Maha Al-rasheed - Academia.edu (original) (raw)

Papers by Maha Al-rasheed

Research paper thumbnail of Camel milk composition by breed, season, publication year, and country: A global systematic review, meta‐analysis, and meta‐regression

Comprehensive Reviews in Food Science and Food Safety

Research paper thumbnail of Researchers’ Motivation and Its Correlates: An Empirical Study Amid COVID-19 Pandemic in Arab Region

Technologies, Artificial Intelligence and the Future of Learning Post-COVID-19, 2022

Research paper thumbnail of Symptoms of Nomophobia, Psychological Aspects, Insomnia and Physical Activity: A Cross-Sectional Study of ESports Players in Saudi Arabia

Healthcare, 2022

This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY

Research paper thumbnail of Genetics of ataxia telangiectasia in a highly consanguineous population

Annals of Human Genetics, 2021

Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually prese... more Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually presents in toddler years with progressive ataxia and oculomotor apraxia, or less commonly, in the late-first or early-second decade of life with mixed movement disorders. Biallelic mutations in ataxia telangiectasia mutated gene (ATM) cause AT phenotype, a disease not well documented in Saudi Arabia, a highly consanguineous society. We studied several Saudi AT patients, identified ATM variants, and investigated associated clinical features. We included 17 patients from 12 consanguineous families. All patients had comprehensive clinical and radiological assessment, and most were examined through whole-exome sequencing (WES). Selected individuals were analyzed using various genetic approaches. We identified five different ATM variants in our patients: three previously reported mutations, and two novel variants. Nearly all patients had classical AT presentation except for two patients with a milder phenotype. Among the three known variants, a deletion causing truncation (c.381delA resulting in p.(Val128Ter)) was identified in 13 patients. Two patients harboured the other two truncating variants, (c.9001_9002delAG resulting in p.Ser3001Phefs*6) and (c.9066delA resulting in p.Glu3023Alafs*10) and two patients had novel compound heterozygous variants (NM_000051.3:Paternal Allele:c.8762C > G;p.Thr2921Arg and Maternal Allele:c.1057T > C;p.Cys353Arg). We speculate that c.381delA is a founder mutation in our population. This study provides a genotype-phenotype relationship in a previously unstudied consanguineous population. Our findings contribute to improve local clinical care, therapy, and genetic counseling.

Research paper thumbnail of Ethnicity and Response to Drug Therapy

Cholesterol Lowering Therapies and Drugs, 2016

Hypercholesterolemia is a complex disorder presenting in different forms, including the familial ... more Hypercholesterolemia is a complex disorder presenting in different forms, including the familial form (FH), with varying underlying aetiology, and contributing substantially to coronary artery disease. Particularly, the FH underlies monogenic changes in genes involved in cholesterol synthesis and transport, including the low density lipoprotein receptor, proprotein convertase sublitisin/kexin type 9 and apolipoprotein B. However, hyperlipidemia is largely a complex interaction of changes in multiple genes with environmental factors, such as diet, overweight and obesity that are controllable by adopting healthy eating habits and exercise, which may vary by ethnicity. Diet alone is often not adequate to achieve the desired lipid lowering effect in individuals harbouring very high cholesterol levels, necessitating the use of lipid lowering medication or other forms of therapy. Antilipidemic drugs fall into (a) bile acid sequestrants (b) cholesterol absorption inhibitors, (c) 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors, (d) fibric acid derivatives (e) proprotein convertase subtilisin/kexin type 9 inhibitors, (f) miscellaneous agents and (g) drug combinations. Mutations in their various metabolizing enzymes, particularly the cytochrome P450 family, often lead to partially/non-functional, or even rapid metabolizing phenotypes, triggering great variations in the way individuals respond to drug therapy, which in turn depends on ethnicity. This may produce unexpected outcomes such as therapeutic failure, adverse side effects and toxicity in individuals of different ethnic origin. Hence, in-depth information of the impact of ethnicity on these relationships has the huge potential of achieving optimal quality use of drugs as well as improving the efficacy and safety of antilipidemic therapeutic agents.

Research paper thumbnail of Assessment of Knowledge, Attitude, and Practice of Security and Safety Workers Toward the COVID-19 Pandemic: A Cross-Sectional Study

Frontiers in Public Health, 2021

Aim: This study aimed to assess the knowledge, attitude, and practice (KAP) of security and safet... more Aim: This study aimed to assess the knowledge, attitude, and practice (KAP) of security and safety workers toward the COVID-19 pandemic in Saudi Arabia.Methods: A cross-sectional survey was conducted between April and July 2020 using a self-developed structured questionnaire that was randomly distributed online among security and safety employees in government or private sectors.Results: Among the 712 participants, 53.9% were female and the respondents' mean age was 39.43 years. Television was chosen as the most reliable source of information by 75.0% of the participants. Most of the respondents had a sufficient knowledge about the COVID-19 pandemic, as the majority of them answered the knowledge questions correctly. The significant predictors for their knowledge were their educational level, age, marital status, parenthood status, and employment sector (private or government). Our study revealed an overall 98.6% positive attitude of safety and security workers toward COVID-19. ...

