{"title":"Myophosphorylase Deficiency.","authors":"Justine K Weksel, Stephen Soloway","doi":"10.1097/RHU.0000000000002164","DOIUrl":"10.1097/RHU.0000000000002164","url":null,"abstract":"","PeriodicalId":14745,"journal":{"name":"JCR: Journal of Clinical Rheumatology","volume":" ","pages":"e3"},"PeriodicalIF":2.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142620724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sanika Rege, Lauren E Parlett, Amanda Neikirk, Alicia Iizuka, Yiling Yang, Cecilia Huang, Stephen Crystal, Amy Davidow, Kevin Haynes, Tobias Gerhard, Carlos D Rose, Brian L Strom, Daniel B Horton
{"title":"New Diagnoses of Juvenile Idiopathic Arthritis Early in the COVID-19 Pandemic: Analysis of a Large United States Commercial Insurance Database.","authors":"Sanika Rege, Lauren E Parlett, Amanda Neikirk, Alicia Iizuka, Yiling Yang, Cecilia Huang, Stephen Crystal, Amy Davidow, Kevin Haynes, Tobias Gerhard, Carlos D Rose, Brian L Strom, Daniel B Horton","doi":"10.1097/RHU.0000000000002154","DOIUrl":"10.1097/RHU.0000000000002154","url":null,"abstract":"<p><strong>Background/objective: </strong>Little is known about the rates of rheumatic disease diagnosis among children during the COVID-19 pandemic. We examined the impact of the pandemic on the diagnosis of juvenile idiopathic arthritis (JIA) in the United States.</p><p><strong>Methods: </strong>We performed a historical cohort study using US commercial insurance data (2016-2021) to identify children aged <18 years without prior JIA diagnosis or treatment in the prior ≥12 months. New JIA diagnoses were identified using a combination of ICD-10-CM diagnosis codes, location, and timing of medical services. Crude rates with 95% confidence intervals (CIs) of JIA diagnosis per 100,000 enrolled children per quarter were estimated and stratified by age group, sex, region, JIA type, and uveitis. The incidence rate ratio (95% CI) for JIA diagnosis was estimated using Poisson regression, adjusted for various demographic variables.</p><p><strong>Results: </strong>From 2018-2021, 643 children were diagnosed with JIA. Crude new JIA diagnoses per 100,000 children per quarter dropped from 2.62 (95% CI, 2.39-2.87) prepandemic to 1.94 (95% CI, 1.66-2.25) during the pandemic. Declines in JIA diagnosis were more apparent in the US Northeast and West regions and among children aged 6-11 years. After adjustment for covariates, JIA diagnoses fell by 30% during the pandemic compared with the prior 3 years (IRR, 0.70; 95% CI, 0.59-0.83).</p><p><strong>Conclusions: </strong>Compared with the prepandemic period, JIA was diagnosed 30% less often during the early pandemic among commercially insured children in the United States. More research is needed to understand the underlying reasons for these changes in JIA diagnosis and more recent trends.</p>","PeriodicalId":14745,"journal":{"name":"JCR: Journal of Clinical Rheumatology","volume":"31 1","pages":"40-44"},"PeriodicalIF":2.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11665894/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Genetic Risk Scores for the Clinical Rheumatologist.","authors":"Austin M Wheeler, Thomas R Riley, Tony R Merriman","doi":"10.1097/RHU.0000000000002152","DOIUrl":"10.1097/RHU.0000000000002152","url":null,"abstract":"<p><strong>Background/historical perspective: </strong>The advent of genome-wide sequencing and large-scale genetic epidemiological studies has led to numerous opportunities for the application of genetics in clinical medicine. Leveraging this information toward the formation of clinically useful tools has been an ongoing research goal in this area. A genetic risk score (GRS) is a measure that attempts to estimate the cumulative contribution of established genetic risk factors toward an outcome of interest, taking into account the cumulative risk that each of these individual genetic risk factors conveys. The purpose of this perspective is to provide a systematic framework to evaluate a GRS for clinical application.</p><p><strong>Summary of current literature: </strong>Since the initial polygenic risk score methodology in 2007, there has been increasing GRS application across the medical literature. In rheumatology, this has included application to rheumatoid arthritis, gout, spondyloarthritis, lupus, and inflammatory arthritis.</p><p><strong>Major conclusions: </strong>GRSs are particularly relevant to rheumatology, where common diseases have many complex genetic factors contributing to risk. Despite this, there is no widely accepted method for the critical application of a GRS, which can be a particular challenge for the clinical rheumatologist seeking to clinically apply GRSs. This review provides a framework by which the clinician may systematically evaluate a GRS.</p><p><strong>Future research directions: </strong>As genotyping becomes more accessible and cost-effective, it will become increasingly important to recognize the clinical applicability of GRSs and identify those of the highest utility for patient care. This framework for the evaluation of a GRS will also help ensure reliability among GRS research in rheumatology, thereby helping to advance the field.</p>","PeriodicalId":14745,"journal":{"name":"JCR: Journal of Clinical Rheumatology","volume":" ","pages":"26-32"},"PeriodicalIF":2.