Background::Intrauterine valvuloplasty is an innovative therapy, which promotes ventricular growth and function in some congenital heart diseases (CHDs). The technique remains challenging and can only be performed in a few centers. This study aimed to assess the feasibility and mid-term outcomes of fetal cardiac intervention (FCI) in fetuses with critical CHD in an experienced tertiary center.Methods::Five fetal aortic valvuloplasty (FAV) or fetal pulmonary valvuloplasty (FPV) procedures were performed in our fetal heart center between August 2018 and May 2022. Technical success was defined as crossing the aortic or pulmonary valve and balloon inflation, followed by evidence of increased blood flow across the valve and/or new regurgitation. Follow-up clinical records and echocardiography were obtained during the prenatal and postnatal periods.Results::Five fetuses received FAV or FPV, including critical aortic stenosis ( n = 2) and pulmonary atresia with intact ventricular septum ( n = 3). The mean maternal age was 33.0 ± 2.6 years. The median gestational age (GA) at diagnosis was 24 weeks (range, 22-26 weeks). The median GA at intervention was 29 weeks (range, 28-32 weeks). All five cases underwent successful or partially successful procedures. One patient had pulmonary valve perforation without balloon dilation. No procedure-related deaths or significant complications occurred. However, one neonatal death occurred due to heart and renal failure. The median follow-up period was 29.5 months (range, 8.0-48.0 months). The four surviving patients had achieved biventricular circulation, exhibited improved valve, and ventricular development at the last follow-up visit. Conclusion::Intrauterine FCI could be performed safely with good prognosis in critical CHD.

Objective:To investigate the clinical value of early gastroscopy for patients with hypopharyngeal cancer.Methods:A total of 231 cases of hypopharyngeal cancer diagnosed and treated in the First Affiliated Hospital of Xiamen University from January 2010 to December 2014 were included in the retrospective analysis. The 5-year survival rate of hypopharyngeal cancer and patients accompanied with synchronous esophageal cancer (including early and advanced esophageal cancer), as well as the detection rate of synchronous esophageal cancer by gastroscopy and systemic PET-CT examination were statistically analyzed.Results:The 5-year survival rate of hypopharyngeal cancer was 38.96% (90/231). The 5-year survival rates of 62 patients accompanied with synchronous esophageal cancer and 169 patients without were 27.42% (17/62) and 43.20% (73/169), respectively, with statistic difference ( χ2=4.747, P=0.029). The 5-year survival rate of 49 patients accompanied with synchronous early esophageal cancer was 30.69% (17/49). Among the 13 patients with synchronous progressive esophageal cancer, none had a survival period of 5 years, which was significantly different compared with the patients with synchronous early esophageal cancer ( P=0.013). The detection rates of synchronous esophageal carcinoma by gastroscopy and by systemic PET-CT were 26.84% (62/231) and 14.29% (33/231), respectively, with statistic difference ( χ2=11.14, P<0.01). The detection rates of synchronous early esophageal carcinoma by gastroscopy and by systemic PET-CT were 21.21% (49/231) and 8.66% (20/231), respectively, and the difference was also statistically significant ( χ2=14.328, P<0.01). Conclusion:Hypopharyngeal cancer accompanied with synchronous esophageal cancer is of high risk, which affects the survival rate of patients. Early gastroscopy in hypopharyngeal cancer patients can significantly improve the detection rate of synchronous esophageal cancer, which helps to design individualized regimen to improve the survival rate of patients.

Objective To investigate the occurrence of maternal stress under the epidemic, and analyze its relevant factors, to provide a reference for improving pregnancy quality and psychological counseling services during pregnancy. Methods From April to July 2020, 293 pregnant women from maternity and childcare hospital in Wuhan and Huanggang were selected as the subjects of the cross-sectional survey. Results The average score of the PSS pressure scale for pregnant women was (17.75±6.07), among which no/mild, moderate and severe stress accounted for 22.8%, 63.1% and 14.1%, respectively. According to multiple linear regression analysis, the factors affecting the maternal stress level of pregnant women are poor psychological resilience (β=-0.206, 95% CI: -0.288~-0.124), low family income (β=-0.370, 95% CI: -0.729~-0.012), excessively fearful about their babies (β=1.775, 95% CI: 0.640~2.910) and themselves (β=1.695, 95% CI: 0.625~2.766) about infected with the new virus. Conclusion The present study explores the factors related to maternal stress and depression during the epidemic. For pregnant women with high psychological stress, it is recommended that medical staff and family members should take care of them in a timely manner, strengthen their social support, and provide psychological counseling positively in order to improve pregnant women's psychological mood and promote maternal and infant health.

