1.Two cases of rare K phenotype caused by the KEL c.715G>T mutation
Jing LI ; Jing ZHANG ; Zhixia CHENG ; Jian DU ; Xiaoling ZHANG
Chinese Journal of Blood Transfusion 2026;39(4):526-533
Objective: To investigate the serological identification and blood group gene sequencing analysis of two rare cases of K
phenotype producing high-frequency antigen antibodies (anti-Ku), and to study the serological interrelationship between K
cells and the high-frequency antigen antibody anti-KL. Methods: Serological methods were used to identify the antigen phenotypes of the ABO, Rh, and Kell blood group systems and to screen for and identify unexpected antibodies in the two patients. The characteristics of the unexpected antibodies were verified by the indirect antiglobulin test (IAT) using papain or dithiothreitol (DTT) -treated screening cells. The titer of anti-Ku was determined via the tube method using DTT-treated plasma. The Kell blood group genotype was determined by gene sequencing. The distinctive antigenicity of K
cells was validated through their reactivity with anti-KL in IAT, and absorption-elution techniques were employed to corroborate the type of anti-KL. Results: Serological findings: Case 1 was blood group O, CCDee; Case 2 was blood group A, CCDee. Both cases exhibited the Kell phenotype: K-k-, Kp (a-b-). High-frequency antigen antibodies were detected in the plasma of both patients. The reactivity of these antibodies was slightly enhanced with papain-treated screening cells but became negative with DTT-treated cells. The anti-Ku (IgG) titer for Case 1 was 64. For Case 2, the anti-Ku (IgM) titer was<1, and the anti-Ku (IgG) titer was 32. Gene sequencing revealed that both cases harbored a homozygous c.715G>T mutation in the KEL gene, corresponding to the genotype KEL02N.24, consistent with the rare K
phenotype. The unique high expression of the Kx antigen on K
cells was confirmed through the antibody characteristics of anti-KL. Absorption-elution techniques demonstrated that K
cells could separate anti-Km and anti-Kx, thereby supporting the classification of anti-KL. Conclusion: Serological and molecular biological assays identified both patients as having the rare Kell-null (K
) phenotype. If such rare blood types go undetected in transfusion medicine, the administration of standard blood products can readily induce the production of high-frequency antigen antibodies such as anti-Ku, potentially leading to a transfusion crisis due to the subsequent difficulty in finding compatible blood. The serological relationship between K
cells and anti-KL clarified the characteristic high expression of the Kx antigen on K
phenotype erythrocytes and concurrently supported the typological features of the rare high-frequency antibody anti-KL. This represents the first such verified report in China.
2.Mechanism of Shenqi Dihuangtang in Blocking Renal Fibrosis Injury in Diabetic Kidney Disease Mediated by Epithelial-mesenchymal Transition Through Inhibiting TGF-β1/Smad Signaling Axis
Liangjing LIU ; Haolan LIU ; Xiaoling MAO ; Min YU ; Weitong YAN ; Chao LI
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(7):32-45
ObjectiveThis paper aims to study the potential active compound components and action mechanism of Shenqi Dihuangtang in the treatment of diabetic kidney disease (DKD) through network pharmacology and in vivo experimental verification. MethodsUltra-high-performance liquid chromatography-Q-exactive orbitrap mass spectrometry (UPLC-Q-Exactive Orbitrap MS) technology was used to clarify the main active chemical components of Shenqi Dihuangtang, and it was combined with network pharmacology methods such as gene ontology (GO) functional annotations and Kyoto encyclopedia of genes and genome (KEGG) to predict the potential action mechanism of Shenqi Dihuangtang in treating DKD. Subsequently, the DKD model of db/db male mice was established, and the mice were randomly divided into model group, low-dose Shenqi Dihuangtang group (6.10 g·kg-1), medium-dose Shenqi Dihuangtang group (12.19 g·kg-1), high-dose Shenqi Dihuangtang group (24.38 g·kg-1), and daplizin group (1.25 mg·kg-1). During the same period, C57BL/6J male mice were selected into normal group and received drug intervention for 8 weeks, respectively. During this period, the body weight and fasting blood glucose (FBG) of the mice were dynamically monitored, and oral glucose tolerance test (OGTT) and insulin tolerance test (ITT) were performed at the end of dosing. The levels of serum creatinine (SCr), blood urea nitrogen (BUN), uric acid (UA), albumin (ALB), and total protein (TP) were measured by an automatic biochemical analyzer, and 24-hour urine protein was measured by a urine protein quantitative