Archives of Medical Research最新文献

{"title":"Evaluating a Novel Newborn Screening Methodology: Combined Genetic and Biochemical Screenings","authors":"Bin Yu ,&nbsp;Yuqi Yang ,&nbsp;Lingna Zhou ,&nbsp;Qiuwei Wang","doi":"10.1016/j.arcmed.2024.102959","DOIUrl":"10.1016/j.arcmed.2024.102959","url":null,"abstract":"<div><h3>Purpose</h3><p>Analysis of four newborn screening<span><span> modes using newborn </span>genomic sequencing (nGS) and traditional biochemical screening (TBS).</span></p></div><div><h3>Methods</h3><p>Prospective clinical study with a total of 1,012 newborn samples from retrospective TBS. Three independent groups performed the study under strict double-blind conditions according to the screening modes: independent biochemical (IBS), independent NeoSeq (INS), sequential (SS), and combined (CS) screening. Using targeted sequencing, the NeoSeq panel included 154 pathogenic genes covering 86 diseases.</p></div><div><h3>Results</h3><p>Of the 1,012 newborns, 120 were diagnosed were diagnosed with genetic diseases Among them, 52 cases were within the scope of TBS and 68 additional cases were identified through nGS. The number of cases detected per screening mode was 50, 113, 56, and 119 for IBS, INS, SS, and CS, respectively. CS was the most satisfactory screening mode, with the detection rate of 99.17%, the specificity and positive predictive value of 100%, and the negative predictive value of 99.89%. In addition, of the 68 cases identified by nGS (96 variants in 31 pathogenic genes), only four participants (5.9%) had clinical manifestations consistent with the disease. The experimental reporting cycles of CS and INS were the shortest.</p></div><div><h3>Conclusions</h3><p>CS was the most satisfactory method for newborn screening, which combined nGS with TBS to improve early diagnosis.</p></div>","PeriodicalId":8318,"journal":{"name":"Archives of Medical Research","volume":null,"pages":null},"PeriodicalIF":7.7,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139645465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CETP-derived Peptide Seq-1, the Key Component of HB-ATV-8 Vaccine Prevents Stress Responses, and Promotes Downregulation of Pro-Fibrotic Genes in Hepatocytes and Stellate Cells","authors":"Sandra Calixto-Tlacomulco ,&nbsp;Ismael Luna-Reyes ,&nbsp;Blanca Delgado-Coello ,&nbsp;Roxana Gutiérrez-Vidal ,&nbsp;Juan Pablo Reyes-Grajeda ,&nbsp;Jaime Mas-Oliva","doi":"10.1016/j.arcmed.2023.102937","DOIUrl":"10.1016/j.arcmed.2023.102937","url":null,"abstract":"<div><h3>Background</h3><p>The nasal vaccine HB-ATV-8 has emerged as a promising approach for NAFLD (non-alcoholic fatty liver disease) and atherosclerosis prevention. HB-ATV-8 contains peptide seq-1 derived from the carboxy-end of the Cholesteryl Ester Transfer Protein (CETP), shown to reduce liver fibrosis, inflammation, and atherosclerotic plaque formation in animal models. Beyond the fact that this vaccine induces B-cell lymphocytes to code for antibodies against the seq-1 sequence, inhibiting CETP's cholesterol transfer activity, we have hypothesized that beyond the modulation of CETP activity carried out by neutralizing antibodies, the observed molecular effects may also correspond to the direct action of peptide seq-1 on diverse cellular systems and molecular features involved in the development of liver fibrosis.</p></div><div><h3>Methods</h3><p>The HepG2 hepatoma-derived cell line was employed to establish an <em>in vitro</em> steatosis model. To obtain a conditioned cell medium to be used with hepatic stellate cell (HSC) cultures, HepG2 cells were exposed to fatty acids or fatty acids plus peptide seq-1, and the culture medium was collected. Gene regulation of COL1A1, ACTA2, TGF-β, and the expression of proteins COL1A1, MMP-2, and TIMP-2 were studied.</p></div><div><h3>Aim</h3><p>To establish an <em>in vitro</em> steatosis model employing HepG2 cells that mimics molecular processes observed <em>in vivo</em> during the onset of liver fibrosis. To evaluate the effect of peptide Seq-1 on lipid accumulation and pro-fibrotic responses. To study the effect of Seq-1-treated steatotic HepG2 cell supernatants on lipid accumulation, oxidative stress, and pro-fibrotic responses in HSC.