1.Analysis of ten cases of Acute lymphoblastic leukemia with non-KMT2A::AFF1 transcriptional variant 11q23 rearrangements.
Yuanyuan WANG ; Shuzhen FU ; Yong SHEN ; Qingxia XU
Chinese Journal of Medical Genetics 2026;43(4):265-272
OBJECTIVE:
To analyze the clinical characteristics of patients with 11q23 rearrangement acute lymphoblastic leukemia (ALL) with non-KMT2A::AFF1 fusion genes.
METHODS:
The clinical data of 10 patients with KMT2A fusion gene positive and partner gene non-AFF1 ALL admitted to Henan Cancer Hospital from December 2016 to December 2024 were retrospectively summarized. The immunophenotype, molecular genetic characteristics, clinical manifestations and disease prognosis of these patients were analyzed. This research has been approved by the Medical Ethics Committee of Henan Cancer Hospital (Ethics No.: 2019342).
RESULTS:
Among the 10 patients, the fusion genes were KMT2A::MLLT1 in 7 cases, KMT2A::MLLT4, KMT2A::MLLT3 and KMT2A::MLLT10 in 1 case each. The European Group for the Immunological Classification of Leukemias (EGIL) classification included 6 cases of T-ALL, 2 cases of pro-B-ALL, 1 case of Common-B-ALL and 1 case of pre-B-ALL. 4 cases of B-ALL all expressed CD19, cCD79a, CD38 and HLA-DR, and some expressed CD34 and CD22, without expression or weak expression of CD10, without expression of CD20. One case was accompanied by myeloid marker CD15 expression. 6 cases of T-ALL all expressed CD34, CD7, most expressed CD38, and some expressed CD3, CD5, CD2, CD4 and CD8, and 1 case expressed CD4 and CD8 together. Chromosomal abnormalities were detected in 3 cases, 5 cases were positive for WT1 fusion gene, and 6 cases had gene alterations. 9 patients achieved the first complete remission (CR1) during chemotherapy, and 1 patient relapsed within 6 months after CR1. At the last follow up, 1 patient (the fusion gene was KMT2A::MLLT4) remained unrelieved. There were 2 cases of KMT2A rearrangement (KMT2A-r) persistent positive (+/+) and 8 cases of KMT2A-r negative (+/-). The overall survival (OS) rate and leukemia-free survival (LFS) rate of patients with KMT2A-r persistent positive were significantly lower than those of patients with negative change, and the differences were statistically significant (P values were all < 0.05). Among the 3 patients who received chemotherapy+allogeneic hematopoietic stem cell transplantation (allo-HSCT), no relapse was observed until the follow up day. The OS rate and LFS rate of patients with KMT2A::MLLT1 and chemotherapy+allo-HSCT were higher than those of non-KMT2A::MLLT1 and single chemotherapy patients, and the differences were not statistically significant (P values were all ≥ 0.05). There was no significant difference in OS rate and LFS rate between T-ALL and B-ALL patients (P values were all ≥ 0.05). The median LFS time of the 10 patients was 32 (0 ~ 100) months, and the median OS time was 36 (1 ~ 101) months.
CONCLUSION
The 11q23 rearrangement ALL with non-KMT2A::AFF1 transcript is mainly KMT2A::MLLT1, T-ALL is more common, and the rate of chromosomal karyotype detection is relatively low. Persistent positive KMT2A-r is unfavorable for patient survival, and allo-HSCT during the CR1 period may improve patient survival.
Humans
;
Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics*
;
Female
;
Male
;
Myeloid-Lymphoid Leukemia Protein/genetics*
;
Histone-Lysine N-Methyltransferase/genetics*
;
Adult
;
Adolescent
;
Chromosomes, Human, Pair 11/genetics*
;
Child
;
Transcriptional Elongation Factors/genetics*
;
Gene Rearrangement
;
Oncogene Proteins, Fusion/genetics*
;
Retrospective Studies
;
Young Adult
;
Middle Aged
;
Prognosis
;
Child, Preschool
;
DNA-Binding Proteins/genetics*
2.Immunogenic evaluation of pseudorabies virus gB protein expressed in the baculovirus-insect cell system.
