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- Lind, Lisbet K, et al.
(författare)
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EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families
- 2006
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Ingår i: BMC Medical Genetics. - : BioMed Central. - 1471-2350. ; 7, s. 80-
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterized by defective development of teeth, hair, nails and eccrine sweat glands. Both autosomal dominant and autosomal recessive forms of HED have previously been linked to mutations in the ectodysplasin 1 anhidrotic receptor (EDAR) protein that plays an important role during embryogenesis.METHODS: The coding DNA sequence of the EDAR gene was analyzed in two large Swedish three-generational families with autosomal dominant HED.RESULTS: A non-sense C to T mutation in exon 12 was identified in both families. This disease-specific mutation changes an arginine amino acid in position 358 of the EDAR protein into a stop codon (p.Arg358X), thereby truncating the protein. In addition to the causative mutation two polymorphisms, not associated with the HED disorder, were also found in the EDAR gene.CONCLUSION: The finding of the p.Arg358X mutation in the Swedish families is the first corroboration of a previously described observation in an American family. Thus, our study strengthens the role of this particular mutation in the aetiology of autosomal dominant HED and confirms the importance of EDAR for the development of HED.
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| 3. |
- Schmitt-Egenolf, Marcus
(författare)
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PsoReg : the Swedish registry for systemic psoriasis treatment. The registry's design and objectives.
- 2007
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Ingår i: Dermatology. - : S. Karger. - 1018-8665 .- 1421-9832. ; 214:2, s. 112-117
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Tidskriftsartikel (refereegranskat)abstract
- With the introduction of new systemic drugs for the management of psoriasis, we felt an obligation in Sweden to establish a trusted tool to monitor their use. We formed PsoReg to create a solid, long-term database in order to analyze safety and effectiveness of different systemic psoriasis treatment regimens. PsoReg will provide information to help clinicians individualize therapy on a rational basis through evaluation of effectiveness and adverse effects in specific patient subgroups. Designed and managed by specialized health care professionals, PsoReg will enroll all psoriasis patients on systemic treatment to allow a fair comparison of old versus new-generation psoriasis treatments. PsoReg will even create benchmark data for quality assurance of the medical service. A web-based design allows real-time pharmacovigilance and enables the registry to assist clinicians in their day-to-day management of psoriasis patients. In this way PsoReg can become an integrated part of tomorrow’s dermatology.
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| 4. |
- Schmitt-Egenolf, Marcus
(författare)
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Psoriasis therapy in real life : the need for registries
- 2006
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Ingår i: Dermatology. - : S. Karger. - 1018-8665 .- 1421-9832. ; 213:4, s. 327-330
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Tidskriftsartikel (refereegranskat)abstract
- The introduction of new therapeutic options for the management of psoriasis is a challenge for the dermatology community, and new tools are needed to face this challenge. This article argues for the establishment of profession-based registries to collect solid, long-term data on the safety and effectiveness of different psoriasis treatment regimens. Managed by health care professionals, registries will be most successful if they enroll patients based on indications for treatment rather than on drugs given. This protects the evaluation process from commercial influences and allows a fair comparison of old- versus new-generation psoriasis treatments. In contrast to the patients in a registry who receive care in the natural clinical setting, subjects in randomized clinical trials (RCTs) are selected according to study criteria and may therefore not reflect the experience of patients in clinical practice. It is possible that particular risks and opportunities in the real patient population may therefore go undetected in RCTs.Copyright © 2006 S. Karger AG, Basel
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