</p></div><div><h3>Results and Conclusion</h3><p>Peptide seq-1-treated HepG2 cells show a downregulation of <em>COLIA1, ACTA2</em>, and <em>TGF-β</em> genes, and a decreased expression of proteins such as COL1A1, MMP-2, and TIMP-2, associated with the remodeling of extracellular matrix components. The same results are observed when HSCs are incubated with peptide Seq-1-treated steatotic HepG2 cell supernatants. The present study consolidates the nasal vaccine HB-ATV-8 as a new prospect in the treatment of NASH directly associated with the development of cardiovascular disease.</p></div>","PeriodicalId":8318,"journal":{"name":"Archives of Medical Research","volume":null,"pages":null},"PeriodicalIF":7.7,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0188440923001807/pdfft?md5=87256654d9a752b2f1d6ddb4a88b3dbb&pid=1-s2.0-S0188440923001807-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139658524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Human Intestinal Defensin 5 Ameliorates the Sensitization of Colonic Cancer Cells to 5-Fluorouracil","authors":"Anshul Panjeta ,&nbsp;Khushpreet Kaur ,&nbsp;Rinkle Sharma ,&nbsp;Indu Verma ,&nbsp;Simran Preet","doi":"10.1016/j.arcmed.2024.102966","DOIUrl":"10.1016/j.arcmed.2024.102966","url":null,"abstract":"<div><h3>Background and Aim</h3><p>The increasing dilemma of multidrug-resistant cancer cells in response to currently available chemotherapeutic drugs and their associated side effect(s), calls for the investigation of alternative anticancer advances and molecules. Therefore, the present study aimed to elucidate the combinatorial potential against colon cancer of human defensin 5 in combination with 5-fluorouracil (5-FU), and against 5-FU resistant colon tumor cells.</p></div><div><h3>Methods</h3><p>The <em>in vivo</em> combinatorial potential of HD-5 with 5-FU was elucidated in terms of tumor morphometrics, apoptosis assay, surface morphology histology of the colon(s), and transcriptional alterations. Changes in membrane dynamics with mucin expression were evaluated by fluorescence microscopy and histochemistry. The <em>in vitro</em> activity of the peptide/drug conjunction was explored by phase contrast microscopy, MTT, LDH assay, and AO/EtBr staining. Chemoresistance to 5-FU was determined by phase contrast microscopy, MTT assay, annexin V-FITC/PI flow cytometry, and MDR-1, Bak, and Bax expression.</p></div><div><h3>Results</h3><p><em>In vivo</em> decreases in tumor parameters, with a marked increase in apoptosis and neutrophil infiltrations indicated restoration of normal architecture with improved mucin content in the treated colons. This happened with substantial changes in key molecular markers of the intrinsic apoptotic cascade. Membrane dynamics revealed that peptides and chemotherapeutic drugs could bind to cancerous cells by taking advantage of altered levels of membrane fluidity.</p></div><div><h3>Conclusion</h3><p>Peptide treatment of drug-resistant Caco-2 cells promotes enhanced 5-FU uptake, in contrast to when cells were treated with 5-FU alone. Hence, HD-5 as an adjunct to 5-FU, exhibited strong cancer cell killing even against 5-FU-resistant tumorigenic cells.</p></div>","PeriodicalId":8318,"journal":{"name":"Archives of Medical Research","volume":null,"pages":null},"PeriodicalIF":7.7,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139708737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of Fibrate Treatment on Circulating Adipokine Levels: A Systematic Review and Meta-analysis of Randomized Clinical Trials","authors":"Luis E. Simental-Mendía ,&nbsp;Mario Simental-Mendía ,&nbsp;Amirhossein Sahebkar ,&nbsp;Stephen L. Atkin ,&nbsp;Tannaz Jamialahmadi","doi":"10.1016/j.arcmed.2024.102957","DOIUrl":"10.1016/j.arcmed.2024.102957","url":null,"abstract":"<div><h3>Background</h3><p><span><span>Fibrates are widely used in the treatment of </span>dyslipidemia<span> and associated metabolic abnormalities; however, their effects on adipokines are unclear. Aim of the study. This meta-analysis of </span></span>clinical trials aimed to evaluate the effect of fibrates on circulating adipokine levels.</p></div><div><h3>Methods</h3><p>Only randomized controlled trials investigating the impact/effect of fibrate treatment on circulating adipokine levels were included from searches in PubMed-Medline, SCOPUS, ClinicalTrials.gov, Web of Science, and Google Scholar databases. A random effects model and the generic inverse variance method were used for the meta-analysis. Sensitivity analysis was conducted using the leave-one-out method.