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Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with severeβ-ketothiolase deficiency:A case report 被引量:1
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作者 Jun Guo Dan Ren +4 位作者 Zhong-Jie Guo Jing Yu Fu Liu Rong-Xiang Zhao Yu Wang 《World Journal of Clinical Cases》 SCIE 2021年第30期9276-9284,共9页
BACKGROUNDβ-ketothiolase deficiency(β-KTD)is an inherited disease,and insufficient attention has been paid to imageology due to its lower morbidity.Therefore,few lesions outside the basal ganglia have been found bef... BACKGROUNDβ-ketothiolase deficiency(β-KTD)is an inherited disease,and insufficient attention has been paid to imageology due to its lower morbidity.Therefore,few lesions outside the basal ganglia have been found before,and the persistent pathological changes have rarely been reported.CASE SUMMARY A 10-mo-old Chinese female patient with a free previous medical history but with poor physical and athletic development had received the haemophilus influenzae vaccine and then developed a low fever 2 d prior.She was initially diagnosed with severe brain injury,central respiratory failure,metabolic acidosis complicated with respiratory alkalosis,hyper-IgE,etc.With further examination,a definite diagnosis ofβ-KTD was made.Symptomatic treatment was adopted.Ten days later,the dyspnea was improved evidently and the ventilator was removed,but there were still obvious abnormalities on magnetic resonance imaging(MRI).The lesions mainly invaded the corpus striatum but were not limited to the basal ganglia.Then,the patient’s disease improved and discharged approximately 1 mo later,and the abnormal lesions on MRI had partially improved.However,for about 1 year,the residual irreversible lesions were observed on MRI,the mental and physical development of the patient was obviously regressive,and extra rehabilitation training was needed.CONCLUSION The case highlights the critical importance of one view that the range of lesions in some patients may be more extensive than previously thought in someβ-KTD patients.In addition to biochemical tests,genetic tests and magnetic resonance imaging are not only conducive to quickly diagnosingβ-KTD but also to partially evaluating the short-and long-term outcomes.Moreover,more attention should be paid to the two mutations(c.478 C>G;c.951 C>T)that may be associated with severeβ-KTD. 展开更多
关键词 Life-threatening symptoms Severeβ-ketothiolase deficiency Lesions outside of the basal ganglia Irreversible damage to the basal ganglia Magnetic resonance imaging New mutation Case report
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Interactions between Zn, Fe, Cu and Mn in Various Organs of Bread Wheat at Deficiency and Adequate of Absorbable Zinc 被引量:1
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作者 Mohsen Niazkhani Azita Navvabi 《American Journal of Plant Sciences》 2025年第2期232-244,共13页
Deficiency or restriction of Zn absorption in soils is one of the most common micronutrients deficient in cereal plants. To investigate critical micronutrient interaction in zinc deficiency and zinc sufficient in soil... Deficiency or restriction of Zn absorption in soils is one of the most common micronutrients deficient in cereal plants. To investigate critical micronutrient interaction in zinc deficiency and zinc sufficient in soil, a factorial experiment based on completely randomized design (CRD) with three replications was conducted in 2023. Six wheat cultivars with different Zn efficiency were used. The cultivars were grown under Zn deficiency and adequate conditions. Results showed that in Zn deficiency conditions, with increasing Zn concentration in the roots, Fe concentrations were increased too, while the Cu and Mn concentrations decreased. In the same condition and with increasing Zn concentration in shoots, the concentrations of Fe and Mn decreased, while Cu were increased. However, by increasing Zn concentration, Fe, Cu, and Mn concentrations were increased in Zn deficiency condition in grains, as well as Zn sufficient conditions. RST (root to shoot micronutrient translocation) comparison of cultivars showed that in lack of Zn, the ability of translocation of Zn, Fe, and Mn in Zn-inefficient cultivar from root to shoot was higher than inefficient cultivar. In the same conditions, the capability of Zn-inefficient cultivar in Cu translocation from root to shoot was lower than other cultivars. In general, it seems that in Zn deficiency conditions, there are antagonistic effects among Zn, Cu and Mn and synergistic effects between Zn and Fe in the root. Also, in Zn sufficient conditions, there were synergistic effects among all studies micronutrients which include Zn, Fe, Cu, and Mn. 展开更多
关键词 Interaction MICRONUTRIENT Translocation Ratio Zn deficiency Zn-Efficient
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Selenium deficiency exacerbates ROS/ER stress mediated pyroptosis and ferroptosis induced by bisphenol A in chickens thymus 被引量:2
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作者 Kun Wang Xu Shi +2 位作者 Hongjin Lin Tong Xu Shiwen Xu 《Journal of Environmental Sciences》 2025年第2期13-26,共14页
Bisphenol A(BPA)is an industrial pollutant that can cause immune impairment.Selenium acts as an antioxidant,as selenium deficiency often accompanies oxidative stress,resulting in organ damage.This study is the first t... Bisphenol A(BPA)is an industrial pollutant that can cause immune impairment.Selenium acts as an antioxidant,as selenium deficiency often accompanies oxidative stress,resulting in organ damage.This study is the first to demonstrate that BPA and/or selenium deficiency induce pyroptosis and ferroptosis-mediated thymic injury in chicken and chicken lymphoma cell(MDCC-MSB-1)via oxidative stress-induced endoplasmic reticulum(ER)stress.We established a broiler chicken model of BPA and/or selenium deficiency exposure and collected thymus samples as research subjects after 42 days.The results demonstrated that BPA or selenium deficiency led to a decrease in antioxidant enzyme activities(T-AOC,CAT,and GSH-Px),accumulation of peroxides(H2O2 and MDA),significant upregulation of ER stress-relatedmarkers(GRP78,IER 1,PERK,EIF-2α,ATF4,and CHOP),a significant increase in iron ion levels,significant upregulation of pyroptosis-related gene(NLRP3,ASC,Caspase1,GSDMD,IL-18 and IL-1β),significantly increase ferroptosis-related genes(TFRC,COX2)and downregulate GPX4,HO-1,FTH,NADPH.In vitro experiments conducted in MDCC-MSB-1 cells confirmed the results,demonstrating that the addition of antioxidant(NAC),ER stress inhibitor(TUDCA)and pyroptosis inhibitor(Vx765)alleviated oxidative stress,endoplasmic reticulum stress,pyroptosis,and ferroptosis.Overall,this study concludes that the combined effects of oxidative stress and ER stress mediate pyroptosis and ferroptosis in chicken thymus induced by BPA exposure and selenium deficiency. 展开更多
