Objective:To summarize the ultrasonographic characteristics, genetic etiology, and perinatal prognosis of fetuses with absence of ductus venosus (ADV).Methods:A retrospective study enrolled 84 singleton pregnancies that underwent prenatal ultrasound examination and were diagnosed with fetal ADV at the First Affiliated Hospital of Zhengzhou University from June 2017 to July 2022. Based on prenatal ultrasonographic findings, the cases were divided into isolated ADV group ( n=37), ADV with ultrasound soft markers group ( n=9), and ADV with definite ultrasound abnormalities group ( n=38). According to the gestational age at the initial diagnosis of ADV, they were categorized into early pregnancy group (11-13 weeks of 6 days) with 17 cases, mid-pregnancy group (14-27 weeks of 6 days) with 45 cases, and late pregnancy group (≥28 weeks) with 22 cases. Depending on the direction of blood flow in the intra-abdominal segment of the umbilical vein, they were classified into umbilical vein directly entering the portal sinus group ( n=75), intrahepatic umbilical vein abnormal shunt group ( n=4), and extrahepatic umbilical vein shunt group ( n=5). The clinical characteristics of each group were summarized, and compared using the Chi-square, trend Chi-square tests, Fisher's exact test and Bonferroni correction test. Results:The common ultrasonographic abnormalities in the 84 cases of ADV fetuses were cardiac anomalies (27.4%, 23/84), cystic hygroma (10.7%, 9/84), fetal hydrops (9.5%, 8/84), and body cavity effusion (8.3%, 7/84). The proportions of fetuses with ADV and definite ultrasound abnormalities detected in the early, mid, and late pregnancy were 16/17, 44.4% (20/45), and 9.1% (2/22), respectively, with a higher proportion of definite ultrasound abnormalities associated with earlier detection of ADV ( χ 2trend=27.25, P<0.001). Among them, 21 cases underwent chromosomal karyotyping and/or chromosomal copy number variation sequencing or expanded non-invasive prenatal testing, with five abnormalities detected, including 45,X, trisomy 13, trisomy 22 mosaicism, trisomy 7 mosaicism, and a 14 Mb duplication at 22q12.3q13.33. The neonatal survival (28 days after birth) rates with ADV detected in the early, mid, and late pregnancy gradually increased, at 1/17, 43.9% (18/41), and 90.5% (19/21), respectively ( χ 2trend=27.04, P<0.001). The neonatal survival rates of the isolated ADV group and the group with ultrasound soft markers were higher than that of the group with definite ultrasound abnormalities [93.9% (31/33) and 6/9 vs. 2.7% (1/37), Bonferroni corrected, both P<0.001]. The neonatal survival rates of the umbilical vein directly entering the portal sinus group, intrahepatic umbilical vein abnormal shunt group, and extrahepatic umbilical vein shunt group were 50.0% (35/70), 0/4, and 1/5, respectively, with no statistically significant difference (Fisher's exact test, P=0.105). Conclusions:The earlier the detection of fetal ADV, the more likely it is to be associated with definite ultrasound abnormalities and have lower neonatal survival rates. This highlights the importance of ultrasonographic examination of the fetal ductus venosus. Once ADV is detected, attention should be paid to other potential ultrasound abnormalities, and genetic testing should be completed.

OBJECTIVE: Flavonoids are the bioactive compounds in safflower (Carthamus tinctorius), in which chalcone synthase (CHS) is the first limiting enzyme. However, it is unclear that which chalcone synthase genes (CHSs) are participated in flavonoids biosynthesis in C. tinctorius. In this study, the CHSs in the molecular characterization and enzyme activities were investigated. METHODS: Putative chalcone biosynthase genes were screened by the full-length transcriptome sequences data in C. tinctorius. Chalcone biosynthase genes in C. tinctorius (CtCHSs) were cloned from cDNA of flowers of C. tinctorius. The cloned gene sequences were analyzed by bioinformatics, and their expression patterns were analyzed by real-time PCR (RT-PCR). The protein of CtCHS in the development of flowers was detected by polyclonal antibody Western blot. A recombinant vector of CtCHS was constructed. The CtCHS recombinant protein was induced and purified to detect the enzyme reaction (catalyzing the reaction of p-coumaryl-CoA and malonyl-CoA to produce naringin chalcone). The reaction product was detected by HPLC and LC-MS. RESULTS: Two full-length CtCHS genes were successfully cloned from the flowers of safflower (CtCHS1 and CtCHS3), with gene lengths of 1525 bp and 1358 bp, respectively. RT-PCR analysis showed that both genes were highly expressed in the flowers, but the expression of CtCHS1 was higher than that of CtCHS3 at each developmental stage of the flowers. WB analysis showed that only CtCHS1 protein could be detected at each developmental stage of the flowers. HPLC and LC-MS analyses showed that CtCHS1 could catalyze the conversion of p-coumaryl-CoA and malonyl-CoA substrates to naringin chalcone. CONCLUSION CtCHS1 is involved in the biosynthesis of naringin chalcone in safflower.

