Search results for "Base"
showing 10 items of 8362 documents
Strategy for Long-Term Surveillance at the German Childhood Cancer Registry - an Update
2011
Background The objective of this paper is to provide information about the quality (e.g. completeness, response) of long-term surveillance in German paediatric oncology and haematology based on the structures implemented by the German Childhood Cancer Registry (GCCR). Methods The GCCR contacts parents or patients to collect and update information on a minimal set of follow-up health status data (e.g. late relapses, subsequent neoplasms, current address) and exchanges this information regularly with the appropriate clinical trials. Results Between 2006 and 2010, GCCR approached a total of about 20,000 patients (contact at the age of 16 years, inquiry concerning the health status) in the cont…
Optimizing strategies for meningococcal C disease vaccination in Valencia (Spain)
2014
Background: Meningococcal C (MenC) conjugate vaccines have controlled invasive diseases associated with this serogroup in countries where they are included in National Immunization Programs and also in an extensive catch-up program involving subjects up to 20 years of age. Catch-up was important, not only because it prevented disease in adolescents and young adults at risk, but also because it decreased transmission of the bacteria, since it was in this age group where the organism was circulating. Our objective is to develop a new vaccination schedule to achieve maximum seroprotection in these groups. Methods: A recent study has provided detailed age-structured information on the seroprote…
Mean temperature and humidity variations, along with patient age, predict the number of visits for renal colic in a large urban Emergency Department:…
2012
Background: A marked geographic variability has been reported in stone disease, partially attributed to the Mean Annual Temperature (MAT), as well as to the seasonal fluctuations of climatic conditions. Accordingly, peaks in Emergency Department (ED) visits for renal colic are commonplace during the summer. Materials and methods: The aim of this study was to assess the influence of day-by-day climate changes on the number of visits as a result of renal colic in the ED (City of Parma, northern Italy, temperate continental climate). A total of 10,802 colic episodes were retrieved from the database during a period of 3286 days (January 2002 to December 2010). Results: The analysis of the data …
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…
The association between diabetes and cataract among 42,469 community-dwelling adults in six low- and middle-income countries
2018
Background: Cataract is a major cause of visual impairment in people with diabetes, yet a paucity of data is available in low- and middle-income countries (LMICs) on this comorbidity. Thus we assessed the association between diabetes and cataract in 6 LMICs. Methods: Cross-sectional, community-based data from the Study on Global Ageing and Adult Health (SAGE) was analyzed (n = 42,469 aged ≥18 years). Five years information on self-reported diagnosis of cataract was collected. Three definitions for cataract were used: (a) Self-reported diagnosis and/or past 12-month symptoms; (b) Solely self-reported diagnosis; and (c) Surgical treatment for cataract in the past five years. Diabetes was base…
Successful application of preimplantation genetic diagnosis for hypokalaemic periodic paralysis.
2009
Hypokalaemic periodic paralysis is a rare dominant inherited disease where a person suffers sudden falls of circulating potassium concentrations, producing muscle weakness and sometimes severe paralysis. Attacks can occur as frequently as several times a day or once in a year. The age of onset is usually adolescence but symptoms can appear as early as 10 years of age. Muscle weakness can compromise vital functions such as breathing or swallowing and heart arrhythmias are also frequent during attacks. Preimplantation genetic diagnosis, an early form of prenatal diagnosis for couples at risk of transmitting inherited diseases, was used to prevent the transmission of this disease. Six polymorp…
The value of the short-term fetal heart rate variation for timing the delivery of growth-retarded fetuses.
2008
OBJECTIVE: To assess the clinical value of the short-term fetal heart rate variation (STV) for timing the delivery of severely growth-retarded fetuses, many associated with pre-eclampsia. DESIGN: Retrospective cohort study. SETTING: John Radcliffe Maternity Hospital, Oxford, UK. POPULATION: Two hundred and fifty-seven fetuses with a birthweight less than third percentile and a last computerised cardiotocography performed within 24 h of delivery. METHODS: Analysis of the relationship between antepartum STV and the perinatal outcome. MAIN OUTCOME MEASURES: Stillbirth rate and the acid-base status at birth. RESULTS: There were no stillbirths or neonatal deaths (NNDs) within 24 h in the study p…
Molecular analysis of the erythropoietin receptor system in patients with polycythaemia vera
1994
Summary Erythropoietin (EPO) is a potent regulator of the viability, proliferation and differentiation of erythroid progenitor cells. Its effect is mediated by binding to the erythropoietin receptor (EPO-R), a member of a new cytokine receptor family. Alterations of the EPO/EPO-R system have recently been shown to be involved in the pathogenesis of familial erythrocytosis and polycythaemia vera (PV). In order to define whether genetic changes in the EPO-R gene and its ligand play a role in the development of PV, the structure and expression levels of the EPO-R and EPO genes were examined in samples from bone marrow and/or peripheral blood mononuclear cells of 24 patients with PV. As expecte…
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…