Objective:To explore the clinical significance of chromosome microarray analysis (CMA) in the prenatal detection of DMD gene variants in fetuses without family history during prenatal diagnosis.Methods:A retrospective analysis was conducted on amniotic fluid samples from 12 629 pregnant women who underwent CMA prenatal diagnosis due to high-risk factors at Women and Children′s Hospital Affiliated to Qingdao University between January 2019 and December 2024. Samples with CMA-indicated DMD gene variants were further verified by multiplex ligation-dependent probe amplification (MLPA).Results:(1) Among 12 629 amniotic fluid samples, CMA detected 11 samples with DMD gene deletions or duplications (6 male and 5 female fetuses), which were confirmed by MLPA. (2) All 11 samples with DMD gene variants had no family history of genetic diseases, including 5 deletions and 6 duplications. All of the 5 DMD gene deletions occurred in male fetuses and were all pathogenic, and the pregnant women chose to terminate the pregnancies. Among the 6 DMD gene duplications cases, 1 male fetus was diagnosed as pathogenic and had pregnancy termination; the other 5 duplication cases were female fetuses, in which 1 were pathogenic and 4 were likely pathogenic. They continued pregnancy until delivery, and follow-up showed no DMD-related symptoms. (3) Pedigree analysis revealed that among the 11 samples with DMD gene variants, 3 were de novo mutations, 7 were inherited from mothers, and 1 had an unknown origin.Conclusions:For fetuses without pseudohypertrophic muscalar dystrophy family history but requiring invasive prenatal diagnosis for other reasons, CMA helps to increase the detection of DMD gene variants in fetuses. Testing pregnant women for DMD pathogenic gene carriers could effectively prevent the birth of pseudohypertrophic muscalar dystrophy children.

Objective:To explore the clinical significance of chromosome microarray analysis (CMA) in the prenatal detection of DMD gene variants in fetuses without family history during prenatal diagnosis.Methods:A retrospective analysis was conducted on amniotic fluid samples from 12 629 pregnant women who underwent CMA prenatal diagnosis due to high-risk factors at Women and Children′s Hospital Affiliated to Qingdao University between January 2019 and December 2024. Samples with CMA-indicated DMD gene variants were further verified by multiplex ligation-dependent probe amplification (MLPA).Results:(1) Among 12 629 amniotic fluid samples, CMA detected 11 samples with DMD gene deletions or duplications (6 male and 5 female fetuses), which were confirmed by MLPA. (2) All 11 samples with DMD gene variants had no family history of genetic diseases, including 5 deletions and 6 duplications. All of the 5 DMD gene deletions occurred in male fetuses and were all pathogenic, and the pregnant women chose to terminate the pregnancies. Among the 6 DMD gene duplications cases, 1 male fetus was diagnosed as pathogenic and had pregnancy termination; the other 5 duplication cases were female fetuses, in which 1 were pathogenic and 4 were likely pathogenic. They continued pregnancy until delivery, and follow-up showed no DMD-related symptoms. (3) Pedigree analysis revealed that among the 11 samples with DMD gene variants, 3 were de novo mutations, 7 were inherited from mothers, and 1 had an unknown origin.Conclusions:For fetuses without pseudohypertrophic muscalar dystrophy family history but requiring invasive prenatal diagnosis for other reasons, CMA helps to increase the detection of DMD gene variants in fetuses. Testing pregnant women for DMD pathogenic gene carriers could effectively prevent the birth of pseudohypertrophic muscalar dystrophy children.

