Women's attitudes towards mechanisms of action of birth control methods: a cross-sectional study in five European countries.

Aims And Objectives: To assess women's attitudes towards the mechanisms of action of birth control methods.

Background: When addressing women's knowledge of and attitudes towards birth control methods, researchers frequently focus on side effects, effectiveness or correct use. Women's opinions about mechanisms of action have been much less investigated, and research is usually concentrated on the EC pill.

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.

Background: The PALB2 gene, also known as FANCN, forms a bond and co-localizes with BRCA2 in DNA repair. Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer and 3-4% of familial pancreatic cancer. The goal of this study was to determine the prevalence of PALB2 mutations in a population of BRCA1/BRCA2 negative breast cancer patients selected from either a personal or family history of pancreatic cancer.

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

BRCA2-c.2808_2811del (3036delACAA) is one of the most reported germ line mutations in non-Ashkenazi breast cancer patients. We investigated its genetic origin in 51 Spanish carrier families that were genotyped with 11 13q polymorphic markers.

An evaluation of water quality in private drinking water wells near natural gas extraction sites in the Barnett Shale formation.

Natural gas has become a leading source of alternative energy with the advent of techniques to economically extract gas reserves from deep shale formations. Here, we present an assessment of private well water quality in aquifers overlying the Barnett Shale formation of North Texas. We evaluated samples from 100 private drinking water wells using analytical chemistry techniques.

Igf Signaling is Required for Cardiomyocyte Proliferation during Zebrafish Heart Development and Regeneration.

Unlike its mammalian counterpart, the adult zebrafish heart is able to fully regenerate after severe injury. One of the most important events during the regeneration process is cardiomyocyte proliferation, which results in the replacement of lost myocardium. Growth factors that induce cardiomyocyte proliferation during zebrafish heart regeneration remain to be identified.

DNA copy number profiling reveals extensive genomic loss in hereditary BRCA1 and BRCA2 ovarian carcinomas.

Background: Few studies have attempted to characterise genomic changes occurring in hereditary epithelial ovarian carcinomas (EOCs) and inconsistent results have been obtained. Given the relevance of DNA copy number alterations in ovarian oncogenesis and growing clinical implications of the BRCA-gene status, we aimed to characterise the genomic profiles of hereditary and sporadic ovarian tumours.

Methods: High-resolution array Comparative Genomic Hybridisation profiling of 53 familial (21 BRCA1, 6 BRCA2 and 26 non-BRCA1/2) and 15 sporadic tumours in combination with supervised and unsupervised analysis was used to define common and/or specific copy number features.

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.

Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify breast cancer risk modifying loci for BRCA2 mutation carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using the ranked P-values of the breast cancer associations with the imputed genotype of 1.

Screening of recombinant proteins as antigens in indirect ELISA for diagnosis of bovine tuberculosis.

Bovine tuberculosis is an important infectious disease caused by Mycobacterium bovis, which is responsible for considerable economic losses. This disease constitutes a serious public health problem. Control programs in most countries, including Brazil, are based on the identification and slaughter of infected animals, as defined by the skin tuberculin test, which has its constraints.

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.

The identification of the two most prevalent susceptibility genes in breast cancer, BRCA1 and BRCA2, was the beginning of a sustained effort to uncover new genes explaining the missing heritability in this disease. Today, additional high, moderate and low penetrance genes have been identified in breast cancer, such as P53, PTEN, STK11, PALB2 or ATM, globally accounting for around 35 percent of the familial cases. In the present study we used massively parallel sequencing to analyze 7 BRCA1/BRCA2 negative families, each having at least 6 affected women with breast cancer (between 6 and 10) diagnosed under the age of 60 across generations.

Observational research with adolescents: a framework for the management of the parental permission.

Background: Waiving parent permission can be an option in some epidemiological and social research with adolescents. However, exemptions have not been uniformly considered or applied. Our aim is to critically assess the different factors that could be taken into account when making decisions about waiving active parental permission in observational research with adolescents.

