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1. Experts’ Opinion in Fabry Disease Management and the Unmet Medical Need: The Saudi Perspective

Author

Alfadhel M, Al Sannaa N, Sunbul R, Al-Khawaja H, Askandarani S, Alanzi T, Elawad M, and Fourtounas K

Subjects
classical, enzyme replacement therapy, fabry disease, late-onset, monitoring, phenotype., Therapeutics. Pharmacology, RM1-950
Abstract

Majid Alfadhel,1– 3 Nouriya Al Sannaa,4 Rawda Sunbul,5 Huda Al-Khawaja,6 Sumayah Askandarani,7 Talal Alanzi,8 Mamoun Elawad,9 Konstantinos Fourtounas10 1Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia; 2King Saud Bin Abdulaziz University or Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia; 3Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children’s Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia; 4Johns Hopkins Aramco Healthcare, Dhahran, Kingdom of Saudia Arabia; 5Medical Genetic Unit, Pediatric Department, Qatif Central Hospital, Qatif, Saudia Arabia; 6Maternity and Children Hospital, Al Mubarraz, Al-Ahsa, Kingdom of Saudia Arabia; 7Multiorgan Transplant Center, King Fahad Specialist Hospital, Dammam, Eastern Province, Saudi Arabia; 8Division of Clinical Genetics and Metabolic, Department of Pediatrics, Prince Sultan Medical City, Riyadh, Saudi Arabia; 9Prince Sultan Military Medical City, Riyadh, Kingdom of Saudia Arabia; 10Prince Sultan Kidney Center, King Salman Armed Forces Hospital, Tabuk, Kingdom of Saudia ArabiaCorrespondence: Majid Alfadhel, Genetics and Precision Medicine Department, King Abdullah Specialized Children’s Hospital (KASCH), King Abdulaziz Medical City(KAMC), Ministry of National Guard Health Affairs(MNG-HA), Riyadh, Saudi Arabia, 22490, 11426, Tel +966 11 805 3560, Fax +966 11 805 5555, Email dralfadhelm@gmail.comAbstract: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by α-galactosidase A gene mutations. Its global incidence ranges from 1:40,000 to 1:170,000. This expert review evaluates the available guidelines, the status of diagnosed but untreated patients with FD, and the challenges in diagnosing and managing FD in the Kingdom of Saudi Arabia (KSA). An advisory board meeting (ABM) was conducted in two phases, with a survey that aimed to receive insights on the current unmet needs in the management of patients with FD in November 2022, and a second, offline meeting in February 2023. The goal of this ABM was to discuss current unmet needs in the management of Fabry patients in the Kingdom of Saudi Arabia. In the first ABM, experts opined on the best practices in the diagnosis, screening, and management of FD for healthcare professionals. These opinions on the management of FD relied on data from research and expert clinical judgments. In the second ABM, the same panel discussed different aspects of FD diagnosis, treatment, and management in the member countries of the Gulf Cooperation Council. The experts discussed the stigma associated with FD, patient awareness and knowledge, genetic screening, biomarkers, and home infusion therapy. They reviewed international guidelines and clinical criteria for enzyme replacement therapy (ERT). Furthermore, they also discussed the diagnosis of FD in men and women, the current guidelines followed for monitoring patients with FD, monitoring untreated patients with FD, Fabry Stabilization IndeX (FASTEX) as an assessment tool for the diagnosis of FD, FD management in KSA, challenges encountered while prescribing ERT in patients with FD, and the clinical criteria for starting ERT. The discussions led to the conclusion that currently, ERT is the only available therapy to manage FD and research should be focused on the early diagnosis and management of FD.Keywords: classical, enzyme replacement therapy, Fabry disease, late-onset, monitoring, phenotype

Published
2024

2. Distribution of hemoglobinopathy disorders in Saudi Arabia based on data from the premarital screening and genetic counseling program, 2011–2015

Author

Eman S. Alsaeed, Ghada N. Farhat, Abdullah M. Assiri, Ziad Memish, Elawad M. Ahmed, Mohammad Y. Saeedi, Mishal F. Al-Dossary, and Hisham Bashawri

Subjects
Hemoglobinopathy, Thalassemia, Sickle cell disease, Premarital screening, Saudi Arabia, Public aspects of medicine, RA1-1270
Abstract

The prevalence rates of β-thalassemia (β-thal) and Sickle Cell Disease (SCD) in Saudi Arabia are considered one of the highest compared to surrounding countries in the Middle East (0.05% and 4.50%, respectively). In this study, Secondary data analysis was obtained from the premarital screening and genetic counseling program (PMSGC), and included 12,30,582 individuals from February 2011 to December 2015. Prevalence rates (per 1000 population) for β-thal and SCD were calculated for carrier status, disease status and their combination. During the 5-year study period, the overall prevalence rate per 1000 population for β-thal was 13.6 (12.9 for the trait and 0.7 for the disease). The prevalence rate for SCD was 49.6 (45.8 for the trait and 3.8 for the disease). Rates for β-thal were found to decrease from 24.2 in 2011, to 12 in 2015. However, SCD rates remained rather constant and ranged from 42.3 in 2011 to 49.8 in 2015. The highest rate for both β-thal and SCD was observed in the Eastern and Southern regions. This result reflects major accomplishment of the PMSGC. This study recommends further improvement in preventive measures in high-risk regions, and enhanced community awareness to provide the highest rate reduction for these disorders.

