Diagnosis Of Rheumatic Diseases Research Articles

The Management of Patients with Extrapulmonary Sarcoidosis in Rheumatology Clinic

Abstract Background This study aimed to evaluate patients with extrapulmonary and refractory sarcoidosis who were followed up on in our rheumatology clinic for a long follow-up period and to summarise the applications in rheumatology practice. Materials and Methods The study included patients diagnosed with sarcoidosis at our institution between 2010 and 2022. Patientsʼ age, sarcoidosis diagnosis dates, inflammatory rheumatic disease (iRMD) diagnoses, autoimmune markers, and imaging findings were all evaluated. Estimates were made for cases of glucocorticoid (GC) use and cumulative and mean daily GC exposures. Results 90 patients with sarcoidosis, 79 (87.8) female and 11 (12.2) male, whose mean age was 56.4±12.4 years, were included. Since 48 (53.3%) of the patients required at least one additional treatment in addition to CS, they were classified as having refractory sarcoidosis and followed up accordingly. While 43 (89%) of the patients received second-line sarcoidosis treatment, it was found that 5 patients were switched to third-line sarcoidosis treatment (p<0.001). Comorbidity distributions of refractory and nonrefractory patients were similar. It was determined that 9 (10%) patients had a history of osteoporotic fracture. Conclusions In conclusion, it appears critical to develop a detailed patient management plan and a multidisciplinary approach in the early stages of extrapulmonary sarcoidosis management. There is currently no detailed algorithm covering refractory disease definition and treatment practice differences.

Development and validation of an image-based questionnaire ARTROVIS to identify risk factors for the articular syndrome and related conditions

Background: The importance of timely diagnosis of rheumatic diseases is beyond any doubt. However, in the real practice the time from manifestation of the first symptoms to the assessment by a rheumatologist and treatment administration often exceeds the window of opportunity for disease control. At the moment, there has been no Russian-language questionnaire that would allow a primary care physician to suspect a rheumatic disease manifesting with an articular syndrome. Aim: To develop, validate and test a questionnaire to identify risk factors for joint disorders and related conditions. Methods: From November 2022 to April 2024, we performed the study on the image-based questionnaire on identification of the risk factors for joint syndromes and associated conditions (ARTROVIS), which we have developed for early detection of both joint syndromes, as well as comorbid conditions associated with elevated serum uric acid levels (hyperuricemia). The initial test version of the questionnaire was tested in a focus group of respondents (n = 20) who came for regular medical examination. Based on the results of this face validity assessment, we corrected the wording of 10 questionnaire items. At the second study step, we assessed the primary validity and reliability of the questionnaire in a group of 41 rheumatology patients. The third study step involved 828 respondents (408 men and 420 women, median age 19 [18,0; 20,0] years; 21% with joint syndromes), who came for routine medical examination. The reliability of the questionnaire, its face and discriminant validity, as well as sensitivity and specificity (the ROC analysis) were assessed from 827 questionnaires included in the final processing (one was excluded due to questionnaire completion defects). Results: The self-report questionnaire for patients (ARTROVIS) has 24 items aimed at collecting social and demographic data, identifying risk factors for non-communicable diseases, assessing genetic aspects, identifying complaints from various organ systems, providing information on medical treatments taken by the patient (non-steroid anti-inflammatory agents, diuretics, antihypertensives, glucocorticosteroids, chemotherapy and radiation therapy), as well as an additional question for women on current pregnancy pathology. The questionnaire contains visual aids (colored photos) that facilitate the detection of clinical signs of autoimmune (psoriatic arthritis, Reynolds’s syndrome) and inflammatory rheumatic disease (gout), as well as the differential diagnosis of the joint syndrome. The assessment of face validity of the questionnaire showed the total number of missed answers of 3.42%; 62.85% of the respondents gave their full answers to all items. Good discriminant validity was demonstrated. The ROC analysis showed high correlation between the questionnaire score and the presence of a joint syndrome: the area under the curve was 0.884. The Cronbach’s alfa was 0.798, which is sufficient for a medical questionnaire. Conclusion: We have performed the approbation and standardization of the questionnaire to identify risk factors for the joint syndrome and related comorbidities by assessing its validity and reliability. The ARTROVIS as a self-report questionnaire can be used in primary care as a tool enabling general practitioners and internists to decide on further patient routing to corresponding specialists.

An 8-year single-centre experience of patients with subclinical rheumatic carditis.

