Clinica Chimica Acta最新文献

{"title":"Circular RNAs in laryngeal cancer","authors":"Masoumeh Razipour ,&nbsp;Zeinab Jamali ,&nbsp;Marjan Khorsand ,&nbsp;Mahsa Zargar ,&nbsp;Mohaddese Maghsudlu ,&nbsp;Elham Ghadami ,&nbsp;Abbas Shakoori","doi":"10.1016/j.cca.2024.119916","DOIUrl":"10.1016/j.cca.2024.119916","url":null,"abstract":"<div><p>Laryngeal cancer remains a significant global health concern, with poor prognosis for advanced-stage disease highlighting the need for novel diagnostic, prognostic, and therapeutic approaches. Circular RNAs (circRNAs), a class of covalently closed non-coding RNAs, have emerged as important regulators of gene expression and cellular processes in various cancers, including laryngeal cancer. This review summarizes the current understanding of circRNAs in laryngeal cancer, covering their biogenesis, regulatory mechanisms, and potential clinical applications. We explore the diverse functions of circRNAs, including their roles as miRNA sponges, protein interactors, and direct mRNA regulators, and their influence on key cellular processes such as proliferation, invasion, and metastasis. The review highlights promising circRNAs as diagnostic and prognostic biomarkers, as well as potential therapeutic targets. We also outline current strategies for circRNA modulation, including suppression techniques like RNA interference and CRISPR/Cas systems, and overexpression methods using vectors and synthetic circRNAs.</p></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141995421","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":"Pediatric reference values of NT-proBNP and Galectin-3 based on a French cohort","authors":"Victor Gravrand ,&nbsp;Corentin S. Lefebvre ,&nbsp;Fatma Hamza ,&nbsp;Thibaud Della-Negra ,&nbsp;Vincent Coyaud ,&nbsp;Axelle Vasseur ,&nbsp;Carole Hennequin ,&nbsp;Valérie Nivet-Antoine ,&nbsp;Damien Schaffner","doi":"10.1016/j.cca.2024.119925","DOIUrl":"10.1016/j.cca.2024.119925","url":null,"abstract":"<div><h3>Background</h3><p>In pediatric cardiology, the fact that some new biomarkers have assay-specific normal values has to be considered for correct clinical decisions. The current study aimed to provide age-adjusted normative values for NT-proBNP and Galectin-3 using the Abbott immunoassay system from a prospective French pediatric cohort sera collection and to validate our data for NT-proBNP on a second retrospective cohort.</p></div><div><h3>Methods</h3><p>We analyzed 283 consecutive samples for NT-proBNP and 140 samples for Galectin-3 collected from apparently healthy children (0–18 years) with outpatient treatment at our institution (Hôpital Necker-Enfants malades, Paris, France) during 24 months.</p></div><div><h3>Results</h3><p>For NT-proBNP and Galectin-3, we establish four age partitions, respectively two (&lt;2 years / &gt;2 years) and establish upper reference values and their 90 % CI for each biomarker (Galectin-3 (ng/mL): 56 [44–70] / 26 [23–29]). We evaluated the diagnostic performance of our upper reference values of NT-proBNP on a retrospective cohort (n = 428) with positive predictive value of 0.92.</p></div><div><h3>Conclusions</h3><p>Using Abbott immunoassay system, we report age-specific reference values for NT-proBNP and for the first time for Galectin-3 in a healthy French pediatric cohort. These data call for larger cohort studies to define more robustly percentiles and diagnostic performance for NT-proBNP.