Severe vitamin D deficiency is not related to SARS-CoV-2 infection but may increase mortality risk in hospitalized adults: a retrospective case-control study in an Arab Gulf country.

PURPOSE: As the world continues to cautiously navigate its way through the coronavirus disease 2019 (COVID-19) pandemic, several breakthroughs in therapies and vaccines are currently being developed and scrutinized. Consequently, alternative therapies for severe acute respiratory coronavirus 2 (SARS-CoV-2) prevention, such as vitamin D supplementation, while hypothetically promising, require substantial evidence from countries affected by COVID-19. The present retrospective case-control study aims to identify differences in vitamin D status and clinical characteristics of hospitalized patients screened for SARS-CoV-2, and determine associations of vitamin D levels with increased COVID-19 risk and mortality. METHODS: A total of 222 [SARS-CoV-2 (+) N = 150 (97 males; 53 females); SARS-CoV-2 (-) N = 72 (38 males, 34 females)] out of 550 hospitalized adult patients screened for SARS-CoV-2 and admitted at King Saud University Medical City-King Khalid University Hospital (KSUMC-KKUH) in Riyadh, Saudi Arabia from May-July 2020 were included. Clinical, radiologic and serologic data, including 25(OH)D levels were analyzed. RESULTS: Vitamin D deficiency (25(OH)D < 50 nmol/l) was present in 75% of all patients. Serum 25(OH)D levels were significantly lower among SARS-CoV-2 (+) than SARS-CoV-2 (-) patients after adjusting for age, sex and body mass index (BMI) (35.8 ± 1.5 nmol/l vs. 42.5 ± 3.0 nmol/l; p = 0.037). Multivariate regression analysis revealed that significant predictors for SARS-CoV-2 include age > 60 years and pre-existing conditions (p < 0.05). Statistically significant predictors for mortality adjusted for covariates include male sex [Odds ratio, OR 3.3 (95% confidence interval, CI 1.2-9.2); p = 0.02], chronic kidney disease [OR 3.5 (95% CI 1.4-8.7); p = 0.008] and severe 25(OH)D deficiency (< 12.5 nmol/l), but at borderline significance [OR 4.9 (95% CI (0.9-25.8); p = 0.06]. CONCLUSION: In hospital settings, 25(OH)D deficiency is not associated with SARS-CoV-2 infection, but may increase risk for mortality in severely deficient cases. Clinical trials are warranted to determine whether vitamin D status correction provides protective effects against worse COVID-19 outcomes.

Alterations in serum levels of copper, zinc, and selenium among children with sickle cell anemia

Background/aim: Oxidative stress contributes to pathophysiological dysfunction in sickle cell anemia (SCA). Copper (Cu) is a prooxidant, whereas zinc (Zn) and selenium (Se) are antioxidant trace elements. This study investigates the serum levels of Cu, Zn, and Se among children with SCA. Materials and methods: This cross-sectional study was performed at King Khalid University Hospital, Riyadh. Thirty-three children with SCA in steady state and 33 age- and sex-matched normal healthy children were included in the study. Cu, Zn, and Se levels were measured by inductively coupled plasma-mass spectrometry (ICP-MS) instrument. Results: The median serum Cu levels among SCA patients (1.3 µg/mL) were higher than those of the controls (0.88 µg/mL; P < 0.0001). Zn (0.61 µg/mL) and Se (74 ng/mL) levels among SCA patients, however, were significantly lower than those of the controls (0.94 µg/mL; P < 0.0001) and (91.2 ng/mL; P < 0.0001), respectively. The Cu/Zn ratio among SCA patients (1.92) was higher than that of the controls (0.98). Conclusion: Decreased blood levels of antioxidant trace elements may contribute to the pathophysiology in SCA by promoting oxidative stress. The monitoring of trace element levels in SCA appears to be vital for decreasing morbidity associated with the disorder.