OBJECTIVE: To carry out prenatal diagnosis for a fetus with normal ultrasonographic finding at 20 weeks' gestation but a copy number variant(CNV) of 13q indicated by non-invasive prenatal test (NIPT). METHODS: Karyotyping analysis and chromosomal CNV assay were carried out on the amniotic fluid sample. Parental peripheral blood sample was collected for chromosomal analysis. Detailed fetal ultrasound scan was carried out to rule out structural abnormalities of the fetus. RESULTS: The fetus was detected with a heterozygous 10.14 Mb deletion at 13q21.1q21.32, which has originated from the phenotypically normal mother. No apparent karyotypic abnormality was detected in the fetus and its parents. No ultrasonic abnormality was found in the fetus. CONCLUSION Both the fetus and its mother have carried a heterozygous 10.14 Mb deletion at 13q21.1q21.32 and presented normal phenotypes.Combined with literature review, the segmental deletion was judged to be a benign variant.
Female ; Genetic Counseling ; Humans ; Karyotyping ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography, Prenatal

OBJECTIVE: To explore the genetic etiology in four patients with hyperbilirubinemia, and discuss the correlation between clinical characteristics and molecular basis. METHODS: The data of clinical manifestation and auxiliary examinations were collected. Genomic DNA of the four patients was extracted and analyzed by next-generation sequencing using the panel including genes involved in hereditary metabolic liver diseases. Suspected variants were verified by Sanger sequencing. RESULTS: All of the four patients were males with normal liver enzymes. It was revealed that all the patients had heterozygous variants, among which c.3011C>T, c.2443C>T and c.2556del were the variants which have not been reported previously. CONCLUSION All of the patients were diagnosed as Dubin-Johnson syndrome (DJS) caused by ABCC2 gene variants. The novel variants add to the spectrum of genetic variants of the disease. Because of the favorite prognosis, precise diagnosis can greatly reduce the psychological pressure of patients and avoid excessive treatments. At the same time, it could provide pertinent genetic counseling for the families.
DNA ; Female ; Heterozygote ; Humans ; Jaundice, Chronic Idiopathic/genetics* ; Male ; Multidrug Resistance-Associated Protein 2 ; Multidrug Resistance-Associated Proteins/genetics* ; Phenotype

Objective:To analyze the clinical features and genetic basis for a child featuring elevated creatine kinase (CK).Methods:Next-generation sequencing (muscular dystrophy-related gene panel) was carried out for the proband. Candidate variants were verified by Sanger sequencing of the child and his parents.Results:The child was found to harbor compound heterozygous variants of the FKTN gene, including a missense c. 536G>C (p.R179T) variant from his father and a non-frameshift c. 1299_1301delGTG (p.W434del) variant from his mother. Both variants were predicted to be pathogenic. Conclusion:The compound heterozygous variants of the FKTN gene probably underlay the disease in this child. Above finding has expanded the mutation spectrum of congenital muscular dystrophy.

