7 results on '"Eman Al Masroori"'
Search Results
2. Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition
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Alice Burleigh, Elena Moraitis, Eman Al Masroori, Eslam Al-Abadi, Ying Hong, Ebun Omoyinmi, Hannah Titheradge, Karen Stals, Wendy D. Jones, Anthony Gait, Vignesh Jayarajan, Wei-Li Di, Neil Sebire, Lea Solman, Malobi Ogboli, Steven B. Welch, Annapurna Sudarsanam, Ian Wacogne, Fiona Price-Kuehne, Barbara Jensen, Paul A. Brogan, and Despina Eleftheriou
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ISG15 deficiency ,ISG15 ,interferonopathy ,microdeletion ,Janus kinase inhibition ,baricitinib ,Immunologic diseases. Allergy ,RC581-607 - Abstract
ISG15 deficiency is a rare disease caused by autosomal recessive variants in the ISG15 gene, which encodes the ISG15 protein. The ISG15 protein plays a dual role in both the type I and II interferon (IFN) immune pathways. Extracellularly, the ISG15 protein is essential for IFN-γ-dependent anti-mycobacterial immunity, while intracellularly, ISG15 is necessary for USP18-mediated downregulation of IFN-α/β signalling. Due to this dual role, ISG15 deficiency can present with various clinical phenotypes, ranging from susceptibility to mycobacterial infection to autoinflammation characterised by necrotising skin lesions, intracerebral calcification, and pulmonary involvement. In this report, we describe novel variants found in two different families that result in complete ISG15 deficiency and severe skin ulceration. Whole exome sequencing identified a heterozygous missense p.Q16X ISG15 variant and a heterozygous multigene 1p36.33 deletion in the proband from the first family. In the second family, a homozygous total ISG15 gene deletion was detected in two siblings. We also conducted further analysis, including characterisation of cytokine dysregulation, interferon-stimulated gene expression, and p-STAT1 activation in lymphocytes and lesional tissue. Finally, we demonstrate the complete and rapid resolution of clinical symptoms associated with ISG15 deficiency in one sibling from the second family following treatment with the Janus kinase (JAK) inhibitor baricitinib.
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- 2023
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3. Correction to: Evaluating the performance of ACR, SLICC and EULAR/ACR classification criteria in childhood onset systemic lupus erythematosus
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Reem Abdwani, Eman Al Masroori, Eiman Abdullah, Safiya Al Abrawi, and Ibrahim Al-Zakwani
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Pediatrics ,RJ1-570 ,Diseases of the musculoskeletal system ,RC925-935 - Published
- 2021
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4. P48 Service evaluation of disease burden of, and damage caused by, wrist arthritis in a single centre paediatric cohort of JIA
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Eman Al Masroori and Eslam Al-Abadi
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Rheumatology - Abstract
Introduction/Background Wrist synovitis is associated with more severe disease and less drug-free remission periods, therefore, the objective of this study was to investigate the demographic, disease course, and complexity of wrist disease in children being treated for Juvenile Idiopathic Arthritis (JIA). Description/Method A single-centre, retrospective case note review of all children and adolescents diagnosed with JIA, who received steroid joint injections of their wrists from 2014 to 2019. All patients received standard therapy and underwent regular follow-up at Birmingham Children’s Hospital. Inclusion criteria were those with an established diagnosis of any JIA-subtype according to the International League of Associations for Rheumatology (ILAR) classification. Patients were excluded if (i) the data were incomplete, (ii) they were over the age of 16y at diagnosis, or (iii) the eventual diagnosis was not JIA. Clinical information was gathered from case notes, departmental databases and hospital clinical systems on to a standardised proforma. Information collected were demographics, JIA subtype, immunology, age at diagnosis, disease duration, number of wrist injections and outcome of every wrist MRI performed. All treatments including intraarticular injections were administered by a paediatric Rheumatologist while MRIs were reviewed by an experienced senior Radiologist. Discussion/Results Of all 94 eligible patients, 88 (94%) were included in this study; 71 girls, with a mean age at diagnosis of 6 years (0-15 years). Wrist arthritis was more common in seronegative polyarthritis (40%) and extended oligoarthritis (23%) but least pronounced in Enthesitis-related arthritis (2%). 