Current Issue : April-June Volume : 2025 Issue Number : 2 Articles : 5 Articles
Currently, risk stratification for pediatric Hodgkin lymphoma is based on clinical factors such as stage, bulk, and systemic symptoms. Novel minimally invasive biomarkers could enhance both prognosis and treatment strategies. Therefore, the plasma extracellular vesicles’ microRNA profile was characterized by small RNA sequencing in 36 classical Hodgkin lymphoma cases and these findings were confirmed in an extended cohort of 86 patients by RT-qPCR. It was found that the levels of miR-122-5p at diagnosis were significantly higher (p-value: 0.0002) in patients who relapsed compared to patients in remission. The 5-year event-free survival of cases with high and low levels of miR-122-5p was 65 ± 7% and 93 ± 4%, respectively. MiR-122-5p levels were significantly associated with clinical events in both univariate (p-value: 0.0009) and multivariate (p-value: 0.0037) analysis (hazard ratio 5.8). Target prediction analysis suggests an involvement in the polarization of immune cells. The phenotypic characterization of peripheral blood mononuclear cells in 12 patients showed significantly increased levels of CD4+ T-cells in cases with high miR-122-5p levels as compared to low levels (p-value: 0.048). Moreover, CCL17 (TARC) and IL-6 plasma levels at diagnosis were significantly higher as compared to healthy donors (p-value: ≤0.0001). MiR-122-5p could complement current prognostic assays to identify patients at high risk of relapse....
Background: This study aims to investigate the genetic contribution of polymorphic variants of the TCF7L2 (rs7903146) and PPARG (rs1801282) genes to the risk of developing prediabetes in individuals of Kazakh ethnicity. Materials and Methods: This was a case-control study involving 200 cases with prediabetes and 200 prediabetes-free controls, aged 16–60 years (n = 400). Real-time polymerase chain reaction on a StepOnePlus instrument (Applied Biosystems, USA), employing the TaqMan method for site-specific amplification and genotyping of the TCF7L2 (rs7903146) and PPARG (rs1801282) genes was used. Results: Patients with prediabetes had a higher birth weight, increased BMI, larger waist and hip circumferences, and a higher waist-to-hip ratio compared to healthy patients in the control group. There was a significant increase in the risk of developing prediabetes for both the rs1801282 polymorphism of the PPARG gene and the rs7903146 polymorphism of the TCF7L2 gene. The risk was 9.8 times higher in carriers of the GG genotype of PPARG (rs1801282) (OR = 9.769, 95% CI: 2.124–44.922, p = 0.003) and 10.7 times higher for carriers of the TT genotype of TCF7L2 (rs7903146) (OR = 10.731, 95% CI: 1.309–87.939, p < 0.001). Conclusions: These findings highlight the need for tailored early screening and preventive strategies for prediabetes in the Kazakh population, focusing on individuals with high-risk genotypes. Such efforts could improve targeted interventions and reduce the burden of prediabetes. Future research should adopt a longitudinal design, include diverse ethnic groups, and investigate additional genetic markers to provide a more comprehensive understanding of the genetic underpinnings of prediabetes....
Introduction: Generally, microcytic anaemia is caused by sideropenia or a genetic gap. The suspicion that microcytic anaemia is caused by a genetic gap must always be considered in the face of an inadequate response to martial therapy. The aim of this paper is to highlight how biochemical diagnosis alone is sometimes not sufficient to understand the cause of microcytic anaemia. For this reason, for a correct genotype–phenotype correlation, it is essential to identify the defective gene underlying the microcytic anaemia. Detailed Case Description: This case concerns a married couple who both have microcytic anaemia. They came to our attention because the lady, pregnant at 12 weeks, underwent screening for chromosomal abnormalities using combined tests in the first trimester of pregnancy. A biochemical screening performed ten years earlier showed that both spouses were healthy carriers of the beta-thalassemia trait. A careful analysis of the biochemical data and an in-depth molecular diagnosis of the alpha and beta globin genes showed that the woman was a healthy carrier of the beta-thalassemia trait while the husband was a healthy carrier of a mutation in the ALAS2 gene. Analysis of the biochemical data of her husband and family members revealed that she had X-linked microcytic sideroblastic anaemia caused by an alteration in the function of the ALAS2 (5-Aminolevulinate Synthase 2) gene located on the short arm of the X chromosome (Xp11.21). Discussion and Conclusions: This result is very relevant as, during genetic counselling, we explained to the couple that invasive prenatal diagnosis was not necessary as there is no risk of procreating a transfusion-dependent individual....
