Objective:To investigate the genetic causes of fetuses with abnormal nasal bone development in early pregnancy.Methods:A retrospective study was conducted which involved 422 cases of singleton pregnancies with nasal bone development abnormalities indicated by ultrasound screening at 11 to 13 weeks and 6 days of gestation, who underwent chorionic villus sampling for prenatal diagnosis at the Prenatal Diagnosis and Genetic Center, Maternity & Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2015 to May 2023. All cases underwent chromosomal karyotype analysis and single nucleotide polymorphism array (SNP-array) analysis. Based on whether other abnormal ultrasound indicators were present, the cases were divided into isolated (175 cases) and non-isolated groups (247 cases). The results of invasive prenatal diagnosis, distribution of chromosomal abnormalities, detection of copy number variation (CNV) in fetuses with nasal bone development abnormalities, the relationship between maternal age, number of abnormal ultrasound indicators and chromosomal abnormalities, and pregnancy outcomes were analyzed. Statistical analysis was performed using the Chi-square test (continuity correction Chi-square test or Fisher's exact test). Results:(1) Among the 422 cases, 262 cases (62.1%) showed no abnormalities with both detection techniques; 160 cases had abnormalities, including 145 cases (34.4%) had consistent abnormal results and types of abnormalies with the two techniques; two cases (0.5%) had chromosomal translocations detected by karyotype analysis but not by SNP-array analysis; 13 cases (3.1%) had no abnormalities detected by karyotype analysis but had abnormal SNP-array results. This study's overall detection rate of chromosomal abnormalities was 37.9% (160/422), with an additional detection rate of 4.7% (13/275) using SNP-array technology. (2) Among the 160 cases of chromosomal abnormalities, there were 140 cases of aneuploidy, 18 cases of CNV, and two cases of chromosomal translocation. The overall detection rate of chromosomal abnormalities and the detection of aneuploidy, and pathogenic CNV in the non-isolated group was higher than that in the isolated group [74.3% (130/175) vs. 12.1% (30/247), χ2=168.02; 68.0% (119/175) vs. 8.5% (21/247), χ2=163.56; 5.7% (10/175) vs. 0.8% (2/247), χ2=4.74; all P<0.05]. Eighteen cases of CNV were detected using SNP-array technology, including eight cases in the isolated group and ten cases in the non-isolated group. (3) The age of the 422 pregnant women was (33.1±5.4) years. In both isolated and non-isolated groups, the detection rate of chromosomal abnormalities was higher in women of advanced age (expected delivery age ≥35 years) than those not [isolated group: 20.0% (17/85) vs. 8.6% (14/162), χ2=6.55; non-isolated group: 82.1% (69/84) vs. 65.9% (60/91), χ2=5.92; both P=0.010]; regardless of maternal age, the detection rate of chromosomal abnormalities in the non-isolated group was significantly higher than that in the isolated group ( χ2 were 65.28 and 92.42, respectively, both P<0.001). (4) In the non-isolated group, the detection rates of chromosomal abnormalities were 69.0% (78/113) and 83.9% (52/62) when nasal bone abnormalities were combined with one or more other abnormal ultrasound indicators, respectively. When combined with increased nuchal translucency, the detection rate of fetal chromosomal abnormalities was 73.2% (71/97), higher than the detection rate when combined with other single indicators (7/16) ( χ2=5.57, P=0.020). (5) Among the 262 cases with negative karyotype analysis and SNP-array results, 241 cases (92.0%) resulted in live births, with a gestational age at delivery of 39 weeks (32-41 weeks); 12 cases (4.6%) resulted in induced labor, five cases (1.9%) resulted in miscarriage, and four cases (1.5%) were lost to follow-up. The live birth rate in the isolated group was higher than that in the non-isolated group [86.9% (213/245) vs. 20.2% (35/173), χ2=187.00, P<0.001]. Conclusions:Fetuses with nasal bone developmental abnormalities in early pregnancy have a higher detection rate of chromosomal abnormalities and CNV. Invasive prenatal diagnosis is recommended for cases of nasal bone developmental abnormalities in early pregnancy, whether isolated or non-isolated. When combined with other abnormal indicators, the genetic etiology of the fetus is more complex, and detailed genetic counseling should be provided to the patient.

