Healthcare utilization and unmet needs of patients with antisynthetase syndrome: An international patient survey.

Antisynthease syndrome (ASSD) is a rare, complex and understudied autoimmune disease. Internet-based studies can overcome barriers of traditional on-site research and are therefore very appealing for rare diseases. The aim of this study was to investigate patient-reported symptoms, diagnostic delay, symptoms, medical care, health status, working status, disease knowledge and willingness to participate in research of ASSD patients by conducting an international web-based survey. The multilingual questionnaire was created by an international group of rheumatologists and patients and distributed online. 236 participants from 22 countries completed the survey. 184/236 (78.0%) were female, mean age (SD) was 49.6 years (11.3) and most common antisynthetase antibody was Jo-1 (169/236, 71.6%). 79/236 (33.5%) reported to work full-time. Median diagnostic delay was one year. The most common symptom at disease onset was fatigue 159/236 (67.4%), followed by myalgia 130/236 (55.1%). The complete triad of myositis, arthritis and lung involvement verified by a clinician was present in 42/236 (17.8%) at disease onset and in 88/236 (37.3%) during the disease course. 36/236 (15.3%) reported to have been diagnosed with fibromyalgia and 40/236 (16.3%) with depression. The most reported immunosuppressive treatments were oral corticosteroids 179/236 (75.9%), followed by rituximab 85/236 (36.0%). 73/236 (30.9%) had received physiotherapy treatment. 71/236 (30.1%) reported to know useful online information sources related to ASSD. 223/236 (94.5%) were willing to share health data for research purposes once a year. Our results reiterate that internet-based research is invaluable for cooperating with patients to foster knowledge in rare diseases.

Peripartal pain perception and pain therapy: introduction and validation of a questionnaire as a quality instrument.

BACKGROUND: Labor pain is difficult to measure. The aim of this proof-of-concept study is to implement and test a questionnaire assessing pain sensation during and after vaginal deliveries. Its key aspect is a highly standardized survey of patient-reported outcome (PRO) by staff not involved in routine care. METHODS: Between January and November 2015 339 women were assessed 24-48 h after spontaneous or operative-vaginal delivery of a singleton. German language skills were a prerequisite to participate. The test-retest reliability was calculated in 38 women 24-36 and 48-72 h postpartum between July and October 2017. Primiparae after spontaneous delivery and multiparae with no history of operative deliveries were compared in a subgroup analysis. RESULTS: Maximum labor pain and post-partum pain were reported a median of 9 [8-10] and 4 [3-6]. Higher ratings were associated with younger age, higher gestational ages, infant's biometrics, and the duration of laboring. Only regional analgesia tended to reduce pain perception (NRS 8 vs. 9). Higher-degree injuries were associated with less pain postpartum. The questionnaire proved to be reliable in most aspects (Cronbach's α > 0.6 for 19/21 questions) and showed an acceptable content and criterion validity (Cohen correlation > ± 0.3, interrelation between items). CONCLUSION: Labor is a very painful experience, irrespective of previous obstetric history. Ratings indicate inadequateness of treatment except for patients receiving preventive postoperative pain management. Systematic postpartum pain assessment, hence, is still a pending issue. Adjustments will be made concerning language skills and specific questions on effectiveness of analgesia otherwise good reliability and validity of the questionnaire were proven.

[Pericarditis is inflammation of the pericardium, which rheumatologists should know]. / Perikarditis im Rahmen rheumatologischer Erkrankungen ­ Was der Rheumatologe wissen sollte.

Pericarditis is the term for inflammatory involvement of the pericardium, which can be associated with pericardial effusion and myocardial involvement (perimyocarditis). Pericarditis can be present in the context of systemic inflammatory rheumatic diseases but can also constitute a distinct disease entity. Idiopathic recurrent pericarditis (IRP) describes relapsing conditions of pericarditis with an unknown cause, which show essential common features with autoinflammatory diseases. This article gives an overview of the frequency of pericarditis in systemic rheumatic diseases. Moreover, the clinical manifestations and pathophysiology of IRP are discussed. Finally, the therapeutic algorithms for acute and idiopathic pericarditis are explained.

