Annals of clinical and laboratory science最新文献

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A Novel ACTB Truncating Variant in a Neonate with ACTB-Related Neurodevelopmental Disorder with Features Overlapping Baraitser-Winter Cerebrofrontofacial Syndrome Diagnosed Using Whole Genome Sequencing: A Case Report. 一种新的ACTB截断变异在新生儿ACTB相关神经发育障碍与特征重叠使用全基因组测序诊断Baraitser-Winter脑额面综合征:一个病例报告。
IF 1 4区 医学
Jin Ho Kim, Joonhong Park, Jin Kyu Kim, Hyun Ho Kim
{"title":"A Novel <i>ACTB</i> Truncating Variant in a Neonate with ACTB-Related Neurodevelopmental Disorder with Features Overlapping Baraitser-Winter Cerebrofrontofacial Syndrome Diagnosed Using Whole Genome Sequencing: A Case Report.","authors":"Jin Ho Kim, Joonhong Park, Jin Kyu Kim, Hyun Ho Kim","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>ACTB loss-of-function (LoF) variants cause a pleiotropic neurodevelopmental disorder with overlapping but distinct features compared to classic Baraitser-Winter cerebrofrontofacial syndrome (BW-CFFS), which is typically driven by gain-of-function missense variants. We report a neonate with an ACTB-related neurodevelopmental disorder harboring a novel truncating ACTB variant diagnosed via whole genome sequencing (WGS). The male infant, born at 38 weeks (2,160 g), exhibited a broad nasal bridge, epicanthic folds, and infraorbital creases, resembling his mother. Echocardiography revealed a ventricular septal defect and patent ductus arteriosus, while abdominal CT showed a horseshoe kidney. Despite normal karyotype and microarray results, WGS identified a heterozygous ACTB frameshift variant, c.952del (p.Thr318LeufsTer8), confirmed in the infant and mother by Sanger sequencing. The variant was absent in the maternal grandparents, indicating a <i>de novo</i> origin in the mother, and was transmitted to the proband with markedly variable expressivity. This case highlights WGS's utility in early diagnosis of multiple congenital anomalies caused by ACTB LoF variants, facilitating prompt intervention and accurate genetic counseling.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"56 1","pages":"107-113"},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147607514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Integrating Mendelian Randomization and Epithelial Barrier Assays Reveals Protective Effects of Acetate and Histidine Against Cholesterol Depletion-Induced Esophageal Dysfunction in GERD. 综合孟德尔随机化和上皮屏障试验揭示醋酸和组氨酸对胃食管反流中胆固醇消耗引起的食管功能障碍的保护作用。
IF 1 4区 医学
WeiLin Hu, Yan Ren, XiaoBing Yin, JinYu Qin, YuanHe Deng, JingE Xiao, LiMing Qiang
{"title":"Integrating Mendelian Randomization and Epithelial Barrier Assays Reveals Protective Effects of Acetate and Histidine Against Cholesterol Depletion-Induced Esophageal Dysfunction in GERD.","authors":"WeiLin Hu, Yan Ren, XiaoBing Yin, JinYu Qin, YuanHe Deng, JingE Xiao, LiMing Qiang","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to evaluate the causal relationship between serum biomarkers and gastroesophageal reflux disease (GERD) using Mendelian Randomization (MR) and validate key findings through in vitro functional assays.</p><p><strong>Methods: </strong>Genome-Wide Association Study (GWAS) data for GERD were sourced from the UK Biobank and QSkin Health Study, including 71,522 GERD cases and 261,079 controls from European populations. Serum biomarker data from 27 biomarkers were obtained from approximately 400,000 UK Biobank participants. MR analysis used inverse-variance weighted method as primary approach, complemented by MR-Egger and weighted median methods. For functional validation, human esophageal epithelial Het-1A cells were treated with methyl-β-cyclodextrin (MβCD) to deplete cholesterol, with or without acetate or histidine supplementation. Barrier function was assessed by transepithelial electrical resistance (TEER) and FITC-dextran permeability.