Published
2018
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4. P081 The application of multiomics to investigate the evolution of inflammatory bowel disease in pediatric and adult patients

Author

Maccalli, C, primary, Gupta, I, additional, Toufiq, M, additional, Habib, T, additional, Mathew, R, additional, Shobha Manjunath, H, additional, Missous, G N, additional, Mifsud, W, additional, Charles, A, additional, Ammar, A A, additional, Tomei, S, additional, van Panhuys, N, additional, Al-Kaabi, S, additional, Akobeng, A, additional, Al-Mohannadi, M J, additional, and Elawad, M, additional

Published
2023
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10. Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease (Nature Communications, (2020), 11, 1, (995), 10.1038/s41467-019-14275-y)

Author

Serra E. G., Schwerd T., Moutsianas L., Cavounidis A., Fachal L., Pandey S., Kammermeier J., Croft N. M., Posovszky C., Rodrigues A., Russell R. K., Barakat F., Auth M. K. H., Heuschkel R., Zilbauer M., Fyderek K., Braegger C., Travis S. P., Satsangi J., Parkes M., Thapar N., Ferry H., Matte J. C., Gilmour K. C., Wedrychowicz A., Sullivan P., Moore C., Sambrook J., Ouwehand W., Roberts D., Danesh J., Baeumler T. A., Fulga T. A., Carrami E. M., Ahmed A., Wilson R., Barrett J. C., Elkadri A., Griffiths A. M., Zurek M., Strisciuglio C., Elawad M., Lo B., Arancibia-Carcamo C., Bailey A., Barnes E., Bird-Lieberman E. L., Brain O., Braden B., Collier J., East J., Howarth L., Keshav S., Klenerman P., Leedham S., Palmer R., Powrie F., Simmons A., Walker M., Tolkien Z., Kaptoge S., Allen D., Mehenny S., Mant J., Di Angelantonio E., Thompson S. G., Yilmaz B., Juillerat P., Geuking M., Wiest R., Macpherson A. J., Bravo F. D., Brugger L., Carstens O., Bigler U. G., Heimgartner B., Rusticeanu M., Schmid-Uebelhart S., Strebel B., Tatu A., Tutuian R., Oyas O., Ramon C., Stelling J., Franc Y., Fournier N., Pittet V. E. H., Burnand B., Egger M., Golay D., Marot A., Musso L., Rossel J. -B., Seematter V., Sommer J., Vulliamy R., Michetti P., Maillard M. H., Keller C., Nydegger A., Schoepfe A., Archanioti E., Ezri J., Fraga M., Schoepfer A., Muller C., Rogler G., Biedermann L., Blattmann M., Burk S., Dora B., Fried M., Misselwitz B., Mullhaupt B., Obialo N., Pohl D., Raschle N., Scharl M., Vavricka S., Von Kanel R., Zeitz J., Abdelrahman K., Ademi G., Borovicka J., Brand S., Frei R., Haarer J., Knellwolf-Grieger C., Krieger-Grubel C., Kunzler P., Meyenberger C., Meyer P., Rohrich N., Sawatzki M., Schelling M., Semadeni G. -M., Sulz M., Zimmermann D., Aepli P., Criblez D. H., Hess C., Richterich J. -P., Spalinger J., Staudenmann D., Stulz A., Wohrle S., Thomas A., Anderegg C., Kohler H., Kusche R., Antonino A. -T., Arrigoni E., Bengoa J. M., Cunningham S., de Saussure P., Girard L., de Jong D. B., Basturk P., Brunner S., Degen L., Hruz P., Bakker C. K. -D., Niess J., Balsiger B., Haldemann J., Saner G., Seibold F., Bauerfeind P., Becocci A., Belli D., Binek J., Hengstler P., Boehm S., Boldanov T., Buhr P., Koller R., Rueger V., Senning A., Burri E., Buyse S., Cao D. -T., D'Angelo F., Delarive J., Doerig C., Hessler R., Preissler C., Rentsch R., Risti B., Ritz M. A., Steuerwald M., Vogtlin J., Sagmeister M., Sauter B., Schibli S., Sokollik C., Schlauri H., Schnegg J. -F., Seirafi M., Spangenberger H., Stadler P., Staub P., Stenz V., Tempia-Caliera M., Thorens J., Truninger K., Urfer P., Viani F., Vouillamoz D., Zander S., Wyli T., Jostins L., Kennedy N. A., Ahmad T., Lamb C. A., Edwards C., Hart A., Hawkey C., Mansfield J. C., Mowat C., Newman W. G., Tremelling M., Lee J. C., Prescott N. J., Mathew C. G., Lees C. W., McGovern D. P. B., Targan S. R., Botwin G., Mengesha E., Fleshner P., Landers C., Li D., Rioux J. D., Bitton A., Cote-Daigneault J., Daly M. J., Xavier R., Morris K., Boucher G., Cho J. H., Abraham C., Merad M., Sands B., Peter I., Hao K., Itan Y., Duerr R. H., Konnikova L., Schwartz