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BACKGROUND: Patient-reported outcomes (PROs) play a crucial role in assessing rheumatic diseases, offering insights into disease evaluation and treatment efficacy. This study focuses on PRO assessment in large vessel vasculitides, including Takayasu Arteritis and Giant Cell Arteritis (GCA). METHODS: We retrospectively analyzed routine data from patients treated at our rheumatology clinic over a 10-year span. Patient and physician-rated global disease activity scale (G-DAS) scores, measured on a numeric rating scale (0-10 points), were collected at each visit. Clinical variables like age, sex, body mass index (BMI), disease duration, lab values, pain perception, and questionnaire responses were recorded. Linear regression and generalized additive linear regression (GAM analysis) examined associations between PROs and these factors. RESULTS: The study included 138 patients, primarily diagnosed with GCA (94.4%). Mean follow-up was 2.5 years (0-7.7). Patient and physician G-DAS exhibited a moderate correlation (Pearson R 0.19, CI 0.14-0.24, p < 0.001). Higher patient G-DAS correlated with younger age (CI -3.4 - -1.5, p < 0.001), increased pain (CI 3.5-4, p < 0.001), functional limitations (HAQ, CI 0.5-0.6, p < 0.001), reduced physical (CI 2.3-2.7, p ≤ 0.001) and psychological well-being (CI 2.1-2.5, p < 0.001), and higher BMI (CI 1.3-2.4, p < 0.001). Physician G-DAS correlated with Birmingham Vasculitis Activity Score (V3.0; R 0.42, p 0.046) and were significantly linked to serum CRP elevations (ß = 0.04, CI 0.0-0.08, p 0.028). CONCLUSIONS: These findings underscore the need to integrate PRO measures into vasculitis disease management strategies, enhancing the understanding of disease activity from the patient's perspective.

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BACKGROUND: Research suggests that Alopecia areata (AA) and Major Depressive Disorder (MDD) show substantial comorbidity. To date, no study has investigated the hypothesis that this is attributable to shared genetic aetiology. OBJECTIVES: To investigate AA-MDD comorbidity on the epidemiological and molecular genetic levels. METHODS: First, epidemiological analyses were performed using data from a cohort of adult German health insurance beneficiaries (n = 1.855 million) to determine the population-based prevalence of AA-MDD comorbidity. Second, analyses were performed to determine the prevalence of MDD in a clinical AA case-control sample with data on psychiatric phenotypes, stratifying for demographic factors to identify possible contributing factors to AA-MDD comorbidity. Third, the genetic overlap between AA and MDD was investigated using a polygenic risk score (PRS) approach and linkage disequilibrium score (LDSC) regression. For PRS, summary statistics from a large MDD GWAS meta-analysis (PGC-MD2) were used as the training sample, while a Central European AA cohort, including the above-mentioned AA patients, and an independent replication US-AA cohort were used as target samples. LDSC was performed using summary statistics of PGC-MD2 and the largest AA meta-analysis to date. RESULTS: High levels of AA-MDD comorbidity were reported in the population-based (MDD in 24% of AA patients), and clinical samples (MDD in 44% of AA patients). MDD-PRS explained a modest proportion of variance in AA case-control status (R2  = 1%). This signal was limited to the major histocompatibility complex (MHC) region on chromosome 6. LDSC regression (excluding MHC) revealed no significant genetic correlation between AA and MDD. CONCLUSIONS: As in previous research, AA patients showed an increased prevalence of MDD. The present analyses suggest that genetic overlap may be confined to the MHC region, which is implicated in immune function. More detailed investigation is required to refine understanding of how the MHC is involved in the development of AA and MDD comorbidity.

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To develop a protocol for assessing spinal range of motion using an inertial sensor device. The baseline error of an inertial sensor was assessed using a bicycle wheel. Nineteen healthy subjects (12 females and 7 males, average age 18.2 ± 0.6 years) were then prospectively enrolled in a study to assess the reliability of an inertial sensor-based method for assessing spinal motion. Three raters each took three measurements of subjects' flexion/extension, right and left bending, and right and left rotation. Afterwards, one trial from each set of measurements was excluded. Correlations and the ICC (3,1) were used to assess intra-rater reliability, and ICC (3,2) was used to assess inter-rater reliability of the protocol. The baseline error of the sensor was 1.45°. Correlation and ICC (3,1) values for the protocol all exceeded 0.888, indicating high intra-rater reliability. ICC (3,2) values for the protocol exceed 0.87, indicating high inter-rater reliability. Our study presents both a paradigm for assessing the baseline error of inertial sensors and a protocol for assessing motion of the spine using an inertial sensing device.