</p></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141995423","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":"Preeclampsia: A comprehensive review","authors":"Majida Ali ,&nbsp;Madiha Ahmed ,&nbsp;Mehwish Memon ,&nbsp;Fozia Chandio ,&nbsp;Quratulain Shaikh ,&nbsp;Amna Parveen ,&nbsp;Abdul-Rehman Phull","doi":"10.1016/j.cca.2024.119922","DOIUrl":"10.1016/j.cca.2024.119922","url":null,"abstract":"<div><p>Preeclampsia (PE) is a life-threatening disease of pregnancy and a prominent cause of neonatal and maternal mortality and morbidity. PE affects approximately 5–10% of pregnancies worldwide, posing significant risks to perinatal and maternal health. It is characterized by a variety of interconnected pathological cascades contributing to the stimulation of intravascular inflammation, oxidative stress (OS), endothelial cell activation, and syncytiotrophoblast stress that converge on a common pathway, ultimately resulting in disease progression. The present study was designed and executed to review the existing scientific literature, specifically focusing on the etiology (gestational diabetes mellitus and maternal obesity, insulin resistance, metabolic syndrome, maternal infection, periodontal disease, altered microbiome, and genetics), clinical presentations (hypertension, blood disorders, proteinuria, hepatic dysfunction, renal dysfunction, pulmonary edema, cardiac dysfunction, fetal growth restrictions, and eclampsia), therapeutic clinical biomarkers (creatinine, albuminuria, and cystatin C) along with their associations and mechanisms in PE. In addition, this study provides insights into the potential of nanomedicines for targeting these mechanisms for PE management and treatment. Inflammation, OS, proteinuria, and an altered microbiome are prominent biomarkers associated with progression and PE-related pathogenesis. Understanding the molecular mechanisms, exploring suitable markers, targeted interventions, comprehensive screening, and holistic strategies are critical to decreasing the incidence of PE and promoting maternal-fetal well-being. The present study comprehensively reviewed the etiology, clinical presentations, therapeutic biomarkers, and preventive potential of nanomedicines in the treatment and management of PE.</p></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141981850","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":"Retraction notice to “Polymorphisms of tumor necrosis factor-α, interleukin-10, cytochrome P450 3A5 and ABCB1 in Chinese liver transplant patients treated with immunosuppressant tacrolimus” [Clinica. Chimica. Acta 383(1–2) (2007) 133–139]","authors":"Dan Li ,&nbsp;Ji-Ye Zhu ,&nbsp;Jie Gao ,&nbsp;Xin Wang ,&nbsp;Ya-Qing Lou ,&nbsp;Guo-Liang Zhang","doi":"10.1016/j.cca.2024.119865","DOIUrl":"10.1016/j.cca.2024.119865","url":null,"abstract":"","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0009898124021181/pdfft?md5=e301f025bdc5ee3dd340baddb7ff2db6&pid=1-s2.0-S0009898124021181-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141912048","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":"The growth factor content as an indicator of platelet counts in platelet-rich plasma","authors":"Ching-Hui Lee ,&nbsp;Chih-Yi Lee ,&nbsp;Huey-Ling You ,&nbsp;You-Ting Wu ,&nbsp;Ding-Ping Chen","doi":"10.1016/j.cca.2024.119901","DOIUrl":"10.1016/j.cca.2024.119901","url":null,"abstract":"<div><h3>Background</h3><p>Platelet contains growth factors that enhance tissue repair mechanisms, including epidermal growth factor (EGF), platelet-derived growth factor (PDGF-AA and −AB), and transforming growth factor (TGF)-β. Autologous platelet-rich plasma (PRP) has been shown to significantly improve the treatment of tendon injuries compared with hyaluronic acid and placebo. The topic of agreement between platelet concentrations and growth factors has been covered in some previous studies, but growth factor levels did not correlate well with platelet concentrations.</p></div><div><h3>Method</h3><p>In this study, autologous PRP was prepared by concentrating platelets through a J6-MI centrifuge. The automatic hematology analyzer Sysmex XN-20 was used to analyze the platelet concentration in PRP, and the PRP growth factors were determined by ELISA, including PDGF, transforming growth factor- β1 (TGF-β1), and EGF. Statistical analysis was conducted on data from 107 patients who received autologous PRP using Pearson correlation analysis.