Coronavirus-related diseases pose a significant challenge to the global health system. Given the diversity of coronaviruses and the unpredictable nature of disease outbreaks, the traditional "one bug, one drug" paradigm struggles to address the growing number of emerging crises. Therefore, there is an urgent need for therapeutic agents with broad-spectrum anti-coronavirus activity. Here, we provide evidence that ATV006, an anti-SARS-CoV-2 nucleoside analog targeting RNA-dependent RNA polymerase (RdRp), has broad antiviral activity against human and animal coronaviruses. Using mouse hepatitis virus (MHV) and human coronavirus NL63 (HCoV-NL63) as a model, we show that ATV006 has potent prophylactic and therapeutic activity against murine coronavirus infection in vivo. Remarkably, ATV006 successfully inhibits viral replication in mice even when administered 96 h after infection. Due to its oral bioavailability and potency against multiple coronaviruses, ATV006 has the potential to become a useful antiviral agent against SARS-CoV-2 and other circulating and emerging coronaviruses in humans and animals.

Objective:To investigate the genetic causes of fetuses with abnormal nasal bone development in early pregnancy.Methods:A retrospective study was conducted which involved 422 cases of singleton pregnancies with nasal bone development abnormalities indicated by ultrasound screening at 11 to 13 weeks and 6 days of gestation, who underwent chorionic villus sampling for prenatal diagnosis at the Prenatal Diagnosis and Genetic Center, Maternity & Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2015 to May 2023. All cases underwent chromosomal karyotype analysis and single nucleotide polymorphism array (SNP-array) analysis. Based on whether other abnormal ultrasound indicators were present, the cases were divided into isolated (175 cases) and non-isolated groups (247 cases). The results of invasive prenatal diagnosis, distribution of chromosomal abnormalities, detection of copy number variation (CNV) in fetuses with nasal bone development abnormalities, the relationship between maternal age, number of abnormal ultrasound indicators and chromosomal abnormalities, and pregnancy outcomes were analyzed. Statistical analysis was performed using the Chi-square test (continuity correction Chi-square test or Fisher's exact test). Results:(1) Among the 422 cases, 262 cases (62.1%) showed no abnormalities with both detection techniques; 160 cases had abnormalities, including 145 cases (34.4%) had consistent abnormal results and types of abnormalies with the two techniques; two cases (0.5%) had chromosomal translocations detected by karyotype analysis but not by SNP-array analysis; 13 cases (3.1%) had no abnormalities detected by karyotype analysis but had abnormal SNP-array results. This study's overall detection rate of chromosomal abnormalities was 37.9% (160/422), with an additional detection rate of 4.7% (13/275) using SNP-array technology. (2) Among the 160 cases of chromosomal abnormalities, there were 140 cases of aneuploidy, 18 cases of CNV, and two cases of chromosomal translocation. The overall detection rate of chromosomal abnormalities and the detection of aneuploidy, and pathogenic CNV in the non-isolated group was higher than that in the isolated group [74.3% (130/175) vs. 12.1% (30/247), χ2=168.02; 68.0% (119/175) vs. 8.5% (21/247), χ2=163.56; 5.7% (10/175) vs. 0.8% (2/247), χ2=4.74; all P<0.05]. Eighteen cases of CNV were detected using SNP-array technology, including eight cases in the isolated group and ten cases in the non-isolated group. (3) The age of the 422 pregnant women was (33.1±5.4) years. In both isolated and non-isolated groups, the detection rate of chromosomal abnormalities was higher in women of advanced age (expected delivery age ≥35 years) than those not [isolated group: 20.0% (17/85) vs. 8.6% (14/162), χ2=6.55; non-isolated group: 82.1% (69/84) vs. 65.9% (60/91), χ2=5.92; both P=0.010]; regardless of maternal age, the detection rate of chromosomal abnormalities in the non-isolated group was significantly higher than that in the isolated group ( χ2 were 65.28 and 92.42, respectively, both P<0.001). (4) In the non-isolated group, the detection rates of chromosomal abnormalities were 69.0% (78/113) and 83.9% (52/62) when nasal bone abnormalities were combined with one or more other abnormal ultrasound indicators, respectively. When combined with increased nuchal translucency, the detection rate of fetal chromosomal abnormalities was 73.2% (71/97), higher than the detection rate when combined with other single indicators (7/16) ( χ2=5.57, P=0.020). (5) Among the 262 cases with negative karyotype analysis and SNP-array results, 241 cases (92.0%) resulted in live births, with a gestational age at delivery of 39 weeks (32-41 weeks); 12 cases (4.6%) resulted in induced labor, five cases (1.9%) resulted in miscarriage, and four cases (1.5%) were lost to follow-up. The live birth rate in the isolated group was higher than that in the non-isolated group [86.9% (213/245) vs. 20.2% (35/173), χ2=187.00, P<0.001]. Conclusions:Fetuses with nasal bone developmental abnormalities in early pregnancy have a higher detection rate of chromosomal abnormalities and CNV. Invasive prenatal diagnosis is recommended for cases of nasal bone developmental abnormalities in early pregnancy, whether isolated or non-isolated. When combined with other abnormal indicators, the genetic etiology of the fetus is more complex, and detailed genetic counseling should be provided to the patient.

