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Research Progress on the Influencing Factors and Preventive Interventions of Iron Deficiency
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作者 Zhen Hui Yue Lu 《Expert Review of Chinese Medical》 2024年第2期23-29,共7页
Iron is an important element that maintains the normal operation of the body.It not only participates in various physiological reactions as a component of various enzymes,but also is an indispensable component in the ... Iron is an important element that maintains the normal operation of the body.It not only participates in various physiological reactions as a component of various enzymes,but also is an indispensable component in the synthesis of hemoglobin(Hb)and myoglobin,which transport oxygen.About two-thirds of the iron in the body is stored in the Hb of red blood cells,with a small amount present in myoglobin in muscle tissue and enzymes required for various metabolic reactions.The remaining amount is mostly in the form of ferritin as a mobilized iron reserve.When dietary iron intake is limited and the stored iron in the body is insufficient or depleted,iron deficiency occurs.Iron deficiency can be further divided into three stages based on their severity,namely iron deficiency(ID),iron deficiency erythropoiesis(IDE),and iron deficiency anemia(IDA).This study aims to explore the prevalence,diagnosis and differentiation,influencing factors,and preventive interventions of iron deficiency. 展开更多
关键词 EPIDEMIC influencing factors research progress
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Abnormal ACT in a Patient with Prekallikrein Deficiency Undergoing Cardiopulmonary Bypass
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作者 Maria R. Fuertes Naila Ahmad +3 位作者 Orlando Perez-Franco Andrew Oster Marion Svendrowski Pin Yue 《Open Journal of Anesthesiology》 2024年第5期145-149,共5页
Prekallikrein deficiency is a disorder that often remains undiagnosed. Prekallikrein activates factor XII, which initiates the intrinsic coagulation pathway. Prekallikrein deficiency results in prolonged Partial Throm... Prekallikrein deficiency is a disorder that often remains undiagnosed. Prekallikrein activates factor XII, which initiates the intrinsic coagulation pathway. Prekallikrein deficiency results in prolonged Partial Thromboplastin Time and Activated Clotting Time in absence of anticoagulants or active bleeding. This case report describes the anesthesia management of a patient with Prekallikrein deficiency who underwent cardiac surgery with Cardiopulmonary Bypass for correction of a congenital cardiac malformation. We highlight the importance of understanding the different tests available for the diagnosis of coagulation factors deficiency during administration of heparin in the setting of cardiovascular procedures under general anesthesia. 展开更多
关键词 Prekallikrein deficiency Fletcher factor deficiency Cardiopulmonary Bypass Congenital Cardiac Malformation
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Study on improving hematopoietic function of rats with blood deficiency syndrome by Shengxuebao mixture
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作者 Yan Shu Hong-Na Liu +5 位作者 Yang Zhao Jin-Yi Cao Yue Chen Yi Qiao Hui Guo Zhi-Fu Yang 《Traditional Medicine Research》 2024年第8期35-46,共12页
Background:Shengxuebao mixture(SXBM)is a novel herbal drug approved by China State Food and Drug Administration for the treatment of Leukopenia and iron deficiency anemia caused by radiotherapy and chemotherapy.Method... Background:Shengxuebao mixture(SXBM)is a novel herbal drug approved by China State Food and Drug Administration for the treatment of Leukopenia and iron deficiency anemia caused by radiotherapy and chemotherapy.Methods:To explore the mechanism of SXBM in treating blood deficiency syndrome(BDS).Firstly,network pharmacology and in vivo experiments were used to screen candidate targets and important signaling pathways of SXBM,GO functional enrichment and KEGG pathway analysis were performed.Secondly,a BDS rat model was established to verify the results of the analysis of network pharmacological enrichment.Histopathology and routine peripheral blood examination were observed.The expressions of tumor necrosis factor-α,interleukin(IL)-6,HIF-1αand NF-κB were detected by Western blot,and the expressions of IL-6,IL-1βwere detected by ELISA.Results:62 bioactive components,66 potential targets and 131 signaling pathways of BDS were successfully identified by network pharmacology.Molecular docking simulation techniques showed that key targets tumor necrosis factor-α,IL-6,IL-1βcan dock well with crucial components,and the BDS-related signaling pathways HIF-1 and JAK-STAT play a vital role.The combined model experiment of acetylphenylhydrazine and cyclophosphamide showed that the model group had obvious blood deficiency,and the histopathology and blood routine were effectively restored after administration.Our findings indicate that SXBM’s therapeutic effect on BDS primarily involves the mediation of the HIF-1α/NF-κB signaling pathway and the regulation of hematopoietic factor expression.Conclusion:This study not only affirmed the protective properties of SXBM against BDS but also provided insights into a potential mechanism for blood replenishment in the treatment of BDS using SXBM. 展开更多
