1.Genetic analysis of cases from a family with reduced B antigen expression in ABO blood group system
Taimei ZHOU ; Yingchun YANG ; Zihao ZHAO ; Weizhen XU ; Zishan JIAN ; Tongping YANG
Chinese Journal of Blood Transfusion 2025;38(5):717-722
Objective: To classify the ABO blood group phenotypes of 5 cases from a family, and to explore the molecular mechanism for reduced B antigen expression in ABO blood group system. Methods: Serological identification of the ABO blood group was performed using microcolumn gel assay and saline tube method. The soluble antigens in saliva were detected by the agglutination inhibition assay. The full-length sequences and upstream promoter regions of ABO gene were sequenced for genotyping using PacBio SMRT sequencing technology. Results: The results of serological tests indicated the expression of B antigen decreased in 3 out of 5 blood samples. A mixed-field agglutination was observed with anti-B antibody. B antigen was not detected in all 5 saliva samples. The ABO genotype for all samples were ABO
B.01/ABO
O.01.02, and a novel mutation c. 28+5875C>T within the DNA-binding region of RUNX1 in +5.8-kb site were found in the B allele for 3 samples with reduced expression of B antigen. Conclusion: Results of serological and genetic analyses classify the 3 cases with reduced B antigen expression as B
phenotype. The novel mutation c. 28+5875C>T of RUNX1 could be the key reason for reduced B antigen expression in 3 cases with B
phenotype.
2.Correlation between environmental factors and pediatric respiratory disease visits in a central hospital of Shanghai
ZHOU Shuangshuang, CAI Yizhou, MIAO Xueqin, ZHANG Lili, ZHOU Yibin, HE Dandan, LIU Jie, HU Yanqi
Chinese Journal of School Health 2025;46(5):708-711
Objective:
To explore the correlation and lag effects of environmental factors on pediatric respiratory disease visits at hospital, so as to provide scientific basis for disease prediction and optimizing clinical diagnosis and treatment.
Methods:
Data from 503 889 pediatric respiratory disease outpatient and emergency visits a central hospital in Minhang District of Shanghai between 2017 and 2019, along with concurrent meteorological data were collected. A distributed lag non-linear models (DLNM) was constructed to explore the specific relationship between pediatric respiratory disease consultations and various environmental factors and to quantify the cumulative lag effects of environmental factors on respiratory disease consultations.
Results:
Among the environmental factors, temperature, fine particulate matter (PM 2.5 ), inhalable particulate matter (PM 10 ), nitrogen dioxide (NO 2), and sulfur dioxide (SO 2) were associated with pediatric respiratory disease visits. After adjusting for temperature, PM 2.5 and PM 10 concentrations did not show significant immediate or lag effects. The relative risk (RR) of pediatric respiratory disease visits increased with rising NO 2 concentrations. When NO 2 concentration ≥55 μg/m 3, significant immediate and lagged effects (lag 3, 5, and 7 days) were observed. The RR values were 1.05, 1.13, 1.17, and 1.21( P <0.05). The RR values showed an inverted “U” shaped relationship with SO 2 concentrations. When SO 2 concentration ≥5 μg/m 3, significant lagged effects (lag 3, 5, and 7 days) were observed. The RR values were 1.03 , 1.03, and 1.04 ( P <0.05).
Conclusion
High concentrations of NO 2 and SO 2 increase the risk of pediatric respiratory disease visits, with observable lag effects.
3.Aberrant fragmentomic features of circulating cell-free mitochondrial DNA enable early detection and prognosis prediction of hepatocellular carcinoma
Yang LIU ; Fan PENG ; Siyuan WANG ; Huanmin JIAO ; Kaixiang ZHOU ; Wenjie GUO ; Shanshan GUO ; Miao DANG ; Huanqin ZHANG ; Weizheng ZHOU ; Xu GUO ; Jinliang XING
Clinical and Molecular Hepatology 2025;31(1):196-212
Background/Aims:
Early detection and effective prognosis prediction in patients with hepatocellular carcinoma (HCC) provide an avenue for survival improvement, yet more effective approaches are greatly needed. We sought to develop the detection and prognosis models with ultra-sensitivity and low cost based on fragmentomic features of circulating cell free mtDNA (ccf-mtDNA).
