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OBJECTIVES: ANA-associated RMDs (ANA-RMDs-SLE, pSS, scleroderma, inflammatory myositis, mixed connective tissue disease (MCTD) and undifferentiated connective tissue disease) are a disease spectrum with overlapping clinical and immunological features. Musculoskeletal inflammation is common and impactful across ANA-RMDs. We evaluated musculoskeletal inflammation (ANA-arthritis) prevalence in a multi-disease ANA-RMD study, assessed its clinical impact across ANA-RMD diagnoses, proposed new basket groupings of patients and evaluated immunological profiles in legacy and new basket contexts. METHODS: An observational study enrolled ANA-RMD patients. Demographic variables, comorbidities, therapies, disease activity instruments (BILAG, SLEDAI, ESSDAI, physician-VAS), patient-reported outcomes (SF36, FACIT-Fatigue, EQ5D, ICECAP-A, WPAI, patient-VAS) and biomarker profile (6 gene expression scores, flow cytometry, autoantibody profile) were analysed. Reclustering utilized Gaussian Mixture Modelling (GMM). Clinical and immune features of new and legacy clusters were compared. RESULTS: Inflammatory MSK symptoms were prevalent across ANA-RMDs, in 213/294 patients. In ANA-arthritis patients, most variables did not differ between diagnoses, excluding EQ5D-5L index and mobility domains (lower in MCTD/pSS, both p< 0.05). Fibromyalgia and osteoarthritis prevalence were similar across diagnoses. Therapy use differed significantly, biologic use being greatest in SLE (p< 0.05).GMM yielded two multi-disease clusters; High-MSK disease activity (n = 89) and Low-MSK disease activity (n = 124). High-MSK disease activity contained all patients with active joint swelling and had significantly higher prednisolone usage, PGA and Sm/RNP/SmRNP/Chromatin positivity, Tetherin-MFI and Interferon Score-A activity; with numerically lower fibromyalgia and osteoarthritis prevalence. CONCLUSION: We define ANA-Arthritis, a more clinically and immunologically homogeneous population than existing RMDs for trials, and a more prevalent population for therapies in the clinic.
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BACKGROUND: Patients with idiopathic inflammatory myopathies (IIM) have an increased risk of cancer, but their cancer-related disease burden remains unclear. OBJECTIVES: To explore how cancer might impact the mortality of patients with IIM and examine the associated prognostic factors for cancer and death. METHODS: We identified patients with IIM diagnosed between 1998 and 2020 and ascertained their cancer and death records via linkage to the Swedish healthcare and population registers. Transition hazards from IIM diagnosis to cancer and death were estimated in multistate models using flexible parametric methods. We then predicted the probability of having cancer or death, and the duration of staying alive at a given time from IIM and cancer diagnoses from a crude model. We also explored prognostic factors for progression to cancer and death in a multivariable model. RESULTS: Of 1826 IIM patients, 310 (17%) were diagnosed with cancer before and 306 (17%) after IIM diagnosis. In patients diagnosed with cancer after IIM, the 5-year probability of death from cancer and from other causes was 31% and 18%, respectively, compared to 7% and 15% in patients without cancer after IIM. We reported several factors associated with risk of progression to cancer and death. Specifically, patients with first cancer after IIM who were older at IIM diagnosis, had cancer history, dermatomyositis and a cancer diagnosis within 1 year following IIM faced a greater cancer-specific mortality. CONCLUSION: We observed a substantial increase in mortality from cancer, compared to before, rather than other causes after a cancer diagnosis following IIM, suggesting an unmet medical need for effective cancer management in IIM patients. This finding, along with the identified prognostic factors, provides useful insight into future research directions for improving cancer management in IIM patients.
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Soft tissue aneurysmal bone cysts (STABCs) are rare neoplasms histopathologically identical to aneurysmal bone cysts. These benign lesions are characterized by thin, peripheral ossification and no skeletal continuity. STABC may be difficult to distinguish from myositis ossificans (MO) and malignant entities from imaging and fine needle aspiration, due to rarity and overlapping features. We present a case of a STABC occurring in the paraspinal cervical muscles. The imaging, histopathology, molecular analysis, and treatment are discussed. Four other published cases of STABC of the head and neck are reviewed.
