively. Cases with esophageal varices disappearance, cases with mild and moderate residual of esophageal varices, cases with severe residual of esophageal varices, cases with recurrence of esophageal varices, cases with esophageal varices bleeding were 7, 70, 9, 4, 4 in the 94 patients after surgery. Cases with esophageal varices disappearance was 7 in the 45 patients with paraesophageal vein, versus 0 in the 49 patients without paraesophageal vein, showing a significant difference between them ( P<0.05). Of 94 patients, 17 cases developed postoperative late portal vein thrombosis and cavernous transformation, 7 cases developed liver cancer, 1 case had hepatic encephalopathy, and 6 cases died. Conclusion:Peri-gastric devascularization without dissociation of esophagus is safe and feasible for the treatment of portal hypertension.

Objective:To explore the genetic etiology of a child with Cowden syndrome 1 (CS1).Methods:A child who had visited the Ningbo Women and Children's Hospital on August 26, 2022 was selected as the study subject. Clinical information of the child was collected. Genomic DNA was extracted from peripheral blood samples of the child and his family members and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Results:The child, a 13-year-old boy, had manifested with severe mental retardation, hyperactivity, autistic behavior, sparse and prominent teeth, macrocephaly, and skin freckles on the penis. His mother had presented with multiple papules, hamartomatous polyps, thyroid adenoma and macrocephaly. WES results revealed that the child has harbored a nonsense c. 781C>T (p.Q261*) variant of the PTEN gene, which was inherited from his mother. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.781C>T variant was classified as likely pathogenic (PVS1+ PM2_Supporting). Conclusion:The c. 781C>T variant of the PTEN gene probably underlay the pathogenesis in the child and his mother. Above finding has facilitated genetic counseling for this family.