Risk Factors of Thrombophilia-Related Mutations for Early and Late Pregnancy Loss

Background and Objectives: This retrospective cohort study investigates the role of genetic thrombophilia in pregnant women experiencing early pregnancy loss compared to those with late pregnancy loss. Materials and Methods: Participants were categorized into early and late pregnancy loss groups based on gestational age. A total of 156 patients were included, out of which 103 had early-trimester pregnancy losses and 96 had multiple miscarriages. Results: The study revealed a synergistic effect of Factor V Leiden (FVL G1691A) and Methylenetetrahydrofolate Reductase (MTHFR C677T) mutations (coefficient 3.42). Prothrombin (PT) G20210A and β-Fibrinogen 455 G>A mutations exhibited a significant interaction (coefficient 1.98). Additionally, MTHFR A1298C and Plasminogen Activator Inhibitor-1 (PAI-1 4G/5G) mutations showed a significant interaction (coefficient 1.65). FVL G1691A and Endothelial Protein C Receptor (EPCR) allele A1/A2 mutations also demonstrated a significant association (coefficient 2.10). Lastly, MTHFR C677T and Glycoprotein IIb/IIIa T1565C mutations interacted significantly (coefficient 1.77). Risk factor analysis identified several mutations associated with early pregnancy loss, including PAI-1 4G/5G homozygous (OR 3.01), FVL G1691A heterozygous (OR 1.85), and MTHFR A1298C heterozygous (OR 1.55). Both homozygous and heterozygous MTHFR C677T mutations were significant risk factors (OR 2.38; OR 2.06), as was PT G20210A homozygous mutation (OR 1.92). The PAI-1 4G/4G homozygous variant posed a risk (OR 1.36). Late pregnancy loss was associated with MTHFR A1298C homozygous mutation (OR 3.79), β-Fibrinogen 455 G>A heterozygous mutation (OR 2.20), and MTHFR A1298C heterozygous mutation (OR 2.65). Factor XIII G1002T heterozygous mutation (OR 1.18) and PAI-1 4G/5G homozygous mutation (OR 2.85) were also significant risk factors. EPCR allele A1/A2 (OR 1.60) and A2/A3 (OR 1.73) mutations were identified as significant risk factors for late pregnancy loss. Furthermore, FVL G1691A homozygous mutation, PT G20210A homozygous mutation, MTHFR C677T heterozygous mutation, MTHFR A1298C heterozygous mutation, and EPCR allele A1/A2 were identified as significant risk factors for multiple miscarriage. Conclusions: This study highlights significant interactions and risk factors related to genetic thrombophilia mutations in different types of pregnancy loss, contributing valuable insights for miscarriage management guidelines

Approach to Thrombophilia in Pregnancy—A Narrative Review

Thrombophilia is a genetic predisposition to hypercoagulable states caused by acquired haemostasis conditions; pregnancy causes the haemostatic system to become hypercoagulable, which grows throughout the pregnancy and peaks around delivery. Genetic testing for thrombophilic gene mutations is evaluated using different methodologies of real-time polymerase chain reaction and DNA microarrays of specific genes. Adapting the general care of the pregnant woman to the particularities caused by thrombophilia is an important component, so screening is preferred to assess the degree of genetic damage that manifests itself as a risk of thrombosis. The major goal of this narrative review was to quantitatively evaluate the literature data on the specific care of pregnant women with thrombophilia that are at risk of developing unplanned miscarriages

Evaluation of the Relapse Risk and Survival Rate in Patients with Hodgkin Lymphoma: A Monocentric Experience

Background and objectives: Hodgkin lymphoma (HL) is characterized by the presence of malignant Reed Sternberg cells. Although the current curability rate in patients with HL has increased, up to 30% of those in the advanced stages and 5% to 10% of those in limited stages of the disease, relapse. According to the studies, the relapse risk in HL decreases after 2 years. The purpose of this study is to evaluate the relapse risk and event free survival (EFS) in patients with HL treated with Doxorubicin, Bleomycin, Vinblastine and Dacarbazine (ABVD), or treated with Bleomycin, Etoposide, Doxorubicin, Cyclophosphamide, Vincristine, Procarbazine, and Prednisone (BEACOPP) regimens. Material and methods: In an observational, consecutive-case scenario, 71 patients (median age 32 years; range 16 to 80 years) diagnosed within a 4-year timeframe were enrolled; all patients were treated according to standards of care. The average follow-up duration was 26 months. Results: The risk of relapse, in patients older than 40 years, decreased after 1 year, OR = 0.707 (95% CI 0.506 to 0.988), and 2 years, OR = 0.771 (95% CI 0.459 to 1.295), respectively. Patients in the advanced stages had a higher International Prognostic Score (IPS) (score ≥ 4). The overall survival at 2 years was 57.74% and the disease-specific survival at 2 years was 71.83%. Regardless, the chemotherapy regimen and the EFS time, advanced stage, high IPS and bulky disease were still associated with an increased relapse risk in patients with HL. Conclusions: The use of ABVD chemotherapy regimen followed by 2 years EFS was associated with a reduced relapse risk

