1.Analysis of serological and molecular genetic characteristics of a Chinese pedigree with a B(A)06 subtype.
Dongdong TIAN ; Ding ZHAO ; Wei LI ; Zhihao LI ; Jiali YANG ; Yongfang ZHANG ; Liuchuang ZHENG
Chinese Journal of Medical Genetics 2026;43(3):220-227
OBJECTIVE:
To explore the serological and molecular genetic characteristics of a family with subtype B(A)06.
METHODS:
A neonatal hyperbilirubinemia patient who was treated at Henan Children's Hospital on June 15, 2023 due to "yellowing of the skin and gradual aggravation", and was found to have inconsistent ABO forward and reverse typing through blood type testing, was selected as the research subject. Six milliliters of peripheral blood were collected from the newborn and her family members (grandfather, grandmother, father, mother and aunt) respectively. ABO blood group identification was performed by the blood group serological method. Human genomic DNA was extracted using the nucleic acid extraction or purification reagent BT-01. ABO gene exons 2 to 7 were amplified by PCR. The PCR-specific products that were successfully amplified were sequenced by Sanger method. Taking ABO*A1.01 as the reference sequence, the ABO gene sequences of the newborn and her family members were analyzed to determine the ABO genotype. The procedures followed in this study were approved by the Ethics Committee of Henan Children's Hospital (Ethics No.: 2022-K-L036).
RESULTS:
The serological results of ABO blood group showed that the newborn, her grandfather, father and aunt were all incompatible with the forward and reverse typing. The blood group phenotype of the newborn was AwB or B(A), the blood group phenotype of the grandfather was A2B or B(A), the blood group phenotype of the father and aunt were A2B, and the blood group phenotype of the grandmother and mother were both O. The screening test results of hemolytic disease of the newborn showed that the free test detected IgG anti-A1 antibody, while the elution test, direct antiglobulin test and antibody screening results were all negative. The Sanger sequencing results showed that the newborn had variations of c.261delG, c.297A>G, c.526C>G, c.657C>T, c.703G>A, c.796C>A and c.930G>A. Her grandfather had variations of c.297A>G, C.526C>G, c.657C>T, c.703G>A, c.796C>A, c.803G>C and c.930G>A. Her grandmother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T and c.829G>A. Her father and aunt had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.526C>G, c.646T>A, c.657C>T, c.681G>A, c.703G>A, c.771C>T, c.796C>A, c.829G>A and c.930G>A. Her mother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T, and c.829G>A.The genotype of the newborn was ABO*BA.06/ABO*O.01.01, her grandfather was ABO*BA.06/ABO*B.01, her grandmother was ABO*O.01.02/ABO*O.01.02, her father and aunt were ABO*BA.06/ABO*O.01.02, and her mother was ABO*O.01.01/ABO*O.01.02. The ABO*BA.06 allele of the newborn, grandfather, father and aunt was caused by the c.803C>G variation in exon 7 based on the ABO*B.01 allele. The ABO*BA.06 allele can be stably inherited in this family.
CONCLUSION
The blood type of neonatal patients with B(A)06 subtype can be accurately determined by gene sequencing technology. If the forward typing is ≤ 3+ agglutination intensity in newborn ABO blood group identification, the reason should be carefully analyzed, and the molecular biology technology and family gene sequencing results should be used to jointly determine if necessary.
