Search results for "position"
showing 10 items of 6771 documents
Influence of St John's wort on catecholamine turnover and cardiovascular regulation in humans
2004
BACKGROUND: St John's wort (Hypericum perforatum) is a popular over-the-counter antidepressant. Its antidepressive effect has been attributed in part to inhibition of monoamine transporters and monoamine oxidase, on the basis of in vitro studies. METHODS: In a double-blind, randomized, placebo-controlled, crossover study, 16 healthy subjects (11 men and 5 women; mean age, 31 +/- 5 years) ingested either St John's wort (300 mg three times daily) or placebo for 7 days. Imipramine treatment (50 mg three times daily) in 7 subjects served as a positive control. After treatment, physiologic and biochemical tests included cardiovascular reflex testing, graded head-up tilt testing, and plasma catec…
Association Study of Nonsynonymous Single Nucleotide Polymorphisms in Schizophrenia
2010
Genome-wide association studies using several hundred thousand anonymous markers present limited statistical power. Alternatively, association studies restricted to common nonsynonymous single nucleotide polymorphisms (nsSNPs) have the advantage of strongly reducing the multiple testing problem, while increasing the probability of testing functional single nucleotide polymorphisms (SNPs).We performed a case-control association study of common nsSNPs in Galician (northwest Spain) samples using the Affymetrix GeneChip Human 20k cSNP Kit, followed by a replication study of the more promising results. After quality control procedures, the discovery sample consisted of 5100 nsSNPs at minor allel…
High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.
2007
Mutation screening of the BRCA1 and BRCA2 genes in probands with familial breast/ovarian cancer has been greatly improved by the multiplex ligation-dependent probe amplification (MLPA) assay able to evidence gene rearrangements not detectable by standard screening methods. However, no criteria for selection of cases to be submitted to the MLPA test have been reported yet. We used the BRCAPro software for the selection of familial breast/ovarian cancer probands investigated with the MLPA approach after negative BRCA1/2 conventional mutation screening. One hundred and seventy-seven probands were investigated for germline BRCA1/2 mutations after assessment of genetic risk using BRCAPro. Proban…
Effect of influenza-induced fever on human bioimpedance values.
2015
Background and Aims Bioelectrical impedance analysis (BIA) is a widely used technique to assess body composition and nutritional status. While bioelectrical values are affected by diverse variables, there has been little research on validation of BIA in acute illness, especially to understand prognostic significance. Here we report the use of BIA in acute febrile states induced by influenza. Methods Bioimpedance studies were conducted during an H1N1 influenza A outbreak in Venezuelan Amerindian villages from the Amazonas. Measurements were performed on 52 subjects between 1 and 40 years of age, and 7 children were re-examined after starting Oseltamivir treatment. Bioelectrical Impedance Vec…
Correlates of increased lean muscle mass in women with polycystic ovary syndrome.
2009
ObjectiveMuscle mass plays an important role in determining cardiovascular and metabolic risks in polycystic ovary syndrome (PCOS). In addition, whether lean mass influences carotid intima-media thickness (IMT) in PCOS has not been assessed.DesignProspective investigation.MethodsNinety-five women with PCOS were age- and weight-matched to 90 ovulatory controls. All women had dual X-ray absorptiometry for lean, fat and bone mass, and bone mass density (BMD). Serum testosterone, sex hormone-binding globulin, insulin, and glucose and carotid IMT were determined. Free androgen index (FAI) and insulin resistance (by QUICKI) were calculated.ResultsIn PCOS, waist circumference and insulin were high…
Associations of parental education and parental physical activity (PA) with children's PA: The ENERGY cross‐sectional study
2012
OBJECTIVE The present study sought to examine the independent associations of parental education and physical activity (PA) with children's PA across Europe. METHODS A total of 7214 children (10-12 years) were recruited from a school-based cross-sectional survey during 2010 in seven European countries. Weight and height were measured. Parental educational level (PEL) and parents' and children's PA were collected using self-reported questionnaires. Multiple linear regression models were used, comparing children's PA with PEL and PA levels. RESULTS PEL was directly associated with children's PA in Greek and Spanish girls (all P < 0.01) and boys’ PA in Norway (all P < 0.05). Paternal education…
Interaction of genetic vulnerability to schizophrenia and Communication Deviance of adoptive parents associated with MMPI schizophrenia vulnerability…
2008
The aim of this study was to establish possible genotype-environment interaction in high-risk and low-risk adoptees' vulnerability to schizophrenia. The study population consisted of a subgroup of 41 adoptive families with a high genetic risk adoptee and 58 families with a low genetic risk adoptee from the Finnish Adoptive Family Study of Schizophrenia. Communication style was assessed based on the Communication Deviance (CD) of the adoptive parents, and the adoptees' vulnerability indicators were measured with the Minnesota Multiphasic Personality Inventory (MMPI). Taken separately, only the genetic liability to schizophrenia, but not the communication style of the adoptive parents, was si…
Gene-environment interaction as a predictor of early adjustment in first episode psychosis.
2017
Abstract Background This study aims to explore the gene-environment interaction hypothesis applied to pre-symptomatic neurodevelopmental phenotypes of first episode psychosis (FEP), that is, genetic factors might increase vulnerability to the effects of environmental adverse conditions occurring at later stages of development. Methods We constructed a schematic ‘two-hit’ model, with Val/Val homozygosity for the catechol- O -methyltransferase ( COMT ) Val158Met polymorphism as the ‘first hit’ and history of obstetric complications and parental socioeconomic status as ‘second hits’. Early adjustment, measured using the Premorbid Adjustment Scale, was considered the main outcome. The study pop…
Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegenerati…
2011
Purpose: To present some unusual MR findings in a group of patients from the south-west of the Dominican Republic suffering from Pantothenate Kinase Associated Neurodegeneration (PKAN). Materials and Methods: Twenty patients and one preclinical case homozygous for the PANK2 mutation, 13 heterozygous gene carriers and 14 healthy volunteers were scanned prospectively using a 3 Tesla system. Results: All patients showed the typical signal reduction within the globus pallidus and the substantia nigra. A surprising finding was the absence of the bright spot (“tiger's eye”) in the medial part of the pallidum in 6 patients, but not in the preclinical case. Both fractional anisotropy (FA) and mean …
Malignant paraganglioma caused by a novel germline mutation of the succinate dehydrogenase D-gene--a case report.
2008
Background Paragangliomas of the head and neck are rare, mostly benign tumors. Approximately 10% to 15% of paragangliomas are caused by mutations in the succinate dehydrogenase (SDH) genes B, C, or D. These are often multifocal as part of paraganglioma syndromes and hormone secreting, and malignant particularly associated with mutations in SDHB. Methods and Results A 29-year-old man was seen with recurrent paraganglioma. The patient's father reportedly suffered from bilateral carotid body tumors. Imaging studies showed metastases in both lungs and the liver. There was no increased hormone production by the tumor. Sequence analysis of the SDH genes revealed a novel C to T nonsense mutation i…