M. B., Proksell S., Johnston E., Miladinova V., Chen W., Brant S. R., Datta L., Silverberg M. S., Schumm L. P., Birch S., Giri M., Gettler K., Sharma Y., Stevens C., Lazarev M., Haritunians T., Snapper S. B., Shah N., Muise A. M., Wilson D. C., Uhlig H. H., Anderson C. A., Serra, E. G., Schwerd, T., Moutsianas, L., Cavounidis, A., Fachal, L., Pandey, S., Kammermeier, J., Croft, N. M., Posovszky, C., Rodrigues, A., Russell, R. K., Barakat, F., Auth, M. K. H., Heuschkel, R., Zilbauer, M., Fyderek, K., Braegger, C., Travis, S. P., Satsangi, J., Parkes, M., Thapar, N., Ferry, H., Matte, J. C., Gilmour, K. C., Wedrychowicz, A., Sullivan, P., Moore, C., Sambrook, J., Ouwehand, W., Roberts, D., Danesh, J., Baeumler, T. A., Fulga, T. A., Carrami, E. M., Ahmed, A., Wilson, R., Barrett, J. C., Elkadri, A., Griffiths, A. M., Zurek, M., Strisciuglio, C., Elawad, M., Lo, B., Arancibia-Carcamo, C., Bailey, A., Barnes, E., Bird-Lieberman, E. L., Brain, O., Braden, B., Collier, J., East, J., Howarth, L., Keshav, S., Klenerman, P., Leedham, S., Palmer, R., Powrie, F., Simmons, A., Walker, M., Tolkien, Z., Kaptoge, S., Allen, D., Mehenny, S., Mant, J., Di Angelantonio, E., Thompson, S. G., Yilmaz, B., Juillerat, P., Geuking, M., Wiest, R., Macpherson, A. J., Bravo, F. D., Brugger, L., Carstens, O., Bigler, U. G., Heimgartner, B., Rusticeanu, M., Schmid-Uebelhart, S., Strebel, B., Tatu, A., Tutuian, R., Oyas, O., Ramon, C., Stelling, J., Franc, Y., Fournier, N., Pittet, V. E. H., Burnand, B., Egger, M., Golay, D., Marot, A., Musso, L., Rossel, J. -B., Seematter, V., Sommer, J., Vulliamy, R., Michetti, P., Maillard, M. H., Keller, C., Nydegger, A., Schoepfe, A., Archanioti, E., Ezri, J., Fraga, M., Schoepfer, A., Muller, C., Rogler, G., Biedermann, L., Blattmann, M., Burk, S., Dora, B., Fried, M., Misselwitz, B., Mullhaupt, B., Obialo, N., Pohl, D., Raschle, N., Scharl, M., Vavricka, S., Von Kanel, R., Zeitz, J., Abdelrahman, K., Ademi, G., Borovicka, J., Brand, S., Frei, R., Haarer, J., Knellwolf-Grieger, C., Krieger-Grubel, C., Kunzler, P., Meyenberger, C., Meyer, P., Rohrich, N., Sawatzki, M., Schelling, M., Semadeni, G. -M., Sulz, M., Zimmermann, D., Aepli, P., Criblez, D. H., Hess, C., Richterich, J. -P., Spalinger, J., Staudenmann, D., Stulz, A., Wohrle, S., Thomas, A., Anderegg, C., Kohler, H., Kusche, R., Antonino, A. -T., Arrigoni, E., Bengoa, J. M., Cunningham, S., de Saussure, P., Girard, L., de Jong, D. B., Basturk, P., Brunner, S., Degen, L., Hruz, P., Bakker, C. K. -D., Niess, J., Balsiger, B., Haldemann, J., Saner, G., Seibold, F., Bauerfeind, P., Becocci, A., Belli, D., Binek, J., Hengstler, P., Boehm, S., Boldanov, T., Buhr, P., Koller, R., Rueger, V., Senning, A., Burri, E., Buyse, S., Cao, D. -T., D'Angelo, F., Delarive, J., Doerig, C., Hessler, R., Preissler, C., Rentsch, R., Risti, B., Ritz, M. A., Steuerwald, M., Vogtlin, J., Sagmeister, M., Sauter, B., Schibli, S., Sokollik, C., Schlauri, H., Schnegg, J. -F., Seirafi, M., Spangenberger, H., Stadler, P., Staub, P., Stenz, V., Tempia-Caliera, M., Thorens, J., Truninger, K., Urfer, P., Viani, F., Vouillamoz, D., Zander, S., Wyli, T., Jostins, L., Kennedy, N. A., Ahmad, T., Lamb, C. A., Edwards, C., Hart, A., Hawkey, C., Mansfield, J. C., Mowat, C., Newman, W. G., Tremelling, M., Lee, J. C., Prescott, N. J., Mathew, C. G., Lees, C. W., Mcgovern, D. P. B., Targan, S. R., Botwin, G., Mengesha, E., Fleshner, P., Landers, C., Li, D., Rioux, J. D., Bitton, A., Cote-Daigneault, J., Daly, M. J., Xavier, R., Morris, K., Boucher, G., Cho, J. H., Abraham, C., Merad, M., Sands, B., Peter, I., Hao, K., Itan, Y., Duerr, R. H., Konnikova, L., Schwartz, M. B., Proksell, S., Johnston, E., Miladinova, V., Chen, W., Brant, S. R., Datta, L., Silverberg, M. S., Schumm, L. P., Birch, S., Giri, M., Gettler, K., Sharma, Y., Stevens, C., Lazarev, M., Haritunians, T., Snapper, S. B., Shah, N., Muise, A. M., Wilson, D. C., Uhlig, H. H., and Anderson, C. A.

