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Feldtkeller E.,Deutsche Vereinigung Morbus Bechterew | Lind-Albrecht G.,Rheumatologie Immunologie Osteologie RHIO | Rudwaleit M.,Endokrinologikum | Rudwaleit M.,Charite - Medical University of Berlin
Rheumatology International | Year: 2013

Advice concerning behaviour and adaptations of living and working environment is considered an unmet need by patients with ankylosing spondylitis (AS). The aim of this study was to develop a core set of recommendations to be given to patients by their rheumatologists. A systematic literature research of scientific and patient-oriented literature revealed 70 raw recommendations. These recommendations were evaluated and ranked at a meeting of the Ankylosing Spondylitis International Federation (ASIF, 26 participants including 19 patients with AS, 5 rheumatologists and 2 physiotherapists from 13 countries) in November 2011. Thereafter, the 59 remaining recommendations were extensively discussed, supplemented, reworded, condensed and voted on during a meeting of local branch leaders of the AS patient organisation in Germany (Deutsche Vereinigung Morbus Bechterew, DVMB) with 80 participants (95 % of whom with AS), 2 rheumatologists and 1 occupational therapist in March 2012. The core set of final recommendations comprises (1) a general statement regarding living with AS which was considered highly important by patients and (2) the following domains: sitting position, walking, sleeping, at work, exercises, sports and recreational activities, diet and lifestyle, sexuality and pregnancy, fall prevention, car driving and advantages of membership in an AS-specific patient organisation. Most recommendations are relevant already in early disease, others concern advanced AS (e.g. fall prevention and car driving). The selected recommendations received high agreements (80-100 %). A first core set of recommendations for the behaviour and environmental adaptations of patients with AS was established under participation of many patients. © 2013 Springer-Verlag Berlin Heidelberg. Source


Feldtkeller E.,Ankylosing Spondylitis International Federation | Rudwaleit M.,Endokrinologikum | Zeidler H.,Rheumatologikum
Rheumatology (United Kingdom) | Year: 2013

Objectives. Several sets of criteria for the diagnosis of axial SpA (including non-radiographic axial spondyloarthritis) have been proposed in the literature in which scores were attributed to relevant findings and the diagnosis requests a minimal sum of these scores. To quantitatively estimate the probability of axial SpA, multiplying the likelihood ratios of all relevant findings was proposed by Rudwaleit et al. in 2004. The objective of our proposal is to combine the advantages of both, i.e. to estimate the probability by summing up scores instead of multiplying likelihood ratios.Methods. An easy way to estimate the probability of axial spondyloarthritis is to use the logarithms of the likelihood ratios as scores attributed to relevant findings and to use the sum of these scores for the probability estimation.Results. A list of whole-numbered scores for relevant findings is presented, and also threshold sum values necessary for a definite and for a probable diagnosis of axial SpA as well as a threshold below which the diagnosis of axial spondyloarthritis can be excluded. In a diagram, the probability of axial spondyloarthritis is given for sum values between these thresholds.Conclusion. By the method proposed, the advantages of both, the easy summing up of scores and the quantitative calculation of the diagnosis probability, are combined. Our method also makes it easier to estimate which additional tests are necessary to come to a definite diagnosis. © The Author 2013. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. Source


Koetz K.R.,Charite - Medical University of Berlin | Van Rossum E.F.C.,Erasmus University Rotterdam | Ventz M.,Charite - Medical University of Berlin | Diederich S.,Endokrinologikum | Quinkler M.,Charite - Medical University of Berlin
Clinical Endocrinology | Year: 2013

Context Patients with primary adrenal insufficiency (PAI) and patients with congenital adrenal hyperplasia (CAH) receive weight-adapted standard glucocorticoid replacement therapy. Clinically, some patients appear more sensitive to therapeutic administration of glucocorticoids than others. Glucocorticoid sensitivity is at least partially genetically determined by polymorphisms of the glucocorticoid receptor (GR) and might influence bone mineral density (BMD). Objectives To determine if bone turnover markers and BMD are associated with the GR gene polymorphism BclI in patients with PAI and CAH. Design and Patients A prospective, cross-sectional study including 74 PAI and 38 CAH patients. BMD was evaluated by DXA. Serum levels of bone turnover markers, minerals, vitamins and hormones, and urinary crosslinks were measured. Results Patients carrying the homozygous BclI polymorphism (GG) had significantly higher serum β-CrossLaps (0·37 ± 0·34 μg/l; P < 0·05) and urinary collagen crosslinks (NTX, 68·1 ± 32·4 nmol/g; P < 0·005) despite receiving the lowest average daily hydrocortisone dose of 9·9 ± 3·7 mg/m2 (P < 0·05). The GG genotype occurred significantly more frequently in patients with increased NTX (OR=6·7, 95% CI = 1·78-25·38) than in patients with normal NTX. However, BMD was not significantly different between different allelic variants. No significant differences in associations of the genotypes with outcomes (or in clinical characteristics) were found between the sexes. Conclusions Although the sample sizes were relatively small and the results should be interpreted with caution, this study suggests that the homozygous (GG) genotype may be associated with higher bone resorption in adult PAI and CAH patients. GG-carriers needed a lower hydrocortisone dose on average supporting the concept that this GR variant is associated with increased cortisol sensitivity. © 2012 John Wiley & Sons Ltd. Source