Intrapulmonary rFVIIa for life threatening pulmonary hemorrhage in a case of relapsing acute lymphoblastic leukemia and platelet refractoriness.

Platelet refractoriness may lead to life-threatening gastro-intestinal, intracranial or pulmonary hemorrhage that is difficult to control despite massive platelet and red cell transfusion, antifibrinolytic agents, high dose corticosteroids, immunoglobulin and intravenous (I.V.) recombinant activated factor VII (rFVIIa). In cases with pulmonary hemorrhage, intrapulmonary administration of rFVIIa may be more effective in non-responsive cases. We report a 51-year-old man with relapsing acute lymphoblastic leukemia (ALL) and platelet refractoriness, who suffered a life-threatening pulmonary hemorrhage that was refractory to massive platelet transfusion, tranexamic acid, high dose corticosteroids, immunoglobulin and intravenous rFVIIa, but responded immediately to a single intrapulmonary dose of rFVIIa that was inhaled with a jet nebulizer assistance through the endotracheal tube.

Autoantibody detection: prevailing practices at a tertiary care hospital in Riyadh.

BACKGROUND: Anti-nuclear antibody (ANA) test as the first level investigation for detection of auto-immune rheumatic disease has been recommended in a number of international guidelines. This study was performed to evaluate the local practice and trends of auto-antibody laboratory requests. METHODS: Data were collected from 249 initial laboratory requests for first level auto-antibody detection between April 2012 and April 2013 in the Immunology Unit at King Khalid University Hospital, Riyadh. This group of patients included 151 females and 98 males (mean age 40.1 +/- 21; range 4-85 years). RESULTS: Of the total requests, ANA as a single first level investigation was requested by only 32 (13%) clinicians whereas the rest of the investigations included simultaneous testing of ANA and second level extractable nuclear antigen (ENA) auto-antibody tests. Anti-double stranded DNA (anti-dsDNA) antibody was simultaneously tested with ANA in 158 patients as first level test where both the tests were positive in 44 (27.8%) patients and in 24 (15.1%) patients a negative ANA test was associated with a positive anti-dsDNA antibody test. Rheumatoid factor (RF) tested positive in 04/53 (7.5%), anti-neutrophil cytoplasmic antibody (ANCA) in 01/48 (2%) and SS-A and SS-B in 03/37 (8.1%) requests as first level tests with ANA. CONCLUSIONS: Using second level auto-antibody tests in conjunction with ANA as the first line investigation does not appear to be a cost effective approach, highlighting the importance of adherence to the guidelines. ANA negative and anti-dsDNA positive group of patients requires further assessment in a large scale study.

Are We Overusing Coagulation Studies in the Emergency Department?

Methods: This retrospective observational study, conducted in the ED of King Saud University Medical City (KSUMC) in Riyadh, Saudi Arabia, during July and August of 2021(2 months) examined coagulation profile requests. Patients' demographic data (age and gender), medical and clinical history (presenting complaint, comorbidities, and diagnosis), the use of antiplatelets or anticoagulant agents and laboratory values for PT, APTT, and INR were collected. We calculated the total cost of unnecessary coagulation profile testing based on the independent assessment of two ED consultants. Results: Of 1,754 patients included in the study, 811 (46.2%) were males and 943 (53.8%) were females, with a mean age of 42.1 ± 18.5 years. There were 29 (1.7%) patients with liver disease and 21 (1.2%) patients had thromboembolic disease. The majority of the patients' results were within normal levels of PT (n = 1,409, 80.3%), APTT (n = 1,262, 71.9%), and INR (n = 1,711, 97.4%). Evidence of active bleeding was detected in 29 patients (1.7%). Among patients with bleeding only one had an abnormal INR (3.01) and was on warfarin. Forty-six (2.6%) patients had elevated INR level. Cohen's kappa between the two consultants was recorded at 0.681 (substantial agreement) in their assessment of the appropriateness of coagulation tests requests and both consultants believed that 1,051 tests (59.9%) were not indicated and were unnecessary. The expected annual cost saving if the unnecessary tests were removed would be around SAR 1,897,200 (approximately US$ 503,232) which is about SAR 180000 (US$ 48000)/1000 patients. Conclusion: This study showed that coagulation tests are overused in the ED. More than half of coagulation profile tests in our study population were deemed unnecessary and associated with significant cost. Targeted testing based on specific patient presentation and medical history can guide physicians in wisely choosing who needs coagulation studies.