Objective:To explore the value of radiomics based on 18F-fluorodeoxyglucose (FDG) PET/CT in predicting the Children′s Oncology Group (COG) risk stratification of neuroblastoma (NB). Methods:From March 2018 to November 2019, the 18F-FDG PET/CT images of 125 NB children (51 males, 74 females, age: 0.5-10.5 years) confirmed pathologically in Beijing Friendship Hospital were retrospectively analyzed. According to the COG classification, patients were divided into high-risk group and non-high-risk group (including low- and intermediate-risk). Imaging radiomics features were extracted from PET and CT images and screened. Logistic regression was used to build the first model based on radiomics features (R_model) and calculate radiomics score (Rad_score), then build the second model (RD_model) based on Rad_score and demographic features and at last build the third model (RDC_modle) based on Rad_score, demographic features and clinical features. The receiver operating characteristic (ROC) curve was used to evaluate the predictive efficacy of these models. Results:The training set contained 94 NB cases (63 high-risk cases, 31 non-high-risk cases), and the validation set contained 31 NB cases (21 high-risk cases, 10 non-high-risk cases). Four radiomics features were obtained by screening, of which two features were based on CT images and the other two features were based on PET images. The area under the curves (AUCs) of the R_model, RD_model and RDC_model in training or validation set were 0.91, 0.94, 0.98 or 0.86, 0.92, 0.95, respectively. The accuracies of the R_model, RD_model and RDC_model in training or validation set were 86%(81/94), 89%(84/94), 93%(87/94) or 84%(26/31), 84%(26/31), 87%(27/31), respectively.Conclusions:Radiomics based on 18F-FDG PET/CT can accurately predict the COG risk stratification of NB. Prediction model of radiomics features combined with demographic and clinical characteristics can further improve the accuracy of predicting NB COG risk stratification, which can help personalized and precise therapy protocol management in NB.

Objective:To explore the effect of plastic surgery suture technique and its proficiency in facial scar inhibition after trauma, and to explore the key factors to improve the suture proficiency of junior residents.Methods:The data of patients with facial trauma who underwent plastic surgery suture in the department of plastic and reconstructive surgery of Ningbo First Hospital from June 2017 to July 2019 were retrospectively analyzed. They were divided into senior group and junior group according to the seniority of chief surgeon. The general condition, scar appearance and local symptoms of the two groups were evaluated by SCAR Scale, including scar expansion, erythema, hyperpigmentation or hypopigmentation, suture marks, hyperplasia or atrophy, scar pruritus, scar pain, and the result were statistically analyzed.Results:A total of 83 patients (54 females and 29 males) were included in this study, the maximum age was 63, the minimum age was 3, and the average age was (31. 7±13. 3), including senior group (52 cases) and junior group (31 cases) . The differences were not statistically significant in gender, age, injury time, wound length and complications between the two groups. The total scores of SCAR Scale in the senior and junior groups were 2. 18±0. 98 and 2. 78±1. 30, respectively, the difference was statistically significant ( P=0. 020 ). The senior group was better than the junior group in inhibiting scar expansion ( P=0. 035 ), eliminating suture marks ( P =0. 018 ) , overall scar impression ( P=0. 038 ) and reducing pigment abnormality ( P =0. 045 ). However, in inhibiting erythema and inhibiting scar hyperplasia or atrophy, the differences were not statistically significant between two groups. In the senior group, 4 patients had pain within 24 hours, 3 patients had pruritus; in the junior group, 2 patients had pain, 3 patients had pruritus. Conclusions:Plastic surgery suture technique will effectively improve the appearance of facial scar after trauma, especially in inhibiting scar expansion, erythema, hyperplasia or atrophy, and overall impression. Junior doctors can be competent for this work to a certain extent, but thay need long-term training to master the technology, and skilled operation can further improve the curative effect.

Objective:To explore the effect of plastic surgery suture technique and its proficiency in facial scar inhibition after trauma, and to explore the key factors to improve the suture proficiency of junior residents.Methods:The data of patients with facial trauma who underwent plastic surgery suture in the Department of Plastic and Reconstructive Surgery of Ningbo First Hospital from June 2017 to July 2019 were retrospectively analyzed. They were divided into senior group and junior group according to the seniority of chief surgeon. The general condition, scar appearance and local symptoms of the two groups were evaluated by the scar cosmesis assessment and rating scale(SCAR), including scar expansion, erythema, hyperpigmentation or hypopigmentation, suture marks, hyperplasia or atrophy, scar pruritus, scar pain, and the results were statistically analyzed.The mean of continuous data were calculated and expressed as Mean ± SD, the differences between groups were tested by t-test, and the classified data were expressed by rate, and the differences between groups were tested by chi-square test. Results:A total of 83 patients (54 females and 29 males) were included in this study, the maximum age was 63, the minimum age was 3, and the average age was 31.7±13.3 years old, including senior group (52 cases) and junior group (31 cases). The differences were not statistically significant in gender, age, injury time, wound length and complications between the two groups. The total scores of SCAR scale in the senior and junior groups were 2.18±0.98 and 2.78±1.30, respectively, the difference was statistically significant ( P=0.020). The senior group was better than the junior group in inhibiting scar expansion ( P=0.035), eliminating suture marks ( P=0.018), overall scar impression ( P=0.038) and reducing pigment abnormality ( P=0.045). However, in inhibiting erythema and inhibiting scar hyperplasia or atrophy, the differences were not statistically significant between two groups. In the senior group, 4 patients had pain within 24 hours, 3 patients had pruritus; in the junior group, 2 patients had pain, 3 patients had pruritus. Conclusions:Plastic surgery suture technique will effectively improve the appearance of facial scar after trauma, especially in inhibiting scar expansion, erythema, hyperplasia or atrophy, and overall impression.Junior doctors can be competent for this work to a certain extent, but thay need long-term training to master the technology, and skilled operation can further improve the curative effect.

