Search results for " Variant"
showing 10 items of 231 documents
Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency.
2012
We report 2 asymptomatic homozygotes for the nonsense p.R462X mutation affecting the carboxy-terminus of coagulation factor VII (FVII, 466 aminoacids). FVII levels of 3-5% and 2.7 ± 0.4% were found in prothrombin time-based and activated factor X (FXa) generation assays with human thromboplastins. Noticeably, FVII antigen levels were barely detectable (0.7 ± 0.2%) which suggested a gain-of-function effect. This effect was more pronounced with bovine thromboplastin (4.8 ± 0.9%) and disappeared with rabbit thromboplastin (0.7 ± 0.2%). This suggests that the mutation influences tissue factor/FVII interactions. Whereas the recombinant rFVII-462X variant confirmed an increase in specific activit…
Orthorexia nervosa and healthy orthorexia as new eating styles
2019
It was recently proposed that healthy orthorexia (HeOr) and orthorexia nervosa (OrNe) should be differentiated. The aim of the present study was to analyze whether the two dimensions of orthorexia can be considered new eating styles or basically equivalent to restrained eating behavior. Two samples of university students (sample 1, n = 460; sample 2, n = 509) completed the Teruel Orthorexia Scale (TOS), the Dutch Eating Behavior Questionnaire (DEBQ), and the Positive and Negative Affect Schedule (PANAS). Factor analysis with the TOS and DEBQ items together revealed an adequate fit for the preexisting five-factor solution (TOS: OrNe and HeOr; DEBQ: Restrained Eating, Emotional Eating, and Ex…
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.
2015
Background: Monogenic hypertriglyceridemia (HTG) may result from mutations in some genes which impair the intravascular lipolysis of triglyceride (TG)-rich lipoproteins mediated by the enzyme Lipoprotein lipase (LPL). Mutations in the LPL gene are the most frequent cause of monogenic HTG (familial chylomicronemia) with recessive transmission. Methods: The LPL gene was resequenced in 149 patients with severe HTG (TG>10mmol/L) and 106 patients with moderate HTG (TG>4.5 and <10mmol/L) referred to tertiary Lipid Clinics in Italy. Results: In the group of severe HTG, 26 patients (17.4%) were homozygotes, 9 patients (6%) were compound heterozygotes and 15 patients (10%) were simple heter…
Concordance and Clinical Significance of Uncommon Variants of Bladder Urothelial Carcinoma in Transurethral Resection and Radical Cystectomy Specimens
2014
To evaluate the concordance and prognostic role of histologic variants of bladder urothelial carcinoma in transurethral resection of bladder tumor (TURBT) and radical cystectomy (RC) specimens. METHODS Clinicopathologic information available at the time of RC and follow-up data from 4110 RC specimens, collected between January 2000 and December 2009 at 17 tertiary referral centers were retrospectively analyzed and evaluated for the presence or absence of uncommon variants of bladder urothelial carcinoma. The presence or absence of uncommon variants of bladder urothelial carcinoma was evaluated on previous TURBT specimens of patients undergoing RC. Cox regression was used to assess the impac…
Differential Clinicopathological Risk and Prognosis of Major Papillary Thyroid Cancer Variants
2015
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Association Between Chromosome 9p21 Variants and the Ankle-Brachial Index Identified by a Meta-Analysis of 21 Genome-Wide Association Studies
2012
Background— Genetic determinants of peripheral arterial disease (PAD) remain largely unknown. To identify genetic variants associated with the ankle-brachial index (ABI), a noninvasive measure of PAD, we conducted a meta-analysis of genome-wide association study data from 21 population-based cohorts. Methods and Results— Continuous ABI and PAD (ABI ≤0.9) phenotypes adjusted for age and sex were examined. Each study conducted genotyping and imputed data to the ≈2.5 million single nucleotide polymorphisms (SNPs) in HapMap. Linear and logistic regression models were used to test each SNP for association with ABI and PAD using additive genetic models. Study-specific data were combined using fi…
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…
Possible Clinical Implications of Geographic Differences in Prevalence of Double Transverse Foramen
2019
The double transverse foramen (DBLTF) is a cervical spine anatomic variant. Current literature has presented prevalence values of DBLTF in Caucasian Mediterranean subjects that seem to be higher than those observed in other samples of subjects. Therefore we aimed to test if Caucasian Mediterranean subjects present a higher prevalence of the DBLTF than sub-Saharan African subjects.We analyzed the presence of DBLTF in cervical spines of 100 skeletons from Caucasian Mediterranean subjects and 91 skeletons from sub-Saharan African subjects, resulting in a total of 1337 cervical vertebrae having been studied.No DBLTF was found in vertebrae C1, C2, and C3. The pattern of prevalence observed in al…
Self-stabilizing Balls & Bins in Batches
2016
A fundamental problem in distributed computing is the distribution of requests to a set of uniform servers without a centralized controller. Classically, such problems are modelled as static balls into bins processes, where m balls (tasks) are to be distributed to n bins (servers). In a seminal work, [Azar et al.; JoC'99] proposed the sequential strategy Greedy[d] for n = m. When thrown, a ball queries the load of d random bins and is allocated to a least loaded of these. [Azar et al.; JoC'99] showed that d=2 yields an exponential improvement compared to d=1. [Berenbrink et al.; JoC'06] extended this to m ⇒ n, showing that the maximal load difference is independent of m for d=2 (in contrast…
Detecting Inclusions in Electrical Impedance Tomography Without Reference Measurements
2009
We develop a new variant of the factorization method that can be used to detect inclusions in electrical impedance tomography from either absolute current-to-voltage measurements at a single, nonzero frequency or from frequency-difference measurements. This eliminates the need for numerically simulated reference measurements at an inclusion-free body and thus greatly improves the method's robustness against forward modeling errors, e.g., in the assumed body's shape.