Objective:To analyze a patient with infertility due to complex chromosome rearrangement by optical genome mapping (OGM).Methods:A female patient who was diagnosed with " primary infertility" at Shenzhen Longhua District Maternal and Child Health Care Hospital in April 2024 was selected as the study subject. Clinical data of the patient was collected. Chromosomal G banding karyotyping analysis was carried out for the patients and her parents, in addition with OGM and copy number variation sequencing (CNV-seq). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2023052504).Results:The patient, a 33-year-old female, had infertility for the past 5 years. OGM revealed formation of two derivative chromosomes through rearrangement of chromosomal 5 and 18. A loss of heterozygosity on chromosome 5 was also detected by OGM and CNV-seq techniques. Both of her parents had a normal karyotype.Conclusion:The OGM technique can refine the position of chromosome breakpoints and determine the direction and position of insertional fragment. Combined with karyotype analysis, the OGM can accurately determine the chromosomal karyotype of the patient and facilitate genetic counseling.

Objective:To explore the effect of home-based online preoperative rehabilitation training on early postoperative recovery in patients with pulmonary nodules.Methods:This study is a randomized controlled study. Fifty patients with pulmonary nodules scheduled for elective surgery in Zhongshan Hospital from January 2023 to September 2023 were randomly divided into the control group and the study group ( n=25 in each group). Patients in the study group carried out home pre-rehabilitation training guided by mobile App before operation, including breathing training, resistance exercise, nutritional intervention and psychological counseling; there was no intervention for patients in the control group while waiting for operation. The lung function, 6-min walking distance, psychological status, nutritional status, postoperative complications, catheterization time, hospitalization time, hospitalization expenses and complications were compared between the two groups before and after operation. Results:There were no significant differences in age, sex, BMI, heart rate, respiratory rate, blood pressure, pulmonary function, nutritional status, location of pulmonary nodules, anesthesia mode, operation modality and surgical pathology results between two groups(all P>0.05). Compared with the control group, the study group had significantly improved forced vital capacity at admission, 1d and 30d after surgery ( Z=-2.338, Z=-2.203, Z=-2.348, all P<0.05), forced expiratory volume in one second (FEV1) ( Z=-3.241, Z=-3.262, Z=-3.564, all P<0.05), and the ratio of forced vital capacity (FVC) to FEV1 ( t=-3.186, t=-2.904, and t=-4.304, all P<0.05), increased 6 min walking distance ( t=-4.466, t=-4.144, t=-4.907, all P<0.05), improved anxiety ( Z=-3.164, Z=-4.425, Z=-3.622, all P<0.05), decreased depression ( Z=-2.598, Z=-3.799, Z=-3.439, all P<0.05); and improved nutritional status at admission and 1d after surgery ( Z=-3.061, Z=-3.648, all P<0.05). The incidence of postoperative complications was decreased ( χ 2=4.878, P<0.05), the time of catheterization was decreased ( Z=-4.056, P<0.001), the length of hospital stay was shortened ( Z=-4.345, P<0.001), and the cost of hospitalization was reduced ( Z=-2.590, P<0.05) in the study group. Conclusion:The home-based online prehabilitation training can effectively improve the cardiopulmonary function and physical fitness of patients, reduce the stress of surgery, and contribute to rapid recovery after surgery; it also can shorten the length of postoperative hospital stay and reduce medical costs.

Objective To establish an electrical field(EF)stimulation model for Schwann cells(SCs),and to provide a basis for exploring the mechanisms of EF stimulation in promoting proliferation,migration and epithelial-to-mesenchymal transition of SCs.Methods A YC-3 bipolar programmable electrical stimulator and an electrotaxis chamber were used to construct an EF stimulation system to stimulate SCs.In the study,SCs were divided into control group(Ctrl)receiving no EF stimulation and EF group stimulated by continuous constant-voltage EF(100 mV/mm,3 h).The effects of EF stimulation on the proliferation and migration of SCs were analyzed using CCK-8 assay,and wound healing assay+Transwell assay,separately;and its effect on SCs adhesion was observed by analyzing the expressions of E-cadherin and N-cadherin using Western Blot.Results The CCK-8 assay results suggested that the absorbance at 450 nm was significantly higher in EF group than in Ctrl group(P<0.05).The results of wound healing assay+Transwell assay revealed that EF group had higher cell migration efficiency than Ctrl group(P<0.05).Western Blot results showed decreased E-cadherin expression and increased N-cadherin expression in EF group as compared with Ctrl group(P<0.05).Conclusion The improved EF stimulation system for SCs is operable.EF stimulation can promote the proliferation and migration of SCs.The decreased E-cadherin expression and increased N-cadherin expression may be related to the occurrence of epithelial-to-mesenchymal transition in SCs after EF stimulation.

