Performance of the EULAR/ACR 2019 classification criteria for systemic lupus erythematous in monogenic lupus.

OBJECTIVE: To evaluate the application of the EULAR/ACR-2019 criteria to monogenic lupus patients and compare its performance against the SLICC-2012 criteria. METHODS: In a multicenter retrospective cohort study, consecutive patients with monogenic lupus from three tertiary lupus clinics were enrolled. The diagnosis of monogenic lupus was based on the expert physician's opinion or fulfilling the SLICC-2012 criteria. All enrolled patients had genetic variants. A control group of sporadic childhood SLE (cSLE) and non-SLE patients, were included. A descriptive data analysis was conducted, and the EULAR/ACR-2019 and SLICC-2012 criteria were applied to both groups. RESULTS: Forty-nine patients with monogenic lupus with a median age at diagnosis of 6.0 (IQR 3.0-10.8) years and 104 controls (55 patients with cSLE and 49 non-lupus patients with a median age at diagnosis of 10.0 and 5.0 respectively) were included. Forty-four (89.8%) patients with monogenic lupus fulfilled the EULAR/ACR-2019 with a mean score of 22.3±8.9. The most frequent domains were immunologic (93.9%), musculoskeletal and renal (each 57.1%), and mucocutaneous (55.1%). Fifty-four (98.2%) cSLE patients and six (12.2%) non-lupus patients met the EULAR/ACR-2019 criteria with a mean score of 22.5±9.2 and 8.5±5.2, respectively. The sensitivity of the EULAR/ACR-2019 criteria in monogenic lupus was 89.9% (95% CI: 78.3-90.2), while the specificity was 87.6% (95% CI: 75.2-88.7). CONCLUSION: This is the first and largest cohort of monogenic lupus patients testing the performance of the 2019-EULAR/ACR criteria. It efficiently classifies monogenic lupus patients, irrespective of the underlying genetic variants. Further studies are needed before these criteria are adopted worldwide. Key Points • Typically, patients with monogenic lupus have early onset severe disease, especially with mucocutaneous manifestations and a strong family history of SLE. • Monogenic lupus is a distinctive entity and might differ from the sporadic childhood SLE. • Our study includes a large multinational cohort of monogenic lupus with heterogeneous phenotypic features and underlying genetic variants. • Our study demonstrates that the EULAR/ACR-2019 criteria efficiently classified monogenic lupus patients, irrespective of the diversity of the underlying genetic variants.

Diagnostic efficacy and safety of transperineal prostate targeted and systematic biopsy: The preliminary experience of first 100 cases.

BACKGROUND: Post-biopsy urosepsis is a major concern for patient morbidity and cost. Trasperineal biopsy is reported to have less complications and higher detection rate of clinically significant prostate cancer (csPCa). OBJECTIVES: To determine the diagnostic efficacy and safety of transperineal prostate biopsy in patients with elevated prostatic specific antigen (PSA). MATERIAL AND METHODS: A prospective study included men with elevated PSA > 3 ng/ml and previous negative biopsy from January 2018 to April 2019. All patients had multiparametric magnetic resonance imaging (mpMRI) and suspicious lesions reported as Prostate Imaging Reporting and Data System (PIRADS) score version 2. Average twelve systematic and two targeted cores were biopsied under general anaesthesia. Patients received single dose of antibiotic prebiopsy. RESULTS: 100 Consecutive patients having median age 64.0 years and median PSA of 6.1ng/ml were included for mpMRI-US fusion transperineal biopsies. Cancer detection rate was 45% (targeted 38% and systematic 22%) and csPCa were detected in 75.55% (targeted 86.84% and systematic 59.09%). MRI-US fusion targeted biopsies detected 63.88% csPCa in PIRADS 5, 33.33% in PIRADS 4 and 5.88% in PIRADS 3 lesions. PSA > 10 (p = 0.012), PSA density > 0.15 (p = 0.0002), and PIRADS 5 (0.0001) were significantly associated with PCa. Factors like Age (0.0001), initial PSA (0.022) and PSA density (0.006) were significant on univariate analysis while age (0.0001) was significant on multivariate analysis. There was no case of urinary tract infection. CONCLUSIONS: Transperineal prostate biopsy is safe and effective in diagnosing csPCa. There is no risk of sepsis and major complications.

Familial aggregation of juvenile idiopathic arthritis with other autoimmune diseases: Impact on clinical characteristics, disease activity status and disease damage.

OBJECTIVES: To evaluate the impact of family history of autoimmune diseases (FHADs) on the clinical characteristics and outcome of juvenile idiopathic arthritis (JIA). METHODS: We retrospectively reviewed children with JIA seen in 7 pediatric rheumatology clinics from 6 Arab countries. All included patients met the International League of Associations for Rheumatology classification criteria for JIA and had a disease duration greater than 1 year. Data were collected at the last follow-up visit and comprised clinical findings, including FHADs. Disease activity and disease damage were assessed by Juvenile Arthritis Multidimensional Assessment Report, and juvenile arthritis damage index (JADI) respectively. Disease activity was categorized as remission off treatment, remission on treatment, or active disease. RESULTS: A total of 349 (224 females) JIA patients with a disease duration of 5 (interquartile range 2.9-7.5) years were included. The most frequent JIA categories were polyarticular JIA and oligoarticular JIA, followed by systemic JIA. There were 189 patients with FHADs and 160 patients without FHADs. The most frequent FHADs were diabetes mellitus (21.2%), JIA (18.5%), rheumatoid arthritis (12.7%). Among patients with FHADs, 140/189 (74.1%) achieved clinical remission, while 131/160 (81.9%) patients without FHDs had clinical remission (odds ratio [OR] = 1.2, 95% CI 0.97-1.5). Rate of consanguinity, enthesitis-related arthritis (ERA) and psoriatic arthritis were higher in patients with FHADs (OR = 0.6, 95% CI 0.4-0.9 and OR = 1.2, 95% CI 1.1-1.4). Also, articular JADI correlated significantly with presence of FHADs (OR = 1.1, 95% CI 1.0-1.1). CONCLUSION: This study shows that autoimmune diseases cluster within families of patients with JIA with a high proportion of ERA and psoriatic arthritis. JIA patients with FHADs are likely to have more disease damage.