Objective:To investigate the professional identity status of nursing students in higher vocational colleges in Shanghai, China, and to analyze the influencing factors.Methods:By cluster sampling, we selected 308 nursing students of grade 2019 from a higher vocational college in Shanghai for a survey with the General Information Questionnaire, Professional Identity Questionnaire for Nurse Students (PIQNS), Stanford Presenteeism Scale-6 (SPS-6), Wong and Law Emotional Intelligence Scale (WLEIS), Workplace Social Capital (WSC), and Nurse Psychological Capital Questionnaire (PCQ). SPSS 22.0 was used for descriptive analysis, the independent samples t-test, one-way analysis of variance, Pearson correlation analysis, and multiple linear regression analysis. Results:The total PIQNS score of the students was (64.93±12.83), the total SPS-6 score was (15.91±4.40), the total WLEIS score was (80.57±15.52), the total WSC score was (32.38±6.33), and the total PCQ score was (95.47±18.63). The PIQNS score was negatively correlated with the SPS-6 score ( r=-0.282, P<0.01), positively correlated with the WLEIS score ( r=0.712, P<0.01), positively correlated with the WSC score ( r=0.659, P<0.01), and positively correlated with the PCQ score ( r=0.681, P<0.01). The multiple linear regression analysis showed that personal interest, emotional intelligence, and psychological capital significantly affected the professional identity of nursing students, entering the regression equation for professional identity. Conclusions:The professional identity of higher vocational nursing students in Shanghai is at a medium level, and personal interest, emotional intelligence, and psychological capital are the main factors influencing professional identity.

Objective:To investigate the difference of condylar bone density,volume and surface area in adult female patients with different vertical skeletal features of skeletal Class Ⅱ.Methods:This study was a retrospective case-control study.150 female patients aged 18-30 years were included as the subjects.Lateral cephalic radiographs were measured and the cases with high angle,average an-gle and low angle of skeletal Class Ⅱ were included and respectively grouped(n=50),the CBCT images were collected,the condyles were reconstructed by Mimics Reseach 20.0 software,the bone density,volume and surface area of the condyles were measured.Univa-riate analysis of variance(ANOVA)was used to compare the difference of condyle measurements among the 3 groups.Results:The overall difference of condylar bone density,volume and surface area among the 3 groups were statistically significant(P＜0.05).Pair-wise comparison showed that the condyle bone mineral density in high angle group was lower than that in average angle group(P＜0.05),in average angle group was lower than that in low angle group(P＜0.05),in high angle group was lower than that in low angle group(P＜0.001).Condyle volume and surface area in high angle group were lower than those in low angle group(P＜0.05),in aver-age angle group was lower than those in low angle group(P＜0.001),in high angle group was lower than those in average angle group(P＞0.05).Conclusion:The condyle bone density,volume and surface area of the different vertical skeletal features of skeletal class Ⅱ in adult female patients are different.

Objective:To analyze the genetic etiology of spontaneous abortion in the first trimester.Methods:This study was a retrospective analysis. The subjects were 815 pregnant women who voluntarily underwent genetic testing of pregnancy miscarriage embryos due to spontaneous abortion or embryonic development arrest in six to thirteen gestational weeks from January 2021 to December 2022. High-throughput sequencing technology was used to detect the abortion tissue, and the results were analyzed by bioinformatics method. Statistical analysis was conducted using the Chi-square test. Results:(1) Chromosomal abnormalities were detected in 525 out of 815 cases (64.4%), including 479 cases (91.2%) of numerical abnormalities (421 cases of aneuploidy and 58 cases of triploidy), 44 cases (8.4%) of structural abnormalities (copy number variation, CNV), and two cases (0.4%) of uniparental disomy. (2) Among the numerical abnormalities, aneuploidy was the most common (87.9%, 421/479), involving all chromosomes except chromosome 1. Trisomy 16 had the highest frequency (17.5%, 84/479), followed by monosomy X (13.4%, 64/479) and trisomy 22 (11.3%, 54/479). Multiple chromosomal abnormalities were present in 27 cases (5.6%). Among the nine cases of autosomal monosomy, there were seven cases of monosomy 21, and one case each of monosomy 18 and monosomy 4. (3) Among the 44 cases of structural abnormalities, 62 pathogenic or possible pathogenic CNVs were identified, with fragment lengths ranging from 1.08 Mb to 103.81 Mb, averaging 19.58 Mb.Chromosome 8 was the most involved in CNV, with 16 cases (25.8%, 16/62), followed by chromosome 4 and 18 with six cases each (9.7%,6/62).Of the 62 CNVs, ten (16.1%) were ≤5 Mb in size, including three cases of microdeletion syndromes.(4) For embryos without autosomal numerical abnormalities indicated by low-depth copy number variation sequencing (CNV-seq) results, quantitative fluorescence polymerase chain reaction verification was performed, detecting two cases of complete uniparental disomy, both of which were paternal uniparental disomy and identified as complete hydatidiform moles. (5) Among the 44 cases where CNV-seq results indicated the presence of CNV in the embryos, 32 cases opted for peripheral blood karyotype analysis, with nine cases (28.1%) identified as carriers of balanced chromosomal translocations in one of the parents. These nine samples all involved variations in two chromosomes, both located at the chromosome ends. For CNV with fragment sizes≤5 Mb, two cases underwent CytoScan 750K array testing, and the chip results were consistent with the CNV-seq sequencing results. (6) Among the 32 couples who underwent peripheral blood karyotype analysis, nine underwent fluorescence in situ hybridization (FISH) testing for chromosomal regions, with six cases showing normal results and three showing abnormalities. The FISH abnormal regions were consistent with the karyotype results. (7) The rate of chromosomal abnormalities in embryos from pregnant women aged≥35 years, as well as the rate of numerical chromosomal abnormalities, were significantly higher than in those aged <35 years [75.8% (182/240) vs. 59.6% (343/575), χ2=23.37; 73.3% (176/240) vs. 53.2% (306/575), χ2=19.34; both P<0.001]. There was no statistically significant difference in the rate of structural chromosomal abnormalities between the two groups. Conclusion:Abnormal chromosome number is the main cause of spontaneous abortion in the first trimester, which is more obvious in pregnant women with abortion age≥35 years. CNV-seq may be more suitable for the detection of spontaneously aborted embryos in the first trimester.

