Search results for "Frame"

Frequency of NOD2/CARD15 variants in both sporadic and familial cases of Crohn's disease across Italy. An Italian Group for Inflammatory Bowel Diseas…

2004

Abstract Background. Three variants of the NOD 2 /CARD 15 gene are strongly associated with susceptibility to Crohn’s disease; however, striking racial and geographic differences of their frequency have been described. Aims. We have compared the allele frequencies of familial cases of Crohn’s disease recruited in a multicentre study across Italy, in order to disclose possible geographic heterogeneity. Moreover, we also compared the allele frequencies in sporadic cases of Crohn’s disease and healthy controls from Southern Italy with those reported in other two populations from Central and Northern Italy. Subjects and Methods. A total of 731 subjects were genotyped for the polymorphism of thr…

The Advantages of Type III Scaphoid Nonunion Advanced Collapse (SNAC) Treatment With Partial Carpal Arthrodesis in the Dominant Hand: Results of 5-ye…

2018

Introduction The SNAC wrist (Scaphoid nonunion advanced collapse) is one of the complications following scaphoid fractures treated conservatively and one of the causes of wrist arthritis that the hand surgeon has to face most frequently. In these cases surgical management is usually warranted. Materials and methods In the set time frame of 6 years we treated 15 SNAC wrist cases. On average patients underwent surgery five years after the trauma. All patients were treated via dorsal incision with partial carpal arthrodesis and total scaphoidectomy, associated with denervation of the posterior interosseous nerves. A plaster cast was applied to all patients for 3 weeks postoperatively. In the p…

Elderly adults delay proprioceptive reweighting during the anticipation of collision avoidance when standing.

2012

The ability to reweight visual and proprioceptive information is critical for maintaining postural stability in a dynamic environment. In this study, we examined whether visual anticipation of collision avoidance (AV) while standing could facilitate the down-weighting of altered proprioception in young and elderly adults. Twelve young (24.91 ± 6.44 years) and 12 elderly (74.8 ± 6.42 years) participants stood upright for 180 s under two task conditions: (a) quiet stance (QS) and (b) standing while anticipating virtual objects to be avoided. In order to disrupt the accuracy of proprioceptive input participants were exposed to bilateral Achilles tendon vibration during the middle 60 s of stand…

A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily

2005

Summary Background  Lipoid proteinosis (LP), also known as Urbach–Wiethe disease, is a rare autosomal recessive disorder characterized by a hoarse voice, warty skin infiltration and scarring. Mutations within the extracellular matrix protein 1 (ECM1) gene cause LP. Objectives  We report the molecular analysis of the ECM1 gene in a Sicilian patient with LP in order to extend the mutation spectrum of this genodermatosis. Methods  We studied a 32-year-old female born from consanguineous parents who was diagnosed at the age of 11 years as having LP. She has a clinical phenotype corresponding to Urbach–Wiethe disease characterized by papules/nodules, indurated plaques and sometimes ulcerated les…

Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent

2006

Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease caused by mutations in the gene coding for the low density lipoprotein receptor (LDL-R). It is characterized by a high concentration of low density lipoprotein (LDL), which frequently gives rise to premature coronary artery disease. We studied the probands of five FH Sicilian families with 'definite' FH and one proband of Paraguayan descent with homozygous FH who has been treated with an effective living-donor liver transplantation. In order to seek the molecular defect in these six families, we used direct sequencing to define the molecular defects of the LDL-R gene responsible for the disease. We described three…

Association study of a SNP coding for a M129V substitution in the prion protein in schizophrenia.

2003

A study protocol for applying the co-creating knowledge translation framework to a population health study

2013

Background: Population health research can generate significant outcomes for communities, while Knowledge Translation (KT) aims to expressly maximize the outcomes of knowledge producing activity. Yet the two approaches are seldom explicitly combined as part of the research process. A population health study in Port Lincoln, South Australia offered the opportunity to develop and apply the co-KT Framework to the entire research process. This is a new framework to facilitate knowledge formation collaboratively between researchers and communities throughout a research to intervention implementation process. Design: This study employs a five step framework (the co-KT Framework) that is formulate…

Similar contributions of BRCA1 and BRCA2 germline mutations to early-onset breast cancer in Germany.

2003

This study was undertaken to investigate the prevalence of BRCA1 and BRCA2 germline mutations in 91 German patients unselected for family history, who were diagnosed with breast cancer before the age of 41 years. Clinical information and blood samples were obtained from all patients. A comprehensive BRCA1 and BRCA2 mutational analysis was performed using the protein truncation assay and single-strand conformational polymorphism analysis followed by DNA sequencing of variant signals detected by these assays. Five different deleterious germline mutations including four frameshift mutations and one missense mutation were identified, three in BRCA1 (3.3%) and two mutations (2.2%) in BRCA2. Both…

Interventions to Improve Health among Reproductive-Age Women of Low Health Literacy: A Systematic Review

2020

Background: Limited or low health literacy (HL) has been associated with poor health outcomes, including inadequate self-caring and preventive behaviors. A few studies have systematically summarized the effect of interventions to improve reproductive health and care in women with insufficient HL. The main objective of the study was to investigate health care promotion interventions and examine their effectiveness on women with inadequate HL through a systematic review of randomized controlled trials (RCT). Methods: RCTs and quasi-experimental studies that assessed HL interventions to improve reproductive health of women with low HL were included. The study protocol was registered with PROSP…

Eye position tunes the contribution of allocentric and egocentric information to target localization in human goal-directed arm movements.

1997

Subjects were required to point to the distant vertex of the closed and the open configurations of the Muller-Lyer illusion using either their right hand (experiment 1) or their left hand (experiment 2). In both experiments the Muller-Lyer figures were horizontally presented either in the left or in the right hemispace and movements were executed using either foveal or peripheral vision of the target. According to the illusion effect, subjects undershot and overshot the vertex location of the closed and the open configuration, respectively. The illusion effect decreased when the target was fixated and when the stimulus was positioned in the right hemispace. These results confirm the hypothe…