Search results for "Disposition"
showing 10 items of 832 documents
Association between a SLC23A2 gene variation, plasma vitamin C levels, and risk of glaucoma in a Mediterranean population
2011
Purpose Several dietary factors have been associated with glaucoma. Among them, dietary antioxidant intake (i.e., vitamin C and vitamin A) in association with glaucoma has been analyzed, but with mixed results. Genetic factors may play a role in modulating the effect of dietary antioxidant intake on glaucoma; however, nutrigenetic studies in this field are scarce. Our aim was to study the association between selected polymorphisms in key proteins related to vitamin C and vitamin A concentrations and primary open-angle glaucoma (POAG). Methods We performed a case-control study matched for age, sex, and bodyweight. We recruited 300 subjects (150 POAG cases and 150 controls) from a Mediterrane…
The association of variants in PNPLA3 and GRP78 and the risk of developing hepatocellular carcinoma in an Italian population
2016
// Daniele Balasus 1, * , Michael Way 2, * , Caterina Fusilli 3 , Tommaso Mazza 3 , Marsha Y. Morgan 2 , Melchiorre Cervello 4 , Lydia Giannitrapani 1 , Maurizio Soresi 1 , Rosalia Agliastro 5 , Manlio Vinciguerra 2, 6 , Giuseppe Montalto 1, 4 1 Biomedical Department of Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy 2 Institute for Liver & Digestive Health, Division of Medicine, Royal Free Campus, University College London, London, UK 3 IRCCS Casa Sollievo della Sofferenza, Bioinformatics Unit, San Giovanni Rotondo (FG), Italy 4 Institute of Biomedicine and Molecular Immunology, National Research Council (C.N.R.), Palermo, Italy 5 Immunohematology and Trans…
Genetic Instability and Intratumoral Heterogeneity in Neuroblastoma with MYCN Amplification Plus 11q Deletion
2013
Background/Aim Genetic analysis in neuroblastoma has identified the profound influence of MYCN amplification and 11q deletion in patients’ prognosis. These two features of high-risk neuroblastoma usually occur as mutually exclusive genetic markers, although in rare cases both are present in the same tumor. The purpose of this study was to characterize the genetic profile of these uncommon neuroblastomas harboring both these high-risk features. Methods We selected 18 neuroblastomas with MNA plus 11q loss detected by FISH. Chromosomal aberrations were analyzed using Multiplex Ligation-dependent Probe Amplification and Single Nucleotide Polymorphism array techniques. Results and Conclusion Thi…
TLR4 polymorphisms and ageing: implications for the pathophysiology of age-related diseases.
2009
Innate immunity provides a first line of host defense against infection by recognizing and killing microbes while simultaneously activating an instructive immune response. Toll-like receptors (TLRs) are principal mediators of rapid microbial recognition and function mainly by detection of pathogen-associated molecular patterns that do not exist in the host. Recognition of their ligands leads to a series of signaling events resulting in acute host responses, involved in killing pathogens. Discussion We describe the involvement of TLR4 polymorphisms in ageing, and in particular in age-related diseases, suggesting the crucial role of molecules of innate immunity in pathophysiology of these dis…
Event-related potentials in newborns with and without familial risk for dyslexia: principal component analysis reveals differences between the groups
2003
Differences revealed by factor scores extracted by principal component analysis (PCA) from event-related potential (ERP) data of newborns with and without familial risk for dyslexia were examined and compared to results obtained by using original averaged ERPs. ERPs to consonant-vowel syllables (synthetic /ba/, /da/, /ga/; and natural /paa/, /taa/, /kaa/) were recorded from 26 at-risk and 23 control 1-7 day-old infants. The stimuli were presented equiprobably and with interstimulus intervals varying at random from 3,910 to 7,285 ms. Statistically significant between-group differences were found to be relatively similar irrespective of the methods of analysis (original ERPs vs. factor scores…
Factors Influencing Clinical and Setting Pathways after Discharge from an Acute Palliative/Supportive Care Unit
2019
Aim The aim of this study was to assess the factors which influence the care pathway after discharge from an acute palliative supportive care unit (APSCU). Methods Patients' demographics, indications for admission, kind of admission, the presence of a caregiver, awareness of prognosis, data on anticancer treatments in the last 30 days, ongoing treatment (on/off or uncertain), the previous care setting, analgesic consumption, and duration of admission were recorded. The Edmonton Symptom Assessment Scale (ESAS) at admission and at time of discharge (or the day before death), CAGE (cut down, annoy, guilt, eye-opener), and the Memorial Delirium Assessment Scale (MDAS), were used. At time of dis…
Mutations in the HFE gene and cardiovascular disease risk: an individual patient data meta-analysis of 53 880 subjects.
2008
Background— Whether mutations in the hemochromatosis (HFE) gene increase cardiovascular disease risk is still undetermined. The main reason is the low frequency of the mutations, in particular of the compound C282Y/H63D genotype. We combined the data of 11 observational studies for an individual patient data meta-analysis. Methods and Results— Individual patient data were obtained from published as well as unpublished studies that had information available on the C282Y mutation as well as the H63D mutation in relation to coronary heart disease risk. Individual records were provided on each of the 53 880 participants in 11 studies. In total, 10 541 patients with coronary events were documen…
Frailty and Risk of Cardiovascular Diseases in Older Persons: The Age, Gene/Environment Susceptibility-Reykjavik Study
2017
Frailty is a risk factor for cardiovascular diseases (CVD), but the studies available have not considered the presence of subclinical atherosclerotic disease as potential confounders. We investigated the association between frailty and the onset of CVD independently of subclinical atherosclerotic disease. For this reason, a sample of 3818 older participants participating in the Age, Gene/Environment Susceptibility-Reykjavik Study without CVD at baseline was followed for a median of 8.7 years. Frailty was defined as the presence of ≥3 among five Fried's criteria (unintentional weight loss, low physical activity level, weakness, exhaustion, and slow gait speed). Incident CVD was defined as on…
Late-onset myasthenia gravis - CTLA4(low) genotype association and low-for-age thymic output of naïve T cells.
2014
Abstract Late-onset myasthenia gravis (LOMG) has become the largest MG subgroup, but the underlying pathogenetic mechanisms remain mysterious. Among the few etiological clues are the almost unique serologic parallels between LOMG and thymoma-associated MG (TAMG), notably autoantibodies against acetylcholine receptors, titin, ryanodine receptor, type I interferons or IL-12. This is why we checked LOMG patients for two further peculiar features of TAMG – its associations with the CTLA4 high/gain-of-function +49A/A genotype and with increased thymic export of naive T cells into the blood, possibly after defective negative selection in AIRE-deficient thymomas. We analyzed genomic DNA from 116 …
ITPA deficiency and ribavirin level are still predictive of anaemia in HCV–HIV-coinfected patients receiving ribavirin combined with a first-generati…
2017
Background We aimed to determine the impact of inosine triphosphatase (ITPA) deficiency on ribavirin (RBV)-induced anaemia in HIV–HCV-coinfected patients receiving a triple therapy including the haematotoxic direct-acting antiviral agent boceprevir (BOC). Methods Patients of the ANRS HC27 BocepreVIH study were genotyped for two ITPA single nucleotide polymorphisms involved in ITPA deficiency. RBV trough concentration (Ctrough) was determined at week (W)4 and W8. Impact of ITPA deficiency on anaemia, RBV Ctrough, response and haematotoxicity (grade 3/4 anaemia, erythropoietin [EPO] use, RBV dose reduction or transfusion between day [D]0 and W8) was evaluated. Impact of RBV Ctrough on anaemia…