</p><p><strong>Results: </strong>MR analysis revealed that increased acetate concentrations were associated with a 28% reduced risk of GERD (OR: 0.72, 95% CI: 0.56-0.92, <i>p</i>=0.0089). Histidine showed similar protective effects, reducing GERD risk by 15% (OR: 0.85, 95% CI: 0.72-1.00, <i>p</i>=0.047). Conversely, elevated Cystatin C levels were linked to a 32% increased GERD risk (OR: 1.32, 95% CI: 1.10-1.73, <i>p</i>=0.0105). <i>In vitro</i> validation demonstrated that MβCD-induced cholesterol depletion disrupted epithelial barrier function, reducing TEER by 30% and doubling FITC-dextran flux. Co-treatment with acetate or histidine partially rescued barrier integrity, restoring TEER to ~80% of baseline and reducing dextran permeability by ~35%. Western blotting confirmed that acetate and histidine prevented MβCD-induced loss of ZO-1 and suppressed NF-κB activation.</p><p><strong>Conclusion: </strong>Integrating MR with barrier-function assays demonstrates that genetically and experimentally reduced cholesterol disrupts esophageal epithelial integrity, whereas acetate and histidine confer measurable protection. These findings provide mechanistic insights into GERD pathogenesis and suggest potential therapeutic targets for patients with cholesterol-related barrier dysfunction.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"56 1","pages":"30-41"},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147607722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prognostic Markers for Early Mortality in Acute Mesenteric Ischemia. 急性肠系膜缺血早期死亡的预后指标。
IF 1 4区 医学
Medine Akkan Öz, Hüseyin Mutlu, Ramiz Yazıcı, Bensu Bulut, Ayşenur Gür, Yunus Yatmaz, Mehmet Yortanlı, Hakan Güner, Mustafa Sırrı Kotanoğlu, Zekeriya Uysal
{"title":"Prognostic Markers for Early Mortality in Acute Mesenteric Ischemia.","authors":"Medine Akkan Öz, Hüseyin Mutlu, Ramiz Yazıcı, Bensu Bulut, Ayşenur Gür, Yunus Yatmaz, Mehmet Yortanlı, Hakan Güner, Mustafa Sırrı Kotanoğlu, Zekeriya Uysal","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>Acute mesenteric ischemia (AMI) is a high-mortality vascular emergency caused by impaired intestinal perfusion due to embolic or thrombotic obstruction. Reliable biomarkers are needed for early diagnosis and prognostic evaluation. This study aimed to investigate the value of the lactate dehydrogenase/albumin ratio (LAR) in predicting 28-day mortality in AMI patients and to compare its prognostic performance with other inflammatory markers.</p><p><strong>Methods: </strong>This retrospective cohort study included 129 adult patients diagnosed with AMI by contrast-enhanced computed tomography angiography. Patients were divided into survivors and non-survivors according to 28-day outcomes. LAR, neutrophil/lymphocyte ratio (NLR), platelet/lymphocyte ratio (PLR), and CRP/albumin ratio (CAR) were calculated, and prognostic factors associated with mortality were analyzed.</p><p><strong>Results: </strong>34.1% of patients (n=44) died within 28 days. Mean age, LAR, lactate, NLR, and PLR were significantly higher in the mortality group (<i>p</i><0.001). In the ROC analysis, LAR had the highest discriminatory power in predicting 28-day mortality (AUC=0.820; 95% CI: 0.758-0.883; <i>p</i><0.001). The optimal threshold of 9.9 yielded 71.1% sensitivity and 90.9% specificity.</p><p><strong>Conclusion: </strong>LAR is a strong prognostic marker for 28-day mortality in AMI patients and may support risk stratification and treatment management using routine laboratory parameters.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"56 1","pages":"87-95"},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147607730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
METTL14 Promotes the Malignancy of Osteosarcoma by Mediating the m6A Methylation of ITGB3. METTL14通过介导ITGB3的m6A甲基化促进骨肉瘤的恶性化。
IF 1 4区 医学
Yacun Wan, Zhixiang Zhang, Zhongqiang Li, Juan Du
