Objective To explore the feasibility of using cell-free DNA(cfDNA)in blastocyst fluid for preimplantation embryo aneuploidy.Methods A total of 17 patients undergoing assisted reproductive technology at Taizhou Hospital of Zhejiang from 2023 to 2024.A total of 38 discarded blastocysts were collected.Whole-genome amplification and next-generation sequencing were performed on both blastocyst fluid cfDNA and trophoblast cells.Using the trophoblast cells as reference,the amplification success rates of blastocyst fluid cfDNA were compared.The consistency,specificity,and sensitivity of the detection results were evaluated.Results The success rate of cfDNA amplification in the blastocyst fluid was 78.95％,and that of the trophoblast cells was 90.61％,with a consistency of 57.1％.The sensitivity of cfDNA amplification in the blastocyst fluid was 100％,the specificity was 66.7％,the positive likelihood ratio was 3,and the negative likelihood ratio was 0.Conclusion Blastocyst fluid cfDNA screening can be used as a screening method to exclude chromosomal embryos aneuploidy and can be used for preimplantation embryo selection.

Objective To explore the feasibility of using cell-free DNA(cfDNA)in blastocyst fluid for preimplantation embryo aneuploidy.Methods A total of 17 patients undergoing assisted reproductive technology at Taizhou Hospital of Zhejiang from 2023 to 2024.A total of 38 discarded blastocysts were collected.Whole-genome amplification and next-generation sequencing were performed on both blastocyst fluid cfDNA and trophoblast cells.Using the trophoblast cells as reference,the amplification success rates of blastocyst fluid cfDNA were compared.The consistency,specificity,and sensitivity of the detection results were evaluated.Results The success rate of cfDNA amplification in the blastocyst fluid was 78.95％,and that of the trophoblast cells was 90.61％,with a consistency of 57.1％.The sensitivity of cfDNA amplification in the blastocyst fluid was 100％,the specificity was 66.7％,the positive likelihood ratio was 3,and the negative likelihood ratio was 0.Conclusion Blastocyst fluid cfDNA screening can be used as a screening method to exclude chromosomal embryos aneuploidy and can be used for preimplantation embryo selection.

Objective:To investigate the correlations between serum 25-hydroxy vitamin D, interleukin-23 (IL-23), coagulation function indicators, and the severity of rheumatoid arthritis (RA) and treatment effect.Methods:A total of 56 patients with RA who received treatment at Xianyang Central Hospital between February 2019 and January 2023 were included in the RA group, and an additional 56 healthy participants who concurrently underwent physical examination in the same hospital were included in the control group. Serum levels of 25(OH)D, IL-23, and coagulation function indicators were measured in both groups. The severity of RA was evaluated using the Disease Activity Score in 28 Joints (DAS28). The treatment outcomes were assessed based on post-treatment DAS28 scores. Significant differences in serum 25(OH)D, IL-23, and coagulation function indicators were compared among patients with different degrees of disease severity and treatment outcomes. Furthermore, a thorough analysis was conducted to identify risk factors associated with treatment failure in RA patients.Results:The serum 25(OH)D level in the RA group was significantly lower than that in the control group [(21.63 ± 2.29) μg/L vs. (33.06 ± 3.82) μg/L, t = 19.21, P < 0.05]. Prothrombin time (PT), activated partial thromboplastin time (APTT), IL-23, and fibrinogen (FIB) were significantly higher in the RA group [(46.68 ± 5.01) ng/L, (36.85 ± 3.79) seconds, (16.81 ± 1.73) seconds, (5.46 ± 0.58) g/L] compared with the control group ( t = -36.88, -6.19, -11.20, -11.93, all P < 0.05). The serum 25(OH)D levels decreased significantly, with the highest levels observed in the stable group [(30.91 ± 3.12) μg/L], followed by the low activity group [(24.14 ± 2.56) μg/L], the medium activity group [(18.69 ± 1.93) μg/L], and the lowest levels in the high activity group [(15.62 ± 1.63) μg/L, F = 107.90, P < 0.05]. PT, APTT, IL-23 and FIB levels decreased significantly, with the longest periods or highest levels observed in the high activity group [(58.08 ± 6.03) ng/L, (39.92 ± 4.08) seconds, (18.83 ± 2.01) seconds, (6.19 ± 0.63) g/L, F = 72.18, P < 0.05], followed by the medium activity group [(51.25 ± 5.27) ng/L, (37.74 ± 3.91) seconds, (17.15 ± 1.82) seconds, (5.74 ± 0.59) g/L, F = 4.98, P < 0.05], the low activity group [(41.82 ± 4.63) ng/L, (35.41 ± 3.75) seconds, (16.24 ± 1.71) seconds, (5.07 ± 0.54) g/L, F = 14.26, P < 0.05], and the lowest periods or lowest levels in the stable group [(30.67 ± 3.17) ng/L, (33.19 ± 3.42) seconds, (14.29 ± 1.51) seconds, (4.56 ± 0.51) g/L, F = 20.48, P < 0.05]. Serum 25(OH)D level was significantly lower in the treatment failure group than that in the effective treatment group [(18.90 ± 1.97) μg/L vs. (22.63 ± 2.34) μg/L, t = 5.49, P < 0.05]. PT, APTT, IL-23, and FIB in the treatment failure group were significantly higher than those in the effective treatment group [(55.21 ± 5.71) g/L, (40.62 ± 4.17) seconds, (18.56 ± 1.93) seconds, (6.33 ± 0.69) g/L, t = -7.62, -4.48, -4.46, -6.24, all P < 0.05]. IL-23, FIB, PT, and APTT were identified as independent risk factors for treatment failure in RA patients ( OR > 1, P < 0.05), whereas 25(OH)D emerged as a protective factor against treatment failure ( OR < 1, P < 0.05). Conclusion:Significant differences in serum 25(OH)D, IL-23, and coagulation function indicators were observed between RA patients and healthy individuals. These indicators were also closely associated with the severity and treatment outcomes of RA. Therefore, they can be used to assess the disease status and treatment outcomes of RA patients.