Objective:To explore the characteristics of T cells and natural killer (NK) cells in cerebrospinal fluid of patients with multiple sclerosis (MS).Methods:Cerebrospinal fluids from patients with relapsing-remitting multiple sclerosis (RRMS) and healthy controls attending the Second Hospital of Lanzhou University from January 2023 to October 2024 were collected and analyzed by single-cell RNA sequencing (scRNA-seq) and flow cytometry, and T and NK cell characteristics were summarized and compared in the two groups. The proposed time-series analysis was used to explore the differentiation trajectories of T cells and NK cells.Results:A total of 3 patients with RRMS and 3 healthy controls underwent scRNA-seq, and 6 patients with RRMS and 4 healthy controls underwent flow cytometry. The composition of cerebrospinal fluid T and NK cell subtypes was similar in the RRMS group and the healthy control group, but the proportion of the cell subtypes differed. The RRMS group exhibited significantly higher frequencies of CD4 +Naive T- IL7R [1 529/9 055(16.89%) vs 1 423/9 910(14.36%), χ2=22.980, P<0.001], CD4 +Naive T- CCR7 [1 573/9 055(17.37%) vs 948/9 910(9.57%), χ2=250.114, P<0.001], and CD4 +Naive T- LTB [1 369/9 055(15.12%) vs 1 079/9 910(10.89%), χ2=75.336, P<0.001] subsets compared to controls. Conversely, the control group demonstrated greater proportions of CD4 +Th1- GZMA [1 255/9 910(12.66%) vs 719/9 055(7.94%), χ2=113.213, P<0.001] and CD8 +Tem- GZMK cells [1 607/9 910(16.22%) vs 1 232/9 055(13.61%), χ2=25.326, P<0.001] than the RRMS group. The transcription factors and gene expression of each T cell subtype were also different between the 2 groups, and CD4 initial T cells and CD8 effector T cells were located at the beginning and the end of the differentiation trajectory, respectively. Conclusions:The cerebrospinal fluid of MS patients is characterized by increased expression of genes involved in T cell differentiation and over-activation of immune cells.

OBJECTIVE: To analyze a patient with infertility due to complex chromosome rearrangement by optical genome mapping (OGM). METHODS: A female patient who was diagnosed with "primary infertility" at Shenzhen Longhua District Maternal and Child Health Care Hospital in April 2024 was selected as the study subject. Clinical data of the patient was collected. Chromosome G banding karyotyping analysis was carried out for the patient and her parents, in addition with OGM and copy number variation sequencing (CNV-seq). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2023052504). RESULTS: The patient, a 33-year-old female, had infertility for the past 5 years. OGM revealed formation of two derivative chromosomes through rearrangement of chromosomes 5 and 18. A loss of heterozygosity on chromosome 5 was also detected by OGM and CNV-seq techniques. Both of her parents had a normal karyotype. CONCLUSION The OGM technique can refine the position of chromosomal breakpoints and determine the direction and position of insertional fragment. Combined with karyotype analysis, the OGM can accurately determine the chromosomal karyotype of the patient and facilitate genetic counseling.
Humans ; Female ; Adult ; Karyotyping ; DNA Copy Number Variations/genetics* ; Chromosome Mapping/methods* ; Chromosome Aberrations ; Infertility, Female/diagnosis*