{"title":"METTL14 Promotes the Malignancy of Osteosarcoma by Mediating the m<sup>6</sup>A Methylation of ITGB3.","authors":"Yacun Wan, Zhixiang Zhang, Zhongqiang Li, Juan Du","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>Osteosarcoma (OS) is a malignant tumor originating from osteoblasts. Methyltransferase-like 14 (METTL14) is an N6-methyladenosine (m<sup>6</sup>A) methyltransferase that has been reported to promote OS progression; however, its underlying mechanism remains unclear.</p><p><strong>Methods: </strong>Gene Expression Omnibus (GEO), RNA modification base version 3.0 (RMbase V3.0), RNA modification variant database (RMvar), RNA modification disease database version 2.0 (RMDisease V2.0), sequence-based RNA adenosine methylation site predictor (SRAMP), the encyclopedia of RNA interactomes (ENCORI), and RNA binding protein map (RBPmap) were used to obtain gene expression and modification information related to OS. Reverse transcription quantitative polymerase chain reaction (RT-qPCR) and western blot (WB) were used to detect gene expression at the transcriptional and translational levels. Cell transfection was used to knock down or overexpress target genes. 3-(4,5-Dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) was used to measure cell viability. Flow cytometry was used to detect cell apoptosis. The Transwell assay was used to evaluate cell migration. Sphere formation assay assessed stemness characteristics. Tube formation assay evaluated angiogenic capability. RNA immunoprecipitation (RIP) was used to detect interactions between proteins and messenger RNA (mRNA).</p><p><strong>Results: </strong>METTL14 was highly expressed in OS-related cells. Knockdown of METTL14 reduced cell viability, increased apoptosis, and suppressed cell migration, stemness, and angiogenic capacity. In addition, METTL14 cooperated with insulin-like growth factor 2 mRNA-binding protein 1 (IGF2BP1) to mediate m<sup>6</sup>A methylation of integrin subunit beta 3 (ITGB3), thereby promoting the malignant behaviors of OS-related cells.</p><p><strong>Conclusion: </strong>METTL14 and IGF2BP1 mediate the m<sup>6</sup>A methylation of ITGB3, further promoting the deterioration of OS, providing new insights into the molecular mechanisms and potential therapeutic targets of OS.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"56 1","pages":"76-86"},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147607806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CD21 Immunostaining Can Identify Dendritic Cell Network of Tertiary Lymphoid Tissue in Transplant Renal Biopsies and Avoid Over-Diagnosing Borderline Changes. CD21免疫染色可以识别移植肾活检中三级淋巴组织的树突状细胞网络,避免过度诊断交界性改变。
IF 1 4区 医学
Brandon D Metcalf, Reenal Patel, Dilip Samarapungavan, Betty Y Ruan, Hassan D Kanaan, Olaf Kroneman, Krishna Putchakayala, Wei Li, Sarah T Suliman, Steven R Cohn, Atul Singh, Gabriel N Maine, Damanpreet Bedi, Ping L Zhang
{"title":"CD21 Immunostaining Can Identify Dendritic Cell Network of Tertiary Lymphoid Tissue in Transplant Renal Biopsies and Avoid Over-Diagnosing Borderline Changes.","authors":"Brandon D Metcalf, Reenal Patel, Dilip Samarapungavan, Betty Y Ruan, Hassan D Kanaan, Olaf Kroneman, Krishna Putchakayala, Wei Li, Sarah T Suliman, Steven R Cohn, Atul Singh, Gabriel N Maine, Damanpreet Bedi, Ping L Zhang","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>Tertiary lymphoid tissue (TLT) has been described as germinal center-like lymphoid structures composed of a dendritic network, mixed lymphocytes, and high endothelial venules in internal organs. A recent study indicates that TLT can be seen in up to 19% of protocol renal transplant biopsies. We hypothesize that CD21 staining can identify dendritic cells in TLT so that borderline changes are not overdiagnosed.</p><p><strong>Methods: </strong>CD21 immunostaining was initially used for identifying TLT in multiple internal organs as a quality control. Subsequently, 34 transplant renal biopsies (TRB) with borderline changes were reviewed and stained for CD21 to reveal the incidence of overdiagnosed borderline changes in our database. The second study was to further explore the presence of CD21 immunostaining in a set of 10 renal transplant biopsies from patients with serum donor-derived cell-free DNA (ddcfDNA).