[Myofasciitis under nivolumab treatment]. / Myofasziitis unter Nivolumab-Therapie.

We report the case of a 73-year-old female patient with malignant melanoma who developed rapidly progressive dermatosclerosis of the arms and legs as well as myalgia and flexion contractures during treatment with the immune checkpoint inhibitor nivolumab. The diagnosis of a myofasciitis was confirmed by imaging and biopsy. Following consultation with the treating dermato-oncologists nivolumab treatment was paused and treatment with methotrexate and prednisolone was initiated. Immune checkpoint inhibitors can induce a variety of immune-mediated side effects and can also imitate symptoms of rheumatological diseases. The occurrence of myofasciitis under immune checkpoint inhibition has been reported in the literature only in a few cases. Further oncological and rheumatological treatment management should be carried out in close interdisciplinary coordination.

Assessment of excess medical costs for persons with type 2 diabetes according to age groups: an analysis of German health insurance claims data.

AIM: This cross-sectional study used a large nationwide claims data set to assess the excess medical costs of people with type 2 diabetes according to age group in 2015. METHODS: Data from 291 709 people with diabetes and 291 709 age- and sex-matched controls were analysed. Total costs (expressed as 2015 euros) of outpatient and inpatient services, medication, rehabilitation, and the provision of aids and appliances were examined. Overall and age-stratified excess costs of people with diabetes were estimated using gamma regression with a log-link. RESULTS: Overall, the estimated total direct costs of a person with type 2 diabetes are approximately double those of a person without diabetes: €4727 vs. €2196, respectively. Absolute excess costs were approximately the same in all age groups (around €2500), however, relative excess costs of persons with diabetes were much higher in younger (~ 334% for < 50 years) than in older age groups (~ 156% for ≥ 80 years). Regional costs, both absolute and excess, partly differed from the national level. CONCLUSIONS: This study complements and updates previous studies on the excess medical costs of people with diabetes in Germany. The results indicate the importance of preventing the development of type 2 diabetes, especially in younger age groups. Longitudinal and regional studies examining changes in prevalence and the development of excess costs in groups with different types of diabetes, and according to age, would be of interest to validate our findings and better understand the avoidable burden of having diabetes.

[Auricular chondritis as first symptom of ANCA-associated vasculitis]. / Aurikuläre Chondritis als Erstsymptom einer ANCA-assoziierten Vaskulitis.

Auricular chondritis frequently occurs in relapsing polychondritis. In addition to the primary form of the disease up to 30% of cases of chondritis can be secondary, e.g. due to autoimmune diseases. We describe the case of a 62-year-old male patient with auricular chondritis as the first symptom of granulomatosis with polyangiitis. Anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis should always be considered in the differential diagnostics of relapsing polychondritis and antibody testing should be performed accordingly.

[Recurrence of septic arthritis of the wrist by Pseudomonas aeruginosa due to colonization of a central venous indwelling catheter]. / Rezidiv einer septischen Arthritis des Handgelenks durch Pseudomonas aeruginosa bei Besiedelung eines zentralvenösen Verweilkatheters.

A diabetic patient, wearer of a port and with a history of gonarthritis due to Pseudomonas aeruginosa presented with subacute arthritis of a wrist. After a protracted interval P. aeruginosa was detected by microbial culture from the explanted port and the affected joint. This case shows that in patients with unclear arthritis of the wrist, a history of septic arthritis with P. aeruginosa and risk factors for hematogenous spread, a recurrent infection should be excluded. The treatment consisted of explantation of the port, débridement with synovectomy of the joint and adequate antibiotic treatment.

IgG4-related orbitopathy as an important differential diagnosis of advanced silent sinus syndrome.

