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.

Background: Cardiac autonomic neuropathy (CAN) is a serious but sometimes underdiagnosed complications of Diabetes Mellitus (DM). Because of the subtle onset and non-specific symptoms that can be mistaken for other conditions, CAN is frequently underdiagnosed despite the serious consequences that can appear. Its significance as an independent risk factor for cardiovascular events, including arrhythmias, sudden cardiac death, and silent myocardial ischemia, is being demonstrated by recent studies. The objective of this review article is to highlight the reasons why CAN is underdiagnosed and its association with decreased cardiovascular risk and promote clinical awareness. This review article summarizes the epidemiology, influence on the cardiovascular system and diagnostic methods of CAN, and the clinical implications of diabetic neuropathy. This review analyzes available data from papers relevant to the topic of diabetic neuropathy, cardiac autonomic neuropathy, and cardiovascular system implications. Conclusions: CAN is still underdiagnosed despite its clinical impact because routine screening is lacking, and healthcare providers are not aware of it. To improve outcomes for people with DM, it is necessary to introduce standardized diagnostic procedures into clinical practice and increase the knowledge about CAN.

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.

Background and objectives: Thrombophilia in pregnant women is a condition whose incidence is constantly increasing worldwide, and, under these conditions, the development of preventive procedures is becoming essential. In this study, we aimed to evaluate thrombophilia in pregnant women in the western part of Romania and to establish anthropometric characteristics, socioeconomic features, and genetic and risk factors. Material and Methods: 178 pregnant women were divided into three study groups, according to the type of thrombophilia, aiming to carry out the genetic profile and the acquired one. Anthropometric measures and biological tests were performed. Results: The mixed type of thrombophilia predominates. The particularities of pregnant women diagnosed with thrombophilia are higher age, living in an urban environment, with normal BMI, approximately 36 weeks of gestational period, and having at least one miscarriage. Regarding the most frequent thrombophilic genetic markers, we obtained the MTFHR gene mutation C677T and A1298C, followed by the PAI-1 4G/5G gene mutation. Smoking represents an aggravating factor in the evolution of this pathology, manifested through the increase of D-dimers and the decrease in antithrombin values, simultaneously with the increase in therapeutic need. Conclusions: The predominance of MTHFR and PAI-1 4G/5G gene polymorphism is a particularity of pregnant women with thrombophilia from the western part of Romania. Smoking is confirmed as an important risk factor in spontaneous abortion.

A thrombophilic woman is more likely to experience difficulties during pregnancy, difficulties that will also affect the development of the newborn. This study aims to compare maternal and newborn characteristics between healthy and thrombophilic pregnancy. The following characteristics were analysed: maternal characteristics (BMI- body mass index, haemostasis parameters, thrombophilia-specific treatment) and newborn characteristics (gestational period, birth weight, the Apgar score). This follow-up study spanning five years, from 2018 to 2022, focuses on a cohort of 500 women who underwent delivery hospitalization in the western region of Romania. The maternal characteristics influence the newborn: the greater the weight of the mother with thrombophilia, the more the chances that the fetus will have a lower birth weight; increasing the dose of LMWH (low molecular weight heparin), connected with the necessity to control the homeostasis parameters, the more likely the fetus will be born with a lower birth weight. A pregnant woman with thrombophilia, treated appropriately, having a normal weight, and not presenting other risk factors independent of thrombophilia, will have a newborn with characteristics similar to a healthy pregnant woman.

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.