Objective:To investigate the clinical characteristics and perinatal outcomes of pregnancy with placental cystic lesions.Methods:A retrospective study was carried out on 48 pregnant women diagnosed as pregnancy complicated with placental cystic lesions from January 2000 to January 2020 at the Women′s Hospital, Zhejiang University School of Medicine. The clinical features, pathological diagnosis and perinatal outcome were analyzed.Results:The age of 48 cases was (30±5) years, and the diagnostic gestational week of ultrasound was (24±8) weeks. Twenty-five cases in which showed a cystic mass at the fetal surface were diagnosed as placental cyst. The live birth rate was 100% (25/25) and the premature birth rate was 20% (5/25). Twenty-three cases showed “honeycomb like” cystic echo. Cystic lesions of 10 cases were located in the uterine cavity connected with the margin of the normal placenta, and finally diagnosed as hydatidiform mole and coexisting fetus (HMCF). Six cases of HMCF terminated pregnancy, and the live birth rate was 4/10, the premature delivery rate was 2/4. Cystic lesions of 13 cases were located in the placenta substance, and finally diagnosed as 4 cases of placental mesenchymal dysplasia (PMD) and 9 cases of focal chorionic edema; the live birth rate was 6/13 and the premature delivery rate was 4/6. The median hCG was lower in focal chorionic edema group [80 kU/L (60-110 kU/L)] than in the groups of HMCF [240 kU/L (180-430 kU/L)] and PMD [360 kU/L (210-700 kU/L)], and the differences were statistically significant (all P<0.01). Conclusions:For pregnancy complicated with placental cystic lesions, prenatal ultrasound should be performed to evaluate the shape, location and blood flow of the lesions. Maternal serological examination and invasive prenatal diagnosis are helpful for prenatal diagnosis and treatment. Due to the difference of perinatal outcomes, maternal and fetal complications, individualized pregnancy management should be carried out.

OBJECTIVE: To carry out prenatal diagnosis for a fetus with Pallister-killian syndrome (PKS). METHODS: The fetus was found to have limb malformations at 23rd gestational week. With informed consent from its parents, amniotic fluid sample was taken from the fetus and subjected to chromosomal karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) assay. RESULTS: G-banding analysis suggested the fetus has a mos47,XY,+mar[55]/46,XY[10] karyotype. CMA analysis of the cultured amniocytes with CytoScan 750K microarray revealed a segmental tetrasomy duplication of 12p13.33p11.1. FISH confirmed a 70% mosaicism of tetrasomy 12p in the metaphase amniocytes with 12pter/12qter probes. CONCLUSION Combined use of G-banding karyotyping, CMA and FISH analysis has enabled diagnosis of PKS in the fetus. Although short limb is a common feature of PKS, unequal femur length has not been reported previously, which has expanded the spectrum of PKS-associated limb abnormalities.
Chromosome Disorders/genetics* ; Chromosomes, Human, Pair 12/genetics* ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Mosaicism ; Pregnancy ; Prenatal Diagnosis

