Key Points Question What are the clinical, genetic, and laboratory characteristics of Middle Eastern patients with multisystem inflammatory syndrome in children (MIS-C)? Findings In this cohort study of 45 patients with MIS-C of primarily Arab and Asian origins, an enrichment of rare, likely deleterious immune-related genetic variants was found, with a possible association between genetic findings and MIS-C onset and resistance to treatment. Meaning These findings suggest that comprehensive genetic profiling of patients with MIS-C of diverse ethnicities is essential to characterize the genetic contribution to this disease.

The landscape and clinical utility of comprehensive genomic investigations for a wide range of pediatric rheumatic disorders have not been fully characterized in the Middle East. Here, 71 pediatric patients, of diverse Arab origins, were clinically and genetically assessed for a spectrum of rheumatology‐related diseases at the only dedicated tertiary children's hospital in the United Arab Emirates. Clinical genomic investigations included mainly (76%) next‐generation sequencing‐based gene panels and whole‐exome sequencing, along with rapid sequencing in the intensive care unit and urgent setting. The overall positive yield was 46.5%, whereas dual diagnoses were made in two cases (3%). Although the majority (21/33, 64%) of positive findings involved the MEFV gene, the remaining (12/33, 36%) alterations were attributed to 11 other genes/loci. Copy number variants (CNVs) contributed substantially (5/33, 15.2%) to the overall diagnostic yield. Sequencing‐based testing, specifically rapid sequencing, had a high positive rate and delivered timely results. Genetic findings guided clinical management plans and interventions in most cases (27/33, 81.8%). We highlight unique findings and provide additional evidence that heterozygous loss of function of the IFIH1 gene increases susceptibility to recurrent fevers. Our study provides new insights into the pathogenic variation landscape in pediatric rheumatic disorders.

Background Rare diseases collectively impose a significant burden on healthcare systems, especially in underserved regions, like the Middle East, which lack access to genomic diagnostic services and the associated personalized management plans. Methods We established a clinical genomics and genetic counseling facility, within a multidisciplinary tertiary pediatric center, in the United Arab Emirates to locally diagnose and manage patients with rare diseases. Clinical genomic investigations included exome-based sequencing, chromosomal microarrays, and/or targeted testing. We assessed the diagnostic yield and implications for clinical management among this population. Variables were compared using the Fisher exact test. Tests were 2-tailed, and P < .05 was considered statistically significant. Results We present data on 1000 patients with rare diseases (46.2% females; average age, 4.6 years) representing 47 countries primarily from the Arabian Peninsula, the Levant, Africa, and Asia. The cumulative diagnostic yield was 32.5% (95% CI, 29.7–35.5%) and was higher for genomic sequencing-based testing than chromosomal microarrays (37.9% versus 17.2%, P = 0.0001) across all indications, consistent with the higher burden of single gene disorders. Of the 221 Mendelian disorders identified in this cohort, the majority (N = 184) were encountered only once, and those with recessive inheritance accounted for ~ 62% of sequencing diagnoses. Of patients with positive genetic findings (N = 325), 67.7% were less than 5 years of age, and 60% were offered modified management and/or intervention plans. Interestingly, 24% of patients with positive genetic findings received delayed diagnoses (average age, 12.4 years; range 7–37 years), most likely due to a lack of access to genomic investigations in this region. One such genetic finding ended a 15-year-long diagnostic odyssey, leading to a life-threatening diagnosis in one patient, who was then successfully treated using an experimental allogenic bone marrow transplant. Finally, we present cases with candidate genes within regions of homozygosity, likely underlying novel recessive disorders. Conclusions Early access to genomic diagnostics for patients with suspected rare disorders in the Middle East is likely to improve clinical outcomes while driving gene discovery in this genetically underrepresented population.

This study was conducted to determine the prevalence and the local antibiogram of multidrug-resistant Acinetobacter baumannii isolates in Al-Hussein Hospital at King Hussein Medical Centre in Amman, Jordan. In a retrospective study from January to December 2013, data on 116 non-repetitive positive clinical samples were retrieved from patients' laboratory records. The resistance rates of A. baumannii isolates were high for ceftriaxone, cefotaxime and ticarcillin (100%), ceftazidime, cefepime and piperacillin (98.3%), imipenem (97.4%), piperacillin/ tazobactam (96.6%), quinolones (94.8%), ampicillin/sulbactam (89.7%), gentamicin, (87.9%), tobramycin and tetracycline (76.7%) and trimethoprim/sulfamethoxazole (75.9%), but lower for minocycline (26.7%) and colistin (1.7%). A. baumannii in our hospital were highly resistant to all antibiotics, including tigecycline, except for minocycline and colistin which are considered the last resort treatment for multidrug-resistant A. baumannii. baumannii étaient élevés pour la céftriaxone, la céfotaxime et la ticarcilline (100 %), la ceftazidime, la céfépime et la pipéracilline (98,3 %), l'imipénème (97,4 %), la pipéracilline/le tazobactam (96,6 %), les quinolones (94,8 %), l'ampicilline/le sulbactam (89,7 %), la gentamicine (87,9 %), le tobramycine et la tétracycline (76,7 %) et le triméthoprime/le sulfaméthoxazole (75,9 %), mais étaient moins élevés pour la minocycline (26,7 %) et la colistine (1,7 %). Dans notre hôpital, A. baumannii était très résistant à tous les antibiotiques, notamment à la tigécycline, sauf à la minocycline et à la colistine, qui étaient considérées comme le traitement de dernier recours contre les souches d'A. baumannii multirésistantes. ‫حسني‬ ‫امللك‬ ‫مركز‬‫املتوسط‬ ‫لرشق‬ ‫الصحية‬ ‫املجلة‬ ‫العرشون‬ ‫و‬ ‫احلادي‬ ‫املجلد‬ ‫عرش‬ ‫احلادي‬ ‫العدد‬ 829

Infections caused by the Leuconostoc species have been increasingly described in the literature. They are Gram-positive, catalase-negative cocci that are intrinsically resistant to glycopeptides, including vancomycin. Although rarely pathogenic in humans, they have been primarily found in patients with immunosuppression, and a history of prolonged antibiotics use. We report a rare case of central venous catheter (CVC) infection caused by Leuconostoc citreum, which was successfully treated with salvaging of the CVC, aiming to highlight the potential risk factors and share the course of management of our patient.