[Report content and prenatal diagnosis of non-invasive prenatal testing for sex chromosome aneuploidy].

Objective: To analyze the report content, the methods and results of prenatal diagnosis of high risk of sex chromosome aneuploidy (SCA) in non-invasive prenatal testing (NIPT). Methods: A total of 227 single pregnancy pregnant women who received genetic counseling and invasive prenatal diagnosis at Drum Tower Hospital Affiliated to the Medical School of Nanjing University from January 2015 to April 2022 due to the high risk of SCA suggested by NIPT were collected. The methods and results of prenatal diagnosis were retrospectively analyzed, and the results of chromosome karyotype analysis and chromosome microarray analysis (CMA) were compared. The relationship between NIPT screening and invasive prenatal diagnosis was analyzed. Results: (1) Prenatal diagnosis methods for 277 SCA high risk pregnant women included 73 cases of karyotyping, 41 cases of CMA and 163 cases of karyotyping combined with CMA, of which one case conducted amniocentesis secondly for further fluorescence in situ hybridization (FISH) testing. Results of invasive prenatal diagnosis were normal in 166 cases (59.9%, 166/277), and the abnormal results including one case of 45,X (0.4%, 1/277), 18 cases of 47,XXX (6.5%, 18/277), 36 cases of 47,XXY (13.0%, 36/277), 20 cases of 47,XYY (7.2%, 20/277), 1 case of 48,XXXX (0.4%, 1/277), 20 cases of mosaic SCA (7.2%, 20/277), 5 cases of sex chromosome structural abnormality or large segment abnormality (1.8%, 5/277), and 10 cases of other abnormalities [3.6%, 10/277; including 9 cases of copy number variation (CNV) and 1 case of balanced translocation]. Positive predictive value (PPV) for SCA screening by NIPT was 34.7% (96/277). (2) Among the 163 cases tested by karyotyping combined with CMA, 11 cases (6.7%, 11/163) showed inconsistent results by both methods, including 5 cases of mosaic SCA, 1 case of additional balanced translocation detected by karyotyping and 5 cases of additional CNV detected by CMA. (3) NIPT screening reports included 149 cases of "sex chromosome aneuploidy"(53.8%, 149/277), 54 cases of "number of sex chromosome increased" (19.5%, 54/277), and 74 cases of "number of sex chromosome or X chromosome decreased" (26.7%, 74/277). The PPV of "number of sex chromosome increased" and "number of sex chromosome or X chromosome decreased" were 72.2% (39/54) and 18.9% (14/74), respectively, and the difference was statistically significant (χ2=34.56, P<0.01). Conclusions: NIPT could be served as an important prenatal screening technique of SCA, especially for trisomy and mosaicism, but the PPV is comparatively low. More information of NIPT such as the specific SCA or maternal SCA might help improving the confidence of genetic counseling and thus guide clinic management. Multi technology platforms including karyotyping, CMA and FISH could be considered in the diagnosis of high risk of SCA by NIPT.

Isolation and characterization of a goose astrovirus 1 strain causing fatal gout in goslings, China.

In recent years, goose gout, a severe infectious disease, has affected the development of the goose industry in China. Two different genotypes of goose astrovirus (GAstV), named as GAstV-1 and GAstV-2, were identified. GAstV-2 viruses are known to be the causative agent of goose gout; however, GAstV-1 has not been isolated, and the relationship between GAstV-1 and goose gout is unknown. One full genome sequence, designated as GAstV/CHN/TZ03/2019 (TZ03), was determined from the clinical tissue samples of a diseased gosling using next-generation sequencing. The complete genome of TZ03 was 7,262 nucleotides in length with typical genomic characteristics of avastroviruses. The TZ03 strain shares the highest identity (96.6%) with the GAstV-1 strain FLX, but only 51.5 to 61.3% identity with other astroviruses in Avastrovirus. Phylogenetic analysis revealed that the TZ03 strain clustered together with the GAstV-1 strains FLX and AHDY and was highly divergent from GAstV-2 viruses. The TZ03 strain was successfully isolated from goose embryos and caused 100% mortality of goose embryos after 5 passages. Electron microscopy showed that the virus particles were spherical with a diameter of ∼22 nm. The clinical symptoms were reproduced by experimental infection of healthy goslings, which were similar to those caused by GAstV-2 strains. Our data show that GAstV-1 is one of the causative agents of the ongoing goose gout disease in China. These findings enrich our understanding of the evolution of GAstVs that cause gout and provide potential options for developing biological products to treat goose gout.