kit. Hematoxylin-eosin (HE), periodic-acid Schiff (PAS), and Masson staining were employed to observe the renal histopathology. The expression of nephrotic protein Nephrin was observed by immunohistochemistry. Western blot was used to detect the expression of epithelial-mesenchymal transition (EMT)-related proteins such as TGF-β1, Smad2/3, α-smooth muscle actin (α-SMA), neural-cadherin (N-Cadherin), and snail protein. ResultsUPLC-Q-Exactive Orbitrap MS identified 384 active compounds in the aqueous extract of Shenqi Dihuangtang. According to oral bioavailability≥30% and the five drug-like principles, 44 key active ingredients were screened out, and 169 intersection targets highly correlated with DKD were matched. Among them, there was a significant interaction relationship between tumor necrosis factor(TNF), interleukin(IL)-6, protein kinase B(Akt)1, Caspase-3, Jun proto-oncogene (JUN), hypoxia inducible factor-1α(HIF-1α), B cell lymphoma-2(Bcl-2), matrix metallopeptidase-9(MMP-9), IL-1β, and TGF-β1. GO functional annotations were significantly enriched in cellular components such as membrane rafts, membrane microdomains, and collagen-containing extracellular matrix, molecular functions such as DNA-binding transcription factor binding, R-Smad binding, and Smad protein binding, as well as biological processes such as reactions to lipopolysaccharides(LPS), reactions to bacteria-derived molecules, and wound healing. The KEGG pathway was significantly enriched in lipids and atherosclerosis, TGF-β signaling pathway, phosphatidylinositol 3 kinase (PI3K)/Akt signaling pathway, etc. In vivo experimental results showed that the high-dose Shenqi Dihuangtang group could significantly reduce FBG levels in db/db mice (P<0.01), improve OGTT (P<0.01) and ITT (P<0.01) levels, reduce SCr (P<0.01), BUN (P<0.01), UA (P<0.01) and 24-hour BUN (P<0.01), and increase ALB (P<0.01) and TP (P<0.01) levels. Pathological staining confirmed that the high-dose Shenqi Dihuangtang group could significantly reduce the glomerular mesangial matrix area and collagen deposition (P<0.01) and upregulate the positive expression rate of Nephrin (P<0.01). Western blot results showed that the high-dose Shenqi Dihuangtang group significantly downregulated the expression of TGF-β1 (P<0.01) and Smad2/3 (P<0.01) signal molecules and inhibited the protein levels of α-SMA (P<0.01), N-Cadherin (P<0.01), and Snail (P<0.01). ConclusionShenqi Dihuangtang can inhibit the TGF-β1/Smad signaling axis and block the renal EMT process, thereby improving DKD renal fibrosis damage. Further analysis of its key active components and clinical transformation pathways is needed in the future.
3.Association of outdoor activity time and sleep duration with screening myopia in primary school students
LIU Xiaoling, LI Tingting, CAO Caiyun, YANG Feng, TAO Shuman, WU Xiaoyan, XU Shaojun, TAO Fangbiao
Chinese Journal of School Health 2026;47(2):279-282
Objective:
To explore the association of outdoor activity time and sleep duration with screening myopia in primary school students, so as to provide strategies for myopia prevention.
Methods:
Through a convenience sampling method, a survey was conducted among 4 248 primary school students aged 7-13 years from three primary schools in Xihu District, Nanchang City, Jiangxi Province from May to July, 2023. The average daily outdoor activity time and sleep duration on both weekdays and weekends were investigated in primary school students by using a self designed questionnaire. Uncorrected visual acuity tests and non cycloplegic autorefraction were measured by professional optometrists. Inter group comparisons were conducted using the Chi square test. Logistic regression model was used to analyze the association of outdoor activity time and sleep duration with screening myopia.
Results:
The detection rate of screening myopia in primary school students was 33.6%, with the rate in boys (32.0%) lower than that in girls (35.3%), and the difference was statistically significant ( χ 2=5.11, P =0.02). The analysis results of Logistic regression showed that after adjusting for factors such as gender, grade and parental education level, both average daily outdoor activity time <2 h on both weekdays and weekends ( OR =1.27, 95% CI =1.11-1.46) and sleep duration <10 h ( OR =1.17, 95% CI =1.01- 1.35 ), as well as their combined effect ( OR =1.57, 95% CI =1.25-1.98), were associated with an increased risk of screening myopia in primary school students(all P <0.05). Subgroup analysis results indicated that compared to boys ( OR =1.46, 95% CI = 1.07 -1.99), girls( OR =1.73, 95% CI =1.22-2.44) with insufficient outdoor activity time and sleep duration had a higher risk of screening myopia(both P <0.05).