Joint attention at 10 months of age in infant-mother dyads: contrasting free toy-play with semi-structured toy-play.

Fifty-two 10-month-olds and their mothers were observed in free toy-play and semi-structured toy-play for assessing joint attention capabilities. Mothers exhibited more bids for joint attention during semi-structured toy-play. Infants' response to maternal behaviors and their bids for initiating joint attention were higher during free toy-play.

[Implementation Plan for Two Clinical Practice Guides (CPGs) Contained in the Integral Care Guides (ICGs) of the General System of Social Health Care in Colombia: A) "Early Detection of Depressive Episode and Recurrent Depressive Disorder in Adults. Integral Attention of Adults with Diagnosis of Depressive Episode or Recurrent Depressive Disorder (CPG-Depression)". B) "Early Detection, Diagnosis and Treatment of the Acute Intoxication Phase In 18-Years-Old Patients with Alcohol Abuse or Dependence (CPG-Alcohol)"].

Introduction: Clinical practice guides (CPGs) are systematically recommended, with the best clinical evidence available, to help physicians and patients in decision-making concerning the most adequate sanitary care as well as the selection of the best diagnostic and therapeutic options when facing a health problem or a clinical condition. After obtaining these recommendations, it is crucial to adopt them in daily clinical practice; the process through which this change is sought is known as implementation. This document contains recommendations for implementing CPGs in two psychiatric pathologies: 1) depressive episode and recurrent depressive disorder in adults, and 2) acute intoxication phase in cases of alcohol abuse or dependence.

Biochemical markers of vascular calcification in elderly hemodialysis patients.

The increased vascular calcification, cardiovascular morbidity, and mortality in chronic kidney disease (CKD) patients has been associated with disturbances in mineral-bone metabolism. In order to determine markers of the vascular calcification frequently observed in these patients, blood samples of elderly male and female hemodialysis CKD patients were used to measure serum levels of: osteoprotegerin (OPG), total soluble receptor activator of nuclear factor-κB ligand (sRANKL), and fetuin-A by enzyme immunoassay; tartrate-resistant acid phosphatase (TRACP-5b), and bone-specific alkaline phosphatase (BAP) by immunoenzymometric assay; osteocalcin (OC) by ELISA; iPTH by immunoradiometric assay; 25(OH)D(3) and 1,25(OH)(2)D(3), by I(125) radioimmunoassay; and calcium and phosphorus by photometric assay. Serum OPG, BAP, iPTH, phosphorus, and OC levels were higher and serum 25(OH)D(3), 1,25(OH)(2)D(3), and fetuin-A levels lower in both male and female CKD patients than in their respective controls.

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers.

Several common germline variants identified through genome-wide association studies of breast cancer risk in the general population have recently been shown to be associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. When combined, these variants can identify marked differences in the absolute risk of developing breast cancer for mutation carriers, suggesting that additional modifier loci may further enhance individual risk assessment for BRCA1 and BRCA2 mutation carriers. Recently, a common variant on 6p22 (rs9393597) was found to be associated with increased breast cancer risk for BRCA2 mutation carriers [hazard ratio (HR) = 1.

Child and mother mental-state talk in shared pretense as predictors of children's social symbolic play abilities at age 3.

Unlabelled: This study investigated relations between mother and child (N=49) mental-state talk during shared pretense and children's social symbolic play at age 3. Social symbolic play was not related to mothers' mental-state talk. In contrast, children's own use of desire-state talk in shared pretense was a better predictor of social symbolic play than their general use of mental-state talk, even after accounting for general verbal ability as well as mothers' use of desires terms.

A novel component of the Rhodobacter sphaeroides Fla1 flagellum is essential for motor rotation.

Here we describe a novel component essential for flagellar rotation in Rhodobacter sphaeroides. This protein is encoded by motF (RSP_0067), the first gene of a predicted transcriptional unit which contains two hypothetical genes. Sequence analysis indicated that MotF is a bitopic membrane-spanning protein.