关键词 Bisphenol A Selenium deficiency ROS/ER stress PYROPTOSIS Ferroptosis Thymic injury
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Analysis of clinical characteristics and diagnostic prediction of Qi deficiency and blood stasis syndrome in acute ischemic stroke 被引量:1
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作者 Hao XU Xu ZHU +3 位作者 Bo LI Xiaodan LIU Xihui PAN Changqing DENG 《Digital Chinese Medicine》 2025年第1期111-122,共12页
Objective To explore the clinical characteristics and methods for syndrome differentiation prediction,as well as to construct a predictive model for Qi deficiency and blood stasis syndrome in patients with acute ische... Objective To explore the clinical characteristics and methods for syndrome differentiation prediction,as well as to construct a predictive model for Qi deficiency and blood stasis syndrome in patients with acute ischemic stroke(AIS).Methods This study employed a retrospective case-control design to analyze patients with AIS who received inpatient treatment at the Neurology Department of The First Hospital of Hunan University of Chinese Medicine from January 1,2013 to December 31,2022.AIS patients meeting the diagnostic criteria for Qi deficiency and blood stasis syndrome were stratified into case group,while those without Qi deficiency and blood stasis syndrome were stratified into control group.The demographic characteristics(age and gender),clinical parameters[time from onset to admission,National Institutes of Health Stroke Scale(NIHSS)score,and blood pressure],past medical history,traditional Chinese medicine(TCM)diagnostic characteristics(tongue and pulse),neurological symptoms and signs,imaging findings[magnetic resonance imaging-diffusion weighted imaging(MRI-DWI)],and biochemical indicators of the two groups were collected and compared.The indicators with statistical difference(P<0.05)in univariate analysis were included in multivariate logistic regression analysis to evaluate their predictive value for the diagnosis of Qi deficiency and blood stasis syndrome,and the predictive model was constructed by receiver operating characteristic(ROC)curve analysis.Results The study included 1035 AIS patients,with 404 cases in case group and 631 cases in control group.Compared with control group,patients in case group were significantly older,had extended onset-to-admission time,lower diastolic blood pressure,and lower NIHSS scores(P<0.05).Case group showed lower incidence of hypertension history(P<0.05).Regarding tongue and pulse characteristics,pale and dark tongue colors,white tongue coating,fine pulse,astringent pulse,and sinking pulse were more common in case group.Imaging examinations demonstrated higher proportions of centrum semiovale infarction,cerebral atrophy,and vertebral artery stenosis in case group(P<0.05).Among biochemical indicators,case group showed higher proportions of elevated fasting blood glucose and glycated hemoglobin(HbA1c),while lower proportions of elevated white blood cell count,reduced hemoglobin,and reduced high-density lipoprotein cholesterol(HDL-C)(P<0.05).Multivariate logistic regression analysis identified significant predictors for Qi deficiency and blood stasis syndrome including:fine pulse[odds ratio(OR)=4.38],astringent pulse(OR=3.67),superficial sensory abnormalities(OR=1.86),centrum semiovale infarction(OR=1.57),cerebral atrophy(OR=1.55),vertebral artery stenosis(OR=1.62),and elevated HbA1c(OR=3.52).The ROC curve analysis of the comprehensive prediction model yielded an area under the curve(AUC)of 0.878[95%confidence interval(CI)=0.855-0.900].Conclusion This study finds out that Qi deficiency and blood stasis syndrome represents one of the primary types of AIS.Fine pulse,astringent pulse,superficial sensory abnormalities,centrum semiovale infarction,cerebral atrophy,vertebral artery stenosis,elevated blood glucose,elevated HbA1c,pale and dark tongue colors,and white tongue coating are key objective diagnostic indicators for the syndrome differentiation of AIS with Qi deficiency and blood stasis syndrome.Based on these indicators,a syndrome differentiation prediction model has been developed,offering a more objective basis for clinical diagnosis,and help to rapidly identify this syndrome in clinical practice and reduce misdiagnosis and missed diagnosis. 展开更多
关键词 Acute ischemic stroke(AIS) Case-control study Qi deficiency and blood stasis syndrome Prediction model of syndrome differentiation Logistic regression analysis
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Identification of characteristic genes of Yin and Yang deficiency constitutions:an integrated analysis based on bioinformatics and machine learning
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作者 LONG Xi WU Zixuan +2 位作者 YU Yunfeng LIN Jie PENG Qinghua 《Journal of Traditional Chinese Medicine》 2025年第4期909-921,共13页
OBJECTIVE:To utilize the Traditional Chinese Medicine constitution(TCMC)as a complementary and alternative approach for early disease detection and treatment,with a focus on Yin and Yang deficiency constitutions,which... OBJECTIVE:To utilize the Traditional Chinese Medicine constitution(TCMC)as a complementary and alternative approach for early disease detection and treatment,with a focus on Yin and Yang deficiency constitutions,which serve as key references for disease prevention and management.METHODS:The dataset containing the data of Yin and Yang deficiency constitution was identified through the Gene Expression Omnibus database.This database was used for differential expression genes(DEGs)analysis and weighted gene co-expression network analysis(WGCNA),and the characteristic genes were then obtained in the dataset using a machine learning method.The hub genes of Yin and Yang deficiency constitution were obtained after analysis using the above three methods,and the hub genes were enriched and analyzed.Subsequently,the hub genes of Yin and Yang deficiency constitution were validated using external datasets.Receiver operating characteristic(ROC)analysis was used on each hub genes of the two groups to further understand their diagnostic performance.The mi RNA–lnc RNA-gene network was used to further analyze the hub genes.Immunoinfiltration