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Coxsackie B virus is primarily associated with fever, pharyngitis, and gastrointestinal symptoms, while myocarditis is rarely reported. We present a rare case of a 47-year-old male with a history of hypertension and obesity, who developed Coxsackie B virus-induced myositis, myocarditis, and polyarthralgia. The patient presented with worsening back pain radiating to his chest, migratory arthralgia, exertional dyspnea, and bilateral shoulder pain with arm weakness. Initial investigations revealed elevated creatinine kinase (CK) levels and troponin I, alongside a high white blood cell (WBC) count and C-reactive protein (CRP) levels. Given the patient's symptoms and uptrending troponin without EKG changes, there was a high concern for non-ST-elevation myocardial infarction (NSTEMI), leading to initial treatment with aspirin and IV heparin. However, further questioning revealed a recent sore throat and contact with an ill family member, prompting investigations for an infectious etiology. A viral panel confirmed Coxsackie B virus infection. The patient made a full recovery with supportive care. This case highlights the importance of considering viral causes, particularly the Coxsackie B virus, in patients presenting with muscle pain, cardiac symptoms, and joint pain. Comprehensive viral testing is crucial for early identification and appropriate management to prevent long-term complications. Understanding the mechanisms of Coxsackie B virus infection is essential for developing effective treatment strategies addressing both the viral infection and the inflammatory response.
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Background: While the use of immunotherapy has revolutionised the treatment of various cancers, it is often associated with a myriad of immune-related adverse effects. Case Presentation: In this article, we report a rare case of durvalumab-induced triple-M syndrome in a 69-year-old woman with stage III lung adenocarcinoma. She was admitted with profound generalised muscle weakness, myalgia, and exertional breathlessness, about a week into her second cycle of durvalumab, an immune checkpoint inhibitor. She had clinicopathological features of myositis, myasthenia and myocarditis with acute onset symptomatic tri-fascicular block on electrocardiogram, requiring urgent cardiology intervention. Durvalumab was discontinued and she was treated with a combination of high-dose steroids and intravenous immunoglobulin after which she had clinical and biochemical improvement, albeit with residual muscle weakness. Conclusion: Myocarditis-myositis-myasthenia complex is a rare side effect of immunotherapy which has been reported in other immune checkpoint inhibitors, but less so with durvalumab. We report this clinical case to raise awareness of this rare and potentially life-threatening adverse effect of this agent. LEARNING POINTS: Triple-M syndrome is a rare immune-related adverse effect, which has been noted in other immune checkpoint inhibitors, but less so with durvalumab specifically.Immunotherapy-induced myositis, myocarditis and myasthenia can occur in isolation or, rarely, in association as a syndrome.This case demonstrates the potentially life-threatening nature of this entity, the need for early recognition, and multi-specialist teamwork to ensure good outcome.
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Branchial cleft cysts are considered one of the most common cystic lesions in neck and are commonly seen in pediatric age group and young adulthood with most of the cases presenting within second and third decade. Here we intend to discuss a case of a 43 year old male who presented with a very short history of a painful lateral neck mass and was clinico-radiologically suggested as either myositis and abscess of sternocleidomastoid muscle or necrotic/cystic lymphadenopathy. An ultrasound guided needle aspiration cytology did not show any microorganism thus an excisional biopsy of the mass was done suspecting it to be lymph nodal mass. However the histopatholgical examination confirmed it to be an inflamed branchial cyst. Thus we would like to highlight the importance of keeping branchial cleft cysts as a possible differential while managing lateral neck masses of any duration in adults as well as in children.
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OBJECTIVES: To analyze the clinical features of idiopathic inflammatory myopathies (IIMs) patients with anti-PM/Scl antibodies. METHODS: In this retrospective cohort study, we compared the clinical manifestations between patients who were solely positive for anti-PM/Scl antibodies (isolated anti-PM/Scl group) and those with a coexistence of anti-PM/Scl antibodies and myositis-specific antibodies (MSAs) (double-positive group). RESULTS: Sixty-five IIMs patients positive for anti-PM/Scl antibodies were included, among whom 51 (78.5 %) were females, with a mean age of 49.1 years. Thirty-four (52.3 %) patients coexisted with MSAs. Compared to the double-positive group, the isolated anti-PM/Scl group demonstrated a higher proportion of women (90.3 % vs 67.6 %, p = 0.026) and a higher incidence of sclerodactyly (16.1 % vs 0, p = 0.021). Although there were no differences in the incidence of muscular weakness, dysphagia, or creatine kinase levels, thigh magnetic resonance imaging (MRI) revealed less muscle edema, atrophy, and fatty replacement in the isolated anti-PM/Scl group (p < 0.05). Interstitial lung disease (ILD) occurred in 80 % of patients, more frequently in the double-positive group (90.6 % vs 67.9 %, p = 0.028). According to HRCT, non-specific interstitial pneumonia (NSIP) was the most common pattern among anti-PM/Scl antibodies positive IIMs patients. The double-positive group exhibited higher ferritin levels, and a lower peripheral lymphocyte count (p < 0.05). The mortality rate in the double-positive group was higher than that in the isolated anti-PM/Scl group (20.6 % vs 0, p = 0.034). CONCLUSION: Among IIMs patients who tested positive for anti-PM/Scl antibodies, ILD emerged as the predominant clinical feature, particularly when combined with MSA. Notably, patients with isolated anti-PM/Scl antibodies exhibited a favorable prognosis following immunotherapy.
