Objective To evaluate the differences of α-fetoprotein (AFP), ffeeβ-human chorionic gnnadotropin (HCG) indexes in 3 foreign median databases for antepartum risk screening, and establish the median databases of normal pregnant women in Wenzhou for antepartum screening of AFP, free-β-HCG indexes through the suitable median computational models. Methods The levels of AFP and free β-HCG of 20054 normal pregnant women in Wenzhou were detected by time-resolved fluorometry. The data in this paper were compared with the data of 2T-risk ( 2T), Lifecycle-2. 2 (LC2.2 ) and Lifecycle -3.0 (LC3.0) by double-factor ANOVA. The differences between the data in the paper and the data from Shenyang and Ningbo were analyzed. The median database of Wenzhou pregnant women was established by the suitable regression model, with the stability of nonlinear regression models of the 3 software assessed by model correcting fitting, distribution mean of model fitting logarithmic and standard deviation. Results The levels of AFP and freeβ- hCG reported here were 10% and 16% higher than the data of 2T-risk, 15% and 20% higher than that of LC 2. 2, 6% and 17% higher than that of LC 3.0 respectively. The differences were statistically significant. ( FAFP = 161. 757 ,P < 0. 01 ; Ffree-β-HCG = 58. 261, P < 0.01 ). The levels of AFP and free β- hCG in Wenzhou were 2% higher and 3% lower than that of Shenyang, 1% and 2% higher than that of Ningbo. There was no statistical difference of AFP levels among Wenzhou , Shenyang and Ningbo( FAFP = 0. 174 ,P =0. 840) while the differences of free-β-hCG were statistically significant( F<,free-β-HCG> = 13.303 ,P < 0. 01 ). The differences of quadratic equation regression model, exponent quadratic function regression model and exponent quadru-function regression model of 2T, LC-2. 2 and LC-3.0 were not remarkable. The exponent quadru-function regression model was the best. Conclusions There are significant differences between the data from Wenzhou, Shenyang and Ningbo and the data of T-2 risk, LC-2. 2, LC -3.0. The discrepancy is due to the ethnic and different parameters of regression models. So the model parameters and the median databases are urgently required in China. The differences of large sample size of AFP from Wenzhow, Shengyang and Ningbo are not significant, while the differences of free-β- hCG from Wenzhow, Shengyang and Ningbo is remained because of its instability. The levels from Wenzhow and Ningbo are near. It is suggested that the laboratories with small sample size can establish their own laboratory parameters using the reference obtained from large sample size under the same experimental conditions. There are no significant differences of stability among regression computational models in the 3 software. The exponent quadru-function regression model can be used to establish the median databases for the screening with the similar data distribution in the paper.

Objective:To explore the strategies and complications of the submucosal tunneling endoscopic resection (STER) in the treatment of esophageal duplicated cyst (EDC).Methods:From January 2013 to December 2019, at Department of Gastroenterology, Taizhou Hospital of Zhejiang Province, the clinical data of 11 hospitalized patients with EDC diagnosed by pathological examination who underwent STER were collected. The clinical featured, computed tomography (CT) findings, endoscopic findings, postoperative efficacy, complications and pathological results after operation were summarized.Results:Among the 11 patients, there were 6 males and 5 females, the age ranged from 13 to 67 years, and the mean age was (43.0±18.2) years. One case presented with swallowing obstruction, 1 case with belching, 4 cases with upper abdominal pain, and the remaining 5 cases had no specific clinical symptoms. Under endoscopy, the lesions of 11 patients were hemispherical or mound-shaped with smooth surface submucosal masses in the esophageal cavity, which were soft to touch. Under endoscopic ultrasonography, they all appeared as hypoechoic masses with clear boundary located in the esophageal muscularis propria. The results of CT scan of 9 patients showed round low-density cystic masses, among them 7 cases showed mild enhancement. The maximum diameter of the cysts was 1.5 to 4.4 cm, with mean maximum diameter being (2.8±0.8) cm, and the maximum diameter of most patients (7 cases) were 2 to 3 cm. The other two patients showed only slightly thickened esophageal wall on CT. Five lesions occurred in the horizontal mediastinum of the lower esophagus. All the 11 patients underwent STER operation successfully, among them 6 patients received simple STER and the cysts were completely resected, and the other 5 patients received STER and cauterization with argon ion for the residual cyst wall. The pathological results after operation indicated that 6 cases were congenital esophageal cysts and 5 cases were bronchogenic cysts. The median follow-up time (range) of 11 patients was 42 months (12-86 months). Ten patients recovered well after the operation, and local recurrence, malignant transformation or metastasis were not found. One case had recurrence, and was treated with STER and cauterization with argon ion for residual cyst wall and cured. No complications such as bleeding, fistula, mediastinal infection or death occurred during and after operation in all the 11 patients.Conclusions:STER is a minimally invasive, safe and effective treatment for EDC, and may be a new treatment for EDC.

Objective To study the correlation between EPHX2 gene rs751141 polymorphisms and coronary heart disease (CHD) in Chinese population.Methods Totally 108 patients having more than one major coronary vessel with at least 50％ stenosis defined by Coronary angiography were selected as CHD group and control group consisted of 112 healthy subjects.Rs751141 polymorphisms were detected by PCR and gene sequence.Results Three kinds of genotypes at the rs751141 were detected,and no deviation was observed from HardyWeinberg equilibrium.There was statistical difference between the two groups regarding the distribution of the genotype frequencies and the frequency of allele C (P ＜ 0.05).Conclusion It suggests that rs751141 polymorphism is associated with CHD in Chinese population and the C allele might be a risk factor of CHD.