Research paper thumbnail of The rs2228671C>T of the LDLR gene confers risk for low HDL and early onset of coronary artery disease

Research paper thumbnail of The Prevalence of Psychological Distress and Its Relationship to Sleep Quality in Saudi Arabia's General Population During the COVID-19 Pandemic

Frontiers in Psychiatry, 2021

Background We aimed to examine the effect of the COVID-19 pandemic and associated mitigation meas... more Background We aimed to examine the effect of the COVID-19 pandemic and associated mitigation measures on sleep quality and psychological distress in Saudi Arabia. Methods Subjective sleep quality over the preceding 30 days was measured using the Pittsburgh Sleep Quality Index (PSQI). In addition, Kessler Psychological Distress Scale (K10) was used to assess the psychological distress. Results The study included 836 participants. The median age was 28 years, 624 (74.64%) were females, and 158 (18.90%) were healthcare workers. Factors associated with poor sleep were recent changes in the sleep habits p = 0.004), anxiety or fear because of coronavirus news on social media p = 0.02), fear because there was no approved drug to treat COVID-19 p = 0.03), and unaware of the presence of chronic diseases p = 0.03). Female gender p = 0.02), fear or anxiety because of coronavirus news on social media p = 0.04), recent change in sleep habits (OR: 1.97 (1.15–3.39); p = 0.01), fear because there i...

Research paper thumbnail of The Impact of Quarantine on Sleep Quality and Psychological Distress During the COVID-19 Pandemic

Nature and Science of Sleep

Research paper thumbnail of A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts

Genes

Pathogenic variants in GEMIN4 contribute to a hereditary disorder characterized by neurodevelopme... more Pathogenic variants in GEMIN4 contribute to a hereditary disorder characterized by neurodevelopmental features, microcephaly, cataracts, and renal abnormalities (known as NEDMCR). To date, only two homoallelic variations have been linked to the disease. Moreover, clinical features associated with the variants have not been fully elucidated yet. Here, we identified a novel variant in GEMIN4 (NM_015721:exon2:c.440A>G:p.His147Arg) in two siblings from a consanguineous Saudi family by using whole exome sequencing followed by Sanger sequence verification. We comprehensively investigated the patients’ clinical features, including brain imaging and electroencephalogram findings, and compared their phenotypic characteristics with those of previously reported cases. In silico prediction and structural modeling support that the p.His147Arg variant is pathogenic.

Research paper thumbnail of Nomophobia is Associated with Insomnia but Not with Age, Sex, BMI, or Mobile Phone Screen Size in Young Adults

Nature and Science of Sleep

or problematic smartphone use is a psychological disorder in which people are afraid of being cut... more or problematic smartphone use is a psychological disorder in which people are afraid of being cut off from their mobile phones. Currently, there has been no direct assessment of mobile phone screen size in the home setting and its effect on nomophobia and related symptoms, such as insomnia. Thus, we investigated the association between nomophobia, insomnia, and mobile phone screen size in a young adult population in Bahrain. Patients and Methods: Using a descriptive, cross-sectional design, we surveyed participants aged 18 to 35 between August and September 2020 using an online questionnaire. Participants completed demographic questions and questions about personal mobile phones, the Nomophobia Questionnaire (NMP-Q), and the Insomnia Severity Index (ISI). The mobile phone screen size was determined using an open-source online database. Crude and adjusted regression analyses were fitted to examine the associations between the study variables. Results: A total of 549 individuals, 54% females, were included in the final analyses. One hundred and fourteen participants (21%) had severe nomophobia, and 81 (14%) had clinical insomnia. A strong positive pair-wise linear association was observed between NMP-Q and ISI β 0.15, P = 0.001. Age, sex, BMI, and mobile phone screen size showed no association with the NMP-Q. Conclusion: Nomophobia is very prevalent in young adult men and women, and it is closely associated with insomnia, regardless of mobile phone screen size, suggesting that mobile phone screen size should not be used as a proxy for hazardous usage.

Research paper thumbnail of Optimized Conjugation of Fluvastatin to HIV-1 TAT Displays Enhanced Pro-Apoptotic Activity in HepG2 Cells

International Journal of Molecular Sciences

Accumulating evidence indicates that statins reduce the risk of different cancers and inhibit the... more Accumulating evidence indicates that statins reduce the risk of different cancers and inhibit the proliferation of liver cancer cells. This study aims to explore whether the electrostatic conjugation of optimized fluvastatin (FLV) to human immunodeficiency virus type 1 (HIV-1) trans-activator transcription peptide (TAT) would enhance the anti-proliferative activity against HepG2 cells. FLV–TAT conjugation was optimized to achieve the lowest size with highest zeta potential. Nine formulae were constructed, using a factorial design with three factors—FLV concentration, TAT concentration, and pH of the medium—while the responses were zeta potential and size. The optimized formula showed a particle size of 199.24 nm and 29.14 mV zeta potential. Data indicates that conjugation of FLV to TAT (optimized formula) significantly enhances anti-proliferative activity and uptake by HepG2 cells when compared to raw FLV. Flow cytometry showed significant accumulation of cells in the pre-G phase, w...

