Increased mRNA expression for serotonin receptor 1B (HTR1B) is associated with thrombosis in BCR::ABL1-negative myeloproliferative neoplasms.

BCR::ABL1-negative myeloproliferative neoplasms (MPNs) are clonal haematopoietic stem cell disorders characterized by specific driver mutations and an increased risk of both macrothrombosis and microthrombosis. Serotonin receptor type 1B (HTR1B) was found to be expressed by various solid tumours, and also primary bone marrow mononuclear cells from myelodysplastic neoplasm and acute myeloid leukaemia patients, representing a potential therapeutic target. In this study we assessed for the first time the expression levels of HTR1B mRNA in the peripheral blood mononuclear cells (PBMC) of 85 newly diagnosed MPN patients, consisting of 28 polycythemia vera, 25 essential thrombocythemia and 32 primary myelofibrosis cases.

Exploring the Role of E6 and E7 Oncoproteins in Cervical Oncogenesis through MBD2/3-NuRD Complex Chromatin Remodeling.

Background: Cervical cancer is among the highest-ranking types of cancer worldwide, with human papillomavirus (HPV) as the agent driving the malignant process. One aspect of the infection's evolution is given by epigenetic modifications, mainly DNA methylation and chromatin alteration. These processes are guided by several chromatin remodeling complexes, including NuRD.

Leukemic conversion involving mutations of type 1 -mutated primary myelofibrosis in a patient treated for HCV cirrhosis: a case report.

Somatic frameshift mutations in exon 9 of calreticulin () gene are recognized as disease drivers in primary myelofibrosis (PMF), one of the three classical Philadelphia-negative myeloproliferative neoplasms (MPNs). Type 1/type 1-like mutations particularly confer a favorable prognostic and survival advantage in PMF patients. We report an unusual case of PMF incidentally diagnosed in a 68-year-old woman known with hepatitis C virus (HCV) cirrhosis who developed a progressive painful splenomegaly, without anomalies in blood cell counts.

Cumulative Effect Assessment of Common Genetic Variants on Prostate Cancer: Preliminary Studies.

Single nucleotide polymorphisms (SNPs) are the most common type of genetic variation among people. Genome Wide Association studies (GWASs) have generated multiple genetic variants associated with prostate cancer (PC) risk. Taking into account previously identified genetic susceptibility variants, the purpose of our study was to determine the cumulative association between four common SNPs and the overall PC risk.

Role of ProEx C immunocytochemistry in cervical high-grade squamous intraepithelial lesions detection.

Background: Screening programs using Papanicolaou smear along with human papillomavirus (HPV) testing led to a significantly decrease of cervical cancer rates. Nevertheless, both assessments have limited specificity for revealing cervical high-grade lesions. The main problem is how to identify the real precursor of cervical squamous cell carcinomas (SCC), namely high-grade squamous intraepithelial lesions (HSIL).

Genetic variant located on chromosome 17p12 contributes to prostate cancer onset and biochemical recurrence.

The genetic contribution to prostate cancer (PC) onset and clinical heterogeneity has an important impact on the disease stratification accuracy. Despite the fact that radical prostatectomy (RP) is an effective treatment for localized PC, a considerable number of individuals develop biochemical recurrence (BCR) following surgery. In the present study, we decided to investigate the significance of genetic variability in a homogeneous group of Romanian men and to determine if genotyping could provide information regarding the possible implications of rs4054823 susceptibility loci in PC progression and outcome.

The association between lncRNA H19 and EZH2 expression in patients with EBV-positive laryngeal carcinoma.

Objective: Laryngeal cancer is the second most common malignancy in the head and neck, with Epstein-Barr virus infection as a risk factor. Our aim is to evaluate correlations between the expression of lncRNA H19 and EBV infection in laryngeal cancer and H19 involvement in neoplastic progression through EZH2 association.

Materials And Methods: 30 paired laryngeal tissue specimens (neoplastic and non-neoplastic) were included in the study.

Epigenetic approaches for cervical neoplasia screening (Review).