A male child aged two years and six months was admitted to the Affiliated Women and Children′s Hospital of Qingdao University in June 2023 due to wide eye distance, stubby fingers, koilosternia, cryptorchidism, and short tongue frenum. After clinical data collection, whole exome sequencing (WES) was conducted and bio-informatics analysis was performed to search for possible mutation sites on the patient. Family lineage verifications were conducted through Sanger sequencing. WES results showed that the patient carried c.2432dupT frameshift hemizygote variation of the FGD1 gene on the X chromosome (Xq11.22). Sanger sequencing confirmed that the mother was a carrier of the c.2432dupT heterozygous variant but not the father. According to the sequence interpretation guidelines of the American College of Medical Genetics and Genomics (ACMG), this variant is pathogenic (ACMG: PVS+2PP). The patient was diagnosed with Aarskog-Scott syndrome(ASS), which is a rare X-linked disorder characterized by facial, skeletal and genital anomalies. This case study has enriched the variant spectrum of the FGD1 gene and provided guidance for clinical screening and diagnosis of ASS.

Objective:To explore the clinical efficacy of different doses of apatinib combined with chemotherapy in patients with advanced non-small cell lung cancer (NSCLC) and the adverse reactions.Methods:A total of 69 patients with NSCLC diagnosed in the No. 901 Hospital of the Chinese People′s Liberation Army Joint Logistics Support Force were selected from January 2018 to June 2020, and were divided into chemotherapy alone group (docetaxel+ cisplatin was used), apatinib group A [apatinib (0.25 g)+ docetaxel+ cisplatin was used] and apatinib group B [apatinib (0.50 g)+ docetaxel+ cisplatin was used] according to random number table method, with 23 cases in each group. The objective response rate (ORR), disease control rate (DCR), median overall survival (OS), median progression-free survival (PFS), and incidences of adverse reactions were compared between the three groups of patients.Results:One patients in the apatinib group B withdrew from the study due to acute myocardial infarction. After 4 cycless of treatment, the ORR of the patients in the chemotherapy alone group, apatinib group A and apatinib group B were 17.39% (4/23), 47.83% (11/23) and 54.55% (12/22) respectively, with a statistically significant difference ( χ2=7.41, P=0.024). The ORR of the apatinib group B was higher than that of the chemotherapy alone group, with a statistically significant difference ( χ2=6.77, P=0.009). There were no statistically significant differences in ORR between the apatinib group A and chemotherapy alone group, the apatinib group A and apatinib group B ( χ2=4.85, P=0.028; χ2=0.20, P=0.652). The DCR of the patients in the three groups were 47.83% (11/23), 78.26% (18/23) and 86.36% (19/22) respectively, with a statistically significant difference ( χ2=9.03, P=0.011). The DCR of the apatinib group B was higher than that of the chemotherapy alone group, with a statistically significant difference ( χ2=7.52, P=0.006). There were no statistically significant differences in DCR between the apatinib group A and the chemotherapy alone group, the apatinib group A and apatinib group B ( χ2=4.57, P=0.033; χ2=0.51, P=0.477). The median OS of the patients in the three groups were 6.8, 9.2 and 9.9 months respectively, with a statistically significant different ( χ2=8.91, P=0.022). Compared with the chemotherapy alone group, the median OS of the apatinib group A and apatinib group B were significantly prolonged, with statistically significant