BACKGROUND: Immunoglobulin (Ig)G4-related disease is classified as an immune-mediated disease. The etiology of this condition has not been explained to date. Manifestations of the disease are diverse, and simultaneous involvement of multiple organs is not unusual. CASE REPORT: We report the case of a patient referred to us after multiple unsuccessful paranasal sinus operations who presented with enophthalmos and a resultant migratory keratitis with a suspected diagnosis of silent sinus syndrome. Preservation of the orbit was no longer feasible. After five years without a definitive diagnosis, we ascertained that this was a case of IgG4-related disease. DISCUSSION: IgG4-related disease represents an important element in the differential diagnosis of chronic advanced diseases of the orbit and paranasal sinuses. The diagnosis should be considered in the case of unclear disease presentations. Typical histological findings include a storiform pattern of fibrosis, vasculopathy, and tissue infiltration by IgG4 plasma cells.

[IgG4-Related Orbitopathy as an Important Differential Diagnosis of Advanced Silent Sinus Syndrome. German version]. / IgG4-assoziierte Orbitopathie als wichtige Differenzialdiagnose eines fortgeschrittenen Silent-Sinus-Syndroms.

BACKGROUND: Immunoglobulin (Ig)G4-related disease is classified as an immune-mediated disease. The etiology of this condition has not been explained to date. Manifestations of the disease are diverse, and simultaneous involvement of multiple organs is not unusual. CASE REPORT: We report the case of a patient referred to us after multiple unsuccessful paranasal sinus operations who presented with enophthalmos and a resultant migratory keratitis with a suspected diagnosis of silent sinus syndrome. Preservation of the orbit was no longer feasible. After five years without a definitive diagnosis, we ascertained that this was a case of IgG4-related disease. DISCUSSION: IgG4-related disease represents an important element in the differential diagnosis of chronic advanced diseases of the orbit and paranasal sinuses. The diagnosis should be considered in the case of unclear disease presentations. Typical histological findings include a storiform pattern of fibrosis, vasculopathy, and tissue infiltration by IgG4 plasma cells.

Nonequilibrium Mass Transport in the 1D Fermi-Hubbard Model.

We experimentally and numerically investigate the sudden expansion of fermions in a homogeneous one-dimensional optical lattice. For initial states with an appreciable amount of doublons, we observe a dynamical phase separation between rapidly expanding singlons and slow doublons remaining in the trap center, realizing the key aspect of fermionic quantum distillation in the strongly interacting limit. For initial states without doublons, we find a reduced interaction dependence of the asymptotic expansion speed compared to bosons, which is explained by the interaction energy produced in the quench.

[Response of dermatomyositis with lung involvement to Janus kinase inhibitor treatment]. / Ansprechen einer Dermatomyositis mit Lungenbeteiligung auf eine Januskinase-Inhibitor-Therapie.

We report on a 32-year-old male patient presenting with anti-MDA-5 and anti-Ro52 antibody positive hypomyopathic dermatomyositis (CADM) with clinically leading interstitial pulmonary involvement. Under several immunosuppressive treatment regimens including high-dose steroids, cyclophosphamide, rituximab, immunoglobulins, plasmapheresis, ciclosporin and mycophenolate mofetil, pulmonary involvement was refractory to progressive. Based on the detection of a clear-cut interferon signature by flow cytometric determination of SIGLEC-1 as an interferon-dependent marker, treatment with the Janus kinase inhibitor tofacitinib was initiated. This resulted in a response to treatment with a significant increase in physical performance, an ameliorated skin condition and computed tomographic (CT) morphologically improved interstitial lung disease with overall good tolerability.

Dynamical Quasicondensation of Hard-Core Bosons at Finite Momenta.

