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 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 investigate the inhibitory effects of spermidine(SPD)on inflammatory osteolysis both in vivo and in vitro.Methods·The CCK-8 assay was used to assess the viability of RAW264.7 macrophages treated with various concentrations of SPD.The levels of intracellular reactive oxygen species(ROS)in lipopolysaccharide(LPS)-activated RAW264.7 cells were evaluated by staining with dichlorodihydrofluorescein diacetate(DCFH-DA)and dihydroethidium(DHE),respectively.Reverse transcription real-time fluorescence quantitative PCR(RT-qPCR)was utilized to determine the effects of SPD on the expression of pro-inflammatory genes in LPS-activated RAW264.7 cells.Tartrate-resistant acid phosphatase(TRAP)staining was used to evaluate the effect of SPD on the differentiation of mouse primary bone marrow-derived macrophages(BMMs)into osteoclasts.RT-qPCR was employed to further analyze the effect of SPD on the expression of genes related to osteoclast differentiation and functions after BMM-induced differentiation.An LPS-induced mouse calvarial osteolysis model was constructed,and the therapeutic efficacy of SPD on inflammatory osteolysis was assessed using Micro-CT analysis,hematoxylin-eosin(H-E)staining and TRAP staining of histological sections.Results·The CCK-8 assay showed that SPD,even at a concentration of 1 000 μmol/L,exhibited no significant cytotoxicity to RAW264.7 cells.ROS analysis revealed that SPD markedly inhibited LPS-induced elevation of intracellular ROS levels in macrophages.RT-qPCR results indicated that SPD suppressed the expression of pro-inflammatory genes induced by LPS.Both TRAP staining and RT-qPCR demonstrated that SPD effectively inhibited the differentiation of BMMs into osteoclasts induced by receptor activator of nuclear factor-κB ligand(RANKL)and reduced the expression of genes associated with osteoclast differentiation and function.In the mouse calvarial osteolysis model,Micro-CT analysis showed that the bone volume fraction and bone mineral density in the SPD-treated groups were significantly higher than those in the LPS group.Histological staining revealed that SPD treatment reduced inflammatory cell infiltration,decreased osteoclast numbers,and alleviated tissue damage.Conclusion·SPD inhibits macrophage inflammatory responses and RANKL-induced osteoclast differentiation in vitro;in vivo,it alleviates LPS-induced inflammatory calvarial osteolysis in mice.

Objective·To investigate the inhibitory effects of spermidine(SPD)on inflammatory osteolysis both in vivo and in vitro.Methods·The CCK-8 assay was used to assess the viability of RAW264.7 macrophages treated with various concentrations of SPD.The levels of intracellular reactive oxygen species(ROS)in lipopolysaccharide(LPS)-activated RAW264.7 cells were evaluated by staining with dichlorodihydrofluorescein diacetate(DCFH-DA)and dihydroethidium(DHE),respectively.Reverse transcription real-time fluorescence quantitative PCR(RT-qPCR)was utilized to determine the effects of SPD on the expression of pro-inflammatory genes in LPS-activated RAW264.7 cells.Tartrate-resistant acid phosphatase(TRAP)staining was used to evaluate the effect of SPD on the differentiation of mouse primary bone marrow-derived macrophages(BMMs)into osteoclasts.RT-qPCR was employed to further analyze the effect of SPD on the expression of genes related to osteoclast differentiation and functions after BMM-induced differentiation.An LPS-induced mouse calvarial osteolysis model was constructed,and the therapeutic efficacy of SPD on inflammatory osteolysis was assessed using Micro-CT analysis,hematoxylin-eosin(H-E)staining and TRAP staining of histological sections.Results·The CCK-8 assay showed that SPD,even at a concentration of 1 000 μmol/L,exhibited no significant cytotoxicity to RAW264.7 cells.ROS analysis revealed that SPD markedly inhibited LPS-induced elevation of intracellular ROS levels in macrophages.RT-qPCR results indicated that SPD suppressed the expression of pro-inflammatory genes induced by LPS.Both TRAP staining and RT-qPCR demonstrated that SPD effectively inhibited the differentiation of BMMs into osteoclasts induced by receptor activator of nuclear factor-κB ligand(RANKL)and reduced the expression of genes associated with osteoclast differentiation and function.In the mouse calvarial osteolysis model,Micro-CT analysis showed that the bone volume fraction and bone mineral density in the SPD-treated groups were significantly higher than those in the LPS group.Histological staining revealed that SPD treatment reduced inflammatory cell infiltration,decreased osteoclast numbers,and alleviated tissue damage.Conclusion·SPD inhibits macrophage inflammatory responses and RANKL-induced osteoclast differentiation in vitro;in vivo,it alleviates LPS-induced inflammatory calvarial osteolysis in mice.

