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We use a general transformation, to find exact solutions for the Manakov system with variable coefficients (depending on the time ε\varepsilon ) using an improved tanh–coth method. The solutions obtained in this work are more general compared to those in other works because they involve variable coefficients. The implemented computational method is applied in a direct way on the reduced system, avoid in this way the reduction to only one equation, as occurs in the works respect to exact solutions, made by other authors. Clearly, from the solutions obtained here, new solutions are derived for the standard model (constant coefficients), complementing in this way the results obtained by other authors mentioned here. Finally, we give some discussion on the results and give the respective conclusions.

Shahad Bawazeer,1 Maha Alshalan,2 Aziza Alkhaldi,3 Nasser AlAtwi,3 Mohammed AlBalwi,1,3,4 Abdulrahman Alswaid,2 Majid Alfadhel,1,2,4 1Developmental Medicine Department, King Abdullah International Medical Research Center, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; 2Department of Pediatrics, Genetic Division, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; 3Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; 4King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia Abstract: Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. It is characterized mainly by developmental delays, cognitive impairment, hypotonia, typical dysmorphic features, and other anomalies. Herein, we report de novo tetrasomy 18p in a 9-month-old boy with dysmorphic features, microcephaly, growth delay, hypotonia, and cerebellar and renal malformations. We compared our case with previously reported ones in the literature. Clinicians should consider tetrasomy 18p in any individual with dysmorphic features and cardiac, skeletal, and renal abnormalities. To the best of our knowledge, we report for the first time an association of this syndrome with partial agenesis of cerebellar vermis. Keywords: tetrasomy 18p, chromosomal, isochromosome, 18p, dysmorphic, CGH microarray, chromosome, syndrome

The diverse use of heat and mass transport mechanisms on three-dimensional rotating systems has been discovered to improve the efficiency of several physiological and industrial processes. These include, for example, fiber technology, the process of extrusion, and polymer extraction. The purpose of this dissertation is to investigate the transportation of mass and heat in the flow of non-Newtonian fluid processing vortex viscosity and micro-inertial features along two horizontal plates in a rotating scenario. The thermal transport process is influenced by physical parameters such as irregular heat generation/absorption rate, linear radiative heat flow, variable thermal conductivity, and mass diffusion with cubic autolysis chemical reaction. After enforcing conservation laws, a simple constitutive equations are modelled in a rotating system. The mathematical formulation is converted into a dimensionless format by applying comparable variables. The bvp4c process is used to execute numerical experiments to arrive at the numerical solution for the governing problem. Through sketching, the related distribution (velocity, micro rotation, velocity, and concentration) is presented concerning the various parameters. Tabular data provides insights into relevant quantities against different parameters. The credibility of computed results is assumed by agreeing with previous studies. [ABSTRACT FROM AUTHOR]

This study examines Titania nanofluids that conduct electricity and are combined with various base fluids, focusing on various aspects. A magnetic field analyzes a continuous flow of nanofluid over a rotating disk that is positioned at an angle with a three-dimensional geometry assumption. The continuity, momentum, and energy balance equations are established, transformed using similarity variables, and solved through Akbari–Ganji Method (AGM) and Homotopy Perturbation Method (HPM) semi-analytical methods. The effects of several parameters, such as Magnetic parameter (M), Hall parameter (m), Porosity parameter (γ), Radiation parameter (Rd), and Thickness of liquid (δ), are examined through a graphical representation of state variables, including skin friction and Nusselt number. Additionally, the Response Surface Method (RSM) method has been utilized to simultaneously display the effects of porosity parameters and various factors across the disk. The findings showed that the magnetic, porosity, Hall, and thickness parameters had a significant impact on the behavior of the nanofluid. Specifically, the magnetic field had a strong influence on the velocity and temperature distribution of the fluid as it flowed over the rotating disk, while changes in porosity, Hall, and thickness parameters also affected these state variables. [ABSTRACT FROM AUTHOR]

