Objective:To explore the cause of inconsistency between the results of trisomy 7 by expanded non-invasive prenatal testing (NIPT-PLUS) and trisomy 18 by prenatal diagnosis.Methods:A pregnant woman who received genetic counseling at Jiaozuo Maternal and Child Health Care Hospital on July 5, 2020 was selected as the study subject. NIPT-PLUS, systematic ultrasound and interventional prenatal testing were carried out. The middle segment and root of umbilical cord, center and edge of the maternal and fatal surface of the placenta were sampled for the validation by copy number variation sequencing (CNV-seq).Results:The result of NIPT-PLUS indicated that the fetus has trisomy 7. Systematic ultrasound has shown multiple malformations including atrioventricular septal defect, horseshoe kidney, and rocker-bottom feet. However, QF-PCR, chromosomal karyotyping analysis, and CNV-seq of amniotic fluid samples all showed that the fetus was trisomy 18. Validation using multiple placental samples confirmed that the middle segment of the umbilical cord contains trisomy 18, the center of the placenta contained trisomy 7, and other placental sites were mosaicism for trisomy 7 and trisomy 18. Notably, the ratio of trisomy 18 became lower further away from the umbilical cord.Conclusion:The false positive results of trisomy 7 and false negative trisomy 18 by NIPT-PLUS was probably due to the existence of placental mosaicism. Strict prenatal diagnosis is required needed aneuploidy is detected by NIPT-PLUS to exclude the influence of placental mosaicisms.

Objective:To study the clinical features and risk factors of prognosis of neonatal appendicitis.Methods:From January 2014 to December 2022, all infants with neonatal appendicitis and received surgery in our hospital were retrospectively analyzed.Results:A total of 6 cases were enrolled, including 1 boy and 5 girls, with gestational age 36-40 weeks, birth weight 1 990~3 300 g, age of admission 5-11 d and time from illness onset to admission 0.5-4 d. All infants had abdominal distension, combined with vomiting in 4 cases, fever in 3 cases and blood in stool in 1 case. Gastrointestinal perforation was found on preoperative abdominal X-ray in 5 cases. All 6 cases received surgery and confirmed the diagnosis of appendicitis with perforation during the surgery. Appendectomy was performed without mortality. 1 case had Amyand hernia and received high ligation of the hernia sac during operation. 1 case had meningitis and was cured after 3 weeks of antibiotic treatment. 1 case developed adhesive intestinal obstruction 3 months after surgery and underwent intestinal adhesiolysis. One case developed colonic stenosis one month after surgery. The stenotic segment of the colon was resected and primary intestinal anastomosis was performed.Conclusions:Neonatal appendicitis progresses rapidly and is difficult to diagnose. The possibility of appendicitis with perforation should be considered when preoperative abdominal X-ray suggesting pneumoperitoneum. Intraoperatively, it is necessary to pay attention to the relationship between appendiceal perforation and other lesions for comprehensive treatment, and change the surgical approach accordingly.

Objective:To investigate the effect of sleep on physical performance and the correlation between sleep quality and physical performance in the elderly.Methods:In this prospective multicenter case-control study, 472 elderly people aged 60-80 years were recruited from three regions in China, Beijing, Tianjin, and Hainan Province.Basic information of study participants was collected through face-to-face interviews, and physical performance of study participants was assessed by the time up and go(TUG)test on site, with 106 cases(22.5%)in the normal physical performance group and 366 cases(77.5%)in the abnormal group.The Pittsburgh Sleep Quality Index(PSQI)and the Epworth Sleepiness Scale(ESS)were applied to assess sleep quality of study subjects.Correlation analysis was performed to examine factors affecting subjects' physical performance.Results:Age, history of alcohol consumption, BMI, past medical history, the ESS score, daytime sleepiness, and some components of PSQI, such as sleep quality, sleep efficiency, sleep disturbances, use of sleeping drugs and daytime dysfunction, were influencing factors of the TUG score.Two components of PSQI, sleep duration and habitual sleep efficiency, and the ESS score were positively correlated with physical performance.Logistic regression analysis showed that risk factors for decreased physical performance in the elderly included increased age( OR=1.125, 95% CI: 1.083-1.168, P<0.01), history of alcohol consumption( OR=0.482, 95% CI: 0.384-0.605, P<0.001), abnormally high body mass index( OR=1.663, 95% CI: 1.340-2.063, P<0.01), hyperlipemia( OR=0.156, 95% CI: 0.077-0.318, P<0.01), digestive system diseases( OR=0.154, 95% CI: 0.044-0.532, P<0.01), use of sleeping drugs( OR=0.415, 95% CI: 0.202-0.854, P<0.05), daytime sleepiness( OR=4.234, 95% CI: 2.800-6.403, P<0.01), a high habitual sleep efficiency score of PSQI( OR=1.425, 95% CI: 1.214-1.672, P<0.01)and a high sleep disturbances score in PSQI( OR=3.356, 95% CI: 2.337-4.819, P<0.01). Conclusions:The incidence of physical performance decline is high in the elderly.There is a correlation between physical performance and sleep quality.