and gene set enrichment analysis were performed on the shared hub genes.RESULTS:The GSE87474 dataset was used for DEGs analysis and WGCNA.Using machine learning analyses,we identified 15 and 14 hub genes for Yin and Yang deficiency constitutions,respectively.The results of enrichment analyses showed that Yin deficiency constitution was associated with interleukin-17 signaling pathway,whereas Yang deficiency constitution was associated with glycosaminoglycan biosynthesis–keratan sulfate.The validation dataset GSE56116 showed statistically significant data for s-adenosylmethionine sensor upstream of MTORC1(SAMTOR,also named C7orf60),cofilin 2(CFL2),cytohesin 1 interacting protein(CYTIP),G protein-coupled receptor 183(GPR183),hippocampus abundant transcript 1(HIAT1),kelch like family member 15(KLHL15),mitogen-activated protein kinase 6(MAPK6),and prostaglandin-endoperoxide synthase 2(PTGS2)in Yin deficiency and fucosyltransferase 8(FUT8),TATA-box binding protein associated factor,RNA polymerase I subunit D(TAF1D),zinc finger protein 24(ZNF24),MAPK6,and leptin receptor overlapping transcript like 1(LEPROTL1)in Yang deficiency.The ROC results indicated that these genes have diagnostic value.MAPK6 is a shared hub gene for Yin and Yang deficiencies.CONCLUSIONS:This study identified C7orf60,CFL2,CYTIP,GPR183,HIAT1,KLHL15,MAPK6,and PTGS2 in Yin deficiency and FUT8,TAF1D,ZNF24,MAPK6,and LEPROTL1 in Yang deficiency as potential biomarkers,providing insights into their pathogenesis.This theory not only guides the diagnostic approach in TCM but also extends its influence to various scientific research fields. 展开更多
关键词 Traditional Chinese Medicine constitution Yin deficiency Yang deficiency mitogen-activated protein kinase 6 characteristic genes
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Grain Zinc 7 Contributes to Zinc Deficiency Tolerance and Accumulation in Rice
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作者 TANG Jichun ZHAN Junhui +4 位作者 LIU Yuxi LI Shuangyuyan LU Xiang MENG Lijun YE Guoyou 《Rice science》 2025年第5期594-598,I0009-I0021,共18页
Zinc(Zn)is an essential micronutrient for both plants and humans.Zn deficiency is common in many paddy fields and reduces yield and grain Zn content(GZC).To accelerate breeding for improved GZC and Zn deficiency toler... Zinc(Zn)is an essential micronutrient for both plants and humans.Zn deficiency is common in many paddy fields and reduces yield and grain Zn content(GZC).To accelerate breeding for improved GZC and Zn deficiency tolerance(ZDT)rice varieties,it is important to identify genes regulating Zn homeostasis.In this study,a member of the Ser/Thr protein phosphatase family,LOC_Os07g48840(named as OsGZ7),was found to contributed to ZDT and GZC in rice.The expression of OsGZ7 in roots and shoots was inhibited by Zn deficiency and toxicity,but induced by iron(Fe),manganese(Mn),and copper(Cu)deficiency,as well as chromium toxicity.OsGZ7 localized to the cytoplasm and was expressed in all tissues during the tillering,flowering,and grain-filling stages,particularly in the leaf blade and leaf sheath.At the seedling stage,knockout of OsGZ7 enhanced ZDT and increased Zn accumulation in both roots and shoots.At the maturity stage,knockout of OsGZ7 enhanced GZC,while overexpression of OsGZ7 reduced GZC.RNA-seq analysis suggested that OsGZ7 might regulate Zn homeostasis by affecting metal binding,hormone signal transduction,and oxidoreductase activity.Taken together,our findings indicate that OsGZ7 contributes to ZDT and Zn accumulation in rice. 展开更多
关键词 metal binding ser thr protein phosphatase rice zinc homeostasis paddy fields gene regulation zn deficiency zinc deficiency tolerance grain zinc content
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Iron deficiency, supplementation, and sports performance in female athletes: A systematic review
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作者 Michael Pengelly Kate Pumpa +1 位作者 David Bruce Pyne Naroa Etxebarria 《Journal of Sport and Health Science》 2025年第3期83-95,共13页
Background:Iron facilitates key biological functions underpinning sports performance,and up to 60%of female athletes experience iron deficiency.However,the effects of iron deficiency on sports performance in female at... Background:Iron facilitates key biological functions underpinning sports performance,and up to 60%of female athletes experience iron deficiency.However,the effects of iron deficiency on sports performance in female athletes is unclear,as are the degree of benefits of iron supplementation(FeSup).This study characterizes the effects of iron deficiency and FeSup on sports performance in high-level female athletes.Methods:Searches of the electronic databases MEDLINE,SPORTDiscus,Web of Science,Scopus,and CINAHL were performed in July 2023.Studies were included that evaluated the effects of iron deficiency or FeSup on sports performance in high-level(maximal oxygen uptake(VO2max)>45 mL/kg/min,or trained>5 h/week)iron deficient(ID)(serum ferritin(sFer)<40 mg/L)female athletes.Studies were assessed using a modified Downs and Black Quality Assessment Checklist.Results:A total of 23 studies comprising 669 athletes(age range:13-47 years)across 16 sports were included in the review.Iron deficiency negatively affects endurance performance by 3%-4%.However,endurance performance improved by 2%-20%when ID athletes were treated with 100 mg/day of elemental iron for up to 56 days via oral supplementation,or bi-daily via parenteral administration over 8-10 days.ID nonanemic athletes with low sFer stores may be predisposed to reduced maximal aerobic capacity.However,maximal aerobic capacity improved by 6%-15%following 16 mg/day-100 mg/day of elemental iron for 36-126 days.Isokinetic strength and anaerobic power performance may be impeded(-23%to+4%)among ID athletes,but the effect of FeSup on anaerobic power varied markedly(-5%to+9%)following 100 mg/day of elemental iron over 42-56 days,or 100 mg of elemental iron bi-daily over 8-10 days.The quality of studies was moderate(77%),ranging from low(57%)to high(100%).Moststudies(n=18)contained group sizes-20 athletes,thus limiting the likelihood of detecting significant effects(statistical power>0.80).Conclusion:High-level ID female athletes experience a negative impact on endurance performance,which can be improved by supplementing with»100 mg of elemental iron per day or bi-daily.The decrements in other performance parameters characterizing a range of sports coincide with the severity of iron deficiency. 展开更多
关键词 ANEMIA Non-anemia Mineral deficiency WOMAN High-level athletes
