Objective:To report on a case of mosaicism involving trisomy 21, maternal uniparental isodisomy, and normal diploid cells in uncultured amniocytes, and to explore the discrepancies between conventional cytogenetic and molecular cytogenetic techniques during prenatal diagnosis.Methods:A 30-year-old pregnant woman who presented to Boai Hospital of Zhongshan on June 27, 2023 has undergone amniocentesis at 16 weeks of gestation. The amniotic fluid sample was subjected to quantitative fluorescent PCR (QF-PCR), G-banded karyotype analysis, and chromosomal microarray analysis (CMA). The discrepancies between the results of each method were analyzed. This study was approved by Medical Ethics Committee of Boai Hospital of Zhongshan (Ethics No.: KY-2024-001-01).Results:Non-invasive prenatal testing (NIPT) at 12 weeks indicated a high risk of trisomy 21. QF-PCR of uncultured amniocytes revealed a pattern of trisomy 21. After one week of cell culture, G-banding analysis showed mos 47, XX, + 21[1]/46, XX[72]. CMA revealed a homozygous state of chromosome 21 in cultured cells, while uncultured amniocytes showed mosaic trisomy 21 with an estimated proportion of 50%. These findings suggested a complex chromosomal mosaicism in the fetus, which may result from a trisomy rescue event during early embryogenesis, leading to coexistence of three cell lines including trisomy 21, maternal uniparental isodisomy, and normal diploid cells.Conclusion:In prenatal diagnosis, discrepancies may arise between QF-PCR and conventional chromosomal karyotyping analysis, particularly in complex genetic phenomena such as trisomy rescue and uniparental disomy. For cases where NIPT indicated a high risk of trisomy 21 but G-banding karyotype analysis yielded a normal result, further molecular genetic testing using uncultured cells is recommended.

Osteosarcoma is a highly aggressive malignant bone tumor whose immuno evasion mechanisms play a pivotal role in tumor progression and therapeutic resistance. Recent studies have identified mitochondrial transfer as a novel mode of intercellular communication that significantly influences metabolic reprogramming and immune evasion in osteosarcoma cells. This mechanism operates through three principal pathways: (1) enhancing energy metabolic efficiency in tumor cells; (2) mitigating intracellular oxidative stress; and (3) modulating immune checkpoint molecule expression. Collectively, these alterations impair host immune surveillance while promoting tumor proliferation, invasion, and distant metastasis through metabolic remodeling, immune tolerance induction, and tumor microenvironment reconstruction. This review systematically elucidates the molecular mechanisms by which mitochondrial transfer regulates immune evasion in osteosarcoma and its dynamic impact on the tumor microenvironment. Furthermore, we discuss the translational potential of targeting this pathway for precision therapy and outline future research directions in this emerging field.

OBJECTIVE: To report on a case of mosaicism involving trisomy 21, maternal uniparental isodisomy, and normal diploid cells in uncultured amniocytes, and to explore the discrepancies between conventional cytogenetic and molecular cytogenetic techniques during prenatal diagnosis. METHODS: A 30-year-old pregnant woman who presented to Boai Hospital of Zhongshan on June 27, 2023 has undergone amniocentesis at 16 weeks of gestation. The amniotic fluid sample was subjected to quantitative fluorescent PCR (QF-PCR), G-banded karyotype analysis, and chromosomal microarray analysis (CMA). The discrepancies between the results of each method were analyzed. This study was approved by Medical Ethics Committee of Boai Hospital of Zhongshan (Ethics No.: KY-2024-001-01). RESULTS: Non-invasive prenatal testing (NIPT) at 12 weeks indicated a high risk of trisomy 21. QF-PCR of uncultured amniocytes revealed a pattern of trisomy 21. After one week of cell culture, G-banding analysis showed mos 47,XX,+21[1]/46,XX[72]. CMA revealed a homozygous state of chromosome 21 in cultured cells, while uncultured amniocytes showed mosaic trisomy 21 with an estimated proportion of 50%. These findings suggested a complex chromosomal mosaicism in the fetus, which may result from a trisomy rescue event during early embryogenesis, leading to coexistence of three cell lines including trisomy 21, maternal uniparental isodisomy, and normal diploid cells. CONCLUSION In prenatal diagnosis, discrepancies may arise between QF-PCR and conventional chromosomal karyotyping analysis, particularly in complex genetic phenomena such as trisomy rescue and uniparental disomy. For cases where NIPT indicated a high risk of trisomy 21 but G-banding karyotype analysis yielded a normal result, further molecular genetic testing using uncultured cells is recommended.
Humans ; Female ; Mosaicism ; Pregnancy ; Uniparental Disomy/diagnosis* ; Adult ; Down Syndrome/diagnosis* ; Prenatal Diagnosis/methods* ; Diploidy ; Karyotyping ; Amniocentesis

