TY - JOUR A1 - Hedrich, Christian M. A1 - Hofmann, Sigrun R. A1 - Pablik, Jessica A1 - Morbach, Henner A1 - Girschick, Hermann J. T1 - Autoinflammatory bone disorders with special focus on chronic recurrent multifocal osteomyelitis (CRMO) JF - Pediatric Rheumatology N2 - Sterile bone inflammation is the hallmark of autoinflammatory bone disorders, including chronic nonbacterial osteomyelitis (CNO) with its most severe form chronic recurrent multifocal osteomyelitis (CRMO). Autoinflammatory osteopathies are the result of a dysregulated innate immune system, resulting in immune cell infiltration of the bone and subsequent osteoclast differentiation and activation. Interestingly, autoinflammatory bone disorders are associated with inflammation of the skin and/or the intestine. In several monogenic autoinflammatory bone disorders mutations in disease-causing genes have been reported. However, regardless of recent developments, the molecular pathogenesis of CNO/CRMO remains unclear. Here, we discuss the clinical presentation and molecular pathophysiology of human autoinflammatory osteopathies and animal models with special focus on CNO/CRMO. Treatment options in monogenic autoinflammatory bone disorders and CRMO will be illustrated. KW - bisphosphonate treatment KW - IL-10 expression KW - TNF-α KW - IL-10 KW - inflammation KW - bone KW - CRMO KW - CNO KW - DIRA KW - PAPA KW - Majeed-Syndrome KW - disease KW - deficiency KW - pediatric patients KW - treatment KW - TLR4 KW - PAPA syndrome KW - hypertrophic osteodystrophy KW - chronic nonbacterial osteomyelitis KW - congenital dyserythropoietic anemia Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-125694 SN - 1546-0096 VL - 11 IS - 47 ER - TY - JOUR A1 - Hedrich, Christian M. A1 - Hofmann, Sigrun R. A1 - Pablik, Jessica A1 - Morbach, Henner A1 - Girschick, Hermann J. T1 - Autoinflammatory bone disorders with special focus on chronic recurrent multifocal osteomyelitis (CRMO) JF - Pediatric Rheumatology N2 - Sterile bone inflammation is the hallmark of autoinflammatory bone disorders, including chronic nonbacterial osteomyelitis (CNO) with its most severe form chronic recurrent multifocal osteomyelitis (CRMO). Autoinflammatory osteopathies are the result of a dysregulated innate immune system, resulting in immune cell infiltration of the bone and subsequent osteoclast differentiation and activation. Interestingly, autoinflammatory bone disorders are associated with inflammation of the skin and/or the intestine. In several monogenic autoinflammatory bone disorders mutations in disease-causing genes have been reported. However, regardless of recent developments, the molecular pathogenesis of CNO/CRMO remains unclear. Here, we discuss the clinical presentation and molecular pathophysiology of human autoinflammatory osteopathies and animal models with special focus on CNO/CRMO. Treatment options in monogenic autoinflammatory bone disorders and CRMO will be illustrated. KW - TNF-α KW - PAPA KW - DIRA KW - Majeed KW - CNO KW - CRMO KW - bone KW - inflammation KW - IL-10 KW - treatment KW - TLR4 Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-132456 VL - 11 IS - 47 ER - TY - JOUR A1 - Nentwich, Julia A1 - Ruf, Katharina A1 - Girschick, Hermann A1 - Holl-Wieden, Annette A1 - Morbach, Henner A1 - Hebestreit, Helge A1 - Hofmann, Christine T1 - Physical activity and health-related quality of life in chronic non-bacterial osteomyelitis JF - Pediatric Rheumatology N2 - Background Chronic non-bacterial osteomyelitis (CNO) is an autoinflammatory disorder of the skeletal system of yet unknown etiology. Patients present with local bone pain and inflammation and - to our experience - often suffer from functional impairment with significant disabilities of daily life. The objective of this study was to assess physical activity, fitness and health-related quality of life (HRQOL) in adolescents with established diagnosis of CNO versus healthy controls (HC). Methods 15 patients with CNO and 15 age and gender matched HC aged 13–18 years, completed questionnaires, performed an incremental exercise test with gas exchange measures up to voluntary fatigue and wore an accelerometer over 7 days at home to assess physical activity behavior. Results At the time of assessment, 5 CNO patients were in clinical, one in radiological and 5 in clinical and radiological remission. 7 did not receive any therapy at the time of assessment. The results of the exercise test and of the accelerometry did not show any significant difference between CNO and HC. However, reported sports participation was lower in patients with CNO and PedsQL3.0 and 4.0 showed significant lower values in most of the scores indicating reduced HRQOL. Conclusion Although most CNO patients showed a favorable course of disease without any relevant differences in objective measurements of physical activity and fitness versus HC at the time of assessment, questionnaires revealed perceived limitations. Further studies are needed to measure HRQOL and to validate questionnaires in patients with CNO against objective measures including more participants with a higher level of disease activity. KW - chronic non-bacterial osteomyelitis KW - CRMO KW - HRQOL KW - physical activity Y1 - 2019 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-323710 VL - 17 ER -