Conclusions
There is a negative correlation of outdoor activity time and sleep duration with screening myopia in primary school students. Outdoor activity time and extending sleep duration should be increased to reduce the risk of myopia in primary school students.
4.Correlation between fundus blood flow parameters and carotid artery ultrasound blood flow parameters in patients with hypertensive retinopathy
Fang YUAN ; Wenxiu XIA ; Peiqiu XU ; Yawei LI ; Junchen CHEN ; Xiaoling ZHANG
International Eye Science 2025;25(2):306-310
AIM: To investigate the correlation between fundus blood flow parameters and carotid artery ultrasound blood flow parameters in patients with hypertensive retinopathy(HRP).METHODS: A total of 50 patients(22 left eyes and 28 right eyes)with HRP admitted to our hospital from June 2021 to June 2023 were retrospectively included as the experimental group, and 50 healthy physical examination subjects(22 left eyes and 28 right eyes)during the same period were included as the healthy group. Pearson correlation was used to analyze the correlation between fundus blood flow parameters and carotid artery ultrasound blood flow parameters.RESULTS: The AUC values of fundus blood flow parameters and carotid artery ultrasound blood flow parameters and their combined diagnosis of HRP were 0.853, 0.844 and 0.935, respectively. Pearson correlation analysis showed that carotid systolic peak blood flow velocity was negatively correlated with foveal avascular zone(FAZ)area, FAZ circumference and non-circularity index, and positively correlated with macular vascular density(all P<0.05). The end-diastolic blood flow velocity was positively correlated with FAZ area and macular vascular density(all P<0.05). The internal carotid artery resistance index was positively correlated with FAZ area(P<0.05).CONCLUSION: The combination of fundus blood flow parameters and carotid artery ultrasound blood flow parameters in the diagnosis of HRP has good application value in the diagnosis of HRP.
5.Analysis of the current situation of self-paid medical examination projects for patients in a public medi-cal examination institution in Xinjiang
Xiaoling XI ; Lei HAN ; Linnang QU ; Mengyu LI
Modern Hospital 2025;25(6):960-964
Objective By conducting a statistical analysis of self-paid health examination items among individuals at a public medical institution in Xinjiang in 2023,this study aims to understand the preferences of different demographic groups re-garding health examination items.Methods Data from self-paid health examinations in 2023 were collected and analyzed using statistical methods such as chi-square tests and binary logistic regression to examine the frequency of selection,differences,and influencing factors of health examination items among different demographic groups.Results ① The total number of research subjects was 11,228,including 5,205 males and 6,023 females,with ages ranging from 18 to 94 years old.② The frequency of choosing examination items for males ranked from highest to lowest in the top 5 were thyroid B-ultrasound,prostate and bladder B-ultrasound,color Doppler echocardiography,spiral CT of the lungs,and glycosylated hemoglobin determination.For females,the frequency of choosing examination items ranked from highest to lowest in the top 5 were thyroid B-ultrasound,breast B-ultra-sound,vaginal B-ultrasound,vaginal discharge routine test combination,and spiral CT of the lungs.③ Older individuals were more likely to choose color Doppler echocardiography,spiral CT of the lungs,and glycosylated hemoglobin determination.Youn-ger individuals were more likely to choose thyroid B-ultrasound,13-carbon urea breath test;those with lower educational attain-ment were more likely to choose thyroid B-ultrasound,color Doppler echocardiography,spiral CT of the lungs,glycosylated hemo-globin,and 13-carbon urea breath test;those with fewer physical examinations were more likely to choose thyroid B-ultrasound,color Doppler echocardiography,spiral CT of the lungs,and 13-carbon urea breath test.Conclusion By analyzing the prefer-ences and influencing factors of health examination items among different demographic groups,targeted plans can be proposed to assist medical institutions in designing more appropriate health examination packages tailored to diverse populations.
