Search results for "PIDE"
showing 10 items of 6055 documents
Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene
2003
Abstract We describe a Sicilian family presenting a recessive form of hypercholesterolemia harboring a mutation of the autosomal recessive hypercholesterolemia (ARH) gene. In two of the three sibs, a 26-year-old male and a 22-year-old female, a severe hypercholesterolemia was diagnosed with very high levels of plasma cholesterol (15.9 and 12.2 mmol/l, respectively); tendon xanthomatas and xanthelasms were present and in the male proband was documented a diffuse coronary atherosclerotic disease with a rapid and fatal progression. Both the parents had normal or slightly increased levels of plasma cholesterol. All causes of secondary hypercholesterolemia were ruled out as well as an involvemen…
Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia
2009
Context: Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was found to be homozygous for a nonsense mutation in LMF1 gene (Y439X).Objective: The objective of the study was to investigate LMF1 gene in hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded.Results: The resequencing of LMF1 gene led to the discovery of a novel homozygous nonsense mutation in one patient with severe hypertriglyceridemia and recurrent epis…
Bacteremia following dental implant surgery : preliminary results
2010
Objectives: The aims of this study were to investigate the incidence of bacteremia, bacteriology and antibiotic susceptibility against to causative bacteria associated with dental implant installation. Study Design: 30 generally healthy patients were enrolled in this study. Blood samples were collected at baseline and at 30 minutes after dental implant installation and 24 hours after dental implant surgery. Blood samples were cultured in a BACTEC system. The isolated bacteria were identified using conventional methods. Antimicrobial sensitivity tests were performed by disc diffusion. Results: No bacteria were isolated at the baseline and 24 hours after surgery, whereas the prevalence of bac…
Papillary thyroid cancer incidence in the volcanic area of Sicily.
2009
Abstract BACKGROUND: The steadily increasing incidence of thyroid cancer has been attributed mostly to more sensitive thyroid nodule screening. However, various environmental factors, such as those associated with volcanic areas, cannot be excluded as risk factors. We evaluated thyroid cancer incidence in Sicily, which has a homogenous population and a province (Catania) that includes the Mt Etna volcanic area. METHODS: In a register-based epidemiological survey, we collected all incident thyroid cancers in Sicily from January 1, 2002, through December 31, 2004. The age-standardized incidence rate for the world population (ASR(w)) was calculated and expressed as the number of thyroid cancer…
Attrition and Use of Proxy Respondents and Auxiliary Information in the Sicilian Neuroepidemiologic Study
1994
Two-phase prevalence surveys with screening (phase 1) and examination (phase 2) are useful for some chronic diseases. Attrition, which may bias estimates, occurs in either phase because some eligible subjects die before contact, some refuse to cooperate, some are incapacitated, and some are unreachable. This investigation relates to a survey of neurologic diseases conducted in three municipalities of Sicily (prevalence date, November 1, 1987) and considers the attrition experienced and the use of proxy respondents in phase 1 and auxiliary information in phase 2 to offset, in part, this attrition. Regarding case finding, the salvage effort was more productive for decreased and incapacitated …
Subtyping treatment-seeking gaming disorder patients
2021
Abstract Background and aims Gaming Disorder (GD) is characterized by a pattern of persistent and uncontrolled gaming behavior that causes a marked impairment in important areas of functioning. The evolution of the worldwide incidence of this disorder warrants further studies focused on examining the existence of different subtypes within clinical samples, in order to tailor treatment. This study explored the existence of different profiles of patients seeking treatment for GD through a data-driven approach. Methods The sample included n = 107 patients receiving treatment for GD (92% men and 8% women) ranging between 14 and 60 years old (mean age = 24.1, SD = 10). A two-step clustering anal…
Early developmental milestones in adult schizophrenia and other psychoses. A 31-year follow-up of the Northern Finland 1966 Birth Cohort
2001
Abstract Delayed childhood development may precede adult psychoses. We tested this hypothesis in a large, general population birth cohort (n=12 058) followed to age 31 years. The ages at which individuals learned to stand, walk, speak, and became potty-trained (bowel control) and dry (bladder control), were recorded at a 1-year examination. Psychiatric outcome was ascertained through linkage to a national hospital discharge register. Cumulative incidence of DSM-III-R schizophrenia, other psychoses and non-psychotic disorders were stratified according to the timing of milestones and compared within the cohort using internal standardization. 100 cases of DSM-III-R schizophrenia, 55 other psyc…
Trends in mortality related to pulmonary embolism in the European Region, 2000-15: analysis of vital registration data from the WHO Mortality Database
2020
Summary Background European estimates of the burden imposed by pulmonary embolism are not available to this date. We aimed to assess pulmonary embolism-related mortality and time trends in the WHO European Region. Methods We analysed vital registration data from the WHO Mortality Database (2000–15) covering subregions of the WHO European Region: Eastern Europe, Northern Europe, Southern Europe, Western Europe, and Central Asia. Deaths were considered pulmonary embolism-related if International Classification of Disease-10 code for acute pulmonary embolism (I26) or any code for deep or superficial vein thrombosis was listed as the primary cause of death. We used locally estimated scatterplot…
Different prognosis in hospitalized patients with influenza one season after the pandemic H1N1 influenza of 2009-2010 in Spain
2013
Background The present report compares prognosis in hospitalized cases with the H1N1 pandemic virus in two seasons. Methods Two series of hospitalized patients with laboratory-confirmed H1N1 pandemic influenza have been compared: 813 in the season 2009–2010 and 707 in the season 2010–2011. A detailed history of variables preceding hospital admission and during hospitalization was obtained by interview and clinical charts. A combined endpoint of death admission to intensive care was used as outcome due to the low number of deaths. Logistic regression was applied in the analysis for adverse outcome. Results Patients of the second season had different characteristics than in the first one (old…
Impact of SARS-CoV-2 infection in patients with cystic fibrosis in Spain: Incidence and results of the national CF-COVID19-Spain survey
2020
CF-COVID19-Spain Registry Group.