关键词 network pharmacology molecular docking technology blood deficiency syndrome hematopoietic factors HIF-1α/NF-κB
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Parenteral iron therapy in children with iron deficiency anemia
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作者 Jelena Roganovic 《World Journal of Clinical Cases》 SCIE 2024年第13期2138-2142,共5页
Iron deficiency anemia(IDA)continues to be a global public health problem.Oral iron is the universally accepted first-line therapy,and most children have a prompt and favorable response to oral formulations.In subsets... Iron deficiency anemia(IDA)continues to be a global public health problem.Oral iron is the universally accepted first-line therapy,and most children have a prompt and favorable response to oral formulations.In subsets of children who fail to respond due to intolerance,poor adherence,or inadequate intestinal absorption,parenteral iron is indicated.Despite numerous studies in adults with IDA of diverse etiologies,pediatric studies on parenteral iron use are very limited.Although mostly retrospective and small,these studies have documented the efficacy and safety profile of intravenous iron formulations.In this editorial the author comments on the most important published data and underscores the need to seriously consider parenteral iron use in children unresponsive to oral therapy. 展开更多
关键词 ANEMIA Iron deficiency Intravenous iron Iron deficiency anemia CHILDREN
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A Budd-Chiari Syndrome Due to C Protein Deficiency: A Case Report at YaoundéGeneral Hospital (Cameroon)
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作者 Antonin Wilson Ndjitoyap Ndam Gilles Gael Aghoagni Gouajio +5 位作者 Armel Awana Tenone Danah Larry Tangie Ngek Mathurin Kowo Firmin Andoulo Ankouane Elie Claude Ndjitoyap Ndam 《Open Journal of Gastroenterology》 CAS 2024年第4期117-124,共8页
Primary Budd-Chiari syndrome (BCS) is a spontaneously fatal disease characterized by an obstruction of the hepatic venous outflow tract due to thrombosis or a primary disease of the venous wall. The primary form of BC... Primary Budd-Chiari syndrome (BCS) is a spontaneously fatal disease characterized by an obstruction of the hepatic venous outflow tract due to thrombosis or a primary disease of the venous wall. The primary form of BCS is extremely rare. This is a disease mainly affecting young adults of both sexes. Clinical manifestations are variable;they can be asymptomatic, acute, or subacute but mostly chronic. Several causes have been identified, such as myeloproliferative syndrome, antiphospholipid syndrome, paroxysmal nocturnal hemoglobinuria, and inherited thrombotic disorders. Data on primary BCS in Sub-Saharan Africa is rare as most publications available are case reports. In these reports, the causes are unknown with poor prognosis in most cases often leading to patient death. We herein present a case report of a male patient diagnosed with a primary BCS at Yaoundé General Hospital (Cameroon) caused by a Protein C deficiency who presented with ascites decompensating liver cirrhosis. Treatment was based on anticoagulants, diuretics and laxatives administration. Two years after the diagnosis, the patient is alive with clinical and paraclinical improvement. 展开更多
关键词 Budd-Chiari Syndrome Hepatic Veins Liver Cirrhosis Protein C deficiency Cameroon
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Changes in Metabolites and Allelopathic Effects of Non-Pigmented and Black-Pigmented Lowland Indica Rice Varieties in Phosphorus Deficiency
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作者 Liyana SARA Sompop SAEHENG +1 位作者 Panupong PUTTARAK Lompong KLINNAWEE 《Rice science》 SCIE CSCD 2024年第4期434-448,I0025,I0026,共17页
Phosphorus(P) levels alter the allelopathic activity of rice seedlings against lettuce seeds. In this study, we investigated the effect of P deficiency on the allelopathic potential of non-pigmented and pigmented rice... Phosphorus(P) levels alter the allelopathic activity of rice seedlings against lettuce seeds. In this study, we investigated the effect of P deficiency on the allelopathic potential of non-pigmented and pigmented rice varieties. Rice seedlings of the white variety Khao Dawk Mali(KDML105, non-pigmented) and the black varieties Jao Hom Nin(JHN, pigmented) and Riceberry(RB, pigmented) were cultivated under high P(HP) and low P(LP) conditions. Morphological and metabolic responses to P deficiency were investigated. P deficiency inhibited shoot growth but promoted root growth of rice seedlings in all three varieties. Moreover, P deficiency led to decreased cytosolic phosphate(Pi) and total P concentrations in both shoot and root tissues. The subsequent reduction in internal P concentration enhanced the accumulation of phenolic compounds in both shoot and root tissues of the seedlings. Subsequently, allelopathy-based inter-and intra-specific interactions