Research Title: 2. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.

Author: Tawfiq Froukh, Published Year: 2022

American Journal of Human Genetics, 109

Faculty: Science

Abstract: The leucine-rich glioma-inactivated (LGI) family consists of four highly conserved paralogous genes, LGI1-4, that are highly expressed in mammalian central and/or peripheral nervous systems. LGI1 antibodies are detected in subjects with autoimmune limbic encephalitis and peripheral nerve hyperexcitability syndromes (PNHSs) such as Isaacs and Morvan syndromes. Pathogenic variations of LGI1 and LGI4 are associated with neurological disorders as disease traits including familial temporal lobe epilepsy and neurogenic arthrogryposis multiplex congenita 1 with myelin defects, respectively. No human disease has been reported associated with either LGI2 or LGI3. We implemented exome sequencing and family-based genomics to identify individuals with deleterious variants in LGI3 and utilized GeneMatcher to connect practitioners and researchers worldwide to investigate the clinical and electrophysiological phenotype in affected subjects. We also generated Lgi3-null mice and performed peripheral nerve dissection and immunohistochemistry to examine the juxtaparanode LGI3 microarchitecture. As a result, we identified 16 individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3. Deep phenotypic characterization showed LGI3 LoF causes a potentially clinically recognizable PNHS trait characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability. Lgi3-null mice showed reduced and mis-localized Kv1 channel complexes in myelinated peripheral axons. Our data demonstrate bi-allelic LoF variants in LGI3 cause a clinically distinguishable disease trait of PNHS, most likely caused by disturbed Kv1 channel distribution in the absence of LGI3.

Keywords: KCNA; LGI3; bi-allelic variation; facial myokymia; gene and genome instability; genomic rearrangement; multi-exonic CNV; neurobiology of disease; peripheral nerve hyperexcitability syndromes; potassium channel complexes.

Research Title: Human COQ4 Deficiency: Delineating the clinical, metabolic and neuroimaging phenotypes

Author: Tawfiq Froukh, Published Year: 2022

Faculty: Science

Abstract: Background: Human coenzyme Q4 (COQ4) is essential for coenzyme Q10 (CoQ10) biosynthesis. Pathogenic variants in COQ4 cause childhood-onset neurodegeneration. We aimed to delineate the clinical spectrum and the cellular consequences of COQ4 deficiency. Methods: Clinical course and neuroradiological findings in a large cohort of paediatric patients with COQ4 deficiency were analysed. Functional studies in patient-derived cell lines were performed. Results: We characterised 44 individuals from 36 families with COQ4 deficiency (16 newly described). A total of 23 different variants were identified, including four novel variants in COQ4. Correlation analyses of clinical and neuroimaging findings revealed three disease patterns: type 1: early-onset phenotype with neonatal brain anomalies and epileptic encephalopathy; type 2: intermediate phenotype with distinct stroke-like lesions; and type 3: moderate phenotype with non-specific brain pathology and a stable disease course. The functional relevance of COQ4 variants was supported by in vitro studies using patient-derived fibroblast lines. Experiments revealed significantly decreased COQ4 protein levels, reduced levels of cellular CoQ10 and elevated levels of the metabolic intermediate 6-demethoxyubiquinone. Conclusion: Our study describes the heterogeneous clinical presentation of COQ4 deficiency and identifies phenotypic subtypes. Cell-based studies support the pathogenic characteristics of COQ4 variants. Due to the insufficient clinical response to oral CoQ10 supplementation, alternative treatment strategies are warranted.

Keywords: early diagnosis; epilepsy; nervous system diseases; pediatrics.

Research Title: Dual stimuli-responsive delivery system for self-regulated colon-targeted delivery of poorly water-soluble drugs

Author: Mohammad Bayan, Published Year: 2024

Faculty: Pharmacy

Abstract: Inflammatory bowel disease (IBD) are chronic inflammatory conditions which cause significant patient morbidity. Local drug delivery to the colon can improve treatment efficacy and reduce side effects associated with IBD treatment. Smart drug delivery systems are designed to regulate the release of therapeutic agents at the desired site of action. pH-responsive drug carriers have been previously utilised for improved oral drug delivery beyond stomach harsh conditions. Additionally, the colon possesses a diverse microbiome secreting bioactive molecules e.g., enzymes, that can be exploited for targeted drug delivery. We herein synthesised and characterised a 2-hydroxyethyl methacrylate and methacrylic acid copolymer, crosslinked with an azobenzyl crosslinker, that displayed pH- and enzyme-responsive properties. The swelling and drug release from hydrogel were analysed in pH 1.2, 6.5 and 7.4 buffers, and in the presence of rat caecal matter using metronidazole and mesalamine as model BCS Class I and IV drugs, respectively. Swelling studies displayed pH-responsive swelling behaviour, where swelling was maximum at pH 7.4 and minimum at pH 1.2 (69% versus 32%). Consequently, drug release was limited in gastric and small intestinal conditions but increased significantly when exposed to colonic conditions containing caecal matter. This system displays promising capacity for achieving colon-targeted drug delivery with enhanced dissolution of poorly water-soluble drugs for local treatment of IBD and other colon-targeted therapies.