Research paper thumbnail of A study of the role of DIO1 and DIO2 polymorphism in thyroid cancer and drug response to therapy in the Saudi population

Saudi Pharmaceutical Journal

Research paper thumbnail of Readiness and willingness to provide immunization services: a survey of community pharmacists in Riyadh, Saudi Arabia

Safety in Health

Background: Immunization rates among the adult population in Saudi Arabia fall below desired targ... more Background: Immunization rates among the adult population in Saudi Arabia fall below desired targets, urging the need to expand this service in the community. Community pharmacists are recognized as highly accessible healthcare professionals, and community pharmacies-because of the convenient location and extended working hours-offer a unique place to provide a vaccination service. The aims of this study were to assess community pharmacists' readiness and willingness to provide an immunization service and to identify the factors that may support the implementation of such service in Riyadh region, Saudi Arabia. Methods: This study was a cross-sectional paper-based survey conducted in the community pharmacy setting in Riyadh region between February and April 2016. A questionnaire was developed to determine the pharmacists' readiness and willingness to provide immunization services. A convenience sample of community pharmacists from five different parts of Riyadh was reached and invited to participate. Results: Of the 179 invited community pharmacists, 139 completed the survey (response rate was 77.7%). Of the 139 respondents, 76 (55%) expressed their willingness to administer vaccines and establish an immunization service. Among the participants that had shown willingness, many explained their reasons in accepting this role, including their accessibility in the community (56/57, 98.3%) and the possibility of expansion in the rate of immunization coverage in certain age group, such as the elderly (47/51, 92.2%). The remaining 63 (45%) respondents who were not willing and ready to provide immunization services mainly agreed that a lack of training (46/61, 75.4%) and concerns in maintaining patient safety (31/46, 67.4%) were considered as barriers to deliver immunization services. Most importantly, continuous professional education and training workshop on immunization and pharmacist's interest were the main drivers of immunization service implementation. Conclusion: Community pharmacists working in Saudi Arabia are willing to provide immunization services. However, overcoming the barriers identified in this study is a key to success in any future planning for implementing immunization services in the community pharmacy setting. Future larger studies are also needed to explore patients' willingness and acceptability to use this service from community pharmacists.

Research paper thumbnail of Prevalence of comorbidities in cases of Middle East respiratory syndrome coronavirus: a retrospective study

Epidemiology and Infection

The Middle East respiratory syndrome coronavirus (MERS-CoV) is a life-threatening respiratory dis... more The Middle East respiratory syndrome coronavirus (MERS-CoV) is a life-threatening respiratory disease with a high case fatality rate; however, its risk factors remain unclear. We aimed to explore the influence of demographic factors, clinical manifestations and underlying comorbidities on mortality in MERS-CoV patients. Retrospective chart reviews were performed to identify all laboratory-confirmed cases of MERS-COV infection in Saudi Arabia that were reported to the Ministry of Health of Saudi Arabia between 23 April 2014 and 7 June 2016. Statistical analyses were conducted to assess the effect of sex, age, clinical presentation and comorbidities on mortality from MERS-CoV. A total of 281 confirmed MERS-CoV cases were identified: 167 (59.4%) patients were male and 55 (20%) died. Mortality predominantly occurred among Saudi nationals and older patients and was significantly associated with respiratory failure and shortness of breath. Of the 281 confirmed cases, 160 (56.9%) involved ...

Research paper thumbnail of The Ser377Gly of the GATA4 gene is a susceptibility variant for hypertension

Research paper thumbnail of Nomophobia is associated with insomnia but not with age, sex, BMI, or mobile phone screen size in young adults

Nature and Science of Sleep, 2021

Purpose: NOMOPHOBIA (NO MObile PHone PhoBIA) or problematic smartphone use is a psychological dis... more Purpose: NOMOPHOBIA (NO MObile PHone PhoBIA) or problematic smartphone use is a psychological disorder in which people are afraid of being cut off from their mobile phones. Currently, there has been no direct assessment of mobile phone screen size in the home setting and its effect on nomophobia and related symptoms, such as insomnia. Thus, we investigated the association between nomophobia, insomnia, and mobile phone screen size in a young adult population in Bahrain. Patients and methods: Using a descriptive, cross-sectional design, we surveyed participants aged 18 to 35 between August-September 2020 using an online questionnaire. Participants completed demographic questions and questions about personal mobile phones, the nomophobia questionnaire (NMP-Q), and the insomnia severity index (ISI). The mobile phone screen size was determined using an open-source online database. Crude and adjusted regression analyses were fitted to examine the associations between the study variables. ...

