Understanding the socioeconomic costs of dystrophic epidermolysis bullosa in Europe: a costing and health-related quality of life study

BACKGROUND: Dystrophic epidermolysis bullosa (EB) is a family of rare genetic dermatological conditions. Recent evidence indicated that in addition to its detrimental implications on patient health-related quality of life (HRQoL), there are substantial socioeconomic cost implications, especially regarding direct non-medical costs. This study aims to understand the burden of dystrophic EB (DEB) in Europe, using a primary EB patient-level dataset. METHODS: A bottom-up, cross-sectional, study design was adopted for non-institutionalised patients diagnosed with EB who received outpatient care across EU5 countries: France, Germany, Italy, Spain, and the United Kingdom. A prevalence-based approach was used to estimate resource utilisation from a societal perspective, including direct (medical and non-medical) and indirect costs for patients and caregivers. Patient and caregiver outcomes were obtained using the EQ-5D questionnaire. RESULTS: A sample of 91 DEB patients was analysed. Overall, average EU5 annual cost per patient was estimated at €53,359, ranging from €18,783 (France) to €79,405 (Germany). Average EU5 annual direct medical costs were estimated at €8357 (15.7% of total), ranging from €5658 (France) to €12,576 (Germany); average direct non-medical costs were estimated at €41,353 (77.5% of total), ranging from €11,961 (France) to €57,000 (Germany); and average indirect costs were estimated at €3649 (6.8% of total), ranging from €1025 (Italy) to €9930 (United Kingdom). Costs varied across patients with different disability but also between children and adults. The mean EQ-5D index score for adult DEB patients ranged between 0.304 (United Kingdom) and 0.541 (Germany), with an EU5 average of 0.456, whereas the mean EQ-5D visual analogue scale score ranged between 47.5 (Germany) and 70.0 (France), with an EU5 average of 61.9. Limitations included potential patient selection bias, recall bias, and exclusion of bandaging and related costs. CONCLUSIONS: The study revealed a substantial socioeconomic burden for DEB in Europe, attributable mostly to high direct non-medical costs, with the majority of patients requiring support from caregivers at home. Compared to the average economic burden of the overall EB patient population, costs for DEB patients are higher across all components of direct medical, direct non-medical and indirect costs

The psychological functioning of children with Epidermolysis Bullosa (EB) and its relationship with specific aspects of disease

Epidermolysis Bullosa (EB) is a group of genetic conditions resulting in skin and mucosal membrane fragility. EB is characterised by chronic wounds and scarring, consequent functional limitations and high levels of pain. In its most severe forms, life expectancy is significantly foreshortened

Devenir à l’âge adulte des enfants porteurs de pathologie chronique: Exemples de la transplantation rénale pour insuffisance rénale terminale et du diabète de type 1