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 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.

Objective:To explore the genetic basis for a child with developmental delay and intellectual deficit (DD/ID).Methods:A child who was admitted to the Maternal and Child Health Care Hospital of Longhua District of Shenzhen City on June 3, 2023 due to DD/ID, craniofacial malformations, and recurrent infections of upper respiratory tract was selected as the study subject. G-banded chromosomal karyotyping was carried out for the child and her parents. Low-depth genome-wide copy number variation sequencing (CNV-seq) and chromosomal microarray analysis (CMA) were used to screen for genome-wide copy number variation (CNV), and fluorescence in situ hybridization (FISH) was used to verify the origin of candidate CNV. This study was approved by the Maternal and Child Health Care Hospital of Longhua District of Shenzhen City(Ethics No. 2023052504). Results:The child, an 8-year-old girl, had featured unexplained growth and intellectual development delay, multiple craniofacial malformations, and recurrent infections of the upper respiratory tract. She was found to have a karyotype of 46, XX, der(6)add(6)(q23), while both of her parents were normal. Both CNV-seq and CMA showed that the child has harbored a 21.38 Mb interstitial duplication at 6p25.3p22.3 and a 0.78 Mb terminal deletion at 6p25. FISH verified that both the duplication and deletion had occurred de novo. Conclusion:The abnormal phenotype of the child may be attributed to the 6p duplication and terminal deletion.

Replacement of the temporomandibular joint (RTJ) has undergone decades of technological improvements and is now an important treatment for end-stage temporomandibular joint (TMJ) disease. The main complications of RTJ include aseptic loosening, heterotopic ossification, postsurgical infection, hypersensitivity reaction, prosthesis loosening or malposition, nerve injury and severe bleeding. Improvement in clinical technique is now the key to resolving complications. In the future, improvements in prosthetic materials may be an important development for newer iterations. With the development and popularity of TMJ surgical techniques, prosthesis-related complications will increasingly come into clinical view. This article provides a systematic review of the complications of RTJ prosthesis replacement and the measures to deal with them, and looks forward to the direction of the development of this field from the perspective of reducing complications, so as to provide a reference for clinical work.

Objective To retrospectively study the prognostic impact of paraneoplastic erythrocytosis (PE) on patients with hepatocellular carcinoma (HCC) after liver resection.Methods 713 patients with HCC who underwent partial hepatic resection in The Affiliated Cancer Hospital of Guangxi Medical University were divided into two groups:the PE group (n =81) and the non-PE group (n =632).The overall survival between the two groups were compared after reducing confounding bias by using propensity score matching (PSM).Independent prognostic predictors were determined by the Cox proportional hazards model.Results 80 pairs of patients were matched using PSM.In the matched cohort,the PE group exhibited significantly longer overall survival (OS) compared to the NPE group of patients without erythrocytosis.The 1-,3-,and 5-year overall survival rates were 88.6％,74.2％,69.0％ in the PE group,and 91.0％,60.1％,41.6％ in the non-PE group,respectively (P ＜ 0.05).Using the log-rank test,tumor size ≥ 10cm,macrovascular invasion,Barcelona Clinic Liver Cancer (BCLC) stage C,PE and complete tumor encapsulation were significantly associated with OS in patients with HCC after liver resection.The Cox regression analysis indicated that tumor size ≥ 10 cm,and Barcelona Clinic Liver Cancer (BCLC) stage C were independent prognostic factors of poor prognosis,while complete tumor encapsulation and paraneoplastic erythrocytosis were independent predictors of good prognosis.Conclusions For patients with HCC who underwent surgical resection,patients with PE had better prognosis than those without PE under the condition of similar tumor burden.PE was an independent predictor of good prognosis.