This study used bibliometric analysis to investigate the research on Attention-Deficit/Hyperactivity Disorder (ADHD) in pediatric populations between January 2014 and January 2024. The Scopus database is utilized to gather a diverse array of scholarly research on this complex ailment. Our objective was to compile a comprehensive dataset on understanding and managing ADHD by selecting specific terms such as “ADHD in Children”, “ADHD Treatment and Management”, and “Attention-Deficit/Hyperactivity Disorder”. We utilized the advanced analytical capabilities of Biblioshiny (bibliometrix R-package) and VOSviewer (VOSviewer version 1.6.19), within our methodological framework, to do network analysis. By conducting this analysis, we were able to examine patterns in publications, author affiliations, the geographic spread of research, and identify influential texts and developing research topics. The findings underscore the collaborative endeavors of medicine, psychology, and neuroscience in tackling the physiological and psychological aspects of ADHD, with a focus on interdisciplinary contributions. The extensive global impact of ADHD research is highlighted by the significant contributions made by countries including the United States, China, the UK, the Netherlands, and Canada. Our data indicates a notable shift towards holistic strategies that encompass socioeconomic, environmental, and behavioral aspects, alongside emerging practices like the utilization of non-invasive brain stimulation techniques in research. This bibliometric study offers a comprehensive view of ADHD research by identifying significant patterns and clusters of themes. It illuminates the shifts in scientific conversation over time and identifies areas that show potential for additional research. The study advocates for ongoing collaboration across various disciplines and nations, emphasizing the significance of innovative strategies to enhance the well-being of those affected by ADHD.
Background: Mutations in the EPOR gene can disrupt its normal signaling pathways, leading to hematological disorders such as polycythemia vera and other myeloproliferative diseases. Methodology: In this study, a range of bioinformatics tools, including SIFT, PolyPhen-2, SNAP2, SNPs & Go, PhD-SNP, I-Mutant2.0, MuPro, MutPred, ConSurf, HOPE, and Interpro were used to assess the deleterious effects of missense nonsynonymous single nucleotide polymorphisms (nsSNPs) on protein structure and function. Furthermore, molecular dynamics simulations (MDS) were conducted to assess the structural deviations of the identified mutant variants in comparison to the wild type. Results: The results identified two nsSNPs, R223P and G302S, as deleterious, significantly affecting protein structure and function. Both substitutions occur in functionally conserved regions and are predicted to be pathogenic, associated with altered molecular mechanisms. The MDSs indicated that while the wild-type EPOR maintained optimal stability, the G302S and R223P variants exhibited substantial deviations, adversely affecting overall protein stability and compactness. Conclusions: The computational analysis of missense nsSNPs in the EPOR gene identified two missense SNPs, R223P and G302S, as deleterious, occurring at highly conserved regions, and having substantial effects on erythropoietin receptor (EPO-R) protein structure and function, suggesting their potential pathogenic consequences.
Insulin gene mutations affect the structure of insulin and are considered a leading cause of neonatal diabetes and permanent neonatal diabetes mellitus PNDM. These mutations can affect the production and secretion of insulin, resulting in inadequate insulin levels and subsequent hyperglycemia. Early discovery or prediction of PNDM can aid in better management and treatment. The current study identified potential deleterious non-synonymous single nucleotide polymorphisms nsSNPs in the INS gene. The analysis of the nsSNPs in the INS gene was conducted using bioinformatics tools by implementing computational algorithms including SIFT, PolyPhen2, SNAP2, SNPs & GO, PhD-SNP, MutPred2, I-Mutant, MuPro, and HOPE tools to investigate the prediction of the potential association between nsSNPs in the INS gene and PNDM. Three mutations, C96Y, P52R, and C96R, were shown to potentially reduce the stability and function of the INS protein. These mutants were subjected to MDSs for structural analysis. Results suggested that these three potential pathogenic mutations may affect the stability and functionality of the insulin protein encoded by the INS gene. Therefore, these changes may influence the development of PNDM. Further researches are required to fully understand the various effects of mutations in the INS gene on insulin synthesis and function. These data can aid in genetic testing for PNDM to evaluate its risk and create treatment and prevention strategies in personalized medicine.