Research paper thumbnail of Effect of aminoglycoside dosing on magnesium levels in hospitalised patients

International Journal of Antimicrobial Agents, 2007

Research paper thumbnail of The potential role of the sodium symporter gene polymorphism in the development of differentiated thyroid cancer

Gene, 2015

The sodium iodide symporter (NIS) (solute carrier family 5; SLC5A), mediates the active transport... more The sodium iodide symporter (NIS) (solute carrier family 5; SLC5A), mediates the active transport of iodine anion (I(-)) into thyroid follicular cells to facilitate thyroid hormone biosynthesis. Considering its fundamental role in thyroid function, our objective in this study is to explore its potential involvement in the pathogenesis of differentiated thyroid cancer (DTC). Following a preliminary sequencing of the gene in a representative sample of the general population, five variants, (1) rs45602038, (2) rs4808708, (3) rs4808709, (4) rs7250346 and (5) rs12327843, were selected for a larger population-based association study consisting of 507 cases and 597 controls, of which only the rs45602038_TT [Odds ratio (95% confidence interval)=1.90 (1.26-2.88); p=0.002] was associated with disease following adjustment for other confounders using the multivariate analysis. Furthermore, a 5-mer haplotype CGAGT constructed from the five studied SNPs conferred a significant risk (χ(2)=10.98; p=0.0009) for DTC. This association trickled down through shorter derivatives, with the 4-mer haplotype CGAG (χ(2)=13.25; p=0.0003) displaying the most significant association and the 3-mer GAG (χ(2)=11.80; p=0.0006) being equally strongly linked to the disease. Comparison of the flanking derivatives of the primary 5-mer haplotype also indicated that the 3-mer CGA (χ(2)=4.04; p=0.045) constructed from SNP block 1-3 was a lot weaker than that of the AGT (χ(2)=6.73; p=0.0095) constructed from the blocks 3-5 from the other end of the gene. Put together, these data implicate the three nucleotide changes at the rs4808708, rs4808709 and rs7250346 loci (blocks 2-4) as the core for this relationship.

Research paper thumbnail of Diagnostic Value of Recombinant Human Thyrotropin–Stimulated 123I Whole-Body Scintigraphy in the Follow-Up of Patients With Differentiated Thyroid Cancer

Clinical Nuclear Medicine, 2012

Published data on recombinant human thyrotropin- (rhTSH-) stimulated iodine-123 (¹²³I) diagnostic... more Published data on recombinant human thyrotropin- (rhTSH-) stimulated iodine-123 (¹²³I) diagnostic whole-body scintigraphy (DxWBS) in differentiated thyroid cancer (DTC) surveillance after initial treatment are limited. We sought to evaluate this modality's diagnostic value in this setting. We retrospectively compared rhTSH-stimulated ¹²³I DxWBS results with DTC status concurrently determined by stimulated serum thyroglobulin (Tg) measurement, neck ultrasonography, and other imaging studies. Disease was considered present based on stimulated Tg level ≥1 μg/L without interfering Tg autoantibodies with or without positive imaging or biopsy-proven DTC. We also compared scan positivity and disease detection rates of rhTSH-stimulated DxWBS scans obtained with ¹²³I with those acquired with iodine-131 (¹³¹I) during the same period. The sample comprised 105 consecutive totally thyroidectomized patients undergoing rhTSH-aided DxWBS with I-123 (n = 67) or with ¹³¹I (n = 38) for diagnostic follow-up. rhTSH, 0.9 mg/d, was injected intramuscularly on 2 consecutive days. Oral diagnostic activities of 5 to 10 mCi (185-370 MBq) ¹²³I or 3 mCi (111 MBq) ¹³¹I were given on the third day. DxWBS was performed 24 hours (¹²³I) or 48 to 72 hours (¹³¹I) later. rhTSH-aided ¹²³I DxWBS scans showed 35.3% sensitivity, 98.0% specificity, 85.7% positive predictive value, and 81.6% negative predictive value. rhTSH-stimulated ¹²³I and ¹³¹I DxWBS did not differ in scan positivity (10.4% vs. 13.2%, P = 0.75) or disease detection rates (35.3% vs. 27.8%, P = 1.00). In DTC, rhTSH-aided ¹²³I DxWBS achieves comparable results in diagnostic follow-up with those of rhTSH-aided ¹³¹I DxWBS. Future studies should address the preablation setting and scan activity and timing.

