Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy characterized by increased cellular adhesiveness. Vaso-occlusion (VOC) is the most prevalent disease complication of SCD that could be altered by genetic factors. L-Selectin and integrin alpha 2 (ITGA2) are 2 adhesion molecules linked to vasculopathy and inflammation. The current study aimed at detecting the prevalence of genetic variants of L-selectin and ITGA2 as possible molecular modulators and novel therapeutic targets in a cohort of pediatric SCD patients. Genotyping was performed by polymerase chain reaction restriction fragment length polymorphism technique for 100 SCD patients and 100 age and gender-matched unrelated healthy controls. The homomutant genotype of ITGA2 C807T was significantly higher in SCD patients compared with controls (P=0.001) and confirmed almost a 3-fold increased risk of moderate and severe attacks of VOC. There are significant adverse effects caused by the polymorphisms of ITGA2, and hence Egyptian SCD patients could benefit from the targeted therapies specifically against ITGA2 to ameliorate the severe course of the disease and improve the quality of life. However, further studies of genotypes and expression levels of these adhesion molecules during the attacks of VOC are recommended.
Idiopathic thrombocytopenic purpura (ITP) is a heterogeneous immunologic disorder. Vitamin D has immune-modulatory effects. The pleiotropic effects of vitamin D are exerted via vitamin D receptor (VDR) and its genetic alterations could influence its functions. In our study, we measured the serum 25-hydroxyvitamin D levels in 98 Pediatric and Adolescent ITP patients, in addition to 100 apparently healthy controls. Genetic polymorphisms of the VDR gene FokI, BsmI, ApaI, and TaqI were tested using specific restriction enzymes for each polymorphism. Vitamin D deficiency in the studied Pediatric age was a dominant factor, but it was found not to be associated with Pediatric ITP. However, patients carrying the FokI CC genotype had statistically higher vitamin D levels compared with those carrying other genotypes (P=0.036). Patients who were carriers of the BsmI G allele had a nearly 2-fold higher risk of ITP (odds ratio: 2.203; 95% confidence interval: 1.467-3.309). Therefore, the BsmI polymorphism of VDR could be considered a molecular risk factor for ITP.
Background Vitamin D is a fat-soluble vitamin that regulates calcium and phosphorous homeostasis to maintain a healthy mineralized skeleton. It can also influence immune responses and has immunomodulatory properties. Vitamin D receptor (VDR) is a nuclear receptor that mediates the activities of the hormonal form of vitamin D. VDR polymorphisms can alter immunity and susceptibility to infections by modulating VDR expression and vitamin D activity. This study aimed to investigate the levels of serum vitamin D as well as four VDR polymorphisms: FokI, BsmI, ApaI, and TaqI in fifty children admitted to intensive care unit (ICU) with a diagnosis of sepsis and one-hundred age- and sex-matched healthy children. Methods Vitamin D levels were measured in serum, in both patients and controls, using an enzyme-linked immunosorbent assay (ELISA) approach. VDR polymorphisms were also studied in both groups using specific restriction enzymes. Results Vitamin D levels were low in both patients and controls. Moreover, serum levels were unaffected by VDR polymorphisms, and their distribution was similar in both groups. Neither the need for mechanical ventilation or inotropic treatment nor the sepsis outcome was impacted by serum vitamin D levels or VDR polymorphisms. Conclusion In children admitted to pediatric ICU, neither vitamin D levels nor VDR polymorphisms were associated with sepsis. Further larger studies including different types of sepsis are recommended.
Background: Coronavirus disease 2019 (COVID-19) infection is considered a serious highly infectious disease caused by severe acute respiratory syndrome coronavirus 2, resulting in more than 6.27 million deaths worldwide. Aim of the study: The study aimed to compare clinical characteristics and laboratory findings of COVID-19 patients with complications and without complications and discriminate the important risk factors for the complications and deaths. Subjects and Methods:This cross-sectional study included 75 confirmed COVID-19 positive patients; out of which 49 were severely-ill cases. Analysis of all patients' clinical and laboratory information on admission including serum ferritin, thrombotic activity (D-dimer), lactate dehydrogenase (LDH), C-reactive protein (CRP), creatinine, aspartate aminotransferase, and alanine aminotransferase were done. Results: Lymphopenia, tachycardia, tachypnea, elevated CRP, D-dimer, serum ferritin, LDH, and decreased SpO 2 were significantly associated with complicated cases (p < .05 for all). By using multivariate logistic regression analysis models, elevated serum ferritin and tachycardia were significantly correlated with the increased odds of complicated COVID-19 cases (odds ratio [confidence interval 95%] = 10. 42 [2.32-46.89] and 8.01 [1.17-55.99]; respectively) (p = .002 and .007, respectively). Conclusion: Lymphocytopenia, D-dimer, LDH, and CRP levels, which were significantly linked to the severity of COVID-19, were the prognostic biomarkers to predict the disease severity.
In 2013, BSOM and UCM in Saudi Arabia entered a partnership, one that would transfer the medical school curriculum from BSOM to UCM. All components of the curriculum including courses, learning materials, instructional methods (peer instruction sessions (PI), team based learning sessions), and examinations were transferred. In fall 2014, UCM initiated its first class of medical students who matriculated into the first year of the BSOM curriculum at UCM. One year 1 course, Molecular Basis of Medicine (MBM) is comprised of molecular biology, biochemistry, metabolism, and human genetics. Our goal was to compare directly final grades of the UCM and BSOM Med 1 students in MBM. Analysis of the grading showed that 92.7% of BSOM students (n=111) passed the course, compared to 91.6% of UCM students (n=70). When broken down by sex, 96.7 % of UCM men (n=30) passed, while 93% of BSOM men (n=57) passed. UCM women (n=40) had 87.8 % pass rate, compared to 92.6 % for BSOM women (n=54).The final course averages were 80.5% +/− 10 for UCM and 84.4% +/− 8.4 for BSOM students, suggesting that there is a similar outcome in the two countries using the same material. Women achieved scores of 78.3% +/− 11 at UCM while at BSOM, they scored at 83.6% +/− 8.7. Men averaged 82.1% +/− 10 at UCM and 85.1% +/− 8.0 at BSOM. However, the two institutions exhibited distinctly different results on exams; UCM students achieved 76.7 %+/− 9 average on exams, while BSOM students scored 82.6% +/− 8.9. Furthermore, UCM men achieved 79.6% +/− 10, while the women scored 74.5% +/− 9 as compared to BSOM men scoring 83.3 %+/− 9 and 81.9% +/− 9 for BSOM women. UCM faculty greatly enhanced student learning by initiating innovative teaching techniques for their students. UCM faculty devised PI based reviews prior to exams, assessed each examination result, and using guidelines established by the Saudi government and Qassim University, made adjustments to exams. The analyzed data to date suggest that there is no major difference in the final student grades for the first iteration of MBM between BSOM and UCM. The only observed difference between BSOM and UCM student achievement is that UCM students are stronger in the active learning portion of MBM and weaker in the examination portion of MBM than BSOM Med 1 students. In order to address this potential problem, the UCM faculty and administration have revamped the premed curriculum at Qassim University/UCM. More data analyses on MBM at both UCM and BSOM in the coming years will provide additional and more quantitative results on this unique partnership. The BSOM‐UCM partnership is best exemplified by the MBM course, in which a team of dedicated team of faculty and administrators implemented a complete, well‐established course from a fully accredited USA medical school in a new medical school in the Kingdom of Saudi Arabia despite being separated by 8000 miles in distance.
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