Fusing Peptide Epitopes for Advanced Multiplex Serological Testing for SARS-CoV-2 Antibody Detection.

The tragic COVID-19 pandemic, which has seen a total of 655 million cases worldwide and a death toll of over 6.6 million seems finally tailing off. Even so, new variants of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) continue to arise, the severity of which cannot be predicted in advance. This is concerning for the maintenance and stability of public health, since immune evasion and increased transmissibility may arise. Therefore, it is crucial to continue monitoring antibody responses to SARS-CoV-2 in the general population. As a complement to polymerase chain reaction tests, multiplex immunoassays are elegant tools that use individual protein or peptide antigens simultaneously to provide a high level of sensitivity and specificity. To further improve these aspects of SARS-CoV-2 antibody detection, as well as accuracy, we have developed an advanced serological peptide-based multiplex assay using antigen-fused peptide epitopes derived from both the spike and the nucleocapsid proteins. The significance of the epitopes selected for antibody detection has been verified by in silico molecular docking simulations between the peptide epitopes and reported SARS-CoV-2 antibodies. Peptides can be more easily and quickly modified and synthesized than full length proteins and can, therefore, be used in a more cost-effective manner. Three different fusion-epitope peptides (FEPs) were synthesized and tested by enzyme-linked immunosorbent assay (ELISA). A total of 145 blood serum samples were used, compromising 110 COVID-19 serum samples from COVID-19 patients and 35 negative control serum samples taken from COVID-19-free individuals before the outbreak. Interestingly, our data demonstrate that the sensitivity, specificity, and accuracy of the results for the FEP antigens are higher than for single peptide epitopes or mixtures of single peptide epitopes. Our FEP concept can be applied to different multiplex immunoassays testing not only for SARS-CoV-2 but also for various other pathogens. A significantly improved peptide-based serological assay may support the development of commercial point-of-care tests, such as lateral-flow-assays.

Association of angiotensin converting enzyme gene insertion/deletion polymorphism and familial hypercholesterolemia in the Saudi population.

BACKGROUND: The study of the association between genotype and phenotype is of great importance for the prediction of multiple diseases and pathophysiological conditions. The relationship between angiotensin converting enzyme (ACE) Insertion/Deletion (I/D) polymorphism and Familial Hypercholesterolemia (FH) has been not fully investigated in all the ethnicities. In this study we sought to determine the frequency of I/D polymorphism genotypes of ACE gene in Saudi patients with FH. RESULTS: This is a case-control study carried out purely in Saudi population. Genomic DNA was isolated from 128 subjects who have participated in this study. ACE gene I/D polymorphism was analyzed by polymerase chain reaction in 64 FH cases and 64 healthy controls. There was no statistically significant difference between the groups with respect to genotype distribution. Furthermore, we did not find any significant difference in the frequency of ACE I/D polymorphism in FH subjects when stratified by gender (p = 0.43). CONCLUSION: Our data suggest that ACE gene I/D polymorphism examined in this study has no role in predicting the occurrence and diagnosis of FH.

Introducing integrated laboratory classes in a PBL curriculum: impact on student's learning and satisfaction.