Although chronic diseases affect social life at any age, the long-term social outcome of children with chronic disease is uncertain. Our objective was to describe social life, quality of life (QOL;SF36), sexuality and experience of transition from pediatric to adult care of pediatric renal transplant recipients (Transdevenir study) or children with type 1 diabetes (T1D)(Diabdevenir study) at adult age. Data of these two GEDEPAC French multicenter studies were collected by self-administered questionnaire (199 items) and compared with the general population (GP) by Standardized Incidence Ratios (SIR) matched for age-sex-period. In Transdevenir (n=374;median age (years) at survey=27.1;at 1st transplant=12.3;functioning graft=81%), difficulties of social integration were identified: less frequent marital life(SIR=0.60), lower educational level, higher unemployment (SIR=1.77) and fixed-term contracts (SIR=1.79) rates. The social participation was negatively correlated to: disease severity (early diagnosis, hereditary disease, comorbidity), lower personal or parental educational level, and young age. The global QOL was reduced.In Diabdevenir (n=388; mean age=28.5±3.1yrs;mean DT1 duration=17±2.7yrs), social participation was satisfying (educational level, unemployment and familial life similar to GP). However, the daily alcohol consumption was more frequent (SIR=men:3.1;women:6.1), as well as dissatisfaction withsexuality, and mental QOL was significantly decreased. To develop research on long-term well-being of children with other chronic diseases, the GEDEPAC-2 questionnaire was constructed (validation in progress).Bien que les maladies chroniques affectent à tout âge la vie sociale, le devenir social à long terme des enfants malades est mal connu. Notre objectif était d’évaluer l’insertion sociale, la qualité de vie (QDV;SF36), la sexualité et le vécu de la transition pédiatrie-médecine adulte d’adultes transplantés rénaux (étude Transdevenir) et diabétiques de type 1 (DT1)(étude Diabdevenir) dans l’enfance. Les données de ces 2 études GEDEPAC multicentriques françaises étaient recueillies par auto-questionnaire (199 items) et comparées à la population générale (PG) par Ratios Standardisés d’Incidence (RSI) appariés sur âge-sexe-période. Dans Transdevenir (n=374;âge médian à l’enquête=27,1 ans;à 1ère greffe=12,3 ans; greffon fonctionnel=81%), des difficultés d’intégration sociale étaient identifiées : vie en couple moins fréquente (RSI=0,60), niveau de diplôme inférieur, chômage (RSI=1,77) et contrats à durée déterminée (RSI=1,79) plus fréquents. L’insertion était négativement corrélée à: sévérité de la maladie (diagnostic précoce, maladie héréditaire, comorbidité), faible niveau éducatif personnel ou parental, et âge jeune. La QDV globale était diminuée. Dans Diabdevenir (n=388;âge moy=28,5±3,1 ans;durée moy du DT1=17±2,7 ans), l’insertionsociale était satisfaisante (niveau d'études, chômage et vie de famille similaires à PG). Cependant, la consommation quotidienne d'alcool était plus fréquente (RSI=hommes:3,1;femmes:6,1), de même que l’insatisfaction sexuelle, et la QDV mentale était significativement altérée. Pour développer la recherche sur le bien-être à long terme dans d’autres maladies chroniques, le questionnaire GEDEPAC-2 a été construit (validation en cours)

A portable instrument for measuring macular pigment with central fixation

urpose: To evaluate the reliability and validity of a portable instrument for measuring macular pigment optical density. Methods: The instrument is small, uses light emitting diodes as light sources and the principles of heterochromatic flicker photometry of comparing foveal and extra-foveal minimum flicker matches. It uses central fixation for the extra-foveal matches, which subjects found easier than eccentric fixation. Subjects with healthy eyes used the instrument to measure their pigment density in a number of eye clinics. Results: The mean pigment density in 124 eyes in 124 individuals was 0.41 +/- 0.16 (mean +/- sd), there was no significant change with age but the density was less in females, those with light irides, smokers, subjects on diets low in precursor carotenoids and in those exposed to several hours of daylight every day or who used sun beds. Conclusions: The portable instrument gave valid and reliable data that confirmed published values for macular pigment. It was convenient to use in the clinic and has potential as a screening tool

Lipophilic components from the Ecuadorian plant Schistocarpha eupatorioides.

Phytochemical investigation of secondary metabolites of the Ecuadorian plant Schistocarpha eupatorioides (Fenzl) Kuntze (Asteraceae) afforded three phytyl fatty acid esters along with a mixture of unidentified polyprenols, the very well known sterols β-sitosterol and stigmasterol, and their corresponding fatty acid esters and glucosyl derivatives. The structures of the compounds were elucidated on the basis of various spectroscopic means. In addition, a volatile fraction was separated the composition of which, comprising sesquiterpene hydrocarbons as the main fraction, was determined by GC-MS

Chemical composition and antimicrobial activity of Myrcianthes fragrans essential oil, a natural aromatizer of the traditional Ecuadorian beverage colada morada