Transthoracic echocardiography is the gold standard method for screening and confirmation of acute rheumatic fever and subclinical rheumatic heart disease. Secondary antibiotic prophylaxis that is regularly employed in subclinical rheumatic heart disease may help to reverse mild rheumatic carditis lesions, delay the progression of the disease, reduce morbidity and mortality, and improve patients' quality of life. We retrospectively evaluated the outcomes of 180 patients with subclinical rheumatic heart disease who were followed up for a mean of 4.92 ± 2.0 (3.5-6.5) years. Between 1 March 2015 and 31 December 2023, 180 patients diagnosed with subclinical rheumatic heart disease with a mean follow-up of 4.92 ± 2.0 (3.5-6.5) years were included in the study. Of the patients, 50.6% were male, 49.4% were female, mean age at diagnosis was 11.74 ± 3.18 (9.68-13.65) years, and mean follow-up period was 4.92 ± 2.0 (3.5-6.5) years. Further, 87.2 % of the patients had mitral valve regurgitation, 38.3% had aortic valve regurgitation, and 27.2% had both valve (aortic and mitral valve) regurgitation. Moreover, Sydenham chorea was also diagnosed in 7.8% the patients. Of the patients, 90% had mild rheumatic heart disease, 7.8% had moderate rheumatic heart disease, and 2.2% had severe rheumatic heart disease. After the diagnosis of rheumatic heart disease, 76.7% patients received regular and 23.3% irregular secondary benzathine penicillin G prophylaxis. We believe that echocardiography demonstrates its efficacy and safety profile in reducing the risk of rheumatic heart disease in patients diagnosed with subclinical rheumatic carditis and complying with regular secondary antibiotic prophylaxis.

Head to head comparison of 18F-FDG and Al18F-NOTA-FAPI-04 PET/CT imaging used in diagnosis of autoimmune rheumatic diseases.

The aim of this study was to determine the performance of radionuclide-labeled fibroblast activation protein inhibitors (Al18F-NOTA-FAPI-04) PET/CT in patients with autoimmune rheumatic diseases (ARDs) and compare it with fluorine-18 (18F) labeled fluorodeoxyglucose (FDG) imaging. Fifty-eight participants with ARDs were prospectively enrolled from April 2022 to February 2024 and underwent dual-tracer PET/CT imaging. For both 18F-FDG and Al18F-NOTA-FAPI-04 PET/CT, imaging findings were interpreted and compared. The clinical significance was compared between18F-FDG PET/CT and Al18F-NOTA-FAPI-04 PET/CT imaging. 18F-FDG imaging was positive in 53 out of 58 cases (91.4%) while Al18F-NOTA-FAPI-04 imaging was positive in 55 out of 58 cases (94.8%). Overall positive rate of Al18F-NOTA-FAPI-04 imaging was as high as 18F-FDG imaging (P = 0.625). 18F-FDG imaging detected more lesions in lymph node, spleen, and bone marrow. Al18F-NOTA-FAPI-04 imaging detected more lesions in the lung, muscle, and tendon/ligament. There was no statistical difference of composing ratio of grades of clinical significance between two imaging modalities (χ2 = 2.875, P = 0.238). The superior rate of Al18F-NOTA-FAPI-04 PET/CT imaging was higher than 18F-FDG imaging (P = 0.020). In subgroup of adult-onset Still's disease, 18F-FDG imaging showed better performance than Al18F-NOTA-FAPI-04 imaging. In most of the other subgroup of ARDs, Al18F-NOTA-FAPI-04 PET/CT imaging overperformed 18F-FDG imaging. Both 18F-FDG and Al18F-NOTA-FAPI-04 PET/CT imaging have excellent sensitivity in ARDs. The detection capabilities of two tracers varied according to the involving organs of ARDs. In most of ARDs except adult-onset Still's disease, Al18F-NOTA-FAPI-04 PET/CT imaging overperformed 18F-FDG imaging. Key Points • 18F-FDG and Al18F-NOTA-FAPI-04 PET/CT imaging have excellent sensitivity in diagnosing of ARDs. • 18F-FDG PET/CT imaging detected more lesions in lymph node, spleen, and bone marrow. • 18F-NOTA-FAPI-04 PET/CT imaging detected more lesions in the lung, muscle, and tendon/ligament. • 18F-NOTA-FAPI-04 PET/CT imaging overperformed18F-FDG in most subgroups of ARDs.

Double-negative T cells in pediatric rheumatic diseases.

Double-negative (CD4-CD8-) T (DNT) cells have been implicated in Autoimmune Lymphoproliferative Syndrome (ALPS), where their expansion inside the circulating pool of T cells represents a diagnostic criterion. Recent experimental evidence has supported the immunomodulatory roles of DNT cells, and studies in adult patients have suggested that they may be altered in some immune-mediated conditions. This study aimed to retrieve available data on circulating DNT cells in pediatric rheumatic disorders that do not arise in the context of ALPS through a systematic literature review of three scientific databases (PubMed, Scopus, and Web of Science). The final output of the systematic literature search consisted of eight manuscripts, including cross-sectional (n=6) and longitudinal (n=2) studies. Overall, the pooled population of patients includes children affected with pediatric Systemic Lupus Erythematosus (n=104), Juvenile Idiopathic Arthritis (n=92), Behçet's disease (n=15), mixed connective tissue disease (n=8), Juvenile Dermatomyositis (n=6), and Kawasaki disease/multisystem inflammatory disease in children (n=1 and n=14, respectively); moreover, one study also included 11 children with a high titer of antinuclear antibody but no diagnosis of rheumatic disease. All studies except one included a control group. The number of DNT cells were increased in most studies of children with rheumatic diseases. Even if such a limited number of studies and their great heterogeneity in several methodological aspects do not allow for reliable conclusions about the relevance of DNT cells in specific rheumatic conditions in children, this cell population deserves further investigation in this pathological setting through well-designed clinical studies.