BACKGROUND: With the introduction of integrated problem-based learning (PBL) program in the medical curriculum, there is a need to create laboratory classes that suit students' learning needs and the changes introduced to the curriculum. This paper outlines the development and implementation of four integrated laboratory classes (ILCs) at King Saud University College of Medicine. It also examines whether core concepts addressed in these classes were learned and retained and how the students perceived the ILCs. METHODS: ILCs are based on enhancing enquiry-based learning, and encouraging students to work on tasks in small groups (apply and integrate knowledge from biochemistry, pathology and microbiology) and conduct a laboratory procedure (practical part). In two of these ILCs, a pretest comprising 15 multiple-choice questions were administrated at the start of the class and an identical posttest was administrated at the end of these classes. Performance of the students in the Objective Structured Practical Examination (OSPE) at the end of the blocks was also evaluated. Students' perceptions were evaluated using a questionnaire completed at the end of each class. RESULTS: A total of 247, 252, 238, and 244 students participated in practical classes covering cerebrospinal fluid infection, small intestine, liver function tests and adrenal gland function, respectively. Students got higher scores in posttests compared to pre-test scores in two classes (12.68 ± 2.03 vs 6.58 ± 3.39 and 13.02 ± 2.03 vs 7.43 ± 2.68, respectively). Paired t-test showed that the difference was significant (P < 0.001) in both tests. The mean scores of students in stations dealing with ILCs at the end of the block examinations were not significantly different from the mean scores for other stations not related to ILCs. The questionnaire indicated that most students expressed positive attitude towards working on tasks and applying knowledge learnt. Students also felt that conducting laboratory procedures and interpreting laboratory findings were valuable to their learning. CONCLUSIONS: Given the increase in the posttest scores (short-term retention) and the satisfactory performance of students at the end of block examinations (long-term retention) together with the students' satisfaction, the study suggests that the core concepts addressed in these classes were learned and retained.

Frequency of Rh and K antigens in blood donors in Riyadh.

OBJECTIVES: Investigate the prevalence of Rh and the K antigens and their phenotypes in the red blood cells of blood donors in Riyadh, Saudi Arabia. METHODS: This is a retrospective study. The five principal Rh antigens (D, C, c, E, e) and the Kell antigen from the Kell blood group were tested in 4,675 random samples collected from four blood bank centers in Riyadh. Data were collected for seven weeks (from January 4, 2019 to February 28, 2019). Antigens were tested using the TANGO Optimo system. RESULTS: We found that approximately 86% of the donors had the D antigen, 66% had C, 78% had c, 26% had E, 97% had e and 14% had K. The most common Rh phenotypes were R1r (31%) and R1R1 (22%). CONCLUSION: The differences in the results between the study population and other populations, such as Caucasian, Indian and African populations indicate the importance of establishing a population-specific database.

Use of bile acids as potential markers of liver dysfunction in humans: A systematic review.

OBJECTIVE: This study aimed to determine the effectiveness of using total, individual serum, or urinary bile acids (BA) as potential markers of liver dysfunction. METHODS: We searched the PubMed and Web of Science databases using the following keywords- "serum bile acids," "liver dysfunction," "liver injury," "liver disease," "traditional liver function tests," "Chronic liver disease," "acute liver injury". The search was complemented by manual screening of the list of references for relevant articles. We selected only English-language manuscripts for adult patients based on predetermined inclusion and exclusion criteria. Animal studies and studies on neonates and children were not included. OUTCOME MEASURES: Changes in BA concentrations or ratios at or prior to changes in liver function tests. RESULTS: A total of 547 studies were identified, of which 28 were included after reading the entire manuscript. These studies included 1630 patients and 836 controls published between 1990 and 2017. The methods used in BA assays varied significantly, and the studies did not agree. on specific individual BA or BA ratios as biomarkers of specific liver injury or dysfunction. Except for the prognostic value of BA in intrahepatic cholestasis of pregnancy (ICP), studies have failed to provide evidence for BA as a liver biomarker. CONCLUSIONS: Despite the research conducted on BA for over 27 years, there are inconsistencies in the reported results and a lack of solid evidence to support the use of individual BA or BA ratios as biomarkers of liver injury. Adequately conducted studies needed to resolve this limitation in the literature.