Radiotherapy is an important treatment of gynecological tumors. Although novel techniques or measures in recemy years have improved the tumor control rate and reduced radiation toxicity, radiation toxicity remains a major problem due to the location of some key organs adjacent to the tumor. A new material-hydrogel, as an organ spacer, provides a new method to reduce the radiotherapy toxicity. In this article, the application of hydrogel as an organ spacer in brachytherapy for gynecological tumors was reviewed from the aspects of hydrogel characteristics, suitable population, mode of injection, interval distance and dose effect, clinical benefits and cost effectiveness, etc.

OBJECTIVE: To explore the genetic basis for a fetus with club foot detected upon mid-pregnancy ultrasonography. METHODS: Amniotic fluid of the fetus and peripheral blood samples of its parents were collected and subjected to G-banding karyotype analysis and copy number variation sequencing (CNV-seq). The result was verified by fluorescence in situ hybridization (FISH). RESULTS: The fetus and its parents all had a normal karyotype. CNV-seq analysis revealed that the fetus has harbored a 23.12 Mb on chromosome 5 and a 21.46 Mb duplication on chromosome 7. FISH assay has verified that its mother has carried a cryptic t(5;7)(p14.3;q33) translocation. CONCLUSION CNV-seq combined with FISH can effectively detect cryptic chromosome aberrations, and can help to reduce severe birth defects and provide a basis for prenatal genetic counseling.
Pregnancy ; Female ; Humans ; Cri-du-Chat Syndrome ; In Situ Hybridization, Fluorescence ; DNA Copy Number Variations ; Prenatal Diagnosis ; Fetus ; Amniotic Fluid ; Chromosome Deletion