Diagnostic Value of Whole-Body MRI in Pediatric Patients with Suspected Rheumatic Diseases.

Background and Objectives: The diagnosis of rheumatic diseases in children is challenging and requires the use of advanced imaging examinations such as whole-body magnetic resonance imaging (MRI). Whole-body MRI allows visualization of bone marrow edema (BME), muscle edema, joint effusion and changes in the soft tissues surrounding the joints. The aim of this study was to collect and compare whole-body MRI findings, laboratory results and clinical manifestations of pediatric patients with suspected rheumatic disease. Materials and methods: In this retrospective single-center study, 33 patients who underwent whole-body MRI were included. Their age ranged from 9 to 17 years, and 24 (72.73%) of the patients were female. Patients were diagnosed as follows: juvenile idiopathic arthritis (27.27%), juvenile idiopathic inflammatory myopathies (21.21%), chronic nonbacterial osteomyelitis (21.21%) and other medical conditions (30.30%), such as arthritis associated with infection, scleroderma, Takayasu arteritis, polyarteritis nodosa and joint damage. Results: The most common symptom reported by 26 (79.79%) patients was pain. On physical examination, the limitation of joint mobility was examined in 17 (51.51%), swelling of the joints was observed in 12 (36.36%) patients and decreased muscle strength was noticed in 11 (33.33%) patients. An increase in the C-reactive protein (12%), erythrocyte sedimentation rate (9%), leukocyte count (9%) and creatine kinase (CK) (18%) was observed. Whole-body MRI revealed myositis (30%), joint effusion (27%) and BME (24%). The statistical analysis showed a significant relationship between myositis and the elevated CK level (p < 0.05). Conclusions: The most common symptom in the studied population was pain, while the limitation of joint mobility was found in more than half of patients. Myositis was the most commonly imaged lesion on the whole-body MRI and it was related to an increase in the CK level.

Clinical profile of paediatric acute rheumatic fever and rheumatic heart disease in Western Australia: 1987 to 2020.

To describe the clinical profile of acute rheumatic fever (ARF) presentations to paediatric cardiology tertiary services in Western Australia (WA). A retrospective clinical audit of individuals with confirmed ARF referred to the only paediatric tertiary cardiac service in WA (1 January 1987 to 31 December 2020). Comparisons between inpatient, outpatient, remote and non-remote groups were assessed. Four hundred seventy-one episodes of ARF in 457 individuals (235 male; median age = 8 years) met clinical criteria. The majority were Aboriginal and Torres Strait Islander children (91.2%), with 62.1% living in remote areas. The number of ARF and rheumatic heart disease (RHD) diagnoses per year increased from 1987 to 2017 with notable peaks in 2013 and 2017. The average annual incidence of tertiary-referred ARF in WA of 4-15-year-olds from 1987 to 2020 was 4.96 per 100 000. ARF features included carditis (59.9%), chorea (31%), polyarthritis (30%) and polyarthralgia (24.2%). RHD was evident in 61.8% of cases and predominantly manifested as mitral regurgitation (55.7%). Thirty-four children (7.4%) with severe RHD underwent valvular surgery. 12% had at least one recurrent ARF episode. Remote individuals had more than double the rate of recurrence compared to non-remote individuals (P = 0.0058). Compared to non-remote episodes, remote presentations had less polyarthritis (P = 0.0022) but greater proportions of raised ESR (P = 0.01), ASOT titres (P = 0.0073), erythema marginatum (P = 0.0218) and severe RHD (P = 0.0133). The high proportion of Aboriginal and Torres Strait Islander Australians affected by ARF/RHD in WA reflects the significant burden of disease within this population. Children from remote communities were more likely to present with concurrent severe RHD. Our study reinforces the persisting need to improve primary and secondary ARF initiatives in rural and remote communities.

Diagnostic Accuracy of a Mobile AI-Based Symptom Checker and a Web-Based Self-Referral Tool in Rheumatology: Multicenter Randomized Controlled Trial.

