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.Advances in extracellular vesicles for the diagnosis and treatment of corneal and ocular surface diseases
Zhihao ZHANG ; Jiahao WANG ; Qihang DIAO ; Jingjing ZHAO ; Mengjun FU
International Eye Science 2026;26(8):1365-1370
Extracellular vesicles(EVs)are nanoscale membrane vesicles released by cells that carry bioactive molecules such as proteins and nucleic acids. They play a key role in intercellular communication. In recent years, they have shown significant potential in the diagnosis and treatment of corneal and ocular surface diseases. As diagnostic biomarkers, EVs derived from tears or other sources can reflect disease-specific characteristics, providing a basis for the early disease detection. In terms of therapy, mesenchymal stem cells(MSCs)-derived EVs deliver miRNAs to modulate inflammatory pathways, promote corneal epithelial repair, and inhibit fibrosis. Furthermore, as natural drug vehicles, EVs enable precise delivery of therapeutic agents and promote corneal wound healing. This review systematically summarizes the recent research advances in the application of EVs in the field.
3.Treatment of Children Adenoid Hypertrophy Using the "Opening the Orifices and Regulating Qi Method"
Zhihao DIAO ; Shuai SONG ; Jingzhi ZHANG ; Yiyang SUN ; Dongqing DU ; Longtao ZHANG ; Yufei HU ; Yuxia MA
Journal of Traditional Chinese Medicine 2026;67(18):2011-2015
This paper summarizes the clinical experience in treating children adenoid hypertrophy using the "opening the orifices and regulating qi method". It is considered that the pathogenesis of adenoid hypertrophy in children is rooted in dysfunction of zangfu (脏腑) organs, with binding of phlegm and stasis as the branch. Obstruction of the cervical passes and rebellious, chaotic qi flow run through the entire course of the disease. The "opening the orifices and regulating qi method" is proposed, which emphasizes the regulation of the lung, spleen, liver, and stomach. By opening the cervical passes, regulating zangfu organs, and eliminating phlegm and stasis to harmonize the ascent and descent of qi, a comprehensive application of external traditional Chinese medicine (TCM) therapies, such as acupuncture, umbilical moxibustion with medicinals, collateral bloodletting, and sole therapy, is utilized. Addressing both root and branch causes, this approach provides new perspectives for treating children adenoid hypertrophy using external TCM therapies.
4.The Clinical and Genetics Characteristics of Oculopharyngodistal Myopathy
Jiaxi YU ; Zhihao QUAN ; Yilei ZHENG ; Jing AN ; Jing LIU ; Qingqing WANG ; Lingchao MENG ; Meng YU ; Zhiying XIE ; Jianwen DENG ; He LYU ; Wei ZHANG ; Yun YUAN ; Zhaoxia WANG
JOURNAL OF RARE DISEASES 2026;5(2):164-174
To analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes. A total of 65 genetically confirmed OPDM patients from 43 unrelated families, who were admitted to the Department of Neurology, Peking University First Hospital between January 2008 and December 2025, were retrospectively included.The general demographic data, clinical manifestations, laboratory/auxiliary examinations, muscle pathology, and genetic test results were systematically collected and analyzed. The clinical and pathological characteristics among different OPDM subtypes were compared. Among the 65 patients(39 male and 26 female), the mean age of onset was (31.20±10.43) years (range: 14 to 63 years). The initial symptom was predominantly distal limb weakness (67.44%), which gradually progressed to involve the extraocular muscles, pharyngeal muscles, facial muscles and proximal limb muscles. Serum creatine kinase levels were mildly to moderately elevated. Muscle pathological examinations revealed rimmed vacuoles and intranuclear inclusions (within muscle fibers). The mean duration from onset to diagnosis was (12.33±7.88) years (range: 1 to 32 years). All probands had negative results on conventional next-generation whole-exome sequencing; pathogenic variants were identified through third-generation long-read sequencing or OPDM-targeted repeat-primed polymerase chain reaction(RP-PCR). Among the 43 families, OPDM2 subtype was the most common genetic subtype ( OPDM2 was the predominant subtype in this study. All subtypes share similar age of onset and muscular pathological changes, yet exhibit distinct disease progression patterns. Future multicenter prospective cohort studies are warranted to further elucidate the clinical characteristics, pathogenetic mechanisms, and prognostic differences among OPDM subtypes.
