Consanguinity is the marriage of two related persons. This type of marriage is one of the main pillars when it comes to recessive hereditary diseases, birth defects, infertility, miscarriages, abortion, and infant deaths. Intermarriage continues to be a common practice in various communities in North Africa, the Middle East, and West and South Asia, as well as among migrants from Europe and North America, even though in more and more countries it has become illegal. Even if security and stability are some of the motivations for consanguineous marriage, studies show that women often suffer physical and verbal abuse from their husbands. However, because of the blood bond, tolerance for these habits is much higher. In addition, it seems that the divorce rate is much lower because separation would affect the entire state of the family. The choice of partner is significantly influenced by variables such as limited access to education and financial resources. Illiterate people coming from poor rural areas are much more likely to choose consanguineous marriage to maintain wealth in the family. The lack of medical knowledge about the negative effects of consanguinity leads to an increased rate of abortions, infant deaths, and births of children with congenital birth defects. Today, because of the process of urbanization and increased levels of knowledge, the younger generation is becoming increasingly less receptive to this particular form of marriage. In addition, as education has become more accessible to women, they have become more independent and eager to fulfill their own goals and not the wishes of the family. In conclusion, contrary to the many apparent advantages of consanguineous marriage, partners should put genetic risks first, as medical problems bring with them increased costs in the medical system and also within the family, leading to even lower economic status and consequently perpetuation of this type of marriage.

Introduction: Natural killer (NK) cells are key anti-tumor effectors of the innate immunity. Phenotypic differences allow us to discriminate in between three functional stages of maturation, named immature, mature and hypermature that are distinctive in terms of receptor expression, cytokine secretion, cytotoxic properties and organ trafficking. NKs display an impressive repertoire of highly polymorphic germline encoded receptors that can be either activating, triggering the effector’s function, or inhibitory, limiting the immune response. In our study, we have investigated peripheral blood NK cells of acute myeloid leukemia (AML) patients.Methods: The Killer Immunoglobulin-like receptors (KIRs) and the HLA-C genotypes were assessed, as HLA-C molecules are cognate antigens for inhibitory KIRs.Results: The AA mainly inhibitory KIR haplotype was found in a higher proportion in AML, while a striking low frequency of the 2DS3 characterized the mainly activating Bx haplotype. Flow cytometry immunophenotyping evidenced a lower overall count of NK cells in AML versus healthy controls, with lower percentages of the immature and mature subpopulations, but with a markedly increase of the hypermature NKs. The analysis of the KIR2DL1, KIR2DL2, KIR2DL3, KIR3DL1, and NKG2A inhibitory receptors surface expression revealed a remarkable heterogeneity. However, an overall trend for a higher expression in AML patients could be noticed in all maturation subpopulations. Some of the AML patients with complex karyotypes or displaying a FLT3 gene mutation proved to be extreme outliers in terms of NK cells percentages or inhibitory receptors expression.Discussion: We conclude that while the genetic background investigation in AML offers important pieces of information regarding susceptibility to disease or prognosis, it is flow cytometry that is able to offer details of finesse in terms of NK numbers and phenotypes, necessary for an adequate individual evaluation of these patients.

(1) Background: Familial hypercholesterolemia (FH) is a genetic autosomal dominant disorder characterized by elevated levels of low-density lipoprotein cholesterol (LDL) that develops deposits of lipids in the arterial wall. Since it is underdiagnosed and undertreated, the disease has a high risk of premature cardiovascular disease and death. Patients are not always aware of the changes they should make in their diet. Thus, our study aimed to evaluate through a food frequency questionnaire their eating habits. (2) Methods: We included 70 patients with FH and 20 subjects in a control group that were evaluated through a physical examination and blood tests. They also completed a food frequency questionnaire. (3) Results: Throughout our study, we observed several aspects: regardless of age, patients with FH had higher carbohydrate intakes compared to the control group; from the same group, a positive correlation was observed between salami intake and the levels of glucose and glycated hemoglobin. Moreover, the sour cream preference was associated with higher liver function tests. In the control group, we observed a higher intake of pasta and fast food and fewer fruit portions. (4) Conclusions: As far as we know, this is the first study from Romania that evaluated the eating habits of patients diagnosed with FH. Our study reveals that, although patients with FH avoid junk food, they still have a high intake of carbohydrates when compared to the control group. Further research is needed in order to get a comprehensive nutritional evaluation of these patients.