Objective To establish an electrical field(EF)stimulation model for Schwann cells(SCs),and to provide a basis for exploring the mechanisms of EF stimulation in promoting proliferation,migration and epithelial-to-mesenchymal transition of SCs.Methods A YC-3 bipolar programmable electrical stimulator and an electrotaxis chamber were used to construct an EF stimulation system to stimulate SCs.In the study,SCs were divided into control group(Ctrl)receiving no EF stimulation and EF group stimulated by continuous constant-voltage EF(100 mV/mm,3 h).The effects of EF stimulation on the proliferation and migration of SCs were analyzed using CCK-8 assay,and wound healing assay+Transwell assay,separately;and its effect on SCs adhesion was observed by analyzing the expressions of E-cadherin and N-cadherin using Western Blot.Results The CCK-8 assay results suggested that the absorbance at 450 nm was significantly higher in EF group than in Ctrl group(P<0.05).The results of wound healing assay+Transwell assay revealed that EF group had higher cell migration efficiency than Ctrl group(P<0.05).Western Blot results showed decreased E-cadherin expression and increased N-cadherin expression in EF group as compared with Ctrl group(P<0.05).Conclusion The improved EF stimulation system for SCs is operable.EF stimulation can promote the proliferation and migration of SCs.The decreased E-cadherin expression and increased N-cadherin expression may be related to the occurrence of epithelial-to-mesenchymal transition in SCs after EF stimulation.

Objective:To analyze a patient with infertility due to complex chromosome rearrangement by optical genome mapping (OGM).Methods:A female patient who was diagnosed with " primary infertility" at Shenzhen Longhua District Maternal and Child Health Care Hospital in April 2024 was selected as the study subject. Clinical data of the patient was collected. Chromosomal G banding karyotyping analysis was carried out for the patients and her parents, in addition with OGM and copy number variation sequencing (CNV-seq). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2023052504).Results:The patient, a 33-year-old female, had infertility for the past 5 years. OGM revealed formation of two derivative chromosomes through rearrangement of chromosomal 5 and 18. A loss of heterozygosity on chromosome 5 was also detected by OGM and CNV-seq techniques. Both of her parents had a normal karyotype.Conclusion:The OGM technique can refine the position of chromosome breakpoints and determine the direction and position of insertional fragment. Combined with karyotype analysis, the OGM can accurately determine the chromosomal karyotype of the patient and facilitate genetic counseling.

Objective:To explore the effect of home-based online preoperative rehabilitation training on early postoperative recovery in patients with pulmonary nodules.Methods:This study is a randomized controlled study. Fifty patients with pulmonary nodules scheduled for elective surgery in Zhongshan Hospital from January 2023 to September 2023 were randomly divided into the control group and the study group ( n=25 in each group). Patients in the study group carried out home pre-rehabilitation training guided by mobile App before operation, including breathing training, resistance exercise, nutritional intervention and psychological counseling; there was no intervention for patients in the control group while waiting for operation. The lung function, 6-min walking distance, psychological status, nutritional status, postoperative complications, catheterization time, hospitalization time, hospitalization expenses and complications were compared between the two groups before and after operation. Results:There were no significant differences in age, sex, BMI, heart rate, respiratory rate, blood pressure, pulmonary function, nutritional status, location of pulmonary nodules, anesthesia mode, operation modality and surgical pathology results between two groups(all P>0.05). Compared with the control group, the study group had significantly improved forced vital capacity at admission, 1d and 30d after surgery ( Z=-2.338, Z=-2.203, Z=-2.348, all P<0.05), forced expiratory volume in one second (FEV1) ( Z=-3.241, Z=-3.262, Z=-3.564, all P<0.05), and the ratio of forced vital capacity (FVC) to FEV1 ( t=-3.186, t=-2.904, and t=-4.304, all P<0.05), increased 6 min walking distance ( t=-4.466, t=-4.144, t=-4.907, all P<0.05), improved anxiety ( Z=-3.164, Z=-4.425, Z=-3.622, all P<0.05), decreased depression ( Z=-2.598, Z=-3.799, Z=-3.439, all P<0.05); and improved nutritional status at admission and 1d after surgery ( Z=-3.061, Z=-3.648, all P<0.05). The incidence of postoperative complications was decreased ( χ 2=4.878, P<0.05), the time of catheterization was decreased ( Z=-4.056, P<0.001), the length of hospital stay was shortened ( Z=-4.345, P<0.001), and the cost of hospitalization was reduced ( Z=-2.590, P<0.05) in the study group. Conclusion:The home-based online prehabilitation training can effectively improve the cardiopulmonary function and physical fitness of patients, reduce the stress of surgery, and contribute to rapid recovery after surgery; it also can shorten the length of postoperative hospital stay and reduce medical costs.