Humans
;
ABO Blood-Group System/genetics*
;
Female
;
Pedigree
;
Male
;
Infant, Newborn
;
Asian People/genetics*
;
Genotype
;
China
;
Blood Grouping and Crossmatching
;
Hyperbilirubinemia, Neonatal/blood*
;
East Asian People
2.Relationship between EDNRA gene polymorphisms and congenital bilateral absence of the vas deferens in the male Han Chinese population
Yuwan PENG ; Xiaojin HE ; Xiaoyu YANG ; Jing WANG ; Binbin WANG ; Dongdong TANG ; Zhaolian WEI ; Yunxia CAO
Acta Universitatis Medicinalis Anhui 2026;61(5):931-936
ObjectiveTo investigate the association between endothelin receptor type A gene (EDNRA) and congenital bilateral absence of the vas deferens (CBAVD). MethodsThis case-control study consisted of 124 subjects with CBAVD and 100 fertile controls.Two single nucleotide polymorphisms (SNPs: rs5335 and rs1801708) in the EDNRA gene were genotyped via PCR, PCR-RFLP analysis, and direct sequencing. ResultsNo significant differences existed between EDNRA polymorphisms and CBAVD phenotype (rs1801708: P=0.220 2, 0.163 2; rs5335: P=0.805 8, 0.818 6). However, the rs1801708-rs5335 haplotype AG was notably associated with an increased risk of CBAVD (P=0.008 6, OR=2.178, 95% CI: 1.207-3.929). A significantly protective effect of rs1801708-rs5335 haplotype GG on CBAVD (P=0.038 5, OR= 0.671, 95% CI: 0.460-0.980) was observed. After Bonferroni correction, the result for haplotype A-G remained significant (P =0.008 6<0.012 5), while haplotype G-G was not significant. ConclusionThe rs1801708-rs5335 AG haplotype of EDNRA is a potential risk factor for CBAVD development in Han Chinese.
3.Exploring Clinical Application of Phlegm-resolving and Detoxifying Prescriptions Based on Lung Cancer Treatment
Chen LI ; Xiaoman WEI ; Qiuying YAN ; Liu LI ; Liping ZHOU ; Mianhua WU ; Haibo CHENG ; Dongdong SUN
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(23):228-238
Lung cancer is the leading cause of cancer-related deaths worldwide. While modern medical therapies such as surgery, chemotherapy, and radiotherapy have achieved progress, they often come with severe side effects and drug resistance. Traditional Chinese medicine (TCM), characterized by its multi-component, multi-target, and holistic regulatory properties, plays a significant role in the adjunctive treatment of lung cancer. It offers unique advantages in alleviating clinical symptoms, enhancing patients' quality of life, prolonging survival, and enhancing efficacy while reducing toxicity, serving as an important therapeutic modality for lung cancer. The theory of cancer-toxin pathogenesis proposes that phlegm-toxin is a key pathogenic factor in lung cancer, with phlegm-toxin mutual entanglement being the core pathogenesis of lung cancer. The pathogenic characteristics-viscosity, dispersion, and damage to the healthy Qi-of phlegm-toxin are closely related to the accumulation of acidic metabolic products, tumor invasion and metastasis, and immune suppression during the course of lung cancer. Phlegm resolving and toxin clearing are the core therapeutic methods for lung cancer. Such prescriptions possess dual functions of resolving phlegm and dissipating mass, as well as inhibiting tumor and detoxifying. They exert antitumor effects through multiple pathways, including regulating metabolic reprogramming of glucose and lipids, improving the acidic microenvironment of tumors, and inhibiting inflammatory signaling pathways. This paper systematically reviews the current clinical application status and mechanisms of phlegm-resolving and detoxifying Chinese herbal medicines. By integrating the theory of cancer-toxin pathogenesis with modern pharmacological research findings, this paper explores their application in lung cancer treatment and establishes a clinical application system for phlegm-resolving and detoxifying therapies in lung cancer based on phlegm-toxin pathogenesis. This system integrates ancient and modern experiences with contemporary mechanisms, aiming to provide theoretical foundations and practical references for integrated traditional and Western medicine diagnosis, treatment, and drug development for lung cancer and other conditions.