Clinical and biochemical characteristics and outcomes of suspected COVID-19 hospitalized patients: RT-PCR swab positive and negative comparison.

BACKGROUND: COVID-19 is diagnosed using RT-PCR assays of samples from nasal and oropharyngeal swabs. People with negative RT-PCR often presented with clinical manifestations of COVID-19. The data on such patients are lacking. The present study aims to characterize the patients who were suspected COVID-19 cases and tested negative in RT-PCR compared to patients who had been tested RT-PCR positive. METHODS: This is a retrospective, observational study of adult suspected and confirmed patients of COVID-19 admitted to King Saud University Medical City, Riyadh, Saudi Arabia, from 1st March 2020 until 30th November 2020. Laboratory confirmation is done through nasal/pharyngeal swab specimens, tested positive in RT-PCR assay. Patients with initial negative RT-PCR test results were assessed again within 48-72 h to avoid false-negative results. Patient data were extracted from the electronic medical files of each included patient using a predesigned case report form. RESULTS: The study included 488 (80.93%) patients with RT-PCR swab results positive, and 115 (19.07%) patients who were negative. Respiratory rate and diastolic blood pressure were higher among the swab-positive cases. More number of swab-negative patients had comorbidities such as coronary heart disease, chronic kidney disease, and carcinoma. Fever, cough, and shortness of breath were reported higher among the swab-positive cases. ALT and AST, and LDH levels were found higher among RT-PCR-positive patients. Serum creatinine, blood urea nitrogen and troponin were more elevated in RT-PCR-negative patients. Antibiotics, anticoagulants, and corticosteroids were used more by swab-positive patients. Significantly higher number of RT-PCR-positive patients required proning, high-flow nasal cannula, non-invasive mechanical ventilation, and invasive mechanical ventilation. Acute cardiac ischemia and death were found to be similar among the patients. However, deaths occurred significantly earlier among the swab-positive cases when compared to the swab-negative group. CONCLUSION: Distinctive symptoms and markers of COVID-19 are more frequent among patients who had RT-PCR-positive results.

Risk factors and predictors that influence SARS-Cov-2 IgG positivity: A cross-sectional study of blood donors in Riyadh, Saudi Arabia.

OBJECTIVES: To study the prevalence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) after pandemic's peak and before the vaccine enrollment in Riyadh, Saudi Arabia and further explore predictors for SARS-CoV-2 positivity. METHODS: A cross-sectional study of 515 blood donors from November 22 to December 17, 2020 was conducted at King Saud University Medical City, Riyadh, Saudi Arabia to look at SARS-CoV-2 immunoglobulin G (IgG) positivity. The participants were asked questions about their demographic characteristics, past SARS-CoV-2 infection, SARS-CoV-2-related symptoms and exposures. RESULTS: The seroprevalence in our study was 12.2% (n=63/515). Being a non-citizen was associated with significantly higher seroprevalence (OR 2.10, p=0.02). Participants with history of SARS-CoV-2 exposure or symptoms regardless of SARS-CoV-2 diagnosis had higher SARS-CoV-2 IgG positivity compared to unexposed or asymptomatic participants (OR 2.47, p=0.0008 or 11.19, p=0.0001, respectively). Blood donors who had symptomatic SARS-CoV-2 IgG infection had a higher SARS-CoV-2 IgG positivity rate (OR 5.04, p=0.008) and index value (p=0.003) than the asymptomatic. Of all the reported symptoms, cough (p=0.004) and anosmia (p=0.002) were significant predictors of SARS-CoV-2 IgG. CONCLUSION: The seroprevalence of SARS-CoV-2 among the blood donors in Riyadh, Saudi Arabia is considerably lower than the percentages necessary for herd immunity. Developing SARS-CoV-2-symptoms is the critical factor for higher seropositivity after SARS-CoV-2 exposure.

Trace elements in type 2 diabetes mellitus and their association with glycemic control.

