Blood molybdenum level as a marker of cancer risk on BRCA1 carriers.

Objective: To investigate whether Molybdenum blood level is a marker of cancer risk on BRCA1 carriers.

Methods: A prospective cohort study was conducted among 989 initially unaffected women with a BRCA1 mutation. Blood samples were collected to measure molybdenum levels, and participants were followed for an average of 7.

Antioxidant Properties of Zinc and Copper-Blood Zinc-to Copper-Ratio as a Marker of Cancer Risk BRCA1 Mutation Carriers.

Pathogenic mutations in BRCA1 (BReast CAncer gene 1) confer high risks of both breast (up to 70%) and ovarian (up to 40%) cancers. Zinc (Zn) and copper (Cu) are essential for various physiological functions, including antioxidant reactions. Their balance, reflected in the Zn/Cu ratio, plays a crucial role in maintaining redox homeostasis, which is vital for cancer prevention.

Blood Iodine as a Potential Marker of the Risk of Cancer in BRCA1 Carriers.

Breast cancer and ovarian cancer pose a significant risk for BRCA1 carriers, with limited risk-reduction strategies. While improved screening helps in the early detection of breast cancer, preventive measures remain elusive. Emerging evidence suggests a potential link between iodine levels and modulation of cancer risk, but comprehensive studies are scarce.

Zinc and Its Antioxidant Properties: The Potential Use of Blood Zinc Levels as a Marker of Cancer Risk in BRCA1 Mutation Carriers.

BRCA1 mutations predispose women to breast and ovarian cancer. The anticancer effect of zinc is typically linked to its antioxidant abilities and protecting cells against oxidative stress. Zinc regulates key processes in cancer development, including DNA repair, gene expression, and apoptosis.

Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland.

Background: Mutations in BRCA1 and BRCA2 genes are well-established risk factors of breast and ovarian cancer. In our former study, we observed that approximately 6% of unselected ovarian cancer patients in the region of Podkarpacie (South-East Poland) carry BRCA1 causative founder variants, which is significantly lower than in other regions of Poland. Therefore, it is deeply justified to do research based on the sequencing of whole BRCA1 and BRCA2 genes.

Case-control study analysis of DRD2 gene polymorphisms in drug addicted patients.

Objectives: The aim of the study was to determine relationships between the selected DRD2 gene polymorphisms and drug addiction.

Methods: One hundred drug abusers undergoing treatment were recruited from the inpatient psychiatric centers in Poland. All participants were screened by means of the clinical interview SSAGA to describe the clinical picture.

Frequency of and causative founder variants in ovarian cancer patients in South-East Poland.

Background: Causative variants in and are well-established risk factors for breast and ovarian cancer. In Poland, the causative founder variants in the are responsible for a significant proportion of ovarian cancer cases, however, regional differences in the frequencies of various mutations may exist. The spectrum and frequency of mutations between ovarian cancer patients have not yet been studied in the region of South-East Poland.

Analysis of the Relationship between Estradiol and Follicle-Stimulating Hormone Concentrations and Polymorphisms of Apolipoprotein E and LeptinGenes in Women Post-Menopause.

Background: Menopause is the permanent cessation of menstruation due to loss of ovarian follicular activity. A review of the available literature indicates that correlations between the changes that take place in a woman's body after menopause and different genetic variants are still being sought.

Methods: The study was conducted in 252 women who had completed physiological menopause.

Case control study of ANKK1 Taq 1A polymorphism in patients with alcohol dependence classified according to Lesch's typology.

Objective: The aim of this study was to examine the association between the Taq 1A polymorphism of the ANKK1 gene in homogeneous subgroups of patients with alcohol dependence syndrome divided according to Lesch's typology.

Material/methods: DNA was provided from alcohol-dependent (AD) patients (n = 373) and healthy control subjects (n = 168), all of Polish descent. The history of alcoholism was obtained using the Polish version of the SSAGA (Semi-Structured Assessment for the Genetics of Alcoholism).

Functional polymorphism of matrix metalloproteinase-9 (MMP9) gene is not associated with schizophrenia and with its deficit subtype.

Background: The deficit subtype of schizophrenia is hypothesized to constitute a pathophysiologically distinct subgroup of schizophrenia patients suffering from enduring, idiopathic negative symptoms and various neuropsychological deficits. Matrix metalloproteinases (MMPs) are extracellularly acting endopeptidases the substrates of which are matrix and adhesion molecules. Recently, MMP9 has been shown to be involved in various forms of synaptic plasticity, learning and memory consolidation.

DAT1 methylation changes in alcohol-dependent individuals vs. controls.

Introduction: The dopaminergic system plays a crucial role in the development of alcohol dependence. Regulation of the extracellular dopamine concentration is driven by dopamine transporter. Both, the expression and function of dopamine transporter, are influenced by chronic alcohol intake.

Monoamine oxidase a promoter variable number of tandem repeats (MAOA-uVNTR) in alcoholics according to Lesch typology.

Background: The aim of this study was to examine the association between the MAOA-uVNTR gene polymorphism in a homogeneous subgroups of patients with alcohol dependence categorized according to Lesch's typology.

Methods: DNA was provided from alcohol dependent (AD) patients (n=370) and healthy control subjects (n=168) all of Polish descent. The history of alcoholism was obtained using the Polish version of the Semi-Structured Assessment for the Genetics of Alcoholism (SSAGA).