5.Effect of esketamine on caspase-11-mediated non-canonical pathway pyroptosis in sepsis-induced acute lung injury in rats
Yunfei BAO ; Zhihao FENG ; Yanyan NIU ; Qing HU ; Haijie LIU ; Hongbo ZHANG ; Jianling LI
Chinese Journal of Anesthesiology 2025;45(3):364-368
Objective:To evaluate the effect of esketamine on caspase-11-mediated non-canonical pathway pyroptosis in sepsis-induced acute lung injury in rats.Methods:Eighteen SPF healthy Sprague-Dawley rats, aged 8-12 weeks, weighing 280-320 g, were divided into 3 groups ( n=6 each) using a random number table method: sham operation group (Sham group), cecal ligation and puncture (CLP) group and CLP+ esketamine group (CLP+ ES group). Sepsis was induced by CLP in anesthetized animals. Esketamine 10 mg/kg was injected via the tail vein immediately after development of the model, and the equal volume of normal saline was injected via the tail vein in the other two groups. At 24 h after development of the model, the rats were sacrificed under anesthesia, and the lung tissues and blood samples were taken. The wet to dry lung weight ratio (W/D ratio) was calculated, and the pathological changes were observed and the lung injury was scored. The expression of caspase-11, gasdermin D-N (GSDMD-N), phosphorylated phosphatidylinositol 3-kinase (p-PI3K) and phosphorylated protein kinase B (p-AKT) was detected by Western blot. The expression of caspase-11 and GSDMD-N mRNA was detected by quantitative real-time polymerase chain reaction. The serum concentration of interleukin-1β (IL-1β) was determined by enzyme-linked immunosorbent assay. Results:Compared with Sham group, the lung injury score and W/D ratio were significantly increased, the expression of caspase-11 and GSDMD-N protein and mRNA was up-regulated, the expression of p-PI3K and p-AKT was down-regulated, and the concentration of IL-1β was increased in CLP group ( P<0.05). Compared with CLP group, the lung injury score and W/D ratio were significantly decreased, the expression of caspase-11 and GSDMD-N protein and mRNA was down-regulated, the expression of p-PI3K and p-AKT was up-regulated, and the concentration of IL-1β was decreased in CLP+ ES group ( P<0.05). Conclusions:The mechanism by which esketamine alleviates sepsis-induced acute lung injury may be related to the inhibition of caspase-11-mediated non-canonical pathway pyroptosis in rats.
6.Prediction model and feature analysis of pneumonia hospitalization duration based on CT radiomics and clinical indicators
Xiaofen SUN ; Zhihao WU ; Yinan ZHANG ; Jinhan ZHANG ; Jianqiang CHEN
Chinese Journal of Preventive Medicine 2025;59(10):1741-1747
Objective:To analyze clinical indicators and imaging data of hospitalized pneumonia patients and develop prediction models for length of hospital stay based on CT radiomics features and clinical indicators.Methods:Patients admitted to the First Clinical School of Hainan Medical University for pneumonia treatment between November 2020 and May 2024 were enrolled. Clinical data and CT imaging were collected, and radiomics features were extracted. Patients were divided into three groups based on the length of stay (<8 d, 8-28 d,>28 d, and poor prognosis). Three prediction models were constructed using logistic regression (LR): clinical features model, imaging features model and a combined clinical and imaging features model. The predictive performance of three models was evaluated using the area under the receiver operating characteristic (ROC) curve and DeLong test, followed by feature analysis. The Kappa test was used to compare the consistency of the overall classification.Results:A total of 343 subjects were included, with an average age of 61.46±20.98 years. The area under the curve (AUC) values of the combined model in different hospitalization duration classifications (<8 d, 8-28 d,>28 d, and poor prognosis) were 0.73, 0.65 and 0.78 in the training set, and 0.71, 0.65 and 0.76 in the validation set, respectively. The AUC values of the clinical feature model in different hospitalization duration classifications were 0.63, 0.64 and 0.73 in the training set, and 0.60, 0.52 and 0.63 in the validation set, respectively. The AUC values of the imaging feature model in different hospitalization duration classifications (<8 d, 8-28 d,>28 d, and poor prognosis) were 0.67, 0.66 and 0.73 in the training set, and 0.68, 0.54 and 0.66 in the validation set, respectively. The DeLong test results showed that the combined model outperformed other models in hospitalization duration classification (validation set AUC, all P<0.05, Bonferroni correction). Kappa test results showed that the combined model achieved the highest consistency between predicted classifications and actual hospitalization classifications ( K=0.615). Shape features, texture features and clinical features all contributed proportionally to the combined model. Conclusion:The combined model integrating radiomics features with clinical indicators can significantly enhance the predictive efficacy for the length of hospitalization in pneumonia patients.