Research paper thumbnail of Camel milk composition by breed, season, publication year, and country: A global systematic review, meta‐analysis, and meta‐regression

Comprehensive Reviews in Food Science and Food Safety

Research paper thumbnail of Researchers’ Motivation and Its Correlates: An Empirical Study Amid COVID-19 Pandemic in Arab Region

Technologies, Artificial Intelligence and the Future of Learning Post-COVID-19, 2022

Research paper thumbnail of Symptoms of Nomophobia, Psychological Aspects, Insomnia and Physical Activity: A Cross-Sectional Study of ESports Players in Saudi Arabia

Healthcare, 2022

This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY

Research paper thumbnail of Genetics of ataxia telangiectasia in a highly consanguineous population

Annals of Human Genetics, 2021

Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually prese... more Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually presents in toddler years with progressive ataxia and oculomotor apraxia, or less commonly, in the late-first or early-second decade of life with mixed movement disorders. Biallelic mutations in ataxia telangiectasia mutated gene (ATM) cause AT phenotype, a disease not well documented in Saudi Arabia, a highly consanguineous society. We studied several Saudi AT patients, identified ATM variants, and investigated associated clinical features. We included 17 patients from 12 consanguineous families. All patients had comprehensive clinical and radiological assessment, and most were examined through whole-exome sequencing (WES). Selected individuals were analyzed using various genetic approaches. We identified five different ATM variants in our patients: three previously reported mutations, and two novel variants. Nearly all patients had classical AT presentation except for two patients with a milder phenotype. Among the three known variants, a deletion causing truncation (c.381delA resulting in p.(Val128Ter)) was identified in 13 patients. Two patients harboured the other two truncating variants, (c.9001_9002delAG resulting in p.Ser3001Phefs*6) and (c.9066delA resulting in p.Glu3023Alafs*10) and two patients had novel compound heterozygous variants (NM_000051.3:Paternal Allele:c.8762C > G;p.Thr2921Arg and Maternal Allele:c.1057T > C;p.Cys353Arg). We speculate that c.381delA is a founder mutation in our population. This study provides a genotype-phenotype relationship in a previously unstudied consanguineous population. Our findings contribute to improve local clinical care, therapy, and genetic counseling.

Research paper thumbnail of Ethnicity and Response to Drug Therapy

Cholesterol Lowering Therapies and Drugs, 2016

Hypercholesterolemia is a complex disorder presenting in different forms, including the familial ... more Hypercholesterolemia is a complex disorder presenting in different forms, including the familial form (FH), with varying underlying aetiology, and contributing substantially to coronary artery disease. Particularly, the FH underlies monogenic changes in genes involved in cholesterol synthesis and transport, including the low density lipoprotein receptor, proprotein convertase sublitisin/kexin type 9 and apolipoprotein B. However, hyperlipidemia is largely a complex interaction of changes in multiple genes with environmental factors, such as diet, overweight and obesity that are controllable by adopting healthy eating habits and exercise, which may vary by ethnicity. Diet alone is often not adequate to achieve the desired lipid lowering effect in individuals harbouring very high cholesterol levels, necessitating the use of lipid lowering medication or other forms of therapy. Antilipidemic drugs fall into (a) bile acid sequestrants (b) cholesterol absorption inhibitors, (c) 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors, (d) fibric acid derivatives (e) proprotein convertase subtilisin/kexin type 9 inhibitors, (f) miscellaneous agents and (g) drug combinations. Mutations in their various metabolizing enzymes, particularly the cytochrome P450 family, often lead to partially/non-functional, or even rapid metabolizing phenotypes, triggering great variations in the way individuals respond to drug therapy, which in turn depends on ethnicity. This may produce unexpected outcomes such as therapeutic failure, adverse side effects and toxicity in individuals of different ethnic origin. Hence, in-depth information of the impact of ethnicity on these relationships has the huge potential of achieving optimal quality use of drugs as well as improving the efficacy and safety of antilipidemic therapeutic agents.

Research paper thumbnail of Assessment of Knowledge, Attitude, and Practice of Security and Safety Workers Toward the COVID-19 Pandemic: A Cross-Sectional Study

Frontiers in Public Health, 2021

Aim: This study aimed to assess the knowledge, attitude, and practice (KAP) of security and safet... more Aim: This study aimed to assess the knowledge, attitude, and practice (KAP) of security and safety workers toward the COVID-19 pandemic in Saudi Arabia.Methods: A cross-sectional survey was conducted between April and July 2020 using a self-developed structured questionnaire that was randomly distributed online among security and safety employees in government or private sectors.Results: Among the 712 participants, 53.9% were female and the respondents' mean age was 39.43 years. Television was chosen as the most reliable source of information by 75.0% of the participants. Most of the respondents had a sufficient knowledge about the COVID-19 pandemic, as the majority of them answered the knowledge questions correctly. The significant predictors for their knowledge were their educational level, age, marital status, parenthood status, and employment sector (private or government). Our study revealed an overall 98.6% positive attitude of safety and security workers toward COVID-19. ...

Research paper thumbnail of The rs2228671C>T of the LDLR gene confers risk for low HDL and early onset of coronary artery disease

Research paper thumbnail of The Prevalence of Psychological Distress and Its Relationship to Sleep Quality in Saudi Arabia's General Population During the COVID-19 Pandemic

Frontiers in Psychiatry, 2021

Background We aimed to examine the effect of the COVID-19 pandemic and associated mitigation meas... more Background We aimed to examine the effect of the COVID-19 pandemic and associated mitigation measures on sleep quality and psychological distress in Saudi Arabia. Methods Subjective sleep quality over the preceding 30 days was measured using the Pittsburgh Sleep Quality Index (PSQI). In addition, Kessler Psychological Distress Scale (K10) was used to assess the psychological distress. Results The study included 836 participants. The median age was 28 years, 624 (74.64%) were females, and 158 (18.90%) were healthcare workers. Factors associated with poor sleep were recent changes in the sleep habits p = 0.004), anxiety or fear because of coronavirus news on social media p = 0.02), fear because there was no approved drug to treat COVID-19 p = 0.03), and unaware of the presence of chronic diseases p = 0.03). Female gender p = 0.02), fear or anxiety because of coronavirus news on social media p = 0.04), recent change in sleep habits (OR: 1.97 (1.15–3.39); p = 0.01), fear because there i...