</p></div><div><h3>Results</h3><p>Pearson correlation analysis revealed PDGF, TGF, and EGF had a strong positive correlation with the platelet concentration of the final PRP product (r = 0.697, p &lt; 0.0001; r = 0.488, p &lt; 0.0001; r = 0.572, p &lt; 0.0001, respectively)</p></div><div><h3>Conclusions</h3><p>There was a strong positive correlation between the concentration of platelets in the final PRP product and the levels of PDGF-AB, TGF-β, and EGF. These results suggested straightforward and cost-effective growth factor tests can provide valuable information about platelet content in PRP.</p></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141970744","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":"Decreased plasma docosahexaenoic acid concentration in chronic obstructive pulmonary disease patients with pulmonary Hypertension: Findings from human lipidomics and transcriptomics analysis","authors":"Lu Wang ,&nbsp;Fajiu Li ,&nbsp;Shunlian Hu ,&nbsp;Yahan Xu ,&nbsp;Ziyang Zhu ,&nbsp;Wei Qin ,&nbsp;Wei Yu ,&nbsp;Ying Chen ,&nbsp;Tao Wang","doi":"10.1016/j.cca.2024.119899","DOIUrl":"10.1016/j.cca.2024.119899","url":null,"abstract":"<div><p>Oxylipins derived from polyunsaturated fatty acids (PUFAs) are important endogenous signaling molecules, but are little characterized in pulmonary hypertension (PH) due to chronic obstructive pulmonary disease (COPD). In this study, we identified novel plasma oxylipins associated with PH risk in COPD patients. The plasma oxylipin profiles of COPD patients without PH (COPD-noPH) or with PH (COPD-PH) were obtained from discovery and validation cohort, using the process of LC-MS/MS analysis. There was a significant decrease in the plasma levels of both free docosahexaenoic acid (DHA) and DHA-derived oxylipins in the COPD-PH group. The multivariable logistic regression model identified DHA and four DHA-derived oxylipins (13-HDHA, 10-HDHA, 8-HDHA and 16-HDHA) exhibited significant differences between the two groups after adjusting for sex, BMI, FEV1% predicted, and smoking status. The diagnostic value of these metabolites was further evaluated through ROC curve analysis. The transcriptome profiles in peripheral blood mononuclear cells (PBMCs) of COPD-PH patients and COPD-PH patients were detected through high-throughput sequencing. The enrichment analysis revealed that the upregulated differentially expressed genes (DEGs) were highly enriched in the interferon signaling pathway. In addition, DHA supplementation proved that DHA may inhibit the development of pH by reducing the secretion of interferons derived from PBMCs. This conjecture was further confirmed by the higher level of serum interferon-γ and interferon-α2 of COPD-PH patients than that of COPD-noPH patients. The present study highlights that decreased DHA and DHA-derived oxylipins levels are suggestive of a higher risk of pH development in COPD cases.</p></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141970743","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":"Unveiling thiol biomarkers: Glutathione and cysteamine","authors":"M.G. Gopika,&nbsp;Surya Gopidas,&nbsp;Gokul S. Jayan,&nbsp;P.S. Arathy,&nbsp;Beena Saraswathyamma","doi":"10.1016/j.cca.2024.119915","DOIUrl":"10.1016/j.cca.2024.119915","url":null,"abstract":"<div><p>The physiological and clinical importance of Glutathione and Cysteamine is emphasized by their participation in a range of conditions, such as diabetes, cancer, renal failure, Parkinson’s disease, and hypothyroidism. This necessitates the requirement for accessible, expedited, and cost-efficient testing that can facilitate clinical diagnosis and treatment options. This article examines numerous techniques used to detect both glutathione and cysteamine. The discussed methods include electroanalytical techniques such as voltammetry and amperometry, which are examined for their sensitivity and ability to provide real-time analysis. Furthermore, this study investigates the accuracy of gas chromatography-mass spectrometry (GC–MS) and high-performance liquid chromatography (HPLC) in measuring the concentrations of glutathione and cysteamine. Additionally, the potential of new nanotechnology-based methods, such as plasmonic nanoparticles and quantum dots, to improve the sensitivity of detecting glutathione and cysteamine is emphasized.