Alpha synuclein (α-Syn) is a neuronal protein encoded by the SNCA gene and is involved in the development of Parkinson’s disease (PD). The objective of this study was to examine in silico the functional implications of non-synonymous single nucleotide polymorphisms (nsSNPs) in the SNCA gene. We used a range of computational algorithms such as sequence conservation, structural analysis, physicochemical properties, and machine learning. The sequence of the SNCA gene was analyzed, resulting in the mapping of 42,272 SNPs that are classified into different functional categories. A total of 177 nsSNPs were identified within the coding region; there were 20 variants that may influence the α-Syn protein structure and function. This identification was made by employing different analytical tools including SIFT, PolyPhen2, Mut-pred, SNAP2, PANTHER, PhD-SNP, SNP&Go, MUpro, Cosurf, I-Mut, and HOPE. Three mutations, V82A, K80E, and E46K, were selected for further examinations due to their spatial positioning within the α-Syn as determined by PyMol. Results indicated that these mutations may affect the stability and function of α-Syn. Then, a molecular dynamics simulation was conducted for the SNCA wildtype and the four mutant variants (p.A18G, p.V82A, p.K80E, and p.E46K). The simulation examined temperature, pressure, density, root-mean-square deviation (RMSD), root-mean-square fluctuation (RMSF), solvent-accessible surface area (SASA), and radius of gyration (Rg). The data indicate that the mutations p.V82A, p.K80E, and p.E46K reduce the stability and functionality of α-Syn. These findings highlight the importance of understanding the impact of nsSNPs on α-syn structure and function. Our results required verifications in further protein functional and case–control studies. After being verified these findings can be used in genetic testing for the early diagnosis of PD, the evaluation of the risk factors, and therapeutic approaches.
Type 2 diabetes (T2D) develops from insulin resistance (IR) and the dysfunction of pancreatic beta cells. The AKT2 protein is very important for the protein signaling pathway, and the non-synonymous SNP (nsSNPs) in AKT2 gene may be associated with T2D. nsSNPs can result in alterations in protein stability, enzymatic activity, or binding specificity. The objective of this study was to investigate the effect of nsSNPs on the AKT2 protein structure and function that may result in the induction of IR and T2D. The study identified 20 variants that were considered to be the most deleterious based on a range of analytical tools included (SIFT, PolyPhen2, Mut-pred, SNAP2, PANTHER, PhD-SNP, SNP & Go, MUpro, Cosurf, and I-Mut). Two mutations, p.A179T and p.L183Q, were selected for further investigation based on their location within the protein as determined by PyMol. The results indicated that mutations, p.A179T and p.L183Q alter the protein stability and functional characteristics, which could potentially affect its function. In order to conduct a more in-depth analysis of these effects, a molecular dynamics simulation was performed for wildtype AKT2 and the two mutants (p.A179T and p.L183Q). The simulation evaluated various parameters, including temperature, pressure, density, RMSD, RMSF, SASA, and Region, over a period of 100 ps. According to the simulation results, the wildtype AKT2 protein demonstrated higher stability in comparison to the mutant variants. The mutations p.A179T and p.L183Q were found to cause a reduction in both protein stability and functionality. These findings underscore the significance of the effects of nsSNPs (mutations p.A179T and p.L183Q) on the structure and function of AKT2 that may lead to IR and T2D. Nevertheless, they require further verifications in future protein functional, protein-protein interaction, and large-scale case-control studies. When verified, these results will help in the identification and stratification of individuals who are at risk of IR and T2D for the purpose of prevention and treatment.