Objective:To report on a case of mosaicism involving trisomy 21, maternal uniparental isodisomy, and normal diploid cells in uncultured amniocytes, and to explore the discrepancies between conventional cytogenetic and molecular cytogenetic techniques during prenatal diagnosis.Methods:A 30-year-old pregnant woman who presented to Boai Hospital of Zhongshan on June 27, 2023 has undergone amniocentesis at 16 weeks of gestation. The amniotic fluid sample was subjected to quantitative fluorescent PCR (QF-PCR), G-banded karyotype analysis, and chromosomal microarray analysis (CMA). The discrepancies between the results of each method were analyzed. This study was approved by Medical Ethics Committee of Boai Hospital of Zhongshan (Ethics No.: KY-2024-001-01).Results:Non-invasive prenatal testing (NIPT) at 12 weeks indicated a high risk of trisomy 21. QF-PCR of uncultured amniocytes revealed a pattern of trisomy 21. After one week of cell culture, G-banding analysis showed mos 47, XX, + 21[1]/46, XX[72]. CMA revealed a homozygous state of chromosome 21 in cultured cells, while uncultured amniocytes showed mosaic trisomy 21 with an estimated proportion of 50%. These findings suggested a complex chromosomal mosaicism in the fetus, which may result from a trisomy rescue event during early embryogenesis, leading to coexistence of three cell lines including trisomy 21, maternal uniparental isodisomy, and normal diploid cells.Conclusion:In prenatal diagnosis, discrepancies may arise between QF-PCR and conventional chromosomal karyotyping analysis, particularly in complex genetic phenomena such as trisomy rescue and uniparental disomy. For cases where NIPT indicated a high risk of trisomy 21 but G-banding karyotype analysis yielded a normal result, further molecular genetic testing using uncultured cells is recommended.

With the development of medicine, the survival rate of patients with traumatic brain injury has gradually increased, and more lives have been successfully saved. However, the number of comatose patients has also risen, leading to prolonged medical care that increases economic burdens on families and society. The awakening of comatose patients is of great significance. As a non-invasive brain stimulation technique, median nerve electrical stimulation (MNS) has been widely used in clinical awakening therapy, and multiple clinical studies have confirmed the effectiveness of this technology. This article summarizes the research progress of this technology from the aspects of coma mechanism, median nerve pathway, awakening mechanism of MNS, clinical application of MNS, parameter setting of electrical stimulation, and neurological function evaluation.

Objective To investigate the regulatory mechanism of Notch signaling pathway by YAP in non-alcoholic steatohep-atitis(NASH)liver fibrosis,and assess the intervention effect of Cigu Xiaozhi prescription in detoxification and phlegm treatment.Methods C57BL/6J mice were randomly divided into different groups,including a normal group,NASH liver fibrosis model group,verteporfin(VP)intervention group,VP+Chinese medicine(Cigu Xiaozhi prescription)low-dose group,VP+Chinese medicine high-dose group,and dimethyl sulfoxide control group.The methionine/choline-deficient diet combined with low-dose CCl4 was used to construct the NASH liver fibrosis model.The degree of liver fibrosis was evaluated using hematoxylin and eosin(HE)and Masson staining.Four protein factors associated with liver fibrosis were detected using enzyme-linked immunosorbent assay,and hydroxyproline levels in the mouse liver was determined using the alkaline water method.The localization of α-SMA,ColⅠ,YAP,and Notch1 proteins in the liver was determined using immunohistochemistry.Additionally,the mRNA and protein expression levels of the Notch signaling pathway molecules,namely Notch1/2,J agged1,and DLL4,were assessed using real-time quantitative PCR and Western blotting analyses,respectively.Results The HE and Masson staining results revealed that the liver cells of NASH liver fibrosis mice were swollen and the cytoplasm was transparent.Additionally,evident fibrosis was observed in the hepatic lobule,portal area,and sinus;it was accompanied by heightened levels of inflam-matory cell infiltration,a large number of fat droplets,and instances of local hepatocyte necrosis,dissolution,and cirrhosis.The four factors associated with liver fibrosis showed a substantial increase(P<0.01).α-SMA,ColⅠ,YAP,and Notch1 were localized in the cytoplasm of hepatocytes.YAP,Notch1/2,and Jagged1 were highly expressed in the liver(P<0.01)but were downregulated after intervention with VP and VP+high and low doses of Cigu Xiaozhi prescription(P<0.05).Meanwhile,DLL4 factor was upregulated in the VP+high-dose of Cigu Xiaozhi prescription group(P<0.05).Conclusion YAP may inhibit activation of the Notch pathway by downregulating Notch1/2 and Jagged1 and upregulating DLL4,thereby interfering with the occurrence of liver fibrosis in NASH.Treatment with Cigu Xiaozhi pre-scription may inhibit Notch signaling pathway activation by downregulating YAP,Notch1/2,and Jagged1 and upregulating DLL4 through its multi-components and multi-targets properties,ultimately slow the progression of liver fibrosis in NASH.