OBJECTIVETo analyze deaf-related genes in patients with nonsyndromic hearing loss (NSHL) and set up a prenatal diagnosis system for such patients.

METHODSNine NSHL families were collected. Potential mutations of GJB2 (35delG, 176del16, 235delC, 299delAT), SLC26A4 (2168A> G, IVS7-2A> G), GJB3 (538C> T) and mtDNA (1494C> T, 12S rRNA 1555A> G) were detected by direct sequencing. Maternal blood contamination was excluded prior to the testing.

RESULTSSixteen patients from 4 families were detected with GJB2 mutations, 8 patients from 2 families were found with SLC26A4 mutations, and 4 patients from 2 families were found with mutations in mtDNA. For 2 patients from one remaining family, no mutations were found with above genes.

CONCLUSIONA diagnostic system for NSHL has been established, which may provide a basis for prenatal diagnosis and genetic counseling to NSHL families.

Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; DNA, Mitochondrial ; chemistry ; genetics ; Deafness ; diagnosis ; genetics ; Family Health ; Female ; Genetic Predisposition to Disease ; genetics ; Hearing Loss ; diagnosis ; genetics ; Humans ; Male ; Membrane Transport Proteins ; genetics ; Molecular Sequence Data ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; methods ; RNA, Ribosomal ; genetics ; Reproducibility of Results ; Sensitivity and Specificity

OBJECTIVETo establish individualized prenatal diagnosis program for families affected with Duchenne/Becker muscular dystrophy (DMD/BMD) and different clinical background using a variety of methods.

METHODSMultiplex ligation-dependent probe amplification (MLPA) was performed on 50 patients suspected for DMD/BMD. For single exon deletions of the DMD gene, PCR was used for validating the results. For those without any deletion or duplication, Sanger sequencing was used to screen for DMD gene mutations in the children and their mothers. Prenatal genetic testing was provided to female carriers using chorionic villus, amniocentesis or cord blood samples. To ensure the accuracy of diagnosis, all prenatal specimens were also subjected to linkage analysis.

RESULTSAmong the 50 patients with DMD/BMD, 23 harbored large deletions, 11 only had single exon deletions, 10 harbored duplications, and 5 had small scare mutations. No mutation was detected in one family. For 37 women undergoing prenatal diagnosis, 10 fetuses were identified as affected males, 6 were female carriers, while 21 were not found to carry any mutation. Testing of creatine kinase was consistent with the results of prenatal diagnosis. For a patient harboring exon 51 deletion, the same mutation was found in a fetus but not in their mother. The proband and fetus had inherited the same haplotype, which suggested that the mother probably has germline mosaicism for the mutation.

CONCLUSIONApplication of individualized methods for analyzing pregnant women with different clinical background can minimize the risk for giving birth to further children affected with DMD/BMD.

Adolescent ; Child ; Child, Preschool ; DNA Mutational Analysis ; Exons ; Female ; Humans ; Male ; Multiplex Polymerase Chain Reaction ; Muscular Dystrophy, Duchenne ; diagnosis ; genetics ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis

Reoperation due to degenerated bioprostheses is an important factor of high-risk thoracic surgeries. In 2020 ACC/AHA guideline, Valve in Valve (ViV) was recommended for high-risk patient instead of surgical mitral valve replacement. This report described a 77-year-old male patient with a failed mitral bioprosthetic valve, evaluated at high risk of surgery, received a transvenous, transseptal transcatheter mitral valve replacement (TMVR). Tracheal intubation was removed at CCU 3 h after surgery without discomfort such as polypnea. The patient was transferred out of the CCU and discharged on the 3rd day. Compared with transapical access, transvenous transseptal access was less invasive, with shorter duration in CCU and hospitalization.

Humans ; Aortic Valve/surgery* ; Retrospective Studies ; Transcatheter Aortic Valve Replacement ; Sex Factors ; Heart Valve Prosthesis Implantation ; Treatment Outcome ; China ; Aortic Valve Stenosis/surgery* ; Risk Factors ; Risk Assessment

Humans ; Retrospective Studies ; Transcatheter Aortic Valve Replacement/adverse effects* ; Risk Assessment ; China ; Prognosis ; Aortic Valve Stenosis/surgery* ; Treatment Outcome ; Risk Factors ; Aortic Valve

Since December 2019, the corona virus disease 2019 (COVID-19) caused by the 2019 novel coronavirus (2019-nCoV) has been reported in Wuhan, Hubei Province. Almost 70% of patients susceptible to 2019-nCoV are over age of 50 years, with extremely large proportion of critical illness and death of the elderly patients. Meanwhile, the elderly patients are at high risk of osteoporotic fractures especially osteoporotic vertebral compression fractures (OVCF). During the prevention and control of COVID-19 epidemic, orthopedists are confronted with the following difficulties including how to screen and protect OVCF patients, how to accurately diagnose and assess the condition of OVCF patients with suspected or confirmed COVID-19, and how to develop reasonable treatment plans and comprehensive protective measures in emergency and outpatient clinics. In order to standardize the diagnosis and treatment of patients with OVCF diagnosed with COVID-19, the authors jointly develop this expert consensus. The consensus systematically recommends the standardized emergency and outpatient screening and confirmation procedures for OVCF patients with suspected or confirmed COVID-19 and protective measures for emergency and outpatient clinics. Moreover, the consensus describes the grading and classification of OVCF patients diagnosed with COVID-19 according to the severity of illness and recommends different treatment plans and corresponding protective measures based on the different types and epidemic prevention and control requirements.