6.A family study of cataplexy and epilepsy due to mutations in the KCNA1 gene and literature review
Li LIN ; Xiaoling ZHAO ; Danqun JIN ; Nannan LI ; Bin YANG
Chinese Pediatric Emergency Medicine 2025;32(7):524-529
Objective:To investigate the clinical and genetic characteristics of a family with cataplexy and epilepsy caused by KCNA1 gene mutations. Methods:The clinical data of a family with KCNA1 gene mutations leading to cataplexy and epilepsy who hospitalized in the Department of Pediatric Neurology at Anhui Children's Hospital in August 2022 were collected,and their clinical manifestations,imaging,electroencephalogram,gene testing results and treatment were analyzed. A total of 68 pathogenic or potentially pathogenic variants of the KCNA1 gene were identified by searching the database of CNKI,Wanfang Data Knowledge Service Platform, ClinVar, dbSNP and PubMed using the keyword‘KCNA1’between the establishment and August 2023. Results:The proband was a 9 years and 8 months old boy who initially presented with cataplexy induced by strenuous exercise or fatigue,followed by focal epilepsy. The whole exome sequencing detected heterozygous variation of exon 2 c.1006G>A(p.Gly336Arg)of KCNA1 gene,which was a missense mutation and was not reported in the country or abroad. Both the mother and brother of the proband detected heterozygous mutations at the same locus,and both had cataplexy induced by strenuous exercise or fatigue,but the type of seizure was generalized tonic-clonic seizure. The proband's grandmother,aunt,and brother all had seizures or cataplexy. Affected patients receiving different or the same anti-seizure drugs(sodium valproate,lamotrigine,phenytion sodium and carbamazepine)had varying degrees of relief,and those treated with sodium channel blockers had varying degrees of relief. A total of 68 mutation sites of KCNA1 gene were retrieved from domestic and foreign literature,mainly missense mutations,and most patients showed episodic ataxia type 1(EA1),and there was genetic heterogeneity between the genotype and phenotype of the variable patients. Conclusion:We have reported a heterozygous mutation in the KCNA1 gene c.1006G>A(p.Gly336Arg),which is a missense mutation and is easy to misdiagnose in patients with cataplexy and epilepsy as the main phenotypes. Patients with the KCNA1 mutation have different degrees of efficacy on sodium channel blockers.
7.Current research status of sleep disorders in patients with tinnitus
Xiaoling HUANG ; Dongmei TANG ; Shan SUN ; Huawei LI
Journal of Audiology and Speech Pathology 2025;33(5):485-490
Sleep disorders is one of the most frequent and severe complications in patients with tinnitus and is highly correlated with the severity of tinnitus.Sleep disorders and tinnitus influence each other,forming a vicious circle.While in-terventions have been developed to alleviate tinnitus distress,these interventions are usually not effective in improving sleep in patients with tinnitus and sleep disorders.Helping tinnitus patients to resolve sleep disorders is the key to breaking the cycle and improving their quality of life.In this narrative review,we studyed the current state of research on sleep disorders in patients with tinnitus through three aspects:epidemiology,physiological and psychological mechanisms,and existing psychological,physical,and pharmacological interventions,and to provide a basis for further research on the relationship between tinnitus and sleep disorders and the precise treatment of tinnitus.
8.Functional Connectivity of Lower Limb Sensorimotor Cortex in Type 2 Diabetic Peripheral Neuropathy via Resting-State fMRI
Yitong GUAN ; Wanting LIU ; Peichun PAN ; Jing LI ; Chenyu ZHANG ; Yang HUANG ; Dongsheng ZHANG ; Xiaoling ZHANG
Chinese Journal of Medical Imaging 2025;33(8):805-810
Purpose To investigate the functional connectivity(FC)pattern between the bilateral lower limb sensorimotor cortex(LSM)and the whole brain in type 2 diabetic peripheral neuropathy(DPN).Materials and Methods A total of 44 DPN patients and 43 healthy controls admitted to Shaanxi Provincial People's Hospital from February 2021 to December 2022 were enrolled prospectively and underwent neuropsychological assessment and resting-state fMRI scans.Using bilateral LSM as the regions of interest,the differences of bilateral LSM and whole brain FC between DPN patients and healthy controls were compared.FC in different brain areas were extracted and correlated with clinical/neuropsychological scores.Results Compared with healthy controls,DPN patients had reduced FC of the LSM with the right cerebellar lobule Ⅵ,the right lateral occipitotemporal cortex,the bilateral rostral prefrontal cortex and the bilateral anterior cingulate gyrus.The FC between LSM and right cerebellar Ⅵ in DPN patients were significantly negatively correlated with fasting blood glucose(r=-0.490,P=0.001).The FC between LSM and bilateral anterior cingulate gyrus in DPN patients were significantly positively correlated with Montreal cognitive assessment scores(r=0.479,P=0.001).Conclusion Abnormal FC between LSM and multiple brain regions,suggesting that DPN may have extensive effects on brain regions that maintain motion and motor control function in type 2 diabetes mellitus patients.