Objective To monitor the validity of the sample process flow and to improve the detection accuracy of a SARS-CoV-2 antigen by introducing internal reference into SARS-CoV-2 fluorescent lateral flow assay.Methods Silica-core double-layer quantum dots(SiO2-DQD)microspheres were prepared using a polyethyleneimine(PEI)-mediated self-assembly method before being separately conjugated with an internal reference detection antibody and SARS-CoV-2 antibody.Their capture antibodies were plotted on two test lines of the nitrocellulose membrane.Based on double-antibody sandwich detection principles,an internal reference-assisted fluorescent lateral flow assay for SARS-CoV-2 antigen was established.Results According to the readout fluorescent signals,the detection limit of the method for the SARS-CoV-2 antigen reached 0.01 ng/ml with a validated sample process,suggesting its good specificity and stability.Conclusion In this study,a rapid internal reference-integrated fluorescent lateral flow assay for SARS-CoV-2 has been established,which provides control reference for the analysis workflow so that the false-negative rate of the test results can be reduced.

We conducted a prospective study to assess the non-inferiority of adjuvant chemotherapy alone versus adjuvant concurrent chemoradiotherapy (CCRT) as an alternative strategy for patients with early-stage (FIGO 2009 stage IB-IIA) cervical cancer having risk factors after surgery. The condition was assessed in terms of prognosis, adverse effects, and quality of life. This randomized trial involved nine centers across China. Eligible patients were randomized to receive adjuvant chemotherapy or CCRT after surgery. The primary end-point was progression-free survival (PFS). From December 2012 to December 2014, 337 patients were subjected to randomization. Final analysis included 329 patients, including 165 in the adjuvant chemotherapy group and 164 in the adjuvant CCRT group. The median follow-up was 72.1 months. The three-year PFS rates were both 91.9%, and the five-year OS was 90.6% versus 90.0% in adjuvant chemotherapy and CCRT groups, respectively. No significant differences were observed in the PFS or OS between groups. The adjusted HR for PFS was 0.854 (95% confidence interval 0.415-1.757; P = 0.667) favoring adjuvant chemotherapy, excluding the predefined non-inferiority boundary of 1.9. The chemotherapy group showed a tendency toward good quality of life. In comparison with post-operative adjuvant CCRT, adjuvant chemotherapy treatment showed non-inferior efficacy in patients with early-stage cervical cancer having pathological risk factors. Adjuvant chemotherapy alone is a favorable alternative post-operative treatment.
Female ; Humans ; Uterine Cervical Neoplasms/drug therapy* ; Prospective Studies ; Quality of Life ; Neoplasm Staging ; Chemoradiotherapy ; Chemotherapy, Adjuvant/adverse effects* ; Adjuvants, Immunologic ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use* ; Retrospective Studies

Osteoporosis is a chronic skeletal disease characterized by low bone mass， destruction of bone tissue microarchitecture， and imbalance of bone homeostasis， leading to increased bone fragility and increased risk of fractures. Oxidative stress caused by the disruption of the balance between excess reactive oxygen species （ROS） and the anti-oxidative system is an important factor in the occurrence and progression of osteoporosis. Nuclear factor E₂-related factor 2 （Nrf2）/heme oxygenase-1 （HO-1） is an important anti-oxidative stress pathway. Nrf2 is a primary factor in regulating cellular oxidative stress. Activating Nrf2 can stimulate the expression of HO-1. HO-1 is a key enzyme whose metabolites are bile green Oxygen， carbon monoxide， and free iron. The metabolites can scavenge ROS， thereby exerting an antioxidant effect in cells. At present， domestic and foreign scholars have reported that the Nrf2/HO-1 signaling pathway is closely related to the occurrence and development of osteoporosis and the mechanism of drugs. Chinese medicine can effectively solve the insufficiency of western medicine with multi-target， multi-channel， and multi-level advantages. Chinese medicine can resist oxidative stress， inflammatory response， and apoptosis by regulating the Nrf2/HO-1 signaling pathway， thus treating osteoporosis. This article reviewed the relationship between Nrf2/HO-1 signaling pathway and its key target protein factors and osteoporosis， to clarify the important role of the Nrf2/HO-1 signaling pathway in osteoporosis. At the same time， a systematic summary of Chinese medicines targeting and regulating the Nrf2/HO-1 signaling pathway for the treatment of osteoporosis was conducted， to provide a theoretical basis for further precise treatment of osteoporosis.

Objective:To understand the needs, problems and challenges of medical personnel in the hospital for scientific research, propose tailored management measurements and suggestions for the hospital.Methods:The questionnaire was prepared by " Questionnaire Star" , the convenience sampling method was used, and information was collected by WeChat online chat group. Factor analysis and multi-dimensional preference analysis were adopted to analyze information collected.Results:Four main factors that affect the scientific research of medical personnel were identified. The most significant impact is the lack of information platform, followed by the lack of environmental atmosphere, lack of personal capacity and lack of personal interest. The research needs of medical personnel are divided into two categories: one is the more basic skill needs, which are mainly targeted at female, nurses, undergraduates, 5~10 years′ working experiences, medium-grade professional title, and people with no knowledge and experience in research. The other one is the needs of skill improvement, which are mainly targeted at younger, physicians, early career, lower professional titles, and had certain research knowledge.Conclusions:So far, there is a lot of space for improvement. It is recommended to promote the capacity building by training, strengthen the research team building and construct of research communication platform, at the same time, update the scientific research management system.