OBJECTIVE: To explore the genetic etiology of 5 cases of monochorionic-diamniotic (MCDA) with genetic discordance. METHODS: 148 cases of MCDA twins who were diagnosed by amniocentesis at the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region from January 2016 to June 2020 were selected as the study subjects. Relevant clinical data of the pregnant women were collected, and amniotic fluid samples of the twins were collected separately. Chromosomal karyotyping analysis and single nucleotide polymorphism array (SNP array) assay were carried out. RESULTS: The results of chromosomal karyotyping analysis showed that 5 of the MCDA twins had inconsistent chromosome karyotypes, with an incidence of 3.4% (5/148). SNP array assay showed that 3 fetuses were mosaics. CONCLUSION Genetic discordance occurs among MCDA twins, and prenatal counseling for such cases should be given by doctors with experience in medical genetics and fetal medicine, and personalized clinical management should be recommended.
Child ; Pregnancy ; Female ; Humans ; China ; Twins/genetics* ; Amniocentesis ; Karyotyping ; Fetus ; Twins, Monozygotic/genetics* ; Ultrasonography, Prenatal ; Retrospective Studies

Objective::The aim of the study was to investigate the pregnancy outcomes and possible influencing factors concerning complicated monochorionic (MC) multiple pregnancies undergoing selective fetal reduction using radiofrequency ablation (RFA).Methods::This retrospective cohort study included 54 women with complicated MC multiple pregnancy who underwent selective fetal reduction using RFA at the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2015 to March 2020. According to the indications for RFA, the 54 women were divided into three groups: complex complications ( n = 30), structural anomalies ( n = 18), and triplet pregnancy ( n = 6). According to the gestational age for RFA, all patients were divided into three groups: 16-19 +6 weeks ( n = 17), 20-23 +6 weeks ( n = 17), and 24-26 +6 weeks ( n = 20). We analyzed the pregnancy outcomes (including the overall survival rate (OSR), gestational age at delivery, birth weight of newborns) and postoperative complications such as miscarriage, and intrauterine fetal death (IUFD) according to the indications and gestational age of reduction by using suitable statistical testing. Results::The OSR was 83.3% (45/54). The mean ± standard deviation ( SD) of gestation at the time of reduction was 21.6 ± 3.2 weeks. The GA at delivery was 34.0(32.0,37.5) weeks. The mean ± SD of newborns’ birth weight was 2118 ± 685 g. The overall rates of miscarriage, PROM, and IUFD were 9.3% (5/54), 7.4% (4/54), and 7.4% (4/54), respectively. According to the indications for reduction, the OSR for complex complications, structural anomalies, and triplet pregnancy groups were 83.3% (25/30), 83.3% (15/18), and 83.3% (5/6), respectively. Statistically significant differences were only found in the mean birth weight among the three groups ( P < 0.05). No significant difference was found in the rate of miscarriage, and mean gestation at delivery among the three groups ( P > 0.05). In the group with complex complications, the OSR of twin-to-twin transfusion syndrome, selective intrauterine growth restriction, twin reversed arterial perfusion sequence, and twin anemia polycythemia sequence were 66.7% (6/9), 93.3% (14/15), 80.0% (4/5), and 100.0% (1/1), respectively, with no significant difference among these groups ( P > 0.05). According to the gestational age of reduction, the OSRs among the three groups were 82.4% (14/17), 76.5% (13/17), and 90.0% (18/20), respectively, and the rate of miscarriage, IUFD, and mean gestation age at delivery among these groups showed no significant difference ( P > 0.05). Conclusion::Selective fetal reduction by RFA is an important treatment method for complicated MC multiple pregnancy, although it may lead to complications like miscarriage, and IUFD. The indication of reduction seems to affect the pregnancy outcome. An optimal treatment plan should be selected according to the patient’s conditions in clinical practice.