Keywords: Hydrogels; Azobenzene; Colon-targeted; Crohn's disease; Metronidazole; Mesalamine.

Research Title: Psychometric properties of an Arabic translation of the chronic pain acceptance questionnaire (CPAQ) in a sample of patients with chronic pain

Author: Fuad Abdul Rahman Taha Abdulla, Published Year: 2023

Disability and Rehabilitation, https://doi.org/10.1

Faculty: Allied Medical Sciences

Abstract: ABSTRACT Purpose: Chronic pain (CP) acceptance is a major factor in determining the well-being of patients with chronic pain. The chronic pain acceptance questionnaire (CPAQ) was translated and validated into Arabic (CPAQ-Ar). Methods: 244 patients with CP completed the CPAQ-Ar, the Beck Depression Inventory-II (BDI-II), the short form health survey (SF-36), the Pain Catastrophizing Scale (PCS), the Pittsburgh Sleep Quality Index (PSQI), the Modified Fatigue Impact Scale (MFIS), and the Depression Anxiety Stress Scale 21 (DASS-21). 110 patients completed the CPAQ-Ar twice separated by two weeks to investigate test-retest reliability. Results: Cronbach’s α was 0.902 while the intraclass correlation coefficient (ICC) was 0.917. The standard error measurement (SEM) was seven points while the minimal detectable change with 95% confidence interval (MDC95) was seventeen points. The CPAQ-Ar showed moderate to high correlations with the PCS, the BDI-II, the SF-36, the MFIS, the PSQI, and the DASS-21 indicating a good concurrent validity. Exploratory factor analysis confirmed that the CPAQ-Ar consists of two subscales. Better pain acceptance associated with male gender, older people, employed participants, low pain intensity, and single pain site. Conclusions: The CPAQ-Ar is a valid and reliable tool for the measurement of pain acceptance in Arabic speaking patients with CP

Keywords: Validity; reliability; chronic pain acceptance questionnaire (CPAQ-20); Arabic; minimal detectable change; pain; acceptance associated factors

Research Title: السعي نحو العدالة الاجتماعية والمواطنة العالمية كمنهج فكري وطموح عالمي للإنسانية

Author: Amani Ghazi Jarrar, Published Year: 2021

Faculty: Arts

Abstract: في عالمنا اليوم نلمس الكثير من الصراعات والأزمات المتنامية نحو هلاك البشرية اذا ما كتب لها الاستمرار. فأينما نظرنا نجد صراعات مصيرية بين الشمال والجنوب والشرق والغرب. وما من قادر على حل المنازعات السياسية والازمات الاقتصادية المتنازع عليها والكوارث البيئية والاجتماعية، الا وان يلجأ الى حلول العامل السحري المنقذ الأعظم في هذه المعادلة، ألا وهو احلال مبادىء الإنسانية ، فمن آمن بوحدتها على الرغم من تعدد الأطراف والجهات والمتنازعين، لا يجد سوى روح الانسانية لتبقى واحدة في الجوهر مهما اختلفت الأعراق والمذاهب والطوائف والايديولوجيات والمصالح. قديما نادى كونفوشيوس بمبدأ السلام الداخلي، وتعاقب العديد من المفكرين في محاولة لإبراز أثر احلال السلام في حل الكثير من القضايا والمنازعات. وفي طرحي هذا أحاول البناء على ما بناه الأوائل من دعاة السلام ،من خلال إضفاء صفة للمواطنة العالمية المنشودة باعتبارها الحل السحري العصري لأزمات وصراعات الحاضر والمستقبل، ألا وهي المتمثلة في مبدأ محبة الإنسان والآخر والكون باعتباره وطنا لكل مواطن بالمعنى العالمي https://burhaninstitute.org/?p=930