85 (95.6%) received Methotrexate therapy with a mean of 10 months from time of diagnosis. 77 patients (88%) required a step-up from MTX, with Etanercept (88%) being the most popular option as a first-line biologics, followed by Adalimumab (11%). All patients who had Adalimumab as a first biologics had evidence of uveitis. Wrist disease was present at diagnosis in 60/88 (68%) of our cohort. 66 patients (75%) had bilateral wrist disease. Over one-quarter of patients who developed wrist arthritis within the first year of diagnosis were young children (0-2 years). A second predominate group was adolescent (10-15 years) accounting for 33% of our cohort. The mean (IQR) duration between diagnosis and first clinical evidence of wrist synovitis was 15 months (1–17). Patients had a median of 3 years from diagnosis until development of first radiological evidence of erosive changes. 12 children (14%) from this cohort underwent a laparoscopic synovectomy for their wrist damage between 2017 and 2021, out of which 9 had polyarticular involvement while two had extended and one had persistent oligoarticular arthritis. Half of the patients reported improvement in pain and Health Assessment Questionnaire (HAQ) scores after synovectomy, while three remained stable at 0 score, and 3 had insufficient data. Key learning points/Conclusion Treatment of wrist arthritis can be challenging to both professionals and health care systems, emphasizing the need for clear steps to improve early recognition and treatment. Wrist disease at presentation was relatively common in our cohort and damage once occurred was irreversible with patients continuing to have ongoing disease activity despite optimization of their treatment. Furthermore, MRI as shown in our analysis, can accurately detect early erosive changes and inform management decision.
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- 2022
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5. Evaluating the performance of ACR, SLICC and EULAR/ACR classification criteria in childhood onset systemic lupus erythematosus
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Eman Al Masroori, Ibrahim Al-Zakwani, Safiya Al Abrawi, Eiman Abdullah, and Reem Abdwani
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musculoskeletal diseases ,medicine.medical_specialty ,Population ,Last follow up ,Diseases of the musculoskeletal system ,Pediatrics ,RJ1-570 ,Rheumatology ,immune system diseases ,Internal medicine ,medicine ,Immunology and Allergy ,skin and connective tissue diseases ,education ,education.field_of_study ,Adult patients ,business.industry ,Mean age ,RC925-935 ,Multicenter study ,Pediatrics, Perinatology and Child Health ,Cohort ,Population study ,business ,Research Article - Abstract
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. Methods We conducted a retrospective multicenter study in Oman of cSLE patients as cases and patients with other rheumatic disease with a positive ANA titer as controls. The cSLE cases recruited were children diagnosed with SLE before 13 years of age. Data was retrospectively collected to establish the ACR-1997, SLICC-2012 and EULAR/ACR-2019 criteria fulfilled at first visit, first year follow up and last follow up. Results Study population included 113 cSLE cases (mean age at diagnosis of 7.3 ± 3.4 years with disease duration of 6.1 ± 4.6 years) and 51 controls (mean age at diagnosis 5.0 ± 3.4 with disease duration 5.7 ± 3.9). The cSLE cases had higher frequency of familial SLE than controls (38% vs 7.8%; p Conclusion In this cSLE population, EULAR/ACR 2019 scored better at initial presentation, first year and last assessment follow up. Further multinational studies are needed to validate the appropriate cut off score for the newly proposed ACR/EULAR 2019 classification criteria in cSLE to increase early sensitivity and specificity for cSLE classification.
