1.Establishment and preliminary evaluation of a non-invasive fetal M blood group genotyping method by real-time PCR
Shuangshuang JIA ; Chunyan MO ; Ling WEI ; Jizhi WEN ; Runqing ZHANG ; Yanli JI
Chinese Journal of Blood Transfusion 2026;39(4):493-500
Objective: To establish a method for the genotyping of fetal M blood group antigen by extracting cell-free fetal DNA (cff-DNA) from maternal plasma, so as to guide the management of M antigen-negative pregnant women with IgG anti-M antibody during pregnancy. Methods: A realtime fluorescent quantitative PCR (realtime PCR) method was established. The specificity and sensitivity of the method were validated by dilution of genomic DNA. Subsequently, a total of 12 M antigen-negative pregnant women were enrolled. The cff-DNA was extracted from maternal plasma, and fetal M antigen genotyping was performed by realtime PCR. Fetuses were classified as M-positive or M-negative according to the presence or absence of amplification curve. The accuracy of the method was validated by comparing fetal M antigen genotyping results with the serological results using the cord or peripheral blood of the neonate at birth. Results: Among the 12 M antigen-negative pregnant women, anti-M was detected in five cases, of which four cases had IgG anti-M, and one case had fetal anemia. The results of fetal M antigen genotyping showed that 9 cases were M-positive (9/12, 75%) and 3 cases were M-negative (3/12, 25%). Serological results of blood samples collected after birth from four M-positive fetuses and one M-negative fetus were consistent with the genotyping results. Conclusion: We have, for the first time, established a non-invasive prenatal genotyping method for fetal M antigen using maternal plasma cff-DNA, and preliminarily demonstrated the feasibility of this method.
2.Clinical characteristics of 9 cases of Talaromyces marneffei infection and its early rapid diagnosis using third-generation nanopore sequencing technology
Chunyan ZHAO ; Chang SONG ; Aichun HUANG ; Chaoyan XU ; Xiaoying WEI ; Chunmei ZENG ; Qingdong ZHU
Chinese Journal of Nosocomiology 2025;35(15):2288-2292
OBJECTIVE To evaluate the potential of nanopore sequencing technology for rapid diagnosis of Talaro-myces marneffei(TM)infection.METHODS Nine patients with TM infection admitted to the Fourth People's Hospital of Nanning from May 13,2022 to Aug.3,2023 were retrospectively analyzed.Rapid diagnosis was con-ducted by nanopore sequencing technology,and a comprehensive analysis of their clinical characteristics and treat-ment processes was performed.RESULTS The 9 patients included in the study had infections in various sites such as the lungs,buttocks,blood and cervical lymph nodes.Comorbidities included AIDS,secondary pulmonary tuberculosis,non-tuberculous mycobacterial disease and adult-onset immune deficiency.Patients generally exhibited elevated C-reactive protein levels and erythrocyte sedimentation rates,along with increased neutrophil counts.Some patients had abnormal lymphocyte counts and CD4+/CD8+ratios.Microbiological tests showed positive cultures in 3 cases,positive smears in 2 cases and positive targeted detection in 6 cases.Nanopore sequencing detected various pathogens in the 9 patients.The treatment results indicated that 8 patients improved after medication,with 6 patients having medication regimens adjusted based on nanopore sequencing results.CONCLUSION Nanopore sequencing technology has shown potentials in the auxiliary diagnosis of TM infection,providing timely etiological diagnostic evidence for clinical practice.