Objective:To investigate the current status of hospitalized neonatal death of different gestational ages in Shaanxi Province.Methods:All neonatal deaths in six hospitals in Shaanxi Province from 2016 to 2020 were retrospectively analyzed, and the differences in perinatal complications, the causes of death, and the age at death were compared using Chi-square (or Fisher's exact ) test. Results:(1) Totally, 220 488 neonates were delivered in the obstetric department of the six hospitals during the study period; 71 782 out of them were admitted to the neonatal department. While 424 neonatal death was reported, giving the total hospitalized neonates mortality rate of 5.5‰ (394/71 782), which included 152 deaths of transferred patients ( n=9 103, 16.7‰), 226 premature (53.3%), 196 term (46.2%), and two post-term infants (0.5%). (2) Among mothers of dead neonates, 73.6% were found to have at least one perinatal complication. The most common one was fetal distress (146 cases, 34.4%), followed by gestational diabetes mellitus (113 cases, 26.7%), amniotic fluid abnormalities ( n=73, 17.2%), maternal infectious diseases ( n=71, 16.8%), and hypertensive disorders in pregnancy (HDP) ( n=52, 12.3%). The lower the gestational age, the higher the proportion of multiple pregnancies and assisted reproduction technology applied (Fisher exact test, P<0.05). On the contrary, the higher the gestational age, the higher the cesarean section rate ( χ 2=26.69, P<0.001). HDP was more likely to occur in the gestational age of 28-31 +6 and 32-34 +6 weeks ( χ 2=37.16, P<0.001), and amniotic fluid abnormalities were more likely to occur in those over 37 weeks ( χ 2=27.47, P<0.001). (3) The five leading causes of neonatal death were neonatal respiratory distress syndrome (NRDS, n=100, 23.6%), neonatal asphyxia ( n=88, 20.8%), maternal infectious diseases ( n=80, 18.9%), and birth defects ( n=54, 12.7%), and pulmonary hemorrhage ( n=22, 5.2%). The first three causes of death in term and post-term infants were neonatal asphyxia ( n=65, 32.8%), birth defects ( n=42, 21.2%), and infectious diseases ( n=26, 13.1%). NRDS ( n=83, 36.7%), infectious diseases ( n=54, 23.9%), and neonatal asphyxia ( n=23, 10.2%) were the three leading causes of death of premature babies. (4) Out of the 326 (76.9%) neonatal deaths within seven days after birth, 162 (38.2%) died within 24 h after birth and 164 cases (38.7%) between one to seven days after birth. Conclusions:Most neonatal deaths occurred among preterm ones and within seven days after birth, whose mothers suffered perinatal complications. The causes of neonatal death vary among different gestational age groups.

Glioblastoma multiforme (GBM) in the central nervous system is the most lethal advanced glioma and currently there is no effective treatment for it. Studies of sinomenine, an alkaloid from the Chinese medicinal plant,

Objective:To investigate the sensitivity of the Catalyst HD in monitoring different skin colors, and assess the effect of skin color on the setup uncertainties using this system in radiotherapy.Methods:The standard cards guiding skin color and the cylinder model guiding quality control in radiotherapy were utilized to simulate the patients’ positioning. During the first monitoring, Catalyst HD was employed to acquire the image of the phantom as the reference image after conventional positioning (indoor laser+ phantom marking). When it was not the first monitoring, the couch was moved (-5 to 5 mm, step length of 2 mm) and Catalyst HD was adopted to obtain the surface image after conventional positioning. The bed deviation and corresponding setup errors monitored by Catalyst HD for different skin colors were recorded in the anterior-posterior (AP), superior-inferior (SI) and left-right (LR) direction, respectively.Results:During Catalyst HD monitoring, the integration time and gain were increased with the darker color. The logarithm of integration time and gain was significantly linearly negatively correlated with the same color ( R2>0.9). When the color difference with 1Y01SP was ΔE≤189, there was a significant correlation between the bed deviation and corresponding setup errors monitored by Catalyst HD in the SI and LR directions (R SI>0.5, R LR>0.5, R AP>0.9). The Catalyst HD monitoring was rapid and stable. When 218≤ΔE≤253, the correlation coefficients of them in the LR were R LR<0.3 and the Catalyst HD monitoring was stable. When 254≤ΔE≤285, the Catalyst HD failed to monitor stably. When ΔE>318, it failed to monitor this skin color. Conclusions:Gain, integration time and color have a certain correlation. The Catalyst HD can accurately monitor the setup errors within a specific range of skin color.