differences ( χ2=7.25, P=0.036; χ2=8.60, P=0.029). Compared with the apatinib group A, the median OS of the apatinib group B was prolonged, but there was no statistically significant different ( χ2=1.54, P=0.201). The median PFS of the patients in the three groups were 5.2, 7.7 and 8.2 months respectively, with a statistically significant different ( χ2=8.79, P=0.026). Compared with the chemotherapy alone group, the median PFS of the apatinib group A and apatinib group B were significantly prolonged, with statistically significant differences ( χ2=7.01, P=0.039; χ2=8.36, P=0.031). Compared with the apatinib A group, the median PFS of the apatinib group B was prolonged, but there was no statistically significant different ( χ2=1.68, P=0.186). There were statistically significant differences in the incidences of fatigue [34.78% (8/23) vs. 65.22% (15/23) vs. 72.73% (16/22), χ2=7.50, P=0.024], hypertension [4.35% (1/23) vs. 34.78% (8/23) vs. 68.18% (15/22), χ2=20.07, P<0.001], hand-foot syndrome [4.35% (1/23) vs. 43.48% (10/23) vs. 72.73% (16/22), χ2=22.28, P<0.001] and oral mucositis [8.70% (2/23) vs. 39.13% (9/23) vs. 72.73% (16/22), χ2=19.26, P<0.001] among the three groups. Compared with the chemotherapy alone group, the incidences of hypertension and hand-foot syndrome in the apatinib group A and the incidences of fatigue, hypertension, hand-foot syndrome and oral mucositis in the apatinib group B were increased, with statistically significant differences ( χ2=6.77, P=0.009; χ2=9.68, P=0.002; χ2=6.51, P=0.011; χ2=20.00, P<0.001; χ2=22.37, P<0.001; χ2=19.21, P<0.001). Conclusion:Apatinib (0.50 g) combined with chemotherapy has better short-term efficacy than chemotherapy alone in advanced NSCLC. Apatinib (0.25 g) and apatinib (0.50 g) can prolong the survival of patients, but increasing the treatment dose can not achieve longer survival benefit.

Objective:To explore the effect of standardized operation procedure of prone position placement in patients undergoing posterior vertebral pedicle screw system internal fixation.Methods:From May 2019 to May 2021, 98 patients with spinal stenosis who were treated with posterior vertebral pedicle screw system internal fixation in Wuxi Second People's Hospital were selected as the study subject by convenience sampling. The patients were randomly divided into the control group and the observation group with 49 cases in each group. The control group was given routine nursing, and the observation group received standardized operation procedure of prone position placement. The time needed to complete the position placement, the time of position recovery, the incidence of pipeline accidents and the total incidence of pressure injuries were compared between the two groups.Results:After the intervention, the time of position placement and recovery in the observation group were shorter than those in the control group, with statistical differences ( P<0.05) . The incidence of pipeline accidents in the observation group was 2.05%, lower than that in the control group 12.24%; the total incidence of stress injury in the observation group was 6.12%, lower than 18.37% in the control group; but there was no significant difference between the two groups ( P>0.05) . Conclusions:Standardized operation procedure of prone position placement can clarify the division of labor, shorten the prone position placement and recovery time of patients undergoing posterior vertebral pedicle screw system internal fixation, to some extent, it can reduce the risk of pipeline accidents and pressure injuries, and provide safe surgical experience for patients.