Long-range order in quantum many-body systems is usually associated with equilibrium situations. Here, we experimentally investigate the quasicondensation of strongly interacting bosons at finite momenta in a far-from-equilibrium case. We prepare an inhomogeneous initial state consisting of one-dimensional Mott insulators in the center of otherwise empty one-dimensional chains in an optical lattice with a lattice constant d. After suddenly quenching the trapping potential to zero, we observe the onset of coherence in spontaneously forming quasicondensates in the lattice. Remarkably, the emerging phase order differs from the ground-state order and is characterized by peaks at finite momenta ±(π/2)(ℏ/d) in the momentum distribution function.

Distinct clinical and radiographic characteristics of moyamoya disease amongst European Caucasians.

BACKGROUND AND PURPOSE: Occlusive cerebrovascular moyamoya disease (MMD) is rare and has been characterized mainly in Asian countries, so far. In recent years, MMD has been increasingly reported worldwide, raising the question whether its clinical presentation would vary amongst different ethnic backgrounds. Here, a homogeneous series of 153 patients with MMD are reported and the specific clinical features of this rare disease amongst European Caucasians are highlighted. METHODS: A total of 153 European Caucasians with MMD who were treated in our institution between 1997 and 2014 were retrospectively identified. Demographic data, clinical symptoms, angiographic characteristics and functional hemodynamic studies were analyzed. RESULTS: Moyamoya disease presented with a female predominance of 2,9:1.,78% presented with a typical MMD, 17% with a unilateral MMD and 5% with an atypical MMD. 16% of our patients belonged to the pediatric population. Overall, 81% and 8.5% of our cohort presented initially with ischaemic and hemorrhagic manifestation, respectively. The rate of hemorrhagic manifestation of MMD amongst the pediatric group was slightly higher (12%). Angiographic analysis revealed steno-occlusive involvement of the posterior circulation in 34% with a higher involvement in pediatric patients (64%) compared to adults (28%). CONCLUSIONS: The characterization of our homogeneous European Caucasian cohort reveals several significant differences compared to Asian cohorts. In contrast, MMD presents similarly amongst European and North American cohorts, suggesting that non-Asian MMD is characterized by distinct clinical features.

[Can Peers Achieve Access to Socially Burdened Families? Evaluation Results of the Programme 'Community Mothers in Berlin-Kreuzberg']. / Können Peers Zugänge zu sozial belasteten Familien schaffen? Ergebnisse der Evaluation des Projekts "Stadtteilmütter in Berlin-Kreuzberg".

This study evaluated a setting-based programme whose goal was to promote the healthy upbringing of children in a disadvantaged district through the empowerment of mothers. Women from the neighbourhood were trained as community mothers (CM) to impart their knowledge in home visitations to other mothers. 67 CMs were trained. They gained access to 118 families via home visits and to 191 families in single contacts. Information and support resulted in positive changes in all families available for interviews (n=44). The families also gained access to the professional help system.

[Adult onset Still's disease with small vessel vasculitis]. / Adulter Morbus Still mit Kleingefäßvaskulitis.

This article presents a particularly severe case of adult onset Still's disease aggravated by small vessel vasculitis. A satisfactory therapy was concluded 1.5 years after onset of the disease. The small vessel vasculitis was difficult to treat: methotrexate (MTX), cyclophosphamide and rituximab were not sufficiently effective. Tocilizumab in combination with intravenous immunoglobulin (IVIG) induced remission and maintenance therapy was carried out with tocilizumab.

[Toric intraocular lenses: a valuable method for correcting corneal astigmatism]. / Torische Intraokularlinsen: Eine nützliche Methode in der Korrektur des kornealen Astigmatismus.

