[Treatment of complex regional pain syndrome in the hand region from the perspective of physiotherapy]. / Therapie des komplexen regionalen Schmerzsyndroms im Handbereich aus Sicht der Physiotherapie.

BACKGROUND: Successful treatment of complex regional pain syndrome (CRPS) depends mainly on an early diagnosis and an adequate treatment concept with active participation of the patient. OBJECTIVE: Diagnostics and treatment recommendation of CRPS with localization on the hand. MATERIAL AND METHODS: Presentation and research of studies on treatment recommendations and the CRPS guidelines. RESULTS: The early diagnosis of CRPS, adequate pain therapy and treatment of CRPS based on the CRPS guidelines favor the successful course of treatment. Graded motor imagery training is the treatment of choice, especially in the acute phase and is essential for improving cortical representation, reducing pain and reintegration into the body image. CONCLUSION: Good patient education regarding the clinical picture and course of the disease form the basis for the treatment of CRPS. The patient should always be considered holistically and treated correspondingly by a multiprofessional team. Active involvement of the patient in the treatment from the beginning is always essential.

Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells.

BACKGROUND: Extracellular matrix proteins, such as laminins, and endothelial cells are known to influence cardiomyocyte performance; however, the underlying molecular mechanisms remain poorly understood. METHODS AND RESULTS: We used a forward genetic screen in zebrafish to identify novel genes required for myocardial function and were able to identify the lost-contact (loc) mutant, which encodes a nonsense mutation in the integrin-linked kinase (ilk) gene. This loc/ilk mutant is associated with a severe defect in cardiomyocytes and endothelial cells that leads to severe myocardial dysfunction. Additional experiments revealed the epistatic regulation between laminin-alpha4 (Lama4), integrin, and Ilk, which led us to screen for mutations in the human ILK and LAMA4 genes in patients with severe dilated cardiomyopathy. We identified 2 novel amino acid residue-altering mutations (2828C>T [Pro943Leu] and 3217C>T [Arg1073X]) in the integrin-interacting domain of the LAMA4 gene and 1 mutation (785C>T [Ala262Val]) in the ILK gene. Biacore quantitative protein/protein interaction data, which have been used to determine the equilibrium dissociation constants, point to the loss of integrin-binding capacity in case of the Pro943Leu (Kd=5+/-3 micromol/L) and Arg1073X LAMA4 (Kd=1+/-0.2 micromol/L) mutants compared with the wild-type LAMA4 protein (Kd=440+/-20 nmol/L). Additional functional data point to the loss of endothelial cells in affected patients as a direct consequence of the mutant genes, which ultimately leads to heart failure. CONCLUSIONS: This is the first report on mutations in the laminin, integrin, and ILK system in human cardiomyopathy, which has consequences for endothelial cells as well as for cardiomyocytes, thus providing a new genetic basis for dilated cardiomyopathy in humans.

Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR.

Williams-Beuren syndrome (WBS) is a rare genetic disorder (1/20,000-50,000) and is usually caused by a 1.5- to 1.8-Mb heterozygous deletion on chromosome 7q11.23. At least 25 genes have been identified in the deletion region in WBS patients, which is flanked by large low-copy-repeat sequences (> 320 kb). By using FISH as well as microsatellite analysis, it is not possible to get a precise identification of the size of the deletion. For determining the deletion size, we developed a reliable quantitative PCR approach. Our assay screens 2.5 Mb of the WBS region in 100- to 300-kb intervals. This methodology has been tested in DNA samples of 65 patients with the clinical suspicion of WBS. In every case we were able to exclude or to identify the presence of a deletion and to determine its size. Deletion size varied from 0.2 Mb to 2.5 Mb. The 2.5-Mb rearrangement represents the largest deletion described at present and it was detected in a severely affected patient. We report the detection efficiency of this new system and the genotype/phenotype correlation.