Objective : To explore the feasibility of CS-BC composite membrane as guided bone regeneration(GBR) membrane by preparing chitosan(CS)-bacterial cellulose(BC) composite membrane, and testing the mechanical strength of the composite membrane both in dry and wet states as well as evaluating its cytocompatibility. Methods: The CS solution and BC solution were mixed in different weight ratios and were dispersed evenly by ultrasonic. Pure CS membrane and composite membranes with different weight ratios of CS and BC(10 ∶1, 10 ∶3, 10 ∶5, 10 ∶7 and 10 ∶9) were prepared by self-evaporation process. Thereafter, the fabricated membranes were immersed into sodium hydroxide ethanol solution to remove the acid. The tensile strength of the as-fabricated membranes under dry condition and under hydration were measuredviamechanical universal testing machine(n=6). The microstructures of the composite membrane with the highest tensile strength were observed by scanning electron microscopy(SEM) and transmission electron microscopy(TEM). To characterize the chemical composition of the composite membrane, Fourier transform infrared(FTIR) spectrometer and X-ray diffraction(XRD) were used. CCK-8 assay was carried out to evaluate the survival rate of cells in the control group(without any membrane), the pure CS membrane group and the composite membrane group with maximum tensile strength(n=5) after cocultured with rat bone marrow stem cells(RBMSCs) for 1, 4 and 7 d. Results : The cross-section of the composite membrane displayed ordered layer structure after introducing BC into CS matrix. The results of FTIR and XRD indicated the existence of BC in the composite membrane. The tensile strength of the CS-BC composite membrane increased first and then decreased with the increase of BC ratio. The tensile strength of the composite membrane reached the highest in dry and wet states when the weight ratio of CS and BC is 10 ∶7, which were almost(204.7±63.0) MPa and(44.4±6.4) MPa respectively. After cocultured with RBMSCs for 1, 4 and 7 d, there was no significant difference in the number of cells among the pure CS group, the CS-BC composite membrane group and the blank control group. Conclusion When the weight ratio of CS and BC is 10 ∶7, the tensile strength of the composite membrane are the best both in dry and wet state and the cell compatibility is excellent.

Objective : By testing the tensile strength of the poly(vinyl alcohol) (PVA)/bacterial cellulose(BC) composite membrane and its effect on the proliferation of mouse embryonic fibroblasts, its potential as new bone tissue engineering membrane were studied. Methods : PVA⁃BC films of different proportions and pure PVA films were prepared by self⁃evaporation method. The tensile strength of each group was tested. The group with the highest tensile strength was immersed in deionized water for 0. 5 h to measure its wet tensile strength. The microstructure of pure PVA film and the film with the highest tensile strength was observed by scanning electron microscopy (SEM) .X⁃ray diffraction and Fourier transform infrared ( FTIR) spectroscopy were used to analyze pure PVA, pure BC,and the film with the highest tensile strength respectively. Cell counting kit⁃8 (CCK⁃8) was applied to detect the survival rate in the blank control group, the pure PVA film group, and the composite film group with the highest tensile strength. Results : PVA⁃BC composite films were successfully prepared, X⁃ray diffraction and FTIR analysis revealed the co⁃presence of PVA and bacterial cellulose in the composite film. The initial tensile strength of the composite membrane increased with the BC ratio. When the concentration ratio of PVA to BC was 10 ∶ 7, the tensile strength reached (155. 5 ± 14. 7) MPa, and wet samples reached (13. 8 ± 1. 2) MPa. The CCK⁃8 test of NIH/3T3 showed that there was no significant difference among the PVA⁃BC composite film group, pure PVA group and blank control group after 1,4 and 7 days of cell culture ( P > 0. 05 ) . Conclusion PVA⁃BC film fabricated by blending method obtain certain mechanical properties and biocompatibility in both wet and dry states, which may be an appropriate candidate as a GBR membranes for clinical application.

