Identification of Lynch syndrome risk variants in the Romanian population.

Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively. No information is available on the presence of high-risk CRC mutations in the Romanian population. We performed whole-genome sequencing of 61 Romanian CRC cases with a family history of cancer and/or early onset of disease, focusing the analysis on candidate variants in the LS and FAP genes. The frequencies of all candidate variants were assessed in a cohort of 688 CRC cases and 4567 controls. Immunohistochemical (IHC) staining for MLH1, MSH2, MSH6, and PMS2 was performed on tumour tissue. We identified 11 candidate variants in 11 cases; six variants in MLH1, one in MSH6, one in PMS2, and three in APC. Combining information on the predicted impact of the variants on the proteins, IHC results and previous reports, we found three novel pathogenic variants (MLH1:p.Lys84ThrfsTer4, MLH1:p.Ala586CysfsTer7, PMS2:p.Arg211ThrfsTer38), and two novel variants that are unlikely to be pathogenic. Also, we confirmed three previously published pathogenic LS variants and suggest to reclassify a previously reported variant of uncertain significance to pathogenic (MLH1:c.1559-1G>C).

Validity and reliability of the Romanian version of the Hill-Bone compliance to high blood pressure therapy scale.

Romania is considered a country with high cardiovascular risk, arterial hypertension and its complications accounting for about 60% of total deaths. The management of high blood pressure often involves a combination of both therapeutic regimens as well as lifestyle changes, to which patients have to be adherent. In order to assess patients adherence to professionals' recommendations, validated tools are needed. The aim of our study was to translate, culturally adapt and validate the Hill-Bone Compliance to High Blood Pressure Therapy Scale into Romanian. The study included 215 participants from Iasi, North-Eastern Romania. The internal consistency of the instrument was measured with Cronbach's alpha coefficient, while the construct validity was determined using exploratory factor analysis and principal component extraction with promax rotation. Sampling adequacy and appropriateness of data for factor analysis was measured using Kaiser-Meyer-Olkin (KMO) statistics and Bartlett's test of sphericity. Our statistical analysis revealed a Cronbach's alpha coefficient of 0.733 (73.3%) and a Kaiser-Meyer-Olkin (KMO) Measure of Sampling Adequacy of 0.697. The chi square test demonstrated that the overall perfect adherence was not significantly associated with the number of medications taken per day variable (p = 0.721). The Romanian version of the Hill-Bone Compliance to High Blood Pressure Therapy Scale demonstrated suitability for its use in evaluating adherence in the intended population.

SGLT2 Inhibitor: an Emerging Pillar in Heart Failure Therapeutics?

Heart failure (HF) is a worldwide pandemic that affects at least 26 million people and is becoming more prevalent. Heart failure health expenditures are substantial and will considerably increase with population aging. Newer medications for treating type 2 diabetes include sodium-glucose cotransporter-2 inhibitors (SGLT2). Recent clinical studies and research have shown the efficacy of this class in treating heart failure by lowering the risk of cardiovascular events, hospitalization, and mortality. In addition, there is undeniable evidence that SGLT2 inhibitors have a beneficial effect on metabolic function, even though the mechanisms responsible for these drugs' practical consequences have not been completely elucidated. In this narrative review, we discuss the effects of SGLT2 inhibitors on the provision of cardiac energy by ketone bodies, pathological remodeling of the ventricle, arterial stiffness, and inflammation in patients with HF.

Evaluation of histophysiological alterations associated with ketoprofen administration in albino NMRI mice.

The aim of this study was to investigate the changes caused by the administration of ketoprofen to albino NMRI mice on some hematological, biochemical, and structural parameters. For this purpose, the mice were divided into two lots: a control batch and an experimental batch to which ketoprofen was administered subcutaneously at a dose of 10 mg/kg body weight per day for 7 days. A decrease in erythrocyte number and hemoglobin was observed altogether with the increase in white blood cells. Blood biochemistry indicates increased blood glucose, cholesterol, and triglyceride levels. Enzyme values (AST, ALT, and ALP) show a significant increase. Hepatic pathology reveals the enlargement of sinusoidal capillaries, the presence of leukocyte infiltrates associated with necrosis zones.

Diabetic foot - epidemiological and histopathological aspects.

Our study included a total of 259 patients with diabetes, who were admitted to the Department of Plastic Surgery and Reconstructive Microsurgery of the Emergency County Hospital of Pitesti, Romania, in 2016, with the diagnosis of "diabetic foot". Of the 259 patients, 55 (21.23%) were diagnosed with type 1 diabetes, and the remaining 204 (78.77%) were diagnosed with type 2 diabetes; the ratio of type 1∕type 2 diabetes was 1∕3.7. The injuries presented by the patients were osteitis (27.81%), moist gangrene (21.62%), abscesses (18.92%), cellulitis (11.19%), various forms of fasciitis (8.88%), perforating strand (6.18%), and dry gangrene (5.4%). The disease was most commonly diagnosed in males in the rural environment. Most of the patients were in the age group of 61-70 years old. All patients were surgically treated, but 142 (54.82%) patients needed amputations of foot segments (fingers, metatarsal or tarsal bones). The histopathological and immunohistochemical study on excised fragments revealed the existence of a chronic inflammatory process formed mainly from macrophages, mast cells and CD4+ T-lymphocytes.