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Homologous recombination deficiency and immunotherapy response in microsatellite-stable colorectal cancer:Evidence from a cohort study in China
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作者 Hao Feng Li-Ying Zhao +4 位作者 Zhou Xu Qing-Feng Xie Hai-Jun Deng Jiang Yu Hao Liu 《World Journal of Gastrointestinal Oncology》 2025年第5期77-89,共13页
BACKGROUND Patients with colorectal cancer(CRC)exhibiting microsatellite instability(MSI)-high generally demonstrate a favorable response to immunotherapy.In contrast,the efficacy of immunotherapy in microsatellite-st... BACKGROUND Patients with colorectal cancer(CRC)exhibiting microsatellite instability(MSI)-high generally demonstrate a favorable response to immunotherapy.In contrast,the efficacy of immunotherapy in microsatellite-stable(MSS)CRC patients is considerably restricted.This study sought to evaluate the effectiveness of immu-notherapy in MSS patients characterized by homologous recombination defi-ciency(HRD)as opposed to those with homologous recombination proficiency(HRP).AIM To investigate and compare the clinicopathological characteristics,treatment modalities,and outcomes between the HRD and HRP groups in CRC.METHODS Next-generation sequencing was performed on 268 CRC patients to identify tumor-associated genetic alterations and assess their HRD scores and MSI status.Patients with HRD-related gene alterations or an HRD score≥30 were classified into the HRD group,while the remaining patients were assigned to the HRP group.Clinical data,including staging and treatment regimens,were collected for analysis.Cox regression and Kaplan-Meier survival curves were employed to evaluate whether the HRD group demonstrated improved survival outcomes following immunotherapy treatment.RESULTS Among the 268 patients,64 were classified into the HRD group,which had a higher proportion of early-stage CRC diagnoses compared to the HRP group.Kaplan-Meier survival curves indicated significantly better survival rates in the HRD group compared to the HRP group across all cohorts,as well as among MSS patients treated with immunotherapy(P<0.05).CONCLUSION This study demonstrates that CRC patients with HRD have a more favorable prognosis and suggests that HRD status could serve as a predictive marker for immunotherapy response in MSS patients. 展开更多
关键词 Colorectal cancer Homologous recombination deficiency Microsatellite-stable Prognosis IMMUNOTHERAPY
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Tuna dark muscle peptides modulate host iron metabolism in the intestine through the gut microbiota and ameliorate iron deficiency anemia
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作者 Jiaojiao Han Jiayi Xiong +7 位作者 Zhixiang Bai Yang Qin Chenyang Lu Jun Zhou Ye Li Tinghong Ming Zhen Zhang Xiurong Su 《Food Science and Human Wellness》 2025年第2期729-739,共11页
Iron deficiency anemia(IDA)is a nutritional deficiency disease with a high incidence rate worldwide.Bioactive peptides are safe and effective,have multiple functions and can serve as potential candidates for alleviati... Iron deficiency anemia(IDA)is a nutritional deficiency disease with a high incidence rate worldwide.Bioactive peptides are safe and effective,have multiple functions and can serve as potential candidates for alleviating IDA.In this study,the anti-anemia effects of tuna dark muscle peptides were explored in a dietinduced IDA mouse model.The results showed that tuna dark muscle peptides alleviated the IDA phenotype,oxidative stress and iron metabolism.In addition,tuna dark muscle peptides reversed gut microbiota dysbiosis in IDA mice.Furthermore,the transplanted fecal microbiota from tuna dark muscle peptide-treated mice also alleviated IDA symptoms and regulated iron metabolism and the gut microbiota,indicating that the antianemic effects were at least partially mediated by the gut microbiota.Thus,we identified a new and safe prebiotic material to alleviate IDA and provided ideas for the development of peptides.At the same time,these data also provided a theoretical basis for fecal microbiota transplantation to alleviate IDA. 展开更多
关键词 Iron deficiency anemia PEPTIDES Gut microbiota Fecal transplantation microbiota
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Transcription factor BnaA1.WRKY53 is involved in regulation of auxin-induced leaf curling under boron deficiency in Brassica napus
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作者 Jinliang Yao Rui Cui +4 位作者 Beibei Fang Sheliang Wang Xiangsheng Ye Zhaojun Liu Fangsen Xu 《The Crop Journal》 2025年第4期1068-1080,共13页
Brassica napus(oilseed rape)is sensitive to boron(B)deficiency and exhibits young leaf curling in response to low-B stress at the seedling stage,which leads to reduced photosynthesis and plant growth.So far,no gene ha... Brassica napus(oilseed rape)is sensitive to boron(B)deficiency and exhibits young leaf curling in response to low-B stress at the seedling stage,which leads to reduced photosynthesis and plant growth.So far,no gene has been identified to be involved in B deficiency induced leaf curling.Our previous results showed the transcription factor BnaA1.WRKY53 might be involved in B-deficiency tolerance.However,altered BnaA1.WRKY53 expression does not influence B concentration in shoot,root and leaf cell walls,which suggests Bna A1.WRKY53 might be involved in other biological processes.Indeed,phenotypic and anatomical analyses revealed that BnaA1.WRKY53 negatively regulated the leaf curling induced by leaf epinasty by suppressing the overexpansion of palisade cells under B deficiency.Further transcriptome enrichment analysis of differentially expressed genes(DEGs)between wild-type and BnaA1.WRKY53overexpression line showed auxin response pathway was enriched.In addition,Arabidopsis DR5::GFP auxin reporter line showed B deficiency caused predominant auxin signal accumulation in the adaxial side and concomitant adaxial cell expansion,which indicated that B deficiency may induce leaf curling by altering auxin distribution.Phytohormone quantification and gene expression analysis demonstrated that BnaA1.WRKY53 prevent auxin overaccumulation in leaves by suppressing auxin biosynthetic genes under B deficiency.Furthermore,exogenous 1-naphthlcetic acid(NAA)treatment experiments revealed that high auxin could induce leaf curling and BnaA1.WRKY53 expression.Overall,these findings demonstrate that auxin and the transcription factor BnaA1.WRKY53 synergistically regulate leaf curling to maintain an optimal leaf area under B deficiency,and provide novel insights into the resistance mechanisms against B-deficiency-induced leaf curling in oilseed rape. 展开更多