Published
2022

11. Adsorption performance of zinc semiconductor nanoparticles in tetracycline removal

Author

John, K.I, Agbor, D., Sani, L.A., Adeleye, A.T., Adenle, A.A., Idris, A.M., Omoniyi, A.O., Babalola, J.O., Osiboye, O.O., Elawad, M., John, K.I, Agbor, D., Sani, L.A., Adeleye, A.T., Adenle, A.A., Idris, A.M., Omoniyi, A.O., Babalola, J.O., Osiboye, O.O., and Elawad, M.

Abstract

Zinc semiconductor nanoparticles have been employed as potential adsorbents for the remediation of organic pollutants. However, the influence of its non-metallic components on the adsorption performance of zinc semiconductor nanoparticles is yet to be understood. Herein, using zinc oxide (ZnO) and zinc chalcogenide (ZnS) as adsorbents, we demonstrated the effect of O and S constituents on the adsorption performance of zinc semiconductor nanoparticles. The morphology, crystallinity, surface area, thermal stability, and the functionals group of both samples were investigated using scanning electron microscopy (SEM), X-ray diffraction spectroscopy (XRD), Brunauer–Emmett–Teller (BET), thermogravimetric analysis (TGA), Fourier Transform Resonance Spectroscopy (FT-IR), respectively. Although the surface area of ZnS was observed to be 26 times that of ZnO, the Langmuir adsorption capacity for (TC) of the latter (78.70 mg/g) was significantly higher than the former (47.79 mg/g). The enhanced adsorption performance by ZnO is ascribed to its high porosity and broader point of zero charges (PZC). The present study establishes the impact of S and O on the adsorption performance of zinc nanoparticle adsorbents.

Published
2022

16. Human AGR2 Deficiency Causes Mucus Barrier Dysfunction and Infantile Inflammatory Bowel Disease

Author

Al-Shaibi, AA, Abdel-Motal, UM, Hubrack, SZ, Bullock, AN, Al-Marri, AA, Agrebi, N, Al-Subaiey, AA, Ibrahim, NA, Charles, AK, Elawad, M, Uhlig, HH, Lo, B, and group, COLORS in IBD-Qatar study

Subjects
Male, digestive system, TFF3, trefoil factor 3, ER, endoplasmic reticulum, HEK293T, Human Embryonic Kidney 293T, Structure-Activity Relationship, Intestinal Metaplasia, Mucoproteins, BiP, Binding Immunoglobulin Protein, Animals, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Intestinal Mucosa, Original Research, Mice, Knockout, Oncogene Proteins, Whole Genome Sequencing, CLCA1, Chloride Channel Accessory 1, IBD, inflammatory bowel disease, AGR2, anterior gradient 2, MUC, mucin, Siblings, Mucins, Sequence Analysis, DNA, respiratory system, Endoplasmic Reticulum Stress, Inflammatory Bowel Diseases, WT, wild-type, TBS, Tris-buffered saline, Disease Models, Animal, Mucus, Phenotype, Gastric Mucosa, MUC2, ER Stress, Disease Susceptibility, Goblet Cells, Biomarkers, AGR2, HA, hemagglutinin
Abstract

