Publications by authors named "Buthaina Al Adba"
Article Synopsis
- Aicardi-Goutières syndrome (AGS) is an immune-mediated disorder primarily affecting the nervous system, and conventional treatments are largely ineffective.
- A study on JAK1/2 inhibitors showed significant improvement in systemic symptoms of AGS over a median follow-up of 17 months, although neurological benefits were less clear.
- The findings highlight the need for better treatment strategies for AGS's neurological symptoms, emphasizing early diagnosis and potential intrathecal drug delivery for improved outcomes.
Background: Multisystem Inflammatory Syndrome in Children (MIS-C) is a severe complication of coronavirus disease 2019 (COVID-19) in children, which is increasingly being reported worldwide. Here we report the first case series of 7 children diagnosed with MIS-C in Qatar.
Methods: Clinical features and outcomes of COVID-19 positive patients admitted to Sidra Medicine, Qatar from June to October 2020, who met the WHO case definition for MIS-C were reviewed.
Whilst upregulation of type I interferon (IFN) signaling is common across the type I interferonopathies (T1Is), central nervous system (CNS) involvement varies between these disorders, the basis of which remains unclear. We collected cerebrospinal fluid (CSF) and serum from patients with Aicardi-Goutières syndrome (AGS), STING-associated vasculopathy with onset in infancy (SAVI), presumed monogenic T1Is (pT1I), childhood systemic lupus erythematosus with neuropsychiatric features (nSLE), non-IFN-related autoinflammation (AI) and non-inflammatory hydrocephalus (as controls). We measured IFN-alpha protein using digital ELISA.
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