7.Retrospective epidemiological analysis of fungal infection of a hospital from 2018 to 2024
Zhihao LIU ; Yali LIU ; Lina GUO ; Yao WANG ; Ying ZHAO ; Xiuli XIE ; Wenjing LIU ; Renyuan ZHU ; Hongli SUN ; Hongtao DOU ; Dingding LI ; Lingli LIU ; Shuying YU ; Menglan ZHOU ; Qiwen YANG ; Yingchun XU ; Li ZHANG
International Journal of Laboratory Medicine 2025;46(21):2588-2594
Objective To analyze the main epidemiological characteristics of fungal infection in this hospital in the past 7 years,and to provide reference for clinical treatment and prevention and control strategies of fun-gal infection.Methods The fungal data and clinical data of related patients isolated from clinical samples in Peking Union Medical College Hospital from early January 2018 to the end of May 2024 were selected,and the main epidemiological characteristics of fungal infection in this hospital were identified and described through multi-angle statistical analysis.Results A total of 4 479 patients with filamentous fungal infection were en-rolled.The proportion of male patients[57.5%(2 576/4 479)]was higher than that of female patients[42.5%(1 903/4 143)],mainly distributed in internal medicine,Intensive Care Unit(ICU)and emergency de-partment,among which internal medicine accounted for the highest proportion[50.0%(2 241/4 479)].About 90.0%of the specimens were from the lower respiratory tract,in addition to specimens from skin and soft tis-sue,tissue,ear and blood culture.In terms of seasonal distribution,there are more patients in winter.The fun-gi were mainly composed of Aspergillus,Mucor,Cerdosporium,Fusarium and Penicillium,among which As-pergillus was the most abundant,accounting for 74.6%of the total.Aspergillus fumigatus was the most a-bundant Aspergillus,accounting for 42.5%of the total Aspergillus(1 418/3 340).Among the related infec-tions caused by mold,Aspergillus was the most common in the lower respiratory tract,accounting for 76.8%.Among them,Aspergillus fumigatus accounted for the highest proportion(33.6%).98.6%of the molds infected the ear were Aspergillus,of which Aspergillus niger and Aspergillus terreus were the most common.Skin infections are mainly caused by Sporothrix schenckii,Trichophyton rubrum,Microsporum ca-nis.The results of in vitro drug sensitivity test showed that the four common Aspergillus isolated in this hos-pital were sensitive to voriconazole,and amphotericin B had better antifungal activity against Mucorales in vitro.Conclusion Based on the main epidemiological characteristics of fungal infections in this hospital,it is recommended that special attention be paid to the admission of patients in the respiratory department during the peak infection period in autumn and winter.In the treatment of fungal infections in different regions and on different body parts,attention should be paid to the differences in the distribution of bacterial species.
8.Treatment of Insomnia Using the Method of Resolving Depression and Regulating the Middle and Tranquillising Mind
Chengyun HU ; Jun ZHANG ; Qian GUO ; Shuting DU ; Zhihao LIN ; Bing GAO ; Hui HUANG
Journal of Traditional Chinese Medicine 2025;66(12):1277-1280
To summarise the clinical experience of treating insomnia with the method of resolving depression, regulating the middle, and tranquilising mind. It is believed that the key to the pathogenesis of insomnia lies in qi depression, disharmony of qi pivot, and disharmony of qi and blood, and the core treatment is to resolve depression, regulating the middle, and tranquilising mind. The self-prescribed Jieyu Anmian Formula (解郁安眠方) could be used as the basic treatment, then modified according to the performance of the patient and syndromes. For syndrome of liver depression restricting spleen, the treatment should soothe liver and invigorate spleen, resolve depression and regulate the middle; for syndrome of liver depression and phlegm coagulation, the treatment should resolve depression and phlegm, support the earth and free the wood; for syndrome of liver depression transforming into fire, the treatment should soothe liver and clear fire, resolve depression and dysphoria; for syndrome of qi stagnation and blood stasis, the treatment should activate blood and regulate the middle, resolve depression and tranquilise mind.
