TY  - THES
A1  - Fischer, Michael Johannes
T1  - Körperliche Leistungsfähigkeit bei Patienten mit HLA B27 positiver juveniler idiopathischer Arthritis in Remission
T1  - Physical Fitness of Patients with HLA B 27 positive Juvenile Idiopathic Arthritis in Remission
N2  - Mit dieser Arbeit sollte untersucht werden, ob es eine Beeinträchtigung der körperlichen Leistungsfähigkeit bei Patienten bis zum 20. Lebensjahr mit inaktiver juveniler idiopathischer Arthritis bzw. einer Arthritis in Remission im Vergleich zu gesunden Gleichaltrigen gibt und wenn ja, ob ein Zusammenhang zu dem Eiweißkörper HLA B27 besteht.
N2  - 1 Introduction 1.1 Definition 1.2 Goal of this Thesis 2 Material and Methods 2.1 Description of the Test Persons 2.1.1 HLA B27-positive Patients 2.1.2 HLA B27-negative Patients with Arthritis 2.1.3 Healthy Controlls 2.2 Order of Study 2.2.1 Information and physical Examination 2.2.2 Wingate Test 2.2.3 Questionaire and VAS 2.2.4 Stresstest for measuring the Aerob Capacity 2.3 Analysis 3 Results 3.1 Wingate Test 3.1.1 Entire Test Persons 3.1.2 Triplets 3.2 Questionaire and VAS 3.2.1 Entire Test Persons 3.2.2 Triplets 3.3 Stresstest 3.3.1 Entire Test Persons 3.3.2 Triplets 4 Discussion 4.1 Test Persons 4.2 Wingate Tes 4.3 Questionaire and VAS 4.4 Stresstest 4.5 Summary 5 Conclusion Abbreviations Attachments Literature
KW  - Juvenile chronische Arthritis
KW  - Körperliche Leistungsfähigkeit
KW  - HLA-System
KW  - Fitnesstest
KW  - HLA B 27
KW  - Wingate Anaerobic Test
KW  - Stufentest
KW  - Aerobe Leistungsfähigkeit
KW  - Juvenile idiopathische Arthritis
KW  - Physical Fitness
KW  - Juvenile Idiopathic Arthritis
KW  - HLA B 27
KW  - Wingate Anaerobic Test
KW  - Stresstest
Y1  - 2011
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-67301
ER  - 
TY  - JOUR
A1  - Petersen, Jens A.
A1  - Kuntzer, Thierry
A1  - Fischer, Dirk
A1  - von der Hagen, Maja
A1  - Veronika, Angela
A1  - Lobrinus, Johannes A.
A1  - Kress, Wolfram
A1  - Rushing, Elisabeth J.
A1  - Sinnreich, Michael
A1  - Jung, Hans H.
T1  - Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects
JF  - BMC Neurology
N2  - Background: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. Methods: We evaluated clinical and genetic patient data from three different Swiss Neuromuscular Centers. 
Results: Thirteen patients from 6 non-related families were included. Age of onset was 18.8 +/- 4.3 years. In all patients, diallelic disease-causing mutations were identified in the DYSF gene. Nine patients from 3 non-related families from Central Switzerland carried the identical homozygous mutation, c.3031 + 2T>C. A possible founder effect was confirmed by haplotype analysis. Three patients from two different families carried the heterozygous mutation, c.1064_1065delAA. Two novel mutations were identified (c.2869C>T (p.Gln957Stop), c.5928G>A (p.Trp1976Stop)). 
Conclusions: Our study confirms the phenotypic heterogeneity associated with DYSF mutations. Two mutations (c.3031 + 2T>C, c.1064_1065delAA) appear common in Switzerland. Haplotype analysis performed on one case (c.3031 + 2T>C) suggested a possible founder effect.
KW  - gene mutations
KW  - miyoshi myopathy
KW  - gridle muscular-dystrophy
KW  - features
KW  - deficiency
KW  - heterogeneity
KW  - 2B
KW  - italian patients
KW  - molecular analysis
KW  - membrane repair
Y1  - 2015
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-139920
VL  - 15
IS  - 182
ER  -