Human papillomavirus (HPV) infection is the leading cause of cervical cancer. The Papanicolaou cytology test is the usually employed type of screening for this infection; however, its sensibility is limited. Only a small percentage of women infected with high-risk HPV develop cervical cancer with an array of genetic and epigenetic modifications.

Alterations of regulatory factors and DNA methylation pattern in thyroid cancer.

Purpose: DNA methylation plays an important role in thyroid oncogenesis. The aim of this study was to investigate the connection between global and local DNA methylation status and to establish the levels of important DNA methylation regulators (TET family and DNMT1) in thyroid tumours: follicular adenoma-FA, papillary thyroid carcinoma-PTC (classic papillary thyroid carcinoma-cPTC and papillary thyroid carcinoma follicular variant fvPTC).

Methods: Global DNA methylation profile in thyroid tumours tissue (41 paired samples) was assessed by 5-methylcytosine and 5-hydroxymethylcytosine levels evaluation (ELISA), along with TETs and DNMT1 genes expression quantification.

Single-Center Experience With Epigenetic Treatment for Juvenile Myelomonocytic Leukemia.

Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative neoplasm diagnosed in young children, characterized by somatic or germline mutations that lead to hyperactive RAS signaling. The only curative option is hematopoietic stem cell transplantation (HSCT). Recent data showing that aberrant DNA methylation plays a significant role in pathogenesis and correlates with clinical risk suggest a possible benefit of hypomethylating agents (HMA) in JMML treatment.

High-risk human papillomaviruses distribution in Romanian women with negative cytology.

Introduction: Romania has the highest incidence and mortality rate of cervical cancer in Europe. The objective was to estimate the prevalence of high-risk human papillomavirus (hrHPV) genotypes and to evaluate the role of certain socio-behavioral factors in acquiring viral infection, in a cohort of Romanian women with negative Pap.

Methodology: In a prevalence study 611 women (aged 17-58 years) with negative Pap, with no known history of atypical cytology and valid HPV test were included.

FACTORS ASSOCIATED WITH PERSISTENCE OF HPV GENITAL INFECTION IN A SMALL COHORT OF ROMANIAN WOMEN.

The aim of the study was to assess the role of behavioral factors in persistence of human papillomavirus (HPV) genital infection. Out of a cohort of 605 women included in a study of HPV infection prevalence, 142 HPV positive women (aged 18-57) were retested after a 12-month interval. None of the patients underwent surgical treatment during that period.

Inflammation-Related Patterns in the Clinical Staging and Severity Assessment of Chronic Kidney Disease.

Chronic kidney disease (CKD) is an irreversible loss of kidney function, and it represents a major global public health burden due to both its prevalence and its continuously increasing incidence. Mineral bone disorders (MBDs) constitute a hallmark of CKD, and alongside cardiovascular complications, they underlie a poor prognosis for these patients. Thus, our study focused on novel CKD biomarker patterns and their impact on the clinical staging of the disease.

Methylation of tumour suppressor genes associated with thyroid cancer.

Background: Thyroid carcinoma is the most common endocrine malignancy worldwide. Changes in DNA methylation can cause silencing of normally active genes, especially tumour suppressor genes (TSG) or activation of normally silent genes.

Objective: The aim of this study is to evaluate the degree of promoter methylation for a panel of markers for thyroid neoplasms and to establish their relationship with thyroid oncogenesis.

Human papillomaviruses' proteins with clinical utility.

Cervical cancer, the fourth leading cause of cancer-associated deaths among women worldwide, is associated with human papilloma virus (HPV) infection. Despite the prophylactic HPV vaccination and the implementation of cervical and HPV-based screening programs, a significant increase in cervical cancer incidence is estimated by the year 2020. Thus, further development of diagnostic tools that allow detection and risk assesment in genital HPV infection is necessary.

Inflammation-Related Mechanisms in Chronic Kidney Disease Prediction, Progression, and Outcome.

Persistent, low-grade inflammation is now considered a hallmark feature of chronic kidney disease (CKD), being involved in the development of all-cause mortality of these patients. Although substantial improvements have been made in clinical care, CKD remains a major public health burden, affecting 10-15% of the population, and its prevalence is constantly growing. Due to its insidious nature, CKD is rarely diagnosed in early stages, and once developed, its progression is unfortunately irreversible.