[Characteristics and predictors of postoperative outcome of Crohn disease patients requiring abdominal surgery: a series of 1 048 cases from a single inflammatory bowel disease centre].

Objective: To examine the clinical characteristics, the potential relative factors for postoperative abdominal septic complications, and prognosis factors of surgical recurrence of Crohn disease (CD) patients after the first surgery. Methods: All the CD patients from Department of General Surgery, Jinling Hospital, Medical School of Nanjing University who had undergone at least one abdominal surgery from January 2007 to December 2017 were included for retrospective analysis. Hospital records were reviewed for information on clinical characteristics. Relative factors of postoperative abdominal septic complications were accessed by Logistic regression models, and prognosis factors of surgical recurrence were accessed by Cox proportional hazards regression models. Results: There were 1 048 patients included (733 males and 315 females), accounting for 1 513 operations. The age was 31(17) years and the length of resected small bowel was 30.0(40.0) cm at the first resection, 20.0(35.0) cm at the second resection, and 20.0(23.5) cm at the third resection. The length of resected small bowel was 25.0(40.0) cm at any resection. At the first abdominal surgery, 70.99%(744/1 048) patients were aged between 17 and 40 years, 66.98%(702/1 048) patients had ileocolonic disease, and 60.40%(633/1 048) patients had penetrating behavior. Penetrating behavior (OR=8.594, 95%CI: 3.397 to 21.740, P<0.01) and current smoking status (OR=2.671, 95%CI: 1.044 to 6.832, P=0.040) were significantly associated with an increased risk of postoperative septic complications, whereas staged operation (OR=0.360, 95%CI: 0.184 to 0.707, P=0.003) was associated with a decreased risk. Male gender (HR=1.500, 95%CI: 1.128 to 1.995, P=0.005), upper gastrointestinal disease (HR=1.526, 95%CI: 1.033 to 2.255, P=0.034), penetrating behavior (HR=1.506, 95%CI: 1.132 to 2.003, P=0.005) and emergency surgery (HR=1.812, 95%CI: 1.375 to 2.387, P<0.01) were significantly associated with an increased risk of postoperative surgical recurrence, whereas staged operation (HR=0.361, 95%CI: 0.227 to 0.574, P<0.01) was significantly associated with a decreased risk. Conclusions: In this cohort of CD patients receiving abdominal surgery from an inflammatory bowel disease center, the median age was 31 years and the median length of resected small bowel was 30 cm, at first resection. Patients who have risk factors of adverse postoperative outcome may be benefited from staged surgical approach.

LncRNA ROR promotes proliferation of endometrial cancer cells via regulating Notch1 pathway.

OBJECTIVE: The aim of this study was to investigate the effects of long non-coding ribonucleic acid regulator of reprogramming (lncRNA ROR) on the proliferation and apoptosis of endometrial cancer (EC) cells, and to explore its possible underlying mechanism. PATIENTS AND METHODS: The expression levels of lncRNA ROR and Notch1 in EC tissues were detected via quantitative reverse transcription-polymerase chain reaction (qRT-PCR). The changes in Notch1 protein were detected via Western blotting. Subsequently, the regulatory mechanism of lncRNA ROR on Notch1 was analyzed using Luciferase reporter gene assay. Moreover, the changes in cell proliferation and apoptosis were determined through cell counting kit-8 (CCK-8) assay and terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) assay, respectively. RESULTS: Both lncRNA ROR and Notch1 were highly expressed in EC tissues (p<0.05). After overexpression of lncRNA ROR, HEC-1A cells had significantly enhanced proliferation (p<0.05) and weakened apoptosis (p<0.05). Meanwhile, the mRNA and protein levels of Notch1 rose remarkably compared with those in control group (p<0.05). Luciferase reporter gene assay revealed that lncRNA ROR could bind to the Notch1 regulatory factor miR-34a and inhibit its activity. CONCLUSIONS: LncRNA ROR regulates the proliferation and apoptosis of EC cells via promoting the expression of Notch1 protein.