The diagnosis of inflammatory rheumatic diseases (IRDs) is often delayed due to unspecific symptoms and a shortage of rheumatologists. Digital diagnostic decision support systems (DDSSs) have the potential to expedite diagnosis and help patients navigate the health care system more efficiently. The aim of this study was to assess the diagnostic accuracy of a mobile artificial intelligence (AI)-based symptom checker (Ada) and a web-based self-referral tool (Rheport) regarding IRDs. A prospective, multicenter, open-label, crossover randomized controlled trial was conducted with patients newly presenting to 3 rheumatology centers. Participants were randomly assigned to complete a symptom assessment using either Ada or Rheport. The primary outcome was the correct identification of IRDs by the DDSSs, defined as the presence of any IRD in the list of suggested diagnoses by Ada or achieving a prespecified threshold score with Rheport. The gold standard was the diagnosis made by rheumatologists. A total of 600 patients were included, among whom 214 (35.7%) were diagnosed with an IRD. Most frequent IRD was rheumatoid arthritis with 69 (11.5%) patients. Rheport's disease suggestion and Ada's top 1 (D1) and top 5 (D5) disease suggestions demonstrated overall diagnostic accuracies of 52%, 63%, and 58%, respectively, for IRDs. Rheport showed a sensitivity of 62% and a specificity of 47% for IRDs. Ada's D1 and D5 disease suggestions showed a sensitivity of 52% and 66%, respectively, and a specificity of 68% and 54%, respectively, concerning IRDs. Ada's diagnostic accuracy regarding individual diagnoses was heterogenous, and Ada performed considerably better in identifying rheumatoid arthritis in comparison to other diagnoses (D1: 42%; D5: 64%). The Cohen κ statistic of Rheport for agreement on any rheumatic disease diagnosis with Ada D1 was 0.15 (95% CI 0.08-0.18) and with Ada D5 was 0.08 (95% CI 0.00-0.16), indicating poor agreement for the presence of any rheumatic disease between the 2 DDSSs. To our knowledge, this is the largest comparative DDSS trial with actual use of DDSSs by patients. The diagnostic accuracies of both DDSSs for IRDs were not promising in this high-prevalence patient population. DDSSs may lead to a misuse of scarce health care resources. Our results underscore the need for stringent regulation and drastic improvements to ensure the safety and efficacy of DDSSs. German Register of Clinical Trials DRKS00017642; https://drks.de/search/en/trial/DRKS00017642.

Acute rheumatic fever and rheumatic heart disease: updates in diagnosis and treatment.

To summarize the latest developments in rheumatic fever and rheumatic heart disease (RHD) prevention, (early) diagnosis, and treatment. The revised Jones criteria have demonstrated increased sensitivity and specificity for rheumatic fever diagnosis in high-risk populations. The management of rheumatic fever remains symptom-based, with no treatment options proven to alter the disease course or prevent chronic RHD. The revised World Heart Federation (WHF) guidelines for the echocardiographic diagnosis of RHD encourage task-shifting of RHD screening, extending reach in endemic regions. These guidelines also present an A-D classification of RHD and provide recommendations for the management of early disease. Integrated models for RHD screening within existing health structures are emerging and automated intelligence is showing potential to support RHD screening and diagnosis. Innovative strategies to foster adherence and equitable access to secondary prophylaxis, such as re-examination of the efficacy of oral penicillin, trials of longer acting penicillin formulations and implants are underway. There is renewed interest and investment in a well tolerated and effective GAS vaccine. We are living in a time of possibility with global acceleration to address the prevailing burden of RHD. Together, we can ensure that RHD does not once again fall off the global health agenda, until equitable elimination has been achieved.

Immunofluorescence Patterns of Antinuclear Antibodies in the Indian Population

Autoimmune diseases are chronic hypersensitive diseases that occur due to an inability of the immune system to recognize self-antigens as part of its system. Antinuclear autoantibodies (ANA) are antibodies that target the proteins located in the nucleus, mitotic spindle, nuclear membrane, and cytoplasmic substructures. Detection of ANA is done using either the ANA-IIF or by ELISA method; the latter might be slightly more sensitive as compared to the ANA-IIF but the specificity is however low. ANA patterns such as nuclear, cytoplasmic, and mitotic can be important to clinical practice because they suggest the significance, as well as the nature of autoimmune Connective Tissue Disorder (CTDs). ANA is a predictor of autoimmune diseases, and the risk is greater in female individuals. The specific objective of this study was to assess the prevalence of ANA and the detection of demographic correlations with them; thereby it would help in the identification of the various autoantibody subclasses in the Indian people. The present cross-sectional descriptive study included 351 patient records from a tertiary care hospital in Kolkata, India expounds on the association of multiple ANA patterns with certain autoantibodies, and demography of the ANA-positive patients. Knowledge of such regional variations of autoimmune diseases would be useful to formulate a strategy for proper diagnosis of systemic autoimmune rheumatic diseases (SARDs) in India.