In recent decades, because of the speedy progress of the smart grid and the deepening of the reforms of the energy system, demand-side users can contribute to the collaboration of the energy network, with the main right to public energy procurement and the main right to sell energy. The demand side of the smart grid and the open energy market provides users with more adoptions, and game theory is expected to become an important tool for optimizing multi-stakeholder decision-making and solving many problems in this area. In this regard, this review article first reviews the recent development of game theory application in modern power systems, in addition to discussing in detail the typical gaming behavior of the current energy demand side. Second, it focuses on the application of game theory mainly in three aspects: distributed energy users, high-energy energy users, and medium- and low-energy users. Game theory is used in optimizing the distributed energy coordination, optimizing the energy purchasing strategy, responding to the needs of commercial and residential users, and ensuring network communication. Later, a comprehensive analysis of recent trends in game theory application in power systems is carried out in detail. [ABSTRACT FROM AUTHOR]

Monkeypox is a highly infectious disease and spreads very easily, hence posing several health concerns or risks as it may lead to outbreak. This article proposes a new mathematical model to simulate the transmission rate of the monkeypox virus-infected fractional-order differential equations using the Caputo–Fabrizio derivative. The existence, uniqueness, and stability under contraction mapping of the fixed point of the model are discussed using Krasnoselskii’s and Banach’s fixed point theorems. To verify the model proposed, we employ data that record the actual dynamics, and based on these data, the model can capture the observed transmission patterns in Ghana. Also, the analytic algorithm is used to find the result applying the Laplace Adomian decomposition method (LADM). Performance analysis of LADM is made regarding Runge-Kutta fourth order, which is the most commonly employed method for solving second-order ordinary differential equations. This comparison therefore offers information on the truth and reliability of the two techniques toward modeling the transmission pattern of the monkey pox virus. The information obtained through this study provides a better understanding of the antibodies linked to monkeypox virus spreading and provides effective strategies to doctors and politicians. This article helps shape better strategies about combating the impact of monkeypox virus in public health since it makes it easy to predict and prevent the occurrence of the disease.

The flow of a fluid over isolated topography in the long wavelength, weakly nonlinear limit is considered. The upstream flow velocity is assumed to be close to a linear long wave velocity of the unforced flow so that the flow is near resonant. Higher order nonlinear, dispersive and nonlinear-dispersive terms beyond the Korteweg-de Vries approximation are included so that the flow is governed by a forced extended Korteweg-de Vries equation. Modulation theory solutions for the undular bores generated upstream and downstream of the forcing are found and used to study the influence of the higher-order terms on the resonant flow, which increases for steeper waves. These modulation theory solutions are compared with numerical solutions of the forced extended Korteweg-de Vries equation for the case of surface water waves. Good comparison is obtained between theoretical and numerical solutions, for properties such as the upstream and downstream solitary wave amplitudes and the widths of the bores. [ABSTRACT FROM AUTHOR]

AbstractThe main aim of this study is to investigate the behavior of bio-convective flow of 2nd grade micropolar nanofluid with Darcy-Forchheimer law over a curved porous stretching surface. The fluid flow analysis includes novel aspects such as the nonuniform heat source/sink, Joule heating, magnetic field, chemical reaction, and thermal radiation. Furthermore, the boundary of the stretching surface is acquired the stratification conditions. A suitable conversion method is employed to transform the flow model into a collection of ordinary differential equations, characterized by their nonlinearity. The bvp4c technique on the MATLAB is utilized to acquire numerical solutions for this set of nonlinear equations. The characteristics of various influential parameters on the velocity, temperature, concentration, and microorganism density profiles are observed and discussed. In the present problem, it is observed that by the growth of micropolar parameter enhances the angular fluid velocity. Moreover, larger values of the magnetic parameter, Darcy number, and porosity parameter result in a decrease in the fluid’s linear velocity. The temperature profile exhibits a decreasing pattern with the elevation thermal stratification parameter, while the opposite trend shows by the increment of the radiation parameter and Eckert number. Additionally, the concentration of nanoparticles decreases as the Schmidt number and Brownian motion parameter increases. [ABSTRACT FROM AUTHOR]