4.Investigation of the Mechanism of Atractylodes Ⅰ Inhibiting Colorectal Cancer via the AKT/S6K1 Signaling Pathway
Wei TIAN ; Qiuying YAN ; Jingwen LUO ; Qibiao WU ; Weixing SHEN ; Haibo CHENG ; Changliang XU ; Dongdong SUN
Journal of Nanjing University of Traditional Chinese Medicine 2025;41(8):1037-1046
OBJECTIVE To investigate the pharmacological efficacy and mechanism of action of Atractylenolide Ⅰ(Atr-Ⅰ)in inhibiting colorectal cancer.METHODS Among three active compounds of Atractylodes macrocephala,Atr-Ⅰ exhibited the highest anti-tumor potency by MTT assay.The optimal concentration of Atr-Ⅰ was determined.The effect of Atr-Ⅰ on LoVo cell prolifera-tion was assessed via a clonogenic assay,while its impact on apoptosis and cell cycle progression was evaluated using flow cytometry.The influence of Atr-Ⅰ on the migration and invasion of LoVo cell line was examined through wound healing and Transwell migration assays.Western blot analysis was performed to explore the effects and mechanisms of Atr-Ⅰ on proteins associated with mi-gration,proliferation,and epithelial-mesenchymal transition(EMT)in LoVo cells.The CT26 mouse subcutaneous tumor model was established,and histopathological analysis was conducted using hematoxylin-eosin(HE)staining.Western blot was also used to assess the effects of Atr-Ⅰ on EMT-related proteins in mouse tissues to elucidate underlying mechanisms.RESULTS Atr-Ⅰ significantly reduced colorectal cancer cell viability,with statistically significant differences between treatment and control groups(P<0.05,P<0.01).Atr-Ⅰ induced apoptosis in LoVo cells,with the treatment group showing significant differences compared to the control(P<0.05,P<0.01).Cell cycle analysis revealed that Atr-Ⅰ exerted anti-tumor effects by inducing G2/M phase arrest,with increased G2 phase cell numbers in the LoVo treatment group compared to the control(P<0.05).Wound healing and Transwell migration assays confirmed that Atr-Ⅰ significantly inhibited tumor cell migration and invasion(P<0.05,P<0.01).Western blot analysis demonstra-ted that Atr-Ⅰ specifically suppressed the expression of c-Myc and Bcl-2(P<0.05),as well as cell cycle-related proteins CDK1,Cyclin B1,and Cyclin D1(P<0.05),and angiogenesis-related proteins VEGF and MMP9(P<0.05).Additionally,Atr-Ⅰ down-regulated EMT-related protein N-cadherin and upregulated E-cadherin expression(P<0.05).It also reduced the expression of p-AKT and p-S6K1(P<0.05).CONCLUSION Atr-Ⅰ exhibits potent anti-tumor effects against colorectal cancer,potentially through modulation of the AKT/S6K1 signaling pathway.
5.Etiological characteristics of post-infection in liver transplantation recipients and risk factors
Yina WU ; Yongyi CHEN ; Xian WEI ; Chunlei WANG ; Dongdong HAN ; Jun DUAN
Chinese Journal of Organ Transplantation 2025;46(11):763-771
Objective:To investigate the pathogen distribution characteristics and related risk factors for postoperative infection in liver transplant recipients.Method:A retrospective analysis was conducted on the clinical data of 153 recipients who underwent liver transplantation and received postoperative treatment in the intensive care unit (ICU) of China-Japan Friendship Hospital from January 2019 to December 2023. According to whether postoperative infection occurred, the recipients were divided into the infection group (33 cases) and the non-infection group (120 cases). Pathogen-related data were collected from multiple postoperative body fluid sites of liver transplant recipients. Univariate analysis and multivariate logistic regression analysis were performed to identify independent risk factors.Result:Among the 153 recipients, 105 were male and 48 were female, with a mean age of (52.2 ± 9.5) years. During the ICU stay after liver transplantation, 33 recipients developed infections, including 15 cases of single-pathogen infection and 18 cases of mixed-pathogen infection. The most common site of infection was the lung, accounting for 22 cases (66.67%). Eleven recipients (33.33%) in the infection group died, with septic shock being the leading cause of death (7 cases, 63.63%), and the median survival time was 14 days. Infected recipients had Gram-negative bacteria (171 strains), mainly Stenotrophomonas maltophilia[54 strains (31.57%)] and Pseudomonas aeruginosa[52 strains (30.41%)]. Gram-positive bacteria (47 strains) were dominated by Enterococcus faecalis[25 strains (53.19%)]. Multivariate regression analysis showed that postoperative mechanical ventilation for more than 48 hours was an independent risk factor for infection in liver transplant recipients ( OR=10.878, 95% CI: 3.632-32.580, P<0.001). Conclusion:It is necessary to prevent ventilator-associated pneumonia in liver transplant recipients. Early removal of the tracheal tube and strengthening hospital infection prevention and control are of great significance in reducing the risk of postoperative infection in liver transplant recipients.