In-hospital outcomes of patients with myelodysplastic syndromes and rheumatic heart disease: A National Inpatient Sample study (2018-2020).

e18525 Background: Autoimmune conditions are relatively uncommon in patients with Myelodysplastic syndromes (MDS), with only a small proportion of patients affected. Among these autoimmune conditions, rheumatic heart disease (RHD) is the most commonly associated with MDS. Very few cases have been reported in literature that show the impact of RHD on patients diagnosed with MDS. In this study, we aimed to investigate the impact of RHD on the patients with myelodysplastic syndrome who were admitted in hospitals from 2018-2020. Methods: We utilized National Inpatient Sample (NIS) 2018-2020 to identify hospitalizations of patients with Myelodysplastic syndromes with a secondary diagnosis of Rheumatic heart disease. The primary outcomes examined were In-patient mortality and average length of stay, All the patients with MDS were divided into two cohorts based on the presence of rheumatic heart disease. Multivariable regression analyses were conducted, taking into account demographics, hospital-level characteristics, and pertinent comorbidities as adjusting factors. Results: Using the NIS dataset from 2018 to 2020, we identified 222,364 patients admitted with MDS during this period. Among them, 4.57% (10,162 patients) also had a diagnosis of rheumatic heart disease (RHD). The average age of patients with MDS and RHD was 80 years. Among these patients, 50.1% were male and 49.9% were female. The mortality rate among patients admitted with MDS and coexisting RHD was 7.7%. Multivariate regression analysis indicated that the presence of RHD increased the likelihood of mortality with an odds ratio (OR) of 1.2 (95% confidence interval [CI]: 1.0-1.4, p-value &lt;0.05). Additionally, RHD was associated with a higher incidence of arrhythmias (OR: 2.9) and congestive heart failure (OR: 5.0) among MDS patients. The total hospital charges were more in patients with RHD than those without RHD ($80108 vs $82843). However, there was no significant difference in the length of stay (LOS) between patients with MDS alone and those with MDS and RHD. Conclusions: Rheumatic heart disease (RHD) cases in patients with MDS are rare in clinical practice, leading to uncertainty regarding the effects of RHD on admitted MDS patients. Our study sheds light on the influence of RHD on mortality and other outcomes in this patient population. The efficacy of timely RHD treatment in reducing mortality and improving outcomes among hospitalized MDS patients remains to be verified in future investigations. [Table: see text]

Handheld echocardiography for the screening and diagnosis of rheumatic heart disease: a systematic review to inform WHO guidelines

Early detection and diagnosis of acute rheumatic fever and rheumatic heart disease are key to preventing progression, and echocardiography has an important diagnostic role. Standard echocardiography might not be feasible in high-prevalence regions due to its high cost, complexity, and time requirement. Handheld echocardiography might be an easy-to-use, low-cost alternative, but its performance in screening for and diagnosing acute rheumatic fever and rheumatic heart disease needs further investigation. In this systematic review and meta-analysis, we searched Embase, MEDLINE, LILACS, and Conference Proceedings Citation Index-Science up to Feb 9, 2024, for studies on the screening and diagnosis of acute rheumatic fever and rheumatic heart disease using handheld echocardiography (index test) or standard echocardiography or auscultation (reference tests) in high-prevalence areas. We included all studies with useable data in which the diagnostic performance of the index test was assessed against a reference test. Data on test accuracy in diagnosing rheumatic heart disease, acute rheumatic fever, or carditis with acute rheumatic fever (primary outcomes) were extracted from published articles or calculated, with authors contacted as necessary. Quality of evidence was appraised using GRADE and QUADAS-2 criteria. We summarised diagnostic accuracy statistics (including sensitivity and specificity) and estimated 95% CIs using a bivariate random-effects model (or univariate random-effects models for analyses including three or fewer studies). Area under the curve (AUC) was calculated from summary receiver operating characteristic curves. Heterogeneity was assessed by visual inspection of plots. This study was registered with PROSPERO (CRD42022344081). Out of 4868 records we identified 11 studies, and two additional reports, comprising 15 578 unique participants. Pooled data showed that handheld echocardiography had high sensitivity (0·87 [95% CI 0·76-0·93]), specificity (0·98 [0·71-1·00]), and overall high accuracy (AUC 0·94 [0·84-1·00]) for diagnosing rheumatic heart disease when compared with standard echocardiography (two studies; moderate certainty of evidence), with better performance for diagnosing definite compared with borderline rheumatic heart disease. High sensitivity (0·79 [0·73-0·84]), specificity (0·85 [0·80-0·89]), and overall accuracy (AUC 0·90 [0·85-0·94]) for screening rheumatic heart disease was observed when pooling data of handheld echocardiography versus standard echocardiography (seven studies; high certainty of evidence). Most studies had a low risk of bias overall. Some heterogeneity was observed for sensitivity and specificity across studies, possibly driven by differences in the prevalence and severity of rheumatic heart disease, and level of training or expertise of non-expert operators. Handheld echocardiography has a high accuracy and diagnostic performance when compared with standard echocardiography for diagnosing and screening of rheumatic heart disease in high-prevalence areas. World Health Organization. For the Chinese, French, Italian, Persian, Portuguese, Spanish and Urdu translations of the abstract see Supplementary Materials section.