Methods:
Capture-based mtDNA sequencing was carried out in plasma cell-free DNA samples from 1168 participants, including 571 patients with HCC, 301 patients with chronic hepatitis B or liver cirrhosis (CHB/LC) and 296 healthy controls (HC).
Results:
The systematic analysis revealed significantly aberrant fragmentomic features of ccf-mtDNA in HCC group when compared with CHB/LC and HC groups. Moreover, we constructed a random forest algorithm-based HCC detection model by utilizing ccf-mtDNA fragmentomic features. Both internal and two external validation cohorts demonstrated the excellent capacity of our model in distinguishing early HCC patients from HC and highrisk population with CHB/LC, with AUC exceeding 0.983 and 0.981, sensitivity over 89.6% and 89.61%, and specificity over 98.20% and 95.00%, respectively, greatly surpassing the performance of alpha-fetoprotein (AFP) and mtDNA copy number. We also developed an HCC prognosis prediction model by LASSO-Cox regression to select 20 fragmentomic features, which exhibited exceptional ability in predicting 1-year, 2-year and 3-year survival (AUC=0.8333, 0.8145 and 0.7958 for validation cohort, respectively).
Conclusions
We have developed and validated a high-performing and low-cost approach in a large clinical cohort based on aberrant ccf-mtDNA fragmentomic features with promising clinical translational application for the early detection and prognosis prediction of HCC patients.
4.Aberrant fragmentomic features of circulating cell-free mitochondrial DNA enable early detection and prognosis prediction of hepatocellular carcinoma
Yang LIU ; Fan PENG ; Siyuan WANG ; Huanmin JIAO ; Kaixiang ZHOU ; Wenjie GUO ; Shanshan GUO ; Miao DANG ; Huanqin ZHANG ; Weizheng ZHOU ; Xu GUO ; Jinliang XING
Clinical and Molecular Hepatology 2025;31(1):196-212
Background/Aims:
Early detection and effective prognosis prediction in patients with hepatocellular carcinoma (HCC) provide an avenue for survival improvement, yet more effective approaches are greatly needed. We sought to develop the detection and prognosis models with ultra-sensitivity and low cost based on fragmentomic features of circulating cell free mtDNA (ccf-mtDNA).
Methods:
Capture-based mtDNA sequencing was carried out in plasma cell-free DNA samples from 1168 participants, including 571 patients with HCC, 301 patients with chronic hepatitis B or liver cirrhosis (CHB/LC) and 296 healthy controls (HC).
Results:
The systematic analysis revealed significantly aberrant fragmentomic features of ccf-mtDNA in HCC group when compared with CHB/LC and HC groups. Moreover, we constructed a random forest algorithm-based HCC detection model by utilizing ccf-mtDNA fragmentomic features. Both internal and two external validation cohorts demonstrated the excellent capacity of our model in distinguishing early HCC patients from HC and highrisk population with CHB/LC, with AUC exceeding 0.983 and 0.981, sensitivity over 89.6% and 89.61%, and specificity over 98.20% and 95.00%, respectively, greatly surpassing the performance of alpha-fetoprotein (AFP) and mtDNA copy number. We also developed an HCC prognosis prediction model by LASSO-Cox regression to select 20 fragmentomic features, which exhibited exceptional ability in predicting 1-year, 2-year and 3-year survival (AUC=0.8333, 0.8145 and 0.7958 for validation cohort, respectively).
Conclusions
We have developed and validated a high-performing and low-cost approach in a large clinical cohort based on aberrant ccf-mtDNA fragmentomic features with promising clinical translational application for the early detection and prognosis prediction of HCC patients.