</p><p><strong>Results: </strong>Routine hematoxylin and eosin (H.E.) staining showed TLT with isolated germinal center-like structures and smooth-rounded borders. CD21 staining highlighted wavy dendritic cells forming a lacy-like network within TLT in quality control cases. Of 34 TRB with borderline changes, five cases were retrospectively found to have TLT on routine sections and CD21 staining highlighted the dendritic cell network, thus confirming the presence of TLT in the biopsies, indicating an incidence of overdiagnosed borderline changes at 14.7% (5/34). The true borderline changes showed infiltrative lymphocytes (< 25%) with mild tubulitis, in the absence of TLT. In the second study, only one case (1/10) showed positive CD21 staining, confirming the presence of TLT, but ruling out borderline changes.</p><p><strong>Conclusions: </strong>TLT represents reactive changes that should not be considered as cellular rejection or borderline changes. Immunohistochemical staining of CD21 is a more reliable method than morphology to confirm TLT, thus helping to rule out TLT in uncertain aggregates of lymphocytes in TRB.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"56 1","pages":"23-29"},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147607716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Extremely Low HbA1c Masking Glucose Intolerance in a Pregnant Woman with Autoimmune Hemolytic Anemia: A Case Report. 极低的HbA1c掩盖了自身免疫性溶血性贫血孕妇的葡萄糖耐受不良:1例报告
IF 1 4区 医学
Qi Zhang, Jia Mai, Xiakeerzhati Xiaohalati, Yingying Li, Ling Yang, Hongjian Xie
{"title":"Extremely Low HbA1c Masking Glucose Intolerance in a Pregnant Woman with Autoimmune Hemolytic Anemia: A Case Report.","authors":"Qi Zhang, Jia Mai, Xiakeerzhati Xiaohalati, Yingying Li, Ling Yang, Hongjian Xie","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>Hemoglobin A1c (HbA1c) is unreliable in conditions shortening red blood cell (RBC) lifespan, such as autoimmune hemolytic anemia (AIHA). We report a rare case of extremely low HbA1c masking glucose intolerance in a pregnant woman.</p><p><strong>Case report: </strong>A 34-year-old woman at 20+2 weeks' gestation had HbA1c 2.02% (reference: 4.0-5.7%). A 75g Oral Glucose Tolerance Test (OGTT) confirmed gestational diabetes mellitus (GDM). Investigations revealed mild anemia, elevated reticulocytes, spherocytes, and positive IgG direct antiglobulin test (DAT), confirming AIHA. Both conditions were managed successfully; postpartum OGTT showed impaired glucose tolerance.</p><p><strong>Conclusion: </strong>AIHA-induced shortening of the RBC lifespan causes falsely low HbA1c. We suggest that an HbA1c level < 4.0% in pregnancy should serve as a clinical \"red flag,\" necessitating immediate 75g OGTT and a comprehensive hematologic workup (e.g., CBC and DAT) to prevent the masking of GDM and ensure optimal maternal-fetal outcomes.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"56 1","pages":"114-117"},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147607767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Impact and Correlation of Epstein-Barr Virus Infection on Disease Activity of Systemic Lupus Erythematosus. eb病毒感染对系统性红斑狼疮疾病活动性的影响及相关性研究。
IF 1 4区 医学
Mengqi Ruan, Liping Li, Zhi Duan, Qin Xu, Hao Zhang, Qin Wang, Jingjing Zhang
{"title":"The Impact and Correlation of Epstein-Barr Virus Infection on Disease Activity of Systemic Lupus Erythematosus.","authors":"Mengqi Ruan, Liping Li, Zhi Duan, Qin Xu, Hao Zhang, Qin Wang, Jingjing Zhang","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the effect of Epstein-Barr virus (EBV) infection on immunological and biochemical parameters in patients with systemic lupus erythematosus (SLE) and its disease activity.</p><p><strong>Methods: </strong>Patients were categorized into mild-moderate (n=64, SLE DAI ≤6 and 7~12) and severe (n=36, SLE DAI >12) groups based on the SLE Disease Activity Index (SLE DAI). Clinical data and immunological indices of SLE patients were retrospectively analyzed and compared between the two groups. Pearson's correlation analysis was performed to analyze the relationship between EBV DNA load and complement 3 (C3) level and between ESR and SLE DAI score in SLE patients.</p><p><strong>Results: </strong>It was shown that the EBV DNA, CD4+/CD8+ ratio, and ESR in mild-moderate group were significantly lower than in severe group, but the frequency of CD8+ T cells and C3 level in mild-moderate group was higher than that in severe group. Multifactorial logistic regression analysis showed that elevated EBV DNA level was an independent predictor of disease activity in SLE (P<0.001, OR=6.106). Correlation analysis showed EBV DNA load was negatively correlated with C3 level (r=-0.6213, <i>P</i><0.001), but positively correlated with ESR (r=0.6257, <i>P</i><0.001) and SLE DAI score (r=0.8518, <i>P</i><0.001) in SLE patients.