CX3CR1 participates in pulmonary angiogenesis in experimental hepatopulmonary syndrome mice through inhibiting AKT/ERK signaling pathway and regulating NO/NOS release.

OBJECTIVE: Hepatopulmonary syndrome (HPS) is a kind of pulmonary microvascular disease and occurs in 15%-30% cirrhosis. This study aimed to investigate the effects of pulmonary CX3CR1 on angiogenesis and associated mechanisms in HPS animal models. MATERIALS AND METHODS: CX3CR1GFP/GFP mice were constructed by replacing CX3CR1 with GFP. Common bile duct ligation (CBDL) mouse model was established with surgery. Release of nitric oxide (NO) was evaluated. Hematoxylin-eosin (HE) staining was employed to examine the inflammation of lung tissues. CD31 expression was detected with immunohistochemistry assay. Western blotting was used to evaluate the expression of CX3CL1, CX3CR1, phosphorylated-AKT (p-AKT), phosphorylated-ERK (p-ERK). Quantitative Real Time-PCR (qRT-PCR) assay was used to examine VEGF, PDGF, iNOS, eNOS, and HO-1 expression. RESULTS: CX3CR1-deficiency (CX3CR1GFP/GFP-sham or CX3CR1GFP/GFP-CBDL mice) significantly reduced NO release compared to wide type (WT)-mice or WT-CBDL mice (p<0.05). CX3CR1-deficiency significantly alleviated inflammation compared to wide type (WT)-mice or WT-CBDL mice (p<0.05). CX3CR1-deficiency significantly reduced CD31 expression compared to WT-sham and WT-CBDL mice, respectively (p<0.05). CX3CR1 also participated in anti-angiogenesis efficacy of Bevacizumab. CX3CR1-deficiency significantly down-regulated the ratio of p-AKT/AKT and p-ERK/ERK and inhibited the secretion of VEGF and PDGF compared to WT-mice (p<0.05). CX3CR1-deficiency significantly reduced iNOS, eNOS, and HO-1 expression compared to WT-mice (p<0.05). CONCLUSIONS: CX3CR1 deficiency reduced VEGF and PDGF production, inhibited p-AKT, and p-ERK activation and down-regulated iNOS, eNOS, and HO-1 expression. Therefore, CX3CR1 participates in pulmonary angiogenesis in the experimental HPS mice via inhibiting AKT/ERK signaling pathway and regulating NO/NOS release. These findings would provide a potential insight for clarifying the pathological mechanisms of HPS.

[Practice and application of enhanced recovery after surgery in perioperative period of liver operation].

Objective: To investigate the feasibility and safety of enhanced recovery after surgery (ERAS) in perioperative period of liver operation. Methods: One hundred and sixty-six patients who underwent liver operation were enrolled as control group, and additional 170 patients were chosen as ERAS group. Preoperative and postoperative indexes of the two groups were compared. Results: Compared with the control group, patients in ERAS group had higher preoperative enteral nutrition support rate, lower incidence of thirst and hunger, earlier initial postoperative feeding, higher prophylactic analgesia rate, lower incidence of outbreak pain, more daily activities, lower incidence of abdominal distention and shorter hospitalization days (all P<0.05). Conclusion: Application of enhanced recovery after surgery on perioperative nursing care in elective liver surgical patients is safe, and it can relieve patients' perioperative discomfort and accelerate postoperative rehabilitation.

Expression of duck hepatitis A virus type 1 VP3 protein mediated by avian adeno-associated virus and its immunogenicity in ducklings.