Objective:To explore the characteristics of T cells and natural killer (NK) cells in cerebrospinal fluid of patients with multiple sclerosis (MS).Methods:Cerebrospinal fluids from patients with relapsing-remitting multiple sclerosis (RRMS) and healthy controls attending the Second Hospital of Lanzhou University from January 2023 to October 2024 were collected and analyzed by single-cell RNA sequencing (scRNA-seq) and flow cytometry, and T and NK cell characteristics were summarized and compared in the two groups. The proposed time-series analysis was used to explore the differentiation trajectories of T cells and NK cells.Results:A total of 3 patients with RRMS and 3 healthy controls underwent scRNA-seq, and 6 patients with RRMS and 4 healthy controls underwent flow cytometry. The composition of cerebrospinal fluid T and NK cell subtypes was similar in the RRMS group and the healthy control group, but the proportion of the cell subtypes differed. The RRMS group exhibited significantly higher frequencies of CD4 +Naive T- IL7R [1 529/9 055(16.89%) vs 1 423/9 910(14.36%), χ2=22.980, P<0.001], CD4 +Naive T- CCR7 [1 573/9 055(17.37%) vs 948/9 910(9.57%), χ2=250.114, P<0.001], and CD4 +Naive T- LTB [1 369/9 055(15.12%) vs 1 079/9 910(10.89%), χ2=75.336, P<0.001] subsets compared to controls. Conversely, the control group demonstrated greater proportions of CD4 +Th1- GZMA [1 255/9 910(12.66%) vs 719/9 055(7.94%), χ2=113.213, P<0.001] and CD8 +Tem- GZMK cells [1 607/9 910(16.22%) vs 1 232/9 055(13.61%), χ2=25.326, P<0.001] than the RRMS group. The transcription factors and gene expression of each T cell subtype were also different between the 2 groups, and CD4 initial T cells and CD8 effector T cells were located at the beginning and the end of the differentiation trajectory, respectively. Conclusions:The cerebrospinal fluid of MS patients is characterized by increased expression of genes involved in T cell differentiation and over-activation of immune cells.

Objective To assess the application value of sequential non-invasive prenatal testing(NIPT)for pregnant women with abnormal single values of early Down's screening.Methods A total of 1 631 pregnant women with abnormal single values of traditional early Down's screening were selected from Shenzhen Long-hua Maternal and Child Health Hospital from January to October in 2022,and all of them voluntarily under-went NIPT with signed informed consent.The high-risk samples screned by NIPT wre conducted invasive prenatal diagnosis and tracked pregnancy outcomes,and yet low-risk pregnant women was followed up after the due date.Results Among all the pregnant women,a total of 10 high-risk samples of fetal chromosomal aneuploidy were detected by sequential NIPT,including 1 case of trisomy 21,1 case of trisomy 18,7 cases of sex chromosome abnormalities,and 1 case of other autosomal abnormalities.9 cases of high-risk pregnant women received invasive prenatal diagnosis,and 5 cases were consistent with NIPT results,which had yielded a positive predictive value of 55.56％.Among them,the positive predictive values of trisomy 21,trisomy 18,sex chromosome abnormalities and other autosomal abnormalities were 100.00％,100.00％,50.00％,0.00％,resepectively.Conclusion Sequential NIPT could improve the detection of defective children in pregnant women with abnormal single values of early Down's screening,which has certain guiding value for expanding screening to reduce the birth of defective children.In view of its low positive predictive value,pregnant women with abnormal single value of Down's screening should be paid more attention,and further prenatal diagnosis may be necessary to reduce the birth rate of defective children.