Objective:To study the efficacy of dental floss traction-assisted endoscopic submucosal dissection (ESD) for gastric angle mucosal lesions.Methods:Data of 127 patients with gastric angle mucosal lesions admitted to the endoscopic center of the First Affiliated Hospital of Xiamen University from January 2015 to December 2018 were retrospectively analyzed. According to the surgical methods, patients were divided into the dental floss traction-assisted ESD group (the traction group, n=51) and the traditional ESD group (the traditional group, n=76). The 41 fibrosis cases were further divided into the traction group (n=23) and the traditional group (n=18). The operation time, en block resection rate, curative resection rate and the incidence of adverse events such as bleeding, muscle layer injury and perforation were compared between the two groups.Results:There was no significant difference in age, sex, lesion size or morphology between the traction group and the traditional group ( P > 0.05). The operation time of the traction group was significantly shorter than that of the traditional group (65.4±36.5 min VS 103.5±43.2 min, P=0.012). The en block resection rate was higher in the traction group [100.00% (51/51) VS 90.79% (69/76), P=0.026], and the curative resection rate was higher too [94.12% (48/51) VS 81.58% (62/76), P=0.042]. The incidences of muscular layer damage [5.88% (3/51) VS 25.00% (19/76), P=0.010] and intraoperative bleeding [47.06% (24/51)VS 82.89% (63/76), P=0.010] were lower in the traction group. Perforation occurred in two patients (2.63%) of fibrosis in the traditional group; no perforation occurred in the traction group. There was no significant difference in the perforation incidence ( P=0.243). In the cases of fibrosis, the operation time of the traction group was significantly shorter compared with that of the traditional group (81.4±29.3 min VS 119.3±37.6 min, P=0.010). The en block resection rate and curative resection rate were also higher in the traction group [100.00% (23/23) VS 72.22% (13/18), P=0.007; 95.65% (22/23) VS 72.22% (13/18), P=0.035]. The incidences of muscular layer damage [8.70% (2/23) VS 72.22% (13/18), P=0.001] and intraoperative bleeding [78.26% (18/23) VS 100.00% (18/18), P=0.035] were lower in the traction group. Conclusion:The dental floss traction-assisted ESD is safe and effective for gastric angle mucosal lesions and fibrotic lesions, with shorter operation time, higher curative resection rate and lower incidence of adverse events.

OBJECTIVE: To analyze the phenotype and genetic basis for a pedigree affected with hereditary coagulation factor XI deficiency. METHODS: Activated partial thromboplastin time (APTT), prothrombin time (PT), fibrinogen (FIB), FXI activity (FXI:C) and the antigen of FXI (FXI:Ag) were determined for the proband and members from his pedigree. Sanger sequencing was used to analyze all exons, exon-intronic boundaries, as well as the 5'- and 3'- untranslated regions of the F11 gene. Suspected variants were verified in her family members and confirmed by reverse sequencing. The impact of the variants on the protein function was predicted by using PolyPhen-2 and SIFT software. The protein structure and amino acid interaction were analyzed by using Swiss-PdbViewer. RESULTS: The APTT, FXI:C and FXI:Ag of the proband and her sister were significantly reduced to 73.0 s, 10.0%, 15.0% and 87.1 s, 2.0% and 11.5%, respectively. APTT of some family members was slightly prolonged, and FXI:C and FXI:Ag also decreased to various extents. DNA sequencing revealed that the proband and her sister have carried compound heterozygous variants of c.738G>A (p.Trp228stop) and c.938G>T (p.Ser295Ile) respectively in exons 7 and 9 of the F11 gene. Her father, sister and daughter were heterozygous for the c.738G>A (p.Trp228stop) variant, while her mother and nephew were heterozygous for the c.938G>T (p.Ser295Ile). Both PolyPhen-2 and SIFT predicted that the p.Ser295Ile variant is likely to be deleterious and can affect the protein function. Modeling analysis indicated that the p.Ser295Ile variant may lead to disruption of a hydrogen bond, resulting in alteration of protein structure and instability. CONCLUSION The compound heterozygous c.738G>A (p.Trp228stop) and c.938G>T (p.Ser295Ile) variants of the F11 gene probably underlie the decreased FXI level in this pedigree.
Factor XI Deficiency ; genetics ; Female ; Genetic Variation ; Heterozygote ; Humans ; Mutation ; Pedigree

Objective: To investigate the clinical value of gallbladder-preserving cholelithotomy by natural orifice transumbilical endoscopic surgery on patients with cholecystolithiasis. Methods: A retrospective study was performed on data of 15 patients with cholecystolithiasis, who underwent gallbladder-preserving cholelithotomy by natural orifice transumbilical endoscopic surgery from April 2018 to July 2018. The operative data, including situation of operation, operative time, intraoperative hemorrhage, and postoperative complications were recorded. Results: The procedure was performed successfully in all patients with a mean operative time of 108±12 min (ranged from 92-129 min). The intraoperative hemorrhage was 10-30 mL. Eight patients suffered from slight right upper abdominal pain, and 7 patients felt slight pain in umbilical a week after surgery. No fever, incision infection, umbilical hemia, peritonitis, and ascites were reported. The clear-liquid diet was recommended for one day after operation, and postoperative activity was allowed since the second day after operation. All patients were discharged on the fourth or fifth day, and all recovered to their normal life at one week after discharge. Follow-up showed that the scar was small and hidden in umbilical without visible incision after one month. Ultrasonic examination results showed that gallbladder contractile function worked perfectly in four patients and no gallbladder stone was found after three months. Conclusion Gallbladder-preserving cholelithotomy by natural orifice transumbilical endoscopic surgery is a safe and effective option for patients with cholecystolithiasis, provides excellent cosmetic outcomes, and can be appropriately carried out under the strict control of surgical indications.