</p><p><strong>Conclusion: </strong>SLE disease activity was associated with patients' EBV DNA load, CD8+ T-cell ratio, complement C3, and ESR. Furthermore, elevated EBV DNA load is an independent influence on disease activity in SLE.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"56 1","pages":"60-65"},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147607815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Asiaticoside Alleviates Alzheimer's Disease by Regulating PPP1CC Expression to Suppress Inflammation and Mitochondrial Dysfunction. 积雪草苷通过调节PPP1CC表达抑制炎症和线粒体功能障碍减轻阿尔茨海默病
IF 1 4区 医学
Pengfei Zhang, Jiangtao Xie, Liang Liu, Yu Zheng, Ye Yang
{"title":"Asiaticoside Alleviates Alzheimer's Disease by Regulating PPP1CC Expression to Suppress Inflammation and Mitochondrial Dysfunction.","authors":"Pengfei Zhang, Jiangtao Xie, Liang Liu, Yu Zheng, Ye Yang","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>Alzheimer's disease (AD) is a neurodegenerative disorder. Asiaticoside (AS), one of the main active components of Centella asiatica, shows therapeutic potential in various diseases, including AD. However, the specific molecular mechanisms by which AS treats AD remain unclear.</p><p><strong>Methods: </strong>Cell counting kit-8 (CCK-8) and flow cytometry were used to assess cell viability, apoptosis, and changes in JC-1 mitochondrial membrane potential. Western blot (WB) was used to detect protein expression. The ferrous ion fluorescence assay kit was used to measure Fe<sup>2+</sup> levels. Enzyme-linked immunosorbent assay (ELISA) kits were used to detect interleukin-1β (IL-1β) and IL-6 levels. GeneCards, comparative toxicogenomics database (CTD), and swisstargetprediction databases were used to obtain AD and AS targets. Enrichment analysis and plotting were performed using the clusterProfiler package in R. The simplified molecular input line entry system (SMILES) website was used to obtain the 3D structure of AS. The universal protein resource (UniProt) website was used to obtain the protein structure of protein phosphatase 1 catalytic subunit gamma (PPP1CC). Autodock v4.2.6 was used for molecular docking.</p><p><strong>Results: </strong>AS improved cell viability in amyloid β<sub>1-42</sub> (Aβ<sub>1-42</sub>)-induced human brain microvascular endothelial cells (HBMECs), reduced apoptosis, reduced Fe<sup>2+</sup>, IL-1β, and IL-6 levels, restored the JC-1 mitochondrial membrane potential, and increased the expression of glutathione peroxidase 4 (GPX4) and solute carrier family 7 member 11 (SLC7A11). Analysis identified six overlapping genes between AS and AD. Gene ontology (GO) functional annotation of these genes showed significant enrichment in response to hypoxia, neuron differentiation, and mitochondrial function. Kyoto encyclopedia of genes and genomes (KEGG) enrichment analysis revealed significant enrichment in tumor necrosis factor (TNF) signaling pathway, IL-17 signaling pathway, and others. Molecular docking demonstrated that AS could stably bind to the PPP1CC protein. Further experiments showed that PPP1CC knockdown exerted regulatory effects on Aβ<sub>1-42</sub>-induced HBMECs similar to those exerted by AS, whereas PPP1CC overexpression produced the opposite effects.</p><p><strong>Conclusion: </strong>AS protects Aβ<sub>1-42</sub>-induced HBMECs, likely through modulating PPP1CC expression.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"56 1","pages":"51-59"},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147607573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comparison of Complement Receptor Markers C5aR (CD88) and C3aR on Lymphocyte and Monocyte Subpopulations in Peripheral Blood of Serum IgE Positive and Negative Asthmatic Adults. 补体受体标志物C5aR (CD88)和C3aR对IgE阳性和阴性哮喘成人外周血淋巴细胞和单核细胞亚群的影响
IF 1 4区 医学