were assessed using water extracts from seedlings of the three varieties grown under HP and LP conditions. These extracts were tested on seeds of lettuce, the weed Dactyloctenium aegyptium, and the same rice variety. The shoot and root extracts from P-deficient seedlings reduced the germination of all recipient plants. Specifically, the shoot extract from P-deficient KDML105 seedlings reduced the germination index(GI) of lettuce seeds to 1%, while those from P-deficient RB and JHN seedlings produced GIs of 32% and 42%, respectively. However, when rice seeds were exposed to their own LP shoot and root extracts, their GIs increased up to 4-fold, compared with the HP extracts. Additionally, the shoot extracts from P-deficient plants also stimulated the germination of D. aegyptium by about 2–3-fold, whereas the root extracts did not have this effect. Therefore, P starvation led to the accumulation and exudation of phenolics in the shoots and roots of rice seedlings, altering their allelopathic activities. To adapt to P deficiency, rice seedlings potentially release signaling chemicals to suppress nearby competing species while simultaneously promoting their own germination and growth. 展开更多
关键词 phosphorus deficiency non-pigmented and black-pigmented rice phenolics extract ALLELOPATHY
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A comparison of the effect of alendronate and You-Gui-Wan on osteoporosis in female rats with kidney-yang deficiency
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作者 Mei-Mei Wu Xing-Peng He +8 位作者 Wan-Ting Wu Wen-Jie Lu Yan-Yang Mai Kun-Cai Xu Yao-Feng Zhi Hai-Xin Mo Jia-Di He Xin Zhang Peng-Fei Li 《Traditional Medicine Research》 2024年第6期31-41,共11页
Background:In traditional Chinese medicine,You-Gui-Wan(YGW)is typically used to treat osteoporosis associated with kidney-yang deficiency.However,there have been few mechanistic studies on the effectiveness of kidney-... Background:In traditional Chinese medicine,You-Gui-Wan(YGW)is typically used to treat osteoporosis associated with kidney-yang deficiency.However,there have been few mechanistic studies on the effectiveness of kidney-yang deficiency-type osteoporosis with YGW.To further clarify the role of YGW in the effect of osteoporosis with kidney-yang deficiency,the study analyzed the therapeutic advantages of YGW by comparing the therapeutic effects of YGW and alendronate(ALN)on osteoporosis with kidney-yang deficiency.Methods:SPF female SD rats were randomly divided into control,osteoporosis,osteoporosis with kidney-yang deficiency,osteoporosis with kidney-yang deficiency+YGW and osteoporosis with kidney-yang deficiency+ALN groups.Except for the control group,osteoporosis was induced by the removal of bilateral ovaries.After 12 weeks,rats with osteoporosis in the kidney-yang deficiency group had kidney-yang deficiency syndrome triggered by hydrocortisone for 14 days.Rats were treated with YGW or ALN for 12 weeks.The weights of rats were recorded.Hematoxylin-eosin staining staining was used to observe pathological changes in bone trabeculae,liver,spleen,and kidneys of rats.Depletion of the growth plate cartilage of rats in different groups was observed by safranine-O staining.The expression of osteoclast key indices(ACP)and osteoblast key indices(ALP)in the bone tissue of rats in the different groups was observed by immunohistochemical staining.The expression of bone resorption-related indicators(TRAP and NXT-1),bone formation-related indicators(BALP,BGP,and P1NP),and major indicators of kidney-yang deficiency(ACTH,T3,T4,cAMP,and cGMP)were observed using an ELISA detection kit.The expression levels of the main indices of liver function(ALT and AST)were detected in different groups.Results:The differences between the osteoporosis with kidney-yang deficiency group and osteoporosis group were that the weight of rats and the expression of ACTH,T3,T4,and cAMP decreased significantly,and the expression of cGMP increased in the osteoporosis with kidney-yang deficiency group.Moreover,both YGW and ALN effectively improved the symptoms of osteoporosis,including the injury of bone trabeculae and growth plates,as well as the expression of bone metabolism-related indicators.However,unlike ALN,YGW simultaneously ameliorated the expression of key indicators of kidney-yang deficiency and prevented weight loss in rats.In addition,YGW caused no obvious damage to the liver,spleen,or kidney,whereas ALN led to liver cirrhosis.Conclusion:The results reveal that YGW plays a crucial part in osteoporosis with kidney-yang deficiency,increases bone mineral density,and improves bone metabolism indicators,and is safe and efficient for the efficacy of osteoporosis with kidney-yang deficiency.YGW might have a better therapeutic effect on osteoporosis in patients with kidney-yang deficiency.Therefore,alendronate should be used cautiously in patients with osteoporosis and poor liver function. 展开更多
关键词 OSTEOPOROSIS kidney-yang deficiency You-Gui-Wan ALENDRONATE
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Is magnesium deficiency the major cause of needle chlorosis of Pinus taeda in Brazil?