</p></div><div><h3>Results</h3><p>This meta-analysis of 22 clinical trials showed a significant reduction on/in leptin (WMD: –1.58 ng/mL, 95% CI: –2.96, –0.20, <em>p</em> = 0.02, <em>I²</em> = 0%), plasminogen activator inhibitor-1 (PAI-1) (WMD: –13.86 ng/mL, 95% CI: –26.70, –1.03, <em>p</em> = 0.03, <em>I²</em><span> = 99%), and visfatin (WMD: –1.52 ng/mL, 95% CI: –2.49, –0.56, </span><em>p</em> = 0.002, <em>I²</em><span> = 0%) after fibrate therapy; no significant effect was observed on adiponectin (WMD: –0.69 µg/ml, 95% CI: –1.40, 0.02, </span><em>p</em> = 0.06, <em>I²</em><span> = 83%) and resistin (WMD: –2.27 ng/mL, 95% CI: –7.11, 2.57, </span><em>p</em> = 0.36, <em>I²</em> = 0%). The sensitivity analysis was robust only for visfatin, while the effect size was sensitive to one arm for leptin, four for adiponectin, and two for PAI-1.</p></div><div><h3>Conclusion</h3><p>This meta-analysis showed that fibrate treatment significantly improves adipokine levels with a decrease in leptin, PAI-1, and visfatin, suggesting potential additional clinical therapeutic benefits through/of fibrate treatment on adipose tissue.</p></div>","PeriodicalId":8318,"journal":{"name":"Archives of Medical Research","volume":null,"pages":null},"PeriodicalIF":7.7,"publicationDate":"2024-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139547756","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Traumatic Human Spinal Cord Injury: Are Single Treatments Enough to Solve the Problem?","authors":"Israel Grijalva-Otero ,&nbsp;Ernesto Doncel-Pérez","doi":"10.1016/j.arcmed.2023.102935","DOIUrl":"10.1016/j.arcmed.2023.102935","url":null,"abstract":"<div><p><span>Traumatic spinal cord injury<span> (SCI) results in partial or complete motor deficits, such as paraplegia, tetraplegia, and sphincter control, as well as sensory disturbances and autonomic dysregulation such as arterial hypotension, lack of sweating, and alterations in skin lability. All this has a strong psychological impact on the affected person and his/her family, as well as costs to healthcare institutions with an economic burden in the short, medium, and long terms. Despite at least forty years of experimental animal studies and several </span></span>clinical trials<span><span> with different therapeutic strategies, effective therapy is not universally accepted. Most of the published works on acute and chronic injury use a single treatment, such as medication, </span>trophic factor<span>, transplant of a cell type, and so on, to block some secondary injury mechanisms or promote some mechanisms of structural/functional restoration. However, despite significant results in experimental models, the outcome is a moderate improvement in muscle strength, sensation, or eventually in sphincter control, which has been considered non-significant in human clinical trials. Here we present a brief compilation of successful individual treatments that have been applied to secondary mechanisms of action. These studies show limited neuroprotective or neurorestorative approaches in animal models and clinical trials. Thus, the few benefits achieved so far represent a rationale to further explore other strategies that seek better structural and functional restoration of the injured spinal cord.</span></span></p></div>","PeriodicalId":8318,"journal":{"name":"Archives of Medical Research","volume":null,"pages":null},"PeriodicalIF":7.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139066156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expression of EPB41L2 in Cancer-Associated Fibroblasts: Prognostic Implications for Bladder Cancer and Response to Immunotherapy","authors":"Tianqi Wang ,&nbsp;Guixin Ding ,&nbsp;Xiaoyu Wang ,&nbsp;Yuanshan Cui ,&nbsp;Xiaohong Ma ,&nbsp;Jian Ma ,&nbsp;Jitao Wu","doi":"10.1016/j.arcmed.2023.102927","DOIUrl":"10.1016/j.arcmed.2023.102927","url":null,"abstract":"<div><h3>Background</h3><p><span><span>Immunotherapy response </span>in patients with </span>bladder cancer<span><span><span> (BLCA) treated with immune checkpoint inhibitors (ICIs) is variable. The accurate evaluation of immunotherapy efficacy may be facilitated by the </span>tumor microenvironment (TME). </span>Erythrocyte membrane protein band 4.1<span> like 2 (EPB41L2), a cytoskeletal protein with a regulatory role in the TME was intensively investigated to determine its biological characterization, clinical relevance, and predictive value for immunotherapy in BLCA.