The avian adeno-associated virus (AAAV) is a replication-defective nonpathogenic virus that has been proved to be useful as a viral vector in gene delivery. In this study, the feasibility of AAAV for transgenic expression of duck hepatitis A virus (DHAV) VP3 structural protein and its ability to induce protective immunity in ducklings was assessed. The recombinant AAAV (rAAAV-VP3) expressing the VP3 protein was prepared by co-infection of Sf9 cells with recombinant baculovirus (rBac-VP3) containing VP3 gene flanked by inverted terminal repeats (ITRs) of AAAV and the other two recombinant baculovirus expressing AAAV functional and structural genes, respectively. The generation of rAAAV-VP3 was demonstrated by electron microscopy, immunofluorescence assay, and western blot analysis. One day old ducklings were inoculated with rAAAV-VP3 or commercial attenuated vaccine and then challenged with DHAV-1 strain SH two weeks post vaccination. Anti-DHAV-1 antibodies were detected in all vaccinated groups by ELISA, and the titers between the rAAAV-VP3 group and the attenuated vaccine group were not statistically significant. Real time RT-PCR analysis showed that the virus copy numbers in the livers of the PBS control group were significantly higher than that of the rAAAV-VP3 and attenuated vaccine groups. In conclusion, we demonstrated that the VP3 expression mediated by rAAAV in ducklings could induce protective immunity against DHAV challenge, and this could be a candidate vaccine for the control of duck viral hepatitis. Keywords: avian adeno-associated virus; duck hepatitis A virus; VP3 gene; immunogenicity.

Protection against duck hepatitis a virus type 1 conferred by a recombinant avian adeno-associated virus.

The avian adeno-associated virus (AAAV) has been proved to be an efficient gene transfer vector for human gene therapy and vaccine research. In this experiment, an AAAV-based vaccine was evaluated for the development of a vaccine against duck hepatitis a virus type 1 (DHAV-1). The major capsid VP1 gene was amplified and subcloned into pFBGFP containing the inverted terminal repeats of AAAV, and then the recombinant baculovirus rBac-VP1 was generated. The recombinant AAAV expressing the VP1 protein (rAAAV-VP1) was produced by co-infecting Sf9 cells with rBac-VP1 and the other 2 baculoviruses containing AAAV functional genes and structural genes respectively, and confirmed by electron microscopy, Western blotting and immunofluorescence assays. Quantitative real-time PCR revealed that the titer of rAAAV-VP1 was about 9 × 1012 VG/mL. Immunogenicity was studied in ducklings. One day ducklings were injected intramuscularly once with rAAAV-VP1. Serum from rAAAV-VP1-vaccinated ducklings showed a systemic immune response evidenced by VP1-specific enzyme-linked immunosorbent assay and virus neutralization test. Furthermore, all ducklings inoculated with rAAAV-VP1 were protected against DHAV-1 challenge. The data of quantitative real-time RT-PCR from livers of challenged ducklings also showed that the level of virus copies in rAAAV-VP1 group was significantly lower than that of the PBS group. Collectively, these results demonstrate that the AAAV-based vaccine is a potential vaccine candidate for the control of duck viral hepatitis.

CtBP2 promotes proliferation and reduces drug sensitivity in non-small cell lung cancer via the Wnt/ß-catenin pathway.

The C-terminal binding protein 2 (CtBP2) is crucial for the activation of the Wnt/ß-catenin pathway and regulates significant cellular processes in multiple cancer cells. However, the role of CtBP2 in non-small cell lung cancer (NSCLC) remains uncertain. Our western blotting and immunohistochemistry assays revealed that CtBP2 expression was obviously increased in NSCLC tissues and cells. In addition, the chi-square test and Kaplan-Meier analysis showed that over-expression of CtBP2 correlates with more invasive tumor phenotype and poor prognosis. In vitro studies with serum starvation-refeeding and CtBP2-shRNA transfection assay demonstrated that CtBP2 expression facilitates NSCLC cell proliferation and reduces sensitivity to cis-diamminedichloroplatinum (CDDP). The possible signaling transduction pathways were investigated, and the immunoprecipitation assay revealed that CtBP2 interacts directly with DvL1. Depletion of CtBP2 resulted in inhibited DvL1 expression and decreased expression of downstream genes. Moreover, our study showed that CtBP2 knockdown enhanced NSCLC cell sensitivity to CDDP through inhibition of the Wnt/ß-catenin pathway. These results suggest that CtBP2 plays a crucial role in NSCLC progression and CDDP sensitivity, and that CtBP2 depletion can provide a new target for NSCLC treatment.

Frequency Up-Conversion Photon-Type Terahertz Imager.