BACKGROUND: Alterations in serum levels of trace elements reported in type 2 diabetes mellitus (T2DM) have been linked with induction of T2DM and associated complications. OBJECTIVES: To assess serum levels of copper (Cu), zinc (Zn) and selenium (Se) in T2DM patients with adequate and poor glycemic control. PATIENTS AND METHODS: This study was performed at King Khalid University Hospital, Riyadh. A total of 100 consenting T2DM patients comprising of 50 patients with glycated hemoglobin (HbA1c) less than 6.5% and 50 patients with HbA1c more than 6.5% along with a group of 50 normal healthy individuals were included in the study. Serum levels of Cu, Zn and Se were measured by inductively coupled plasma-mass spectrometry (ICP-MS) instrument. RESULTS: Among T2DM patients with HbA1c <6.5%, mean serum Cu levels (13.4+4.3µmol/L) were not different from the controls (14.5+1.92µmol/L) whereas Zn (9.9+2.7µmol/Lvs15+3.2µmol/L;p<0.0001) and Se levels (1+0.2µmol/Lvs1.62+0.2µmol/L; p<0.0004) were lower than the controls. Among T2DM patients with HbA1c >6.5% mean serum Cu (18.1+4.1µmol/Lvs14.5+1.9µmol/L; p<0.0001), Zn (15+3.2µmol/Lvs13.5+1.9µmol/L; p<0.009) and Se (1.62+0.2µmol/Lvs1.17+0.16µmol/L;p<0.0001) were significantly higher than the controls. HbA1c% negatively correlated with HbA1c >6.5% (r = -0.302; p<0.03). CONCLUSION: Cu, Zn and Se homeostasis was altered in T2DM patients and varied with glycemic control.

Iron Deficiency and Iron Deficiency Anemia Are Common Epidemiological Conditions in Saudi Arabia: Report of the National Epidemiological Survey.

Iron deficiency is the most prevalent nutritional deficiency worldwide. According to an estimate by the World Health Organization, up to 27% of the world's population experience iron deficiency anemia (IDA). Studies conducted in the Middle East, including Saudi Arabia, have suggested that IDA is the most common cause of anemia, especially among females. This study aimed to determine the prevalence of IDA and iron deficiency (ID) among apparently healthy young university students from four regions in Saudi Arabia. Students were asked to complete a simple survey questionnaire; blood samples were then collected and analyzed after obtaining informed consent. A total of 981 students completed the survey, with 11% of the participants reporting symptoms of anemia; 34% of participants were diagnosed with IDA and 6% reported a diagnosis of hemoglobinopathy. Blood analysis confirmed the prevalence of ID and IDA in 28.6% and 10.7% of the participants, respectively; those with ID and IDA were mostly females (88.5% and 94%, resp.). Thalassemia trait and sickle cell trait were detected in 1.3% and 7% of participants, respectively. Our findings from a national survey among young university in Saudi Arabia indicate a high prevalence of ID and IDA.

Protective effect of lyophilized sapodilla (Manilkara zapota) fruit extract against CCl4-induced liver damage in rats.

The tropical fruit sapodilla (Manilkara zapota syn. Achras zapota) is a rich source of nutrients, minerals and a myriad of bioactive phytochemicals such as flavonoids and catechins. Pharmacologically, sapodilla has been shown to exhibit anti-bacterial, anti-parasitic, anti-fungal, antiglycative, hypocholesterolemic and anti-cancer effects. However, its influence on hepatic tissue and serum lipids remains obscure. To address this, we used an in vivo model of liver damage to elucidate the effect of lyophilized sapodilla extract (LSE) treatment in carbon tetra chloride (CCl4) intoxicated rats. Exposure of CCl4 resulted in elevation of serum biomarkers of liver damage (aspartate transaminase, alanine aminotransferase, γ-glutamyl transferase and alkaline phosphatase), bilirubin and dysregulation of serum lipid profile (cholesterol and triglycerides). These effects were significantly and dose-dependently reversed by LSE treatment (250 and 500 mg/kg). Administration of LSE also reduced the structural damage caused by CCl4 in the liver. Furthermore, determination of oxidative stress parameters (malondialdehyde and non-protein sulfhydryls) revealed that LSE treatment mitigated CCl4-triggered modulation of both molecules. LSE also showed a strong antioxidant activity in 2,2-diphenyl-1-picrylhydrazyl (DPPH) and ß-carotene-linoleic acid assays. In conclusion, the present study discloses the hepatoprotective and lipid-lowering effects of lyophilized sapodilla extract against CCl4-induced liver damage, an effect, at least in part, mediated by its antioxidant activity.