</span></span></p></div><div><h3>Methods</h3><p><span>Comprehensive bioinformatics and statistical analyses were conducted to examine gene expression profile, TME components, immune contexture, molecular features, and prediction of immunotherapy response. Immunohistochemistry (IHC) validated the results of the bioinformatics analysis. Association between immune checkpoint genes (ICGs) and EPB41L2-based </span>risk stratification was validated in the IMvigor210 cohort, and their association with ICI response was assessed.</p></div><div><h3>Results</h3><p><span>EPB41L2 mRNA levels were decreased in BLCA compared to normal tissue. IHC showed reduced EPB41L2 staining intensity in early BLCA tissue. Nevertheless, elevated EPB41L2 expression was observed in cancer-associated fibroblasts (CAFs) with higher histological grade and pathological stage. High EPB41L2 expression served as a poor prognostic factor for BLCA. Single-cell RNA-seq and further analyses revealed that EPB41L2 was mainly expressed in CAFs and promoted TME remodeling. EPB41L2</span>^low/ICGs^high<span><span> patients showed greater benefit from immunotherapy. Gene mutation analysis revealed a close relationship between EPB41L2 and the frequency of oncogenic mutations, including TP53 and </span>FGFR3.</span></p></div><div><h3>Conclusion</h3><p>Comprehensive analysis and IHC confirmed the upregulation of EPB41L2 in BLCA CAFs and its association with TME remodeling. EPB41L2 and ICG expression were identified as combinatorial biomarkers to predict the response to immunotherapy.</p></div>","PeriodicalId":8318,"journal":{"name":"Archives of Medical Research","volume":null,"pages":null},"PeriodicalIF":7.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139057284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reviewers list","authors":"","doi":"10.1016/S0188-4409(23)00188-1","DOIUrl":"https://doi.org/10.1016/S0188-4409(23)00188-1","url":null,"abstract":"","PeriodicalId":8318,"journal":{"name":"Archives of Medical Research","volume":null,"pages":null},"PeriodicalIF":7.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139549790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spanish adaptation and validation of the ALS Depression Inventory-12 (ADI-12) in patients with Amyotrophic Lateral Sclerosis","authors":"David Sancho-Cantus ,&nbsp;Laura Cubero-Plazas ,&nbsp;Jesús Privado ,&nbsp;Eduardo Jesús Aguilar García-Iturrospe ,&nbsp;Montserrat Cañabate Ros ,&nbsp;Esther Navarro-Illana ,&nbsp;José Enrique de la Rubia Ortí","doi":"10.1016/j.arcmed.2023.102936","DOIUrl":"10.1016/j.arcmed.2023.102936","url":null,"abstract":"<div><h3>Background</h3><p><span>Patients with Amyotrophic Lateral Sclerosis<span> (ALS) have a higher prevalence of mood disorders, including depression, than the general population. Non-specific measurement instruments have been used to evaluate depression in these patients, which complicates accurate diagnosis. The ALS Depression Inventory (ADI-12) exclusively assesses depressive symptoms </span></span>in patients with ALS.</p></div><div><h3>Aim</h3><p>To adapt and validate the ADI-12 in a Spanish sample.</p></div><div><h3>Methods</h3><p>A selective design was used with 74 patients with ALS, using the ADI-12 questionnaire. The original instrument was translated and back-translated into Spanish. The internal structure, temporal stability, convergent, and discriminant validity of the instrument were analyzed.</p></div><div><h3>Results</h3><p>Two confirmatory models showed internal validity (p = 0.502 for the one-factor model, p = 0.507 for the two-factor model). The Cronbach's alpha (0.900 in the first measurement and 0.889 in the second one) indicated a high internal consistency of the test. The Pearson correlation (0.90) indicated high temporal stability. In terms of convergent validity, the ADI-12 showed moderate correlations with the Beck Anxiety Inventory (BAI) (0.51–0.58), and low correlations with time since ALS diagnosis (–0.26 to –0.27).</p></div><div><h3>Limitations</h3><p>The main limitation of the present study was the small sample size.</p></div><div><h3>Conclusions</h3><p>The ADI-12 is fitted to a single general factor of depression, and the scale shows high internal consistency and high temporal stability, therefore, its use is recommended for the diagnosis of depression in patients with ALS.