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Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project.
Orphanet J Rare Dis
January 2025
Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Únicas SJD Center, Hospital Sant Joan de Déu, Barcelona, Spain.
Background: Rare diseases (RDs) are a heterogeneous group of complex and low-prevalence conditions in which the time to establish a definitive diagnosis is often too long. In addition, for most RDs, few to no treatments are available and it is often difficult to find a specialized care team.
Objectives: The project "acERca las enfermedades raras" (in English: "bringing RDs closer") is an initiative primary designed to generate a consensus by a multidisciplinary group of experts to detect the strengths and weaknesses in the public healthcare system concerning the comprehensive care of persons living with a RD (PLWRD) in the region of Catalonia, Spain, where a Network of Clinical Expert Units (Xarxa d'Unitats de Expertesa Clínica or XUEC) was created and is being implemented since 2015.
Raynaud Syndrome Associated with Medication for Attention-Deficit/Hyperactivity Disorder: A Systematic Review.
CNS Drugs
January 2025
Faculty of Environmental and Life Sciences, Centre for Innovation in Mental Health, School of Psychology, University of Southampton, Southampton, UK.
Background: Raynaud syndrome (RS) is a peripheral vasculopathy characterised be impaired acral perfusion typically manifesting as skin discolouration with pallor, cyanosis and/or erythema, and increased sensitivity to cold. RS may be primary or secondary to systemic disease, lifestyle and environmental factors or medication. RS has been reported with medication to treat ADHD, but we found no recent comprehensive overview of the literature.
View Article and Find Full Text PDFDifferent keratoconus definitions can lead to substantial prevalence disparities in population-based studies.
Sci Rep
January 2025
Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.
This report explores the prevalence of keratoconus in a population-based cohort of adults aged 40 or older according to ten different definitions. All Rotterdam Study participants with reliable Pentacam scans and no prior corneal refractive surgery were cross-sectionally analysed (n = 2660). First, we applied a novel evidence-based definition.
View Article and Find Full Text PDFChronic disease prevalence and preventive care among Ontario social housing residents compared with the general population: a population-based cohort study.
J Epidemiol Community Health
January 2025
Department of Family Medicine, McMaster University, Hamilton, Ontario, Canada.
Background: Older adults living in social housing report poor health and access to healthcare services. This study aimed to estimate the prevalence of chronic diseases, influenza vaccination and cancer screenings among social housing residents versus non-residents in Ontario, Canada.
Methods: We conducted a population-based cohort study for all health-insured Ontarians alive and aged 40 or older as of 1 January 2020.
Incidentally discovered inflammatory pseudotumour of the spleen: understanding clinical manifestations and diagnosis.
BMJ Case Rep
January 2025
Surgical Oncology, Guthrie Robert Packer Hospital, Sayre, Pennsylvania, USA.
A splenic inflammatory pseudotumour (IPT) is a rare condition in which inflammatory cells and non-cancerous specialised cells known as myofibroblasts abnormally replicate in the spleen. Patients with IPT may experience symptoms like abdominal pain, fever and weight loss, making it difficult to distinguish from processes like cancer. As a result, diagnosing IPT often requires imaging studies and microscopic examination.
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