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OBJECTIVE: To study the trajectories of changes in damage over time and explore associations with autoantibody defined subgroups using a large international cohort of patients with idiopathic inflammatory myopathies (IIM). METHODS: Data from the MYONET registry, including patients who were tested for autoantibodies and had at least one assessment of damage using the Myositis Damage Index (MDI), were analyzed. Patients were sub-grouped according to their autoantibody profiles (myositis-specific, myositis-associated, or seronegative). The index date was defined as the time point for the first registered MDI assessment. The longitudinal trajectories of damage with autoantibody status as the main predictor were analyzed using linear mixed models. RESULTS: A total of 757 adult patients were included in this study. Each year of disease duration since diagnosis had an estimated MDI score increase of 0.16 units for the seronegative group (reference). Compared with the seronegative group as reference, patients with dermatomyositis-specific autoantibodies developed less damage per year of follow-up since diagnosis (average 0.08 less score, P = 0.04), whereas patients with anti-PM/Scl autoantibodies developed more damage per year of follow-up since diagnosis (average 0.28 higher score, P = 0.03) independent of sex and age at diagnosis. The seronegative subgroup and the immune-mediated necrotizing myopathy autoantibody subgroup had the strongest correlation between severity of muscle damage and HAQ-DI scores at five years of follow-up, rho=0.84, P < 0.001 and rho=0.72, P < 0.001, respectively. CONCLUSION: Our study is the first to describe patterns and trajectories of change in damage over time in relation to autoantibody defined subgroups in a large international multicenter cohort of patients with IIM. Patients with anti-PM/Scl scored a greater extent of damage, whereas patients with dermatomyositis-specific antibodies had less damage than seronegative patients. Severity in muscle damage had moderate to strong correlation with functional disability among the IMNM and seronegative subgroups with lower correlations for the other subgroups. These findings suggest that autoantibodies may be useful predictors of long-term damage.
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This is a case report describing an unusual presentation of acute painful diplopia that led to the diagnosis of VEXAS syndrome. VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an adult-onset monogenic auto-inflammatory disease due to somatic UBA1 gene mutation in haematopoietic progenitor cells. Our patient was a 67-year-old diabetic male who presented with painful eye movements associated with diplopia, left periorbital pain and swelling. Imaging revealed an inflammatory process involving multiple intra- and extra-orbital structures. The patient improved initially with a short course of intravenous steroids. However, two months later he re-presented with right facial swelling. Bone marrow biopsy demonstrated UBA1 gene mutation supporting the diagnosis of VEXAS syndrome. This case highlights a unique ocular presentation of VEXAS.
