Background and Objectives: Cardiovascular disease is a leading cause of global death with a rising prevalence and a heavy economic burden. Periodontal disease has been associated with cardiovascular diseases—including incident coronary heart disease, peripheral artery disease and ischemic stroke. The study evaluates the quality of life of patients with cardiovascular and periodontal disease from the point of view of oral health by using the short version of the Oral Health Impact Profile (OHIP-14) questionnaire. Materials and Methods: This study included a total of 221 patients (61.86 ± 15.03 years old) selected from the Emergency Hospital of Sibiu, Romania. The participants self-completed the OHIP-14 questionnaire and they benefited from an oral health examination conducted to assess the presence and the severity of periodontal disease. Results: Out of the 147 patients with cardiovascular disease, 77.5% had periodontal disease (32.6% stage I, 29.2% stage II, and 15.6% stage III and IV). The presence of periodontal disease was associated with a lower oral-health-related quality of life (p < 0.001, ANOVA) and with a higher OHIP-14 score in patients with cardiovascular disease (18.67 ± 8.17, p < 0.001 ANOVA). No significant difference was observed concerning patient sex and background; however, age, body mass index and the lack of an appropriate oral hygiene routine had a strong association with the individual quality of life. The general OHIP-14 score was higher in patients with periodontal disease and associated cardiovascular disease, the presence of both cardiovascular and periodontal disease being associated with a lower quality of life. Conclusions: By increasing the patients’ awareness to oral healthcare measures, better outcomes and improved oral-health-related quality of life could be observed.

Monoamine oxidases (MAOs) are mitochondrial enzymes with 2 isoforms that have emerged as important contributors to cardiovascular oxidative stress via the constant generation of hydrogen peroxide. The present study was purported to assess whether MAO-derived H₂O₂ contributes to the endothelial dysfunction in mammary arteries harvested from coronary heart disease patients with and without diabetes mellitus subjected to coronary artery bypass grafting. To this aim, the effects of MAO inhibition on vascular contractility to phenylephrine and endothelial-dependent relaxation (EDR) in response to acetylcholine were studied in vascular segments. Clorgyline (irreversible MAO-A inhibitor), selegiline (irreversible MAO-B inhibitor), and moclobemide (reversible MAO-A inhibitor) were applied in the organ bath (10 μmol/L). MAO expression was assessed by immunohistochemistry. We found a constant impairment of EDR that has been significantly attenuated in the presence of the MAO-A and MAO-B inhibitors in both groups of coronary heart disease patients. MAO-B was the dominant isoform in all human diseased vessels. In conclusion, in vitro inhibition of MAO significantly improved EDR in human mammary arteries, regardless of the presence of diabetes. These data suggest that MAO inhibitors might be useful in restoring endothelial response in clinical conditions associated with increased oxidative stress, such as coronary artery disease and diabetes.

Background and Objectives: Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, 13, sex chromosomes aneuploidies and several microdeletions. This study aimed to assess the accuracy of cell free DNA testing based on low-level whole-genome sequencing to screen for these chromosomal abnormalities and to evaluate the clinical performance of NIPT. Materials and Methods: 380 consecutive cases from a single genetic center, from Western Romania were included in this retrospective study. Cell-free nucleic acid extraction from maternal blood, DNA sequencing and analysis of sequenced regions were performed by BGI Hong Kong and Invitae USA to determine the risk of specific fetal chromosomal abnormalities. In high-risk cases the results were checked by direct analysis of fetal cells obtained by invasive methods: 6 chorionic villus sampling and 10 amniocenteses followed by combinations of QF-PCR, karyotyping and aCGH. Results: NIPT results indicated low risk in 95.76% of cases and high risk in 4.23%. Seven aneuploidies and one microdeletion were confirmed, the other results were found to be a false-positive. A gestational age of up to 22 weeks had no influence on fetal fraction. There were no significant differences in fetal fraction across the high and low risk groups. Conclusions: This is the first study in Romania to report the NIPT results. The confirmation rate was higher for autosomal aneuploidies compared to sex chromosome aneuploidies and microdeletions. All cases at risk for trisomy 21 were confirmed. Only one large fetal microdeletion detected by NIPT has been confirmed. False positive NIPT results, not confirmed by invasive methods, led to the decision to continue the pregnancy. The main limitation of the study is the small number of patients included. NIPT can be used as a screening method for all pregnancies, but in high-risk cases, an invasive confirmation test was performed.

The present study reports the case of a 3‑h old male with a de novo unbalanced t(15;22) translocation and velo‑cardio‑facial syndrome (VCFS), with other abnormalities. The manifestations of the condition observed in the patient included cleft palate with feeding difficulties, respiratory infection, dysmorphic face with almond‑shaped eyes, a long and wide nose, small and low‑set ears, tetralogy of Fallot, cryptorchidism and varus equinus. Standard lymphocyte cytogenetic analysis using G‑banding demonstrated a 45,XY,‑22,der (15),t(15;22)(q26.2;q12) karyotype. Fluorescent in situ hybridization with DiGeorge/VCFS TUPLE 1 confirmed 22q11 deletions. These cytogenetic aspects appear to be rare in the etiology of VCFS, as >1% of all 22q11 deletions are the result of an unbalanced translocation, which involves chromosomes 22 and another chromosome. To the best of our knowledge, this is the second reported case where the clinical features associated with VCFS are combined with an unbalanced (15;22) translocation involving the critical 22q11.2 region.

Background and Objectives: Our study aimed to investigate the gross anatomy aspects of the fossa ovalis (FO) and the presence of some anatomical variation resulting from the incomplete fusion of septum primum and septum secundum, such as an atrial septal pouch (SP) and left atrial septal ridge. Materials and Methods: Thirty-one adult human hearts removed from formalin-fixed specimens were examined to provide information about the morphology of the FO. The organs were free of any gross anatomically visible pathological conditions. Results: The most common variants were the FO located in the inferior part of the interatrial septum (64.51%), circular (61.3%), with a net-like structure (51.62%), prominent limbus (93.55%), and patent foramen ovale (PFO) (25.8%). The right SP was observed in 9.67% of specimens, the left SP was observed in 29.03% of cases, and in 51.61% of cases, a double SP was observed. One sample presented a right SP and a double left SP, and one case showed a triple left SP, which was not reported previously to our knowledge. Conclusions: Knowledge of the interatrial septal anatomy becomes important for interventional cardiologists and should be documented before transeptal puncture.