3.Association between maternal age and chromosomal status of pre-implantation embryos
Chunyan WEI ; Rong LI ; Changlong XU ; Ni′na LI ; Ying HUANG ; Jian ZHANG ; Qiuwen SHI
Chinese Journal of Medical Genetics 2025;42(3):257-263
Objective:To analyze the chromosome status of pre-implantation embryos from women of different ages, and assess the impact of age on it.Methods:A retrospective analysis was carried out on the results of PGT-A and PGT-M+ PGT-A cycles by whole-genome amplification followed by next generation sequencing at the Second People′s Hospital of Nanning between July 2021 and November 2023. The embryos were divided into five groups based on the women′s age: ≤ 30 years old group, 31 ~ 34 years old group, 35 ~ 37 years old group, 38 ~ 40 years old group, and ≥ 41 years old group. The chromosomal status of embryos for each group was compared. This study has been approved by the Ethic Committee of the Hospital (Ethics No. Y2024312A).Results:This study has involved 390 couples and 436 PGT cycles, with a total of 1 651 blastocysts biopsied and analyzed. Among these, 835 embryos (50.6%) were found to have chromosomal abnormalities, including 490 (29.7%) with aneuploidies, 154 (9.3%) with chromosomal segment abnormalities, and 264 (16.0%) with chromosome mosaicisms. After adjusting the dosages of Gn, female BMI, male age, PGT indications, infertility type, LH, AMH and other parameters, maternal age appeared to be an independent factor for chromosomal abnormalities and aneuploidies in blastocysts ( OR=1.132, 95% CI = 1.089 - 1.177, P<0.001; OR=1.250, 95% CI = 1.188-1.315, P<0.001). With the increase in female age, embryonic chromosome abnormalities have significantly increased in each group, with the rates being 32.3% (126/390), 43.1% (189/439), 45.1% (116/257), 66.3% (250/377), and 81.9% (154/188) ( P<0.001). Chromosomal aneuploidies have also significantly increased, with the rates being 8.2% (32/390), 16.6% (73/439), 24.5% (63/257), 49.6% (187/377), and 71.8% (135/188) ( P<0.001). The proportion of embryos with ≥ 2 chromosome abnormalities also significantly increased in abnormal embryos, with the rates being 28.6% (36/126), 30.2% (57/189), 39.7% (46/116), 48.4% (121/250), and 64.9% (100/154) ( P<0.001). Of note, the female age did not affect the prevalence of chromosomal segment abnormalities and mosaicisms (all P>0.05). Conclusion:The findings suggested that along with the increase infemale age, there was an increase in the rate of chromosomal abnormalities, at the same time, the type of chromosomal abnormality changed, mainly with an increased incidence of chromosomal aneuploidy, and the proportion of embryos involving multiple chromosomal abnormalities increases significantly.
4.Characteristics of non-small cell lung carcinoma with trophoblastic differentiation in males: a clinicopathological analysis of 16 cases
Shengnan ZHAO ; Chunyan WU ; Likun HOU ; Huikang XIE ; Wei WU ; Wei ZHANG ; Liping ZHANG
Chinese Journal of Pathology 2025;54(5):482-487
Objective:To investigate the clinical pathological features, immunophenotypes, diagnosis, and differential diagnosis of non-small cell lung carcinoma (NSCLC) with trophoblastic differentiation in males, and to improve the understanding of this rare disease.Methods:The clinical and pathological features of 16 NSCLC with trophoblastic differentiation in males diagnosed in Shanghai Pulmonary Hospital from January 2017 to December 2023 were retrospectively analyzed. Relevant literature was reviewed.Results:All 16 patients were male, with an onset median age of 66.5 (56.8, 68.8) years. They had no known personal history of cancer. Among the 8 resected NSCLC with trophoblastic differentiation, 3 showed concurrent lung adenocarcinoma, and 1 showed concurrent lung squamous cell carcinoma. Among the 10 patients who underwent serum β human chorionic gonadotropin (β-HCG) testing after the surgery or biopsy, 7 had significantly increased β-HCG. On gross examination, the tumors were hemorrhagic and necrotic, resembling a hematoma, with a medium texture, clear boundaries and no capsules. At low magnification, tumor cells were arranged in a nested or solid pattern. Those cells often showed massive bleeding, necrosis, and vascular infiltration. They were composed of two types of cells, namely cytotrophoblast and syncytiotrophoblast cells. At high magnification, the tumor cells showed large nuclei and hyperchromatia. They also had rich purple blue to bichromatic cytoplasm, eosinophilic nucleoli, and sometimes bizarre nuclei. The syncytiotrophoblast cells expressed β-HCG, CKpan, GATA3, CD10, and SALL4. Fourteen patients were followed up for 1-37 months. Two of them died, while three showed distant metastasis.Conclusions:NSCLC with trophoblastic differentiation in males is a rare and highly malignant tumor, poorly understood with difficulty in diagnosis. It requires comprehensive histological analysis in combination with clinical and imaging studies. Properly diagnosing this disease relies on recognition of its histopathological characteristics, including large areas of bleeding and necrosis, large and peculiar syncytial trophoblast cells, and varying degrees of β-HCG expression. It seems that β-HCG expression is very valuable for diagnosing this rare tumor.
