Search results for "Screening"
showing 10 items of 1150 documents
Health literacy in familial hypercholesterolemia: A cross-national study.
2018
Background High rates of inadequate health literacy are associated with maladaptive health outcomes in chronic disease including increased mortality and morbidity rates, poor treatment adherence and poor health. Adequate health literacy may be an important factor in the effective treatment and management of familial hypercholesterolemia, and may also be implicated in genetic screening for familial hypercholesterolemia among index cases. The present study examined the prevalence and predictors of health literacy in familial hypercholesterolemia patients attending clinics in seven countries. Design Cross-sectional survey. Methods Consecutive FH patients attending clinics in Australia, Brazil,…
Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutati…
2007
Familial hypercholesterolemia (FH) and familial defective apoB 100 (FDB) are characterized by increased plasma low-density lipoprotein cholesterol (LDLc) levels and risk of coronary heart disease (CHD). FDB is clinically indistinguishable from FH. The aims of this study were to evaluate clinical diagnosis criteria for FDB and to compare the lipoprotein phenotype between carriers of LDL receptor (LDLR) gene mutations that affect the ligand-binding domain and subjects with the R3500Q mutation in apoB gene. We studied 213 subjects (113 probands) with FH and 19 heterozygous FDB subjects. Genetic diagnosis was determined by following a protocol based on Southern blot and polymerase chain reactio…
Age of onset of drinking and the use of alcohol in adulthood: a follow-up study from age 8–42 for females and males
2005
Aim To investigate longitudinally for both genders the relation between the age of onset of drinking and several indicators of alcohol use. Design and setting In the Finnish Jyvaskyla Longitudinal Study of Personality and Social Development, data have been collected by interviews, inventories, and questionnaires. Data on alcohol consumption was gathered at ages 14, 20, 27, 36 and 42 years; behavioural data at age 8. Participants A total of 155 women and 176 men; 90.4% of the original sample consisting of 12 complete school classes in 1968. Measurements The age of onset of drinking was determined based on participants’ responses that were closest to the actual age of onset of drinking. Four …
High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.
2007
Mutation screening of the BRCA1 and BRCA2 genes in probands with familial breast/ovarian cancer has been greatly improved by the multiplex ligation-dependent probe amplification (MLPA) assay able to evidence gene rearrangements not detectable by standard screening methods. However, no criteria for selection of cases to be submitted to the MLPA test have been reported yet. We used the BRCAPro software for the selection of familial breast/ovarian cancer probands investigated with the MLPA approach after negative BRCA1/2 conventional mutation screening. One hundred and seventy-seven probands were investigated for germline BRCA1/2 mutations after assessment of genetic risk using BRCAPro. Proban…
PCA3 as a second-line biomarker in a prospective controlled randomized opportunistic prostate cancer screening programme
2017
Objectives: PCA3 performance as a single second line biomarker is compared to the European Randomised Study of Screening for Prostate Cancer risk calculator model 3 (ERSPC RC-3) in an opportunistic screening in prostate cancer (PCa). Material and methods: 5,199 men, aged 40-75y, underwent prostate-specific antigen (PSA) screening and digital rectal examination (DRE). Men with a normal DRE and PSA >= 3 ng/ml had a PCA3 test done. All men with PCA3 >= 35 underwent an initial biopsy (IBx) 12 cores. Men with PCA3 = 3 ng/ml and DRE is normal, IBx could be avoided in 12.5% less than if ERSPC RC-3 is used and would reduce the false negative cases by 36.2%. At a FU of 21.7 months, this dual protoco…
Retrospective case-control study of viral pathogen screening in proliferative verrucous leukoplakia lesions.
2014
Objective This study aimed to survey the presence of known oncoviruses in oral biopsies from patients diagnosed with the aetiologically undetermined proliferative verrucous leukoplakia and compare results to those from milder oral leukoplakia (OL) cases, oral squamous cell carcinoma, a common outcome of the lesions of interest, and healthy controls. Design Blind, retrospective, case–control study. Setting A stomatology unit in an academic Hospital and a Public Health laboratory. Participants Forty patients were divided in four groups. Ten patients had been diagnosed with proliferative verrucous leukoplakia, 10 with OL and 10 with OSCC, and 10 were healthy subjects. Main outcome measures The…
Basilar Artery Diameter Is a Potential Screening Tool for Fabry Disease in Young Stroke Patients
2010
<i>Background:</i> Fabry disease (FD) is a rare hereditary lysosomal storage disease that has been highlighted as a possible etiology of stroke at a young age. Enlarged basilar artery diameters (BADs) have been demonstrated in FD, and we hypothesize that they might be useful for the screening of FD in young stroke patients. The aim of this study was to compare BADs of young stroke patients without FD to those of FD patients and of healthy age-matched controls. <i>Methods:</i> BADs were measured using MR angiography in 3 age- and gender-matched groups: 25 FD patients (aged 36.5 ± 11.0 years), 26 non-FD stroke patients and 20 healthy controls. <i>Results:</i&g…
Door-to-door prevalence survey of epilepsy in three Sicilian municipalities
2001
A door-to-door prevalence survey of epilepsy was conducted in 3 Sicilian municipalities, as of November 1, 1987. In phase 1, the screening by questionnaire of 24,496 eligible subjects (participation = 92%) identified 544 suspected to have epilepsy. In phase 2, neurological evaluation of the 544 subjects yielded 111 with epilepsy. Of the 111 subjects, 103 (93%) had been previously diagnosed, 68 (61%) were taking antiepileptic medication, and 81 (73%) had active epilepsy. Referring to the 81 subjects with active epilepsy, the seizure type was generalized in 60 (74%), partial in 19 (23%) and undetermined in 2 (3%). The prevalence of active epilepsy (per 1,000 population) was 3.3 overall, 3.5 f…
Clinical features, disease progression and use of healthcare resources in a large sample of 866 patients from 24 headache centers: A real-life perspe…
2021
Objective: To develop a dedicated Italian chronic migraine (CM) database (IRON project) to overcome disease misconceptions, improve clinical administration, reduce patients' burden, and rationalize economic resource allotment.Background: Proper CM management requires a comprehensive appraisal of its full clinical, social, and economic complexity.Methods: In this cross-sectional study, CM patients were screened in 24 certified headache centers with face-to-face interviews. Information on sociodemographic factors, medical history, characteristics of CM, and of prior episodic migraine (EM), and healthcare resource use was gathered using a semistructured web-based questionnaire.Results: A total…
A validation study of an Italian version of the ID Migraine: preliminary results
2005
Migraine is a highly prevalent and disabling disease that is substantially undiagnosed in primary care. Recently, the ID Migraine, a self–administered questionnaire, was shown to be a valid and reliable screener for migraine in primary care in the USA. To validate an Italian version of the ID Migraine, we planned a multicentric study, evaluating at least 220 patients affected by various form of headache. The responses to the questionnaire were compared with the diagnosis of headache made by a headache specialist blind to the result of the questionnaire. Sensitivity, specificity, and positive and negative predictive values for migraine were calculated. The statistical analysis on 140 patient…