Terahertz imaging has many important potential applications. Due to the failure of Si readout integrated circuits (ROICs) and the thermal mismatch between the photo-detector arrays and the ROICs at temperatures below 40 K, there are big technical challenges to construct terahertz photo-type focal plane arrays. In this work, we report pixel-less photo-type terahertz imagers based on the frequency up-conversion technique. The devices are composed of terahertz quantum-well photo-detectors (QWPs) and near-infrared (NIR) light emitting diodes (LEDs) which are grown in sequence on the same substrates using molecular beam epitaxy. In such an integrated QWP-LED device, photocurrent in the QWP drives the LED to emit NIR light. By optimizing the structural parameters of the QWP-LED, the QWP part and the LED part both work well. The maximum values of the internal and external energy up-conversion efficiencies are around 20% and 0.5%. A laser spot of a homemade terahertz quantum cascade laser is imaged by the QWP-LED together with a commercial Si camera. The pixel-less imaging results show that the image blurring induced by the transverse spreading of photocurrent is negligible. The demonstrated pixel-less imaging opens a new way to realize high performance terahertz imaging devices.

[Effect observation of cryotherapy in the treatment of nasal cavity adhesion].

Objective:To investigate the effect of cryotherapy in the treatment of nasal cavity adhesion.Method:Patients with nasal cavity adhesion(68 sides in total)were randomly devided into the experimental group(34 sides) and the control group(34 sides).The experimental group were treated with cryotherapy and the control group with traditional separation surgery.The subjective symptoms and recovery of nasal mucosa were observed at 1,3 and 8 weeks after treatment.Result:①The postoperative nasal obstruction symptom evaluation score in the experiment group were significantly better than in the control group(P<0.05).②The VAS score of discomfort during therapeutic process in the experiment group were significantly better than in the control group(P<0.05).③The endoscopic mucosa morphology score at 1,3 and 8 weeks postoperatively in the experiment group was significantly better than that in the control group(P<0.05).④The cure rate of experiment group was 97.1% and 76.5% of control group .The cure rate of experiment group was significantly higher than that of the control group(P<0.05).Conclusion:Cryotherapy is a simple and safe therapeutic method in the treatment of nasal cavity adhesion with less discomfort,higher therapeutic effect and better mucosa recovery.Cryotherapy is more likely to be accepted by patients.

[Microstructure of erbium-doped Si-rich thermal oxidation SiO2/Si luminescent thin films].

Er ions with 108 keV to a dose of 1 x 10(17) cm-2 were implanted into Si-rich thermal oxidation SiO2/Si thin film using metal vapor vacuum arc (MEVVA) ion source implanter. Er concentration in as-implanted sample, which was attained to -10 at % correspond to the level of -10(21) atoms.cm-3, was analyzed by Rutherford back-scattering (RBS) and X-ray photoelectron spectroscope (XPS). Contents of Er, Si and O in annealed samples were investigated using XPS at room temperature. It showed that Si content was increased and SiO2 content was decreased with increasing the fluence of Si ions. It was found by use dof reflective high energy electron diffraction (RHEED) and atomic force microscope (AFM) that needle micro-crystalline Si in the surface of annealed samples had been formed and Er segregation and precipitation were formed little. Photoluminescence around 1.54 microns from Er-doped Si-rich thermal oxidized SiO2/Si thin film were studied with a He-Cd laser pumping at 414.6 nm at the low temperature of 77 K and room-temperature (RT).

Nephrocalcinosis and nephrolithiasis due to subcutaneous fat necrosis with hypercalcemia in two full-term asphyxiated neonates: sonographic findings.

Subcutaneous fat necrosis leading to hypercalcemia is rare but well documented in asphyxiated neonates. This paper presents two such neonates in whom sonography revealed the development of nephrocalcinosis and nephrolithiasis. The kidneys had initially been shown to be normal sonographically. In one infant, nephrocalcinosis developed as increasing echogenicity of the medullary pyramids. In the other, increased echogenicity of the renal cortex of uncertain cause developed together with nephrolithiasis. These sonographic appearances have not been described previously in this entity.

Crossed solitary renal ectopia.

A boy being followed for cardiovascular anomalies was found at age fourteen to have a solitary right kidney which drained to the left side of the bladder. We have reviewed the reports of 33 patients with solitary crossed renal ectopia which describe many associated congenital anomalies especially in the genitourinary and skeletal systems. We found no description of associated cardiac anomalies. We review the literature on solitary crossed renal ectopia and describe an additional case.