High Carbohydrate Diet Is Associated with Severe Clinical Indicators, but Not with Nutrition Knowledge Score in Patients with Multiple Myeloma

Although the survival rate of patients diagnosed with multiple myeloma has doubled over the last few decades, due to the introduction of new therapeutic lines and improvement of care, other potential contributors to the therapeutic response/relapse of disease, such as nutrient intake, along with nutrition knowledge, have not been assessed during the course of the disease. The purpose of this research was to assess nutrition knowledge and diet quality in a group of patients with a diagnosis of multiple myeloma. Anthropometric, clinical and biological assessments and skeletal survey evaluations, along with the assessment of nutritional intake and general nutrition knowledge, were performed on 61 patients with a current diagnosis of multiple myeloma. A low carbohydrate diet score was computed, classified in tertiles, and used as a factor in the analysis. Patients in tertiles indicative of high carbohydrate or low carbohydrate intake showed significant alteration of clinical parameters, such as hemoglobin, uric acid, albumin, total proteins, beta-2 microglobulin, percentage of plasmacytes in the bone marrow and D-dimers, compared to patients in the medium carbohydrate intake tertile. Nutrition knowledge was not associated with clinical indicators of disease status, nor with patterns of nutrient intake. Better knowledge of food types and nutritional value of foods, along with personalized nutritional advice, could encourage patients with MM to make healthier decisions that might extend survival

Assessing Pretransplant and Posttransplant Therapy Response in Multiple Myeloma Patients

Multiple myeloma (MM) is a hematologic cancer defined by an abnormal development of clonal plasma cells in the bone marrow, releasing vast quantities of immunoglobulins and different proteins. In the majority of patients, MM remains incurable despite decades of medical improvement and a number of treatment breakthroughs. Frontline standard-of-care has little long-term success, with the majority of patients eventually relapsing, although the overall progression-free survival (PFS) has improved significantly in the last ten years. Patients who are eligible for a transplant have the highest PFS rate at 5 years, depending on medication response and other various factors that are yet to be discovered. Therefore, the current study aimed to evaluate the response to VCD (bortezomib, cyclophosphamide, dexamethasone) and VTD (bortezomib, thalidomide, dexamethasone) used as pretransplant regimens, as well as to compare responses between thalidomide and lenalidomide used as maintenance therapy posttransplant. This retrospective study was performed on a group of 105 hospitalized patients in the Hematology Department of the Timisoara Municipal Emergency Clinical Hospital between January 2016 and December 2021. Data was collected from the paper records of patients with MM who were under-followed. The treatment regimens used as induction therapy were either VCD or VTD if cyclophosphamide was contraindicated. Of the 105 patients, 27 became eligible for bone marrow transplantation. Furthermore, they received maintenance therapy which was based on either lenalidomide with dexamethasone or thalidomide with dexamethasone. Of the 62 patients treated with VTD, 17.7% were in complete remission before stem cell transplantation. Of the 43 patients treated with VCD, 37.2% were in complete remission. The 5-year mean progression-free survival (PFS) in the entire cohort was better in the group treated with the VTD regimen (31.6 vs. 27.2 months). However, in the 27 patients undergoing maintenance after ASCT, the PFS with thalidomide was 35.5 months (95% CI = 27–42), while the PFS rate in those receiving maintenance treatment with lenalidomide was 46.1 months (95% CI = 20–73). VCD proved to be superior to VTD in inducing complete pretransplant responses. Regarding maintenance therapy, patients from the lenalidomide group had superior responses compared with those under thalidomide

To What Extent Does Cardiovascular Risk Classification of Patients with Type 2 Diabetes Differ between European Guidelines from 2023, 2021, and 2019? A Cross-Sectional Study

Background and Objectives: Type 2 Diabetes (T2DM) is intricately associated with an increased cardiovascular (CV) risk, highlighting the imperative for tailored intervention in the prevention and management of CV diseases. To assess the CV risk and subsequent interventions in patients with diabetes, the European Society of Cardiology (ESC) has been consistently developing and updating specific guidelines for risk assessment and patient management since 2019. The 2023 risk classification method has significantly changed, introducing a novel probability-based assessment through the implementation of SCORE2-Diabetes instrument. This marks a shift from the risk factor-based classification employed in the 2019 and 2021 methods, representing an innovative approach in risk assessment for individuals with T2DM. This study aims to evaluate the differences in the CV risk classification among hospitalized patients with T2DM using the three proposed methods within the Romanian population, a European population considered to be at very high cardiovascular risk. Materials and Methods: in a consecutive-case, population-based study design, 70 patients hospitalized with T2DM from a European population characterized by very high CV risk were assessed for CV risk using the three proposed methods. The differences between these classifications were subsequently analyzed. Results: In the study group, according to 2023 classification, one patient (1.4%) was classified with moderate CV risk, eight (11.4%) with high cardiovascular risk, and sixty-one (87.2%) with very high cardiovascular risk. A total of 36 patients (51.4%) were classified differently compared to 2021 criteria, the differences being statistically significant (p = 0.047), while 13 (18.6%) were different compared to 2019 criteria, the differences being statistically non-significant (p = 0.731). By comparing the 2021 to the 2019 ESC Guidelines recommendations, 40 patients had a one-step decrease in cardiovascular risk category, from very high to high risk. Conclusions: Most patients included in the analysis were classified as very high CV risk (87.2%). Within a European population characterized by very high CV risk, the SCORE2-Diabetes instrument proves to be a valuable tool, contributing to most step-ups in CV risk classes within the 2023 classification. In a very-high-risk demographic, the 2023 algorithm resulted in different classifications in contrast to the 2021 method but similar classifications observed with the 2019 method

