scholarly journals Collaborative International Research in Clinical and Longitudinal Experience Study in NMOSD

2019 ◽  
Vol 6 (5) ◽  
pp. e583 ◽  
Author(s):  
Lawrence J. Cook ◽  
John W. Rose ◽  
Jessica S. Alvey ◽  
Anna Marie Jolley ◽  
Renee Kuhn ◽  
...  

ObjectiveTo develop a resource of systematically collected, longitudinal clinical data and biospecimens for assisting in the investigation into neuromyelitis optica spectrum disorder (NMOSD) epidemiology, pathogenesis, and treatment.MethodsTo illustrate its research-enabling purpose, epidemiologic patterns and disease phenotypes were assessed among enrolled subjects, including age at disease onset, annualized relapse rate (ARR), and time between the first and second attacks.ResultsAs of December 2017, the Collaborative International Research in Clinical and Longitudinal Experience Study (CIRCLES) had enrolled more than 1,000 participants, of whom 77.5% of the NMOSD cases and 71.7% of the controls continue in active follow-up. Consanguineous relatives of patients with NMOSD represented 43.6% of the control cohort. Of the 599 active cases with complete data, 84% were female, and 76% were anti-AQP4 seropositive. The majority were white/Caucasian (52.6%), whereas blacks/African Americans accounted for 23.5%, Hispanics/Latinos 12.4%, and Asians accounted for 9.0%. The median age at disease onset was 38.4 years, with a median ARR of 0.5. Seropositive cases were older at disease onset, more likely to be black/African American or Hispanic/Latino, and more likely to be female.ConclusionsCollectively, the CIRCLES experience to date demonstrates this study to be a useful and readily accessible resource to facilitate accelerating solutions for patients with NMOSD.

2018 ◽  
Vol 2018 ◽  
pp. 1-9 ◽  
Author(s):  
Katalin Szabó ◽  
Levente Bodoki ◽  
Melinda Nagy-Vincze ◽  
Anett Vincze ◽  
Erika Zilahi ◽  
...  

The aim of this study was to determine the clinical, serological, and genetic features of anti-Jo-1 positive antisynthetase patients followed by a Hungarian single centre to identify prognostic markers, which can predict disease phenotypes and disease progression. It was a retrospective study using clinical database of 49 anti-Jo-1 positive patients. 100% of patients exhibited myositis, 73% interstitial lung disease, 88% arthritis, 65% Raynaud’s phenomenon, 43% fever, 33% mechanic’s hand, and 12% dysphagia. We could detect significant correlation between anti-Jo-1 titer and the CK and CRP levels at disease onset and during disease course. HLA DRB1⁎03 positivity was present in 68.96% of patients, where the CK level at diagnosis was significantly lower compared to the HLA DRB1⁎03 negative patients. HLA DQA1⁎0501-DQB1⁎0201 haplotype was found in 58.62% of patients, but no significant correlation was found regarding any clinical or laboratory features. Higher CRP, ESR level, RF positivity, and the presence of fever or vasculitic skin lesions at the time of diagnosis indicated a higher steroid demand and the administration of higher number of immunosuppressants during the follow-up within anti-Jo-1 positive patients. The organ involvement of the disease was not different in HLA-DRB1⁎0301 positive or negative patients who were positive to the anti-Jo-1 antibody; however, initial CK level was lower in HLA-DRB1⁎0301 positive patients. Distinct laboratory and clinical parameters at diagnosis could be considered as prognostic markers.


2016 ◽  
Vol 23 (8) ◽  
pp. 1104-1111 ◽  
Author(s):  
Sung-Min Kim ◽  
Patrick Waters ◽  
Mark Woodhall ◽  
Yoo-Jin Kim ◽  
Jin-Ah Kim ◽  
...  

Background: Neuromyelitis optica spectrum disorder with aquaporin4-immunoglobulin G (NMOSD-AQP4) is an inflammatory disease characterised by a high female predominance. However, the effect of gender in patients with NMOSD-AQP4 has not been fully evaluated. Objective: The aim of this study was to determine the effect of gender in clinical manifestations and prognosis of patients with NMOSD-AQP4. Methods: The demographics, clinical and radiological characteristics, pattern reversal visual evoked potential (VEP) test results, and prognosis of 102 patients (18 males) with NMOSD-AQP4 were assessed. Results: Male patients had a higher age at onset (48.7 vs 41 years, p = 0.037) and less optic neuritis as the onset attack (17% vs 44%, p = 0.026), higher tendency to manifest as isolated myelitis over the follow-up period (67% vs 28%, p = 0.005), fewer optic neuritis attacks per year (0.08 vs 0.27, p < 0.001), and shorter relative P100 latency on VEP testing (97.1% vs 108.3%, p = 0.001). Moreover, male gender was significantly associated with the absence of optic neuritis attacks over the follow-up period independent of their age of onset. Conclusion: In NMOSD-AQP4 patients, gender impacts on disease onset age and site of attack. This may be an important clue in identifying NMOSD-AQP4 patients with limited manifestations as well as in predicting their clinical courses.