Jin WANG ; Kai WANG ; Ying ZHANG ; Shuzhen TAN ; Shiqi SUN ; Huichen GUO ; Shuanghui YIN ; Jiaqiang NIU
Chinese Journal of Biotechnology 2025;41(7):2694-2706
Pseudorabies (PR) is an infectious disease caused by the pseudorabies virus (PRV), affecting various domesticated and wild animals. Since pigs are the only natural hosts of PRV, PR poses a serious threat to the pig farming industry. Currently, PR is primarily prevented through vaccination with inactivated vaccines or genetically modified attenuated live vaccines. Developing safe and effective genetically engineered vaccines would facilitate the eradication and control of PR. In this study, the PRV vaccine strain Bartha-K61 was used as the reference strain. The gB protein was expressed via the baculovirus-insect cell expression system. Non-denaturing gel electrophoresis confirmed that the gB protein could form a trimeric structure. The purified gB protein was used to immunize mice, and the immune effect was evaluated by a challenge test. The results showed that the gB antigen induced a strong immune response in mice, with the serum-neutralizing antibody titer above 1:70. The lymphocyte stimulation index reached more than 1.29, and the level of (interferon gamma, IFN-γ) release was higher than 100 pg/mL. After immunization, mice were challenged with the virus at a dose of 104 TCID₅₀/mL, 200 μL per mouse, and the clinical protection rate was 100%. Immunohistochemistry, histopathological section, and tissue viral load results showed that the pathological damage and viral load in the gB-immunized group were significantly lower than those in the PBS group. In summary, the gB protein obtained in this study induced strong humoral and cellular immune responses in mice, laying a foundation for developing a recombinant gB protein subunit vaccine.
Animals
;
Mice
;
Baculoviridae/metabolism*
;
Viral Envelope Proteins/biosynthesis*
;
Herpesvirus 1, Suid/genetics*
;
Pseudorabies/immunology*
;
Swine
;
Pseudorabies Vaccines/genetics*
;
Antibodies, Viral/blood*
;
Insecta/cytology*
;
Mice, Inbred BALB C
;
Female
;
Viral Vaccines/immunology*
3.The impact of postpartum depression on maternal responsiveness in infant care
Shuzhen LI ; Fang WANG ; Ke WANG ; Su LIU ; Qian WEI ; Qing YANG ; Leilei LIU ; Huijing SHI
Shanghai Journal of Preventive Medicine 2025;37(3):271-275
ObjectiveTo analyze the impact of maternal postpartum depression (PPD) at 2 months postpartum on caregiving for infants aged2 to 24 months, and to provide a scientific basis for future maternal and infant healthcare services. MethodsBased on the Shanghai Maternal-Child Pairs Cohort, 1 060 mother-child pairs were selected from those fully participating in follow-up visits at 2, 6, 12, and 24 months postpartum. Pregnancy and childbirth-related information was collected using standardized questionnaire surveys and hospital obstetric and maternity records. The Edinburgh postpartum depression scale was used to assess the maternal postpartum depressive symptoms at 2 months postpartum. At 2, 6, 12, and 24 months postpartum, questionnaire survey was used to evaluate the maternal responsiveness in caregiving and the provision of early learning opportunities for infants. Scores for responsive caregiving and early learning opportunities at 2, 6, 12, and 24 months were grouped based on the 25th percentile (P25) of total scores. The mixed-effects model was used to analyze the longitudinal impact of maternal postpartum depression at 2 months on the caregiving of 2 to 24-month-old infants. ResultsThe longitudinal results from the mixed-effects model did not show an impact of maternal PPD on infant responsive caregiving within 12 months and early learning opportunities within24 months. However, cross-sectional analysis revealed that, compared to the non-PPD group, the risk of low responsive caregiving at 2 months in the PPD group was 93% higher (OR=1.931, 95%CI: 1.113‒3.364, P=0.019). The risks for low provision of early learning opportunities at2 months and 24 months increased by 59% (OR=1.589, 95%CI: 1.082‒2.324, P=0.017) and 60% (OR=1.598, 95%CI:1.120‒2.279, P=0.010), respectively. ConclusionMaternal postpartum depression increases the risk of low responsive caregiving at 2 months, but its long-term effects warrant further research.
4.Analysis of current situation and countermeasures of sex education in special education schools in Luzhou
Chinese Journal of School Health 2025;46(6):802-805
Objective:
To analyze the implementation status and challenges of sex education in special education schools, so as to provide a scientific basis for formulating effective promotion strategies.
Methods:
From November 2023 to January 2024, a census survey was conducted among 120 in service teachers from 7 special education schools in Luzhou. The questionnaire covered the current status of sex education in schools, teachers attitudes and knowledge toward sex education, and their coping methods for students inappropriate sexual behaviors.