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作者 Antônio Carlos Vargas Motta Shizuo Maeda +6 位作者 Valdécio dos Santos dos Santos Rodrigues Tamires Maiara Ercole Stephen Arthur Prior Ana Elisa Lyra Brumat Amanda Pacheco Cardoso Moura Julierme Zimmer Barbosa João Bosco Vasconcellos Gomes 《Journal of Forestry Research》 SCIE EI CAS CSCD 2024年第2期209-221,共13页
Needle chlorosis(NC)in Pinus taeda L.systems in Brazil becomes more frequent after second and third harvest rotation cycles.In a study to identify factors contributing to yellowing needle chorosis(YNC),trees were grow... Needle chlorosis(NC)in Pinus taeda L.systems in Brazil becomes more frequent after second and third harvest rotation cycles.In a study to identify factors contributing to yellowing needle chorosis(YNC),trees were grown in soils originating from contrasting parent materials,and soils and needles(whole,green and chlorotic portions)from 1-and 2-year-old branches and the first and second needle flush release at four sites with YNC on P.taeda were analyzed for various elements and properties.All soils had very low base levels(Ca^(2+),Mg^(2+)and K^(+))and P,suggesting a possible lack of multiple elements.YNC symptoms started at needle tips,then extended toward the needle base with time.First flush needles had longer portions with YNC than second flush needles did.Needles from the lower crown also had more symptoms along their length than those higher in the canopy.Symptoms were similar to those reported for Mg.In chlorotic portions,Mg and Ca concentrations were well below critical values;in particular,Mg levels were only one third of the critical value of 0.3 g kg^(-1).Collectively,results suggest that Mg deficiency is the primary reason for NC of P.taeda in various parent soils in Brazil. 展开更多
关键词 Nutritional deficiency Forest management Soil depletion Pine foliar analysis Needle chlorosis
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Carbon Monoxide Modulates Auxin Transport and Nitric Oxide Signaling in Plants under Iron Deficiency Stress
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作者 Kaiyue Hong Yasmina Radani +2 位作者 Waqas Ahmad Ping Li Yuming Luo 《Phyton-International Journal of Experimental Botany》 SCIE 2024年第1期45-61,共17页
Carbon monoxide(CO)and nitric oxide(NO)are signal molecules that enhance plant adaptation to environmental stimuli.Auxin is an essential phytohormone for plant growth and development.CO and NO play crucial roles in mo... Carbon monoxide(CO)and nitric oxide(NO)are signal molecules that enhance plant adaptation to environmental stimuli.Auxin is an essential phytohormone for plant growth and development.CO and NO play crucial roles in modulating the plant’s response to iron deficiency.Iron deficiency leads to an increase in the activity of heme oxygenase(HO)and the subsequent generation of CO.Additionally,it alters the polar subcellular distribution of Pin-Formed 1(PIN1)proteins,resulting in enhanced auxin transport.This alteration,in turn,leads to an increase in NO accumulation.Furthermore,iron deficiency enhances the activity of ferric chelate reductase(FCR),as well as the expression of the Fer-like iron deficiency-induced transcription factor 1(FIT)and the ferric reduction oxidase 2(FRO2)genes in plant roots.Overexpression of the long hypocotyl 1(HY1)gene,which encodes heme oxygenase,or the CO donor treatment resulted in enhanced basipetal auxin transport,higher FCR activity,and the expression of FIT and FRO2 genes under Fe deficiency.Here,a potential mechanism is proposed:CO and NO interact with auxin to address iron deficiency stress.CO alters auxin transport,enhancing its accumulation in roots and up-regulating key iron-related genes like FRO2 and IRT1.Elevated auxin levels affect NO signaling,leading to greater sensitivity in root development.This interplay promotes FCR activity,which is crucial for iron absorption.Together,these molecules enhance iron uptake and root growth,revealing a novel aspect of plant physiology in adapting to environmental stress. 展开更多
关键词 Carbon monoxide nitric oxide AUXIN iron deficiency signal molecule PLANTS
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Effect of Artemisia annua (Asteraceae) Extracts on Hemolysis in Individuals with G6PD-Deficiency
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作者 Jescica Bonarck Sohou Casimir Jiras Kpego Ligan +3 位作者 Salomon Ezechiel Mahougnon Fiogbe Thierry Comlan Marc Medehouenou Fifame Esperance Elvire Kougnimon Casimir Dewanou Akpovi 《Journal of Biosciences and Medicines》 2024年第3期303-315,共13页
Individuals with Glucose-6-phosphate dehydrogenase (G6PD) deficiency are susceptible to hemolytic anemia when exposed to pro-oxidant substances. This study investigates the hemolytic impact of Artemisia annua (A. annu... Individuals with Glucose-6-phosphate dehydrogenase (G6PD) deficiency are susceptible to hemolytic anemia when exposed to pro-oxidant substances. This study investigates the hemolytic impact of Artemisia annua (A. annua) extracts in G6PD-deficient subjects through a mixed experimental approach. In the in vitro phase, red blood cells from G6PD-deficient individuals and rats induced with Dehydroepiandrosterone (DHEA) were exposed to various concentrations of A. annua infusion, with distilled water and physiological saline as positive and negative controls respectively. The in vivo study involved G6PD-deficient Wistar rats divided into three groups receiving A. annua infusion, quinine (positive control), and distilled water (negative control) via gavage. Blood samples were collected for biochemical and hematological analyses. Notably, at a 40% concentration of A. annua infusion, there was a significant increase in the hemolysis rate of G6PD-deficient red blood cells compared to controls (p A. annua exhibited elevated aspartate aminotransferase (129.25 ± 4.55 U/L vs. 80.09 ± 4.03 U/L;p A. annua infusion tested positive for saponins. These findings underscore the risk of hemolysis in G6PD-deficient individuals upon ingesting A. annua. 展开更多