9.Psychological experiences of young end stage renal disease patients awaiting kidney transplantation: A qualitative study.
Dian LIU ; Huilan XU ; Zhihao ZHANG ; Liang WANG ; Jia LIU ; Xiao ZHU
Journal of Central South University(Medical Sciences) 2025;50(5):888-896
OBJECTIVES:
End stage renal disease (ESRD) is a major disease that seriously threatens the health of young people, and kidney transplantation is an effective treatment method to improve its prognosis.Young ESRD patients at a critical stage of life development often face significant physical and psychological challenges while waiting for kidney transplantation. Their psychological state directly affects treatment compliance and transplantation outcomes.This study aims to explore the psychological experiences of young patients with end stage renal disease during the waiting period for kidney transplantation, and provide a reference for formulating relevant psychological intervention measures.
METHODS:
A descriptive qualitative research design was adopted. Using purposive sampling, 20 young ESRD patients awaiting for kidney transplantation at the Transplantation Center of Xiangya Third Hospital, Central South University, from June to August 2024, were recruited. Based on the socio-ecological systems theory, a semi-structured interview outline was developed, and directed content analysis was applied to analyze the interview data.
RESULTS:
According to the results of qualitative interviews, 3 themes and 9 sub-themes were summarized as follows: Microsystem (disease pain experience, anxiety during transplantation waiting period, cognitive differentiation and coping differences), mesosystem (imbalance of family roles and dependent guilt, physician-patient trust dynamics, ambivalence toward peer support), and macrosystem (decision-making powerlessness caused by information asymmetry, sociocultural stigma and public bias, institutional dependence and passive behavior).
CONCLUSIONS
Young ESRD patients experience complex psychological experiences during the waiting period for kidney transplantation. Healthcare providers should explore corresponding intervention measures based on patients' psychological status to improve their waiting period experience and promote both physical and mental health.
Humans
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Kidney Transplantation/psychology*
;
Kidney Failure, Chronic/surgery*
;
Qualitative Research
;
Female
;
Male
;
Adult
;
Adaptation, Psychological
;
Waiting Lists
;
Young Adult
;
Adolescent
;
Anxiety/psychology*
10.Regulation of histidine metabolism by Lactobacillus Reuteri mediates the pathogenesis and treatment of ischemic stroke.
Kangrui HU ; Zhihao ZHOU ; Haofeng LI ; Jijun XIAO ; Yun SHEN ; Ke DING ; Tingting ZHANG ; Guangji WANG ; Haiping HAO ; Yan LIANG
Acta Pharmaceutica Sinica B 2025;15(1):239-255
Increasing evidence has underscored the significance of post-stroke alterations along gut-brain axis, while its role in pathogenesis and treatment of ischemic stroke (IS) remains largely unexplored. This study aimed to elucidate the therapeutic effects and action targets of Panax notoginseng saponins (PNS) on IS and explore a novel pathogenesis and treatment strategy of IS via profiling the microbial community and metabolic characteristics along gut-brain axis. Our findings revealed for the first time that the therapeutic effect of PNS on IS was microbiota-dependent. Ischemia/reperfusion (I/R) modeling significantly down-regulated Lactobacilli in rats, and PNS markedly recovered Lactobacilli, particularly Lactobacillus reuteri (L.Reu). Metabolomics showed a significant reduction in serum histidine (HIS) in clinical obsolete IS patients and rehabilitation period I/R rats. Meanwhile, the L.Reu colonization in I/R rats exhibited significant neuroprotective activity and greatly increased HIS in serum, gut microbiota, and brain. Moreover, exogenous HIS demonstrated indirect neuroprotective effects through metabolizing to histamine. Notably, vagus nerve severance in I/R rats was performed to investigate HIS's neuroprotective mechanism. The results innovatively revealed that PNS could promote HIS synthesis in gut by enhancing L.Reu proportion, thereby increasing intracerebral HIS through peripheral pathway. Consequently, our data provided novel insights into HIS metabolism mediated by L.Reu in the pathogenesis and treatment of IS.

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