Keywords: العدالة الاجتماعية ،المواطنة العالمية ،منهج فكري، الإنسانية

Research Title: المواطنة العالمية والتربية من أجل السلام .. كما يجب أن تكون

Author: Amani Ghazi Jarrar, Published Year: 2021

Faculty: Arts

Abstract: السلام هدف إنساني وغاية نبيلة تسعى الإنسانية لتحقيقها على امتداد تاريخها الحضاري، وقد ازدادت الدعوة للسلام والعمل على إرساء دعائمه وتعميمه في العصر الحديث كأداة تفاهم تجمع شعوب العالم حول هذا الهدف. لقد بدأ الاهتمام بدراسات السلام كميدان أكاديمي في الجامعات العالمية منذ الخمسينات، وكان التركيز في البداية على السلام في مواجهة العنف المباشر، كما هو الحال في الاعتداء والتعذيب والاضطهاد والحروب، ليتطور فيما بعد إلى تناول العنف غير المباشر، أي ما يعانيه الناس نتيجة للنظم الاجتماعية والسياسية والاقتصادية التي تؤدي إلى الموت أو الانتقاص من آدمية الإنسان وانتهاك حقوقه مثل : التمييز العنصري والتعرض للجوع وإنكار حقوق الإنسان. والتربية دعوة للحياة، والحياة في جوهرها هي السلام مع الذات ومع الآخرين ومع البيئة المادية، ومن هنا فإن التربية من أجل السلام تتراوح في مداها من السلام بين الدول والشعوب إلى الأفراد داخل الأسرة أو الجماعة وأخيراً إلى الإنسان نفسه. https://burhaninstitute.org/?p=1050

Keywords: المواطنة العالمية ،التربية ، السلام

Research Title: TOWARDS SOCIAL JUSTICE AND GLOBAL CITIZENSHIP AS AN INTELLECTUAL APPROACH AND GLOBAL ASPIRATION FOR HUMANITY (IN A STRIFE-RIDDEN WORLD)

Author: Amani Ghazi Jarrar, Published Year: 2021

Faculty: Arts

Abstract: In today’s world, we encounter a great number of exacerbating conflicts and crises that may even lead to annihilation of human life on this planet, if they are allowed to persist. Into whatever direction we turn, we witness raging fateful North/South and East/West struggles. However, nothing would enable us to overcome such ongoing political conflicts, economic crises, environmental catastrophes or social afflictions other than using a great panacea and supreme instrument of this equation – that is, to put the necessary human principles in place. Whosoever believes in the oneness of humanity – irrespective of the multiplicity and diversity of its parties, regions, and warring factions – finds nothing at the core, save that essentially indivisible human spirit, notwithstanding the diversity of ethnicity, creeds, denominations, ideologies, and interests. file:///C:/Users/aj8in/Desktop/Towards-Social-Justice-Global-Citizenship-dr-Amani-Jarrar-1 (1).pdf

Keywords: SOCIAL JUSTICE , GLOBAL CITIZENSHIP , GLOBAL , HUMANITY

Research Title: Pathways to Mainstream and Advance the Concept of Global Citizenship Education in the Arab World

Author: Amani Ghazi Jarrar, Published Year: 2022

Global Citizenship Education, 3

Faculty: Arts

Abstract: The importance of this study is manifested by events that have highlighted deteriorating human conditions, particularly deteriorating, and in particular what we are witnessing in third world countries, where the Arab world, which is facing a lot of setbacks on several levels. The study is important in terms of humanitarian efforts strive to achieve the global foundations of education, particularly in light of the challenges and changes taking place in the Arab region and bottlenecks. As the topic of global citizenship education subject rises at the political level of the Muslim world, the challenging question that arises rises is: Are the concepts of global citizenship education viable and practical in the Arab world?

Keywords: Global Citizenship Education , Arab World

Research Title: Effectiveness of Blended Learning Strategies in Jordanian Universities: Faculty Members’ Point of View

Author: Amani Ghazi Jarrar, Published Year: 2023

Journal of Education and Practice, 14

Faculty: Arts

Abstract: This study aimed at analyzing the effectiveness of blended learning strategies in Jordanian Universities from the faculty members’ point of view. For that, the researcher adopted the descriptive-analytical statistical methodology by applying the study tool (questionnaire) to a sample size of (40) faculty members from two Jordanian Universities (Al-Zaytoonah University and Mutah University). And after calculating the relative weights of the arithmetic means, the results showed differences in the levels of acceptance of the effect of the study variables within its three pillars (University responsibilities, technical requirements, and learners’ responsibilities) on the effectiveness of blended learning strategies in the Jordanian Universities from the faculty members’ point of view. Results also show that all the study variables within the three parts (University responsibilities, technical requirements, and learners’ responsibilities) have statistically significant influences at the level of significance (α≤0.05) on the effectiveness of blended learning strategies in the Jordanian Universities from the faculty members’ point of view.

Keywords: Blended Learning; Universities’ responsibilities; Learners’ responsibilities; Learning strategies; Jordanian Universities. DOI: 10.7176/JEP/14-6-06

Research Title: قوانين الانتخابات والاحزاب السياسية: من منظور المساواة بين الجنسين التقرير الوطني: المملكة الاردنية الهاشمية

Author: Amani Ghazi Jarrar, Published Year: 2023

Faculty: Arts

Abstract: يقدم التقرير قراءة وتحليل لواقع الانتخابات والمشاركة السياسية في الاردن من منظور الجندر https://arabwomenorg.org/MediaFiles/conferences/9th/Reports/elections_laws/Jordan.pdf

Keywords: القوانين،التشريعات ،المرأة ،المنظور الجندري