A deep dive into monogenic lupus: insights on DNASE1L3 mutation.

Objective: In this study, we aim to describe the largest cohort of monogenic lupus caused by DNASE1L3 yet reported, describing its phenotypic characteristics and outcomes.

Methods: We performed a multicentre retrospective chart review for enrolled patients with childhood-onset systemic lupus erythematosus (cSLE) followed in pediatric rheumatology tertiary centers in the Sultanate of Oman. We included cSLE patients with genetically confirmed DNASE1L3 mutation.

The prevalence, epidemiological characteristics and mortality trends of inflammatory myopathies patients in Oman: the Prevision study.

Objectives: This research aims to investigate the prevalence, epidemiological characteristics, mortality rates, survival rates and the rate of malignancy in patients diagnosed with inflammatory myopathies (IIM) in Oman.

Methods: This is a longitudinal study, that covered a span of 16 years at eight rheumatology centres in Oman. The study included all adults and paediatric patients diagnosed with different types of idiopathic inflammatory myopathies (IIM) and who fulfil either the Bohan classification criteria or the 2017 EULAR/ACR classification criteria.

Vogt-Koyanagi-Harada Syndrome (VKHS): First Two Cases Reported in Pediatric Age Group in Oman.

The Vogt-Koyanagi-Harada syndrome (VKHS) is a unique form of granulomatous autoimmune disease that mostly impacts the pigmented tissues of the body. The main feature is bilateral granulomatous panuveitis, which is detected on ophthalmologic examination, along with additional systemic signs such as vitiligo, white hair, neurological involvement, or hearing loss. This study aims to report two cases of Vogt-Koyanagi-Harada syndrome presented in the children age group, which is unusual and very rare, to improve recognition of this disease to avoid complications and delay referral.

COVID-19 Mortality in Patients with Rheumatic Diseases: A Real Concern.

Background: Coronavirus disease 2019 (COVID 19) is a worldwide pandemic that has devastated the world in a way that has not been witnessed since the Spanish Flu in 1918. In this study, we aim to investigate the outcomes of patients with rheumatic diseases infected with COVID-19 in Oman.

Methods: A multi-center retrospective cohort study included patients with underlying rheumatological conditions and COVID-19 infection.

Transition readiness in adolescents and young adults with chronic rheumatic disease in Oman: today's needs and future challenges.

Introduction: In Oman, the ""transition" of health care of adolescents to adult care occurs at a young age, like many other GCC countries for cultural reasons. In order to address this concern, this study was conducted to determine the transition readiness skills of adolescents and young adults with childhood onset rheumatic diseases using a cross-cultural adaptation of the UNC TRxANSITION scale.

Methods: We used a professionally translated/back translated, provider-administered UNC TRANSITION Scale.

Evaluating the performance of ACR, SLICC and EULAR/ACR classification criteria in childhood onset systemic lupus erythematosus.

Background: The ACR 1997, SLICC 2012 and EULAR/ACR 2019 classification criteria were validated based on adult patients. To date, there are no classification criteria specific for children with SLE. The aim of the study is to compare the performance characteristics among the three SLE classification criteria (ACR-1997, SLICC-2012 and EULAR/ACR-2019) in childhood onset SLE (cSLE) cohort of Arab ethnicity from Oman.

SARS-CoV-2-related Multisystem Inflammatory Syndrome in Children: A case series.

On 27 April 2020, the National Health Service England issued an emergency alert for a new condition owing to the observation of an increasing number of cases of a COVID-19-related hyperinflammatory syndrome termed multisystem inflammatory syndrome in children (MIS-C). Some of the presenting symptoms appeared similar to the Kawasaki disease and toxic shock syndrome. We report the cases of six children fitting the criteria of MIS-C, admitted to Royal Hospital and Sohar Hospital, Oman, between the months of June and July in 2020.

Determinants of Discordance Between Criteria for Inactive Disease and Low Disease Activity in Juvenile Idiopathic Arthritis.

Objective: To assess concordance among criteria for inactive disease (ID) and low disease activity (LDA) in juvenile idiopathic arthritis (JIA) and to seek factors driving discordance.

Methods: The frequency of fulfillment of existing criteria was evaluated in information on 10,186 patients extracted from 3 cross-sectional data sets. Patients were divided up according to the functional phenotypes of oligoarthritis and polyarthritis.

Cumulative Damage in Juvenile Idiopathic Arthritis: A Multicenter Study From the Pediatric Rheumatology Arab Group.

Objective: To report the cumulative articular and extraarticular damage in Arab children with juvenile idiopathic arthritis (JIA) and to identify variables that correlate with disease damage.

Methods: We conducted a multicenter, cross-sectional study among 14 pediatric rheumatology centers from 7 Arab countries. JIA patients who met the International League of Associations for Rheumatology classification criteria and had a disease duration of >1 year were enrolled.

Urticarial vasculitis in pediatric systemic lupus erythematosus.

Background/objectives: To determine the prevalence of urticarial vasculitis (UV) in a pediatric systemic lupus erythematosus (pSLE) cohort of Arab ethnicity from Oman and to describe their demographic, clinical, and laboratory features.

Methods: We conducted a retrospective multicenter study among pediatric rheumatology centers in Oman over a 10-year period from 2008 to 2018. Analyses were performed using univariate statistics.

The Omani Arabic version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR).

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Omani Arabic language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients.

Epidemiology of juvenile idiopathic arthritis in Oman.

Background: There is a worldwide variation in the prevalence and subtype distribution of juvenile idiopathic arthritis (JIA) which may be affected by ethnicity and genetic factors. The purpose of this study is to determine the prevalence, subtype distribution and characteristic features of JIA among Omani children and to compare our results with other ethnic populations worldwide.

Methods: A population-based, multicenter study among pediatric rheumatology clinics in the Sultanate over a 10 year period between 2004-2013.

Geographical Clustering of Juvenile Onset Systemic Lupus Erythematosus within the Sultanate of Oman.

Objective: While SLE is found worldwide, there is diversity in clinical presentation of the disease according to geographical variations. The aim of this study is to describe geographical distributions of childhood onset SLE within Oman to identify geographical clustering and to compare the demographic, clinical, and immunological characteristics of this cluster against the rest of Oman.

Methods: We retrospectively reviewed the hospital charts of 104 consecutive children with childhood onset SLE who were seen in pediatric rheumatology centers in the Sultanate of Oman over a 15-year period between 1995 and 2010.

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.

Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbidity. As is typical for many other multifactorial disorders, much of the heritability of SLE remains unknown. We identified a rare autosomal recessive form of SLE, in which autozygome analysis revealed a null mutation in the DNASE1L3 gene.