Diagnosis of neuropsychiatric systemic lupus erythematosus by label-free serum microsphere-coupled SERS fingerprints with machine learning

Surface-enhanced Raman spectroscopy (SERS) is a powerful optical technique for non-invasive and label-free bioanalysis of liquid biopsy, facilitating to diagnosis of potential diseases. Neuropsychiatric systemic lupus erythematosus (NPSLE) is one of the subgroups of systemic lupus erythematosus (SLE) with serious manifestations for a high mortality rate. Unfortunately, lack of well-established gold standards results in the clinical diagnosis of NPSLE being a challenge so far. Here we develop a novel Raman fingerprinting machine learning (ML-) assisted diagnostic method. The microsphere-coupled SERS (McSERS) substrates are employed to acquire Raman spectra for analysis via convolutional neural network (CNN). The McSERS substrates demonstrate better performance to distinguish the Raman spectra from serums between SLE and NPSLE, attributed to the boosted signal-to-noise ratio of Raman intensities due to the multiple optical regulation in microspheres and AuNPs. Eight statistically-significant (p-value <0.05) Raman shifts are identified, for the first time, as the characteristic spectral markers. The classification model established by CNN algorithm demonstrates 95.0% in accuracy, 95.9% in sensitivity, and 93.5% in specificity for NPSLE diagnosis. The present work paves a new way achieving clinical label-free serum diagnosis of rheumatic diseases by enhanced Raman fingerprints with machine learning.

The Echocardiographic Diagnosis of Rheumatic Heart Disease: A Review of the Performance of the World Heart Federation Criteria 2012-2023.

The World Heart Federation (WHF) published the first evidence-based guidelines on the echocardiographic diagnosis of rheumatic heart disease (RHD) in 2012. These guidelines have since been applied internationally in research and clinical practice. Substantial research has assessed the utility of the 2012 WHF criteria, including its applicability in low-resource settings. This article summarises the evidence regarding the performance of the guidelines. A scoping review assessing the performance of the guidelines was performed. Cochrane, Embase, Medline, PubMed Lilacs, Sielo, and Portal BVS databases were searched for studies on the performance of the guidelines between January 2012-March 2023, and 4047 manuscripts met the search criteria, of which 34 were included. This included papers assessing the specificity, inter-rater reliability, application using hand-carried ultrasound, and modification of the criteria for simplicity. The review followed the PRISMA Extension for Scoping Reviews guideline. The WHF 2012 criteria were 100% specific for definite RHD when applied in low-prevalence populations. The criteria demonstrated substantial and moderate inter-rater reliability for detecting definite and borderline RHD, respectively. The inter-rater reliability for morphological features was lower than for valvular regurgitation. When applied to hand-carried ultrasound performed by an expert, modified versions of the criteria demonstrated a sensitivity and specificity range of 79-90% and 87-93% respectively for detecting any RHD, performing best for definite RHD. The sensitivity and the specificity were reduced when performed in task-sharing but remains moderately accurate. The WHF 2012 criteria provide clear guidance for the echocardiographic diagnosis of RHD that is reproducible and applicable to a range of echocardiographic technology. Furthermore, the criteria are highly specific and particularly accurate for detecting definite RHD. There are limitations in applying all aspects of the criteria in specific settings, including task-sharing. This summary of evidence can inform the updated version of the WHF guidelines to ensure improved applicability in all RHD endemic regions.

E047 Utilization of complementary and alternative medicine in patients with rheumatological conditions at Kenyatta National Hospital