Vitamin D cutoff point in relation to parathyroid hormone: a population based study in Riyadh city, Saudi Arabia.

The current recommended cutoff value for low vitamin D may result in overestimation of hypovitaminosis D. Vitamin D levels at 30.0 nmol/L can diagnose the hyperparathyroid cases leading to bone loss, with moderate accuracy, in the Saudi population. The new cutoff may help in identifying true cases that need clinical treatment and can reduce the burden on healthcare system. PURPOSE: Different regions of the world have reported varying cutoff points as optimal values for vitamin D status to maintain bone health. METHODS: A cross-sectional study comprising of interviews, anthropometrics, and blood samples was conducted in primary healthcare centers in Riyadh, Saudi Arabia. Standardized serum 25-hydroxyvitamin D [25(OH)D] and parathyroid hormone (PTH) were measured using electrochemiluminescence immunoassays. Independent sample and paired sample t test were conducted to compare the true means. Pearson correlation co-efficient was calculated to measure the association between original and standardized 25(OH)D. Software program, MedCalc, was utilized to measure the receiver operating curve (ROC) for determining the optimal threshold value for vitamin D. RESULTS: The mean standardized 25(OH)D levels for 846 males and 1285 females were (32.0 ± 14.4 nmol/L vs 31.6 ± 16.7 nmol/L) respectively. Using the gold standard PTH cutoff > 6.9 pmol/L, the ROC had an optimal criterion value for males and females at 30.0 and 24.0 nmol/L, respectively. In the males, the sensitivity and specificity were 72% and 51%, whereas in females, it was 58.2% and 66.7%, respectively. The area under the curve (AUC) was at 0.62 and 0.65 (p < 0.001), respectively. CONCLUSION: The recommended cutoff value for 25(OH)D for determining bone health in the Saudi population is at 30.0 nmol/L. The comparatively low cutoff point can significantly decrease the number of people diagnosed and treated with low vitamin D, which can also reduce the burden on the health care system.

Role of Apolipoprotein E gene polymorphism in the risk of familial hypercholesterolemia: a case-control study.

Familial Hypercholesterolemia (FH) is characterized by elevated cholesterol and based on biochemical, clinical, and genetic studies and FH disease, which was documented even with limited mutations. Earlier studies focused on Apolipoprotein E (ApoE) in variable diseases. The current study aimed to investigate the genetic association between FH disease and ApoE gene polymorphisms (rs429358 and rs7412) in the Saudi population. This case-control study was a hospital-based study performed in Saudi Arabia. Two hundred and four subjects in total were recruited and consisted of FH participants (n=104) and the controls (n=100). Common polymorphisms of ApoE gene (rs429358 and rs7412) were chosen and subjected to the genotyping using the TaqMan assay. Moreover, the ApoE risk allele E4 was proved significantly associated with FH cases when compared with controls (OR-2.24 (95%CI: 1.06-4.70); p=0.02). Lipid profile parameters were significantly associated (p<0.05); however, the ApoE alleles and lipid profiles were not correlated (p>0.05). In conclusion, the FH case-control study was associated with the E4 allele in the Saudi population. However, E4 allele was appeared as a reliable risk marker for lipid profiles, but not for ApoE alleles.

Q192R polymorphism in the PON1 gene and familial hypercholesterolemia in a Saudi population.

BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant condition characterized by abnormal levels of low-density lipoprotein (LDL) in the blood. FH is a risk factor for atherosclerosis and cardiovascular disease. The relationship between the paraoxonase 1 (PON1) gene, atherosclerosis and coronary artery disease has not been studied in Saudi patients. OBJECTIVE: To investigate the genetic associations of the Q192R polymorphism in the PON1 gene with FH in Saudi patients. DESIGN: Case-control study. SETTING: Tertiary care center, Riyadh. METHODS: Two hundred Saudi patients were enrolled in this study, including 100 patients with FH and 100 healthy controls, during the period from January 2012 to March 2013. Serum was separated from coagulated blood (3 mL) and used for analysis of lipid profiles. Genomic DNA was isolated from anticoagulant-treated blood (2 mL). Genotyping for the Q192R polymorphism was performed by polymerase chain reaction-restriction fragment length polymorphism analysis, followed by 3% agarose gel electrophoresis. MAIN OUTCOME MEASURE: The strength of association between the Q192R polymorphism and FH in the Saudi population. RESULTS: We confirmed that QR versus QQ (odds ratio [OR]: 1.55; 95% confidence interval [CI]: 1.05-3.43; P=.03), QR+RR versus QQ (OR: 1.98; 95% CI: 1.13-3.49; P=.01), and R versus Q (OR: 1.68; 95% CI: 1.09- 2.59; P=.01) in the Q192R polymorphism were associated with FH in the Saudi population. CONCLUSION: In conclusion, the Q192R polymorphism in the PON1 gene is associated with FH in the Saudi population. Our results confirmed that the R allele, QR, and dominant model genotypes were associated with FH. LIMITATION: Only a single variant (Q192R) was analyzed, and the medical and family histories of the patients were not known.

Frequency of Rh and K antigens in blood donors in Riyadh

ABSTRACT Objectives: Investigate the prevalence of Rh and the K antigens and their phenotypes in the red blood cells of blood donors in Riyadh, Saudi Arabia. Methods: This is a retrospective study. The five principal Rh antigens (D, C, c, E, e) and the Kell antigen from the Kell blood group were tested in 4,675 random samples collected from four blood bank centers in Riyadh. Data were collected for seven weeks (from January 4, 2019 to February 28, 2019). Antigens were tested using the TANGO Optimo system. Results: We found that approximately 86% of the donors had the D antigen, 66% had C, 78% had c, 26% had E, 97% had e and 14% had K. The most common Rh phenotypes were R1r (31%) and R1R1 (22%). Conclusion: The differences in the results between the study population and other populations, such as Caucasian, Indian and African populations indicate the importance of establishing a population-specific database.

Zinc and antioxidant vitamin deficiency in patients with severe sickle cell anemia.

BACKGROUND: Patients with severe sickle cell anemia (SCA) have a higher potential for oxidative damage due to chronic redox imbalance in red blood cells that often leads to hemolysis, endothelial injury and recurrent vaso-occlusive episodes. This study evaluated the plasma levels of vitamins A, C and E as indicators of antioxidant status. In addition, serum levels of zinc and copper were also estimated. PATIENTS AND METHODS: Twenty-five adult patients with severe sickle cell anemia (12 males and 13 females aged 29.72+/-12.94 years) and 25 matched controls were studied. Plasma levels of vitamins A, C and E were measured by HPLC technique. Serum zinc and copper levels were measured by atomic absorption spectrometry. RESULTS: There was a significant decrease in plasma levels of vitamins A, C and E and in serum levels of zinc in patients with SCA as compared with controls (P<0.0001). Serum copper levels were signficantly elevated compared with controls (P<0.0001). CONCLUSION: These findings emphasize the significant deficiencies of the antioxidant vitamins A, C and E and the trace element zinc along with the significant elevation of serum copper in patients with severe sickle cell disease. Further studies are needed to find out whether supplementation of antioxidant vitamins and zinc may ameliorate some sickle cell disease complications.