6.Study on the Chemical Components of Lignans from the Root Bark of Schisandra Sphenanthera
Yuxuan WANG ; Yuanyuan LIU ; Yuying ZHANG ; Shiqi HUANG ; Yuze LI ; Chong DENG ; Xiaomei SONG ; Wei WANG ; Dongdong ZHANG
Journal of Nanjing University of Traditional Chinese Medicine 2025;41(6):813-821
OBJECTIVE To study the chemical constituents in the root bark of Schisandra sphenanthera and their cytotoxic activ-ities.METHODS The compounds were isolated and purified by silica,Sephadex LH-20 and semi preparative-HPLC and the chem-ical structures were identified by 1 H-NMR,13 C-NMR and MS data analysis.The cytotoxic activities of the compounds were deter-mined by MTT method.RESULTS Twenty lignans were isolated and deduced as:Matairesinol(1),2-Hydroxy-2-(3′,4′-di-hydroxyphenyl)methyl-3-(3″,4″-dimethoxyphenyl)methyl-gamma-butyrolactone(2),(+)-Nortrachelogenin(3),2-Hydroxy-2-(4′-O-β-D-glucopyranosyl-3′-hydroxyphenyl)methyl-3-(3″,4″-dimethoxyphenyl)methyl-γ-butyrolactone(4),Nortracheloside(5),Burselignan(6),(+)-Cycloolivil(7),5-Methoxy-(+)-isolariciresinol(8),(-)-Isolariciresinol 3α-O-β-D-glucopyranoside(9),(+)-9-O-β-D-Glucopyranosyl lyoniresinol(10),(-)-Secoisolariciresinol(11),Licarin A(12),Cedrusin(13),Mataires-inol 4′-O-β-D-glucopyranoside(14),Pregomisin(15),Meso-dihydroguaiaretic acid(16),7S,8R-Erythro-4,9,9′-trihydroxy-3,3′-dimethoxy-8-O-4′-neolignan-7-O-β-D-glucopyranoside(17),Gomisin M2(18),Gomisin M3(19),Pinoresinol(20).Com-pounds 1-3,12,15,16,18 and 19 showed cytotoxic activity against A549,HCT116 and SW620 cell lines with IC50 values ranging from 1.4 to 22.9 μmol·L-1.CONCLUSION Compounds 1-4,6-12,14,17-19 are isolated from the plant for the first time,com-pounds 1-3,12,15,16,18 and 19 exhibit cytotoxic activities.