(1) Background: Current guidelines emphasize the importance of regular moderate and/or high intensity aerobic exercises in cardiovascular disease prevention. Our study aimed to evaluate the utility of the International Physical Activity Questionnaire Long Form (IPAQ-L) for its physical activity (PA) quantification in patients with heart failure with reduced ejection fraction. (2) Methods: We conducted a cross-sectional study of 110 patients aged between 34 and 69 years admitted to the Cardiovascular Rehabilitation Clinic. All patients underwent a clinical examination, blood tests, a cycle ergometer exercise stress test and individual assessment of their weekly PA level using the IPAQ-L. (3) Results: Obesity, hypertension and type 2 diabetes were highly prevalent in our study group but did not influence the IPAQ-L results. In terms of physical performance, moderate intensity was the most common level of intensity found in our study group. Regarding the data on the relationship between the IPAQ-L questionnaire and cardiopulmonary exercise testing (CPET) parameters, vigorous PA was correlated with predicted maximal oxygen uptake (p = 0.025) and moderate PA, in addition to walking, were correlated with heart rate reserve (p = 0.005 and p = 0.009, respectively). (4) Conclusions: IPAQ-L can be used for the evaluation of individual PA levels within a cardiovascular rehabilitation program, but cannot substitute for the importance and utility of CPET.

(1) Background: Familial hypercholesterolemia (FH) is one of the most prevalent inherited metabolic disorders. The purpose of the study was to investigate the role in cardiovascular disease (CVD) of PAI-1, ACE, ApoB-100, MTHFR A1298C, and C677T. (2) Methods: From a group of 1499 patients, we included 52 patients diagnosed with FH phenotype and 17 patients in a control group. (3) Results: Most of the FH patients had multiple comorbidities compared to the control group, such as atherosclerosis (48.1% vs. 17.6%), atherosclerotic cardiovascular disease (ASCVD 32.7% vs. 11.8%), and metabolic syndrome (MetS, 40.4% vs. 11.8%). In total, 66.7% of the FH patients had PAI-1 4G/5G genotype and MetS. Between 4G/5G and 4G/4G, a statistically significant difference was observed (p = 0.013). FH patients with ApoB R3500Q polymorphism were correlated with ASCVD (p = 0.031). Both MTHFR C677T and A1298C polymorphisms had a significant correlation with gender, alcohol consumption, and smoking status. ACE polymorphism was associated with ATS in FH patients, statistically significant differences being observed between heterozygous and homozygous D genotype (p = 0.036) as well as between heterozygous and homozygous I genotype (p = 0.021). (4) Conclusions: A link between these polymorphisms was demonstrated in the FH group for ATS, ASCVD, and MetS.

(1) Background: Down syndrome is characterized by physical abnormalities, intellectual disability (ID), and specific patterns of other health issues. Additionally, individuals with DS are known to experience premature aging and early onset of certain age-related medical conditions. These conditions are linked to higher incident disability and reduced survival rates compared to the general population. (2) Methods: Between July 2022 and February 2024, we conducted a prospective, observational study in the Cardiovascular Rehabilitation Clinic at Iasi Clinical Rehabilitation Hospital. The study included 28 patients diagnosed with Down Syndrome and a control group. Interdisciplinary interventions were tailored to address the needs of a complex patient, incorporating cardiological, endocrinological, genetical, biological and developmental support. Data on physical health, cognitive development, and psychosocial well-being were collected. (3) Results: Our DS group consisted of 11 (39%) females and 17 (61%) males. Their age ranged from 20 to 55 years with a mean of 28.07 ± 9.51. All patients were unmarried, living in urban areas, without a partner but with family support. In the study sample, 96.4% of participants had three or more comorbidities. (4) Conclusions: The high prevalence of multimorbidity, combined with little medication, contributes to a high level of clinical complexity, which appears to be similar to the one of the older non-trisomic population. As individuals with Down syndrome transition into adulthood, they may require a more comprehensive and holistic approach to their healthcare.