5.Insight into vessels,being aware of subtle to reveal the significant:Clinical advances of carotid ultrasound
Chunyan MA ; Pintong HUANG ; Wei ZHANG ; Wen HE
Chinese Journal of Medical Imaging Technology 2025;41(8):1308-1312
Carotid ultrasound is the primary imaging modality for evaluating carotid artery diseases.In recent years,novel ultrasound techniques such as pulse wave velocity imaging,shear wave elastography,superb microvascular imaging,three-dimensional ultrasound and contrast-enhanced ultrasound,have been employed in assessment of carotid pathologies,providing important evidences for clinical diagnosis and prognostic evaluation.The progresses of clinical applications of carotid ultrasound were reviewed in this article.
6.Drug resistance in 38 cases of carbapenem-resistant Serratia marcescens infection in a grade Ⅲ level A general hospital in Shanghai
Yuan LI ; Liang TIAN ; Chunyan LI ; Yun LIU ; Wei JI
Shanghai Journal of Preventive Medicine 2025;37(6):484-489
ObjectiveTo understand the infection characteristics and drug resistance of carbapenem-resistant Serratia marcescens (CRSM) in a general hospital in Shanghai, and to provide a theoretical basis for clinical anti-infective treatment and prevention of drug-resistant bacteria. MethodsClinical data on cases with CRSM infections detected in clinical specimens at a gradeⅢ level A general hospital in Shanghai from June 2022 to June 2024 were retrospectively collected, and their clinical distributions, factors of hospital-acquired infections, prognosis, and drug-resistant situation were analyzed simultaneously. ResultsA total of 38 cases with CRSM were detected from June 2022 to June 2024, and the number of CRSM strains accounted for 25.00% (38/152) of the number of SM strains. The 38 CRSM infection samples were all derived from sputum. CRSM were distributed in 9 clinical departments, and the top 3 departments having the highest percentages of CRSM among SM strains, were intensive care unit (ICU) (78.79%, 26/33), gastrointestinal surgery department (57.14%, 4/7), and thyroid hernia surgery department (50.00%, 1/2). Among the 38 patients with CRSM infections, 8 cases were identified as hospital-acquired infection, resulting in a hospital-acquired infection rate of 21.05. The mortality rate of the 38 cases of CRSM infected patients within 30 days after detection of CRSM was 23.68% (9/38). The results of multivariate logistic regression analysis showed that sequential organ failure assessment (SOFA) score
7.Genetic detection for hereditary cancer syndrome among general population
Xinning CHEN ; Li ZHANG ; Li YU ; Huiqin JIANG ; Fei HUANG ; Chunyan ZHANG ; Baishen PAN ; Beili WANG ; Wei GUO
Chinese Journal of Clinical Medicine 2025;32(4):627-633
Objective To examine the significance of susceptible gene detection for hereditary cancer syndrome (HCS) among general population. Methods A total of 2 928 individuals undergoing routine health examinations in Healthcare Center of Zhongshan Hospital, Fudan University, from September 2021 to April 2024 were enrolled retrospectively. Next generation sequencing was employed to identify susceptible genes for HCS. American College of Medical Genetics and Genomics (ACMG) guideline was used to analyze the pathogenicity of variants. Clinical data, imagings, follow-up data were also collected. Results The overall mutation rate of HCS panel was 3.59% (105/2 928), with 0.61% (18/2 928) for MutY DNA glycosylase (MUTYH), 0.27% (8/2 928) for breast cancer susceptibility gene 1/2 (BRCA1/2) and 0.23% (7/2 928) for mismatch repair (MMR) genes. Conclusions Healthy individuals carrying tumor susceptible genes usually lack the relevant clinical phenotypes. Whether comprehensive testing needs to be carried out among healthy people remains to be further explored.