Background: Cardiovascular disease is a leading cause of mortality globally and a major contributor to disability. Traditional risk factors, as initially established in the FRAMINGHAM study, have helped to stratify populations and identify patients for early intervention. Incorporating genetic factors enhances risk stratification tools, enabling the earlier identification of individuals at increased risk and facilitating more targeted and effective risk factor modifications. While monogenic risk variants are present in a minority of the population, polygenic risk scores (PRS) are collections of multiple single-nucleotide variants that collectively provide summative risk and capture a more accurate risk score for a greater number of people. PRS have demonstrated clear utility in cardiometabolic diseases by predicting onset, progression, and therapeutic response. Methods: A structured and exploratory hybrid search strategy was employed, combining keyword-based database searches and supplementary techniques to comprehensively synthesize the literature on PRS implementation in clinical practice. Discussion: A comprehensive overview of PRS in cardiometabolic diseases and their potential avenues for integration into primary care is discussed. First, we examine the implementation of genetic screening, risk communication, and intervention strategies through the lens of the American Heart Association’s implementation criteria, focusing on their efficacy, minimization of harm, and logistical considerations. Then, we explores how the varied perceptions of patients and practitioners towards PRS can influence both adoption and utilization. Lastly, we addresses the need for the development of clear guidelines and regulations to support this process, ensuring PRS integration is both scientifically sound and ethically responsible. Future directions: Initiatives aimed at advancing personalized approaches to disease prevention will enhance health outcomes. Developing guidelines for the responsible use of PRS by establishing benefits, while mitigating risk, will a key factor in implementation for clinical utility. Conclusions: For integration into clinical practice, we must address both patient and provider concerns and experience. Standardized guidelines and training will help to effectively implement PRS into clinical practice. Developing these resources will be essential for PRS to fulfill its potential in personalized, patient-centered care....
(1) Background: The study involves an assessment of the frequency of selected gene variants related to folate uptake and distribution (FOLR1 rs2071010, rs630074, FOLH1 rs61886492, GGH rs11545078, rs3758149 and SLC19A1 rs1051266) in a group of women with fetal demise in the Polish population. (2) Methods: A total of 310 subjects were enrolled in the study. There were 110 females with idiopathic recurrent miscarriages (RM), 80 with stillbirth (IUFD) and 120 healthy controls. Designated SNVs were determined by using PCR-RFLP methods. The difference in fetal demise prevalence was assessed using a chi-square test and logistic regression analysis. (3) Results: The rs630074 variant of the FOLR1 gene is associated with a statistically significant increase in the risk of IUFD in a recessive model (OR = 2.03, 95%CI: 1.06–3.90, p = 0.033). The rs61886492variant f FOLH1 is linked to an increased risk of IUFD in co-dominant (p = 0.030), dominant (OR = 2.62, 95%CI: 1.07–6.38, p = 0.032) and log-additive models (OR = 2.64, 95%CI: 1.15–6.06 p = 0.030). In female carriers of the A allele, the risk of IUFD was 2.8 times higher compared to the control group. No relationship between the mother’s genotype and the newborn’s birth weight or placental weight was observed for the studied SNVs. (4) Conclusions: Our study finds that the rs61886492 variant of the FOLH1 gene is associated with IUFD in Polish women. However, pregnancy failures have a multifactorial pathology and other genetic or environmental factors may also contribute to their complex etiology. Further research, preferably with larger groups of women from different ethnic backgrounds, is needed to confirm the results of the current study...
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