C2362F mutation gives rise to an ADAMTS13-resistant von Willebrand factor.

von Willebrand factor (VWF) multimers result from proteolysis by the metalloprotease ADAMTS13. Since C2362F-VWF features abnormally large multimers with their triplet oligomer structure replaced by a diffuse smear, we explored the susceptibility of C2362F-VWF to ADAMTS13. VWF-enriched blood samples, obtained by cryoethanol precipitation of plasma from a patient with von Willebrand disease (VWD) homozygous for the C2362F mutation and a normal subject, were submitted to cleavage by recombinant ADAMTS13 under static conditions in the presence of urea.

Giant aneurysm of venous aorto-right renal artery bypass.

This is a case of a young woman who was admitted to our department with a diagnosis of 'aneurysm of aorto-right renal artery venous bypass' performed for a diagnosis of Takayasu arteritis, left renal artery occlusion, right renal artery subocclusion and abdominal aorta coarctation. The patient had previously undergone extra-anatomical bypass between the descending thoracic aorta and the subrenal abdominal aorta and a venous bypass between abdominal aorta and right renal artery. A new bypass with an 8-mm-armed polytetrafluoroethylene graft was performed between the right renal artery and the right common iliac artery.

Reoperative surgery on the thoracic aorta.

Objective: The objective of our study was to report our hospital and long-term results after reinterventions on the thoracic aorta.

Methods: Between 1986 and 2011, 224 reoperations on the proximal thoracic aorta after previous aortic surgery were performed in our institution. The number of reinterventions quadrupled during the course of the study period.

Case-control study of HLA-G promoter methylation status, HPV infection and cervical neoplasia in Curitiba, Brazil: a pilot analysis.

Background: The causal association between persistent human papillomavirus (HPV) infection and cervical cancer has been established, but the mechanisms that favor HPV persistence in cervical cells are still unknown. The diminished capability of the immune system to control and resolve HPV infection is one of several hypotheses. The tolerogenic protein HLA-G has shown aberrant expression in a variety of cancers, which has been suggested as a mechanism for tumor escape from immunosurveillance.

Risk of high-grade cervical intraepithelial neoplasia during follow-up in HPV-positive women according to baseline p16-INK4A results: a prospective analysis of a nested substudy of the NTCC randomised controlled trial.

Background: Immunostaining for p16-INK4A (henceforth p16) is a sensitive and specific method for detection of high-grade cervical intraepithelial neoplasia (CIN) in women infected with human papillomavirus (HPV), but longitudinal data have not been obtained. We investigated the relation between p16 status and risk of CIN during 3 years of follow-up.

Methods: Women aged 25-60 years were enrolled between June 10, 2003, and Dec 31, 2004, in a multicentre randomised trial comparing HPV testing with cytology.

Epidermal growth factor receptor (EGFR) gene copy number in colorectal adenoma-carcinoma progression.

Adenomas are the easily identifiable precursors of the vast majority of colorectal cancers. Some of their morphological features, such as dysplasia, are predictive of their biological evolution toward adenocarcinomas. A large body of evidence has demonstrated that the epidermal growth factor receptor (EGFR) signaling pathway is commonly activated in colorectal cancer and EGFR-target therapies have improved the outcome for colorectal cancer patients.

The contribution of FTO and UCP-1 SNPs to extreme obesity, diabetes and cardiovascular risk in Brazilian individuals.

Background: Obesity has become a common human disorder associated with significant morbidity and mortality and adverse effects on quality of life. Sequence variants in two candidate genes, FTO and UCP-1, have been reported to be overrepresented in obese Caucasian population. The association of these genes polymorphisms with the obesity phenotype in a multiethnic group such as the Brazilian population has not been previously reported.

Cardiovascular disease risk in the offspring of diabetic women: the impact of the intrauterine environment.

The incidence of gestational diabetes is increasing worldwide, exposing large numbers of infants to hyperglycaemia whilst in utero. This exposure may have a long-term negative impact on the cardiovascular health of the offspring. Novel methods to assess cardiovascular status in the neonatal period are now available-including measuring arterial intima-media thickness and retinal photography.

[Reoperative aortic root replacement: short- and long-term outcomes in 111 patients].

Background: The aim of this study was to report results of aortic root reoperations and to identify predictors of in-hospital and long-term mortality.

Methods: Between 1986 and 2011, 111 consecutive patients (mean age 55.4 years, 85 male [76.

Protein kinase C ε expression in platelets from patients with acute myocardial infarction.

Objective: Platelets play crucial roles in the pathophysiology of thrombosis and myocardial infarction. Protein kinase C ε (PKCε) is virtually absent in human platelets and its expression is precisely regulated during human megakaryocytic differentiation. On the basis of what is known on the role of platelet PKCε in other species, we hypothesized that platelets from myocardial infarction patients might ectopically express PKCε with a pathophysiological role in the disease.

Prevalence and follow-up of occult HCV infection in an Italian population free of clinically detectable infectious liver disease.

Background: Occult hepatitis C virus infection (OCI) is a recently described phenomenon characterized by undetectable levels of HCV-RNA in serum/plasma by current laboratory assays, with identifiable levels in peripheral blood mononuclear cells (PBMCs) and/or liver tissue by molecular tests with enhanced sensitivity. Previous results from our group showed an OCI prevalence of 3.3% in a population unselected for hepatic disease.

Catechol-O-methyltransferase genetic variant associated with the risk of Alzheimer's disease in a Brazilian population.

The aim of the present study was to examine the association between polymorphism in the catechol-O-methyltransferase(COMT) gene and Alzheimer's disease (AD) in a Brazilian population. The case-control method was used to study the association between AD and genetic variants of COMT. Six tag single-nucleotide polymorphisms(SNPs) in the COMT gene were genotyped by RT-PCR.