Abstract Background/Aims The utilization of complementary and alternative medicine (CAM) has recently increased, especially among patients with rheumatic diseases, particularly those experiencing pain and mobility limitations. CAM use poses potential risks, such as drug interactions and adherence to conventional medicine. This study aimed to determine the prevalence of CAM use and evaluate the reasons and determinants among patients with rheumatological diseases who attended the rheumatology outpatient clinic at Kenyatta National Hospital (KNH). Methods In this cross-sectional descriptive study, patients with a confirmed diagnosis of rheumatic disease were enrolled at the rheumatology outpatient clinic of KNH. Consecutive sampling technique was employed to select patients. Data collection utilized two validated tools: the self-administered NAFKAM International - CAM-Questionnaire (I-CAM-Q) for assessing the prevalence and primary reasons for CAM utilization and the SF-36 questionnaire to assess the quality of life. CAM use was determined as a percentage of all study participants. Health-related quality of life (HRQOL) was assessed using the SF-36 questionnaire, and the results were compiled to established norms. Mean scores and standard deviations were calculated for each SF-36 subscale, and patients’ overall health-related quality of life was categorized as either good or poor based on a 50% cut-off score. To determine the association between CAM use and socio-demographic factors, as well as HRQOL, the Chi-square test was used, with statistical significance set at a p-value of &amp;lt; 0.05. Results A total of 151 patients, predominantly female (137), with a median age of 45 (IQR 31.5-56.5) years, participated in the study. The prevalence of CAM use was 55.6%. Among the CAM modalities, vitamins/minerals (94%), prayer for health (80.9%), and herbs/herbal products (69%) were the most frequently used. The primary motivation for CAM utilization was to enhance overall well-being, followed by its adoption as an alternative or co-medication due to the high cost of conventional medicine. Dissatisfaction with conventional medicine emerged as the least common reason. CAM use was not influenced by age, gender, marital status, or level of education but was associated with parameters indicating poorer health, as evidenced by the mental component score and physical component score of SF-36. Conclusion The study highlights a significant prevalence of CAM use among patients with rheumatic diseases, indicating a noteworthy trend in healthcare choices. This suggests that many individuals with severe conditions may seek CAM as an adjunctive approach to managing their health. Alternatively, CAM usage might interfere with adherence to conventional medication, potentially exacerbating disease severity. Healthcare professionals should be vigilant in recognizing CAM usage and assessing whether it is preferred over conventional medicine, facilitating informed decisions and patient-centered care. This research contributes valuable insights into the complex landscape of healthcare choices among patients with rheumatological diseases, shedding light on the importance of holistic healthcare management. Disclosure K.M. Juma: None. G.O. Oyoo: None. E.G. Kalman: None.

THE ROLE OF VASPIN IN RHEUMATOID ARTHRITIS AND OSTEOARTHRITIS

Background: Adipo(cyto)kines are substances derived from adipose tissue that influence central processes in the body like inflammation, in addition to their effect on metabolism. Adipocytokines are implicated in inflammatory pathways that affect different types of cells in autoimmune disorders. Many rheumatic disorders, such as rheumatoid arthritis and psoriatic arthritis, are classified as autoimmune diseases. A chronic inflammatory environment develops as a result of autoimmune reactions, affecting the entire body, notably adipose tissue. Vaspin, an adipocytokine, is a visceral serpin protease inhibitor produced by subcutaneous adipose tissue, skeletal muscle, skin and stomach. Objectives: The present review summarizes the structure, mechanism of action and role of vaspin in the pathophysiology and development of rheumatoid arthritis and osteoarthritis. Methodology: The data was collected through the electronic search of several scientific sources including, Science Direct, PubMed, and Google scholar. Results: Because of changes in systemic vaspin levels, its potential role as a biomarker in the diagnosis of rheumatic diseases has been suggested. Furthermore, vaspin induction by adipose tissue may produce a compensatory response to obesity and its inflammatory consequences. Recent studies have shown that vaspin levels are lower in osteoarthritis and higher in rheumatoid arthritis and psoriatic arthritis compared to healthy control. Moreover, vaspin elevation may assist in predicting who is at risk of developing rheumatoid arthritis. Conclusion: Vaspin inhibitors can attenuate the pathological processes of rheumatoid arthritis and improve the outcome of treatment when used in combination with other inflammatory mediator inhibitors.

Empowering rheumatology through digital health technologies: contributions and barriers

Rheumatology, the medical specialty dealing with the diagnosis and treatment of rheumatic and musculoskeletal diseases (RMDs), is evolving with the emergence of digital health technologies, such as electronic health records (EHRs), virtual visits, mobile health (mHealth), wearable medical devices, social media, websites, digital therapeutics, artificial intelligence (AI) and machine learning. These technologies offer new opportunities to improve essential aspects of care, such as care access or disease management. They can significantly reduce the risk of errors and the workload of rheumatologists, while enhancing communication between physicians and patients, resulting in better quality of care. Moreover, digital health technologies can significantly improve research outcomes. However, digital health technologies in rheumatology also face specific barriers such as privacy, security concerns, incremental costs as well as limited digital health literacy and access. Therefore, further analysis, actions and strategies are needed to overcome these barriers. This article explores the impact of digital health technologies on rheumatology practice and highlights their contributions and challenges. By understanding the immense potential and overcoming the obstacles, the way for a future where digital health technologies are integrated into daily rheumatology care may be envisioned, in order to empower patients and healthcare providers.

Left Atrial Enlargement as a Predictor of Atrial Fibrillation in Rheumatic Mitral Valve Disease: An Echocardiography-based Retrospective Cross-sectional Study.