BACKGROUND:Traditional teaching methods of biochemistry provide effective tools for knowledge transmission, but are considered less engaging with students. Smartphone applications may provide suitable alternatives to compensate for the shortcomings of traditional teaching methods.PURPOSE:This study aimed to assess the effectiveness of smartphone applications as a complementary method for learning biochemistry.METHODOLOGY:A total of 32 students, from the College of Applied Medical Sciences, University of Bisha, Saudi Arabia, were recruited. Students used available mobile applications, and their performance was monitored through assignments, presentations, practical evaluations, and pre- and post-tests. A self-administered structured questionnaire was used to survey the students' perceptions. It was validated by students enrolled at the College of Applied Medical Science, interns, and medical educators. It was checked for item appropriateness and comprehensiveness using face and content validity.RESULTS:Around 75% of the students found the mobile applications useful in learning biochemistry, 50% believed that they were easy to use and 100% believed that the breadth of the knowledge presented by these applications was comprehensive. The pedagogical effect of the use of mobile applications in learning biochemistry showed statistically significant differences in student performances post-use and pre-use of mobile applications with P values of 0.000, 0.028, 0.023, and 0.000 for tests, assignments, practical evaluation, and presentations, respectively.CONCLUSION:Students have a positive perception of the use of mobile applications, as it has significantly improved their academic performance in biochemistry.
IntroductionThe implication of viral infection in alterations of vital cellular pathways and genomic integration and thus, human carcinogenesis is well documented in molecular epidemiology studies. EBV and CMV are two of the most studied human viruses for potential association with cancer risk, progression, and outcome. The contradicting reports as for the etiologic role of these viruses in breast cancer entailed the conduction of the current meta-analysisMaterial and methodsA thorough comprehensive electronic search was performed using PubMed, EMBASE, and Web of Science databases for relevant publications until February 28, 2021 based on predefined eligibility criteria. Extracted data from eligible studies were used to calculate the pooled effect size, heterogeneity, publication bias, sensitivity, and subgroup analyses for both viruses independently. Meta-analyses were performed using Prometa 3 software.ResultsFor EBV, a total of 19 studies were included, while 8 studies were included for CMV. A significantly high risk of breast cancer with EBV infection (OR = 5.04, 95%CI: 3.44 – 7.39, P < 0.05), a similar, though smaller risk with CMV (OR = 4.53, 95%CI: 2.04 – 10.03, P < 0.05). EBV studies in which viral genetic material was detected in fresh breast cancer tissue showed higher risk compared to studies relied upon FFPE specimen. Conversely, for CMV, the FFPE studies showed a higher risk compared to studies relying upon fresh breast cancer tissues.ConclusionsIt can be inferred that infection with either of the two viruses increases the risk of breast cancer, suggesting an etiologic role of these viruses in breast carcinogenesis.