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Current research in the field of systemic lupus erythematosus (SLE) and pregnancy focuses on predictors of adverse pregnancy outcomes, the safety and efficacy of hydroxychloroquine (HCQ) in pregnancy and the importance of preconception counselling. In particular, the prospective predictors of pregnancy outcome: biomarkers in antiphospholipid antibody syndrome and SLE (PROMISSE) study adds to the understanding of risk factors for adverse outcomes. There is increasing evidence of the numerous benefits associated with continuing HCQ treatment in pregnancy and for the use of low-dose acetylsalicylic acid in the prevention of preeclampsia. The European League Against Rheumatism (EULAR) has published evidence-based recommendations for the treatment of women with SLE and/or antiphospholipid syndrome before, during and after pregnancy. Rheumatologists caring for women with SLE should be familiar with the current state of knowledge in order to help optimize the management and thus the outcome of pregnancy in their patients.

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OBJECTIVE: Our aim was to study the quality of medical care in patients with systemic lupus erythematosus (SLE) to understand gaps and to analyze the association with outcome of the disease. METHODS: Information on demographics and medical care was assessed by self-reported questionnaires among SLE patients (LuLa cohort, 2011, n = 580). In total, 21 aspects of medical care were analyzed. Univariate analysis selected 10 predictor variables for further analysis: (1) urine examination and (2) blood test in the previous year, (3) taking antimalarials, (4) taking vitamin D and calcium if the dosage of prednisolone was greater than 7.5 mg/day, counseling regarding (5) lipid metabolism, (6) vaccination, and (7) blood pressure, and treatment of the comorbidities (8) hypertension, (9) osteoporosis and (10) lipid metabolism disorder. The association of these 10 items with the outcome of the disease, assessed in 2015, was analyzed by linear regression analysis, adjusted for age, disease duration and sex. RESULTS: On average six of the 10 items were met (±1.7). Receiving more clinical care in 2013 was predictive for low disease activity (SLAQ, p = 0.024, ß = -0.104, corr. R2 = 0.048), low progress in disease-related damage (Delta Brief Index of Lupus Questionnaire, p = 0.048, ß = -0.132, corr. R2 = 0.036) and high health-related quality of life (SF-12 physical, p = 0.035, ß = 0.100, corr. R2 = 0.091) in 2015. CONCLUSION: Our study illustrates a link between the quality of care and the SLE outcome parameters disease activity, disease-related damage and quality of life. Consistent considerations of these care parameters, which are recommended in several management guidelines, could therefore be a good approach to improve the outcome of patients with SLE.

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Inflammatory rheumatic diseases preferentially affect women of childbearing age. Immunological alterations can have positive or negative effects on the maternal disease. Most of these women can have a successful pregnancy with careful medical and obstetric care. Nevertheless, complications are more frequent than in healthy women. Pregnancies should therefore be planned during inactive phases of the disease and patients should be educated in advance about possible maternal and child risks and about treatment options compatible with pregnancy. In pregnancy, individualized and interdisciplinary care can promote a stable course of the disease and reduce the risks for mother and child. Especially with respect to a compatible treatment, detailed information for the patients is necessary for a shared decision making.