Tamar A Smith-Norowitz, Esther M Norowitz, Haram Abdelmajid, Stephan Kohlhoff, Rauno Joks
{"title":"Comparison of Complement Receptor Markers C5aR (CD88) and C3aR on Lymphocyte and Monocyte Subpopulations in Peripheral Blood of Serum IgE Positive and Negative Asthmatic Adults.","authors":"Tamar A Smith-Norowitz, Esther M Norowitz, Haram Abdelmajid, Stephan Kohlhoff, Rauno Joks","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>C5a and C3a are complement split products (CSPs) and potent anaphylatoxins which are formed through enzymatic cleavage by pollen and dust mite allergens and mast cell tryptase. Previous studies in our laboratory reported that levels of plasma C5a desArg of outpatient adults with asthma correlated with asthma severity and QOL (quality of life) scores. While increased plasma C5a or C5aR+ lymphocytes may mediate increases in serum immunoglobulin (Ig)E, the role of C3aR is unknown. This study sought to evaluate levels of C5aR and C3aR on lymphocytes and monocytes in serum IgE positive (+) and negative (-) adults with asthma.</p><p><strong>Methods: </strong>Blood was obtained from adults with asthma exacerbation (N=24, 16 females, eight males) who required emergency department (ED) treatment. Distributions of lymphocyte (CD3, CD4, CD8, C5aR (CD88), C3aR), monocyte subsets (CD14, C5aR (CD88), C3aR), and serum IgE levels were determined (flow microfluorimetry, fluoro-enzyme immunoassay).</p><p><strong>Results: </strong>In this cohort, serum IgE levels were elevated (908 IU/mL±1209). When subjects were stratified according to serum IgE status, numbers of C3aR+ cells on lymphocytes were higher in serum IgE+ compared with serum IgE- subjects (46.6±5.6, 39.60±7.9; <i>P</i>=0.05). Numbers of CD5aR+ cells on lymphocytes were similar in both groups.</p><p><strong>Conclusions: </strong>The results suggest that C3aR+ lymphocytes may play a role in allergic disease in adults with asthma and elevated serum IgE levels.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"56 1","pages":"6-9"},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147607687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Commentary Note: Do We still Need Liquid Chromatography Combined with Mass Spectrometry for Therapeutic Drug Monitoring of Tacrolimus? 评论注:我们还需要液相色谱联用质谱法监测他克莫司的治疗药物吗?
IF 1 4区 医学
Tracy Kisler, Melody Nelson, Amitava Dasgupta
{"title":"<i>Commentary Note:</i> Do We still Need Liquid Chromatography Combined with Mass Spectrometry for Therapeutic Drug Monitoring of Tacrolimus?","authors":"Tracy Kisler, Melody Nelson, Amitava Dasgupta","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>In our laboratory, chemiluminescent microparticle immunoassay (CMIA) of tacrolimus on the Alinity i was implemented in February 2023 with an option for physicians to request liquid chromatography combined with mass spectrometry (LC-MS/MS) analysis to confirm the level of the immunoassay result.</p><p><strong>Methods: </strong>CMIA tacrolimus was performed on the Alinity i analyzer and the result was reported within 4h. However, if a physician requested LC-MS/MS analysis, the same whole blood specimen was sent to the reference laboratory, where the result was available within 24h. We then compared the LC-MS/MS value with the initial immunoassay result, which was performed in the same specimen.</p><p><strong>Results: </strong>From February 2, 2023, till November 18<sup>th</sup>, 2025, 51,833 tacrolimus tests were ordered in our laboratory. Out of all these specimens only 795 specimens (1.53%) were sent to the reference laboratory for further analysis by LC-MS/MS as requested by ordering physicians. In the majority of specimens (634 out of 795, 79.7%) difference between immunoassay and LC-MS/MS was less than 20%. However, 27 specimens (3.4%) showed positive bias over 30% with a highest bias of 76.7%.</p><p><strong>Conclusion: </strong>LC-MS/MS is still needed for therapeutic drug monitoring of tacrolimus.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"56 1","pages":"130-132"},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147607429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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