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BACKGROUND: Validated patient-reported outcome measures to assess disease impact in patients with adult idiopathic inflammatory myopathies (IIMs) are needed. The objective of this study was to assess the construct validity of PROMIS Pain Interference, Fatigue, and Physical Function measures in comparison with core disease activity measures. METHODS: Adults with IIM, excluding inclusion body myositis, from OMERACT Myositis Working Group (MWG) clinic sites completed PROMIS Short Form v1.0-Pain Interference 6a, PROMIS Short Form v1.0-Fatigue 7a, and PROMIS Short Form v2.0-Physical Function 8b measures. Core disease activity measures including patient and physician global disease activity assessments, manual muscle testing, serum creatine kinase activity, and Health Assessment Questionnaire Disability Index (HAQ-DI) were simultaneously assessed. To evaluate construct validity, a priori hypotheses for the expected correlations between PROMIS measures, age, and core disease measures were determined by >70 % agreement among MWG members and were compared against observed Pearson's correlations. Internal consistency of items and floor or ceiling effects for the PROMIS measures were also assessed. Subgroup analysis according to IIM subtype (dermatomyositis vs. non-dermatomyositis IIM) was performed. RESULTS: 135 adults with IIM from 5 countries across North America, Europe, Asia, and Australia were included. For construct validity, a priori hypotheses were confirmed for 5 of 6 (83 %) PROMIS Pain Interference, 4 of 5 (80 %) PROMIS Fatigue, and 3 of 4 (75 %) PROMIS Physical Function correlations. Internal consistency was high for each PROMIS measure (Cronbach's alpha >0.9). Ceiling effects were observed only for PROMIS Pain Interference, with low/no pain in 29 % of patients. Subgroup analysis between dermatomyositis (n = 65) and non-dermatomyositis (n = 70) subtypes demonstrated similar correlations between PROMIS measures and disease activity measures. CONCLUSIONS: PROMIS Short Form v1.0-Pain Interference 6a, PROMIS Short Form v1.0-Fatigue 7a, and PROMIS Short Form v2.0-Physical Function 8b measures demonstrate strong construct validity when compared to core disease activity measures in IIM, with consistent results across IIM subtypes. These findings support the use of these selected PROMIS measures to assess core domains of interest for measuring life impact in IIMs.
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All orbital tissues, including extra-ocular muscles, can be affected by the varicella-zoster virus (VZV). However, only a minority of all individuals with herpes zoster infections present with herpes zoster ophthalmicus. The present study reports the case of a middle-aged male patient presenting with an acute intractable right-sided headache. His neurological examination yielded normal results. The analysis of cerebrospinal fluid by biochemistry and cultural analysis yielded normal results; however, the analysis of this fluid using polymerase chain reaction yielded a positive result for VZV. Thus, treatment with acyclovir was commenced. Brain magnetic resonance imaging revealed a bilateral intraorbital intraconal enhancement consistent with myositis. His symptoms evolved into a shock-like pain over the scalp associated with painful ocular movements. On the 2nd day of admission, he developed new vesicular lesions found on the right-side cranial nerve V1 dermatome. By the 6th day of admission, he was asymptomatic, and his physical examination revealed the resolution of the dermatologic manifestations of the VZV. The patient was stable for outpatient follow-up with ophthalmology and was discharged on an oral valacyclovir course for 7 days. To the authors' knowledge, there are four cases reported in the literature of herpes zoster ophthalmicus with orbital myositis prior to the appearance of vesicular lesions. Thus, it is suggested that VZV serology be investigated before a final diagnosis of idiopathic orbital myositis is made.
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Objectives: Anti-signal recognition particle (SRP) antibodies, markers of immune-mediated necrotising myopathy, are reportedly related to cardiac involvement; however, whether they are pathogenic to the myocardium remains unclear. We aimed, therefore, to explore the pathogenicity of anti-SRP antibodies against the myocardium through in vivo and in vitro studies. Methods: Total immunoglobulin G (IgG), purified from patients with positive anti-SRP antibodies, was passively transferred into C57BL/6 mice. Cardiac function was evaluated via echocardiography and the ventricular pressure-volume loop; cardiac histological changes were analysed using haematoxylin-eosin staining, picrosirius red staining, immunofluorescence and immunohistochemistry. Additionally, reactive oxygen species (ROS) formation was evaluated by dihydroethidium (DHE) staining; mitochondrial morphology and function were evaluated using transmission electron microscopy and seahorse mitochondrial respiration assay, respectively. The myositis cohort at our centre was subsequently reviewed in terms of cardiac assessments. Results: After the passive transfer of total IgG from patients with positive anti-SRP antibodies, C57BL/6 mice developed significant left ventricular diastolic dysfunction (LVDD). Transcriptomic analysis and corresponding experiments revealed increased oxidative stress and mitochondrial damage in the hearts of the experimental mice. Cardiomyocytes exposed to anti-SRP-specific IgG, however, recovered normal mitochondrial metabolism after treatment with N-acetylcysteine, an ROS scavenger. Moreover, patients positive for anti-SRP antibodies manifested worse diastolic but equivalent systolic function compared to their counterparts after propensity score matching. Conclusion: Anti-SRP antibodies may play a pathogenic role in the development of LVDD by promoting ROS production and subsequent myocardial mitochondrial impairment. The inhibition of oxidative stress was effective in reversing anti-SRP antibody-induced LVDD.