Background & Aims The gastrointestinal epithelium plays a crucial role in maintaining homeostasis with the gut microbiome. Mucins are essential for intestinal barrier function and serve as a scaffold for antimicrobial factors. Mucin 2 (MUC2) is the major intestinal gel-forming mucin produced predominantly by goblet cells. Goblet cells express anterior gradient 2 (AGR2), a protein disulfide isomerase that is crucial for proper processing of gel-forming mucins. Here, we investigated 2 siblings who presented with severe infantile-onset inflammatory bowel disease. Methods We performed whole-genome sequencing to identify candidate variants. We quantified goblet cell numbers using H&E histology and investigated the expression of gel-forming mucins, stress markers, and goblet cell markers using immunohistochemistry. AGR2-MUC2 binding was evaluated using co-immunoprecipitation. Endoplasmic reticulum (ER) stress regulatory function of mutant AGR2 was examined by expression studies in Human Embryonic Kidney 293T (HEK293T) using tunicamycin to induce ER stress. Results Both affected siblings were homozygous for a missense variant in AGR2. Patient biopsy specimens showed reduced goblet cells; depletion of MUC2, MUC5AC, and MUC6; up-regulation of AGR2; and increased ER stress. The mutant AGR2 showed reduced capacity to bind MUC2 and alleviate tunicamycin-induced ER stress. Conclusions Phenotype–genotype segregation, functional experiments, and the striking similarity of the human phenotype to AGR2-/- mouse models suggest that the AGR2 missense variant is pathogenic. The Mendelian deficiency of AGR2, termed “Enteropathy caused by AGR2 deficiency, Goblet cell Loss, and ER Stress” (EAGLES), results in a mucus barrier defect, the inability to mitigate ER stress, and causes infantile-onset inflammatory bowel disease., Graphical abstract

Published
2020

19. Enhanced performance of perovskite solar cells using p-type doped PFB:F4TCNQ composite as hole transport layer

Author

Elawad, M., Sun, Licheng, Mola, G. T., Yu, Z., Arbab, E. A. A., Elawad, M., Sun, Licheng, Mola, G. T., Yu, Z., and Arbab, E. A. A.

Abstract

Conjugated polymers have been widely used as hole transport materials (HTM) in the preparation of mesoscopic perovskite solar cells (PSCs). In this work, we employed p-type doped conducting polymer known as poly(9,9-dioctylfluorene-co-bis-N,N-(-4-butyl phenyl)-bis-N,N-phenyl-1,4-phenylenediamine) (PFB) as a hole transport material (HTM) in perovskite based solar cell. The effect of dopant concentration on the optical and electrical properties of PEB was investigated to optimize the electrical properties of the material for the best function of the solar cell. The highest power conversion efficiency of mesoscopic perovskite solar cells (PSCs), fabricated in this investigation, was found to be 14.04% which is 57% higher than that of pristine PFB hole transport layer. The UV–Vis absorption and Raman spectroscopy measurements confirm the occurrence of oxidation in a p-type doped PFB hole transport layer. This is attributed to the transfer of electrons from the highest occupied molecular orbital (HOMO) of PEB to the lowest unoccupied molecular orbital (LUMO) of F4TCNQ. The solar cells produced using p-type doped PFB:F4TCNQ composite not only improves device performances but also shows superior long-term stability. The optical, morphological and electrical properties of the doped composite PFB: F4TCNQ and newly fabricated devices are presented and discussed in this paper., QC 20181109

Published
2019
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21. Real-Life Anti-Tumour Necrosis Factor Experience in > 500 Paediatric United Kingdom Inflammatory Bowel Disease Patients

Author

Merrick, VM, Mortier, K, Williams, LJ, Muhammed, R, Auth, MK, Elawad, M, Fell, JM, Beattie, RM, Loganathan, S, Torrente, F, Morris, M-A, Charlton, C, Croft, NM, Rodrigues, A, Furman, M, Vadamalayan, B, Jenkins, H, Zamvar, V, Mitton, SG, Chong, S, Cosgrove, M, Akobeng, A, Wilson, DC, and Russell, RK

Abstract

OBJECTIVES: To measure the effectiveness, safety and use of anti-Tumour necrosis Factor (TNF) therapy in paediatric inflammatory bowel disease (PIBD) in the United Kingdom (UK). METHODS: Prospective UK audit of patients newly starting anti-TNF therapy. Disease severity was assessed using Physician Global Assessment (PGA) +/or the Paediatric Crohn's Disease Activity Index (PCDAI). RESULTS: 37 centres participated (23 of 25 specialist PIBD sites). 524 patients were included; 429 Crohn's disease (CD), 76 ulcerative colitis (UC), 19 IBD unclassified (IBDU). 87% (488/562) anti-TNF was infliximab; commonest indication was active luminal CD 77% (330/429) or chronic refractory UC/IBDU 56% (53/95); 79% (445/562) had concomitant co-immunosuppression. In CD (267/429 male), median time from diagnosis to treatment was 1.42 years (IQR 0.63-2.97). Disease (at initiation) was moderate or severe in 91% (156/171) by PGA compared to 41% (88/217) by PCDAI; Kappa (Κ) 0.28 = only 'fair agreement' (p