Research paper thumbnail of The Impact of Quarantine on Sleep Quality and Psychological Distress During the COVID-19 Pandemic

Nature and Science of Sleep

Research paper thumbnail of A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts

Genes

Pathogenic variants in GEMIN4 contribute to a hereditary disorder characterized by neurodevelopme... more Pathogenic variants in GEMIN4 contribute to a hereditary disorder characterized by neurodevelopmental features, microcephaly, cataracts, and renal abnormalities (known as NEDMCR). To date, only two homoallelic variations have been linked to the disease. Moreover, clinical features associated with the variants have not been fully elucidated yet. Here, we identified a novel variant in GEMIN4 (NM_015721:exon2:c.440A>G:p.His147Arg) in two siblings from a consanguineous Saudi family by using whole exome sequencing followed by Sanger sequence verification. We comprehensively investigated the patients’ clinical features, including brain imaging and electroencephalogram findings, and compared their phenotypic characteristics with those of previously reported cases. In silico prediction and structural modeling support that the p.His147Arg variant is pathogenic.

Research paper thumbnail of Nomophobia is Associated with Insomnia but Not with Age, Sex, BMI, or Mobile Phone Screen Size in Young Adults

Nature and Science of Sleep

or problematic smartphone use is a psychological disorder in which people are afraid of being cut... more or problematic smartphone use is a psychological disorder in which people are afraid of being cut off from their mobile phones. Currently, there has been no direct assessment of mobile phone screen size in the home setting and its effect on nomophobia and related symptoms, such as insomnia. Thus, we investigated the association between nomophobia, insomnia, and mobile phone screen size in a young adult population in Bahrain. Patients and Methods: Using a descriptive, cross-sectional design, we surveyed participants aged 18 to 35 between August and September 2020 using an online questionnaire. Participants completed demographic questions and questions about personal mobile phones, the Nomophobia Questionnaire (NMP-Q), and the Insomnia Severity Index (ISI). The mobile phone screen size was determined using an open-source online database. Crude and adjusted regression analyses were fitted to examine the associations between the study variables. Results: A total of 549 individuals, 54% females, were included in the final analyses. One hundred and fourteen participants (21%) had severe nomophobia, and 81 (14%) had clinical insomnia. A strong positive pair-wise linear association was observed between NMP-Q and ISI β 0.15, P = 0.001. Age, sex, BMI, and mobile phone screen size showed no association with the NMP-Q. Conclusion: Nomophobia is very prevalent in young adult men and women, and it is closely associated with insomnia, regardless of mobile phone screen size, suggesting that mobile phone screen size should not be used as a proxy for hazardous usage.

Research paper thumbnail of Optimized Conjugation of Fluvastatin to HIV-1 TAT Displays Enhanced Pro-Apoptotic Activity in HepG2 Cells

International Journal of Molecular Sciences

Accumulating evidence indicates that statins reduce the risk of different cancers and inhibit the... more Accumulating evidence indicates that statins reduce the risk of different cancers and inhibit the proliferation of liver cancer cells. This study aims to explore whether the electrostatic conjugation of optimized fluvastatin (FLV) to human immunodeficiency virus type 1 (HIV-1) trans-activator transcription peptide (TAT) would enhance the anti-proliferative activity against HepG2 cells. FLV–TAT conjugation was optimized to achieve the lowest size with highest zeta potential. Nine formulae were constructed, using a factorial design with three factors—FLV concentration, TAT concentration, and pH of the medium—while the responses were zeta potential and size. The optimized formula showed a particle size of 199.24 nm and 29.14 mV zeta potential. Data indicates that conjugation of FLV to TAT (optimized formula) significantly enhances anti-proliferative activity and uptake by HepG2 cells when compared to raw FLV. Flow cytometry showed significant accumulation of cells in the pre-G phase, w...