Objective To investigate the clinical features, diagnosis and treatments of heterotopic pregnancy(HP)and demonstrate the outcomes of HP after the surgical treatment of ectopic pregnancies. Methods A retrospective analysis was performed on 144 cases of HP in Women′s Hospital, School of Medicine, Zhejiang University from January 2003 to December 2016. Results (1)Clinical features of HP:the average age of patients was(30.8±3.8)years old, body mass index(BMI)was(21.9±2.9)kg/m2, and was diagnosed at(6.5±1.3)weeks gestational age. Four patients(2.8%)were naturally pregnant, 10 patients (6.9%)received ovulation induction, and 130 patients(90.3%)had received infertility treatments. Fifty-one patients(35.4%)had no clinical symptoms, and 93 patients(64.6%)had clinical symptoms included vaginal hemorrhage, abdominal pain and hemorrhagic shock caused by intraperitoneal hemorrhage. The location of ectopic pregnancy was most common in the fallopian tubes(59.0%, 85/144)and the interstitial part (33.3%, 48/144). (2)Ectopic pregnancy treatment of HP: thirteen patients underwent expectation treatment, and the remaining 131 cases underwent surgical treatment, including laparoscopy(n=56), laprotomy(n=52), and fetal reduction (n=23). Among the 131 patients underwent surgery, intrauterine pregnancy were found inevitable abortion in 6 cases preoperatively. The total early abortion rate after surgery was 14.4%(18/125); the second operation rate was 3.1%(4/131).(3)Intrauterine pregnancy outcome of HP:120 intrauterine fetal were survival, the total live birth rate was 83.3%(120/144).One hundred and seven intrauterine fetal were survival after operation and the live birth rate after operation was 85.6%(107/125). Twenty-nine cases were premature delivery and the premature delivery rate was 24.2%(29/120). There was no significant differences between tubal HP and interstitial HP group in the preterm birth rate [25.8%(16/62) vs 26.3% (10/38); χ2=0.003, P>0.05]. Cesarean section rate of delivery in interstitial HP group was significantly higher than that in tubal HP group [97.4%(37/38)vs 59.7%(37/62)], and the difference was statistically significant(χ2=17.400, P<0.05). Conclusions The clinical manifestations of HP are diversified, combining of high risk factors, clinical symptoms and ultrasonography could improve the accuracy of diagnosis. Different method has been used to treat HP, such as laparoscopic or laparotomy and fetal reduction, and there are varying degrees of failure rate and postoperative abortion rate. We should consider carefully to adopt expectant management. Through individualized treatment, most HP could get good perinatal outcomes.

Objective To determine postoperative resting energy expenditure ( REE) in children with congenital heart disease ( CHD) requiring open heart surgery , to compare measured resting energy expenditure (MREE) with current predictive equations (PEE), and to investigate the possible influencing factors on the metabolic status of the postoperative CHD children .Methods From February 2015 to June 2015 , 150 ventila-ted children admitted to the cardiac intensive care unit after surgery for congenital heart disease in Shanghai Children's Medical Center were enrolled consecutively .Indirect calorimetry ( IC) measurements were performed using metabolic cart 4 hours after surgery .General clinical data were recorded .Results Totally 104 male and 46 female patients were enrolled, with a median age of 14 months (8.3-36.0 months).The non-protein re-spiratory quotient of patient was 0.79 ±0.20, MREE was (264.76 ±61.74) kJ/(kg· d), and PEE using Schofield equations was (278.51 ±93.42) kJ/(kg· d).Although there was no significant differences (P=0.096 ) between MREE and PEE , the agreement was poor between them ( R2 =0.119 ) .Multivariate stepwise regression analysis showed that MREE had significant positive correlation with risk adjustment in congenital heart surgery (RACHS-1) score (P=0.012) and negative correlation with age (P=0.010).Up to 97.33%of children (146/150) had lower energy intake compared with MREE on the 1st postoperative day .Conclu-sions MREE does not increase after surgery in CHD children;however , the substrate utilization is influenced . Factors influencing the postoperative REE include RACHS-1 score and age.The energy intake at 1st day after surgery is generally lower than REE in these children .