Results:
About 77.5% of teachers reported having provided sex education to students, but 93.2% indicated a lack of specialized sex education textbooks for special children, 90.4% reported no full time teachers for sex education, and the methods of sex education were relatively limited (50.0% mainly based on lecture method). Nearly 95.8% of teachers held a positive attitude toward sex education, with 98.3% supporting its implementation. Only 26.7% of teachers demonstrated a good grasp of sex education knowledge, with the best understood topic being "recognition and protection of private parts" (21.6%). When dealing with students inappropriate sexual behaviors, the active response rate of teachers was 23.9%, with the highest active response rate observed for "intentionally hugging or kissing the opposite sex" (39.7%).
Conclusions
The special education schools in Luzhou lack comprehensive sex education curricula, teaching materials and full time teachers, sufficient knowledge among teachers, and adequate proactive responses to students inappropriate sexual behaviors. Greater emphasis should be placed on sex education for special children, including the training of dedicated teachers, to provide comprehensive and high quality sex education services for special children.
5.Hepatitis B virus integration and hepatocarcinogenesis
Linlin MA ; Shuzhen CHEN ; Hongyang WANG ; Lei CHEN
Liver Research 2025;9(3):189-198
Hepatitis B virus(HBV)is the most common cause of hepatocellular carcinoma(HCC),which is the predominant liver cancer type in Southeast Asia.Approximately 350 million individuals suffer from persistent hepatitis B infection worldwide.HBV promotes HCC development through direct and indirect mechanisms.HBV DNA integrates into the host genome during the initial stages of tumorigenesis,causing insertional mutagenesis of cancer-related genes and genomic instability.Extrachromosomal circular DNA(ecDNA)is formed,which is efficiently amplified in large quantities to express viral genes and host oncogenes.Moreover,virus-associated proteins,such as the regulatory HBV X(HBx)protein and/or the modified preS/S envelope protein,alter the expression of genes associated with multiple functions in host cells.In this review,we summarize the role of the HBx and preS/S proteins in pro-moting tumorigenesis.In addition to summarizing the specific mechanism of HBV-related tumorigen-esis,the concerns and perspectives for future study are discussed.
6.Influencing factors for failed cardiopulmonary resuscitation in patients with respiratory and cardiac arrest
Xiting DANG ; Jun YU ; Huini FU ; Shuzhen WANG ; Qiaoling ZHANG
Journal of Clinical Medicine in Practice 2025;29(11):100-104
Objective To investigate influencing factors for failed cardiopulmonary resuscitation(CPR)in patients with respiratory and cardiac arrest.Methods A retrospective analysis was con-ducted on the clinical data of 204 patients with respiratory and cardiac arrest.All patients underwent CPR treatment and were divided into success group and failure group based on the CPR outcome.A matched case-control study based on matching design was carried out.The success and failure groups were matched at a ratio of 1 to 2 using gender,age,body mass index(BMI),and the presence or absence of hypertension,hyperlipidemia,and diabetes as covariates.Logistic regression analysis was employed to explore the influencing factors for failed CPR in patients with respiratory and cardiac ar-rest.Results Among the 204 patients,65(31.86%)had successful CPR and were included in success group,while 139(68.14%)had failed CPR and were included in failure group.After a rati-o of 1 to 2 matching design,62 patients in the success group and 124 patients in the failure group were finally included in the study.Multivariate logistic regression analysis revealed that cardiovascular disease as the cause of respiratory and cardiac arrest,CPR performed outside the hospital,a long time interval from the onset of the condition to the initiation of CPR,and a large dose of epinephrine were independent risk factors for failed CPR(P<0.05).In contrast,the combined use of a bag-mask de-vice and endotracheal intubation during respiratory and cardiac arrest,a prolonged duration of CPR,and electrical defibrillation were independent protective factors for successful CPR(P<0.05).Con-clusion Cardiovascular disease,out-of-hospital CPR,a long time interval from the onset of the condi-tion to the initiation of CPR,and a large dose of epinephrine are risk factors for failed CPR in patients with respiratory and cardiac arrest.The combined use of a bag-mask device and endotracheal intubation during respiratory and cardiac arrest,prolonging the duration of CPR,and electrical defibrillation are protective factors for successful CPR.The matched case-control study method based on a matc-hing design can reduce the interference of confounding factors,ensure the reliability of the results,and provide a reliable basis for the formulation of CPR intervention protocols.
7.Establishment and evaluation of an animal model of heart failure with preserved ejection fraction integrating disease and syndrome based on the "deficiency-blood stasis-toxin" pathogenesis
Xiaoqi WEI ; Xinyi FAN ; Feng JIANG ; Wangjing CHAI ; Jinling XIAO ; Fanghe LI ; Kuo GAO ; Xue YU ; Wei WANG ; Shuzhen GUO
Journal of Beijing University of Traditional Chinese Medicine 2025;48(4):501-515
Objective:
This study aimed to construct an animal model of heart failure with preserved ejection fraction (HFpEF) that integrates disease and syndrome based on the "deficiency-blood stasis-toxin" pathogenesis and to evaluate it comprehensively.