Published
2018

22. Distribution of hemoglobinopathy disorders in Saudi Arabia based on data from the premarital screening and genetic counseling program, 2011-2015

Author

Mohammad Y. Saeedi, Eman S. Alsaeed, Hisham Bashawri, Ghada N. Farhat, Ziad A. Memish, Elawad M. Ahmed, Abdullah M. Assiri, and Mishal F. Al-Dossary

Subjects
Adult, Male, Adolescent, Thalassemia, Genetic counseling, Population, Prevalence, Saudi Arabia, Genetic Counseling, Disease, Anemia, Sickle Cell, Premarital Examinations, 030204 cardiovascular system & hematology, Article, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Humans, Mass Screening, 030212 general & internal medicine, education, Aged, Premarital screening, Aged, 80 and over, education.field_of_study, business.industry, lcsh:Public aspects of medicine, Sickle cell disease, beta-Thalassemia, lcsh:RA1-1270, Secondary data, Middle Aged, medicine.disease, Hemoglobinopathy, Trait, Female, business, Demography
Abstract

The prevalence rates of β-thalassemia (β-thal) and Sickle Cell Disease (SCD) in Saudi Arabia are considered one of the highest compared to surrounding countries in the Middle East (0.05% and 4.50%, respectively). In this study, Secondary data analysis was obtained from the premarital screening and genetic counseling program (PMSGC), and included 12,30,582 individuals from February 2011 to December 2015. Prevalence rates (per 1000 population) for β-thal and SCD were calculated for carrier status, disease status and their combination. During the 5-year study period, the overall prevalence rate per 1000 population for β-thal was 13.6 (12.9 for the trait and 0.7 for the disease). The prevalence rate for SCD was 49.6 (45.8 for the trait and 3.8 for the disease). Rates for β-thal were found to decrease from 24.2 in 2011, to 12 in 2015. However, SCD rates remained rather constant and ranged from 42.3 in 2011 to 49.8 in 2015. The highest rate for both β-thal and SCD was observed in the Eastern and Southern regions. This result reflects major accomplishment of the PMSGC. This study recommends further improvement in preventive measures in high-risk regions, and enhanced community awareness to provide the highest rate reduction for these disorders. Keywords: Hemoglobinopathy, Thalassemia, Sickle cell disease, Premarital screening, Saudi Arabia

Published
2017

23. Phenotypic and genotypic characterisation of inflammatory bowel disease presenting before the age of two years

Author

Kammermeier, J, Dziubak, R, Pescarin, M, Drury, S, Godwin, H, Reeve, K, Chadokufa, S, Huggett, B, Sider, S, James, C, Acton, N, Cernat, E, Gasparetto, M, Noble-Jamieson, G, Kiparissi, F, Elawad, M, Beales, P, Sebire, N, Gilmour, K, Uhlig, H, Bacchelli, C, and Shah, N

Subjects
digestive system diseases
Abstract

Inflammatory bowel disease presenting in early childhood is extremely rare. More recently, progress has been made to identify children with monogenic forms of IBD predominantly presenting very early in life. In this study, we describe the heterogeneous phenotypes and genotypes of patients with IBD presenting before the age of two years and establish phenotypic features associated with underlying monogenicity.Phenotype data of 62 children with disease-onset before the age of two years presenting over the last 20 years were reviewed. Children without previously established genetic diagnosis were prospectively recruited for next-generation sequencing.62 patients (55% male) were identified. The median disease-onset was three months of age [IQR: 1 to 11]. Conventional IBD classification only applied to 15 patients with Crohn's disease-like (24%) and three with ulcerative colitis-like (5%) phenotype. Forty-four patients (71%) were diagnosed with otherwise unclassifiable IBD. Patients frequently required parenteral nutrition (40%), extensive immunosuppression (31%), hematopoietic stem-cell transplantation (29%) and abdominal surgery (19%). In 31% of patients underlying monogenic diseases were established (EPCAM, IL10, IL10RA, IL10RB, FOXP3, LRBA, SKIV2L, TTC37, TTC7A). Phenotypic features significantly more prevalent in monogenic IBD were: consanguinity, disease-onset before the 6(th) month of life, stunting, extensive intestinal disease and histological evidence of epithelial abnormalities.IBD in children with disease-onset before the age of two years is frequently unclassifiable into Crohn's disease and ulcerative colitis, particularly treatment resistant and can be indistinguishable from monogenic diseases with IBD-like phenotype.

