| 1. |
- Chernyshov, P. V., et al.
(författare)
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Quality of life measurement in acne. Position Paper of the European Academy of Dermatology and Venereology Task Forces on Quality of Life and Patient Oriented Outcomes and Acne, Rosacea and Hidradenitis Suppurativa
- 2018
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Ingår i: Journal of the European Academy of Dermatology and Venereology. - : Wiley. - 0926-9959. ; 32:2, s. 194-208
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Forskningsöversikt (refereegranskat)abstract
- Acne causes profound negative psychological and social effects on the quality of life (QoL) of patients. The European Dermatology Forum S3-Guideline for the Treatment of Acne recommended adopting a QoL measure as an integral part of acne management. Because of constantly growing interest in health-related QoL assessment in acne and because of the high impact of acne on patients' lives, the European Academy of Dermatology and Venereology Task Force on QoL and Patient Oriented Outcomes and the Task Force on Acne, Rosacea and Hidradenitis Suppurativa have documented the QoL instruments that have been used in acne patients, with information on validation, purposes of their usage, description of common limitations and mistakes in their usage and overall recommendations.
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| 2. |
- Dalgard, Florence J., et al.
(författare)
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Itch and Mental Health in Dermatological Patients across Europe : A Cross-Sectional Study in 13 Countries
- 2020
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Ingår i: Journal of Investigative Dermatology. - : Elsevier BV. - 0022-202X. ; 140:3, s. 568-573
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Tidskriftsartikel (refereegranskat)abstract
- Itch is a highly prevalent and multidimensional symptom. We aimed to analyze the association between itch and mental health in dermatological patients. This multicenter study is observational and cross-sectional and was conducted in dermatological clinics across 13 European countries. A total of 3,530 patients and 1,094 healthy controls were included. Patients were examined clinically. Outcome measures were itch (presence, chronicity, and intensity), the Hospital Anxiety and Depression Scale, EQ-5D visual analogue scale, sociodemographics, suicidal ideation, and stress (negative life events and economic difficulties). Ethical approval was obtained. Results showed significant association between the presence of itch in patients and clinical depression (odds ratio, 1.53; 95% confidence interval, 1.15–2.02), suicidal ideation (odds ratio, 1.27; 95% confidence interval, 1.01–1.60), and economic difficulties (odds ratio, 1.24; 95% confidence interval, 1.10–1.50). The mean score of reported generic health status assessed by the EQ-5D visual analogue scale was 65.9 (standard deviation = 20.1) in patients with itch, compared with 74.7 (standard deviation = 18.0) in patients without itch (P < 0.001) and 74.9 (standard deviation = 15.7) in controls with itch compared with 82.9 (standard deviation = 15.6) in controls without itch (P < 0.001). Itch contributes substantially to the psychological disease burden in dermatological patients, and the management of patients should include access to multidisciplinary care.
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| 3. |
- Leblond, Claire S, et al.
(författare)
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Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
- 2012
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Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 8:2
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Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 2010 (n=396 patients and n=659 controls). We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4%) patients and in 16 of 1,090 (1.5%) controls (P=0.004, OR=2.37, 95% CI=1.23-4.70). In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P=0.0013). Interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15q11-q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the "multiple hit model" for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD.
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| 4. |
- Misery, Laurent, et al.
(författare)
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White paper on psychodermatology in Europe : A position paper from the EADV Psychodermatology Task Force and the European Society for Dermatology and Psychiatry (ESDaP)
- 2023
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Ingår i: Journal of the European Academy of Dermatology and Venereology. - 0926-9959. ; 37:12, s. 2419-2427
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Tidskriftsartikel (refereegranskat)abstract
- Psychodermatology is a subspecialty of dermatology that is of increasing interest to dermatologists and patients. The case for the provision of at least regional psychodermatology services across Europe is robust. Psychodermatology services have been shown to have better, quicker and more cost-efficient clinical outcomes for patients with psychodermatological conditions. Despite this, psychodermatology services are not uniformly available across Europe. In fact many countries have yet to establish dedicated psychodermatology services. In other countries psychodermatology services are in development. Even in countries where psychodermatolgy units have been established, the services are not available across the whole country. This is especially true for the provision of paediatric psychodermatology services. Also whilst most states across Europe are keen to develop psychodermatology services, the rate at which this development is being implemented is very slow. Our paper maps the current provision of psychodermatology services across Europe and indicates that there is still very much more work to be done in order to develop the comprehensive psychodermatology services across Europe, which are so crucial for our patients.
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| 5. |
- Sampogna, Francesca, et al.
(författare)
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Measuring the impact of dermatological conditions on family and caregivers : a review of dermatology-specific instruments
- 2017
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Ingår i: Journal of the European Academy of Dermatology and Venereology. - : Wiley. - 0926-9959. ; 31:9, s. 1429-1439
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Forskningsöversikt (refereegranskat)abstract
- The patient is the centre of a web of relationships, and the impact of his/her disease on family members and caregivers must be taken into account. The aim of this study was to identify the specific instruments that measure the impact of a dermatological disease on the quality of life (QoL) of family members, by performing a systematic search of the literature. Fifteen papers were identified, describing the creation and validation of nine instruments. Four of them concerned atopic dermatitis (Dermatitis Family Index, DFI; Parents’ Index QoL Atopic Dermatitis, PiQoL-AD; QoL in primary caregivers of children with atopic dermatitis, QPCAD; Childhood Atopic Dermatitis Impact Scale, CADIS), two measured the impact of psoriasis in family members (Psoriasis Family Index, PFI; FamilyPso), one the impact of epidermolysis bullosa (Epidermolysis Bullosa Burden of Disease, EB-BoD), one of ichthyosis (Family Burden Ichthyosis, FBI), and one was generic for dermatological conditions (Family Dermatology Life Quality Index, FDLQI). The European Academy of Dermatology and Venereology quality of life taskforce recommends that the impact of a skin disease on family and caregivers should be measured as part of any thorough evaluation of the burden of a disease. Guidelines are given to choose the most appropriate instruments.
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