Abstract Background Prader-Willi syndrome (MIM #176270; PWS) is caused by lack of the paternally-derived copies, or their expression, of multiple genes in a 4 Mb region on chromosome 15q11.2. Known mechanisms include large deletions, maternal uniparental disomy or mutations involving the imprinting center. De novo balanced reciprocal translocations in 5 reported individuals had breakpoints clustering in SNRPN intron 2 or exon 20/intron 20. To further dissect the PWS phenotype and define the minimal critical region for PWS features, we have studied a 22 year old male with a milder PWS phenotype and a de novo translocation t(4;15)(q27;q11.2). Methods We used metaphase FISH to narrow the breakpoint region and molecular analyses to map the breakpoints on both chromosomes at the nucleotide level. The expression of genes on chromosome 15 on both sides of the breakpoint was determined by RT-PCR analyses. Results Pertinent clinical features include neonatal hypotonia with feeding difficulties, hypogonadism, short stature, late-onset obesity, learning difficulties, abnormal social behavior and marked tolerance to pain, as well as sticky saliva and narcolepsy. Relative macrocephaly and facial features are not typical for PWS. The translocation breakpoints were identified within SNRPN intron 17 and intron 10 of a spliced non-coding transcript in band 4q27. LINE and SINE sequences at the exchange points may have contributed to the translocation event. By RT-PCR of lymphoblasts and fibroblasts, we find that upstream SNURF/SNRPN exons and snoRNAs HBII-437 and HBII-13 are expressed, but the downstream snoRNAs PWCR1/HBII-85 and HBII-438A/B snoRNAs are not. Conclusion As part of the PWCR1/HBII-85 snoRNA cluster is highly conserved between human and mice, while no copy of HBII-438 has been found in mouse, we conclude that PWCR1/HBII-85 snoRNAs is likely to play a major role in the PWS- phenotype.

Background: Helsmoortel-Van der Aa syndrome was officially documented in 2014. Helsmoortel-Van der Aa syndrome is an extremely rare complex neurodegenerative disorder characterized by reduced intellectual capacity, motor dysfunction, facial dysmorphism, impaired development, and an increased predisposition to autism spectrum disorder. In addition, many patients also present with neuropsychiatric disorders, including attention deficit hyperactivity disorder, anxiety disorders, and various behavioral abnormalities. Helsmoortel-Van der Aa syndrome is challenging to identify solely on the basis of symptoms, and genetic investigations, including exome sequencing, may facilitate diagnosis., Case Presentation: We report a case of 13-year-old Saudi patient who presented with dysmorphic features as illustrated in Fig. 1, severe mental retardation, autism spectrum disorder, and attention deficit hyperactivity disorder. Initial genetic testing was unremarkable; thus, a clinical exome analysis was performed to identify the genetic basis of the condition., Conclusions: Clinical exome analysis indicated an autosomal dominant Helsmoortel-Van der Aa syndrome with a likely pathogenic de novo variant within the activity-dependent neuroprotector homeobox (ADNP) gene not previously reported in Helsmoortel-Van der Aa syndrome. The patient had a right-sided solitary kidney and polycystic ovaries, conditions that were not previously associated with HVDAS., (© 2024. The Author(s).)

Background: Warfarin is an oral anticoagulant commonly used for treatment and prophylaxis against thromboembolic events. Warfarins's narrow therapeutic index window is one of the main challenges in clinical practice; thus, it requires frequent monitoring and dose adjustment to maintain patients' therapeutic range. Warfarin dose variation and response are attributed to several inter-and intra-individuals factors, including genetic variants in enzymes involved in warfarin pharmacokinetics (PK) and pharmacodynamics (PD) pathways. Thus, we aim to utilize the next-generation sequencing (NGS) approach to identify rare and common genetic variants that might be associated with warfarin responsiveness., Method and Results: A predesigned NGS panel that included 16 genes involved in Warfarin PK/PD pathways was used to sequence 786 patients from the Saudi Warfarin Pharmacogenetic Cohort (SWAP). Identified variants were annotated using several annotation tools to identify the pathogenicity and allele frequencies of these variants. We conducted variants-level association tests with warfarin dose. We identified 710 variants within the sequenced genes; 19% were novel variants, with the vast majority being scarce variants. The genetic association tests showed that VKORC1 (rs9923231, and rs61742245), CYP2C9 (rs98332238, rs9332172, rs1057910, rs9332230, rs1799853, rs1057911, and rs9332119), CYP2C19 (rs28399511, and rs3758581), and CYP2C8 (rs11572080 and rs10509681) were significantly associated with warfarin weekly dose. Our model included genetics, and non-genetic factors explained 40.1% of warfarin dose variation., Conclusion: The study identifies novel variants associated with warfarin dose in the Saudi population. These variants are more likely to be population-specific variants, suggesting that population-specific studies should be conducted before adopting a universal warfarin genotype-guided dosing algorithm., (© 2023. The Author(s), under exclusive licence to Springer Nature Limited.)