Published
2016

25. Glutamine for induction of remission in Crohn's disease.

Author

Akobeng, Anthony, Elawad, M, Gordon, Morris, Akobeng, Anthony, Elawad, M, and Gordon, Morris

Abstract

BACKGROUND: Crohn's disease is a chronic relapsing condition of the alimentary tract with a high morbidity secondary to bowel inflammation. Glutamine plays a key role in maintaining the integrity of the intestinal mucosa and has been shown to reduce inflammation and disease activity in experimental models of Crohn's disease. OBJECTIVES: To evaluate the efficacy and safety of glutamine supplementation for induction of remission in Crohn's disease. SEARCH METHODS: We searched the following databases from inception to November 15, 2015: MEDLINE, EMBASE, the Cochrane Central Register of Controlled Trials, and the Cochrane IBD Group Specialised Register. Study references were also searched for additional trials. There were no language restrictions. SELECTION CRITERIA: Randomised controlled trials (RCTs) that compared glutamine supplementation administered by any route to a placebo, active comparator or no intervention in people with active Crohn's disease were considered for inclusion. DATA COLLECTION AND ANALYSIS: Two authors independently extracted data and assessed the methodological quality of the included studies. The Cochrane risk of bias tool was used to assess methodological quality. The primary outcome measure was clinical or endoscopic remission. Secondary outcomes included intestinal permeability, clinical response, quality of life, growth in children and adverse events. Risk ratios and 95% confidence intervals were calculated for dichotomous outcomes. The overall quality of the evidence supporting the primary outcome was evaluated using the GRADE criteria. MAIN RESULTS: Two small RCTs (total 42 patients) met the inclusion criteria and were included in the review. One study (18 patients) compared four weeks of treatment with a glutamine-enriched polymeric diet (42% amino acid composition) to a standard polymeric diet (4% amino acid composition) with low glutamine content in paediatric patients (< 18 years of age) with active Crohn's disease. The other study (2

Published
2016

26. X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis

Author

Speckmann, C., Lehmberg, K., Albert, M.H., Damgaard, R.B., Fritsch, M., Gyrd-Hansen, M., Rensing-Ehl, A., Vraetz, T., Grimbacher, B., Salzer, U., Fuchs, I., Ufheil, H., Belohradsky, B.H., Hassan, A., Cale, C.M., Elawad, M., Strahm, B., Schibli, S., Lauten, M., Kohl, M., Meerpohl, J.J., Rodeck, B., Kolb, R., Eberl, W., Soerensen, J., von Bernuth, H., Lorenz, M., Schwarz, K., zur Stadt, U., and Ehl, S.

Published
2013
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27. Fruit and vegetable consumption among adults in Saudi Arabia, 2013

Author

Shelley Wilson, Mohammad Al Saeedi, Faisal M Alanazi, Omer Abid, Ali H. Mokdad, Farah Daoud, Elawad M. Ahmed, Mohammad A. AlMazroa, Marwa Tuffaha, Mishal F. Al-Dossary, Charbel El Bcheraoui, Ziad A. Memish, Syed Arif Hussain, Mohammed Basulaiman, Abdullah A. Al Rabeeah, Riad M. Salloum, and Mohamed E Ibrahim

Subjects
Consumption (economics), Nutrition and Dietetics, business.industry, Environmental health, Medicine (miscellaneous), Medicine, Nutrition and Dietary Supplements, business
Abstract

Charbel El Bcheraoui,1 Mohammed Basulaiman,2 Mohammad A AlMazroa,2 Marwa Tuffaha,1 Farah Daoud,1 Shelley Wilson,1 Mohammad Y Al Saeedi,2 Faisal M Alanazi,2 Mohamed E Ibrahim,2 Elawad M Ahmed,2 Syed A Hussain,2 Riad M Salloum,2 Omer Abid,2 Mishal F Al-Dossary,2 Ziad A Memish,2 Abdullah A Al Rabeeah,2 Ali H Mokdad1 1Institute for Health Metrics and Evaluation, University of Washington, Seattle, WA, USA; 2Ministry of Health of the Kingdom of Saudi Arabia, Riyadh, Saudi Arabia Background: Dietary risks were the leading risk factors for death worldwide in 2010. However, current national estimates on fruit and vegetable consumption in the Kingdom of Saudi Arabia (KSA) are nonexistent. We conducted a large household survey to inform the Saudi Ministry of Health (MOH) on a major modifiable risk factor: daily consumption of fruits and vegetables. Methods: The Saudi Health Interview Survey is a national multistage survey of individuals aged 15 years or older. It includes questions on sociodemographic characteristics, tobacco consumption, diet, physical activity, health care utilization, different health-related behaviors, and self-reported chronic conditions. We used a backward elimination multivariate logistic regression model to measure association between the Centers for Disease Control and Prevention (CDC)-recommended daily consumption of fruits and vegetables and different factors. Results: Between April and June 2013, a total of 10,735 participants completed the survey. Overall, 2.6% of Saudis aged 15 years or older met the CDC guidelines for daily consumption of fruits and vegetables. The likelihood of meeting the CDC guidelines increased with age; among women; among persons who graduated from elementary or high school or had a higher education; among residents of Makkah, Al Sharqia, Ha’il, or Jizan; among those who consumed at least two servings of meat or chicken per day; among those who visited a health care facility for a routine medical exam within the last 3 years; and among those who have been diagnosed with hypertension. Conclusion: We have showed that KSA is in dire need of improving the diet of its population. Our findings call for urgent research to understand the reasons for low fruit and vegetable consumption, focusing on price or preference in order to develop and implement culturally and country-relevant solutions to increase the consumption of fruits and vegetables. Keywords: Kingdom of Saudi Arabia, fruits, vegetables, dietary risks, diet