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- 2021
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6. Correction to: Evaluating the performance of ACR, SLICC and EULAR/ACR classification criteria in childhood onset systemic lupus erythematosus
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Eman Al Masroori, Safiya Al Abrawi, Ibrahim Al-Zakwani, Eiman Abdullah, and Reem Abdwani
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Male ,medicine.medical_specialty ,Adolescent ,business.industry ,Correction ,Diseases of the musculoskeletal system ,Dermatology ,Pediatrics ,Rheumatology ,RJ1-570 ,RC925-935 ,Child, Preschool ,Internal medicine ,Pediatrics, Perinatology and Child Health ,Humans ,Lupus Erythematosus, Systemic ,Immunology and Allergy ,Medicine ,Female ,Child ,business ,Retrospective Studies - Abstract
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.We conducted a retrospective multicenter study in Oman of cSLE patients as cases and patients with other rheumatic disease with a positive ANA titer as controls. The cSLE cases recruited were children diagnosed with SLE before 13 years of age. Data was retrospectively collected to establish the ACR-1997, SLICC-2012 and EULAR/ACR-2019 criteria fulfilled at first visit, first year follow up and last follow up.Study population included 113 cSLE cases (mean age at diagnosis of 7.3 ± 3.4 years with disease duration of 6.1 ± 4.6 years) and 51 controls (mean age at diagnosis 5.0 ± 3.4 with disease duration 5.7 ± 3.9). The cSLE cases had higher frequency of familial SLE than controls (38% vs 7.8%; p 0.001). The performance measures demonstrated that EULAR/ACR-2019 criteria had the highest sensitivity (81, 88, 89%) compared to ACR 1997 (49, 57, 66%) and SLICC 2012 (76, 84,86%); while the ACR 1997 had the highest specificity (96%) compared to SLICC 2012 (94%) and EULAR/ACR 2019 (90%) at first visit, first year and last assessment. When we increased the threshold score to ≥13 rather than the traditional score ≥ 10 for ACR/EULAR 2019, there was increased specificity (96%) at the expense of lower sensitivity (76, 83, and 84%) at first visit, first year and last assessment.In this cSLE population, EULAR/ACR 2019 scored better at initial presentation, first year and last assessment follow up. Further multinational studies are needed to validate the appropriate cut off score for the newly proposed ACR/EULAR 2019 classification criteria in cSLE to increase early sensitivity and specificity for cSLE classification.
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- 2021
7. Incidence and outcome of group B streptococcal invasive disease in Omani infants
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Eman Al. Masroori, Hilal Al Hashami, and Wafa Bani Uraba
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Pediatrics ,medicine.medical_specialty ,050402 sociology ,LOGBS (late onset GBS) ,Population ,Group B ,Sepsis ,03 medical and health sciences ,0302 clinical medicine ,0504 sociology ,EOGBS (early onset GBS) ,030225 pediatrics ,medicine ,Original Research Article ,education ,Prospective cohort study ,education.field_of_study ,GBS (group B streptococcus) ,business.industry ,Incidence (epidemiology) ,05 social sciences ,lcsh:RJ1-570 ,lcsh:Pediatrics ,Emergency department ,medicine.disease ,Pediatrics, Perinatology and Child Health ,Observational study ,business ,Meningitis - Abstract
Objectives: Group B streptococcus (GBS) infection is a serious disease that continues to cause high morbidity and mortality. It is one of the leading cause of sepsis; particularly meningitis, in infants and young children all around the world. In this study, we aim to identify the incidence of GBS sepsis in Omani infants less than 3 months of age who were born at Royal Hospital and who presented with clinical sepsis and positive culture. In addition, we aim to describe the clinical presentation and complications noted on admission and then on follow-up visit. Methods: This is an observational retrospective chart review study. It included all Omani infants (0–3 months) who were diagnosed to have GBS sepsis/meningitis from 2006 to 2016 at the Royal Hospital, Muscat, Sultanate of Oman. Results: There were 83,000 live births in the Royal Hospital over a period of 10 years. Thirty-eight babies had culture proven GBS infection, with an overall incidence rate of neonatal GBS of 0.46 per 1000 live births with 95% confidence intervals. There were no significant variations in the annual rates of infection during the study period, ranging from around 1–7 cases per year. Additional 5 cases of GBS sepsis presented to Royal Hospital are either through Emergency Department or as referrals from other hospitals, giving us a total of 43 cases of proven GBS infections. Out of the 43 cases, 8 were born prematurely (19%), either before (
- Published
- 2019
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