Objective::The aim of the study was to investigate the pregnancy outcomes and possible influencing factors concerning complicated monochorionic (MC) multiple pregnancies undergoing selective fetal reduction using radiofrequency ablation (RFA).Methods::This retrospective cohort study included 54 women with complicated MC multiple pregnancy who underwent selective fetal reduction using RFA at the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2015 to March 2020. According to the indications for RFA, the 54 women were divided into three groups: complex complications ( n = 30), structural anomalies ( n = 18), and triplet pregnancy ( n = 6). According to the gestational age for RFA, all patients were divided into three groups: 16-19 +6 weeks ( n = 17), 20-23 +6 weeks ( n = 17), and 24-26 +6 weeks ( n = 20). We analyzed the pregnancy outcomes (including the overall survival rate (OSR), gestational age at delivery, birth weight of newborns) and postoperative complications such as miscarriage, and intrauterine fetal death (IUFD) according to the indications and gestational age of reduction by using suitable statistical testing. Results::The OSR was 83.3% (45/54). The mean ± standard deviation ( SD) of gestation at the time of reduction was 21.6 ± 3.2 weeks. The GA at delivery was 34.0(32.0,37.5) weeks. The mean ± SD of newborns’ birth weight was 2118 ± 685 g. The overall rates of miscarriage, PROM, and IUFD were 9.3% (5/54), 7.4% (4/54), and 7.4% (4/54), respectively. According to the indications for reduction, the OSR for complex complications, structural anomalies, and triplet pregnancy groups were 83.3% (25/30), 83.3% (15/18), and 83.3% (5/6), respectively. Statistically significant differences were only found in the mean birth weight among the three groups ( P < 0.05). No significant difference was found in the rate of miscarriage, and mean gestation at delivery among the three groups ( P > 0.05). In the group with complex complications, the OSR of twin-to-twin transfusion syndrome, selective intrauterine growth restriction, twin reversed arterial perfusion sequence, and twin anemia polycythemia sequence were 66.7% (6/9), 93.3% (14/15), 80.0% (4/5), and 100.0% (1/1), respectively, with no significant difference among these groups ( P > 0.05). According to the gestational age of reduction, the OSRs among the three groups were 82.4% (14/17), 76.5% (13/17), and 90.0% (18/20), respectively, and the rate of miscarriage, IUFD, and mean gestation age at delivery among these groups showed no significant difference ( P > 0.05). Conclusion::Selective fetal reduction by RFA is an important treatment method for complicated MC multiple pregnancy, although it may lead to complications like miscarriage, and IUFD. The indication of reduction seems to affect the pregnancy outcome. An optimal treatment plan should be selected according to the patient’s conditions in clinical practice.

Objective:To explore the genetic background in monochorionic diamniotic (MCDA) twins discordant for karyotypes.Methods:This study retrospectively analyzed four pregnant women who were diagnosed as having MCDA twins with prenatal diagnostic indications by ultrasound at Maternity and Child Health Care of Guangxi Zhuang Autonomous Region from January 2016 to December 2019. Dual amniocentesis was performed for all cases guided by ultrasound and the twin amniotic fluids were taken for karyotyping and single nucleotide polymorphism (SNP) array testing. Zygosity was determined by SNP genotype analysis.Results:The karyotypes of four MCDA twins were 47,XX,+18 and 46,XX, 45,X and 46,XX, 47,XXY[17]/46,XY[33] and 47,XXY, and 47,XX,+21 and 46,XX, respectively. The results of SNP were arr(18)×3 and arr(1-22,X)×2, arr(X)×1 and arr(1-22,X)×2, arr(X)×1~2,(Y)×1 and arr(X)×2,(Y)×1, arr(21)×3 and arr(21)×2~3. All of them were monozygotic twins according to the SNP genotypes. Three out of the four cases chose to terminate the pregnancy due to fetal chromosomal abnormalities and one was lost to follow-up. One gave birth to a healthy child in the next pregnancy.Conclusions:Clinicians should be alert to the discordant karyotypes in MCDA twins, of which the mechanism is yet to be explored.