关键词 Brassica napus Boron deficiency Leaf curling Leaf epinasty Adaxial side AUXIN WRKY
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Marginal Selenium Deficiency Alternates Inflammatory Response through NF-κB Pathway in LPS-induced Mouse Mastitis Model
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作者 Zhang Yixin Sun Qiaochu +3 位作者 Luo Tianning Zhang Huayu Wang Fucheng Zhang Wen 《Journal of Northeast Agricultural University(English Edition)》 2025年第2期37-46,共10页
The trace element selenium(Se)occurs naturally throughout the earth.Se deficiency has been linked to impaired breast health and other diseases in human and animals.Compared to severe Se deficiency,marginal dietary Se ... The trace element selenium(Se)occurs naturally throughout the earth.Se deficiency has been linked to impaired breast health and other diseases in human and animals.Compared to severe Se deficiency,marginal dietary Se deficiency accusers more frequently in low-Se regions.Therefore,to investigate the Se status and inflammatory response of the mammary gland under marginal dietary Se levels,an lipopolysaccharide(LPS)induced mouse mastitis model was established.Mice were fed with moderate Se diet(0.087 mg•kg^(-1) Se),adequate Se diet(0.15 mg•kg^(-1) Se)or excessive Se diet(1.5 mg•kg^(-1) Se)for 60 days.Se status and inflammatory factors were investigated.Results showed that the Se status of mammary gland correlated with dietary Se levels.Marginal Se deficiency exacerbated mammary tissue histopathology;increased the mRNA level of inflammatory genes tumor necrosis factor alpha(TNF-α),interleukin-1β(IL-1β)and cyclooxygenase-2(COX-2);and enhanced the phosphorylation of NF-κB p65 in mammary gland tissues.Supplementation of Se in diet higher than recommended levels reduced the inflammatory reaction of mammary glands in LPS-induced mastitis model and provided a protective effect. 展开更多
关键词 MARGINAL selenium deficiency MASTITIS INFLAMMATION NF-κB signal pathway
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Evaluation of two algorithms measuring homologous recombination deficiency status in prognostic assessment for treatment-naive non-small cell lung cancer
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作者 Yidan Ma Jingyu Huang +13 位作者 Lei He Jun Du Longteng Liu Xiaoguang Li Peng Jiao Xiaonan Wu Wei Zhou Xiaomao Xu Li Yang Jing Di Changbin Zhu Lin Li Dongge Liu Zheng Wang 《Chinese Journal of Cancer Research》 2025年第3期352-364,共13页
Objective:Patients with homologous recombination deficiency(HRD)demonstrate distinct clinicopathological and prognostic features.However,standardised and clinically validated HRD detection methodologies specifically t... Objective:Patients with homologous recombination deficiency(HRD)demonstrate distinct clinicopathological and prognostic features.However,standardised and clinically validated HRD detection methodologies specifically tailored for non-small cell lung cancer(NSCLC)have yet to be established.Further research is needed to clarify the precise role and clinical implications of HRD in NSCLC.Methods:A cohort of 580 treatment-naive NSCLC patients was retrospectively enrolled.Comprehensive genomic profiling(CGP)was performed for all patients,and HRD status was evaluated using two genomic scar score(GSS)-based algorithms:a machine learning-based GSS(ML-GSS)and a continuous linear regression-based GSS(CLR-GSS).To assess the diagnostic performance(sensitivity and specificity)of the ML-GSS and CLR-GSS algorithms for HRD detection,immunohistochemical(IHC)staining was conducted for two HRD-related biomarkers:Schlafen 11(SLFN11)and RAD51.Survival analysis,including progression-free survival(PFS),along with multivariable Cox proportional hazards models,was performed to compare the prognostic value of the two HRD algorithms.Results:Among all patients,146(25.2%)and 46(7.9%)were classified as HRD-positive(HRD+)by ML-GSS and CLR-GSS,respectively.Using SLFN11 IHC expression as the reference standard,comparative analysis demonstrated that ML-GSS exhibited significantly higher sensitivity but lower specificity than CLR-GSS.This trend was consistently observed in RAD51 staining analysis.Compared to HRD-negative(HRD-)patients,MLGSS-defined HRD+cases displayed distinct clinicopathological and genomic features,including a higher prevalence of homologous recombination(HR)-related genes mutations,BRCA1/2 mutations,TP53 mutations,elevated tumor mutation burden(TMB),and increased copy number variations(CNVs).In contrast,CLR-GSSdefined HRD+patients were only enriched for BRCA1/2 mutations,TP53 mutations,and elevated TMB.Furthermore,ML-GSS-defined HRD+status was associated with significantly worse prognosis following first-line therapy compared to HRD-patients.Univariate and multivariable Cox analyses identified ML-GSS-defined HRD+and TP53 mutations as significant predictors and independent risk factors,respectively.No such associations were observed in the CLR-GSS-defined HRD+cohort.Conclusions:ML-GSS demonstrated superior performance to CLR-GSS in assessing chromosomal instability(CIN)and showed greater clinical utility.We recommend the ML-GSS algorithm as a robust and clinically validated tool for HRD/CIN evaluation in NSCLC.Furthermore,ML-GSS-defined HRD+status was identified as both a significant predictor and an independent risk factor. 展开更多
关键词 Non-small cell lung cancer homologous recombination deficiency methodology TP53 PROGNOSIS
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Influence of body mass index on semen quality: Examining sperm DNA fragmentation, protamine deficiency, and hormonal profiles
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作者 Mohammed M.Laqqan Maged M.Yassin 《Asian pacific Journal of Reproduction》 2025年第4期171-178,共8页