Predictors of Epicardial Fat Volume Decrease after Dapagliflozin Treatment in Patients with Type 2 Diabetes

Background and Objectives: Dapagliflozin treatment proved to reduce the epicardial fat volume (EFV) in patients with type 2 diabetes (T2D). Despite the reduction in EFV being associated with improved diastolic function in patients with T2D, EVF is not routinely evaluated in T2D because it is costly and involves radiation exposure. This study aims to identify biomarkers that predict EFV reduction after dapagliflozin treatment in patients with T2D. Materials and Methods: In a prospective, observational, consecutive-case enrollment scenario, 52 patients with T2D were initiated on dapagliflozin 10 mg q.d. as part of the standard of care. At enrollment and after six months of dapagliflozin treatment, patients were evaluated using cardiac ultrasonography, native computer tomography, transient liver elastography, and metabolic lab tests. In addition, the atherogenic index of plasma (AIP), atherogenic coefficient (AC), triglyceride glucose index (TyG), cardiac risk ratio (CRR), and visceral abdominal index (VAI) were calculated. Results: Higher AIP (r = 0.28; p = 0.04), CRR (r = 0.28; p = 0.04), and TyG (r = 0.32; p = 0.01) are associated with more important reductions in the EFV. A lower conicity index (β = −0.29; p = 0.03), visceral fat volume at the 4th vertebrae (L4VFV) (β = −0.32; p = 0.02), left atrium volume (β = −3.08; p = 0.003), and right ventricle diameter (β = −2.13; p = 0.04) are associated with higher reductions in the EFV after six months of dapagliflozin treatment. A valid performance for predicting clinically relevant decreases in EFV after dapagliflozin treatment was observed for AIP (AUROC = 0.903; Youden = 0.732; p p = 0.004), TyG (AUROC = 0.957; Youden = 0.904; p p Conclusion: Higher initial EFV values are associated with more important reductions in EFV in patients with T2D treated for six months with dapagliflozin. TyG values have the best prediction performances for EFV reduction, having the highest sum of sensitivity and specificity at the 0.904 threshold level. AIP, CRR, VAI, conicity index, L4VF, left atrium volume, and right ventricle volume are valid biomarkers for a decrease in EFV after dapagliflozin treatment in diabetes patients

Factors Influencing the Desirability, Acceptability, and Adherence of Patients with Diabetes to Telemedicine

Background and Objectives: Telemedicine solutions have proven their value and efficacy in augmenting diabetes care. In addition to the availability of tools needed to implement telemedicine solutions for patients with diabetes, the patients’ desirability, acceptance, and adherence represent major burdens in implementing them. The main aim of this research is to evaluate which factors are influencing the desirability, acceptance, and adherence of patients with diabetes to telemedicine interventions in diabetes care. Materials and Methods: QTelemeDiab, a previously validated instrument for assessing patients’ desirability, acceptance, and adherence to telemedicine in diabetes care, was used on 114 enrolled patients with diabetes mellitus, in parallel with demographic, socio-economic, disease history, and psychometric data from all patients. Results: Left-skewed score distributions were observed for the QTelemeDiab total score (median = 166; skewness = −1.738), as well as all its components, thus denoting a high desirability, acceptance, and adherence towards telemedicine use. The presence of severe depression was associated with significant decreases in the QTelemeDiab score (148 vs. 167; p < 0.001), as well as on the desirability sub-score (101 vs. 115; p < 0.001) and adherence sub-score (30 vs. 35; p < 0.001). The presence of severe anxiety was associated with significant decreases in QTelemeDiab score (150 vs. 166), as well as the desirability sub-score (104 vs. 114; p = 0.008) and adherence sub-score (30 vs. 34; p = 0.012). Conclusions: There is a high desirability, acceptance, and adherence to the use of telemedicine interventions in patients with diabetes, both in special and in normal epidemiological settings. The presence of severe anxiety decreases the patient’s desirability, acceptance, and adherence, while the presence of severe depression decreases the patient’s desirability and adherence to the use of telemedicine interventions in diabetes care