Search results for "FRAM"
showing 10 items of 2142 documents
Trends in the prevalence of asthma and allergic rhinitis in Italy between 1991 and 2010
2012
The prevalence of asthma increased worldwide until the 1990s, but since then there has been no clear temporal pattern. The present study aimed to assess time trends in the prevalence of current asthma, asthma-like symptoms and allergic rhinitis in Italian adults from 1990 to 2010. The same screening questionnaire was administered by mail or phone to random samples of the general population (age 20-44 yrs) in Italy, in the frame of three multicentre studies: the European Community Respiratory Health Survey (ECRHS) (1991-1993; n=6,031); the Italian Study on Asthma in Young Adults (ISAYA) (1998-2000; n=18,873); and the Gene Environment Interactions in Respiratory Diseases (GEIRD) study (2007-2…
Epidemiology, practice of ventilation and outcome for patients at increased risk of postoperative pulmonary complications:LAS VEGAS - An observationa…
2017
BACKGROUND Limited information exists about the epidemiology and outcome of surgical patients at increased risk of postoperative pulmonary complications (PPCs), and how intraoperative ventilation was managed in these patients. OBJECTIVES To determine the incidence of surgical patients at increased risk of PPCs, and to compare the intraoperative ventilation management and postoperative outcomes with patients at low risk of PPCs. DESIGN This was a prospective international 1-week observational study using the ‘Assess Respiratory Risk in Surgical Patients in Catalonia risk score’ (ARISCAT score) for PPC for risk stratification. PATIENTS AND SETTING Adult patients requiring intraoperative venti…
A Polymorphism in a Gene Encoding Perilipin 4 Is Associated with Height but not with Bone Measures in Individuals from the Framingham Osteoporosis St…
2011
There is increasing interest in identifying new pathways and candidate genes that confer susceptibility to osteoporosis. There is evidence that adipogenesis and osteogenesis may be related, including a common bone marrow progenitor cell for both adipocytes and osteoblasts. Perilipin 1 (PLIN1) and Perilipin 4 (PLIN4) are members of the PATS family of genes and are involved in lipolysis of intracellular lipid deposits. A previous study reported gender-specific associations between one polymorphism of PLIN1 and bone mineral density (BMD) in a Japanese population. We hypothesized that polymorphisms in PLIN1 and PLIN4 would be associated with bone measures in adult Caucasian participants of the …
A novel two base pair deletion in the factor V gene associated with severe factor V deficiency
2001
We studied a family in which the proband, a 13-year-old boy, had unmeasurable plasma levels of coagulation factor V antigen and activity. Clinical symptoms were severe, with several episodes of haemorrhages in the mucosal tracts (gastrointestinal, nose and urinary) and recurrent haemarthroses that caused permanent arthropathy. Sequence analysis of the factor V gene demonstrated the presence of a novel 2 base pair (bp) homozygous deletion in exon 13 at positions 2833-2834. This mutation, present in the heterozygous state in the asymptomatic mother and absent in the healthy brother, introduced a frameshift and a premature stop at codon 900. This would predict the synthesis of a truncated fact…
Sex Differences in Feedback: Effects on Rod-and-Frame Performance
1979
It has been demonstrated that feedback is effective in changing rod-and-frame performance for women if given the opportunity to adjust the rod to the vertical repeatedly from the same starting position. It is also shown that the significant difference between males and females in the Rod-and-frame Test is carried by the large difference in the initial tilting position.
Validation of a Model for Identification of Patients at Intermediate to High Risk for Complications Associated With Acute Symptomatic Pulmonary Embol…
2015
For patients with acute symptomatic pulmonary embolism (PE), the Bova score classifies their risk for PE-related complications within 30 days after diagnosis. The original Bova score was derived from 2,874 normotensive patients with acute PE who participated in one of six prospective PE studies.We retrospectively assessed the validity of the Bova risk model in normotensive patients with acute PE diagnosed in an academic urban ED. Two clinician investigators used baseline data for the model's four prognostic variables to stratify patients into the three Bova risk stages (I-III) for 30-day PE-related complications. Intraclass correlation coefficient (ICC) and the κ statistic were used to asse…
Molecular Basis of Hereditary C1q Deficiency
1998
Abstract Complete selective deficiencies of the complement component C1q are rare genetic disorders which are associated with recurrent infections and a high prevalence of lupus erythematosus-like symptoms. The improvements in molecular biology techniques have facilitated the analysis of such genetic defects to a great extend. To date the basis of C1q deficiencies from 13 families have been studied at the genetic level. In each case single base mutations leading to either termination codons, frame shift or amino acid exchanges were thought to be responsible for these defects as no other aberrations were found. In addition to DNA analysis, conventional immunochemical and biochemical methods …
A novel approach to define risk of stent thrombosis after percutaneous coronary intervention with drug-eluting stents: the DERIVATION score.
2009
Recent studies of drug-eluting stents (DES) use in routine clinical practice have led to concern regarding their long-term safety and to questions about the adequacy of current antiplatelet therapy guidelines. This study sought to derivate a risk score for predicting stent thrombosis after drug-eluting stenting. The large single center DES Real-world Incremental Value in the erA of percutaneous revascularizaTION (DERIVATION) database, collecting data about 1,377 patients of any age undergoing PCI with DES as treatment for symptomatic coronary artery disease, was use for this purpose. Logistic regression and bootstrap procedure were used to select correlates of stent thrombosis that were sub…
Use of QT intervals for a more accurate diagnose of syncope and evaluation of syncope severity.
2014
Abstract BACKGROUND: This study aimed to evaluate the use of QT intervals, their diagnostic predictive value in patients with syncope and their relationship with syncope severity. METHODS: One hundred and forty nine patients with a diagnosis of syncope were admitted to Internal Medicine departments at the University of Palermo, Italy, between 2006 and 2012, and 140 control subjects hospitalised for other causes were enrolled. QT maximum, QT minimum, QTpeak, QT corrected, QT dispersion and Tpeak-to-Tend interval were compared between two groups. The paper medical records were used for scoring with San Francisco Syncope Rule (SFSR), Evaluation of Guidelines in SYncope Study (EGSYS) score and …
Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.
2012
Abstract Objectives Mutation analysis of the alpha-galactosidase A (GLA) gene is a valuable tool for the diagnosis of affected families. In our work, we analyze about one thousand samples per year from patients suspected of having Fabry disease (FD). Design and methods We carried out high resolution melting analysis (HRM) and DNA sequencing of all the exons of the GLA gene. We also assayed the alpha-galactosidase A activity in patients' blood. Results In some members of one family, we identified a new mutation in the GLA gene, c.614delC. This is a deletion of a single nucleotide, a cytosine, in exon 4 of the gene which causes a frameshift mutation. Conclusions Patients with the c.614delC mu…