Objective:To investigate whether differences exist in DNA fragmentation levels and protamine deficiency in the sperm of obese men compared to those of overweight and proven fertile,normal weight men and evaluate the a... Objective:To investigate whether differences exist in DNA fragmentation levels and protamine deficiency in the sperm of obese men compared to those of overweight and proven fertile,normal weight men and evaluate the alterations related to reproductive hormones,semen parameters and their association with body mass index(BMI).Methods:Participants in this observational study were divided into three groups based on their BMI:proven fertile,normal weight men(n=200);overweight men(n=200);and obese men(n=200).After 3 days of abstinence,seminal fluid was collected from all participants and analyzed.Blood samples were also collected on the same day for hormonal analysis.Sperm DNA fragmentation and protamine deficiency were also assessed.Results:A total of 600 men with a mean age of(34.3±7.9)2 years were included in the study.Obese males(BMI 30 kg/m or higher)exhibited significant reductions in semen volume,sperm concentration,total sperm motility percentage,progressive motility,non-progressive motility,and levels of total testosterone,follicle-stimulating hormone(FSH)and luteinizing hormone(LH)compared to overweight(BMI 25 to 29.9 kg/m2)and normal weight males(BMI 18.5 to 24.9 kg/m2)(P<0.001).Conversely,obese males showed a significant increase in prolactin level,sperm DNA fragmentation,and protamine deficiency compared to overweight and normal weight males(P<0.001).Significant negative correlations were demonstrated between BMI and sperm concentration,motility,total testosterone,FSH and LH(P<0.001),whereas prolactin,sperm DNA fragmentation and protamine deficiency were positively correlated with BMI(P<0.001).Conclusions:This study provides clear evidence that obesity contributes potentially to male infertility by inducing sperm DNA fragmentation and protamine deficiency,as well as negatively impacting reproductive hormones and semen quality. 展开更多
关键词 Body mass index DNA fragmentation Protamine deficiency Reproductive hormonal SPERM
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Ocular findings of the patients with congenital leptin deficiency under long-term leptin replacement therapy
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作者 Ozlem Candan Sevde Nur Fırat 《International Journal of Ophthalmology(English edition)》 2025年第10期1949-1957,共9页
AIM:To analyze the ocular findings of patients who received lifelong leptin therapy due to congenital leptin deficiency(CLD),an extremely rare condition.METHODS:A prospective,cross-sectional comparative study was perf... AIM:To analyze the ocular findings of patients who received lifelong leptin therapy due to congenital leptin deficiency(CLD),an extremely rare condition.METHODS:A prospective,cross-sectional comparative study was performed on six patients with CLD and 13 healthy age-and sex-matched controls.The central corneal thickness(CCT),anterior chamber depth(ACD),axial length(AL),keratometry(K1,K2),optical coherence tomography(OCT),and OCT angiography parameters were compared between the leptin and control groups at the baseline visit.The change in these measurements in leptin patients over a two-year period was analyzed.RESULTS:CLD patients had lower mean AL,ACD,and CCT(P≤0.012 for all).Mean K1,K2(P≤0.047 for both),choroidal thickness(P≤0.001),and central ganglion cell layer(GCL)thickness(P=0.029)were higher in the leptin group.Perifoveal superficial capillary plexus(SCP)density was decreased in all quadrants except the temporal region(P<0.05),and parafoveal deep capillary plexus(DCP)density was decreased in the superior hemisphere,temporal quadrant(P≤0.036 for both)and nasal quadrant(P=0.048)in the leptin group.During the two-year follow-up,no changes in anterior and posterior segment measurements were observed in the leptin patients,except for subfoveal choroidal thickness(P<0.001).CONCLUSION:CLD patients exhibit structural alterations in both the anterior and posterior segments of the eye,including notable changes in retinal and choroidal vasculature.However,there is limited evidence concerning the influence of leptin therapy on the eye. 展开更多
关键词 congenital leptin deficiency leptin replacement treatment ocular findings axial length
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Deficiency of anterior pituitary hormones in Noonan syndrome and its impact on response to growth hormone therapy
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作者 Rajdeep Basu Soumil Bera +8 位作者 Sunetra Mondal Sapan Shah Kumar Swapnil Roohi Nanda Joydip Datta Soumita Mandal Soumik Goswami Arjun Baidya Nilanjan Sengupta 《World Journal of Clinical Pediatrics》 2025年第4期232-242,共11页
BACKGROUND Noonan syndrome(NS)is an autosomal dominant,multisystem disorder with a prevalence of 1 in 1000-2500.Multiple etiologies have been proposed for short stature in NS,including resistance to growth hormone(GH)... BACKGROUND Noonan syndrome(NS)is an autosomal dominant,multisystem disorder with a prevalence of 1 in 1000-2500.Multiple etiologies have been proposed for short stature in NS,including resistance to growth hormone(GH)and GH deficiency(GHD).Irrespective of the presence of GHD,NS is a Food and Drug Administration-approved indication for recombinant-GH therapy.Few case reports of combined anterior pituitary hormone deficiency(CPHD)in NS have been reported.AIM To describe the clinico-biochemical characteristics of NS with CPHD and to assess the response to recombinant GH therapy.METHODS An ambispective case-control study was conducted to compare the clinicohormonal profile and response to recombinant-GH in pediatric patients with NS and CPHD and pediatric patients with NS but without CPHD.RESULTS Five children with NS and CPHD were compared to 6 patients with NS but without CPHD.The most common anterior pituitary hormone involvement in combination with GHD was adrenocorticotrophic hormone deficiency causing hypocortisolemia(n=3,60%),followed by hypogonadotropic hypogonadism and secondary hypothyroidism(n=1 each).Pituitary hypoplasia was seen in the magnetic resonance imaging of all patients with CPHD.Patients with NS and CPHD had lower standard deviation scores of height(-4.18 vs-2.52,P=0.009),bodyweight,and body mass index but a slightly better first year response to recombinant GH(9.2 vs 5.5,P=0.06).There were no differences in dysmorphisms and other anomalies between the two groups.Patients with NS and CPHD had a similar response to GH as patients with CPHD but without NS.One patient with NS and CPHD developed hypocortisolism after GH initiation.CONCLUSION Hypoplasia of the pituitary and GHD with involvement of other pituitary hormones may be seen in NS and may determine response to recombinant GH therapy. 展开更多
关键词 Noonan syndrome RASopathy Clinico-hormonal profile Combined pituitary hormone deficiency Growth hormone therapy
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Encapsulated ferric pyrophosphate improves intestinal inflammation and gut flora disorder in suckling rats with iron deficiency anemia
