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Nikolaos Vrachnis - Top 30 Publications

Platelet glycoprotein receptors gene polymorphisms are associated with increased risk of late spontaneous abortions.

7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case.

Holoprosencephaly (HPE) spectrum disorder is the most common congenital malformation of the human brain with absence of or incomplete midline cleavage. Its cause is heterogenic, making genetic counseling a challenge. In this case report, a pregnancy affected by alobar HPE is described. Using aCGH, an 8.9-Mb deletion at 7q36.1q36.3 together with a 4.9-Mb duplication at 12q24.32q24.33 is assumed to be the possible reason for this alobar HPE case. It is discussed that disruption of key elements of the developing brain, taking environmental factors into account, contributes to the HPE spectrum. The use of aCGH for invasive prenatal testing is starting to become the standard technique, providing accurate information about the cause of congenital diseases for couples receiving genetic counseling.

In pregnancy increased maternal STAI trait stress score shows decreased insulin sensitivity and increased stress hormones.

Chronic or acute stressors influence maternal and fetal Hypothalamus-Pituitary-Adrenal Axes (HPA) during pregnancy. In this study, the effect of maternal stress into maternal insulin sensitivity was investigated during pregnancy.

Associations of combined polymorphisms of the platelet membrane glycoproteins Ia and IIIa and the platelet-endothelial cell adhesion molecule-1 and P-Selectin genes with IVF implantation failures.

The aim of the study was to investigate the combined impact of the genetic heterogeneity of the glycoproteins Ia (GpIa) and IIIa (GpIIIa) and the platelet-endothelial cell adhesion molecule-1 (PECAM-1) and P-Selectin genes on IVF embryo transfer implantation failures (IVF-ET failures). Sixty nulligravida women with previous IVF-ET failures and 60 fertile controls were genotyped for the GpIa-C807T, GpIIIa-PlA1/PA2, PECAM-1-C373G (Leu125Val) and P-Selectin-A37674C (Thr715Pro) polymorphisms by pyrosequencing. Compared with wild-type combined homozygotes, carriers of combinations of risk alleles in two gene loci were at significantly increased risk for IVF-ET failure, whereas carriers of the combination of GpIa-807T, GpIIIa-PlA2 and PECAM-1-373G alleles had OR = 52.50 (95%CI: 4.05-680.95, p < .001). The area under the receiver-operating characteristic curve (AUC) based on the number of polymorphisms and the number of risk alleles per subject was 75.4% (95%CI: 66.7%-82.8%, p < .001) and 72.5% (95%CI: 63.6%-80.3%, p < .001), respectively. The OR per polymorphism and risk allele increase was 4.26 (95%CI: 2.15-8.41, p < .001) and 2.85 (95%CI: 1.71-4.76, p < .001), respectively. The above associations were more robust among younger women. The combined analysis of these polymorphisms revealed strong association of combined carriers with IVF-ET failures especially for younger women and provided a genetic risk score with good diagnostic accuracy in the prediction of IVF-ET failures.

Genetic heterogeneity of platelet glycoproteins Ia and IIIa and the risk of spontaneous miscarriages.

The aim of this study was to investigate the association between the genetic heterogeneity of platelet glycoproteins Ia (GpIa-C807T) and IIIa (GpIIIa-PlA1/PlA2) and spontaneous abortions.

Primary peritoneal cancer in BRCA carriers after prophylactic bilateral salpingo-oophorectomy.

The presence of deleterious mutations in breast cancer (BRCA)-1 or BRCA-2 gene has a decisive influence on the development of various types of neoplasms, such as breast, ovarian, tubal, and peritoneal cancers. Primary peritoneal cancer is an aggressive malignancy which, due to the absence of a specific screening test, cannot be diagnosed in its early stages. As a risk-reducing option, prophylactic bilateral salpingo-oophorectomy and mastectomy are often proposed in BRCA gene carriers. The effectiveness of a preventive surgical treatment is, however, unclear in the development of peritoneal cancer.

The PlA2 variant of the platelet glycoprotein IIIa as a genetic risk factor for IVF implantation failure: accumulating evidence.

Diabetes mellitus and gynecologic cancer: molecular mechanisms, epidemiological, clinical and prognostic perspectives.