Evaluation of an algorithm based on single-condition decision rules for binary classification of 12-lead ambulatory ECG recording quality.

A new algorithm for classifying ECG recording quality based on the detection of commonly observed ECG contaminants which often render the ECG unusable for diagnostic purposes was evaluated. Contaminants (baseline drift, flat line, QRS-artefact, spurious spikes, amplitude stepwise changes, noise) were detected on individual leads from joint time-frequency analysis and QRS amplitude. Classification was based on cascaded single-condition decision rules (SCDR) that tested levels of contaminants against classification thresholds.

Sociodemographic characteristics, clinical factors, and genetic polymorphisms associated with Alzheimer's disease.

Objective: Alzheimer's disease (AD) has a multifactorial etiology involving an interaction of genetic and environmental factors. The Apolipoprotein E ε4 (ApoE ε4) is the single most important genetic risk factor for sporadic AD. Our aim was to study the association between sociodemographic, clinical data and gene polymorphisms in patients with sporadic AD in a heterogeneous genomic Brazilian population with low educational levels.

Acute aortic dissection: epidemiology and outcomes.

Background: Little epidemiological information on acute aortic dissection (AAD) is available in the literature. The objective of the present study was to determine the incidence and mortality rates of AAD in the general population and to analyze its clinical features.

Methods: Data from the Emilia-Romagna regional database of hospital admissions was analyzed.

Assessment of TP53 mutations in benign and malignant salivary gland neoplasms.

Despite advances in the understanding of the pathogenesis of salivary gland neoplasms (SGN), the molecular pathways associated with enhanced tumor growth and cell survival remain to be established. The aim of the present study was to investigate whether TP53 mutations are relevant to SGN pathogenesis and if they impact on p53 protein expression. The study included 18 benign and 18 malignant SGN samples.

Genetic interaction between NAT2, GSTM1, GSTT1, CYP2E1, and environmental factors is associated with adverse reactions to anti-tuberculosis drugs.

Background: Adverse drug reactions (ADRs) associated with anti-tuberculosis (anti-TB) drug regimens have considerable impact on anti-TB treatment, potentially leading to unsuccessful outcomes. Nevertheless, the risk factors that play a role in anti-TB drug-induced ADRs are not well established. It is well documented that genetic polymorphisms in drug-metabolizing enzymes (DMEs) result in considerably complex variability in anti-TB drug disposition.

[Results and cost evaluation of triage with high risk HPV test in cervical cancer screening. A pilot study in Piedmont (North-West Italy)].

Objective: causal relation between high risk Papilloma virus and cervical carcinoma is definitely ascertained. HPV test is suggested both as primary screening test and as triage test for selecting women who should undergo colposcopy examination. Evidence is clear for triage after ASC-US cytology.

Long-term outcome after acute type A aortic dissection: does an age limit still exist?

Aim: Aim of the study was to analyze outcome in patients who underwent surgery following type A aortic dissections and to evaluate the long-term survival rates in patients 70 years of age and older and those under 70 years of age, and in males as compared to females.

Methods: Between September 1997 and October 2008, 154 patients were retrospectively enrolled. There were 102 males (66.

The Tower of London Test: different scoring criteria for diagnosing Alzheimer's disease and mild cognitive impairment.

The Tower of London (TOL) is used for evaluating planning skills, which is a component of the executive functions. Different versions and scoring criteria were developed for this task, and some of them present with different psychometrical properties. This study aimed to evaluate two specific scoring methods of the TOL in diagnosing Mild Cognitive Impairment and probable Alzheimer's disease.

[Uric acid, atherosclerosis and vascular calcifications in chronic kidney disease].

Abstract. Epidemiological and clinical studies have shown that cardiovascular disease is associated with an increase in mortality in patients with chronic kidney disease (CKD). Vascular complications are mainly secondary to calcification and atherosclerosis.

A phenomenological approach to modeling chemical dynamics in nonlinear and two-dimensional spectroscopy.

We present an approach for calculating nonlinear spectroscopic observables, which overcomes the approximations inherent to current phenomenological models without requiring the computational cost of performing molecular dynamics simulations. The trajectory mapping method uses the semi-classical approximation to linear and nonlinear response functions, and calculates spectra from trajectories of the system's transition frequencies and transition dipole moments. It rests on identifying dynamical variables important to the problem, treating the dynamics of these variables stochastically, and then generating correlated trajectories of spectroscopic quantities by mapping from the dynamical variables.

Application of molecular biology at the approach of Bartter's syndrome: case report.

This paper aims to show the utility of molecular biology for diagnose Bartter syndrome (BS) by the case report of two sisters and to propose a diagram for the molecular approach of this syndrome. The two reported cases presented prematurity, pregnancy complicated with polyhydramnio and low birth weight. During the first year of life, children exhibited polyuria, polydipsia and failure to thrive, leading to the investigation of renal tubular diseases and innate errors of metabolism.

Spatial complexity and spectral distribution variability of atrial activity in surface ECG recordings of atrial fibrillation.

Considerable research effort has been devoted to the estimation of the degree of organisation of atrial fibrillation (AF), to potentially support clinical decision making. The aims of this study were to: (1) analyse the temporal variability of spatial organisation (complexity) and spectral distribution of AF in body surface potential maps (BSPM), proposing an automated implementation of the analysis and (2) assess the applicability to reduced lead-sets. Twenty-one persistent AF recordings of 3 min each (64 BSPM: 32 anterior, 32 posterior) were analysed.