9.A multicenter evaluation study of the use of large language models in neuro-ophthalmology
Zixun WANG ; Xiaoling ZHANG ; Hongqiang JIA ; Ruihua WEI ; Yuhang WANG ; Ke FAN ; Yanhua QI ; Xueshuo XIE ; Shihui WEI ; Zhiqing LI
Recent Advances in Ophthalmology 2025;45(10):810-815
Objective To evaluate answers to typical clinical questions related to neuro-ophthalmology generated by Artificial Intelligence(AI)Large Language Models(LLM)and to explore the performance of neuro-ophthalmology-related questions on LLM in a multidimensional manner using objective and expert assessment.Methods Multicenter,random-ized,cross-sectional pilot study.Thirty typical questions related to neuro-ophthalmology were selected based on four per-spectives:definition,etiology,clinical manifestations and signs,and treatment and prognosis,and were analyzed quantita-tively using Deepseek,Wenxin Yiyin 4.0,Doubao,and Kimi 1.5,which are four open-source LLMs in China,and quantita-tively analyzed with objective assessment;and quantitatively rated by three ophthalmologists using expert assessment for 120 answer texts.Three ophthalmology experts quantitatively scored the 120 answer texts.Three ophthalmologists quantita-tively scored the 120 answer texts.Level 3,5,and 4 Likert scales were developed according to the completeness,accura-cy,professionalism,relevance,and criticality of the question texts,respectively.The best-performing LLM was selected,and its performance was observed across the four types of questions.Additionally,three other experts assessed whether the best-performing one could be evaluated as a substitute for real-world doctor-patient communication.Results In the objective Chinese text reading difficulty analysis,the differences in total word count among the four LLMs were statistically significant(all P<0.001).Of the four LLMs,Kimi 1.5 performed the best,with frequencies of 61%,29%,and 41%for the highest scores in completeness(3),accuracy and professionalism(5),and relevance and usefulness(4),respective-ly.Kimi 1.5 performed more consistently on the questions on the four areas of neuro-ophthalmologic disorders:definition,etiology,clinical manifestations and signs,treatment,and prognosis,with no between-group differences(P>0.05).Con-clusion Chinese language LLMs have great potential in the clinical application of neuro-ophthalmology.Kimi 1.5 outper-forms other LLMs in terms of completeness,accuracy,professionalism,relevance,and usefulness,but it still cannot re-place real-world doctor-patient communication.There is a need to explore new diagnostic and therapeutic model of AI+physician in the future.
10.Real-time functional MRI neurofeedback for modulating brain activity changes in obese adults
Qi QIAO ; Jing ZHOU ; Junya HE ; Xin LI ; Yang ZHOU ; Zhonglin LI ; Zhi ZOU ; Xiaoling WU ; Hao LI ; Yongli LI
Chinese Journal of Medical Imaging Technology 2025;41(1):45-49
Objective To observe value of real-time functional MRI neurofeedback(rtfMRI-NF)for modulating brain activity changes in obese adults.Methods Twenty-two obese adults were prospectively recruited,3-week rtfMRI-NF training intervention was conducted.Barratt impulsivityness scale version 11(BIS-11),three-factor eating questionnaire(TFEQ)and food rating scales were scored before and after intervention,and whole-brain resting state fMRI(rs-fMRI)data were obtained.Clinical scale scores,rs-fMRI regional homogeneity(ReHo)values and amplitude of low frequency fluctuation(ALFF)values were compared before and after intervention.Then brain regions with differences of ReHo and ALFF values before and after intervention were explored,and correlations of values of rs-fMRI data differences and clinical scale score differences were analyzed.Results BIS-11 score,TFEQ emotional eating(TFEQ-EE)score and food rating scales scores decreased,while TFEQ cognitive restraint(TFEQ-CR)scores increased in obese adults after intervention(all P<0.05).ReHo values in right inferior frontal gyrus,right anterior cingulate and left precuneus increased,while of left middle temporal gyrus decreased(all corrected P<0.05).ALFF values of left precuneus increased,whereas of left middle occipital gyrus,right superior occipital gyrus,left calcarine fissure and surrounding cortex and left supramarginal and angular gyrus decreased(all corrected P<0.05).ReHo difference in right anterior cingulate was negatively correlated with BIS-11 scores difference(r=-0.601,P<0.05),and ALFF difference in left precuneus was negatively correlated with TFEQ-EE difference(r=-0.478,P<0.05).Conclusion rtfMRI-NF intervention could correct disorder of cerebral functional areas in obese adults and change high-calorie food preference and poor dietary habits.


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