关键词 Artemisia annua INFUSION SAPONINS G6PD deficiency HEMOLYSIS
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Protein C deficiency with venous and arterial thromboembolic events
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作者 Nan Zhang Dong-Kun Sun +2 位作者 Xu Tian Xin-Yu Zheng Tong Liu 《World Journal of Clinical Cases》 SCIE 2024年第12期2000-2003,共4页
Protein C(PC)is a key component of the vitamin K-dependent coagulation pathway.It exerts anticoagulant effects by inactivating factors V and VIII.Acquired or inherited PC deficiency results in a prothrombotic state,wi... Protein C(PC)is a key component of the vitamin K-dependent coagulation pathway.It exerts anticoagulant effects by inactivating factors V and VIII.Acquired or inherited PC deficiency results in a prothrombotic state,with presentations varying from asymptomatic to venous thromboembolism.However,there has been an increasing number of reports linking PC deficiency to arterial thromboembolic events,such as myocardial infarction and ischemic stroke.This editorial focuses on the association between PC deficiency and thromboembolism,which may provide some insights for treatment strategy and scientific research. 展开更多
关键词 Protein C deficiency Venous thromboembolism Myocardial infarction EDITORIAL Arterial thromboembolism
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Clinical and molecular significance of homologous recombination deficiency positive non-small cell lung cancer in Chinese population:An integrated genomic and transcriptional analysis
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作者 Yifei Wang Yidan Ma +14 位作者 Lei He Jun Du Xiaoguang Li Peng Jiao Xiaonan Wu Xiaomao Xu Wei Zhou Li Yang Jing Di Changbin Zhu Liming Xu Tianlin Sun Lin Li Dongge Liu Zheng Wang 《Chinese Journal of Cancer Research》 SCIE CAS CSCD 2024年第3期282-297,共16页
Objective:The clinical significance of homologous recombination deficiency(HRD)in breast cancer,ovarian cancer,and prostate cancer has been established,but the value of HRD in non-small cell lung cancer(NSCLC)has not ... Objective:The clinical significance of homologous recombination deficiency(HRD)in breast cancer,ovarian cancer,and prostate cancer has been established,but the value of HRD in non-small cell lung cancer(NSCLC)has not been fully investigated.This study aimed to systematically analyze the HRD status of untreated NSCLC and its relationship with patient prognosis to further guide clinical care.Methods:A total of 355 treatment-naïve NSCLC patients were retrospectively enrolled.HRD status was assessed using the AmoyDx Genomic Scar Score(GSS),with a score of≥50 considered HRD-positive.Genomic,transcriptomic,tumor microenvironmental characteristics and prognosis between HRD-positive and HRDnegative patients were analyzed.Results:Of the patients,25.1%(89/355)were HRD-positive.Compared to HRD-negative patients,HRDpositive patients had more somatic pathogenic homologous recombination repair(HRR)mutations,higher tumor mutation burden(TMB)(P<0.001),and fewer driver gene mutations(P<0.001).Furthermore,HRD-positive NSCLC had more amplifications in PI3K pathway and cell cycle genes,MET and MYC in epidermal growth factor receptor(EGFR)/anaplastic lymphoma kinase(ALK)mutant NSCLC,and more PIK3CA and AURKA in EGFR/ALK wild-type NSCLC.HRD-positive NSCLC displayed higher tumor proliferation and immunosuppression activity.HRD-negative NSCLC showed activated signatures of major histocompatibility complex(MHC)-II,interferon(IFN)-γand effector memory CD8+T cells.HRD-positive patients had a worse prognosis and shorter progressionfree survival(PFS)to targeted therapy(first-and third-generation EGFR-TKIs)(P=0.042).Additionally,HRDpositive,EGFR/ALK wild-type patients showed a numerically lower response to platinum-free immunotherapy regimens.Conclusions:Unique genomic and transcriptional characteristics were found in HRD-positive NSCLC.Poor prognosis and poor response to EGFR-TKIs and immunotherapy were observed in HRD-positive NSCLC.This study highlights potential actionable alterations in HRD-positive NSCLC,suggesting possible combinational therapeutic strategies for these patients. 展开更多
关键词 Non-small cell lung cancer homologous recombination deficiency genetic alterations transcriptional analysis tumor microenvironment PROGNOSIS
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Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency
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作者 Bi-xin XI Si-ying LIU +3 位作者 Yu-ting XU De-dong ZHANG Qun HU Ai-guo LIU 《Current Medical Science》 SCIE CAS 2024年第2期426-434,共9页
Objective:Glucose-6-phosphate isomerase(GPI)deficiency is a rare hereditary nonspherocytic hemolytic anemia caused by GPI gene variants.This disorder exhibits wide heterogeneity in its clinical manifestations and mole... Objective:Glucose-6-phosphate isomerase(GPI)deficiency is a rare hereditary nonspherocytic hemolytic anemia caused by GPI gene variants.This disorder exhibits wide heterogeneity in its clinical manifestations and molecular characteristics,often posing challenges for precise diagnoses using conventional methods.To this end,this study aimed to identify the novel variants responsible for GPI deficiency in a Chinese family.Methods:The clinical manifestations of the patient were summarized and analyzed for GPI deficiency phenotype diagnosis.Novel compound heterozygous variants of the GPI gene,c.174C>A(p.Asn58Lys)and c.1538G>T(p.Trp513Leu),were identified using whole-exome and Sanger sequencing.The AlphaFold program and Chimera software were used to analyze the effects of compound heterozygous variants on GPI structure.Results:By characterizing 53 GPI missense/nonsense variants from previous literature and two novel missense variants identified in this study,we found that most variants were located in exons 3,4,12,and 18,with a few localized in exons 8,9,and 14.This study identified novel compound heterozygous variants associated with GPI deficiency.These pathogenic variants disrupt hydrogen bonds formed by highly conserved GPI amino acids.Conclusion:Early family-based sequencing analyses,especially for patients with congenital anemia,can help increase diagnostic accuracy for GPI deficiency,improve child healthcare,and enable genetic counseling. 展开更多