Ureteroneocystostomy after failed dextranomer/hyaluronic acid copolymer injection for vesicoureteral reflux treatment.

Purpose: To report our experience of open ureteroneocystostomy after failed endoscopic treatment.

Material And Methods: Clinical charts of 787 children who entered our dextranomer/hyaluronic acid copolymer (DxHA) endoscopic injection program for vesicoureteral reflux (VUR) treatment between May 2000 and December 2009 were reviewed. Fifty-one of these patients were submitted to open ureteroneocystostomy for complete resolution of VUR.

Dismembered pyeloplasty for ureteropelvic junction syndrome treatment in children.

Background: Open dismembered pyeloplasty remains the preferred surgical technique for ureteropelvic junction syndrome (UPJS) in most paediatric urology units. The authors present their experience of 230 patients and describe their form of presentation, treatment and early and long-term results.

Materials And Methods: Retrospective analysis of clinical records of 230 patients submitted to dismembered pyeloplasty in an 8-year period, from 1999 until 2007.

[Retroperitoneal laparoscopic nephrectomy in children younger than nine years-old: state of the art].

Introduction And Aim: In Portugal, there is very few experience in pediatric retroperitoneoscopy. The authors present the first Portuguese series of retroperitoneal laparoscopic nephrectomies (RLN) in children younger than nine years-old, as well as a literature review about the theme.

Material And Methods: Retrospective analysis of clinical charts of all children submitted to RLN between January 2009 and December 2009 in a Pediatric Surgery Department.

Mutational analysis of telomere genes in BRCA1/2-negative breast cancer families with very short telomeres.

A majority of the familial breast cancer cases are not explained by mutations in the best-known high susceptibility genes BRCA1 and BRCA2. Since there is a link between DNA repair and telomere maintenance mechanisms, we have investigated for the first time the role of telomere genes in breast cancer predisposition. By a combination of DHPLC and direct sequencing, we screened for sequence variation in 14 telomere-related genes which included telomerase and shelterin complexes in index cases from 50 BRCA1/2-negative families previously characterized to have very short telomere length in peripheral blood leukocytes.

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.

Background: We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and breast cancer risk in women carrying BRCA1 mutations. The objectives of this study were to investigate whether the IRS1 variants modified ovarian cancer risk and were associated with breast cancer risk in a larger cohort of BRCA1 and BRCA2 mutation carriers.

Methods: IRS1 rs1801123, rs1330645, and rs1801278 were genotyped in samples from 36 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Deregulated miRNAs in hereditary breast cancer revealed a role for miR-30c in regulating KRAS oncogene.

Aberrant miRNA expression has been previously established in breast cancer and has clinical relevance. However, no studies so far have defined miRNAs deregulated in hereditary breast tumors. In this study we investigated the role of miRNAs in hereditary breast tumors comparing with normal breast tissue.

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study.

Background: The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), both of which are important either directly or indirectly in maintaining genomic integrity.

Methods: To evaluate the potential role of genetic variants within PHB and MTHFR in breast and ovarian cancer risk, 4102 BRCA1 and 2093 BRCA2 mutation carriers, and 6211 BRCA1 and 2902 BRCA2 carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) were genotyped for the PHB 1630 C>T (rs6917) polymorphism and the MTHFR 677 C>T (rs1801133) polymorphism, respectively.

Contralateral hearing aid use in cochlear implanted patients: multicenter study of bimodal benefit.

Conclusion: The use of a hearing aid (HA) in combination with a cochlear implant (CI) significantly improved performance for speech perception in quiet, in noise, and for localization compared with monaural conditions. No significant differences in functional performance were observed following optimization of HA fitting.

Objectives: To evaluate the binaural benefits derived from using a contralateral HA in conjunction with a CI in subjects with significant functional hearing in the nonimplanted ear and the effects of HA fitting optimization.