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BACKGROUND: People with a rare disease commonly experience long delays from the onset of symptoms to diagnosis. Rare diseases are challenging to diagnose because they are clinically heterogeneous, and many present with non-specific symptoms common to many diseases. We aimed to explore the experiences of people with myositis, primary immunodeficiency (PID), and sarcoidosis from symptom onset to diagnosis to identify factors that might impact receipt of a timely diagnosis. METHODS: This was a qualitative study using semi-structured interviews. Our approach was informed by Interpretive Phenomenological Analysis (IPA). We applied the lens of uncertainty management theory to tease out how patients experience, assess, manage and cope with puzzling and complex health-related issues while seeking a diagnosis in the cases of rare diseases. RESULTS: We conducted interviews with 26 people with a rare disease. Ten participants had been diagnosed with a form of myositis, 8 with a primary immunodeficiency, and 8 with sarcoidosis. Time to diagnosis ranged from 6 months to 12 years (myositis), immediate to over 20 years (PID), and 6 months to 15 years (sarcoidosis). We identified four themes that described the experiences of participants with a rare disease as they sought a diagnosis for their condition: (1) normalising and/or misattributing symptoms; (2) particularising by clinicians; (3) asserting patients' self-knowledge; and (4) working together through the diagnosable moment. CONCLUSIONS: Managing medical uncertainty in the time before diagnosis of a rare disease can be complicated by patients discounting their own symptoms and/or clinicians discounting the scale and impact of those symptoms. Persistence on the part of both clinician and patient is necessary to reach a diagnosis of a rare disease. Strategies such as recognising pattern failure and accommodating self-labelling are key to diagnosis.
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Investigación Cualitativa , Enfermedades Raras , Humanos , Enfermedades Raras/diagnóstico , Femenino , Masculino , Adulto , Incertidumbre , Persona de Mediana Edad , Adulto Joven , Miositis/diagnóstico , Anciano , Sarcoidosis/diagnóstico , Adolescente , Diagnóstico TardíoRESUMEN
BACKGROUND: COVID-19 can induce a systemic inflammatory response with variable clinical manifestations. Similar to various viruses, COVID-19 has been implicated in the pathogenesis of autoimmune diseases. This article highlights the potential for infections including the SARS-CoV-2 virus to induce exacerbations of pre-existing autoimmune diseases or even potentially unmask de novo autoimmune diseases in particular anti-synthetase syndrome (ASSD) in predisposed individuals. Although there are other case reports of ASSD following SARS-CoV-2 infection, here we present the first reported case of a gentleman with a newly diagnosed anti-OJ positive anti-synthetase syndrome following SARS-CoV-2 infection. CASE PRESENTATION: Described is a case of a 70-year-old man presenting to the emergency department with worsening dyspnea in the context of a recent COVID-19 infection. CT-chest revealed changes suggestive of fibrotic lung disease, consistent with usual interstitial pneumonitis (UIP) pattern. Despite recovery from his COVID-19 illness, the patient subsequently developed proximal myopathy with cervical flexion weakness on further assessment with persistently elevated creatinine kinase (CK). Myositis autoantibodies found a strongly positive anti-OJ autoantibody with MRI-STIR and muscle biopsy performed to further confirm the diagnosis. The patient received pulse methylprednisolone 1 g for 3 days with a long oral prednisolone wean and in view of multiple end-organ manifestations, loading immunoglobulin at 2 g/kg administered over two days was given. In addition, he was then commenced and escalated to a full dose of azathioprine given a normal purine metabolism where he remains in clinical remission to this date. At least 267 cases of rheumatic diseases has been associated with SARS-CoV-2 infection as well as COVID-19 vaccination. A literature search on PubMed was made to determine the amount of case reports describing myositis associated with SARS-CoV-2 infection. We found 3 case reports that fit into our inclusion criteria. Further literature searches on diagnostic approach and treatment of ASSD were done. CONCLUSION: Although SARS-CoV-2 infection itself can cause a directly mediated viral myositis, this case report highlights the possibility of developing virus-triggered inflammatory myositis through multiple aforementioned proposed mechanisms. Therefore, further studies are required to explore the relationship and pathophysiology of SARS-CoV-2 infection and the incidence of inflammatory myopathies.