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11888151/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142500746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Sonographic and Disease Activity Findings Related With Medication Change in JIA: A Historical Cohort Study.","authors":"Ysabella Esteban, Pinar Ozge Avar-Aydin, Tracy V Ting, Amy Cassedy, Patricia Vega-Fernandez","doi":"10.1097/RHU.0000000000002171","DOIUrl":"10.1097/RHU.0000000000002171","url":null,"abstract":"<p><strong>Background: </strong>Musculoskeletal ultrasound (MSUS) is increasingly used to evaluate pediatric inflammatory arthritis. This study aimed to explore the relationship between MSUS findings with medication modifications in patients with juvenile idiopathic arthritis (JIA) and clinical disease activity measurements (clinical Juvenile Arthritis Disease Activity Score [cJADAS-10], active joint count [AJC], patient/parent global assessment [PPGA], and physician global assessment [PGA]).</p><p><strong>Methods: </strong>Data from patients with JIA who underwent a 12-joint (bilateral second and third metacarpophalangeal, wrist, elbow, knee, and ankle) MSUS examination during a 57-month period were collected. Patients were categorized into 2 groups: a medication change group and a control group (patients without medication change). A pediatric-specific MSUS scoring system was used to assess MSUS findings. The association between clinical and MSUS findings was examined for the study groups.</p><p><strong>Results: </strong>A total of 38 patients, 23 in the medication change group and 15 in the control group were included. The medication change group had higher AJC, PGA, and cJADAS-10. These patients also had a statistically significant presence of abnormal knee MSUS findings. For other joints, the frequency of abnormal MSUS findings was slightly higher in patients with a medication change, but the difference was not statistically significant. No strong correlation was observed between MSUS findings and clinical disease activity measurements.</p><p><strong>Conclusions: </strong>Abnormal MSUS findings were not observed to be higher in patients with a change in medication except for the involvement of the knee joint. Further longitudinal studies are needed to understand the role of MSUS in the medical decision-making process in JIA.</p>","PeriodicalId":14745,"journal":{"name":"JCR: Journal of Clinical Rheumatology","volume":" ","pages":"20-25"},"PeriodicalIF":2.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11708985/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142620696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Michael Manansala, Janelle Castellino, Shilpa Arora, Augustine M Manadan
{"title":"Nationwide Analysis of Variables Associated With Sarcoid Inpatient Mortality.","authors":"Michael Manansala, Janelle Castellino, Shilpa Arora, Augustine M Manadan","doi":"10.1097/RHU.0000000000002162","DOIUrl":"10.1097/RHU.0000000000002162","url":null,"abstract":"<p><strong>Background: </strong>Sarcoidosis is a multisystem autoimmune disease that can result in significant morbidity and mortality. This study aims to identify factors associated with in-hospital death for sarcoid patients on a national level.</p><p><strong>Methods: </strong>We performed a medical records review study of all adult sarcoid hospitalizations from 2016 to 2020 National Inpatient Sample database. A univariable screen followed by multivariable analysis was completed to identify predictors of in-hospital death among sarcoid patients.</p><p><strong>Results: </strong>There were 405,650 admissions with a diagnosis of sarcoidosis, 10,210 of whom died. Multivariable analysis showed the following factors were independently associated with a higher odds of in-hospital death: age (odds ratio [OR], 1.03; 95% confidence interval [CI], 1.026-1.034), Charlson Comorbidity Index (OR, 1.09; 95% CI, 1.066-1.116), male sex (OR, 1.21; 95% CI, 1.101-1.331), other race (OR, 1.45; 95% CI, 1.073-1.954), arrhythmia/heart blocks (OR, 1.80; 95% CI, 1.617-1.995), cirrhosis/hepatic failure (OR, 8.26; 95% CI, 6.928-9.844), hemophagocytic lymphohistiocytosis (OR, 11.15; 95% CI, 4.172-29.802), infection (OR, 3.31; 95% CI, 3.007-3.633), interstitial lung disease (OR, 1.31; 95% CI, 1.193-1.438), heart failure/myocarditis (OR, 1.29; 95% CI, 1.157-1.436), neurologic diagnoses (OR, 1.37; 95% CI, 1.241-1.502), and pulmonary hypertension (OR, 1.47; 95% CI, 1.305-1.652).</p><p><strong>Conclusions: </strong>Our multiyear national analysis showed that 2.5% of hospital admissions with a sarcoid diagnosis ended in death. The following factors were associated with death: age, Charlson Comorbidity Index, male sex, other race, arrhythmia/heart blocks, cirrhosis/hepatic failure, hemophagocytic lymphohistiocytosis, infection, interstitial lung disease, heart failure/myocarditis, neurologic diseases, and pulmonary hypertension. This information can help clinicians by improving awareness of these life-threatening complications because early recognition and intervention may improve inpatient sarcoid outcomes.</p>","PeriodicalId":14745,"journal":{"name":"JCR: Journal of Clinical Rheumatology","volume":" ","pages":"1-6"},"PeriodicalIF":2.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142620726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Chaolan Wang, Ke Lin, Yan Jiang, Kangrong Wu, Hong Zhang, Jian Chen, Na Li, Wanpei Luo, Tianbao Liu, Shuang Du