Methods:
The HFpEF mouse model was constructed using a combination of Nω-nitro-L-arginine methyl ester (L-NAME) and a high-fat diet. According to the random number table method, SPF-grade male C57BL/6J mice were randomly assigned to the control, L-NAME, high-fat diet, and model groups, 10 in each group. Comprehensive observations and data collection on macroscopic signs (e.g., fur condition, mental state, stool and urine, oral and nasal condition, paw and body condition, etc.) and cardiac function were performed after 10 and 16 weeks of model induction. Additionally, the syndrome evolution was elucidated based on diagnostic criteria for clinical syndromes of heart failure. Furthermore, pathological and molecular biological examinations of myocardial tissue were performed to assess the stability and reliability of the model.
Results:
Mice in the model group showed typical characteristics of syndrome of qi deficiency and blood stasis, as well as syndrome of internal heat accumulation, including lethargy, slow response, dull paw color and oral/nasal color, exercise intolerance, abnormal platelet activation, dry feces, and dark yellow urine. The time window for these syndromes was between 10 and 16 weeks post-modeling. Cardiac function assessments revealed severe diastolic dysfunction, concentric myocardial hypertrophy, and myocardial fibrosis in the model group. Pathological examinations showed a significantly increased collagen deposition in the myocardial interstitium, enlarged cross-sectional area of cardiomyocytes, and sparse coronary microvasculature in the model group. Molecular biological analyses indicated marked activation of the inducible nitric oxide synthase/nuclear factor kappa-light-chain-enhancer of activated B cells/NOD-like receptor family pyrin domain containing 3 inflammatory pathway and significantly elevated inflammation levels in the myocardial tissue of the model group. Although mice in the L-NAME and high-fat diet groups also showed certain manifestations of qi deficiency syndrome, the substantial cardiac damage was relatively limited compared to the control group.
Conclusion
This study has constructed an animal model of HFpEF that integrates disease and syndrome based on the "deficiency-blood stasis-toxin" pathogenesis. The macroscopic and microscopic characteristics of this model are consistent with the manifestations of syndrome of qi deficiency and blood stasis, toxin syndrome, and syndrome of internal heat accumulation. Moreover, it can stably simulate the HFpEF state and reflect phenotypic changes in human disease. This model provides a suitable experimental platform to explore the pathogenesis of HFpEF, evaluate the effectiveness of traditional Chinese medicine (TCM) treatment regimens, and promote in-depth research on TCM syndromes of heart failure.
8.Expert Consensus on Clinical Diseases Responding Specifically to Traditional Chinese Medicine:Aural Vertigo
Yingdi GONG ; Zhanfeng YAN ; Wei FENG ; Daxin LIU ; Jiaxi WANG ; Jianhua LIU ; Yu ZHANG ; Shusheng GONG ; Guopeng WANG ; Chunying XU ; Xin MA ; Bo LI ; Shuzhen GUO ; Mingxia ZHANG ; Jinfeng LIU ; Jihua GUO ; Zhengkui CAO ; Xiaoxiao ZHANG ; Zhonghai XIN
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(8):215-222
Aural vertigo frequently encountered in the otolaryngology department of traditional Chinese medicine (TCM) mainly involves peripheral vestibular diseases of Western medicine, such as Meniere's disease, benign paroxysmal positional vertigo, vestibular neuritis, and vestibular migraine, being a hot research topic in both TCM and Western medicine. Western medical therapies alone have unsatisfactory effects on recurrent aural vertigo, aural vertigo affecting the quality of life, aural vertigo not relieved after surgery, aural vertigo with complex causes, and children's aural vertigo. The literature records and clinical practice have proven that TCM demonstrates unique advantages in the treatment of aural vertigo. The China Association of Chinese medicine sponsored the "17th youth salon on the diseases responding specifically to TCM: Aural vertigo" and invited vertigo experts of TCM and Western medicine to discuss the difficulties and advantages of TCM diagnosis and treatment of aural vertigo. The experts deeply discussed the achievements and contributions of TCM and Western medicine in the diagnosis and treatment of aural vertigo, the control and mitigation of the symptoms, and the solutions to disease recurrence. The discussion clarified the positioning and advantages of TCM treatment and provided guidance for clinical and basic research on aural vertigo.