Research paper thumbnail of A study of the role of DIO1 and DIO2 polymorphism in thyroid cancer and drug response to therapy in the Saudi population

Saudi Pharmaceutical Journal

Research paper thumbnail of Readiness and willingness to provide immunization services: a survey of community pharmacists in Riyadh, Saudi Arabia

Safety in Health

Background: Immunization rates among the adult population in Saudi Arabia fall below desired targ... more Background: Immunization rates among the adult population in Saudi Arabia fall below desired targets, urging the need to expand this service in the community. Community pharmacists are recognized as highly accessible healthcare professionals, and community pharmacies-because of the convenient location and extended working hours-offer a unique place to provide a vaccination service. The aims of this study were to assess community pharmacists' readiness and willingness to provide an immunization service and to identify the factors that may support the implementation of such service in Riyadh region, Saudi Arabia. Methods: This study was a cross-sectional paper-based survey conducted in the community pharmacy setting in Riyadh region between February and April 2016. A questionnaire was developed to determine the pharmacists' readiness and willingness to provide immunization services. A convenience sample of community pharmacists from five different parts of Riyadh was reached and invited to participate. Results: Of the 179 invited community pharmacists, 139 completed the survey (response rate was 77.7%). Of the 139 respondents, 76 (55%) expressed their willingness to administer vaccines and establish an immunization service. Among the participants that had shown willingness, many explained their reasons in accepting this role, including their accessibility in the community (56/57, 98.3%) and the possibility of expansion in the rate of immunization coverage in certain age group, such as the elderly (47/51, 92.2%). The remaining 63 (45%) respondents who were not willing and ready to provide immunization services mainly agreed that a lack of training (46/61, 75.4%) and concerns in maintaining patient safety (31/46, 67.4%) were considered as barriers to deliver immunization services. Most importantly, continuous professional education and training workshop on immunization and pharmacist's interest were the main drivers of immunization service implementation. Conclusion: Community pharmacists working in Saudi Arabia are willing to provide immunization services. However, overcoming the barriers identified in this study is a key to success in any future planning for implementing immunization services in the community pharmacy setting. Future larger studies are also needed to explore patients' willingness and acceptability to use this service from community pharmacists.

Research paper thumbnail of Prevalence of comorbidities in cases of Middle East respiratory syndrome coronavirus: a retrospective study

Epidemiology and Infection

The Middle East respiratory syndrome coronavirus (MERS-CoV) is a life-threatening respiratory dis... more The Middle East respiratory syndrome coronavirus (MERS-CoV) is a life-threatening respiratory disease with a high case fatality rate; however, its risk factors remain unclear. We aimed to explore the influence of demographic factors, clinical manifestations and underlying comorbidities on mortality in MERS-CoV patients. Retrospective chart reviews were performed to identify all laboratory-confirmed cases of MERS-COV infection in Saudi Arabia that were reported to the Ministry of Health of Saudi Arabia between 23 April 2014 and 7 June 2016. Statistical analyses were conducted to assess the effect of sex, age, clinical presentation and comorbidities on mortality from MERS-CoV. A total of 281 confirmed MERS-CoV cases were identified: 167 (59.4%) patients were male and 55 (20%) died. Mortality predominantly occurred among Saudi nationals and older patients and was significantly associated with respiratory failure and shortness of breath. Of the 281 confirmed cases, 160 (56.9%) involved ...

Research paper thumbnail of The Ser377Gly of the GATA4 gene is a susceptibility variant for hypertension

Research paper thumbnail of Nomophobia is associated with insomnia but not with age, sex, BMI, or mobile phone screen size in young adults

Nature and Science of Sleep, 2021

Purpose: NOMOPHOBIA (NO MObile PHone PhoBIA) or problematic smartphone use is a psychological dis... more Purpose: NOMOPHOBIA (NO MObile PHone PhoBIA) or problematic smartphone use is a psychological disorder in which people are afraid of being cut off from their mobile phones. Currently, there has been no direct assessment of mobile phone screen size in the home setting and its effect on nomophobia and related symptoms, such as insomnia. Thus, we investigated the association between nomophobia, insomnia, and mobile phone screen size in a young adult population in Bahrain. Patients and methods: Using a descriptive, cross-sectional design, we surveyed participants aged 18 to 35 between August-September 2020 using an online questionnaire. Participants completed demographic questions and questions about personal mobile phones, the nomophobia questionnaire (NMP-Q), and the insomnia severity index (ISI). The mobile phone screen size was determined using an open-source online database. Crude and adjusted regression analyses were fitted to examine the associations between the study variables. ...

Research paper thumbnail of Effect of aminoglycoside dosing on magnesium levels in hospitalised patients

International Journal of Antimicrobial Agents, 2007

Research paper thumbnail of The potential role of the sodium symporter gene polymorphism in the development of differentiated thyroid cancer