Ethnobotanical and ethnomedicinal relevance: The importance given in Ecuador to the rescue of traditional knowledge and nutritional value of ancestral foods and drinks, has stimulated our investigation of the chemical composition and some biological activities of M. fragrans (‘arrayán’) essential oil, a natural aromatic additive used in the preparation of the traditional fruit-juice ‘colada morada’ which is typically drunk in the Day of the Dead or All Soul´s Day. Material and methods: Different essential oils of Myrcianthes fragrans (Sw.) McVaught were obtained by hydrodistillation of the aerial parts of the plant collected in Cerro Villonaco (Loja-Ecuador) at three different phenological growth stages, i.e., during foliation (Fo), flowering (Fl) and fruiting (Fr) stages. The chemical compositions of the essential oils were determined by GC/MS and GC/FID techniques. The antimicrobial activities were determined by the broth microdilution method and reported as minimal inhibitory concentration (MIC, ug/mL). Aims of the study: i) to investigate the traditional uses of arrayán (M. fragrans) in the South region of Ecuador; ii) to identify the main components of the essential oils isolated at different phenological stages; iiì) to test the antimicrobial activity of the essential oils against bacteria and yeasts causing human ailments and a yeast causing food spoilage. Results: 37, 46 and 38 compounds, representing 96.5%, 96.2%, and 95.6% of the three essential oils (Fo, Fl and Fr), respectively, have been identified. Oxygenated monoterpenes (OM) were the major components with percentages of 63.1 (Fo), 49.4 (Fl), and 61.9% (Fr), respectively. The main constituents of the essential oils were the monoterpene aldehydes geranial (1) and neral (2), the content of which varied, depending on the phenological development stage of the plant, spanning from 31.1% and 23.6% (Fo), to 23.6% and 17.8% (Fl), and 29.7% and 24.3% (Fr), respectively. In vitro antimicrobial tests showed that the essential oils from M. fragrans exhibited good activity against the Gram-negative bacteria, K. pneumoniae, and against the yeasts, C. albicans and S. cerevisiae. Conclusions: The oil is characterized by a high concentration of the monoterpene aldehydes geranial and neral (citral), that make the aroma of colada morada prepared in southern Ecuador quite different from the beverage made in other regions of the country, where other types of myrtles (Myrtaceae spp.) are used. Moreover, the oil may become a new rich source of the important industrial chemical citral. The pleasant aromatic properties and the good in vitro antimicrobial activity of arrayán oil suggest a plausible scientific explanation for the traditional uses of the plant not only as a natural aromatizer of a traditional beverage but also as a natural anti-infective and anti-yeast agent

Costs of UK community care for individuals with recessive dystrophic epidermolysis bullosa:Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study

Background Recessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin fragility disorder requiring multidisciplinary management. Information regarding costs of current standard treatment is scant. Objectives As part of a longitudinal natural history study, we explored the community care costs of UK patients with different forms of RDEB. Methods Fifty-nine individuals with RDEB provided detailed information on multiple facets of RDEB including disease severity scores (iscorEB, BEBS) and patient reported outcomes (quality of life evaluation in epidermolysis bullosa, iscorEB patient questionnaire). Costs data included time spent doing dressings, frequency of dressing changes, details of materials used, and paid and unpaid care. Results Overall costs of dressing materials and associated care were high in RDEB. Median annual costs across all subtypes for those using dressings (n = 51) were over £26 000. For severe RDEB (RDEB-S), median costs were almost £90 000 per annum, with a median of 18 h per week spent on dressing changes. Half of working-age adults with RDEB were unemployed and 39time or part-time paid employment, adding to indirect costs and the financial burden from RDEB on families and society. Conclusions The findings demonstrate the high costs of care of RDEB, particularly for RDEB-S. The current expense supports the drive to develop new therapies which accelerate wound healing and diminish total wound burden, thereby reducing costs of dressings and care. While costly to bring to market, these might ultimately reduce the overall cost of treatment and also the impact on individuals living with this rare disease. The data also highlight the need for adequate reimbursement for EB care which can place significant financial strain on families.<br/