Association and family studies of DRD2 gene polymorphisms in alcohol dependence syndrome.

Introduction: The human dopamine receptor 2 gene DRD2 plays a central role in susceptibility to Alcohol Dependence Syndrome (ADS). The aim of this study was to evaluate 3 single nucleotide polymorphisms: D2 (rs1076560), Tag1D (rs1800498), Tag1B (rs1079597) located in dopamine receptor 2 DRD2 gene and its role in alcohol dependence.

Material And Methods: DNA was provided from alcohol dependent (AD) patients (n=171) and healthy control subjects (n=160) all of Polish descent.

[The analysis of the polymorphic variations of the dopamine gen transporter (DAT1) and the serotonin transporter (5-HTTLPR) in patients with alcohol dependence syndrome with inclusion of the phenotypic feature of sweet liking preference].

Objectives: The purpose of this study was to determine the relationship between sweet-liking phenotype and the variation of the gene sequence of the dopaminergic and serotonergic system.

Methods: The study recruited 100 probands. The participants were interviewed for addiction (SSAGA-Semi Structured Assessment for the Genetics of Alcoholism) and assessed with the questionnaires: MMSE, Beck Depression Inventory and Hamilton Anxiety, Snaith-Hamilton Pleasure Scale.

BDNF rs 6265 polymorphism and COMT rs 4680 polymorphism in deficit schizophrenia in Polish sample.

Background: Deficit schizophrenia (DS) is distinguished from the group of schizophrenic psychoses based on the presence of primary negative symptoms. It differs from nondeficit (NDS) forms of schizophrenia in dimensions such as risk factors, family history, course of illness and neurobiological differences. The aim of the study was assessment of a potential association of the investigated polymorphisms of the brain-derived neurotrophic factor (BDNF) and catechol-O-methyltransferase (COMT) genes with the deficit syndrome in schizophrenia.

The severity of depressive symptoms vs. serum Mg and Zn levels in postmenopausal women.

The aim of this study was to assess the severity of depressive symptoms in postmenopausal women, depending on serum Mg and Zn levels. The study involved 171 postmenopausal women from Poland, who were not using menopausal hormone therapy (MHT). The intensity of depressive symptoms was evaluated using a standard research technique, the Beck Depression Inventory (BDI).

The effect of selected polymorphisms of the dopamine receptor gene DRD2 and the ANKK-1 on the preference of concentrations of sucrose solutions in men with alcohol dependence.

Background: The aim of the study was to determine the influence of DRD2 gene polymorphisms in exon 8 G/A (rs 6276) in the promoter region -141 C Ins/Del (rs1799732) and the influence of ANKK-1 gene Taq-1A polymorphism (rs 1800497) on the preference of increasing sucrose concentrations in men with alcohol dependence.

Subjects And Methods: 63 male patients with alcohol dependence were genotyped for the above polymorphisms. Their preference for increasing sucrose concentrations was tested and their taste intensity perception of sucrose solutions was assessed.

Influence of DRD2 and ANKK1 polymorphisms on the manifestation of withdrawal syndrome symptoms in alcohol addiction.

Background: We investigated the relationship between withdrawal syndrome symptoms and dopamine receptor 2 DRD2 gene polymorphisms-141 C I/D (rs1799732) exon 8 G/A (rs6276) and ANKK1 (Ankyrin Repeat and Kinase Domain Containing 1) gene polymorphism Taq1A (rs1800497).

Material: A total number of 213 patients who met the ICD 10 criteria for given phenotypes were enrolled in the study. Those phenotypes included: dissocial personality disorder, early onset, alcohol withdrawal syndrome with seizures, alcohol withdrawal syndrome with delirium tremens, and alcohol withdrawal syndrome with seizures and delirium tremens.

Influence of DRD2 and ANKK1 genotypes on apomorphine-induced growth hormone (GH) response in alcohol-dependent patients.

Background: D(2) receptor function can be assessed by growth hormone (GH) response to apomorphine. Several association studies between dopamine receptor polymorphisms and results of the apomorphine challenge test with normal and alcohol-dependent subjects yielded inconsistent results. In this pilot study, we tested polymorphisms from the DRD2 region for GH response to apomorphine challenge in more detail.

[Placental function in pregnant women with anemia].

The important finding in anemia of pregnancy is impairing hormonal placental function, certain complications of pregnancy and labor. Oxytocinase in the maternal serum was determined to evaluate placental function. Many authors pointed out the important role of the enzyme in biochemical monitoring of human pregnancy.

[Effect of diseases in pregnancy on certain placental functions. Enzymatic systems degrading placental glycogen in pregnancy with gestosis].

Pathways of human placental glycogen degradation either in normal or gestotic pregnancy were examined. Determinations of glycogen phosphorylase served as an index of glycogen cleavage in the phosphorylitic pathway. The activity of hydrolytic route was measured by estimating placental glucoamylase.

[Degradation and consumption of one's own glycogen in placental tissue in pregnancy complicated by gestosis and anemia].

We estimated in vitro degradation and consumption of glycogen by placental tissue derived from pregnancies complicated by gestosis and anemia. Placental tissue was incubated in suitable medium. Glycogen concentration either before or after incubation was assayed.