Diabetes mellitus, the prevalence of which has increased dramatically worldwide, may put patients at a higher risk of cancer. The aim of our study is the clarification of the possible mechanisms linking diabetes mellitus and gynecological cancer and their epidemiological relationship.

Changes in Simple Spirometric Parameters After Lobectomy for Bronchial Carcinoma.

The purpose of this study was to describe the postoperative changes in lung function after pure open lobectomy for lung carcinoma.

Downregulation of notch signaling pathway in late preterm and term placentas from pregnancies complicated by preeclampsia.

Preeclampsia (PE) is a major cause of maternal mortality and morbidity, affecting 3-5% of all pregnancies. The Notch signaling pathway plays an important role during placental development, activating several target genes. Defects in the Notch pathway have adverse effect on placentation. The aim of this study was to investigate the expression of receptors NOTCH1,-2,-3,-4, ligands DLL1,-3,-4, JAG1,-2 and target genes HEY1,-2 in placental tissue samples from 20 late preterm or term pregnancies complicated by PE versus 20 normal pregnancies. mRNA levels of the studied molecules were measured by quantitative Real-Time PCR (qRT-PCR), while the protein expression of the intracellular domain of NOTCH2 (NICD2) and NOTCH3 (NICD3) was measured by Western Blot (WB). qRT-PCR analysis revealed that NOTCH1, NOTCH4 and DLL1 were not expressed in the placenta. On the contrary, NOTCH2, NOTCH3, DLL3, DLL4, JAG1, JAG2, HEY1 and HEY2 mRNA levels were downregulated in PE samples vs. controls (p<0.01). WB confirmed that NICD2 (p = 0.014) and NICD3 (p<0.001) protein levels were also lower in PE specimens. Statistical analysis revealed several significant associations: of NOTCH3 mRNA expression with smoking during pregnancy (p = 0.029), of NICD3 protein levels (p = 0.028) and DLL3 mRNA levels (p = 0.041) with birth weight centile, and of HEY2 transcript levels with parity (p = 0.034) and mode of delivery (p = 0.028). Our results suggest that Notch pathway downregulation is associated with PE. Further studies are required in order to determine the role of these molecules in PE pathogenesis and to evaluate their potential use for the early detection and treatment of PE.

Birth rates by maternal age in Greece: background, trends and future perspectives.

Letter to the editor--Homicides in Greece: trends and features.

Use of hemoglobin A1c as an early predictor of gestational diabetes mellitus.

Guidelines on cervical and breast cancer screening in Greece.

Maternal mortality estimates.

Comparison of tumor markers and inflammatory biomarkers in chronic obstructive pulmonary disease (COPD) exacerbations.

The aim of the present study was: (a) to measure levels of the tumor markers, Carcinoembryonic antigen (CEA), Cancer antigen 19-9 (CA19-9), Cancer antigen 125 (CA125), Neuron specific enolase (NSE) and Cytokeratin fragments 19 (CYFRA21-1); (b) to investigate any correlation between them and the inflammatory biomarkers C-reactive protein (CRP), Erythrocyte sedimentation rate (ESR) and white blood cells count (WBC), in patients with chronic obstructive pulmonary disease (COPD) exacerbation, who belong in groups of severity C and D, as classified by the Global Initiative for Chronic Obstructive Lung Disease (GOLD); (c) and finally, to compare these results in these two groups.

An emerging crisis in Greece's medical research output.

The Janus face of maternal serum relaxin: a facilitator of birth, might it also induce preterm birth?

Preterm birth is a major cause of neonatal morbidity and mortality in the developed world. In order to better understand the pathophysiological pathway of this condition, the role of genetic factors and/or inflammation-associated molecules, as well as of socioeconomic parameters, is therefore under intense investigation. The purpose of this review study was to examine the potential role of maternal serum relaxin levels in the etiology of preterm birth.

Cancer mortality in Greece during the financial crisis.

Cardiovascular mortality and the financial crisis in Greece: trends and outlook.

DNA sequencing versus standard prenatal aneuploidy screening.

Greece's economic crisis and suicide rates: overview and outlook.

Research output: Greek science must reform to survive.