8.Multi-omics reveals the inhibition mechanism of Bacillus velezensis DJ1 against Fusarium graminearum.
Meng SUN ; Lu ZHOU ; Yutong LIU ; Wei JIANG ; Gengxuan YAN ; Wenjing DUAN ; Ting SU ; Chunyan LIU ; Shumei ZHANG
Chinese Journal of Biotechnology 2025;41(10):3719-3733
Bacillus velezensis DJ1 exhibits broad-spectrum antagonistic activity against diverse phytopathogenic fungi, while its biocontrol mechanisms against Fusarium graminearum, the causal agent of maize stalk rot, remain poorly characterized. In this study, we integrated genomics and transcriptomics to elucidate the antifungal mechanisms of strain DJ1. The results demonstrated that DJ1 inhibited F. graminearum with the efficacy of 64.4%, while its polyketide crude extract achieved the control efficacy of 55% in pot experiments against this disease. Whole-genome sequencing revealed a single circular chromosome (3 929 792 bp, GC content of 47%) harboring 12 biosynthetic gene clusters for secondary metabolites, six of which encoded known antimicrobial compounds (macrolactin H, bacillaene, difficidin, surfactin, fengycin, and bacilysin). Transcriptomic analysis identified 243 differentially expressed genes (152 upregulated and 91 downregulated, P < 0.05), which were potentially associated with the antagonistic activity against F. graminearum. KEGG enrichment analysis highlighted activation (P < 0.05) of cysteine/methionine metabolism, pentose phosphate pathway, and polyketide biosynthesis pathways, indicating that DJ1 employed synergistic strategies involving antimicrobial compound synthesis, energy metabolism enhancement, and nutrient competition to suppress pathogens. This study provides a theoretical foundation for developing novel microbial resources and application technologies to combat phytopathogenic fungi.
Fusarium/drug effects*
;
Bacillus/metabolism*
;
Plant Diseases/prevention & control*
;
Antifungal Agents/pharmacology*
;
Genomics
;
Zea mays/microbiology*
;
Transcriptome
;
Gene Expression Profiling
;
Antibiosis
;
Multigene Family
;
Multiomics
9.Clinical value of DSA in diagnosis and treatment of delayed pancreaticoduodenectomy hemorrhage
Jiwen WANG ; Chunyan WANG ; Sheng SHEN ; Han LIU ; Wei ZHANG ; Houbao LIU
Journal of Surgery Concepts & Practice 2025;30(2):125-131
Objective To evaluate the clinical efficacy and application value of digital subtraction angiography (DSA) in the management of delayed pancreaticoduodenectomy(PD) hemorrhage(PPH).Methods A retrospective analysis was conducted on the clinical data of 38 patients who underwent DSA for delayed PPH at Zhongshan Hospital, Fudan University, between January 2019 and December 2024. The technical success rate and clinical outcomes of interventional treatment were the primary focus of the evaluation.Results Among 726 patients who underwent PD, 38 (5.2%) experienced delayed bleeding. Of these, 30 (78.9%) showed positive findings on DSA. The distribution of bleeding sites was as follows: gastroduodenal artery (18 cases), common hepatic artery (1 case), the first branch of the jejunal artery (2 cases), proper hepatic artery (2 cases), right hepatic artery (1 case), middle hepatic artery (1 case), left hepatic artery (3 cases), origin of the splenic artery (1 case), and right gastroepiploic artery (1 case). Interventional treatments included microcoil embolization (17 cases), microcoil combined with gelatin sponge embolization (4 cases), covered stent implantation (7 cases), and gelatin sponge embolization alone and microspheres embolization (1 case each). Successful hemostasis was achieved in 28 (93.3%) patients through DSA-guided interventional treatment, while 2 patients required surgical hemostasis due to recurrent bleeding.Conclusions DSA-guided interventional embolization offers advantages such as minimal invasiveness, precise localization, and effective hemostasis, making it the preferred treatment strategy for delayed PPH.
