Search

Systemic Lupus Erythematosus (SLE) is a prolonged inflammatory autoimmune disease, which is characterized by a high titer of serological autoantibodies. Interactions between environmental and genetic factors play a crucial role in the pathogenesis of SLE. Human Leukocyte Antigen (HLA) genes, namely HLA-class II genes, are one of the main candidate genes that increase susceptibility to SLE. The aim of this study was to investigate, for the first time, the association of HLA-DRB1 and HLA-DQB1 genes among Jordanian patients diagnosed with SLE and Lupus Nephritis (LN) using the Polymerase Chain Reaction-Sequence-Specific Primer (PCR-SSP) technique. This study showed that SLE is positively associated with DRB1*0301, DRB1*1101, DRB1*1102 and HLA-DQB1*0601. Furthermore, HLA-DRB1*0301, DRB1*1101, HLA-DRB1*1501 and HLA-DQB1*0601 were found to be linked to SLE patients with LN. In addition, haplotypes HLA-DRB1*0301/DQB1*0201 and HLA-DRB1*1501/DQB1*0601 were found to be linked to SLE and LN. Our findings may serve as possible predictive markers for early screening for LN risk in SLE patients. In light of these results, the role of HLA gene polymorphisms may help in understanding the clinical course, prognosis of the disease and developing better treatment strategies for SLE patients. In addition, it may help in early diagnosis, prevention, intervention and management of the disease.

Background: The twenty first century can be called the genomic era referring to the rapid development of genetics, and the beginning of genomic medicine. An initial step towards genomic medicine is to evaluate the knowledge and attitude towards genetic testing among different populations. The aims of this study were to assess the genetic knowledge and attitude towards genetic testing among the Jordanian population and patients with immune diseases. In addition, we evaluated the association between knowledge, attitude and several demographic factors of the population. Methods: This study was performed using an online questionnaire that was distributed to respondents from different regions of Jordan. Results: A total of 1149 participants were recruited from the Jordanian population. Overall factual genetic knowledge of the participants was good (65.4%), with education level, working or studying in a health-related field and household average monthly income being significant predictors of factual knowledge scores (P = 0.03, P

Excessive health anxiety can lead to significant disorders such as hypochondriasis. In children, assessment of the severity of health anxiety has been performed using the Childhood Illness Attitudes Scales (CIAS); however, no validated Arabic version of this tool exists.This study developed and validated an Arabic version of the CIAS questionnaire in Jordan in 2017 to provide a tool to measure the severity of health anxiety in the Arabic-speaking world.The CIAS was translated from English to Arabic then back-translated by a different translator and the 2 versions were compared before cognitive interviews were conducted. The final version of the questionnaire was circulated to 597 children. Of these, 200 were asked to retake the questionnaire after 10-15 days to evaluate test-retest reliability. Confirmatory factor analysis (CFA) on the 4-factor model suggested by the original questionnaire version was performed. Internal consistency and test-retest reliability were evaluated.The CFA showed good fit (goodness of fit index = 0.92) with the 4-factor model of fears, help seeking, treatment experience, and symptom effects. Test-retest reliability was high and the model had good discriminant validity and internal consistency.The Arabic version of the CIAS provides a suitable tool to investigate the prevalence and severity of childhood anxiety in the Middle East.التحقق من موثوقية النسخة العربية لمقاييس اتجاهات أمراض الطفولة.وليد الكريم، جوناثان لينج، واسان جرار.يمكن أن يؤدي القلق الصحي المفرط إلى اضطرابات كبيرة مثل التوهم المرضي. أجري، في الأطفال، تقييم لشدة القلق الصحي بمقاييس اتجاهات أمراض الطفولة؛ مع أنه لا تتوفر نسخة عربية مصدق عليها لهذه الأداة.هدفت هذه الدراسة إلى إعداد نسخة عربية لاستبيان حول مقاييس اتجاهات أمراض الطفولة في الأردن في عام 2017، وأثبتت موثوقيتها كأداة لقياس شدة القلق الصحي في العالم العربي.تُرْجِمَ استبيان مقاييس اتجاهات أمراض الطفولة من الإنجليزية إلى العربية، ثم أعيدت ترجمتها من مترجم مختلف وقورنت النسختان قبل إجراء المقابلات المعرفية. وعُمْمِت الصيغة النهائية للاستبيان على 597 طفلً. وطلب من 200 طفل منهم إعادة الاستبيان بعد 15-10 يومًا لتقييم موثوقية الاختبار- وإعادة الاختبار. أُجْرِي تحليل عامل التأكيد على نموذج العوامل الأربعة المقترحة في الإصدار الأصلي للاستبيان. قُيّم الاتساق الداخلي وموثوقية الاختبار - وإعادة الاختبار.أظهر تحليل عامل التأكيد توافقًا جيدًا (مؤشر جودة الملاءمة = 0.92) مع نموذج مكون من أربعة عوامل من المخاوف، والمساعدة في البحث، وتجربة العلاج، وتأثيرات الأعراض. كانت موثوقية الاختبار - وإعادة الاختبار عالية وكان للنموذج صلاحية تمييز جيدة وتناسق داخلي.تعد النسخة العربية من «استبيان مقاييس اتجاهات أمراض الطفولة» أداة مناسبة لاستقصاء انتشار قلق الطفولة وشدتها في الشرق الأوسط.Validation de la version arabe de l’échelle d’attitude à l’égard de la maladie chez l’enfant.Une anxiété excessive en matière de santé peut entraîner des troubles importants tels que l’hypocondrie. Chez l’enfant, l’évaluation de la gravité de l’anxiété liée à la santé a été réalisée à l’aide de l’échelle d’attitude à l’égard de la maladie chez l’enfant ; cependant, aucune version arabe validée de cet outil n’existe.La présente étude a mis au point et a validé une version arabe du questionnaire des échelles d’attitude à l’égard de la maladie chez l’enfant en Jordanie en 2017 afin de fournir un outil permettant de mesurer la gravité de l’anxiété liée à la santé dans le monde arabophone.Le questionnaire susmentionné a été traduit de l’anglais vers l’arabe. il a ensuite fait l’objet d’une rétro-traduction par un autre traducteur et les deux versions ont été comparées avant la réalisation des entretiens cognitifs. La version finale du questionnaire a été distribuée à 597 enfants. Parmi ceux-ci, 200 ont été invités à répondre de nouveau au questionnaire après 10 à 15 jours pour évaluer la fiabilité test-retest. Une analyse factorielle confirmatoire sur le modèle à quatre facteurs basé sur la version originale du questionnaire a été réalisée. La cohérence interne et la fidélité test-retest ont été évaluées.L’analyse factorielle confirmatoire a montré un bon ajustement (indice d’ajustement = 0,92) avec le modèle à quatre facteurs des peurs, de la recherche d’aide, de l’expérience du traitement et des effets des symptômes. La fiabilité test-retest était élevée et le modèle avait une bonne validité discriminante et une bonne cohérence interne.La version arabe de l’Échelle d’attitude à l’égard de la maladie chez l’enfant fournit un outil approprié pour enquêter sur la prévalence et la gravité de l’anxiété infantile au Moyen-Orient.