5.Efficacy comparison of small-incision lenticule extraction and femtosecond assisted laser in situ keratomileusis in the treatment of myopia with astigmatism
Min ZHOU ; Suying YU ; Wanjiang DONG ; Long CHEN ; Miao HE
International Eye Science 2025;25(2):292-296
AIM: To compare the efficacy of small-incision lenticule extraction(SMILE)and femtosecond assisted laser in situ keratomileusis(FS-LASIK)in the treatment of patients with myopia and astigmatism.METHODS: Retrospective analysis. A total of 100 cases(200 eyes)of patients with myopia and astigmatism treated in our hospital from December 2021 to December 2022 were collected. Among them, 50 cases(100 eyes)were divided into SMILE group and 50 cases(100 eyes)were divided into FS-LASIK group according to the treatment plans. The visual acuity and astigmatism, corneal morphology parameters, subjective visual quality scores, ocular surface indicators, postoperative complications, and quality of life were compared between the two groups before and after surgery.RESULTS: There was no significant difference in uncorrected visual acuity(UCVA), best corrected visual acuity(BCVA), astigmatism, corneal asphericity Q value, corneal surface regularity index(SRI), corneal thickness, and corneal curvature between the two groups before surgery and at 1 d, 1, and 6 mo after surgery(all P>0.05). At 1 and 6 mo after surgery, the subjective visual quality score, the quality of life score, Schirmer I test(SⅠt)and tear film break-up time(BUT)in the SMILE group were better than that in the FS-LASIK group(all P<0.05). The incidence of complications in the SMILE group was lower than that in the FS-LASIK group at 6 mo after surgery(P=0.005).CONCLUSION: Both SMILE and FS-LASIK have good clinical effects in the treatment of myopia with astigmatism, but the SMILE could alleviate ocular surface injury, reduce the risk of complications and improve the quality of lifes for patients.
6.Textual Research and Application of Famous Classical Formula Huopo Xialingtang
Miao YU ; Huikang ZHANG ; Xiaofan QI ; Fuping LI ; Jichun ZHOU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(3):192-200
Huopo Xialingtang is a famous classical formula for treating dampness and warmth, which is included in the Catalogue of Ancient Famous Classical Formulas(The First Batch). In this paper, bibliometric methods was used to collect the literature related to Huopo Xialingtang, and 16 items of related literature were retrieved, involving five medical books, which were used to textual research on the origin, name, composition, drug dosage, preparation method, processing and main treatment symptoms of this formula. The results indicated that Huopo Xialingtang was originated from Yiyuan written by Shi Funan in the Qing dynasty, and and was later named and extended by He Lianchen. The composition of the proposed formula was consistent with the record of Yiyuan, and the origin of each Chinese materia medica was basically clear. Houpo was the dried bark and root bark of Magnolia officinalis, Zexie was the dried tubers of Alisma orientale, Kuxingren was the dried mature seeds of Prunus armeniaca, Doukou was the dried mature fruits of Amomum kravanh, the origin of Tuhuoxiang was consistent with the 2018 edition of Shanghai Standards of Processing Chinese Crud Drugs, and the origins of the remaining Chinese medicines were consistent with the 2020 edition of Chinese Pharmacopoeia. The converted dose of each Chinese medicine was 7.46 g for Agastache rugosa, 3.73 g for Magnoliae Officinalis Cortex, 8.39 g for Pinelliae Rhizoma Praeparatum cum Zingibere et Alumine, 11.19 g for Poria, 11.19 g for Armeniacae Semen Amarum, 14.92 g for Coicis Semen, 2.61 g for Amomi Fructus Rotundus, 5.60 g for Polyporus, 5.60 g for Alismatis Rhizoma, 14.92 g for Tetrapanacis Medulla. Huopo Xialingtang was initially used for the treatment of dampness and warmth at the beginning of the disease, and was later expanded to treat dampness obstruction, dampness-warming dysentery and so on, but always with the dampness-heat in the lungs and spleen as the pathogenesis. In modern times, the clinical application is more extensive, used in digestive, respiratory, endocrine, nervous system and other types of diseases, especially for chronic gastritis, stomach pain and fever. By combing the ancient literature of Huopo Xialingtang, we verified the origin of the formula and determined the key information of the prescription, which can provide literature reference for the clinical application and drug development of this formula.