Probing the impact of sex steroids and menopause-related sex steroid deprivation on modulation of immune senescence.

Immune senescence denotes the general decline in immune system function, characterized by a reduced immune response and an increased inflammatory state. Menopause is a natural change in a women's life, the menopause-related low estrogen levels affecting many body functions, among them the immune system. Numerous human studies with menopausal women and animal models with surgically induced menopause show a clear impact of sex steroids in immune responses. Female superiority in vaccination response and predisposition to infections are eliminated after menopause, while during menopause inflammatory cytokines such as Tumor Necrosis Factor-α (TNF-α), Interleukins-1β, 6, 8 and 13 (IL-1β, IL-6, IL-8, IL-13) and Monocyte Chemoattractant Protein-1 (MCP-1) are increased, implying a molecular connection of sex steroid loss with immune senescence. Moreover, immune cells modify their number and function after the menopausal transition, this offering another explanation for immune senescence. Until now most of the existing studies have concluded that menopause plays an additional role to aging in immune senescence. While it is clear that we are as yet far from thoroughly understanding the molecular pathways connecting sex steroids and menopause with immune senescence, such knowledge is highly likely to enable future targeted interventions in treatment and prevention of age-related diseases in women.

Early recurrence of early stage endometrioid endometrial carcinoma: possible etiologic pathways and management options.

The majority of endometrial cancers is early stage and of the endometrioid histological type, as the symptoms (mainly vaginal bleeding) of the disease lead to an early diagnosis. Close follow-up is nevertheless essential in such cancers staged early on, in which the rate of recurrence is relatively low. We retrieved the studies included in our narrative review after performing a systematic electronic search in the PubMed, Scopus and Cochrane databases. The incidence or recurrence of disease in such patients could be up to 2.6%, with the main sites of recurrence being the vaginal vault or metastases in distant parts of the body. Genetic factors such as p53 overexpression, inactivation of 14-3-3-sigma, KRAS amplification and KRAS mRNA expression, microsatellite instability and Lynch syndrome genes could be associated with such a recurrence. Black race is also correlated, as well as lymphovascular space involvement, lower uterine segment involvement and DNA aneuploidy. Longer hysteroscopy duration was not found to be associated. Close follow-up is suggested for early detection of recurrences, while surgical excision of isolated disease or exenteration of local disease as well as radiotherapy and chemotherapy are the main treatment options. This narrative review investigated the possible mechanisms of early recurrence in patients with endometrioid endometrial cancer as well as the further management of them.

Variant GADL1 and response to lithium in bipolar I disorder.

Zooming in on the definition of 'recurrent implantation failure'.

Austerity and health in Greece.

Dilemmas in the management of patients with vulval epithelioid sarcoma: a literature review.

Vulval sarcomas are an extremely rare type of soft tissue tumor, the principal properties of which are unpredictable symptoms and frequent recurrences. This review discusses the management options specific for cases of vulval epithelioid sarcoma. The PubMed, Scopus and Cochrane databases were systematically searched and 28 studies met the inclusion criteria for our narrative review. The mean age of the 31 included patients was 31 years (range: 17-84). Local excision (19 out of 31, 61.3%), radical vulvectomy (8 out of 31, 25.8%) and hemivulvectomy (4 out of 31, 12.9%) were the principal surgical treatments. Radiotherapy and chemotherapy were performed in 8 and 5 patients, respectively. Recurrence of the disease was present in 13 out of 31 (42%). The interval to recurrence ranged from 1 to 48 months. The main location of recurrences was the local tissues, the lymph nodes and the lung. The mean period of follow-up was 38.5 months (range: 2-146 months). Cure was considered to have taken place in 19 out of 31 (61.3%) patients; 10 out of 31 (32.6%) died, and 2 out of 31 (6.4%) at the end of follow-up were alive but not considered cured. The first and principal step for the proper treatment of vulval epithelioid sarcomas is awareness of their existence by the specialist involved. Extensive imaging is proposed for staging, while the creation of a national or international register of patients with this malignancy would enable a more consistent approach to its management.

Assessment of labor using a new type partogram compared to the classical Fisher partogram.

To assess the quality of a new type partogram used to monitor labor.