AN HPLC/APCI METHOD, USING PARTLY MISCIBLE SOLVENTS, FOR A SIMPLE SEPARATION AND DETERMINATION OF STEROLS IN BLOOD

PULMONARY EMBOLISM IN AN EMERGENCY CARE UNIT: EVALUATION OF PREDICTIVE FACTORS FROM CLINICAL HISTORY AND PHYSICAL EXAM

Objective: An early diagnosis of pulmonary embolism (PE) improves outcome. Therefore, PE should be diagnosed in Emergency Care Units (ECU) at admission. Clinical algorithms support the clinician in this task, although performance is biased by differences in risk factors prevalent in different populations. The clinical conditions predictive of PE were evaluated in subjects from Southern Italy accessing ECU for dyspnea/chest pain.Methods: Retrospective clinical data were obtained by electronic retrieving from a hospital database. Data from 8177 patients (age 18-90 years, 54 with PE) were collected from years 2007-2013.Results: Previous history of PE, thrombosis and/or phlebitis, rheumatic dis…

Comparison of two polygenic risk score to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects: Polygenic hypocholesterolemias

Background: Primary Hypobetalipoproteinemias (HBL) are a group of dominant and recessive monogenic genetic disorders caused by mutations in APOB, PCSK9, ANGPTL3, MTTP, Sar1b genes and characterized by plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5th percentile of the distribution in a given population. Mutations in the candidate genes account only for a small proportion of subjects with HBL suggesting a role for a polygenic contribution to the low cholesterol phenotype. Objective: To explore the complex genetic architecture of HBL we compared two polygenic risk scores in order to assess the role of the polygenic b…