</p></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141970745","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":"Establishment of a rapid detection method for Mycoplasma pneumoniae based on RPA-CRISPR-Cas12a technology","authors":"Ge Li ,&nbsp;Jing Zhou ,&nbsp;Nana Gao ,&nbsp;Runde Liu ,&nbsp;Jilu Shen","doi":"10.1016/j.cca.2024.119906","DOIUrl":"10.1016/j.cca.2024.119906","url":null,"abstract":"<div><p>Mycoplasma pneumoniae can cause respiratory infections and pneumonia, posing a serious threat to the health of children and adolescents. Early diagnosis of Mycoplasma pneumoniae infection is crucial for clinical treatment. Currently, diagnostic methods for Mycoplasma pneumoniae infection include pathogen detection, molecular biology techniques, and bacterial culture, all of which have certain limitations. Here, we developed a rapid, simple, and accurate detection method for Mycoplasma pneumoniae that does not rely on large equipment or complex operations. This technology combines the CRISPR-Cas12a system with recombinase polymerase amplification (RPA), allowing the detection results to be observed through fluorescence curves and immunochromatographic lateral flow <span><span>strips.It</span><svg><path></path></svg></span> has been validated that RPA-CRISPR/Cas12a fluorescence analysis and RPA-CRISPR/Cas12-immunochromatographic exhibit no cross-reactivity with other common pathogens, and The established detection limit was ascertained to be as low as 10² copies/µL.Additionally, 49 clinical samples were tested and compared with fluorescence quantitative polymerase chain reaction, demonstrating a sensitivity and specificity of 100%. This platform exhibits promising clinical performance and holds significant potential for clinical application, particularly in settings with limited resources, such as clinical care points or resource-constrained areas.</p></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141912035","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":"Persistent acute kidney injury biomarkers: A systematic review and meta-analysis","authors":"Keran Shi ,&nbsp;Wei Jiang ,&nbsp;Lin Song ,&nbsp;Xianghui Li ,&nbsp;Chuanqing Zhang,&nbsp;Luanluan Li,&nbsp;Yunfan Feng,&nbsp;Jiayan Yang,&nbsp;Tianwei Wang,&nbsp;Haoran Wang,&nbsp;Lulu Zhou,&nbsp;Jiangquan Yu,&nbsp;Ruiqiang Zheng","doi":"10.1016/j.cca.2024.119907","DOIUrl":"10.1016/j.cca.2024.119907","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Background&lt;/h3&gt;&lt;p&gt;Various biomarkers reportedly predict persistent acute kidney injury (AKI) despite their varying predictive performance across clinical trials. This study aims to compare the accuracy of various biomarkers in predicting persistent AKI in different populations and regions.&lt;/p&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Methods&lt;/h3&gt;&lt;p&gt;In this &lt;em&gt;meta&lt;/em&gt;-analysis, we searched for urinary C–C motif chemokine ligand 14 (CCL14), Tissue inhibitor of metalloproteinase-2&amp;insulin-like growth factor-binding protein-7 (TIMP-2&amp;IGFBP7), Neutrophil Gelatinase-Associated Lipocalin (NGAL), plasma Cystatin C (pCysC), Soluble urokinase plasminogen activator receptor (suPAR), Proenkephalin (PenK) and urinary dickkopf-3:urinary creatinine (uDKK3:uCr) from various databases including Medline, PubMed, Embase, and Cochrane. This was geared towards predicting persistent AKI in adults (&gt;18 years). Hierarchically summarized subject work characteristic curves (HSROC) and diagnostic odds ratio (DOR) values were used to summarize the diagnostic accuracy of the biomarkers. Further, &lt;em&gt;meta&lt;/em&gt;-regression and subgroup analyses were carried out to identify sources of heterogeneity as well as evaluate the best predictive biomarkers in different populations and regions.