10.Association between maternal age and chromosomal status of pre-implantation embryos.
Chunyan WEI ; Rong LI ; Changlong XU ; Ni'na LI ; Ying HUANG ; Jian ZHANG ; Qiuwen SHI
Chinese Journal of Medical Genetics 2025;42(3):257-263
OBJECTIVE:
To analyze the chromosome status of pre-implantation embryos from women of different ages, and assess the impact of age on it.
METHODS:
A retrospective analysis was carried out on the results of PGT-A and PGT-M+PGT-A cycles by whole-genome amplification followed by next generation sequencing at the Second People's Hospital of Nanning between July 2021 and November 2023. The embryos were divided into five groups based on the women's age: ≤ 30 years old group, 31 ~ 34 years old group, 35 ~ 37 years old group, 38 ~ 40 years old group, and ≥ 41 years old group.The chromosomal status of embryos for each group was compared. This study has been approved by the Ethic Committee of the Hospital (Ethics No. Y2024312A).
RESULTS:
This study has involved 390 couples and 436 PGT cycles, with a total of 1 651 blastocysts biopsied and analyzed. Among these, 835 embryos (50.6%) were found to have chromosomal abnormalities, including 490 (29.7%) with aneuploidies, 154 (9.3%) with chromosomal segment abnormalities, and 264 (16.0%) with chromosome mosaicisms. After adjusting the dosages of Gn, female BMI, male age, PGT indications, infertility type, LH, AMH and other parameters, maternal age appeared to be an independent factor for chromosomal abnormalities and aneuploidies in blastocysts (OR = 1.132, 95%CI = 1.089-1.177, P < 0.001; OR = 1.250, 95%CI = 1.188-1.315, P < 0.001). With the increase in female age, embryonic chromosome abnormalities have significantly increased in each group, with the rates being 32.3% (126/390), 43.1% (189/439), 45.1% (116/257), 66.3% (250/377), and 81.9% (154/188) (P < 0.001). Chromosomal aneuploidies have also significantly increased, with the rates being 8.2% (32/390), 16.6% (73/439), 24.5% (63/257), 49.6% (187/377), and 71.8% (135/188) (P < 0.001). The proportion of embryos with ≥ 2 chromosome abnormalities also significantly increased in abnormal embryos, with the rates being 28.6% (36/126), 30.2% (57/189), 39.7% (46/116), 48.4% (121/250), and 64.9% (100/154) (P < 0.001). Of note, the female age did not affect the prevalence of chromosomal segment abnormalities and mosaicisms (all P > 0.05).
CONCLUSION
Above findings suggested that along with the increase in female age, there is an increase in the rate and complexity of chromosomal abnormalities, which may contribute to infertility in women with elder age.
Humans
;
Female
;
Maternal Age
;
Adult
;
Retrospective Studies
;
Chromosome Aberrations
;
Preimplantation Diagnosis/methods*
;
Pregnancy
;
Blastocyst/metabolism*
;
Aneuploidy
;
Fertilization in Vitro
;
Male

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