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BACKGROUND: Improvement of health-related quality of life (HRQoL) is a prioritized treatment target in systemic lupus erythematosus (SLE). A retrospective chart review of patients with repeated HRQoL measurements from the outpatient department was conducted in order to better understand which factors drive HRQoL in established SLE. Of particular interest was the association between HRQoL and disease activity. METHODS: The medical outcomes study short form 36 (SF-36), systemic lupus activity measure (SLAM) and routine clinical data of 169 patients (83% female, mean age 40.3 ± 13 years, disease duration 9.4 ± 7 years) over an average of 7.1 ± 4.2 years were available for analysis by linear mixed modelling. Factors associated with the physical component summary (PCS) and mental component summary (MCS) of the SF-36 were assessed. The proportion of HRQoL which could be explained by the variables was estimated by marginal R2 (mR2) and conditional R2 (cR2). RESULTS: At baseline, SLE patients showed a reduced HRQoL in all subscales of the SF-36 including PCS and MCS with the exception of vitality. A higher PCS over time was significantly associated with concurrent parameters, such as intake of antimalarial drugs, no glucocorticoid use, less fatigue, lower disease activity as well as to the baseline parameters of younger age and higher PCS (mR2 54.7%, cR2 59.9%). A higher MCS was associated with concurrent use of glucocorticoids and a higher baseline MCS (mR2 21.7%, cR2 25.1%). CONCLUSION: The use of antimalarial drugs and no glucocorticoid intake as well as low current disease activity are modifiable factors associated with a better physical HRQoL. The mental component of HRQoL was poorly represented by conventional parameters and not associated with parameters of disease activity in the present study cohort.

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Genetic diseases with hyper- and hypotrichosis are very heterogeneous, both clinically and genetically. This is especially true for ectodermal dysplasias but also for hereditary syndromes in which, beyond abnormal hair growth, other structures and organs are affected. In this review, we discuss distinct diseases with excessive and reduced hair growth, focusing on the clinical hallmarks and underlying genetic defects.

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As long as we cannot cure diseases such as systemic lupus erythematosus (SLE), it must be our goal that people with SLE can live a largely normal life. It should not be dominated by the disease. The main goal is secondary prevention, i. e. the prevention of harm. In 2020 we want to make a better contribution to this aim. For this article on SLE, being fit for 2020 therefore means applying the basic concepts of care for patients with SLE on a regular basis. The focus is on the new concepts resulting from the new classification criteria, the optimized basic care (BASIC), the complex communication with those affected, the new EULAR recommendations for monitoring SLE, the integration of biologics into the treatment regimen, the targeted therapy (T-2-T) and thus the criteria low disease activity and remission, the question of new care structures for rare and complex systemic diseases and finally the outlook on future treatment concepts, the basis of which we will all create in the coming years. If we consistently apply the current options, we will be able to further improve the life situation and quality of life of those affected even without newly approved drugs.

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Premature gonadal failure is a common problem in patients with systemic lupus erythematosus (SLE) when gonadotoxic therapies are applied. The preservation of gonadal function and fertility is of great importance to many predominantly young SLE patients. Some fertility preservation methods are well established and well known, whereas others are considered more cautiously. In particular, the cryopreservation of ovarian tissue is a rarely chosen fertility preservation option for SLE patients of (pre)fertile age. We report the first case of successful conception and pregnancy of an SLE patient after autotransplantation of cryopreserved ovarian tissue. A 26-year-old SLE patient decided to undergo cryopreservation of ovarian tissue when receiving cyclophosphamide for lupus nephritis. Tissue removal, preparation, cryopreservation and quality control was performed, as described, according to current state-of-the-art techniques. After 6 years of being in remission using azathioprine and belimumab, her ovarian tissue was autotransplanted because of premature ovarian failure, diagnosed at the age of 32, and a wish to conceive. She conceived spontaneously 8 months later, having a diamniotic-dichoriotic twin pregnancy. The children were born prematurely due to preterm premature rupture of membranes in the 32nd week of gestation; mother and children are doing very well 8 months later. We regard the procedure to be an option worth consideration for our predominantly young SLE patients.