2019 ◽  
Vol 24 (2) ◽  
pp. 159-165
Author(s):  
Jillian M. Berkman ◽  
Jonathan Dallas ◽  
Jaims Lim ◽  
Ritwik Bhatia ◽  
Amber Gaulden ◽  
...  

OBJECTIVELittle is understood about the role that health disparities play in the treatment and management of brain tumors in children. The purpose of this study was to determine if health disparities impact the timing of initial and follow-up care of patients, as well as overall survival.METHODSThe authors conducted a retrospective study of pediatric patients (< 18 years of age) previously diagnosed with, and initially treated for, a primary CNS tumor between 2005 and 2012 at Monroe Carell Jr. Children’s Hospital at Vanderbilt. Primary outcomes included time from symptom presentation to initial neurosurgery consultation and percentage of missed follow-up visits for ancillary or core services (defined as no-show visits). Core services were defined as healthcare interactions directly involved with CNS tumor management, whereas ancillary services were appointments that might be related to overall care of the patient but not directly focused on treatment of the tumor. Statistical analysis included Pearson’s chi-square test, nonparametric univariable tests, and multivariable linear regression. Statistical significance was set a priori at p < 0.05.RESULTSThe analysis included 198 patients. The median time from symptom onset to initial presentation was 30.0 days. A mean of 7.45% of all core visits were missed. When comparing African American and Caucasian patients, there was no significant difference in age at diagnosis, timing of initial symptoms, or tumor grade. African American patients missed significantly more core visits than Caucasian patients (p = 0.007); this became even more significant when controlling for other factors in the multivariable analysis (p < 0.001). African American patients were more likely to have public insurance, while Caucasian patients were more likely to have private insurance (p = 0.025). When evaluating survival, no health disparities were identified.CONCLUSIONSNo significant health disparities were identified when evaluating the timing of presentation and survival. A racial disparity was noted when evaluating missed follow-up visits. Future work should focus on identifying reasons for differences and whether social determinants of health affect other aspects of treatment.


2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Henriette Schermacher Marstein ◽  
Kristin Godang ◽  
Berit Flatø ◽  
Ivar Sjaastad ◽  
Jens Bollerslev ◽  
...  

Abstract Background Juvenile dermatomyositis (JDM) is the most common idiopathic inflammatory myopathy in children and adolescents. Both the disease and its treatment with glucocorticoids may negatively impact bone formation. In this study we compare BMD in patients (children/adolescence and adults) with long-standing JDM with matched controls; and in patients, explore how general/disease characteristics and bone turnover markers are associated with BMD. Methods JDM patients (n = 59) were examined median 16.8y (range 6.6–27.0y) after disease onset and compared with 59 age/sex-matched controls. Dual-energy X-ray absorptiometry (DXA) was used to measure BMD of the whole body and lumbar spine (spine) in all participants, and of ultra-distal radius, forearm and total hip in participants ≥20y only. Markers of bone turnover were analysed, and associations with outcomes explored. Results Reduced BMD Z-scores (<−1SD) were found in 19 and 29% of patients and 7 and 9% of controls in whole body and spine, respectively (p-values < 0.05). BMD and BMD Z-scores for whole body and spine were lower in all patients and for < 20y compared with their respective controls. In participants ≥20y, only BMD and BMD Z-score of forearm were lower in the patients versus controls. In patients, BMD Z-scores for whole body and/or spine were found to correlate negatively with prednisolone use at follow-up (yes/no) (age < 20y), inflammatory markers (age ≥ 20y) and levels of interferon gamma-induced protein 10 (IP-10) (both age groups). In all patients, prednisolone use at follow-up (yes/no) and age ≥ 20y were independent correlates of lower BMD Z-scores for whole body and spine, respectively. Conclusion In long-term JDM, children have more impairment of BMD than adults in spine and whole-body. Associations with BMD were found for both prednisolone and inflammatory markers, and a novel association was discovered with the biomarker of JDM activity, IP-10.