Objective:To observe the effect of bacteroides fragilis BF839 intervention on learning, memory and social novelty of fragile X-mental retardation gene 1 ( Fmr1) knockout (KO) mice. Methods:Thirty three-week-old Fmr1 KO mice were randomly divided into Fmr1 KO group ( n=15) and Fmr1 KO+BF839 group ( n=15). Mice in the Fmr1 KO group freely drank autoclaved tap water everyday; mice in the Fmr1 KO+BF839 group drank BF839 bacterial liquid (10 mL/d) everyday;11 wild-type mice freely drank autoclaved tap water everyday were set as controls (WT group). After 4 weeks of intervention, Morris water maze test was used to observe the differences in escape latency and frequencies of crossing the original platform among mice in each group; Three-chamber Social Interaction Test was used to observe the differences in contact frequencies and contact durations with unfamiliar mice among mice in each group. Results:On the 4 th d of experiment, the escape latency of mice in the Fmr1 KO group ([46.06±10.29] s) was significantly longer than that in the WT group ([33.39±12.02] s, P<0.05); the escape latency of mice in the Fmr1 KO+BF839 group ([28.39±9.07] s) was significantly shorter than that in the Fmr1 KO group ( P<0.05); the escape latency of mice in the Fmr1 KO+BF839 group was slightly shorter than that in the WT group without significant difference ( P>0.05). The frequencies of crossing through the original platform of mice in Fmr1 KO group (0.00[0.00, 1.00] time) was slightly less than that in WT group (1.00 [0.00, 1.00] time) without significant difference ( P>0.05); that in the Fmr1 KO+BF839 group (1.50[1.00, 2.00] times) was significantly larger than that in the Fmr1 KO group and WT group ( P<0.05). The contact frequencies of the mice in the Fmr1 KO group with unfamiliar mice (5.50[0.50, 12.75] times) was less than that in the WT group (7.00[4.00, 17.00] times) without significant difference ( P>0.05); that in the Fmr1 KO+BF839 group (23.00[16.00, 36.00] times) was significantly increased as compared with that in the Fmr1 KO group and WT group ( P<0.05). The contact duration of mice in the Fmr1 KO group with unfamiliar mice (9.50[0.50, 41.95] s) was significantly shorter than that in the WT group (142.00[65.00, 171.60] s, P<0.05); Fmr1 KO+BF839 group had significantly longer contact duration with unfamiliar mice (69.60 [50.40, 98.40] s) than Fmr1 KO group ( P<0.05); the contact duration of mice in Fmr1 KO+BF839 group with unfamiliar mice was shorter than that in WT group without significant difference ( P>0.05). Conclusion:Early BF839 intervention can significantly improve the learning, memory abilities and social novelty of Fmr1 KO mice, and even restore the Fmr1 KO mice to normal levels, which suggests that BF839 may become a new tool for treatment of fragile X syndrome and autism.