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BACKGROUND: Inclusion body myositis (IBM) is a progressive myopathy occurring in patients over 45 years of age, with heterogeneous and variable clinical features. This study aimed to determine the influence of autoantibodies, gender, and age of onset on the clinical features of IBM. METHODS: Medical records and muscle histology findings of 570 participants with suspected IBM were reviewed. Various characteristics of patients who met the 2011 ENMC IBM diagnostic criteria were compared based on the presence of anti-cytosolic 5'-nucleotidase 1 A (cN1A) autoantibodies, gender, age of onset, and disease duration. RESULTS: Of the 353 patients who met the criteria, 41.6% were female. The mean age at onset was 64.6 ± 9.3 years, and the mean duration from onset to diagnosis was 5.7 ± 4.7 years. 196 of the 353 patients (55.5%) were positive for anti-cN1A autoantibodies and 157 were negative. Logistic regression showed that patients with anti-cN1A autoantibodies had a higher frequency of finger flexion weakness. Multiple regression showed that patients with later age of onset had shorter disease duration, lower BMI, and lower serum CK levels. Male patients had a higher frequency of onset with finger weakness and female patients had a lower BMI. CONCLUSION: Autoantibodies, gender, age of onset, and disease duration may influence the clinical presentation of IBM, highlighting the need for a precision medicine approach that considers these factors along with the underlying mechanisms of the disease.
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5'-Nucleotidasa , Edad de Inicio , Autoanticuerpos , Miositis por Cuerpos de Inclusión , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , 5'-Nucleotidasa/inmunología , Autoanticuerpos/sangre , Miositis por Cuerpos de Inclusión/inmunología , Miositis por Cuerpos de Inclusión/sangre , Miositis por Cuerpos de Inclusión/diagnóstico , Estudios Retrospectivos , Caracteres SexualesRESUMEN
INTRODUCTION: Recruitment for idiopathic inflammatory myopathies (IIM) research is a challenge due to the rarity of the disease and the scarcity of specialized myositis centers. Online recruitment may be a feasible alternative to reach rare disease patients. We evaluated various online recruitment methods in a large longitudinal IIM cohort. METHODS: The "Myositis Patient Centered Tele-Research" (My Pacer) is a prospective 6-month observational study of IIM, recruited online and through traditional clinic visits. We utilized diverse recruitment methods, such as physician referrals, social media, websites, direct emails, and partnerships with patient-support organizations. Participants self-enrolled and completed pre-screening, e-consenting, and release of medical information via the study-specific app or website. We compared the effectiveness of various recruitment and enrollment methods and the characteristics of the population recruited. RESULTS: A total of 841 participants completed the pre-screening; 408 completed e-consent and registration. From those, 353 (86.5%) were remotely recruited. Email (201; 49.26%) and social media (77; 18.87%) were important recruitment tools. Patient-support organizations were responsible for disseminating the study to 312 (75.46%) participants. The study app was used by 232 (65.72%) individuals for enrollment, with app users being slightly younger than website users (p = 0.001). Participants were mostly female 317 (77.76%), mean age of 54.84 years, White 328 (80.42%), Black 49 (12%), Asian 13 (3.26%), and non-Hispanic 378 (92.65%). Our study reached all U.S. regions and 45 (90%) U.S. states. CONCLUSIONS: Social media and partnerships with patient-support organizations lead to a high rate of recruitment, with a wide reach, and a reasonably diverse population.
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Muscle sonography is used in rheumatology, neurology, geriatrics, sports medicine and orthopedics. Muscular atrophy with fatty and connective tissue degeneration can be visualized and must be interpreted in conjunction with the sonographic findings of the supplying nerves. Sonography is becoming increasingly more important for the early diagnosis of sarcopenia in rheumatology, geriatrics and osteology. Even if its significance has not yet been conclusively clarified, many publications confirm the high reliability of the method. Sonography can ideally be used in addition to magnetic resonance imaging (MRI) in the diagnostics of myositis as it can speed up the diagnosis, muscle groups that were not imaged by MRI can also be assessed sonographically and all muscle groups can be examined during the course of the procedure. Sonography also helps to make a quick and uncomplicated diagnosis of many sports injuries in addition to MRI and is therefore the basis for a targeted therapeutic approach.
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The authors describe a case of bilateral diffuse paraneoplastic orbital myositis induced by a stage IA left testicular pure seminoma. The patient presented with findings typical of thyroid-associated orbitopathy (TAO) and was thought to have TAO until discovery of the malignancy. Treatment included an urgent orchiectomy, as well as 7 weeks of therapeutic plasma exchange. This is the fifth reported case of seminoma-associated orbitopathy, and the second to occur while cancer was in the occult phase. Although seminoma-associated orbitopathy is exceedingly rare, it can masquerade as TAO and should be considered in the differential diagnosis of any young male with atypical TAO findings.