Author(s):  
Seth C Kalichman ◽  
Renee El-Krab ◽  
Bruno Shkembi ◽  
Moira O Kalichman ◽  
Lisa A Eaton

Abstract The COVID-19 pandemic has had profound health and social impacts. COVID-19 also affords opportunities to study the emergence of prejudice as a factor in taking protective actions. This study investigated the association of COVID-19 concerns, prejudicial beliefs, and personal actions that involve life disruptions among people not living with and people living with HIV. 338 Black/African American men not living with HIV who reported male sex partners and 148 Black/African American men living with HIV who reported male sex partners completed a confidential survey that measured COVID-19 concern, COVID-19 prejudice, and personal action and institutionally imposed COVID-19 disruptions. Participants reported having experienced multiple social and healthcare disruptions stemming from COVID-19, including reductions in social contacts, canceling medical appointments, and inability to access medications. Mediation analyses demonstrated that COVID-19 concerns and COVID-19 prejudice were associated with personal action disruptions, indicating that these social processes are important for understanding how individuals modified their lives in response to COVID-19. It is imperative that public health efforts combat COVID-19 prejudice as these beliefs undermine investments in developing healthcare infrastructure to address COVID-19 prevention.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1383.2-1383
Author(s):  
S. G. Werner ◽  
H. E. Langer ◽  
P. Höhenrieder ◽  
R. Chatelain

Background:PCR (Polymerase Chain Reaction) is generally considered the gold standard for confirming the diagnosis in the early stages of SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) infection. However, in our rheumatology outpatient clinic we observed a significant discrepancy between clinical evidence of COVID-19 and PCR results.Objectives:Aim of this retrospective study was to analyze the significance of PCR and serologic tests in the diagnosis of COVID-19 (Corona Virus Disease 2019) in a cohort of patients with rheumatic diseases.Methods:Between March 2020 and January 2021, 35 patients with a history of established COVID-19 or typical signs and symptoms were identified on the occasion of a routine rheumatology follow-up examination in our institution. Previous diagnostic work-up in external facilities (results of PCR or antibody testing, imaging) was documented. Antibody ELISA-tests (IgG, IgA, IgM, Euroimmun) were performed in patients reporting typical signs and symptoms of COVID-19 in the past.Results:PCR diagnostics had been performed in 15/35 patients (43%), in 13/35 (39%) at the onset of the first symptoms, in 2 subjects only 2 months later. PCR was positive in 7/13 (54%) of those tested early, but negative in the two patients tested later. In 29/35 patients (83%) SARS-CoV-2-ELISA tests were performed on the occasion of the routine rheumatologic examination (interval between first symptoms and testing on average 98 days, median86, range 4-283 days). In two of the initially negative individuals the second PCR was positive. ELISA tests were positive in all patients. SARS-CoV-2 IgM antibodies were positive in only two patients (however 55 and 71 days after disease onset), n=8/29 (28%) IgG only, n=9/29 (31%) IgG and IgA, n=12/29 (41%) IgA only. In these subjects, IgG antibodies did not develop even in the further course. Antibody titers were in part very high, but in part also very low (only just above the normal value), so even low titers were diagnostic obviously. In all patients with negative PCR, ELISA was positive and retrospectively led to confirmation of the diagnosis. Only in 13/35 patients (37%) diagnosis had been made with the onset of the first symptoms or in the course of clinically manifest disease and had led to appropriate quarantine measures and contact tracing by the health authorities. In contrast, in the majority of patients (63%), the diagnosis of COVID-19 infection was only made retrospectively on the occasion of a routine rheumatologic follow-up. However, 5 of these 22 patients (23%) had quarantined themselves during the symptomatic phase. Titer histories were available from 12 patients. The titer became negative in 7 patients, after a mean of 188 days (median 202, min 51, max 296 days), and remained positive in 5 individuals (mean 190 days, median 191, min 122, max 260 days). The change of the titer was independent of disease severity or antirheumatic therapy.Conclusion:The results suggest that the importance of PCR in the diagnosis of COVID-19 may be overestimated. Therefore, antibody testing for SARS-CoV-2 should be performed in cases of clinical suspicion and negative PCR. In antibody diagnostics, special features were observed compared to other viruses, in particular, in some patients only low antibody titers or the absence of seroconversion with lack of development of IgG antibodies. Normalization of antibody titers in some patients supports the recommendation to vaccinate even after expired COVID-19 disease.Disclosure of Interests:None declared


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