BACKGROUND: The aim of this stud was to assess clinical outcomes after implantation of a hydrophobic toric intraocular lens (IOL) in patients undergoing cataract surgery. PATIENTS AND METHODS: 22 eyes (16 patients) with at least 0.8 diopter (D) of corneal astigmatism having routine cataract surgery were included. After marking the final axis of the IOL, phacoemulsification, implantation and alignment of a toric IOL was performed. Uncorrected distance visual acuity (UDVA), best corrected distance visual acuity (BDVA), manifest refraction, and keratometry were measured 5 to 19 months postoperatively. Individual patient satisfaction was also recorded. The cylinder axis of the toric IOL was determined at a slitlamp examination. RESULTS: The mean UDVA postoperatively was 0.3 logMAR±0.23 (SD) and was 0.3 logMAR or better in 63.6% of eyes. The mean refractive cylinder decreased significantly postoperatively, ranging from -3.3±1.5 D to -1.3±0.7 D. The mean absolute IOL misalignment was 7.5 degrees (range 0 to 21°). The good UDVA resulted in high levels of patient satisfaction. CONCLUSIONS: Implantation of a toric IOL during cataract surgery was an effective and safe method to manage corneal astigmatism in this series of patients.

Sonographic discrimination between benign and malignant adnexal masses in premenopause.

PURPOSE: The aim of this study was to assess the diagnostic value of sonographic pattern recognition by experts, a standardized morphological scoring system, the risk malignancy index (RMI) and CA 125 assay for the preoperative assessment of ovarian lesions in premenopausal patients. MATERIAL AND METHODS: Diagnostic work-up of 1320 patients who underwent surgical exploration due to an adnexal mass at a tertiary referral center were included. We assessed the discriminative value of pattern recognition, a sonographic morphological scoring system, RMI and CA 125 by calculating sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and Cohen's kappa for each diagnostic approach while using histopathology as the reference standard. RESULTS: Pattern recognition showed the highest discriminative power with an observed kappa of 0.53. Sensitivity and specificity yielded 0.76 and 0.97 respectively. Combining pattern recognition with CA 125 serum measurement in the context of a triage system diminished the diagnostic value (kappa: 0.24; sensitivity: 0.29 specificity: 0.97). For the RMI we observed a sensitivity of 0.54 and a specificity of 0.96 and estimated kappa value yielded 0.37. Omitting the CA 125 assay and using a morphological sonographic assessment system increased the kappa value to 0.45 with sensitivity and specificity observed at 0.61 and 0.97 respectively. CONCLUSION: Expert pattern recognition was found to be the method with the highest discriminative power in assessing an adnexal mass during premenopause. Additional assessment of serum CA 125 diminished the diagnostic accuracy. Standardized morphological sonographic assessment resulted in a moderate diagnostic accuracy. Supplementing the morphological sonographic assessment with CA 125 by using the RMI algorithm did not improve the diagnostic value.

Expansion dynamics of interacting bosons in homogeneous lattices in one and two dimensions.

We experimentally and numerically investigate the expansion of initially localized ultracold bosons in homogeneous one- and two-dimensional optical lattices. We find that both dimensionality and interaction strength crucially influence these nonequilibrium dynamics. While the atoms expand ballistically in all integrable limits, deviations from these limits dramatically suppress the expansion and lead to the appearance of almost bimodal cloud shapes, indicating diffusive dynamics in the center surrounded by ballistic wings. For strongly interacting bosons, we observe a dimensional crossover of the dynamics from ballistic in the one-dimensional hard-core case to diffusive in two dimensions, as well as a similar crossover when higher occupancies are introduced into the system.

Determination of radon exhalation from construction materials using VOC emission test chambers.

The inhalation of (222) Rn (radon) decay products is one of the most important reasons for lung cancer after smoking. Stony building materials are an important source of indoor radon. This article describes the determination of the exhalation rate of stony construction materials by the use of commercially available measuring devices in combination with VOC emission test chambers. Five materials - two types of clay brick, clinker brick, light-weight concrete brick, and honeycomb brick - generally used for wall constructions were used for the experiments. Their contribution to real room concentrations was estimated by applying room model parameters given in ISO 16000-9, RP 112, and AgBB. This knowledge can be relevant, if for instance indoor radon concentration is limited by law. The test set-up used here is well suited for application in test laboratories dealing with VOC emission testing.