Gene, 2015

The sodium iodide symporter (NIS) (solute carrier family 5; SLC5A), mediates the active transport... more The sodium iodide symporter (NIS) (solute carrier family 5; SLC5A), mediates the active transport of iodine anion (I(-)) into thyroid follicular cells to facilitate thyroid hormone biosynthesis. Considering its fundamental role in thyroid function, our objective in this study is to explore its potential involvement in the pathogenesis of differentiated thyroid cancer (DTC). Following a preliminary sequencing of the gene in a representative sample of the general population, five variants, (1) rs45602038, (2) rs4808708, (3) rs4808709, (4) rs7250346 and (5) rs12327843, were selected for a larger population-based association study consisting of 507 cases and 597 controls, of which only the rs45602038_TT [Odds ratio (95% confidence interval)=1.90 (1.26-2.88); p=0.002] was associated with disease following adjustment for other confounders using the multivariate analysis. Furthermore, a 5-mer haplotype CGAGT constructed from the five studied SNPs conferred a significant risk (χ(2)=10.98; p=0.0009) for DTC. This association trickled down through shorter derivatives, with the 4-mer haplotype CGAG (χ(2)=13.25; p=0.0003) displaying the most significant association and the 3-mer GAG (χ(2)=11.80; p=0.0006) being equally strongly linked to the disease. Comparison of the flanking derivatives of the primary 5-mer haplotype also indicated that the 3-mer CGA (χ(2)=4.04; p=0.045) constructed from SNP block 1-3 was a lot weaker than that of the AGT (χ(2)=6.73; p=0.0095) constructed from the blocks 3-5 from the other end of the gene. Put together, these data implicate the three nucleotide changes at the rs4808708, rs4808709 and rs7250346 loci (blocks 2-4) as the core for this relationship.

Research paper thumbnail of Diagnostic Value of Recombinant Human Thyrotropin–Stimulated 123I Whole-Body Scintigraphy in the Follow-Up of Patients With Differentiated Thyroid Cancer

Clinical Nuclear Medicine, 2012

Published data on recombinant human thyrotropin- (rhTSH-) stimulated iodine-123 (¹²³I) diagnostic... more Published data on recombinant human thyrotropin- (rhTSH-) stimulated iodine-123 (¹²³I) diagnostic whole-body scintigraphy (DxWBS) in differentiated thyroid cancer (DTC) surveillance after initial treatment are limited. We sought to evaluate this modality's diagnostic value in this setting. We retrospectively compared rhTSH-stimulated ¹²³I DxWBS results with DTC status concurrently determined by stimulated serum thyroglobulin (Tg) measurement, neck ultrasonography, and other imaging studies. Disease was considered present based on stimulated Tg level ≥1 μg/L without interfering Tg autoantibodies with or without positive imaging or biopsy-proven DTC. We also compared scan positivity and disease detection rates of rhTSH-stimulated DxWBS scans obtained with ¹²³I with those acquired with iodine-131 (¹³¹I) during the same period. The sample comprised 105 consecutive totally thyroidectomized patients undergoing rhTSH-aided DxWBS with I-123 (n = 67) or with ¹³¹I (n = 38) for diagnostic follow-up. rhTSH, 0.9 mg/d, was injected intramuscularly on 2 consecutive days. Oral diagnostic activities of 5 to 10 mCi (185-370 MBq) ¹²³I or 3 mCi (111 MBq) ¹³¹I were given on the third day. DxWBS was performed 24 hours (¹²³I) or 48 to 72 hours (¹³¹I) later. rhTSH-aided ¹²³I DxWBS scans showed 35.3% sensitivity, 98.0% specificity, 85.7% positive predictive value, and 81.6% negative predictive value. rhTSH-stimulated ¹²³I and ¹³¹I DxWBS did not differ in scan positivity (10.4% vs. 13.2%, P = 0.75) or disease detection rates (35.3% vs. 27.8%, P = 1.00). In DTC, rhTSH-aided ¹²³I DxWBS achieves comparable results in diagnostic follow-up with those of rhTSH-aided ¹³¹I DxWBS. Future studies should address the preablation setting and scan activity and timing.

Research paper thumbnail of The impact of quarantine on sleep quality and psychological distress during the COVID-19 pandemic

Nature and Science of Sleep, 2021

Purpose: We investigated the impact of isolation on sleep quality and psychological distress duri... more Purpose: We investigated the impact of isolation on sleep quality and psychological distress during the COVID-19 pandemic in Saudi Arabia. Methods: An online survey was conducted on 353 (88 isolated and 265 not isolated) individuals from May to June 2020. Subjective sleep quality was determined using the Pittsburgh Sleep Quality Index (PSQI), and psychological distress measured using the Kessler Psychological distress scale (K10). Results: The mean age of the isolated group was 28.6 years versus 27.5 years for the non-isolated group, with male participants accounting for 37% in both groups. The mean PSQI score was 8.5±3.6 and 8.4±3.5 for the isolated and non-isolated groups, respectively (P= 0.92). The mean K-10 score was 27.6± 9.4 and 25.3± 9.5 for the isolated and non-isolated groups, respectively (P= 0.04). Poor sleep (PSQI ≥6) was reported in 235 (66.6%) and psychological distress (K-10 ≥20) in 244 (69.1%) participants. Isolation was not associated with poor sleep (OR: 0.73 (95% CI: 0.41-1.3), P=0.29), but was statistically significant with psychological distress (OR: 2.12 (95% CI: 1.10-4.08), P=0.03). Conclusion: Poor sleep and psychological distress symptoms were highly prevalent in our study population. Isolation may influence psychological distress but not sleep quality during the COVID-19 pandemic.