Background The significant variations in clinical characteristics and outcomes of COVID 19 that range from asymptomatic to severe fatal illness entail searching for potential prognostic determinants to help predict the disease course and early detection of patients at risk of developing life-threatening complications. Although children are less commonly infected by SARS CoV 2 than their adult counterparts, and their symptoms are generally milder, a severe type of COVID-19 cannot be precluded. Methods At first, demographic, clinical, laboratory measurement data, and outcomes for 26 COVID 19 infected children of less than 12 years of age, admitted to King Abdallah Hospital, Bisha, Saudi Arabia, were retrieved from the electronic medical records for the observational retrospective study. Later, electronic and manual database searches were carried out for pediatric severe COVID 19 related articles. The relevant data from 20 eligible studies and the present retrospective study were analyzed to assess the association of demographic characteristics and comorbidities with COVID-19 severity. Results In the retrospective study, 5 (19%) of the children presented with severe symptoms admitted to PICU, 18 (69%) presented with cough, 5 (19%) with diarrhea, 7 (27%) with underlying comorbidities, 4 (15%) with respiratory illnesses, 3 (12%) with cardiovascular diseases and 2 (8%) were obese. None of the patient characteristics showed any significant association with COVID-19 severity. Of the 21 studies selected for meta-analyses, 14 studies were included in the analysis of the association between any comorbidity and disease severity, resulting in OR: 2.69, 95%CI: 1.38, 5.26, P < 0.05, for analysis of the association between cardiovascular comorbidities and disease severity 14 studies were included giving OR: 4.06, 95%CI: 1.86 , 8.87, P < 0.05, for analysis of the association between respiratory comorbidity and disease severity 15 studies were included giving OR: 2.05, 95%CI: 1.54 , 2.74, P < 0.05, for analysis of the association between obesity and disease severity 10 studies were included, giving OR: 2.48, 95%CI: 1.16 , 5.32, P < 0.05, for analysis of the association between age <10 years old and diseases severity, 16 studies were included, giving OR: 0.80, 95%CI: 0.65, 0.97, P < 0.05, and for analysis of the association between female gender and disease severity, 19 studies were included, giving OR: 0.83, 95%CI: 0.59, 1.18, P > 0.05. Conclusion It can be concluded that COVID-19 pediatric patients with underlying comorbidities, being cardiovascular, respiratory, or obesity, are at high risk of developing severe illness, and young age has a protective role against the disease severity.
The lack of effective treatment against the highly infectious SARS-CoV-2 has aggravated the already catastrophic global health issue. Here, in an attempt to design an efficient vaccine, a thorough immunoinformatics approach was followed to predict the most suitable viral proteins epitopes for building that vaccine. The amino acid sequences of four structural proteins (S, M, N, E) along with one potentially antigenic accessory protein (ORF1a) of SARS-CoV-2 were inspected for the most appropriate epitopes to be used for building the vaccine construct. Several immunoinformatics tools were used to assess the antigenicity (VaxiJen server), immunogenicity (IEDB immunogenicity tool), allergenicity (AlgPred), toxigenicity (ToxinPred server), interferon-gamma inducing capacity (IFNepitope server), and the physicochemical properties of the construct (ProtParam tool). The final candidate vaccine construct consisted of 468 amino acids, encompassing 29 epitopes. The CTL epitopes that passed the antigenicity, allergenicity, toxigenicity and immunogenicity assessment were four epitopes from S protein, one from M protein, two from N protein, 12 from the ORF1a polyprotein and none from E protein. While the HTL epitopes that passed the antigenicity, allergenicity, toxigenicity and INF- $$\gamma$$ were one from S protein, three from M protein, six from the ORF1a polyprotein and none from N and E proteins. All the vaccine properties and its ability to trigger the humoral and cell-mediated immune response were validated computationally. Molecular modeling, docking to TLR3, simulation, and molecular dynamics were also carried out. Finally, a molecular clone using pET28::mAID expression plasmid vector was prepared. The overall results of the study suggest that the final multi-epitope chimeric construct is a potential candidate for an efficient protective vaccine against SARS-CoV-2.
Background The significant public health risk posed by NiV zoonosis and the lack of effective countermeasures against the intermittent outbreaks of the disease in the South and Southeast Asia region have entailed an imperative search for a protective vaccine to prevent or mitigate its epidemic potentiality. This is an endeavor to design an effective, safe multisubunit vaccine using an in silico reverse vaccinology approach. Methods The epitopes used for the construction of the candidate vaccine were meticulously predicted from five viral structural proteins (G, F, M, N, P) using several immunoinformatics tools to assess different epitope characteristics, namely, VaxiJen server for antigenicity, IEDB immunogenicity tool for immunogenicity, AlgPred server for allergenicity, ToxinPred for toxigenicity, IFNepitope server for interferon-gamma induction, Protparam server for physicochemical properties, GROMACS for simulation and simulation dynamics analysis, and finally, SnapGene tool for molecular cloning. Results The proposed vaccine molecule consisted of 501 amino acids, encompassing 7 B cell epitopes, 14 CTL epitopes, and 4 HTL epitopes. The physiochemical parameters of the vaccine construct showed a molecular weight of 54.6 kDa, an acidic stable molecule with an instability index of 38.3, aliphatic index of 62.89, and grand average of hydropathicity of -0.476. Moreover, the docking results and simulation dynamics of the vaccine molecule and TLR-3 showed global energy of 1.58 Kcal/mol, atomic contact energy of 2.98 Kcal/mol, and RMSD of 0.65 nm. The radius gyration showed a relatively steady value throughout the simulation period. a suggestive result of a stable compact structure and a promisingly effective vaccine construct. Conclusion In summary, the overall results of the multi-subunit vaccine molecule are suggestive of a promisingly effective vaccine against NiV infection in humans with a relatively stable compact structure, however, further experimental validation and assessment of pathogenic priming and autoimmunity induction are recommended.