Objective:To disclose the expression and correlation of E6, E7 and PD-L1 in cervical squamous cell carcinoma (CSCC) tissues and explore the immune regulation of E6, E7 on PD-L1.Methods:The expressions of E6, E7 and PD-L1 in human papillomavirus (HPV) negative normal cervical tissue, cervical intraepithelial neoplasia (CIN) tissue and HPV16, 52 and 58 positive CSCC tissue were detected by Western blot (WB). HPV16 positive CSCC and HPV negative CSCC tissues were used for primary cell isolation, identification and culture. E6, E7 small interfering RNAs (siRNAs) were constructed and transfected into HPV16 positive CSCC cells via liposomes.The expression of PD-L1 in the cells was detected by WB. Plasmids of E6, E7 gene were constructed and overexpressed in HPV negative CSCC cells to detect the expression of PD-L1.Results:The expression of E6, E7 and PD-L1 was not detected in the HPV negative normal cervical. While in the HPV16, 52, 58 positive CSCC tissue group, the expression of all the three were significantly higher than that in the CIN group ( P<0.01). Primary HPV16 positive CSCC and HPV negative CSCC cells were successfully isolated and cultured, which were named as H16CC cell lines and HNCC cell lines respectively. After inhibiting the expression of E6, E7 in H16CC cell lines, the expression of PD-L1 was significantly decreased ( P<0.05). The expression of PD-L1 was significantly increased after the overexpression of E6, E7 in HNCC cell lines ( P<0.05). Conclusions:The expression of PD-L1 is positively correlated with E6, E7, which may regulate the occurrence and development of CSCC by mediating the immune escape mechanism of PD-L1 in CSCC.

Objective:To explore the effect of plastic surgery suture technique and its proficiency in facial scar inhibition after trauma, and to explore the key factors to improve the suture proficiency of junior residents.Methods:The data of patients with facial trauma who underwent plastic surgery suture in the department of plastic and reconstructive surgery of Ningbo First Hospital from June 2017 to July 2019 were retrospectively analyzed. They were divided into senior group and junior group according to the seniority of chief surgeon. The general condition, scar appearance and local symptoms of the two groups were evaluated by SCAR Scale, including scar expansion, erythema, hyperpigmentation or hypopigmentation, suture marks, hyperplasia or atrophy, scar pruritus, scar pain, and the result were statistically analyzed.Results:A total of 83 patients (54 females and 29 males) were included in this study, the maximum age was 63, the minimum age was 3, and the average age was (31. 7±13. 3), including senior group (52 cases) and junior group (31 cases) . The differences were not statistically significant in gender, age, injury time, wound length and complications between the two groups. The total scores of SCAR Scale in the senior and junior groups were 2. 18±0. 98 and 2. 78±1. 30, respectively, the difference was statistically significant ( P=0. 020 ). The senior group was better than the junior group in inhibiting scar expansion ( P=0. 035 ), eliminating suture marks ( P =0. 018 ) , overall scar impression ( P=0. 038 ) and reducing pigment abnormality ( P =0. 045 ). However, in inhibiting erythema and inhibiting scar hyperplasia or atrophy, the differences were not statistically significant between two groups. In the senior group, 4 patients had pain within 24 hours, 3 patients had pruritus; in the junior group, 2 patients had pain, 3 patients had pruritus. Conclusions:Plastic surgery suture technique will effectively improve the appearance of facial scar after trauma, especially in inhibiting scar expansion, erythema, hyperplasia or atrophy, and overall impression. Junior doctors can be competent for this work to a certain extent, but thay need long-term training to master the technology, and skilled operation can further improve the curative effect.