Objective:To investigate the association of FAT atypical cadherin 1 (FAT1) with clinicopathological parameters and prognosis in esophageal squamous cell carcinoma (ESCC).Methods:The retrospective cohort study was conducted. The clinicopathological data of 124 patients with ESCC who were admitted to Shanxi Cancer Hospital from January 2011 to December 2015 were collected. There were 85 males and 39 females, aged from 40 to 72 years, with a median age of 60 years. The ESCC tissues surgically removed and adjacent tissues specimens were collected to prepare tissue microarray for immunohistochemical staining. The 5 cases of ESCC tissues and adjacent tissues were analyzed by real-time quantitative polymerase chain reaction (qRT-PCR). Observation indicators: (1) the expression of FAT1 protein in ESCC and adjacent tissues; (2) the expression of FAT1 RNA in ESCC and adjacent tissues; (3) the expression of FAT1 protein in ESCC tissues and its association with clinicopathological parameters; (4) follow-up and survival. Follow-up using outpatient examination and telephone interview was conducted to detect survival of patients up to February 13, 2019. The survival time was from surgical date to tumor-related death or endpoint of follow-up. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was analyzed using the t test. Measurement data with skewed distribution were represented as M (range). Count data were described as absolute numbers or percentages, and comparison between groups was analyzed using the chi-square test. Comparison of ordinal data was analyzed using the non parameter rank sum test. The Kaplan-Meier method was used to calculate survival time, and Log-rank test was used for survival analysis. Results:(1) The expression of FAT1 protein in ESCC and adjacent tissues: of 124 specimens, the 107 cases of ESCC tissues and 93 cases of adjacent tissues were finally obtained because of exfoliative tissues. There were 76 cases of ESCC tissues and corresponding adjacent tissues matched. Results of immuno-histochemical staining showed that FAT1 protein was expressed in both ESCC and adjacent tissues and was brown after staining. FAT1 was located in cytomembrane, with high expression of FAT1 as ≥75 and low expression as <75. The relative expression levels of FAT1 protein in ESCC and adjacent tissues were 68±42 and 77±37, showing a significant difference between ESCC and adjacent tissues ( t=2.380, P<0.05). (2) The expression of FAT1 RNA in ESCC and adjacent tissues: results of qRT-PCR showed that the relative expression levels of FAT1 RNA in 5 cases of ESCC and adjacent tissues were 1.6±0.4 and 2.5±0.3, with a significant difference between them ( t=3.560, P<0.05). (3) The expression of FAT1 protein in ESCC tissues and its association with clinicopathological parameters: of the 107 ESCC patients, 58 cases had high expression of FAT1. There were 42 and 16 cases with high expression of FAT1 in 65 non-drinking patients and 42 drinking patients, respectively, showing a significant difference between them ( χ2=7.229, P<0.05). (4) Follow-up and survival: 96 of 107 ESCC patients were followed up for 38.0?94.9 months, with a median follow-up time of 45.9 months. Survival analysis showed that the survival time of patients with high FAT1 expression was 24 months, versus 22 months of patients with low FAT1 expression, indicating no significant difference between them ( χ2=1.773, P>0.05). Results of subgroup analysis showed that the survival time was 24 months and 21 months of female patients with high and low FAT1 expression, 23 months and 22 months of non-smoking patients with high FAT1 expression and low FAT1 expression, 23 months and 21 months of non-drinking patients with high FAT1 expression and low FAT1 expression, respectively, showing significant differences between them ( χ2=8.769, 12.827, 10.724, P<0.05). Conclusions:The expression of FAT1 in ESCC tissues is low. Female, non-smoking and non-drinking ESCC patients with high FAT1 expression have good survival.

Objective:To analyze the distribution and genetic characteristics of sporadic adult diarrhea virus in Chaoyang District, Beijing.Methods:Fecal samples from 177 adult patients with sporadic diarrhea were collected from 4 enteric outpatient clinics in Chaoyang District, Beijing from May to December 2019. Nucleic acid detection of Norovirus, Sappovirus, Rotavirus, Enteric Adenovirus and Astrovirus in the samples was performed by real-time quantitative PCR. The positive samples were amplified by RT-PCR/PCR and sequenced. The phylogenetic analysis was performed by neighbor-Joining (NJ) methods of Mega 6.0 software.Results:There were 60 of 177 (33.90%) adult sporadic diarrhea samples positive for enteric viral pathogens. Among them, 47 cases were infected with single virus, including 29 cases of Norovirus, 9 cases of Sappovirus, 8 cases of Astrovirus and 1 case of Enteric Adenovirus, in addition with 13 cases of multiple infections. None of rotavirus was detected. Partial sequences were successfully obtained for analysis, including 16 cases of GI Norovirus (7 subtypes and GI.3[P13] predominant), 10 cases of GII Norovirus (5 subtypes and GII.6[P7] predominant), 12 cases of Sappovirus (4 subtypes and GI.2 predominant), and 7 cases of Astrovirus (2 subtypes and AST-1 predominant).Conclusion:Norovirus, Astrovirus and Sappovirus are main pathogens among sporadic adult diarrhea in Beijing in 2019, and and different pathogenic gene subtypes show diverse characteristics.