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作者 Mengxiao Hu Lili Qiu +5 位作者 Rui Song Xiyu Qin Xiaoxue Liu Zidi Tan Rong Liu Xiaoyu Wang 《Food Science and Human Wellness》 2025年第8期3088-3096,共9页
The prevalence of iron deficiency anemia(IDA)remains high in infants,resulting in growth retardation,neurodevelopmental impairment,immunodeficiency and other irreversible injuries.Efficient and safe iron supplementati... The prevalence of iron deficiency anemia(IDA)remains high in infants,resulting in growth retardation,neurodevelopmental impairment,immunodeficiency and other irreversible injuries.Efficient and safe iron supplementation for infants has been the goal of recent research.This study aims to investigate the effect of encapsulated ferric pyrophosphate(FePP)on intestinal inflammation and gut microbiota in IDA suckling rats.Newborn Sprague-Dawley rats were gavaged with low and high doses of FePP and FeSO4(2 and 10 mg Fe/kg BW,respectively)during postnatal days 2-14,while the Ctrl group was gavaged with saline.Results showed that FePP supplementation was as effective as FeSO4 in promoting growth,alleviating anemia and restoring body iron levels.Both low and high doses of FePP could significantly down-regulate the expression of pro inflammatory cytokines in the colon to the level similar to that in the Ctrl group(P>0.05).However,the high dose of FeSO4 did not show a down-regulation effect.Compared with the Ctrl group,IDA caused a disturbance of gut microbiota composition in suckling rats,and FePP could restore this dysbiosis.Besides,FePP was more beneficial than FeSO4 in increasing the abundance of beneficial bacteria such as Bacteroides and Akkermansia.Spearman’s correlation analysis showed a correlation between gut microbiota and biochemical indicators such as iron status,pro-inflammatory cytokine expression,and oxidative stress level.Overall,these findings suggested that FePP could effectively improve IDA,and is more effective than FeSO4 in alleviating intestinal inflammation and regulating gut microbiota,which provides a basis for the application of new iron fortificant in infant formula. 展开更多
关键词 Encapsulated ferric pyrophosphate Iron deficiency anemia Suckling rats Intestinal inflammation Gut microbiota
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Gas chromatography-mass spectrometry-based plasma metabolomics analysis in hypertensive patients with Yin deficiency and Yang hyperactivity syndrome
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作者 Dinala Jialiken Jing Dai +4 位作者 Ya-Dong Fan Hai-Tao Zhang Jin-Jun Shan Wei-Chen Xu Chong Zou 《World Journal of Experimental Medicine》 2025年第3期134-144,共11页
BACKGROUND Hypertension is a significant global health concern and serves as a critical risk factor for cardiovascular diseases,stroke,and renal failure.Traditional Chinese Medicine(TCM)has been utilized for an extend... BACKGROUND Hypertension is a significant global health concern and serves as a critical risk factor for cardiovascular diseases,stroke,and renal failure.Traditional Chinese Medicine(TCM)has been utilized for an extended period to address hypertension,with the syndrome known as Yin deficiency and Yang hyperactivity syndrome(YDYHS)frequently observed in individuals with elevated blood pressure.This syndrome is characterized by symptoms including dizziness,tinnitus,irritability,and insomnia,which are thought to result from an imbalance between Yin,representing the cooling and nourishing aspects,and Yang,denoting the active and warming aspects of the body.Despite the prevalent application of TCM in clinical settings,the metabolic mechanisms underlying the YDYHS in the context of hypertension remain inadequately elucidated.AIM To explore the differential plasma metabolites and associated pathways in hypertensive patients with YDYHS using gas chromatography-mass spectrometry(GC-MS)to elucidate the distinctive blood metabolite pattern in this patient population.METHODS GC-MS was used to analyze plasma samples from 51 hypertensive patients with YDYHS and 20 healthy controls.Chemometric methods,including principal component analysis and partial least squares discriminant analysis,were employed to identify potential biochemical patterns.Simultaneously,the high-quality Kyoto Encyclopedia of Genes and Genomes metabolic pathways database was used to identify associated metabolic pathways.Using variable importance in projection and receiver operating characteristic curve analyses,potential biomarkers were extracted to assess their clinical utility.RESULTS Metabolomic profiling of hypertensive patients with YDYHS identified 20 potential biomarkers(4-hydroxybenzoic acid,pectin,1,2,3-trihydroxybenzene,D-ribose,3-hydroxybutyric acid,quinic acid,L-lysine,oleic acid,2-hydroxybutyric acid,linoleic acid,citric acid,alpha-tocopherol,D-glucuronic acid,glycerol,N-acetyl-L-aspartic acid,betamannosylglycerate,indolelactic acid,L-glutamic acid,D-maltose,L-aspartic acid)and four metabolic pathways(linoleic acid metabolism;alanine,aspartate and glutamate metabolism;D-glutamine and D-glutamate metabolism;arginine biosynthesis).The identified differential metabolites may serve as potential biomarkers for distinguishing hypertensive patients with YDYHS from healthy controls.The area under the curve values ranged from 0.750 to 0.866.Receiver operating characteristic curve analysis showed that these differential metabolites can effectively classify hypertensive patients with YDYHS and healthy individuals.CONCLUSION The metabolomic analysis revealed a distinct blood metabolite pattern in hypertensive patients with YDYHS compared to the healthy control group,highlighting the potential role of the identified 20 biomarkers and four metabolic pathways in these patients.These findings may serve as an important material basis for understanding the occurrence and development of the disease,providing a scientific foundation for future clinical diagnosis. 展开更多
关键词 HYPERTENSION Metabolomics Gas chromatography-mass spectrometry Yin deficiency and Yang hyperactivity syndrome Syndrome differentiation
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Development of a machine learning-based risk prediction model for mild cognitive impairment with spleen-kidney deficiency syndrome in the elderly
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作者 Ya-ting Ai Shi Zhou +6 位作者 Ming Wang Tao-yun Zheng Hui Hu Yun-cui Wang Yu-can Li Xiao-tong Wang Peng-jun Zhou 《Journal of Integrative Medicine》 2025年第4期390-397,共8页