7.Etiological characteristics of post-infection in liver transplantation recipients and risk factors
Yina WU ; Yongyi CHEN ; Xian WEI ; Chunlei WANG ; Dongdong HAN ; Jun DUAN
Chinese Journal of Organ Transplantation 2025;46(11):763-771
Objective:To investigate the pathogen distribution characteristics and related risk factors for postoperative infection in liver transplant recipients.Method:A retrospective analysis was conducted on the clinical data of 153 recipients who underwent liver transplantation and received postoperative treatment in the intensive care unit (ICU) of China-Japan Friendship Hospital from January 2019 to December 2023. According to whether postoperative infection occurred, the recipients were divided into the infection group (33 cases) and the non-infection group (120 cases). Pathogen-related data were collected from multiple postoperative body fluid sites of liver transplant recipients. Univariate analysis and multivariate logistic regression analysis were performed to identify independent risk factors.Result:Among the 153 recipients, 105 were male and 48 were female, with a mean age of (52.2 ± 9.5) years. During the ICU stay after liver transplantation, 33 recipients developed infections, including 15 cases of single-pathogen infection and 18 cases of mixed-pathogen infection. The most common site of infection was the lung, accounting for 22 cases (66.67%). Eleven recipients (33.33%) in the infection group died, with septic shock being the leading cause of death (7 cases, 63.63%), and the median survival time was 14 days. Infected recipients had Gram-negative bacteria (171 strains), mainly Stenotrophomonas maltophilia[54 strains (31.57%)] and Pseudomonas aeruginosa[52 strains (30.41%)]. Gram-positive bacteria (47 strains) were dominated by Enterococcus faecalis[25 strains (53.19%)]. Multivariate regression analysis showed that postoperative mechanical ventilation for more than 48 hours was an independent risk factor for infection in liver transplant recipients ( OR=10.878, 95% CI: 3.632-32.580, P<0.001). Conclusion:It is necessary to prevent ventilator-associated pneumonia in liver transplant recipients. Early removal of the tracheal tube and strengthening hospital infection prevention and control are of great significance in reducing the risk of postoperative infection in liver transplant recipients.
8.Clinical features of dystonia in patients with different types of atypical Parkinson syndrome
Dongdong WU ; Jing HE ; Yunfei LONG ; Huijing LIU ; Wei DU ; Huimin CHEN ; Shuhua LI ; Ying JIN ; Xinxin MA ; Wen SU ; Haibo CHEN
Chinese Journal of General Practitioners 2025;24(4):465-470
Objective:To evaluate the clinical features of dystonia in patients with different types of atypical Parkinson syndrome (APS).Methods:A total of 104 patients with APS admitted in the Department of Neurology, Beijing Hospital from January 2015 to June 2023 were enrolled in the study, including 57 cases of multiple system atrophy (MSA), 38 cases of progressive supranuclear palsy (PSP) and 9 cases of corticobasal degeneration (CBD). Among 104 cases there were 63 males (60.6%), the mean age of patients was (62.3±8.9) years (54 to 73 years). The sex, age at onset, disease duration, first symptom, clinical features of dystonia and other neurological signs, response to levodopa therapy, numbers of Hoehn & Yahr scale≥3 after 3 years of disease, and MRI findings were documented in patients with different type APS.Results:The overall frequency of dystonia in this series was 45.2%(47/104), and 33.3% (19/57) for MSA group, 50.0% (19/38) for PSP group, 9/9 for CBD group. The types of dystonia were anterocollis, retrocollis, blepharospasm, oromandibular, foot/limb dystonia, Pisa syndrome and myoclonus. In all 47 cases presenting dydtonia, dystonia was not the first complaint and it did not respond to levodopa therapy.Conclusion:In this series of atypical Parkinson syndrome, dystonia is a common feature of the disease, while it is not the first symptom at disease onset, and usually does not respond to levodopa therapy.