关键词 glucose-6-phosphate isomerase deficiency whole-exome sequencing compound heterozygous variants genetic characterization hydrogen bond
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Recent Situation of Acupuncture and Moxibustion in the Treatment of Stomach Pain with Deficiency and Cold of Spleen and Stomach
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作者 Qiulu Nie 《Journal of Biosciences and Medicines》 2024年第4期60-68,共9页
Stomachache is one of the most common diseases of digestive system, among which stomach pain of deficiency cold of spleen and stomach is the most common. Acupuncture and moxibustion therapy as an external treatment of... Stomachache is one of the most common diseases of digestive system, among which stomach pain of deficiency cold of spleen and stomach is the most common. Acupuncture and moxibustion therapy as an external treatment of traditional Chinese medicine for relieving stomach pain due to deficiency of spleen and stomach, has the advantages of convenient operation, small adverse reactions and remarkable curative effect, which is easy for patients to accept. In this paper, acupuncture and moxibustion therapy such as moxibustion and warm acupuncture therapy for stomach pain of spleen and stomach deficiency cold type is summarized to provide evidence-based basis for clinical treatment of stomach pain of spleen and stomach deficiency cold type. 展开更多
关键词 Traditional Chinese Medicine STITCH Moxibustion Spleen and Stomach deficiency Cold Type Stomach Pain
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Alkaline sphingomyelinase deficiency impairs intestinal mucosal barrier integrity and reduces antioxidant capacity in dextran sulfate sodium-induced colitis
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作者 Ye Tian Xin Li +7 位作者 Xu Wang Si-Ting Pei Hong-Xin Pan Yu-Qi Cheng Yi-Chen Li Wen-Ting Cao Jin-Dong Ding Petersen Ping Zhang 《World Journal of Gastroenterology》 SCIE CAS 2024年第10期1405-1419,共15页
BACKGROUND Ulcerative colitis is a chronic inflammatory disease of the colon with an unknown etiology.Alkaline sphingomyelinase(alk-SMase)is specifically expressed by intestinal epithelial cells,and has been reported ... BACKGROUND Ulcerative colitis is a chronic inflammatory disease of the colon with an unknown etiology.Alkaline sphingomyelinase(alk-SMase)is specifically expressed by intestinal epithelial cells,and has been reported to play an anti-inflammatory role.However,the underlying mechanism is still unclear.AIM To explore the mechanism of alk-SMase anti-inflammatory effects on intestinal barrier function and oxidative stress in dextran sulfate sodium(DSS)-induced colitis.METHODS Mice were administered 3%DSS drinking water,and disease activity index was determined to evaluate the status of colitis.Intestinal permeability was evaluated by gavage administration of fluorescein isothiocyanate dextran,and bacterial translocation was evaluated by measuring serum lipopolysaccharide.Intestinal epithelial cell ultrastructure was observed by electron microscopy.Western blotting and quantitative real-time reverse transcription-polymerase chain reaction were used to detect the expression of intestinal barrier proteins and mRNA,respectively.Serum oxidant and antioxidant marker levels were analyzed using commercial kits to assess oxidative stress levels.RESULTS Compared to wild-type(WT)mice,inflammation and intestinal permeability in alk-SMase knockout(KO)mice were more severe beginning 4 d after DSS induction.The mRNA and protein levels of intestinal barrier proteins,including zonula occludens-1,occludin,claudin-3,claudin-5,claudin-8,mucin 2,and secretory immunoglobulin A,were significantly reduced on 4 d after DSS treatment.Ultrastructural observations revealed progressive damage to the tight junctions of intestinal epithelial cells.Furthermore,by day 4,mitochondria appeared swollen and degenerated.Additionally,compared to WT mice,serum malondialdehyde levels in KO mice were higher,and the antioxidant capacity was significantly lower.The expression of the transcription factor nuclear factor erythroid 2-related factor 2(Nrf2)in the colonic mucosal tissue of KO mice was significantly decreased after DSS treatment.mRNA levels of Nrf2-regulated downstream antioxidant enzymes were also decreased.Finally,colitis in KO mice could be effectively relieved by the injection of tertiary butylhydroquinone,which is an Nrf2 activator.CONCLUSION Alk-SMase regulates the stability of the intestinal mucosal barrier and enhances antioxidant activity through the Nrf2 signaling pathway. 展开更多
关键词 Alkaline sphingomyelinase Intestinal mucosal barrier Antioxidant capacity Dextran sulfate sodium-induced colitis nuclear factor erythroid 2-related factor 2
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Prevalence of vitamin D deficiency in exclusively breastfed infants at Charoenkrung Pracharak Hospital
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作者 Supawut Suksantilerd Rotchanart Thawatchai Nattapol Rungrojjananon 《World Journal of Clinical Pediatrics》 2024年第1期84-92,共9页
