Background: Haemophilia is a congenital disorder of coagulation with high economic burden due to its requirement for an expensive, lifelong replacement therapy, with additional costs for the frequent complications and for the severe handicapping consequences. The objective of this cross-sectional study aimed at giving an insight into the health condition of young haemophiliacs in the absence of a regular prophylactic therapy.
Methods: It was conducted on a heterogeneous group of 37 children and adolescents (4-24 years of age), with similar on demand therapeutic regimen, coming from the whole country, focusing on the joint status by using the Haemophila Joint Health Score (HJHS) system and on quality of life (QoL) by using the EQ-5D-3L-Y questionnaire.
Results: The results revealed an impressive situation: 70.3 % with chronic arthropathy, 19 % with target joints, 69 % with multiple joint involvement, mainly elbow (41 %) and knee (34 %), joint damage starting in the age group 6-12 years (18.18 % arthropathy vs. 96 % in the age group above 12 years). Joint score (6.67 ± 7.92), gait score (0.75 ± 1.14) and HJHS (7.43 ± 8.78) were highly correlated (r = 0.7, p = 0.001) with the annualised bleeding rate ABR (16.2 ± 12.1). They impacted the QoL in all domains, also expressed by a VAS of 68.39 ± 21.6.
Conclusion: We concluded that in the situation of an international consensus that prophylactic replacement can prevent cost-effectively and cost-efficiently the deleterious joint damages, our study is supporting the introduction even of secondary and tertiary prophylaxis in young patients in our country.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.5482/HAMO-17-01-0007 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Radon Exposure and Gestational Diabetes.
JAMA Netw Open
January 2025
Department of Obstetrics and Gynecology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York.
Importance: Understanding environmental risk factors for gestational diabetes (GD) is crucial for developing preventive strategies and improving pregnancy outcomes.
Objective: To examine the association of county-level radon exposure with GD risk in pregnant individuals.
Design, Setting, And Participants: This multicenter, population-based cohort study used data from the Nulliparous Pregnancy Outcomes Study: Monitoring Mothers-to-Be (nuMoM2b) cohort, which recruited nulliparous pregnant participants from 8 US clinical centers between October 2010 and September 2013.
Application of active biomonitoring technique for the assessment of air pollution by potentially toxic elements in urban areas in the Kemerovo Region, Russia.
Environ Monit Assess
January 2025
Municipal Budgetary Educational Institution "Lyceum of the City of Yurga", St. Kirova, 7, Yurga, Kemerovo Region, 652055, Russia.
In Kemerovo Region (Kuzbass, Southwest Siberia), there is the largest coal basin in Russia and one of the largest in the world. Active moss biomonitoring was applied to assess the impact of potentially toxic elements on air pollution in five urban areas of the region. In each of the chosen urban regions, the moss bags were exposed in November and December of 2022 at locations with varying degrees of anthropogenic pressure.
View Article and Find Full Text PDFPharmacogenetic guided drug therapy - how to deal with phenoconversion in polypharmacy?
Expert Opin Drug Metab Toxicol
January 2025
Institute of Psychology, University of Innsbruck, Austria.
Introduction: The prevalence of polypharmacy and the increasing availability of pharmacogenetic information in clinical practice have raised the prospect of data-driven clinical decision making when addressing the issues of drug-drug interactions and genetic polymorphisms in metabolizing enzymes. Inhibition of metabolizing enzymes in drug interactions can lead to genotype-phenotype discrepancies (phenoconversion) that reduce the relevance of individual pharmacogenetic information.
Areas Covered: The aim of this review is to provide an overview on existing models of phenoconversion and we discuss how phenoconversion models may be developed to estimate joint drug-interactions and genetic effects.
Prevalence and risk factors of gastroesophageal reflux disease among adults attending primary healthcare in Bahrain.
J Family Med Prim Care
December 2024
Associate Professor, Department of Family and Community Medicine, Arabian Gulf University, Kingdom of Bahrain.
Background: Gastroesophageal reflux disease (GERD) is one of the most diagnosed digestive disorders, with much-conducted research assessing its prevalence and risk factors associated with it worldwide. However, there are no published previous studies to determine such disease and its burden in Bahrain. Hence, this study aims to estimate the prevalence and evaluate the risk factors associated with GERD among adults attending primary care in Bahrain.
View Article and Find Full Text PDFAssociation of Anatomical Features of the Petrotympanic Fissure and Presence of Foramen of Huschke With Temporomandibular Disorders.
J Oral Rehabil
January 2025
Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Ankara Medipol University, Ankara, Turkey.
Background: The foramen of Huschke (FH) and the petrotympanic fissure (PTF) are anatomical structures that can influence temporomandibular joint disorders (TMD) by potentially affecting the movement and function of the mandibular condyle.
Objective: This study investigates the relationship between patients with TMD and the presence of FH and PTF to enhance diagnostic and therapeutic approaches.
Methods: This retrospective study analyzed cone beam computed tomography (CBCT) images from 212 patients.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!