Published
2015
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28. Irrational use of antibiotics with representation of antimicrobial resistance patterns in Sudan: a narrative review

Author

Abdulgader Noun Eltayeb Ahmed, Galil Rawan Khidir Abdel, Elnour Shahd Yahaya Mohamed Nour Serag, Elhusain Tabark Faisal Fadlallah, Osman Tagwa Mahmoud Ahmed, Elawad Maymana Nadir Abdelwahab, Mirghani Islam Mogbil Shaikh Idris, Abdalrahman Ihab B, and Elbager Sahar G.

Subjects
Biotechnology, TP248.13-248.65
Abstract

Increasing bacterial resistance to antibiotics is a growing menace, mainly caused by the rapid genetic modification of bacterial strains and new alternations in behavior favoring their survival. There is no doubt that the irrational use of antibiotics is one of the factors contributing to the rise of this problem, whether that be in hospitals or at a community level. Although the extent of this influence is yet to be learned, it is definite that this is of great impact on the endemic disease patterns in developing areas specifically and on an expanding global issue generally.

Published
2021
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43. X-linked inhibitor of apoptosis (XIAP) deficiency:The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis

Author

Speckmann, C., Lehmberg, K., Albert, M.H., Damgaard, R.B., Fritsch, M., Gyrd-Hansen, M., Rensing-Ehl, A., Vraetz, T., Grimbacher, B., Salzer, U., Fuchs, I., Ufheil, H., Belohradsky, B.H., Hassan, A., Cale, C.M., Elawad, M., Strahm, B., Schibli, S., Lauten, M., Kohl, M., Meerpohl, J.J., Rodeck, B., Kolb, R., Eberl, W., Soerensen, J., von Bernuth, H., Lorenz, M., Schwarz, Kai-Uwe, zur Stadt, U., Ehl, S., Speckmann, C., Lehmberg, K., Albert, M.H., Damgaard, R.B., Fritsch, M., Gyrd-Hansen, M., Rensing-Ehl, A., Vraetz, T., Grimbacher, B., Salzer, U., Fuchs, I., Ufheil, H., Belohradsky, B.H., Hassan, A., Cale, C.M., Elawad, M., Strahm, B., Schibli, S., Lauten, M., Kohl, M., Meerpohl, J.J., Rodeck, B., Kolb, R., Eberl, W., Soerensen, J., von Bernuth, H., Lorenz, M., Schwarz, Kai-Uwe, zur Stadt, U., and Ehl, S.

Abstract

X-linked inhibitor of apoptosis (XIAP) deficiency caused by mutations in BIRC4 was initially described in patients with X-linked lymphoproliferative syndrome (XLP) who had no mutations in SH2D1A. In the initial reports, EBV-associated hemophagocytic lymphohistiocytosis (HLH) was the predominant clinical phenotype. Among 25 symptomatic patients diagnosed with XIAP deficiency, we identified 17 patients who initially presented with manifestations other than HLH. These included Crohn-like bowel disease (n. =. 6), severe infectious mononucleosis (n. =. 4), isolated splenomegaly (n. =. 3), uveitis (n. =. 1), periodic fever (n. =. 1), fistulating skin abscesses (n. =. 1) and severe Giardia enteritis (n. =. 1). Subsequent manifestations included celiac-like disease, antibody deficiency, splenomegaly and partial HLH. Screening by flow cytometry identified 14 of 17 patients in our cohort. However, neither genotype nor protein expression nor results from cell death studies were clearly associated with the clinical phenotype. Only mutation analysis can reliably identify affected patients. XIAP deficiency must be considered in a wide range of clinical presentations.

Published
2013

45. P126 UK inflammatory bowel disease (IBD) audit: inpatient data from paediatric patients with Crohn's disease

Author

Mitton, S.G., primary, Protheroe, A., additional, Auth, M., additional, Beattie, R.M., additional, Charlton, C.P., additional, Elawad, M., additional, Fell, J., additional, Furman, M., additional, Green, M., additional, Jenkins, H., additional, Mitchell, D., additional, Thomas, A., additional, Torrente, F., additional, Arnott, I., additional, Roughton, M., additional, and Russell, R.K., additional

Published
2013
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