Objective To explore the relationship of spinal tumors and endocrine gland-derived vascular endothelial growth factor( EG-VEGF) .Methods 77 cases of spinal tumors and 17 cases of vertebral compression fractures were collected.The testing group were grouped according to the pathological type of spinal tumor,the observ-ing group was consisted of vertebral compression fracture cases.The samples of various types of tumors in patients were collected during operation and the positive rate and expression of EG-VEGF mRNA were detected by RT-PCR technique,and the results of each group were statistical analysed.Results The results of relative expression of EG-VEGF mRNA in the unknown primary spinal metastases group,osteosarcoma group and chordoma group were higher, there were no statistically significant difference compared between three groups(all P>0.05).Relative expressions of that in osteoid osteoma group and giant cell tumor group were lower,so was in the observation group,there were no sig-nificant differences in three groups ( all P>0.05);The relative expressions of EG-VEGF mRNA in CUP group, osteosarcoma group and chordoma group were significantly higher than the osteoid osteoma group,with statistical sig-nificance[(0.81 ±0.21),(0.84 ±0.22),(0.79 ±0.41)vs(0.53 ±0.19),t=0.86,0.82,0.81,all P<0.05]. Similar results were also found in EG -VEGF mRNA positive expression rate in three groups.Conclusion EG-VEGF in normal spine spinal vertebrae and primary benign tumor ( osteoid osteoma,giant cell tumor) showed lower expression,which consistent with its tissue specificity,but in primary malignant spinal cancer ( osteosarcoma, chordoma) and unknown primary tumor spinal metastases showed the higher expression, indicating that it may be a measure of an important indicator of spinal cancer, and may play a key role in early diagnosis and treatment of cancer of the spine in the future.

Objective To compare the value of arthroscopic assisted percutaneous internal fixation and open reduction and internal fixation in treatment of tibial plateau fracture.Methods The clinical data of 180 patients of tibial plateau fracture were analyzed retrospectively,including 112 patients of type Ⅱ fracture (group A) and 68 patients of type Ⅲ fracture (group B).The patients in group A and group B were divided into group A1 (56 patients),A2 (56 patients),B 1 (34 patients),B2 (34 patients) respectively according to the odd number and even number of admission date.The patients in group A1 and B1 received open reduction and internal fixation and the patients in group A2 and B2 received arthroscopic assisted percutaneous internal fixation.The postoperative functional recovery was compared and evaluated between the same type of tibial plateau fractures under different treatments.Results In group A1:the postoperative functional recovery,the excellent was 12 patients,the good was 26 patients,the middle good was 12 patients,the bad was 6 patients.The rate of the excellent and the good was 67.9％ (38/56).In group A2:the postoperative functional recovery,the excellent was 19 patients,the good was 34 patients,the middle good was 3 patients.The rate of the excellent and the good was 94.6％(53/56).The rate of the excellent and the good between group A1 and group A2 had significant difference (P ＜ 0.01).After operation for 6 months,the HSS scores of knee joint and degree of flex and extend in group A1 and A2 had significant difference [(73.21 ± 8.32) scores vs.(85.58 ±9.89) scores,(35.6 ±6.6)° vs.(55.1 ±8.8)°] (P ＜0.01).In group B1:the postoperative functional recovery,the excellent was 8 patients,the good was 16 patients,the middle good was 7 patients,the bad was 3 patiens.The rate of the excellent and the good was 70.6％(24/34).In group B2:the postoperative functional recovery,the excellent was 12 patients,the good was 21 patients,the middle good was 1 patient.The rate of the excellent and the good was 97.1％(33/34).The rate of the excellent and the good between group B1 and group B2 had significant difference(P ＜ 0.01).After operation for 6 months,the HSS scores of knee joint and degree of flex and extend in group B1 and B2 had significant difference [(75.32 ± 7.99) scores vs.(86.41 ±10.21) scores,(33.9 ±7.2)° vs.(56.6 ± 10.5)°](P＜0.01).Conclusions The efficacy of arthroscopic assisted percutaneous internal fixation is better than open reduction and internal fixation either in type Ⅱ fracture or in type Ⅲ fracture.This method is mini-invasive and is worthy to spread.