&lt;/p&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;p&gt;We screened 31 studies from 2,356 studies and assessed the diagnostic value of 7 biomarkers for persistent AKI. Overall, CCL14 had the best diagnostic efficacy with an AUC of 0.79 (95 % CI 0.75–0.82), whereas TIMP-2 &amp; IGFBP7, NGAL, and pCysC had diagnostic efficacy of 0.75 (95 % CI 0.71–0.79),0.71 (95 % CI 0.67–0.75), and 0.7007, respectively. Due to a limited number of studies, PenK, uDKK3:uCr, and suPAR were not subjected to &lt;em&gt;meta&lt;/em&gt;-analysis; however, relevant literature reported diagnostic efficacy above 0.70. Subgroup analyses based on population, region, biomarker detection time, AKI onset time, and AKI duration revealed that in the intensive care unit (ICU) population, the AUC of CCL14 was 0.8070, the AUC of TIMP-2 &amp; IGFBP7 was 0.726, the AUC of pCysC was 0.72, and the AUC of NGAL was 0.7344; in the sepsis population, the AUC of CCL14 was 0.85, the AUC of TIMP-2&amp;IGFBP7 was 0.7438, and the AUC of NGAL was 0.544; in the post-operative population, the AUC of CCL14 was 0.83–0.93, the AUC of TIMP-2&amp;IGFBP7 was 0.71, and the AUC of pCysC was 0.683. Regional differences were observed in biomarker prediction of persistent kidney injury, with AUCs of 0.8558 for CCL14, 0.7563 for TIMP-2 &amp; IGFBP7, and 0.7116 for NGAL in the Eurasian American population. In the sub-African population, TIMP-2 &amp; IGFBP7 had AUCs of 0.7945, 0.7418 for CCL14, 0.7097 for NGAL, and 0.7007 for pCysC. for TIMP-2 &amp; IGFBP7 was 0.7945, AUC for CCL14 was 0.7418, AUC for NGAL was 0.7097, and AUC for pCysC was 0.7007 in the sub-African population. Duration of biomarker detection, AKI onset, and AKI did not influence the optimal predictive performance of CCL14. Subgroup anal","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0009898124021600/pdfft?md5=3229d85b342d9c690917a3e421541b00&pid=1-s2.0-S0009898124021600-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141912037","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":"Multiplex droplet digital PCR for 22q11.2 microdeletions screening and DiGeorge syndrome diagnostics","authors":"Igor Petrovich Oscorbin ,&nbsp;Maria Alexandrovna Gordukova ,&nbsp;Nataliia Vladimirovna Davydova ,&nbsp;Natalia Valentinovna Zinovieva ,&nbsp;Elena Fedorovna Kovzel ,&nbsp;Lucia Andries ,&nbsp;Dmitry Anatolyevich Kudlay ,&nbsp;Maxim Leonidovich Filipenko","doi":"10.1016/j.cca.2024.119903","DOIUrl":"10.1016/j.cca.2024.119903","url":null,"abstract":"<div><h3>Background and aims</h3><p>DiGeorge syndrome (DGS) is a genetic disorder manifesting in polymorphic symptoms related to developmental abnormalities of various organs including thymus. DGS is caused by microdeletions in the 22q11.2 region between several low copy repeats (LCR) occurring in approximately 1 in 4000 live births. Diagnosis of DGS relies on phenotypic examination, qPCR, ultrasound, FISH, MLPA and NGS which can be relatively inaccurate, time-consuming, and costly.</p></div><div><h3>Materials and methods</h3><p>A novel multiplex droplet digital PCR (ddPCR) assay was designed, optimized and validated for detection and mapping 22q11.2 microdeletions by simultaneous amplification of three targets — <em>TUPLE1</em>, <em>ZNF74</em>, D22S936 — within the deletion areas and one reference target — <em>RPP30</em> — as an internal control.</p></div><div><h3>Results</h3><p>The assay reliable identified microdeletions when the template concentration was &gt;32 copies per reaction and successfully detected LCR22A-B, LCR22A-C, LCR22A-D, and LCR22B-C deletions in clinical samples from 153 patients with signs of immunodeficiency. In patients with the microdeletions, flow cytometry detected a significant increase in B-cell and natural killer cell counts and percentages, while T-cell percentages and T-cell receptor excision circle (TREC) numbers decreased.</p></div><div><h3>Conclusion</h3><p>The designed ddPCR assay is suitable for diagnosing DGS using whole blood and blood spots.</p></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141912036","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}