Investigation of SCUBE-1 levels in pediatric patients with beta-thalassemia

Acıpayam, Can; Tuncel, Defne Ay; Güneş, Hatice; Akkeçeci, Behiye Nurten Seringeç; Tolun, Fatma İnanç; İpek, Sevcan; Duyuran, Ömer

doi:10.28982/josam.653402

Cited by 3 publications

(2 citation statements)

References 28 publications

(30 reference statements)

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“…This result was consistent with studies conducted in Palestine and Wasit, where an increased WBC count was attributed to the presence of nucleated red blood cells [22,23] . However, the platelet count did not show a significant difference between patients and controls in the current study (p=0.683), which was in line with findings from a study conducted in Turkey [24] . Serum ferritin levels were significantly higher in patients compared to controls (36232.674 ng/ml vs. 65.839.36 ng/ml), with a highly significant difference (p<0.001).…”

Section: Discussionsupporting

confidence: 91%

Investigation of JAK2 V617F mutation prevalence in a sample of Iraqi patients with Beta thalassemia major

Ameer¹,

Ahmed²

2023

Int. J. Clin. Diagn. Pathol.

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Introduction: β-thalassemia major is a common inherited hemoglobin disorder worldwide, characterized by shortened red cell survival, defective hemoglobin synthesis, resulting in hemolytic anemia, ineffective erythropoiesis, severe anaemia, hypoxia, and hepatosplenomegaly. This study aimed to evaluate the occurrence of the JAK2 V617F mutation and JAK2 polymorphism in βthalassemia patients compared to non-β-thalassemia controls. Additionally, the relationship between JAK2 mutations/polymorphisms and specific clinical and hematological parameters was investigated. Methods: This was a case-control study involving 71 participants, comprising 51 individuals with βthalassemia major (patient group) and 20 healthy individuals matched for age and gender (control group). Hematological parameters were measured using an automated analyzer. Venous blood samples were collected with EDTA anticoagulant and stored at 4 °C for subsequent detection of JAK2 V617F mutation using DNA sequencing methods. Results: Analysis of β-thalassemia patients receiving regular blood transfusions revealed significantly lower levels of red blood cells (RBCs), packed cell volume (PCV), hemoglobin (Hb), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and higher levels of white blood cells (WBC) and ferritin compared to the control group. However, the JAK2 V617F mutation was not detected in any patients or controls. The most common genotype observed in β-thalassemia patients was TC (52.94%), followed by the TT genotype, but this did not show significant associations with clinical and hematological parameters. However, there were significant differences in the frequencies of genotypes of the rs12343867 polymorphism between patients and controls. Conclusion:The study did not find evidence supporting the role of JAK2 V617F mutation in the development or clinical course of β-thalassemia. Furthermore, the mutation was not detected in the normal subjects either. The frequency of JAK2 gene polymorphism did not significantly differ between thalassemia patients and normal subjects, and different genotypes of the gene polymorphism did not show associations with demographic, clinical, or hematological parameters.

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Section: Discussionsupporting

confidence: 91%

Investigation of JAK2 V617F mutation prevalence in a sample of Iraqi patients with Beta thalassemia major

Ameer¹,

Ahmed²

2023

Int. J. Clin. Diagn. Pathol.

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“…Acıpayam et al study reported that SCUBE-1can indicate early stages of thrombosis in patients with beta thalassemia [7]. In recent years, this protein has been investigated because of its role in vascular damage and thrombosis.…”

Section: Discussionmentioning

confidence: 99%

Validity of Signal Peptide-CUB-EGF Domain-containing Protein-1 (SCUBE-1) in the Diagnosis of Aortic Dissection

2020

Signa Vitae

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Introduction: Diagnosing aortic dissection (AD) in emergency services still represents a challenging issue as it may manifest not only well-known clinical findings such as sudden onset and severe chest pain but also atypical findings similar to ST elevation myocardial infarction or renal colic. Contrast-enhanced imaging investigations, which are expensive and risky due to possible complications, are necessary for diagnosis. Ultrasonography is not always reliable, which necessitates noninvasive diagnostic tests to support a clinical suspicion. Signal peptide-CUB (complement C1r/C1s, Uegf, and Bmp1)-EGF (epidermal growth factor) domain-containing protein 1 (SCUBE-1) is a cell surface protein produced during embryogenesis. This study was conducted to compare the levels of this novel biomarker between patients with AD and healthy volunteers. Methods: This prospective study was conducted on 20 patients diagnosed with AD using contrast-enhanced thoracoabdominal computed tomography angiography. Average age-matched 20 healthy subjects as a control group were included as a reference for biochemical parameters. Results: The mean SCUBE-1 levels were significantly higher in patients with AD [24.51 ( ± 3.01) ng/dL] than in the control group [12.11 ( ± 5.31) ng/dL] (p < 0.001). Receiver-operating characteristic (ROC) curve was plotted to analyze the specificity and sensitivity of AD diagnosis (with 95% confidence intervals), which revealed 95% sensitivity and 76% specificity when the SCUBE-1 level was >19.75 ng/dL.A significant correlation was also observed between dissection types and mortality, as well as extravasation state. Conclusions: This preliminary study demonstrated that plasma SCUBE-1 level is a better and specific biomarker for AD and may be used for diagnosing AD in emergency services. Wider case series and further clinical studies are required to confirm these findings.

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The predictive value of serum SCUBE-1 level for left ventricular thrombus in patients with post myocardial infarction heart failure

Ozgul

Öztürk

Kerkütlüoğlu

et al. 2022

Turkish Journal of Biochemistry

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Objectives Left ventricular thrombus is regarded as one of the main myocardial infarction complications. Knowing the left ventricular thrombus symptoms prevents serious complications that may occur. This study aims to reveal any association between SCUBE-1 and left ventricular thrombus, thought to be involved in platelet aggregation and adhesion. Methods The study included 80 patients diagnosed with heart failure following acute myocardial infarction, applying for the cardiology outpatient clinic for third-month follow-up. The patients were included in two groups to see if the left ventricular thrombus was present. Thus, 22 patients were found to have left ventricular thrombus. The two groups were compared based on clinical laboratory and echocardiographic parameters. Results It was found that the patients with left ventricular thrombus had significantly higher Serum SCUBE-1 levels (p<0.001). The optimal cutoff point of SCUBE-1 levels for predicting the LVT was >35.1 ms, with the specificity of 86% and sensitivity of 68.4% (AUC=0.815; 95% CI, 0.699–0.931; p<0.0001). SCUBE -1 level (OR=1.090, 95% CI: 1.034–1.150, p<0.001) in the multiple logistic regression model continue to significantly predict LVT after adjusting for the confounding variables, as statistically significant in the univariate analysis of the variables which correlated with the SCUBE-1 levels. Conclusions SCUBE-1 level was determined to independently predict the left ventricular thrombus after a previous anterior myocardial infarction.

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Investigation of SCUBE-1 levels in pediatric patients with beta-thalassemia

Cited by 3 publications

References 28 publications

Investigation of JAK2 V617F mutation prevalence in a sample of Iraqi patients with Beta thalassemia major

Investigation of JAK2 V617F mutation prevalence in a sample of Iraqi patients with Beta thalassemia major

Validity of Signal Peptide-CUB-EGF Domain-containing Protein-1 (SCUBE-1) in the Diagnosis of Aortic Dissection

The predictive value of serum SCUBE-1 level for left ventricular thrombus in patients with post myocardial infarction heart failure

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