Objective:To compare the detection rate of genital Chlamydia trachomatis (CT) DNA between urine and urethral/cervical swab samples. Methods:From December 2018 to December 2019, a total of 1 475 outpatients were collected from sexually transmitted disease clinics in 7 medical institutions, such as Department of Venereology, Guangzhou Institute of Dermatology, including 1 118 males and 357 females. One urethral/cervical swab sample and one urine sample were collected successively from each patient. Real-time fluorescence-based PCR was performed to detect CT DNA in urine and urethral/cervical swab samples, and paired chi-square test was used to compare the positive rate of CT DNA between the 2 kinds of samples. Random- or fixed-effect meta-analysis was conducted for the test of heterogeneity and merging of positive rates of CT DNA in the urine and urethral/cervical swabs among 7 medical institutions.Results:The positive rate of CT DNA in the urine samples was significantly higher than that in the swab samples from 4 medical institutions (all P < 0.05) , while there was no significant difference in the positive rate of CT DNA between the 2 kinds of samples from 3 medical institutions (all P > 0.05) . The heterogeneity ( I2) estimates of the CT-DNA positive rate in urine and swab samples among different medical institutions were 78.6% (95% CI: 55.9% - 89.6%) and 73.7% (95% CI: 43.7% - 87.7%) , respectively; meta-analysis showed that the total merged positive rate of CT DNA in the urine samples was 10.8% (95% CI: 7.2% - 15.9%) , which was significantly higher than that in the swab samples (7.8%, 95% CI: 4.9% - 12.1%; χ2 = 39.2, P < 0.05) . Compared with the swab sample-based CT-DNA detection method, the sensitivity, specificity, positive predictive value, negative predictive value and consistency rate of the urine sample-based CT-DNA detection method were 97.0% (128/132) , 96.3% (1 293/1 343) , 71.9% (128/178) , 99.7% (1 293/1 297) , and 96.3% (1 421/1 475) , respectively. The positive rate of CT DNA in the urine samples from 1 118 male patients was 11.0% (95% CI: 7.2% - 16.5%) , which was significantly higher than that in the swab samples (7.6%, 95% CI: 4.9% - 11.8%; χ2 = 34.3, P < 0.05) . There was no significant difference in the positive rate of CT DNA between the urine (11.9%, 95% CI: 7.7% - 17.9%) and cervical swab samples from 357 female patients (10.4%, 95% CI: 7.6% - 14.0%; χ2 = 3.2, P > 0.05) . Conclusions:The positive rate of CT DNA in urine samples is higher than or similar to that in urethral/cervical swab samples. The urine sample-based CT-DNA detection method has characteristics of convenience, non-invasiveness, painlessness and low cost, and is worthy of clinical promotion.

Objective: To investigate the correlation between skin elasticity and setup error in optical surface image-guided radiotherapy. Methods: The skin elasticity (R7) data of the head, chest and abdomen were extracted and analyzed its correlation with age by systematic literature review. Fifty-four patients diagnosed with nasopharyngeal carcinoma, breast cancer and cervical cancer were recruited in this study. Firstly, the patients were positioned based on the room laser and markers. Subsequently, the patient position was verified by the Varian On-Board Imager, and then C-Rad Catalyst was adopted to obtain surface images in two states (mask or non-mask) as reference images. In the subsequent fraction treatment, after initial positioning, the local calibration was performed by Catalyst, and setup errors in three directions were recorded. Meanwhile, the patient setup was verified by CBCT twice a week. The Pearson correlation analysis was performed to analyze the correlation between setup error and age. Results: The skin elasticity was negatively correlated with aging (P<0.01). The correlation coefficient between random error and age in head-and-neck cancer were 0.645, 0.624 and 0.866 in the AP, SI and LR directions (all P<0.05) for male patients without mask, respectively. The system error was significantly correlated with age in the LR direction (P<0.05) for male patients, and in the AP direction (P<0.05) for female patients with head-and-neck cancer without mask. The setup error had a significant correlation with skin elasticity in male patients with head-and-neck cancer, and the sequence of absolute value of correlation coefficient was LR>SI>AP. Conclusion In optical surface-guided radiotherapy of head and neck cancer, skin elasticity may be a significant index for assessing the setup errors in male patients.