Objective:To analyze the distribution and genetic characteristics of sporadic adult diarrhea virus in Chaoyang District, Beijing.Methods:Fecal samples from 177 adult patients with sporadic diarrhea were collected from 4 enteric outpatient clinics in Chaoyang District, Beijing from May to December 2019. Nucleic acid detection of Norovirus, Sappovirus, Rotavirus, Enteric Adenovirus and Astrovirus in the samples was performed by real-time quantitative PCR. The positive samples were amplified by RT-PCR/PCR and sequenced. The phylogenetic analysis was performed by neighbor-Joining (NJ) methods of Mega 6.0 software.Results:There were 60 of 177 (33.90%) adult sporadic diarrhea samples positive for enteric viral pathogens. Among them, 47 cases were infected with single virus, including 29 cases of Norovirus, 9 cases of Sappovirus, 8 cases of Astrovirus and 1 case of Enteric Adenovirus, in addition with 13 cases of multiple infections. None of rotavirus was detected. Partial sequences were successfully obtained for analysis, including 16 cases of GI Norovirus (7 subtypes and GI.3[P13] predominant), 10 cases of GII Norovirus (5 subtypes and GII.6[P7] predominant), 12 cases of Sappovirus (4 subtypes and GI.2 predominant), and 7 cases of Astrovirus (2 subtypes and AST-1 predominant).Conclusion:Norovirus, Astrovirus and Sappovirus are main pathogens among sporadic adult diarrhea in Beijing in 2019, and and different pathogenic gene subtypes show diverse characteristics.

Objective:To analyze the efficacy of dienogest combined with traditional Chinese medicine(TCM) in the treatment of endometriosis (EMs) and its influence on pregnancy and recurrence.Methods:A total of177 patients with EMs admitted to Affiliated Hospital of Shandong University of Chinese Medicine and Linyi Hospital of Traditional Chinese Medicine from December 2018 to June 2019 were divided into the observation group (88 cases) and the control group (89 cases) according to the random number table method. The control group was treated with dienogest 25 mg once a day, and the observation group was treated with dienogest combined with TCM decoction. They all were treated for 6 months. The clinical efficacy, pregnancy and recurrence of the two groups were compared, and EMs health profile-5 (EHP- 5) of the Chinese version was used to evaluate patients′ quality of life of the two groups.Results:The total effective rate in the observation group was higher than that in the control group: 92.04%(81/88) vs. 79.78%(71/89), and the difference was statistically significant ( χ2 = 5.492, P<0.05). The time of ovulation recovery and menstrual recovery in the observation group were shorter than those in the control group: (13.38 ± 3.60) d vs. (14.69 ± 3.15) d, (26.48 ± 4.23) d vs. (28.72 ± 3.40) d, and the differences were statistically significant ( P<0.05). There was no statistically significant difference in the 1-year pregnancy rate between the two groups ( P>0.05). The 1-year recurrence rate in the observation group was lower than in the control group: 1.14%(1/88) vs. 10.11%(9/89), and the difference was statistically significant ( P<0.05). The scores of pain, emotional state, sense of control, sexual life, doctor-patient relationship , infertility, and treatment effect in EHP-5 in the observation group after the treatment were lower than those in the control group, and the differences were statistically significant ( P<0.05). Conclusions:Compared with dienogest treatment alone, the combination of TCM treatment can further improve the efficacy. It is beneficial to pregnancy. It can reduce the recurrence rate, improve the quality of life more significantly, and has great safety.