BACKGROUND Vitamin D deficiency is a common problem in exclusively breastfed infants,with supplementation recommended by various international medical organizations.However,in Thailand,no advice for routine vitamin D ... BACKGROUND Vitamin D deficiency is a common problem in exclusively breastfed infants,with supplementation recommended by various international medical organizations.However,in Thailand,no advice for routine vitamin D supplementation is available.Thus,this study investigated the prevalence of vitamin D deficiency and its associated factors in exclusively breastfed infants in Bangkok,Thailand.AIM To investigated the prevalence of vitamin D deficiency and its associated factors in exclusively breastfed infants in Bangkok,Thailand.METHODS This descriptive observational cross-sectional study assessed 1094-month-old infants at Charoenkrung Pracharak Hospital from May 2020 to April 2021.The 25-OH vitamin D level of the infants was measured using an electrochemiluminescence binding assay.Vitamin D deficiency was defined as 25-OH level<20 ng/mL,with vitamin D insufficiency 20-30 ng/mL.The sun index and maternal vitamin D supplementation data were collected and analyzed using the independent t-test,univariate logistic regression,and multivariate logistic regression to identify the associated factors.RESULTS The prevalences of vitamin D deficiency and vitamin D insufficiency were 35.78%and 33.03%,respectively with mean serum 25-OH vitamin D levels in these two groups 14.37±3.36 and 24.44±3.29 ng/mL.Multivariate logistic regression showed that the main factors associated with vitamin D status were maternal vitamin D supplementation and birth weight,with crude odds ratios 0.26(0.08–0.82)and 0.08(0.01–0.45),respectively.The sun index showed no correlation with the 25-OH vitamin D level in exclusively breastfed infants(r=−0.002,P=0.984).CONCLUSION Two-thirds of healthy exclusively breastfed infants had hypovitaminosis D.Vitamin D supplementation prevented this condition and was recommended for both lactating women and their babies. 展开更多
关键词 BREASTFEEDING SUNLIGHT Vitamin D deficiency Thailand
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3-Dimensional Kinematic Comparison of Arm Movements between an Individual with NGLY1 Deficiency and a Neurotypical Individual
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作者 Charles S. Layne Christopher A. Malaya +6 位作者 Brock Futrell Dacia Martinez Diaz Christian Alfaro Hannah E. Gustafson Subhalakshmi Chandrasekaran Rhea M. Phatak Bernhard Suter 《Case Reports in Clinical Medicine》 2024年第4期122-146,共25页
NGLY1 Deficiency is an ultra-rare autosomal recessively inherited disorder. Characteristic symptoms include among others, developmental delays, movement disorders, liver function abnormalities, seizures, and problems ... NGLY1 Deficiency is an ultra-rare autosomal recessively inherited disorder. Characteristic symptoms include among others, developmental delays, movement disorders, liver function abnormalities, seizures, and problems with tear formation. Movements are hyperkinetic and may include dysmetric, choreo-athetoid, myoclonic and dystonic movement elements. To date, there have been no quantitative reports describing arm movements of individuals with NGLY1 Deficiency. This report provides quantitative information about a series of arm movements performed by an individual with NGLY1 Deficiency and an aged-matched neurotypical participant. Three categories of arm movements were tested: 1) open ended reaches without specific end point targets;2) goal-directed reaches that included grasping an object;3) picking up small objects from a table placed in front of the participants. Arm movement kinematics were obtained with a camera-based motion analysis system and “initiation” and “maintenance” phases were identified for each movement. The combination of the two phases was labeled as a “complete” movement. Three-dimensional analysis techniques were used to quantify the movements and included hand trajectory pathlength, joint motion area, as well as hand trajectory and joint jerk cost. These techniques were required to fully characterize the movements because the NGLY1 individual was unable to perform movements only in the primary plane of progression instead producing motion across all three planes of movement. The individual with NGLY1 Deficiency was unable to pick up objects from a table or effectively complete movements requiring crossing the midline. The successfully completed movements were analyzed using the above techniques and the results of the two participants were compared statistically. Almost all comparisons revealed significant differences between the two participants, with a notable exception of the 3D initiation area as a percentage of the complete movement. The statistical tests of these measures revealed no significant differences between the two participants, possibly suggesting a common underlying motor control strategy. The 3D techniques used in this report effectively characterized arm movements of an individual with NGLY1 deficiency and can be used to provide information to evaluate the effectiveness of genetic, pharmacological, or physical rehabilitation therapies. 展开更多
关键词 NGLY1 deficiency Developmental Disorders KINEMATICS 3 Dimensional Analyses
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Clarifying the relationship and analyzing the influential factors of bronchial asthma in children with attention-deficit hyperactivity disorder
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作者 Gui-Xia Wang Xiao-Ying Xu Xi-Qing Wu 《World Journal of Psychiatry》 SCIE 2024年第4期513-522,共10页