9.Study on the clinical efficacy of FMEA in optimizing management of blood purification equipment
Haiyu FAN ; Wei JIANG ; Yingjie NIE ; Dongdong YANG
China Medical Equipment 2025;22(4):129-134
Objective:To explore the clinical efficacy value of the medical failure mode,and failure mode and effect analysis(FMEA)mode in equipment management of the department of optimizing blood purification equipment.Methods:Based on the management concept of medical FMEA,a FMEA management mode for equipment was constructed to manage the hemodialysis equipment in the blood purification department of the First Affiliated Hospital of Hebei North University.A total of 83 used hemodialysis equipment in the blood purification department of our hospital from October 2022 to September 2024 were selected,and they were managed respectively by using conventional management mode and FMEA management mode.The differences of operation quality of equipment,comprehensive efficiency of equipment and the management capabilities of managers who used the equipment between two kinds of management modes were compared.Results:The average values of failure rate of equipment,self-repair rate,maintenance rate,and standardized operation rate of using FMEA management mode were respectively(4.72±0.11)%,(90.62±3.44)%,(95.42±2.43)%and(96.22±1.48)%.The failure rate of FMEA management mode was lower than that of conventional management mode,while the self-repair rate,maintenance rate,and standardized operation rate were higher than those of conventional management mode,and the differences were statistically significant(t=108.568,13.658,9.318,10.354,P<0.05).The average values of availability ratio of equipment,ratio of performance index,and ratio of quality index of adopting FMEA management mode were respectively(91.04±2.65)%,(96.94±2.31)%and(97.66±1.19)%,which were higher than those of conventional management mode,and the differences were statistically significant(t=19.330,13.085,14.889,P<0.05).The scores of job responsibilities,basic knowledge for equipment,guarantee capabilities for operation and management performance of manager were respectively(94.12±2.76),(92.03±2.50),(91.35±2.62)and(93.65±3.28)in using the FMEA management mode,which were all higher than those of the conventional management mode,and the differences were statistically significant(t=7.630,11.027,17.311,11.645,P<0.05).Conclusion:The application of medical FMEA management mode in the management for hemodialysis equipment in the blood purification department can improve the quality of equipment operation,and reduce the failure frequency of equipment,and enhance the overall utilization efficiency of equipment,and improve the quality of clinical services in the department.
10.Distribution of methotrexate-modified magnetic fluid in rat breast cancer and its effects on survival and immune function
Li HUANG ; Dongdong CAO ; Weiwei OUYANG ; Wei WANG ; Jintian TANG ; Yichao GENG ; Shengfa SU ; Bing LU
Tumor 2025;45(1):1-11
Objective:Assessing the therapeutic efficacy of methotrexate(MTX)-modified magnetic nanoparticles in thermo-chemotherapy for rat breast cancer and its impact on immune function.Methods:Female Wistar rats were subcutaneously inoculated with breast cancer Walker-256 cells to establish a transplantation tumor model,and injected with polyethyleneimine(PEI)-modified Fe3O4 magnetic nanoparticles(47T group,42T group and multiple 42T group)or MTX-modified Fe3O4 magnetic nanoparticles(47TC group,42TC group and multiple 42TC group)for thermotherapy under the magnetic field at different temperatures(47℃and 42℃).The rats injected with MTX-modified magnetic fluid only(MFC group)and the tumor-bearing rats without any treatment(blank control group),with irradiation treatment in an alternating magnetic field only for 30 minutes(M group),with injection of PEI-modified magnetic fluid only(MF group),with treatment of MTX-mono drug(MTX group)and not inoculated with tumor cells(normal group)were used as control groups.X-ray radiography was used to display the distribution of magnetic fluid in the tumor tissue 24 hours,2 weeks and 2 months after intra-tumor injection.After 24 hours of treatment,three rats were selected from each of the 47T and 47TC groups,and the effect of magnetic fluid on tumor cells was observed under an electron microscope after execution.After 14 days of treatment,the tumor volume of rats was measured and statistically analyzed.At the same time,4 rats were selected from each of the 47TC,47T,42TC,42T,MFC,MTX,blank control and normal groups,and the levels of IL-2,IFN-γ and IL-4 in peripheral blood were detected by ELISA method.The remaining rats were observed for long-term survival.Results:The magnetic nanoparticles were evenly distributed in the center of the tumor but unevenly distributed at the tumor's edge;they primarily localize amomg tumor cells and can penertrate into tumor cells.Tumor growth was inhibited in rats in the 47TC,47T,multiple 42TC and multiple 42T groups(all P<0.05),and the survival rates of the rats were high.As compared with the blank control group,the levels of IL-2 and IFN-γ were increased while the IL-4 level was decreased in the 47TC and 47T groups(all P<0.05).Conclusion:Thermo-chemotherapy at 47℃for 30 minutes and multiple sessions at 42℃for 60 minutes can partially inhibit tumor growth and prolong rat survival.This effect maybe related to the thermo-chemotherapy at 47℃for 30 minutes which can activate the body's immune function.

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