7.Aberrant fragmentomic features of circulating cell-free mitochondrial DNA enable early detection and prognosis prediction of hepatocellular carcinoma
Yang LIU ; Fan PENG ; Siyuan WANG ; Huanmin JIAO ; Kaixiang ZHOU ; Wenjie GUO ; Shanshan GUO ; Miao DANG ; Huanqin ZHANG ; Weizheng ZHOU ; Xu GUO ; Jinliang XING
Clinical and Molecular Hepatology 2025;31(1):196-212
Background/Aims:
Early detection and effective prognosis prediction in patients with hepatocellular carcinoma (HCC) provide an avenue for survival improvement, yet more effective approaches are greatly needed. We sought to develop the detection and prognosis models with ultra-sensitivity and low cost based on fragmentomic features of circulating cell free mtDNA (ccf-mtDNA).
Methods:
Capture-based mtDNA sequencing was carried out in plasma cell-free DNA samples from 1168 participants, including 571 patients with HCC, 301 patients with chronic hepatitis B or liver cirrhosis (CHB/LC) and 296 healthy controls (HC).
Results:
The systematic analysis revealed significantly aberrant fragmentomic features of ccf-mtDNA in HCC group when compared with CHB/LC and HC groups. Moreover, we constructed a random forest algorithm-based HCC detection model by utilizing ccf-mtDNA fragmentomic features. Both internal and two external validation cohorts demonstrated the excellent capacity of our model in distinguishing early HCC patients from HC and highrisk population with CHB/LC, with AUC exceeding 0.983 and 0.981, sensitivity over 89.6% and 89.61%, and specificity over 98.20% and 95.00%, respectively, greatly surpassing the performance of alpha-fetoprotein (AFP) and mtDNA copy number. We also developed an HCC prognosis prediction model by LASSO-Cox regression to select 20 fragmentomic features, which exhibited exceptional ability in predicting 1-year, 2-year and 3-year survival (AUC=0.8333, 0.8145 and 0.7958 for validation cohort, respectively).
Conclusions
We have developed and validated a high-performing and low-cost approach in a large clinical cohort based on aberrant ccf-mtDNA fragmentomic features with promising clinical translational application for the early detection and prognosis prediction of HCC patients.
8.Protective effects and mechanisms of sodium pyruvate on storage lesions in human red blood cells
Haoning CHEN ; Qi MIAO ; Qiang GAO ; Xin SUN ; Shunyu MEI ; Li WANG ; Yun LIAN ; Honglin LUO ; Chenjie ZHOU ; Hao LI
Chinese Journal of Blood Transfusion 2025;38(6):833-838
Objective: To investigate the protective effects and underlying mechanisms of sodium pyruvate (SP) on RBC storage lesions using an oxidative damage model. Methods: Six units of leukocyte-depleted suspended RBCs (discarded for non-infectious reasons within three days post-collection) were randomly assigned to four groups: negative control (NS), positive control (PS), experimental group 1 (SP1), and experimental group 2 (SP2). Oxidative stress was induced in the PS group by the addition of hydrogen peroxide (H
O
), while SP1 and SP2 received SP supplementation at different concentrations (25 mM and 50 mM, respectively) in the presence of H
O
. After 1 hour of incubation, RBC morphology was assessed microscopically, and biochemical indicators including glutathione (GSH), malondialdehyde (MDA), methemoglobin (MetHb), adenosine triphosphate (ATP), and Na
/K
-ATPase activity were measured. Results: RBCs in the PS group exhibited pronounced morphological damage, including cell shrinkage and echinocyte formation, whereas both SP-treated groups showed significantly reduced structural injury. SP treatment led to elevated GSH levels and decreased concentrations of MDA and MetHb, suggesting attenuation of oxidative stress. Additionally, SP enhanced intracellular ATP levels and Na
/K
-ATPase activity, thereby contributing to membrane stability. Notably, the SP2 group (50 mM) demonstrated superior protective effects compared to SP1 (25 mM). Conclusion: Sodium pyruvate effectively attenuates oxidative storage lesions in RBCs, primarily through its antioxidant properties, energy metabolism supporting ability, and celluar membrane stabilizing function. These findings suggest SP as a promising additive for enhancing the quality and safety of stored RBCs.