[摘 要] 目的：探讨贝伐珠单抗联合多柔比星脂质体治疗铂类耐药复发性卵巢上皮性癌患者的近期疗效和不良反应，并随访生存情况。方法：选取中国人民解放军联勤保障部队第九〇一医院2018年1月至2019年12月收治的76例铂类耐药复发性卵巢上皮性癌患者，采用数字随机分组法分为对照组38例、观察组38例，对照组给予多柔比星脂质体单药化疗4个周期，观察组给予贝伐珠单抗联合多柔比星脂质体化疗4个周期，观察两组患者治疗后近期疗效和不良反应，以及血清肿瘤标志物人附睾蛋白4（human epididymis protein 4，HE4）、糖类抗原125（carbohydrate antigen 125，CA125）变化，并随访总生存期（OS）和无疾病进展生存期（PFS）。结果：对照组患者客观有效率（ORR）为40.54%、疾病控制率（DCR）为67.57%，观察组患者ORR为69.44%、DCR为88.89%，观察组ORR和DCR显著高于对照组（均P<0.05）。治疗后观察组患者血清HE4和CA125分别为（142.67±46.81）pmol/L、（31.79±11.65）U/L，显著低于对照组患者的（219.33±75.67）pmol/L、（57.05±17.85）U/L（均P<0.05）。两组患者的胃肠反应、骨髓抑制、肝肾功能损伤、心脏毒性、过敏反应、血栓栓塞和出血等不良反应相比较差异无统计学意义（均P>0.05）；观察组患者高血压发生率显著高于对照组（P<0.05），但可控、可耐受。观察组患者中位OS 和中位PFS分别分别为17.2个月和10.9个月，显著长于对照组患者的14.1个月和7.8个月（均P<0.05）。结论：对于铂类耐药复发性卵巢上皮性癌患者，贝伐珠单抗联合多柔比星脂质体近期疗效可靠、安全性好、不良反应可耐受，值得临床推广。

Objective To analyze the burden of pneumoconiosis in China through comparison with the United States, Germany and the world based on GBD 2017 data, and to provide references for direction and reform measures for the Pneumoconiosis Prevention and Control Battle and the Occupational Health Protection Action in China. Methods The indexes of disease burden for pneumoconiosis in China, the United States, Germany and the Global level from 1990 to 2017 on the basis of GBD 2017 was obtained, and epidemiological characteristics and trends of pneumoconiosis were analyzed to compare the differences in the disease burden of pneumoconiosis. The main reasons for pneumoconiosis were analyzed, and the strategies for the improvement of prevention and control policies were discussed. Results From 1990 to 2017, the prevalence of pneumoconiosis in China rose from 12.96/100 000 to 20.45/100 000, an increase of 57.79%. The years lived with disability rose from 1.95/100 000 to 3.05/100 000, with an increase of 56.41%. In 2017, the YLL/DALY of China's pneumoconiosis was 82.60%, and the years of life lost caused by premature death was still the main component of China's pneumoconiosis disease burden. In 2017, the standardized DALY rate and standardized YLL rate of occupational exposure to silicon in China accounted for 66.19% and 72.62% of the total burden of environmental occupational factors, respectively, which were higher than the United States (30.24%, 35.06%) and Germany (52.17%, 52.65%) ), as well as the world (50.95%, 54.80%). From 1990 to 2017, the standardized DALY rate of pneumoconiosis in China, the United States, Germany, and the world all showed a downward trend, with a decrease of 51.99%, 37.69%, 58.33%, and 48.20%, respectively. However, in 2017, the standardized DALY rate of China (12.57/100 000) was still higher than the United States (4.10/100 000), Germany (3.45/100 000), and the world (6.32/100 000). Conclusion Until at least 2017, the disease burden of pneumoconiosis in China was still higher than that of the United States, Germany and the world. It is necessary to learn from the experience of countries with better prevention and control effects, strengthen laws and regulations, and focus on dust control to prevent pneumoconiosis.