Rheumatic heart disease is a major cause of cardiovascular morbidity and mortality in developing nations and is a leading cause of hospital admission due to cardiac problems in our country. This study will evaluate the association between left atrial size and the occurrence of atrial fibrillation and describe the clinical characteristics along with complications related to Rheumatic Mitral valve disease. A retrospective cross-sectional study was conducted at a tertiary care center from January 2018 to December 2019. Reports of 207 patients admitted to medical and/or surgical wards with echocardiographic diagnosis of rheumatic mitral valve disease with or without atrial fibrillation were reviewed. Data were collected, entered, and analyzed using the Statistical Package for the Social Science version 25.0. Among 207 patients, atrial fibrillation was present in 90 (43.5%) patients. Atrial fibrillation was higher in patients with mixed mitral valvular lesions compared to isolated mitral stenosis or mitral regurgitation. Univariate and multivariate analysis revealed left atrial size [aOR=1.067, 95% CI: 1.023 - 1.113, P= 0.002] and age [aOR = 1.073, 95% CI: 1.042 - 1.105, P<0.001] as an independent predictor of atrial fibrillation. Larger left atrium was an independent predictor of atrial fibrillation. Besides this, atrial fibrillation was associated with increasing age, mixed mitral valvular lesion, and moderately reduced left ventricular ejection fraction, but not associated with gender and mitral stenosis severity. Left atrial clot was significantly higher in patients with atrial fibrillation than in sinus rhythm.

Genetic Approaches to Study Rheumatic Diseases and Its Implications in Clinical Practice.

Patients with rare and complex rheumatic diseases (RDs) present with immense clinical variability inherent to all immunologic diseases. In addition to systemic and organ-specific inflammation, patients may display features of immunodeficiency or allergy, which may represent major diagnostic and therapeutic challenges. The person's genetic architecture has been a well-established risk factor for patients with RDs, albeit to variable degrees. Patients with early-onset diseases and/or positive family history (FH) have a strong genetic component, whereas patients with late-onset RDs demonstrate a more complex interplay of genetic and environmental risk factors. Overall, the genetic studies in patients with RDs have been instrumental to our understanding of innate and adaptive immunity in human health and disease. The elucidation of the molecular causes underlying rare diseases has played a major role in the identification of genes that are critical in the regulation of inflammatory responses. In addition, studies of patients with rare disorders may help determine the mechanisms of more complex autoimmune diseases by identifying variants with small effect sizes in the same genes. In contrast, studies of patients with common RDs are conducted in cohorts of patients with well-established phenotypes and ancestry-matched controls, and they aim to discover disease-related pathways that can inform the development of novel targeted therapies. Knowing the genetic cause of a disease has helped patients and families understand the disease progression and outcome. Here, we discuss the current understanding of genetic heritability and challenges in the diagnosis of RDs in patients and how this field may develop in the future.

Naifold capillaroscopy in mixed connective tissue disease patients.

Mixed connective tissue disease (MCTD) is a rare systemic disease characterized by overlapping features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), dermato-/polymyositis (DM/PM), and rheumatoid arthritis (RA). Naifold capillaroscopy (NFC) is a non-invasive test for evaluating the capillaries of the nail shaft used in the diagnosis of rheumatic diseases. To determine whether there are characteristic abnormalities in NFC in MCTD patients, and whether the type of NFC lesions correlates with organ involvement in these patients. Clinical picture and NFC patterns were analyzed in 43 patients with MCTD. Capillaroscopic images were divided into scleroderma-like pattern (SD-like pattern) according to the Cutolo classification, non-specific lesions, and normal images. Relationships between the clinical aspects considered in the MCTD classification criteria and the changes in the capillaroscopic images were evaluated. SD-like pattern was present in 20 MCTD patients (46.51%) with a predominance of the "early" pattern. Giant, branched, dilated capillaries and reduced capillary density were found more frequently in MCTD patients compared to the control group (p-values 0.0005, 0.005, 0.02, < 0.0001 respectively). There were associations found between the presence of a reduced number of vessels, avascular areas, and SD-like pattern with the presence of sclerodactyly in MCTD patients (p = 0.002, p = 0.006, p = 0.02, respectively), alongside an association between the presence of branched vessels and the subpapillary plexus with pulmonary arterial hypertension (PAH) (p = 0.04 and p = 0.005, respectively). MCTD patients are significantly more likely to have abnormalities upon NFC. It is worthwhile to perform capillaroscopic examination in MCTD patients. Key Points • Scleroderma-like pattern was found in more than half of the MCTD patients. • Reduced capillary density was found to be a significant predictor of the diagnosis of MCTD. • There were relationships between the presence of reduced capillary density, avascular areas, and SD-like with the presence of sclerodactyly in the MCTD patients. • There was an association between the presence of branched vessels and the visibility of the subpapillary plexus and pulmonary arterial hypertension (PAH).