The present study aimed to identify the NAT2 haplotypes, linkage disequilibrium, and novel NAT2 genetic variants among Jordanian population. We isolated the genomic DNA from 68 healthy, Arab, unrelated Jordanian volunteers to amplify the protein-coding region of NAT2 gene by polymerase chain reaction (PCR). Then, the amplified PCR products were sequenced using Applied Biosystems Model (ABI3730x1). It is found that the allele frequencies of known NAT2 genetic variants 191G>A, 282C>T, 341T>C, 481C>T, 590G>A, and 803A>G were 0.7, 26.5, 48.5, 35.3, 30.9, and 32.4%, respectively. The NAT2 allele frequencies were generally similar to those of white Europeans but different from those of Asian and African populations. The most common NAT2 haplotype was NAT2 *5B with a frequency of 29.3%. According to the NAT2 haplotype frequencies, 72% (95% confidence interval 61.4–82.7%) of the volunteers were slow encoding NAT2 haplotype acetylators. The NAT2 *5 represented variants 341T>C and 481C>T were in strong but not complete linkage disequilibrium (D′ = 0.8, r 2 = 0.63). In addition, this study found a novel nonsynonymous NAT2 436G>A genetic variant with low frequency (0.7%). However, this novel variant was predicted to be tolerated and not harmful to the NAT2 protein, using in silico prediction tools. It is concluded that the frequency of slow encoding NAT2 haplotype was high among Jordanian volunteers, which may have effects on drug responses and susceptibility to some diseases, such as cancers. Keywords: acetylation; NAT2 gene; genetic variants; Jordanians

Cranial motor nerves in vertebrates are comprised of the three principal subtypes of branchial, visceral, and somatic motor neurons, which develop in typical patterns along the anteroposterior and dorsoventral axes of hindbrain. Here we demonstrate that the formation of branchial and visceral motor neurons critically depends on the transcription factors Nkx2.2 and Nkx2.9, which together determine the cell fate of neuronal progenitor cells. Disruption of both genes in mouse embryos results in complete loss of the vagal and spinal accessory motor nerves, and partial loss of the facial and glossopharyngeal motor nerves, while the purely somatic hypoglossal and abducens motor nerves are not diminished. Cell lineage analysis in a genetically marked mouse line reveals that alterations of cranial nerves in Nkx2.2; Nkx2.9 double-deficient mouse embryos result from changes of cell fate in neuronal progenitor cells. As a consequence progenitors of branchiovisceral motor neurons in the ventral p3 domain of hindbrain are transformed to somatic motor neurons, which use ventral exit points to send axon trajectories to their targets. Cell fate transformation is limited to the caudal hindbrain, as the trigeminal nerve is not affected in double-mutant embryos suggesting that Nkx2.2 and Nkx2.9 proteins play no role in the development of branchiovisceral motor neurons in hindbrain rostral to rhombomere 4.