FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4387463742> ?p ?o ?g. }

• W4387463742 abstract "<h3>Background</h3> Monogenic causes are increasingly being detected in pediatric rheumatological diseases (PRDs).[^1] Monogenic disorders are inborn errors of immunity resulting into innate immune disturbance and autoinflammation. With increasing awareness and diagnostics, PRDs are diagnosed with increasing frequency and accuracy in Nepal. <h3>Objectives</h3> To describe the profile of children diagnosed with PRDs and monogenic causes explored on them at a tertiary care center in Nepal during 2020-2022. <h3>Methods</h3> Case records of patients diagnosed with PRDs during Aug 2020-November 2022 were analysed. The lead author (DB) collated data from all patients. Diagnosis and treatments were based on internationally acclaimed guidelines. Genotyping was done by whole exome sequencing and/or sanger sequencing. <h3>Results</h3> The availability of subspecialists, diagnostics, and therapeutics has shifted the paradigm of PRDs in developing countries. A total of 454 patients with PRDs were diagnosed. Mean duration from initial presentation to diagnosis was 12.5 months. Juvenile idiopathic arthritis (JIA) (including systemic JIA) (n = 131), connective tissue disorders (n = 113) and vasculitides (n = 104) constituted the largest proportion of PRDs. Arthritis related to infection was observed in 42 cases whereas autoinflammatory disorders were diagnosed in 29. Monogenic causes were detected in 19 patients (<b>Table 1</b>). Majority were of non-inflammosome related conditions. Causative genes were <i>CECR1, ARPC1B, TNFAIP3, NLRP3, TNFRSF1A, MVK, PSTPIP1, NOD2, NLRP3, STX11, TNFRSF6, XIAP, BMPR2, PIK3CD, CTLA4, GATA2</i> and <i>C1QA</i>. Clinical features included recurrent fever, rashes, edema, lymphadenopathy, arthritis, vasculitis, ear and ocular issues, organomegaly, and various multisystemic symptoms. Treatment of polyarteritis nodosa with mycophenolate mofetil and idiopathic calcinosis with methotrexate and pamidronate were notable reports from our cohort. Oligoarthritis in X-linked agammaglobulinemia was a peculiar finding. One child with the monogenic PRD has undergone hematopoietic stem cell transplantation. <h3>Conclusion</h3> We present first and largest cohort of PRDs from Nepal. Noticeable number of unique monogenic causes of PRDs were diagnosed for the first time in the country. There are significant challenges in diagnosis and treatment of PRDs in resource-limited settings. Various socioeconomic and environmental factors coupled with lack of awareness, fewer referrals, and inexpedient treatment accounted for a late presentation, missed diagnosis, increased morbidity, disability, and mortality. <h3>Reference</h3> [1] Tangye SG, Al-Herz W, Bousfiha A, et al. Human Inborn Errors of Immunity: 2022 Update on the Classification from the IUIS Expert Committee. J Clin Immunol. 2022;1-35 <h3>Acknowledgements:</h3> NIL. <h3>Disclosure of Interests</h3> None Declared." @default.
• W4387463742 created "2023-10-10" @default.
• W4387463742 creator A5031282415 @default.
• W4387463742 creator A5047918651 @default.
• W4387463742 creator A5067625725 @default.
• W4387463742 creator A5091818896 @default.
• W4387463742 date "2023-05-30" @default.
• W4387463742 modified "2023-10-11" @default.
• W4387463742 title "POS0759 MONOGENIC DISORDERS IN THE MAIDEN COHORT OF PEDIATRIC RHEUMATOLOGICAL DISEASES OF NEPAL- A SPECK OF IMPRINT ON EVEREST" @default.
• W4387463742 doi "https://doi.org/10.1136/annrheumdis-2023-eular.971" @default.
• W4387463742 hasPublicationYear "2023" @default.
• W4387463742 type Work @default.
• W4387463742 citedByCount "0" @default.
• W4387463742 crossrefType "proceedings-article" @default.
• W4387463742 hasAuthorship W4387463742A5031282415 @default.
• W4387463742 hasAuthorship W4387463742A5047918651 @default.
• W4387463742 hasAuthorship W4387463742A5067625725 @default.
• W4387463742 hasAuthorship W4387463742A5091818896 @default.
• W4387463742 hasBestOaLocation W43874637421 @default.
• W4387463742 hasConcept C104317684 @default.
• W4387463742 hasConcept C126322002 @default.
• W4387463742 hasConcept C16005928 @default.
• W4387463742 hasConcept C187212893 @default.
• W4387463742 hasConcept C2777077863 @default.
• W4387463742 hasConcept C2777575956 @default.
• W4387463742 hasConcept C2780132546 @default.
• W4387463742 hasConcept C501734568 @default.
• W4387463742 hasConcept C54355233 @default.
• W4387463742 hasConcept C71924100 @default.
• W4387463742 hasConcept C76818968 @default.
• W4387463742 hasConcept C86803240 @default.
• W4387463742 hasConceptScore W4387463742C104317684 @default.
• W4387463742 hasConceptScore W4387463742C126322002 @default.
• W4387463742 hasConceptScore W4387463742C16005928 @default.
• W4387463742 hasConceptScore W4387463742C187212893 @default.
• W4387463742 hasConceptScore W4387463742C2777077863 @default.
• W4387463742 hasConceptScore W4387463742C2777575956 @default.
• W4387463742 hasConceptScore W4387463742C2780132546 @default.
• W4387463742 hasConceptScore W4387463742C501734568 @default.
• W4387463742 hasConceptScore W4387463742C54355233 @default.
• W4387463742 hasConceptScore W4387463742C71924100 @default.
• W4387463742 hasConceptScore W4387463742C76818968 @default.
• W4387463742 hasConceptScore W4387463742C86803240 @default.
• W4387463742 hasLocation W43874637421 @default.
• W4387463742 hasOpenAccess W4387463742 @default.
• W4387463742 hasPrimaryLocation W43874637421 @default.
• W4387463742 hasRelatedWork W2316822442 @default.
• W4387463742 hasRelatedWork W2405634423 @default.
• W4387463742 hasRelatedWork W2560260758 @default.
• W4387463742 hasRelatedWork W2563362192 @default.
• W4387463742 hasRelatedWork W2901883939 @default.
• W4387463742 hasRelatedWork W2910586724 @default.
• W4387463742 hasRelatedWork W3097370318 @default.
• W4387463742 hasRelatedWork W3158974035 @default.
• W4387463742 hasRelatedWork W3165577823 @default.
• W4387463742 hasRelatedWork W4291414602 @default.
• W4387463742 isParatext "false" @default.
• W4387463742 isRetracted "false" @default.
• W4387463742 workType "article" @default.