{"title":"Association of Klotho and Gout in Middle-Aged and Older Adults: National Health and Nutrition Survey (2007-2016).","authors":"Chaolan Wang, Ke Lin, Yan Jiang, Kangrong Wu, Hong Zhang, Jian Chen, Na Li, Wanpei Luo, Tianbao Liu, Shuang Du","doi":"10.1097/RHU.0000000000002192","DOIUrl":"https://doi.org/10.1097/RHU.0000000000002192","url":null,"abstract":"<p><strong>Background: </strong>Klotho, which is known to negatively regulate metabolic disorders and kidney disease, has a role in gout that remains unclear. This research explored how klotho levels correlate with the prevalence of gout.</p><p><strong>Methods: </strong>Participants aged 40 to 79 from the National Health and Nutrition Examination Survey (2007-2016) were examined in both lines. The connection between klotho levels and gout was analyzed through weighted multivariate logistic regression. Restricted cubic splines were used to assess linearity and investigate the dose-response relationship. To ensure the stability of the results, subgroup and sensitivity analyses were conducted.</p><p><strong>Results: </strong>In total, 9660 individuals participated, with the weighted sample size calculated at 88,892,738.77. The group included 47.79% males (4793), with the median age being 57.00 years. Upon adjusting for all covariates, the multivariate analysis indicated an odds ratio of 0.51 (95% confidence interval [CI]: 0.33~0.78, p = 0.003) for the likelihood of occurrence of gout. When compared with the lowest klotho quartile Q1 (≥151.3, <655.3 pg/mL), the adjusted odds ratios for the subsequent quartiles Q2 (≥655.5, <800.9 pg/mL), Q3 (≥801.0, <991.6 pg/mL), and Q4 (≥991.7, ≤3998.5 pg/mL) were 0.97 (95% CI: 0.68~1.38), 0.78 (95% CI: 0.50~1.21), and 0.48 (95% CI: 0.32~0.73), respectively. Analyses focusing on subgroups and sensitivity confirmed these results.</p><p><strong>Conclusions: </strong>This research found a negative correlation between serum α-klotho concentrations and the occurrence of gout. Those with the highest levels of klotho exhibited the lowest likelihood of gout, indicating potential importance for future studies and clinical uses.</p>","PeriodicalId":14745,"journal":{"name":"JCR: Journal of Clinical Rheumatology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142807256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Two-Year Mortality Predictors in Fragility Fractures-A Medical Records Review Study: Erratum.","authors":"","doi":"10.1097/RHU.0000000000002174","DOIUrl":"https://doi.org/10.1097/RHU.0000000000002174","url":null,"abstract":"","PeriodicalId":14745,"journal":{"name":"JCR: Journal of Clinical Rheumatology","volume":"30 8","pages":"354"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143005611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Onengiya Harry, Brittany Richard, Alysha Taxter, Joseph Skelton
{"title":"Feasibility and Acceptability of a REDCap-Embedded HIPAA-Compliant Text Messaging Application to Track Medication Adherence in Adolescents With Lupus.","authors":"Onengiya Harry, Brittany Richard, Alysha Taxter, Joseph Skelton","doi":"10.1097/RHU.0000000000002142","DOIUrl":"10.1097/RHU.0000000000002142","url":null,"abstract":"<p><strong>Background/objective: </strong>Despite advances in clinical care and treatment options, adolescents with lupus continue to experience adverse health outcomes. Poor adherence to medication regimens is a major contributor to these negative outcomes. The utility of short message service (SMS) in tracking barriers to adherence prospectively remains untested for adolescents with lupus. Our objectives were (1) feasibility of incorporating a Health Insurance Portability and Accountability Act (HIPAA)-compliant SMS text messaging application into REDCap and (2) acceptability of using SMS text messaging to track barriers to medication adherence in adolescents with lupus.</p><p><strong>Methods: </strong>This study is a 12-week pilot cohort study of adolescents with SLE per the 1997 revised American College of Rheumatology. A REDCap-embedded HIPAA-compliant text messaging application was used to send biweekly messages with survey link to track medication adherence. Measures were completed. Descriptive statistics were used to summarize demographics, medical, and acceptability data. Response to text messages and survey completion rates were reported as a measure of feasibility.</p><p><strong>Results: </strong>Most eligible adolescents approached agreed to participate (n = 17, 71% enrollment rate). The cellphone ownership rate among adolescents eligible for participation was 92%. Nine subjects responded to all text messages sent (53% response and completion rate). Eleven subjects (65%) responded to two thirds of the text messages. Overall, 77% of enrolled subjects completed at least half of the surveys sent. Reminders to complete surveys were sent to 30% of enrolled adolescents.</p><p><strong>Conclusions: </strong>This study shows that embedding a HIPAA-compliant SMS text message application in REDCap is feasible and can be used to engage adolescents with chronic conditions in monitoring between clinic visits.</p>","PeriodicalId":14745,"journal":{"name":"JCR: Journal of Clinical Rheumatology","volume":" ","pages":"332-335"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11747896/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}