LINC01101 and LINC00277 expression levels as novel factors in HPV-induced cervical neoplasia.

Recently long non-coding RNAs were identified as new factors involved in gene expression regulation. To gain insight into expression pattern of these factors related to E7 HPV18 oncogene, this study uses HeLa cell culture transfected with E7-siRNA. Gene expression profile was investigated using microarray analysis.

Viral serological and molecular data on possible involvement of herpes viruses in periodontal disease.

Background: Recent studies have suggested that latent herpes virus infections can be associated with chronic periodontal sites that exhibit a predisposition to disease progression. The aim of this study was to identify the possible relationship between infections with CMV and EBV and the severity of periodontal disease.

Materials And Methods: Fifty two patients aged between 27 and 70 years, diagnosed with periodontal disease were enrolled in the study after giving informed consent.

Immunoassay and molecular methods to investigate DNA methylation changes in peripheral blood mononuclear cells in HIV infected patients on cART.

This study aimed to investigate the influence of antiretroviral therapy on methylation markers, in a group of HIV infected, heavily treated patients. Immune and molecular methods were used to investigate potential changes in methylation profile in DNA isolated from peripheral blood mononuclear cells collected from antiretroviral-experienced HIV infected patients and healthy controls. The percentage of 5-methylcytosine was inversely correlated with proviral DNA and active replication while DNMT1 (p = 0.

Proteomic Biomarkers Panel: New Insights in Chronic Kidney Disease.

Chronic kidney disease, despite being a "silent epidemic" disease, represents one of the main causes of mortality in general population, along with cardiovascular disease, which is the leading cause of poor prognosis for these patients. The specific objective of our study was to characterize the relationship between the inflammatory status, the bone disorders markers, and kidney failure in chronic kidney disease patient stages 2-4, in order to design a novel biomarker panel that improves early disease diagnosis and therapeutic response, thus being further integrated into clinical applications. A panel of proteomic biomarkers, assessed by xMAP array, which includes mediators of inflammation (IL-6, TNF-) and mineral and bone disorder biomarkers (OPG, OPN, OCN, FGF-23, and Fetuin-A), was found to be more relevant than a single biomarker to detect early CKD stages.

miR-29a associates with viro-immunological markers of HIV infection in treatment experienced patients.

MicroRNAs (miRNAs) are small, non-coding RNA species essential for the post-translational regulation of gene expression. Several miRNA have been proposed to contribute to Human immunodeficiency virus-1 (HIV-1) infection establishment, progression and latency. Among them, miR-29a seems to be of particular interest.

THE PERFORMANCE OF A RAPID TEST FOR ANTI-HCV SCREENING IN ORAL FLUIDS.

Unlabelled: Gingival crevicular fluid (GCF) and saliva samples provide advantages for screening or sero-prevalence studies on HCV using less invasive methods. The study aimed to evaluate the performance of a rapid test for HCV-antibodies (HCV-Ab) screening in oral fluids among high-risk individuals with chronic liver disease.

Methods: Chronic liver disease patients attending at the Matei Bals National Instiute for Infectious Diseases were recruited for this study.

E5HPV16 mRNA EXPRESSION PATTERN ANALYSIS IN PATIENTS WITH CERVICAL LESIONS IN VIRAL STATUS CONTEXT.

Human papilloma virus (HPV) may cause mostly transient infections of cutaneous and mucous epithelia. Persistent HPV genital infections may induce pre-malignant or malignant lesions. While E6 and E7 HPV genes' malignant character is known, E5 is still under debate.

Comparative molecular approaches in Prader-Willi syndrome diagnosis.

Prader-Willi and Angelman syndromes are two distinct neurogenetic disorders caused by chromosomal deletions, uniparental disomy or loss of the imprinted gene expression in the 15q11-q13 region. PWS results from the lack of the paternally expressed gene contribution in the region. The aim of our study was to compare a new molecular approach based on the quantification of the expression of non-imprinted bi-allelic gene (NIPA1 and OCA2) with in house MS-PCR and the MS-MLPA test.