</p></div>","PeriodicalId":8318,"journal":{"name":"Archives of Medical Research","volume":null,"pages":null},"PeriodicalIF":7.7,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139028002","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multidisciplinary Panel Consensus for the Management of Patients with Type 2 Diabetes: A Delphi Study","authors":"Ana M. Cebrián-Cuenca ,&nbsp;Oscar Moreno-Pérez ,&nbsp;Raquel Campuzano-Ruiz ,&nbsp;Maria Jose Soler ,&nbsp;M. Dolores García de Lucas ,&nbsp;Domingo Orozco-Beltrán","doi":"10.1016/j.arcmed.2023.102923","DOIUrl":"10.1016/j.arcmed.2023.102923","url":null,"abstract":"<div><h3>Aim</h3><p><span><span><span>To reach a multidisciplinary consensus on managing patients with type 2 diabetes among specialists in family medicine, </span>cardiology, </span>endocrinology, </span>internal medicine<span>, and nephrology.</span></p></div><div><h3>Methods</h3><p>A two-round Delphi study was conducted using a questionnaire with 68 positive/negative statements distributed in four thematic blocks on diabetes management: early diagnosis and prediabetes<span>, referral criteria, treatment and comorbidities, and clinical management. The expert panel was composed of 105 physicians from different specialties (family medicine, cardiology, endocrinology, internal medicine, and nephrology) with experience in managing patients with diabetes and who were members of a diabetes-related society.</span></p></div><div><h3>Results</h3><p>Response rates for the first and second rounds were 86.7 and 75.2%, respectively. After both rounds, a consensus was reached on 52 (76.5%) items. The recommendations with the highest degree of consensus (median = 10, IQR = 0.00) were related to anti-smoking education, cardiovascular risk factor target control, and diabetic kidney disease. There were significant differences between family physicians and other specialties for some items.</p></div><div><h3>Conclusions</h3><p>This study provides a set of recommendations for diabetes management agreed upon by specialists from different healthcare settings.</p></div>","PeriodicalId":8318,"journal":{"name":"Archives of Medical Research","volume":null,"pages":null},"PeriodicalIF":7.7,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139028167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factor XII Deficiency in Mexico: High Prevalence in the General Population and Patients with Venous Thromboembolic Disease","authors":"Víctor Manuel Dominguez-Reyes ,&nbsp;Jesus Hernandez-Juarez ,&nbsp;Rodrigo Arreola-Diaz ,&nbsp;Karim Majluf-Cruz ,&nbsp;Elba Reyes-Maldonado ,&nbsp;José Antonio Alvarado-Moreno ,&nbsp;Luis Antonio Moreno Ruiz ,&nbsp;Abraham Majluf-Cruz","doi":"10.1016/j.arcmed.2023.102913","DOIUrl":"https://doi.org/10.1016/j.arcmed.2023.102913","url":null,"abstract":"<div><h3>Introduction</h3><p>Thrombosis is one of the leading causes of morbidity and mortality worldwide. Venous thromboembolic disease (VTD) is considered a new epidemic. FXII<span> deficiency is supposed to be a cause of thrombosis. To search for unknown causes of thrombosis in our population, our aim was to determine if FXII deficiency can be considered a risk factor for VTD.</span></p></div><div><h3>Methods</h3><p>Young adult Mexican patients with at least one VTD episode and healthy controls were included in this prospective, observational, controlled study. Liver and renal function tests, blood cytometry<span>, and blood coagulation assays were performed. Plasma FXII activity and its concentration were evaluated.</span></p></div><div><h3>Results</h3><p>Over a two-year period, 250 patients and 250 controls were included. FXII activity was significantly lower in the control group compared to patients with VTD (<em>p</em> = 0.005). However, percentage of patients and controls with FXII deficiency was 8.8 and 9.2%, respectively (<em>p</em> = 1.000). No significant association was found between FXII deficiency and VTD (<em>p</em> = 1.0). FXII plasma concentration was lower in controls vs. patients with VTD: 4.05 vs. 6.19 ng/mL (<em>p</em><span> &lt;0.001). Percentage of patients with low FXII plasma concentration was 1.6% and 6.0% in patients and controls, respectively (</span><em>p</em> = 0.010).</p></div><div><h3>Conclusions</h3><p>FXII deficiency is a frequent finding in patients with VTD and controls in Mexico. Some patients with FXII deficiency had normal APTT result, an effect not described above. FXII plasma concentration was lower in patients with low activity.</p></div>","PeriodicalId":8318,"journal":{"name":"Archives of Medical Research","volume":null,"pages":null},"PeriodicalIF":7.7,"publicationDate":"2023-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138501682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}