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STUDY DESIGN: Biomechanical test. OBJECTIVE: To summarize the preclinical tests performed to assess the durability of a novel fusionless dynamic device for the treatment of adolescent idiopathic scoliosis (AIS). SUMMARY OF BACKGROUND DATA: The minimal invasive deformity correction (MID-C) system is a distractible posterior dynamic deformity correction device designed to reduce scoliosis for AIS patients, to maintain curve correction, and to preserve spinal motion. To overcome the challenges of wear and fatigue of this procedure, the system has two unique features: polyaxial joints at the rod-screw interface and a ceramic coating of the moving parts. METHODS: Five biomechanical tests were performed: Static compression to failure, fatigue loading per ASTM F 1717 with 5.5-mm screws for 10 million cycles (MC) at 5 Hz, wear assessment, wear test of the polyaxial joint under 100 N load for 10 MC, and wear particle implantation in rabbits. RESULTS: The system failed through buckling of the rod with loads over 3000 N (400% of human body weight). Dynamically, the system maintained 700 N for 10 MC with 5.5 mm screws. The maximum total steady-state wear rate was 0.074 mg/MC (0.03 per polyaxial joint and 0.014 mg/MC for the ratchet mechanism). Histologic evaluation of the particle injection sites indicated no difference in the local tissue response between the control and test articles. At 3 and 6 months postinjection, there were neither adverse local effects nor systemic effects observed. CONCLUSIONS: The unique design features of the MID-C system, based on polyaxial joints and ceramic coating, resulted in favorable static, fatigue, and wear resistance properties. Wear properties were superior to those published for artificial spinal discs. Long-term outcomes from clinical use will be required to correlate these bench tests to the in vivo reality of clinical use. LEVEL OF EVIDENCE: Level V.

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Young patients and adolescents with chronic rheumatic diseases have the same desires, fears and needs in terms of sexuality and pregnancy as their healthy peers. In most cases adolescents are already sexually active before transition from pediatric to adult rheumatological care takes place. Pregnancies in women with rheumatic diseases are associated with increased maternal and fetal risks, especially when they occur unplanned in the course of active disease or under teratogenic drugs. Safe contraception is therefore crucial in preventing unwanted pregnancies. The choice of contraception should anticipate the safety of the method of contraception as well as age-dependent practicability. A strategy of "double protection" through the use of condoms for contraception and prevention of sexually transmitted diseases combined with another safe contraception method should be recommended. Women with rheumatic diseases are more susceptible to acquire persisting human papilloma virus (HPV) infections and the subsequent progression to cervical cancer. In women with rheumatic diseases HPV vaccination induces high seroconversion rates, is safe and does not seem to induce disease activity. The care of adolescent women with rheumatic diseases before, during and after medical transition needs to encompass an open, early and continuous counselling regarding these topics in order to retain the individual health-related quality of life and to adapt this care to age-specific needs.

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Objective Adherence to medication has a major impact on treatment control and success especially in chronic diseases but often remains unrecognized. Besides clinical, socioeconomic, disease-related and treatment-related parameters, general and personal health beliefs, as well as perception of health, can affect adherence. Our aim was to investigate the adherence to lupus-specific medications in German lupus patients and to assess influencing factors including detrimental or beneficial effects of health perceptions and beliefs. Methods The Lupus Erythematosus (LE) Long-Term Study (LuLa-study) is a nationwide longitudinal study among German Caucasian patients with systemic lupus erythematosus who have been assessed annually using a self-reported questionnaire since 2001. In 2013, we included questions concerning medical adherence (Morisky Medication Adherence Scale; MMAS-4), beliefs about medication prescribed (BMQ), illness perception and about the patients' health locus of control (HLC). We present a cross-sectional analysis to assess predictors of adherence using a multivariable stepwise logistic regression. Results Five hundred and seventy-nine patients participated, 81 of whom did not take any lupus-specific medication and 40 of whom did not complete the MMAS-4 and were therefore omitted. Only 62.7% reported high adherence. Unintentional behaviour for low medical adherence exceeded the intentional behaviour by far. The use of azathioprine (OR: 1.85; 95% CI: 1.02-3.34), prednisone <7.5 mg (OR: 1.56; 95% CI: 0.97-2.49), a higher age (OR: 1.06; 95% CI: 1.03-1.08) and higher external HLC (OR: 1.15; 95% CI: 1.01-1.30) proved conducive for high adherence in our multivariable model. On the contrary, the general perception of medication being harmful or addictive (OR: 0.89; 95% CI: 0.82-0.97) was detrimental. Conclusion A low belief that one's own health is determined by healthcare providers (external HLC) and the belief of the harmfulness of medication were independent predictors of low adherence besides age and the choice of the medical agent. The recognition of these potential obstacles in physician-patient relationships is essential to ameliorate adherence. Provision of sufficient information and education might help to reach the best possible outcome.

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