9.A qualitative study of family caregivers'experiences of caring for adolescents with first-episode depression
Tingting CHEN ; Runchao WANG ; Shuzhen ZHU ; Chao SUN ; Longti LI
Chinese Mental Health Journal 2024;38(2):138-143
Objective:To explore the care experience of caregivers of adolescents with first-episode depres-sion.Methods:Nine family caregivers of adolescent with first-episode depression were enrolled.A qualitative re-search was carried out,and semi-structured interviews were performed to investigate the caregivers'opinion of de-pressive disorder,emotional state,caring experiences and dilemma,coping strategy,and support requirements.The data were analyzed,summarized and distilled by using the Colaizzi phenomenological 7-step analysis.Results:Four kinds of first order themes of caring experiences(complex caring experience,heavy burden of care,yearn for sup-port,achieved post-traumatic growth)were extracted,including 10 kinds of second order themes,namely shock and disbelief,pessimism and helplessness,guilt and stigma,inefficient coping strategy,impaired physical and mental health,heavy economic burden,family relationship tension,changed personal role,lack of medical support,dying to be admitted by society.Conclusion:Family caregivers of adolescent with first-episode depression may have obvious negative emotions,which faced with caring dilemma such as impaired health status or heavy economic burden,and urgently need professional resources and social support.
10.Efficacy of retrograde intramedullary nailing in managing tibial osteofibrous dysplasia in pediatric patients
Zhaoqiang CHEN ; Jianping YANG ; Zhongli ZHANG ; Yongcheng HU ; Zhe FU ; Kan WANG ; Shuzhen DENG
Chinese Journal of Orthopaedics 2024;44(5):308-314
Objective:To delineate the surgical methodology and therapeutic paradigm of proximal tibial notch retrograde interlocking intramedullary nailing for ameliorating deformities due to osteofibrous dysplasia (OFD) in a pediatric population.Methods:A retrospective assessment was conducted on the medical records of individuals undergoing orthopedic osteotomy complemented by retrograde interlocking intramedullary nailing for OFD of the tibia from January 2016 to December 2019. The cohort comprised 15 patients, with a follow-up exceeding three years, documenting complete data sets. The patient profile included 8 males and 7 females, with 8 left-side and 7 right-side afflictions. The mean age at the time of surgery was 10.1±2.5 years, ranging from 7.1 to 12.6 years. Parameters measured were preoperative and postoperative imaging findings, which encompassed the scope of the lesion (longitudinal lesion length relative to tibial length), coronal and sagittal limb alignments, and lower limb length discrepancies.Results:The mean follow-up duration was 3.4±1.3 years, ranging from 3 to 6.6 years. Preoperatively, prominent anterior tibial arch deformities and limping were present, with 7 cases reporting fatigue-induced pain and 3 instances of pathological fractures. Post-surgery, pain symptoms were resolved, gait disturbances were improved in 9 patients, and completely resolved in 6. Tibial osteotomy or fracture healing of 15 patients averaged 3.9±0.7 months (range 3-5 months). The lesion range before surgery was 0.41±0.17, immediately after surgery was 0.38±0.17, and at the last follow-up was 0.30±0.16, with no statistical significance ( F=0.101, P=0.904). Lesion range showed no significant change throughout treatment, but radiographic density within the lesion notably increased post-surgery, suggesting bone improvement. The anterior tibial arch Angle was 28.30°±6.62° (range 20°-45°) before surgery, 4.73°±1.53° immediately after surgery, and 6.87°±1.36° at the last follow-up, with statistical significance ( F=159.739, P<0.001). A significant correction in the anterior tibial arch deformity was achieved and maintained postoperatively. There was no significant angular deformity of the tibia in the coronal plane before operation, and the medial proximal tibial angle (MPTA) and lateral distal tibial angle (LDTA) were 87.50°±1.46° and 88.30°±1.62°, 88.40°±1.46° and 88.70°±1.45° immediately after surgery, and 88.00°±1.39° and 89.10°±1.53° at the last follow-up, the differences were statistically significant ( F=1.741, P=0.188; F=1.016, P=0.371), there was no coronal deformity of tibia. The limb length discrepancy (LLD) was 0.60±0.98 cm before surgery, 0.18±0.93 cm at the last follow-up, with statistical significance ( t=0.096, P=0.761). There were no incidents of postoperative complications such as infection. Conclusion:In pediatric cases of tibial deformities attributed to osteofibrous dysplasia, a therapeutic strategy involving osteotomy for lower limb realignment, sans curettage or bone grafting of the lesion, followed by retrograde interlocking intramedullary nailing, yields favorable outcomes. Importantly, this implantation technique does not compromise the integrity of the proximal tibial epiphyseal plate in children and adolescents.


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