Koetz K.R.,Charite - Medical University of Berlin | Ventz M.,Charite - Medical University of Berlin | Diederich S.,Endokrinologikum | Quinkler M.,Charite - Medical University of Berlin
Journal of Clinical Endocrinology and Metabolism | Year: 2012

Context: Patients with primary adrenal insufficiency (PAI) and patients with congenital adrenal hyperplasia (CAH) receive glucocorticoid replacement therapy, which might cause osteoporosis. Objectives: Questions addressed by this study were: 1) Is bone mineral density (BMD) reduced in PAI and CAH on lower glucocorticoid doses than previously reported? 2) Is BMD in PAI influenced by the type of glucocorticoid used? and 3) Does DHEA treatment affect BMD in PAI women? Design and Patients: We conducted a prospective, cross-sectional study including 81 PAI patients and 41 CAH patients. Main Outcome Measures: BMD was measured by dual-energy x-ray absorptiometry. Serum levels of bone turnover markers, minerals, vitamins, hormones, and urinary crosslinks were measured. Results: PAI and CAH patients received average daily hydrocortisone doses of 12.0 ± 2.7 mg/m 2 (range, 4.9 -19.1) and 15.5 ± 7.8 mg/m 2 (range, 5.7-33.7), respectively. BMD varied within the normal reference range (-2 to +2) in both cohorts. However, lower Z-scores for femoral neck and Ward's region were found in CAH compared to PAI women, but not in men. Prednisolone treatment showed significant lower osteocalcin levels and lower Z-scores for lumbar spine and femoral neck compared to PAI patients on hydrocortisone. PAIwomentreated with DHEA had significantly lower urinary collagen crosslinks and bone alkaline phosphatase, and significantly higher Z-scores in lumbar spine and femoral Ward's region compared to non-DHEA-treated women. Conclusions: Adult PAI and CAH patients on low glucocorticoid doses showed normal BMD within the normal reference range. The use of longer acting prednisolone resulted in significantly lower BMD in PAI. In addition, DHEA treatment may have a beneficial effect on bone in Addison's women. Copyright © 2012 by The Endocrine Society. Source


Hulur I.,University of Chicago | Hermanns P.,Johannes Gutenberg University Mainz | Nestoris C.,Endokrinologikum | Heger S.,Childrens Hospital Auf Der Bult | And 4 more authors.
Journal of Clinical Endocrinology and Metabolism | Year: 2011

Context: Dual oxidases (DUOX1 and DUOX2) play a crucial role in the generation of hydrogen peroxide required in the oxidation of iodide and the synthesis of thyroid hormone. Heterodimerization with specific maturation factors (DUOXA1 and DUOXA2) is essential for the maturation and function of the DUOX enzyme complexes. Biallelic loss-of-function mutations of DUOX2 result in congenital hypothyroidism (CH), whereas a single reported case of homozygous DUOXA2 mutation (Y246X) has been associated with mild CH. Objective: We now report an infant with transient CH due to a complex genetic alteration of the DUOX/DUOXA system. Results: Our patient was born to euthyroid nonconsanguineous parents and presented with an elevated TSH and enlarged thyroid gland at neonatal screening. Genetic analysis revealed a missense mutation (C189R) on the maternal DUOXA2 allele. The mutant DUOXA2 protein showed complete loss-of-function in reconstituting DUOX2 in vitro. The apparent C189R homozygosity of the proband in the absence of the same mutation in the father led to detailed gene mapping, revealing an approximately 43-kb pair deletion encompassing DUOX2, DUOXA1, and DUOXA2. Thus, in addition to being deficient in DUOXA2, the proband lacks one allele of DUOX2 and DUOXA1 but has two functioning DUOX1 alleles. Conclusion: The transient CH in the presence of only one functional maturation factor allele indicates a high level of functional redundancy in the DUOX/DUOXA system. Copyright © 2011 by The Endocrine Society. Source

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