The prevalence of risk factors of chronic kidney disease in Saudi Arabia has augmented an already serious public health problem, therefore, determination of genetic variants associated with the risk of the disease presents potential screening tools that help reducing the incidence rates and promote effective disease management. The aim of the present study is to determine the association of UMOD and MYH9 genetic variants with the risk of non-diabetic end-stage renal disease (ESRD) in the Saudi population. Two single nucleotide polymorphisms (SNP), rs12917707 in gene UMOD and rs4821480 in gene MYH9 were genotyped in 154 non-diabetic ESRD Saudi patients and 123 age-matched healthy controls using Primers and Polymerase chain reaction conditions (PCR), Sanger sequencing, and TaqMan Pre-designed SNP Genotyping Assay. The association of these genetic variants with the risk of the disease and other renal function determinants was assessed using statistical tools such as logistic regression and One-way Analysis of Variance tests. The genotypic frequency of the two SNPs showed no deviation from Hardy-Weinberg equilibrium, the minor allele frequency of UMOD SNP was 0.13 and MYH9 SNP was 0.08. rs4821480 in MYH9 was significantly associated with the risk of non-diabetic ESRD (OR = 3.86; 95%CI: 1.38-10.82, P value .010), while, rs12917707 showed lack of significant association with the disease, P value .380. and neither of the 2 SNPs showed any association with the renal function determinants, serum albumin, and alkaline phosphatase enzyme.
Background:The dramatic increase in the prevalence of methicillin-resistantStaphylococcus aureusas a source of nosocomial and community-associated infections in Saudi Arabia has attracted the attention of many researchers and public health workers. Hence, the aim of this meta-analysis is to assess the extent of the problem in Saudi Arabia at large.Methodology:PubMed database was searched for articles about the prevalence of MRSA in Saudi Arabia, and the relevant data from all eligible studies were analyzed to assess the overall prevalence rate by ProMeta3.Results:Seven articles were included in this meta-analysis with the sample size of 8433 individual. The overall prevalence of MRSA was 38% (95% CI: 28 – 50). The prevalence of MRSA according to the region was 32% (95%CI: 21 – 46) for the central region and 42% (95% CI: 33 – 52) for the western region.Conclusion:The findings of this study indicate that the overall prevalence of MRSA in Saudi Arabia is relatively high, with the western region showing the highest prevalence rates, which necessitates the urgent implementation of preventive and educative strategies.