BACKGROUND Bronchial asthma is closely related to the occurrence of attention-deficit hyperactivity disorder(ADHD)in children,which can easily have adverse effects on children’s learning and social interactions.Studi... BACKGROUND Bronchial asthma is closely related to the occurrence of attention-deficit hyperactivity disorder(ADHD)in children,which can easily have adverse effects on children’s learning and social interactions.Studies have shown that childhood asthma can increase the risk of ADHD and the core symptoms of ADHD.Compared with children with ADHD alone,children with asthma and ADHD are more likely to show high levels of hyperactivity,hyperactive-impulsive and other externalizing behaviors and anxiety in clinical practice and have more symptoms of somatization and emotional internalization.AIM To explore the relationship between ADHD in children and bronchial asthma and to analyze its influencing factors.METHODS This retrospective cohort study was conducted at Dongying People's Hospital from September 2018 to August 2023.Children diagnosed with ADHD at this hospital were selected as the ADHD group,while healthy children without ADHD who underwent physical examinations during the same period served as the control group.Clinical and parental data were collected for all participating children,and multivariate logistic regression analysis was employed to identify risk factors for comorbid asthma in children with ADHD.RESULTSSignificant differences were detected between the ADHD group and the control group in terms of family history ofasthma and allergic diseases, maternal complications during pregnancy, maternal use of asthma and allergymedications during pregnancy, maternal anxiety and depression during pregnancy, and parental relationshipstatus (P < 0.05). Out of the 183 children in the ADHD group, 25 had comorbid asthma, resulting in a comorbidityrate of 13.66% (25/183), compared to the comorbidity rate of 2.91% (16/549) among the 549 children in the controlgroup. The difference in the asthma comorbidity rate between the two groups was statistically significant (P <0.05). The results of the multivariate logistic regression analysis indicated that family history of asthma and allergicdiseases, maternal complications during pregnancy, maternal use of asthma and allergy medications duringpregnancy, maternal anxiety and depression during pregnancy, and parental relationship status are independentrisk factors increasing the risk of comorbid asthma in children with ADHD (P < 0.05).CONCLUSIONChildren with ADHD were more likely to have comorbid asthma than healthy control children were. A familyhistory of asthma, adverse maternal factors during pregnancy, and parental relationship status were identified asrisk factors influencing the comorbidity of asthma in children with ADHD. Clinically, targeted interventions basedon these factors can be implemented to reduce the risk of comorbid asthma. This information is relevant for resultssections of abstracts in scientific articles. 展开更多
关键词 Attention-deficit hyperactivity disorder Children Bronchial asthma Risk factors ANXIETY DEPRESSION
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Inpatient management of iron deficiency anemia in pediatric patients with inflammatory bowel disease: A single center experience
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作者 Krishanth Manokaran Jonathan Spaan +5 位作者 Giulio Cataldo Christopher Lyons Paul D Mitchell Tatyana Sare LoriA Zimmerman Paul A Rufo 《World Journal of Clinical Pediatrics》 2024年第1期107-117,共11页
BACKGROUND Screening for iron deficiency anemia(IDA)is important in managing pediatric patients with inflammatory bowel disease(IBD).Concerns related to adverse reactions may contribute to a reluctance to prescribe in... BACKGROUND Screening for iron deficiency anemia(IDA)is important in managing pediatric patients with inflammatory bowel disease(IBD).Concerns related to adverse reactions may contribute to a reluctance to prescribe intravenous(IV)iron to treat IDA in this population.AIM To track the efficacy and safety of IV iron therapy in treating IDA in pediatric IBD patients admitted to our center.METHODS A longitudinal observational cohort study was performed on 236 consecutive pediatric patients admitted to our tertiary IBD care center between September 2017 and December 2019.92 patients met study criteria for IDA,of which 57 received IV iron,17 received oral iron,and 18 were discharged prior to receiving iron therapy.RESULTS Patients treated with IV iron during their hospitalization experienced a significant increase of 1.9(±0.2)g/dL in mean(±SE)hemoglobin(Hb)concentration by the first ambulatory follow-up,compared to patients who received oral iron 0.8(±0.3)g/dL or no iron 0.8(±0.3)g/dL(P=0.03).One out of 57(1.8%)patients that received IV iron therapy experienced an adverse reaction.CONCLUSION Our findings demonstrate that treatment with IV iron therapy is safe and efficacious in improving Hb and iron levels in pediatric patients with IDA and active IBD. 展开更多
关键词 Iron deficiency anemia Pediatric inflammatory bowel disease Intravenous iron therapy Inflammatory bowel disease
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Observation on the Nursing Effect of Ginger Moxibustion on Gastrointestinal Symptoms in Patients with Heart Failure Due to Yang Qi Deficiency
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作者 Yijing Wang 《Journal of Clinical and Nursing Research》 2024年第6期135-141,共7页
Objective:To evaluate the nursing measures and effects of ginger moxibustion in the treatment of heart failure(yang qi deficiency type)with gastrointestinal symptoms.Methods:86 patients with heart failure(yang qi defi... Objective:To evaluate the nursing measures and effects of ginger moxibustion in the treatment of heart failure(yang qi deficiency type)with gastrointestinal symptoms.Methods:86 patients with heart failure(yang qi deficiency type)accompanied by gastrointestinal symptoms who were admitted to the hospital between January 2023 and January 2024 were selected and divided into 43 cases in each group by random number table grouping;Group I implemented integrated care,while Group II adopted conventional care.The indicators of care were compared between the two groups.Results:After the nursing care,the digestive symptom scores of Group I were lower than those of Group I,and the psychological scores were lower than those of Group II(P<0.05).Conclusion:Ginger moxibustion can improve gastrointestinal symptoms and enhance the psychological health of patients with heart failure(yang qi deficiency type)with gastrointestinal symptoms. 展开更多
关键词 Ginger moxibustion Yang qi deficiency Heart failure Gastrointestinal symptoms
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