Objective:As an age-related neurodegenerative disease,the prevalence of mild cognitive impairment(MCI)increases with age.Within the framework of traditional Chinese medicine,spleen-kidney deficiency syndrome(SKDS)is r... Objective:As an age-related neurodegenerative disease,the prevalence of mild cognitive impairment(MCI)increases with age.Within the framework of traditional Chinese medicine,spleen-kidney deficiency syndrome(SKDS)is recognized as the most frequent MCI subtype.Due to the covert and gradual onset of MCI,in community settings it poses a significant challenge for patients and their families to discern between typical aging and pathological changes.There exists an urgent need to devise a preliminary diagnostic tool designed for community-residing older adults with MCI attributed to SKDS(MCI-SKDS).Methods:This investigation enrolled 312 elderly individuals diagnosed with MCI,who were randomly distributed into training and test datasets at a 3:1 ratio.Five machine learning methods,including logistic regression(LR),decision tree(DT),naive Bayes(NB),support vector machine(SVM),and gradient boosting(GB),were used to build a diagnostic prediction model for MCI-SKDS.Accuracy,sensitivity,specificity,precision,F1 score,and area under the curve were used to evaluate model performance.Furthermore,the clinical applicability of the model was evaluated through decision curve analysis(DCA).Results:The accuracy,precision,specificity and F1 score of the DT model performed best in the training set(test set),with scores of 0.904(0.845),0.875(0.795),0.973(0.875)and 0.973(0.875).The sensitivity of the training set(test set)of the SVM model performed best among the five models with a score of 0.865(0.821).The area under the curve of all five models was greater than 0.9 for the training dataset and greater than 0.8 for the test dataset.The DCA of all models showed good clinical application value.The study identified ten indicators that were significant predictors of MCI-SKDS.Conclusion:The risk prediction index derived from machine learning for the MCI-SKDS prediction model is simple and practical;the model demonstrates good predictive value and clinical applicability,and the DT model had the best performance. 展开更多
关键词 Mild cognitive impairment Machine learning Spleen-kidney deficiency syndrome Traditional Chinese medicine Risk factors
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Metformin-induced vitamin B12 deficiency: An underdiagnosed cause of diabetic neuropathy
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作者 Mauricio Alvarez Andres E Prieto +3 位作者 Natalia Portilla Diana Moya Oswaldo Rincon Isaac Guzman 《World Journal of Diabetes》 2025年第7期74-82,共9页
Metformin-induced vitamin B12 deficiency is a prevalent condition among pa-tients with type 2 diabetes mellitus.In recent years,a growing body of evidence has demonstrated the association between vitamin B12 deficienc... Metformin-induced vitamin B12 deficiency is a prevalent condition among pa-tients with type 2 diabetes mellitus.In recent years,a growing body of evidence has demonstrated the association between vitamin B12 deficiency and the onset,progression,and worsening of diabetic neuropathy(DNP)as well as its im-provement with supplementation in cases of deficiency.Major clinical guidelines for diabetes and DNP remain vague in their recommendations for B12 measu-rement and supplementation,and some guidelines do not address it at all.Given that vitamin B12 therapy is an economical,safe,and widely available treatment in most countries and supported by emerging evidence of its potential benefits,greater efforts should be made to promote systematic screening for vitamin B12 deficiency in all patients with DNP before establishing a definitive diagnosis as well as in patients with diabetes with risk factors for deficiency.Vitamin B12 deficiency should be treated in all affected patients,and supplementation should be considered in those with borderline levels when confirmatory diagnostic tests for deficiency are unavailable.Clinical guidelines should place greater emphasis on the recommendations for measuring and supplementing vitamin B12 in these patients. 展开更多
关键词 METFORMIN Vitamin B12 deficiency Diabetic neuropathy Type 2 diabetes mellitus Clinical guidelines
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Early Curative Effect Observation of Shenqi Hexue Decoction in the Treatment of Qi Blood Deficiency Syndrome after PKP for Thoracolumbar Metastases with Pathological Vertebral Fractures
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作者 Xihua Zhang Pingqin Luo +4 位作者 Zhongyu Peng Huzhen Liu Chengzheng Zhou Hongchi Yi Chen Tao 《Proceedings of Anticancer Research》 2025年第4期75-84,共10页
Objective:After percutaneous kyphoplasty(PKP),patients with pathological vertebral fractures of thoracolumbar metastases often have Qi and blood deficiency syndrome and hidden blood loss,resulting in postoperative deb... Objective:After percutaneous kyphoplasty(PKP),patients with pathological vertebral fractures of thoracolumbar metastases often have Qi and blood deficiency syndrome and hidden blood loss,resulting in postoperative debilitation syndrome.This study aimed to evaluate the clinical efficacy and mechanism of Shenqi Hexue Decoction on early postoperative recovery of such patients.Methods:36 Patients were randomly divided into an experimental group(Shenqi Hexue Decoction+conventional treatment)and a control group(conventional treatment).The changes of hemoglobin(HB),Karnofsky functional status(KPS)score,and TCM syndrome score on the 1st,4th,and 7th day after operation were observed.Results:The HB value of the experimental group was significantly higher than that of the control group on the 4th and 7th days after operation(p<0.01),and the maximum decline value of HB decreased by 42.1%(p<0.001);The improvement rate of KPS score in the experimental group was 94.4%on the 7th day after operation,which was significantly better than 66.7%in the control group(p<0.05).The total effective rate of TCM syndrome efficacy was 94.4%in the experimental group and 72.2%in the control group(p<0.05);No drug-related serious adverse reactions were found.Conclusion:Shenqi Hexue decoction can effectively improve the anemia state and activity ability of patients with Qi blood deficiency syndrome in the early stage after PKP,and its possible mechanism involves multi-target regulation such as hematopoietic regulation,microcirculation improvement and inflammation inhibition,with good safety. 展开更多
关键词 Thoracolumbar metastases Qi and blood deficiency syndrome Shenqi Hexue Decoction Curative effect
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