The aim of this paper is to obtain an initial estimate of people awareness, attitudes and understanding towards epilepsy and to provide a basis for international comparisons. A cross-sectional study conducted during 1995 in Al-Ain City, Dubai and Sharjah Emirates, United Arab Emirates (UAE). We used a simple questionnaire following a two-stage sampling technique. A total of 1050 subjects aged 15 years and above were selected randomly. Of these a total of 892 individuals (86.4%) responded to the study. Seventy-five percent of respondents (665 people) had heard or read about epilepsy. Males and females were similarly familiar with the concept of epilepsy. The age group and education had a positive significant effect on awareness of epilepsy (p < 0.001). Thirty-four percent had occasionally seen a seizure. Nineteen suggested that there is not treatment. Those acquainted with a person with epilepsy were more likely to know that there is treatment. Among those familiar with epilepsy 18.5% believed in cautery and 40% believed in faith healing. A small percentage (7%) of respondents had objections to allowing their children associating with a person with epilepsy at school or in the playground; 68% objected to their children marrying an epileptic person; 10% believed that epileptic people should not be employed in jobs as other people are. In conclusion, unfortunately, knowledge, awareness and attitudes towards epilepsy in the UAE were less compared with surveys conducted in Western countries. The majority lacked information about the causes, nature and treatment of the disease.
Objectives Inborn errors of immunity (IEI) are prevalent in tribal cultures due to frequent consanguineous marriages. Many of these disorders are autosomal recessive, resulting from founder mutations; hence they are amenable to prevention. The primary objective of this study was to evaluate the pathogenicity of novel variants of IEI found among Emiratis. Methods This retrospective data collection study reports novel variants of IEI detected by diagnostic exome sequencing. Pathogenicity prediction was based on scoring tools, amino acid alignment, and Jensen–Shannon divergence values. Results Twenty-one novel variants were identified; nine were frameshift, three nonsense, four intronic (one pathogenic), and five missense (two pathogenic). Fifteen variants were likely pathogenic, of which 13 were autosomal recessive and two uncertain inheritance. Their clinical spectra included combined immunodeficiency, antibody deficiency, immune dysregulation, defects in intrinsic/innate immunity, and bone marrow failure. Conclusion The described novel pathogenic variants are core to a planned national screening program that aims toward IEI prevention. Future studies, however, are needed to confirm their natural history in individual patients and estimate their prevalence in the community.
Background. The Bacillus Calmette–Guérin (BCG) and rotavirus vaccines are live-attenuated preparations. In the United Arab Emirates, these products are universally administered to the young infants. This unguided practice does not account for the children with immunodeficiency, which frequently manifests after the administration of these vaccines. We present here a young infant with immunodeficiency that developed disseminated tuberculosis infection and severe diarrhea due to these improper immunizations. Case Presentation. This young infant was diagnosed at six months of age with “immunodeficiency type 19” (MIM#615617) due to homozygous nonsense variant, NM_000732.4 (CD3D):c.128G > A, p.Trp43∗ (variation ClinVar#VCV000643120.1; pathogenic). This variant creates premature stop-gain in CD3D (CD3 antigen, delta subunit, autosomal recessive; MIM#186790), resulting in loss-of-function. He also had “X-linked agammaglobulinemia” (MIM#300755) due to hemizygous missense variant, NM_001287344.1 (BTK):c.80G > A, p.Gly27Asp (novel). He had a sibling who passed away in infancy of unknown disease and family members with autoimmune disorders. Despite these clear clues, he was immunized with BCG at birth and rotavirus at 2 and 4 months. He was well in the first four months. He then developed high-fever, lymphadenopathy, and refractory diarrhea. Stool was positive for rotavirus, and lymph node biopsy showed acid-fast bacilli, consistent with tuberculosis lymphadenitis. These infections were serious and markedly complicated his clinical course, which included bone marrow transplantation from a matched sibling. Conclusions. These unfortunate events could have been avoided by compiling the available clinical information. This patient underscores the importance of implementing proper policies for BCG and rotavirus vaccinations. International registries of adverse events of universally administered vaccines are crucial.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.