Background: Deep venous thrombosis (DVT) can lead to a serious fatal pulmonary embolism.Many genetic risk factors may predispose to DVT; one of these is the mutation in the PROCR gene responsible for the production of endothelial protein C receptor (EPCR), which plays an important role in activation of protein C (PC).The objective of the present study was to examine the association between the rs867186 and rs9574 polymorphism in the PROCR gene and the occurrence of DVT in Sudanese individuals.Methods: A total of 100 Sudanese DVT patients and 100 apparently healthy individuals were recruited for this study.Ethylene diamine tetraacetic acie (EDTA)-anticoagulated blood samples were collected from all participants.Genomic DNA was extracted and PROCR gene product was amplified by a standard ploymerase chain reaction (PCR) reaction.PCR products were sequenced to identify PROCR gene polymorphisms.Results: The frequency of mutated allele of rs867186 was significantly higher in the DVT patient (41%) than in healthy control (21%).The presence of mutated allele of rs867486 increases the risk of DVT 3 folds.There was no significant difference in the frequency of mutated allele of rs9574 polymorphism between the DVT patients and the healthy control subjects.Further, it does not show an increase in the risk of DVT.The adjustment of gender, ethnic group, and body mass index (BMI) does not change the significance of each single nucleotide polymorphism (SNP) as a risk factor for DVT.Conclusion: It can be concluded that Sudanese individuals carrying the mutated allele rs867186 polymorphism were at risk to develop DVT, while the mutated allele of rs9574 polymorphism is not a risk factor for DVT in Sudanese individuals.
Background: C-peptide is a by-product of insulin biosynthesis released in the circulation in amount equimolar with that of insulin; therefore C-peptide has been used as an index of insulin secretion and its potential role as a predictor of pancreatic and colorectal cancer and kidney disease have been questioned.The relation between C-peptide and diabetic complications attracted the attention of many investigators but not well established yet.The aim of the present study was to explore the relationship between the level of C-peptide and the diabetic microvascular complications in Sudanese patients.Patients and Methods: One hundred and eighty-one type 2 diabetic patients, 61% males and 39% females, aged more than 30 years were recruited from different Khartoum hospitals and studied cross-sectionally.Levels of blood C-peptide and HbA1C were measured with commercially available ELISA kit, and the diabetic complications were determined subjectively by experienced physicians.Results: Patients with no complications showed the highest prevalence 33.7% followed by peripheral neuropathy 33.1%, retinopathy 21.2% and finally nephropathy 11%.Both no-complications (9.05 ± 3.288) and retinopathy (9.10 ± 3.34) groups showed similar level of C-peptide, P value = 0.939.While nephropathy group (5.50 ± 3.73) and peripheral neuropathy (6.60 ± 3.02) showed significantly low levels as compared to that of no complication, P value = 0.000.On the other hand, level of HbA1C showed difference between retinopathy and nephropathy when compared to no complication group but not the peripheral neuropathy.Conclusion: The results of the present study suggest that the most prevalent diabetic complication in Sudanese patients is peripheral neuropathy, and the association between C-peptide and diabetic complications is more prominent with nephropathy and peripheral neuropathy rather than retinopathy.
Background: Deep vein thrombosis (DVT) may lead to serious complication; the pulmonary embolism; one of the most serious conditions that cause morbidity and mortality worldwide.sEPCR circulates in the plasma and has high affinity to bind protein C and activated protein C (APC).This binding interferes with the anticoagulant function of APC and results in increased risk for DVT.The aim of this study is to explore the role of sEPCR as a risk factor for DVT in Sudanese individuals.Methods: A total of 100 Sudanese DVT patients and 100 apparently healthy individuals were recruited for this study.EDTA-anticoagulated venous blood samples were collected from all participants.Plasma sEPCR levels were measured by enzyme linked immunosorbent Assay (ELISA).All results were analyzed using SPSS.Results: The plasma level of sEPCR was higher in DVT group than in healthy individuals, while male patients showed higher level when compared to females.Age correlates positively with sEPCR, whilst BMI and ethnicity showed no effect on the level of sEPCR.Individuals in the top quartiles of showed to increased risk of DVT when compared to those in the lower quartile.Conclusion: It can be concluded that elevated sEPCR level increases the risk to develop DVT in Sudanese.The level of the soluble receptor is influenced by the gender of individual more than by his/her ethnicity or body mass index.Results are also indicative of a much higher risk in those with sEPCR level more than 120 ng/ml when compared to those with lower levels.