9.Analysis of Animal Models of Primary Dysmenorrhea Based on Clinical Features in Traditional Chinese and Western Medicine
Qinghua WANG ; Yu HUAN ; Shuangling ZHOU ; Ting ZUO ; Mingsan MIAO
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(17):220-226
ObjectiveTo systematically review the modeling methods and analyzes the model alignment with clinical features of primary dysmenorrhea (PD) in both traditional Chinese medicine (TCM) and western medicine, providing theoretical and practical guidance for establishing the animal models of PD that better reflect the diagnostic and therapeutic characteristics of both TCM and western medicine. MethodsThe literature on PD animal models was searched against domestic and international databases such as PubMed, CNKI, and Wanfang Data. According to the diagnostic criteria of TCM and western medicine, the modeling methods in the literature were summarized, evaluated for strengths and weaknesses, and systematically assessed for clinical concordance rates to identify suitable reference models. ResultsThe available animal models of PD showed the average clinical concordance rates of 43.64% and 61.27% with the clinical features in TCM and western medicine, respectively. Commonly used modeling methods included estrogen administration, physical stimulation, and surgical intervention, with the estrogen combined with oxytocin model and the ice-water bath model being the most studied. The model of Qi stagnation and blood stasis syndrome that was established with the comprehensive stimulation method demonstrated the highest clinical concordance rate. ConclusionCurrent PD animal models primarily replicate dysmenorrhea and simulate menstruation, but they differ from human menstruation to some extent and cannot fully reflect the pathogenesis and physiological characteristics of PD. Moreover, except the cold coagulation and dampness stagnation syndrome and Qi stagnation and blood stasis syndrome, no animal models for other TCM syndromes have been reported, which limits comprehensive TCM research on this disease to a certain extent.
10.Analysis of Animal Models of Primary Dysmenorrhea Based on Clinical Features in Traditional Chinese and Western Medicine
Qinghua WANG ; Yu HUAN ; Shuangling ZHOU ; Ting ZUO ; Mingsan MIAO
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(17):220-226
ObjectiveTo systematically review the modeling methods and analyzes the model alignment with clinical features of primary dysmenorrhea (PD) in both traditional Chinese medicine (TCM) and western medicine, providing theoretical and practical guidance for establishing the animal models of PD that better reflect the diagnostic and therapeutic characteristics of both TCM and western medicine. MethodsThe literature on PD animal models was searched against domestic and international databases such as PubMed, CNKI, and Wanfang Data. According to the diagnostic criteria of TCM and western medicine, the modeling methods in the literature were summarized, evaluated for strengths and weaknesses, and systematically assessed for clinical concordance rates to identify suitable reference models. ResultsThe available animal models of PD showed the average clinical concordance rates of 43.64% and 61.27% with the clinical features in TCM and western medicine, respectively. Commonly used modeling methods included estrogen administration, physical stimulation, and surgical intervention, with the estrogen combined with oxytocin model and the ice-water bath model being the most studied. The model of Qi stagnation and blood stasis syndrome that was established with the comprehensive stimulation method demonstrated the highest clinical concordance rate. ConclusionCurrent PD animal models primarily replicate dysmenorrhea and simulate menstruation, but they differ from human menstruation to some extent and cannot fully reflect the pathogenesis and physiological characteristics of PD. Moreover, except the cold coagulation and dampness stagnation syndrome and Qi stagnation and blood stasis syndrome, no animal models for other TCM syndromes have been reported, which limits comprehensive TCM research on this disease to a certain extent.


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