In this study we isolated and enriched erythroid progenitor cells (EPCs) from a 10 ml peripheral blood sample from a 37-year old healthy Saudi donor. After expansion, these EPCs were reprogrammed using episomal plasmids to generate an induced pluripotent stem (iPS) cell line, KAIMRCi001-A. The pluripotency of this line was confirmed by measuring the expression of typical pluripotency markers and assessing differentiation potential in vitro., (Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.)

Background: Testing strategies is crucial for genetics clinics and testing laboratories. In this study, we tried to compare the hit rate between solo and trio and trio plus testing and between trio and sibship testing. Finally, we studied the impact of extended family analysis, mainly in complex and unsolved cases., Methods: Three cohorts were used for this analysis: one cohort to assess the hit rate between solo, trio and trio plus testing, another cohort to examine the impact of the testing strategy of sibship genome vs trio-based analysis, and a third cohort to test the impact of an extended family analysis of up to eight family members to lower the number of candidate variants., Results: The hit rates in solo, trio and trio plus testing were 39, 40, and 41%, respectively. The total number of candidate variants in the sibship testing strategy was 117 variants compared to 59 variants in the trio-based analysis. We noticed that the average number of coding candidate variants in trio-based analysis was 1192 variants and 26,454 noncoding variants, and this number was lowered by 50-75% after adding additional family members, with up to two coding and 66 noncoding homozygous variants only, in families with eight family members., Conclusion: There was no difference in the hit rate between solo and extended family members. Trio-based analysis was a better approach than sibship testing, even in a consanguineous population. Finally, each additional family member helped to narrow down the number of variants by 50-75%. Our findings could help clinicians, researchers and testing laboratories select the most cost-effective and appropriate sequencing approach for their patients. Furthermore, using extended family analysis is a very useful tool for complex cases with novel genes.

Warfarin is a frequently prescribed oral anticoagulant with a narrow therapeutic index, requiring careful dosing and monitoring. However, patients respond with significant inter-individual variability in terms of the dose and responsiveness of warfarin, attributed to genetic polymorphisms within the genes responsible for the pharmacokinetics and pharmacodynamics of warfarin. Extensive warfarin pharmacogenetic studies have been conducted, including studies resulting in genotype-guided dosing guidelines, but few large scale studies have been conducted with the Saudi population. In this study, we report the study design and baseline characteristics of the Saudi WArfarin Pharmacogenomics (SWAP) cohort, as well as the association of the VKORC1 promoter variants with the warfarin dose and the time to a stable INR. In the 936 Saudi patients recruited in the SWAP study, the minor allele C of rs9923231 was significantly associated with a 8.45 mg higher weekly warfarin dose (p value = 4.0 × 10 -46 ), as well as with a significant delay in achieving a stable INR level. The addition of the rs9923231 status to the model, containing all the significant clinical variables, doubled the warfarin dose explained variance to 31%. The SWAP cohort represents a valuable resource for future research with the objective of identifying rare and prevalent genetic variants, which can be incorporated in personalized anticoagulation therapy for the Saudi population.

Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder mostly presented in children. The disorder is described as having subacute encephalopathy with confusion, dystonia, and dysarthria triggered by febrile illness that leads to neuroregression and death if untreated. Using biotin and thiamine at an early stage of the disease can lead to significant improvement., Methods: BTBGD is a treatable disease if diagnosed at an early age and has been frequently reported in Saudi population. Keeping this in mind, the current study screened 3000 Saudi newborns for the SLC19A3 gene mutations using target sequencing, aiming to determine the carrier frequency in Saudi Population and whether BTBGD is a good candidate to be included in the newborn-screened disorders., Results: Using targeted gene sequencing, DNA from 3000 newborns Saudi was screened for the SLC19A3 gene mutations using standard methods. Screening of the SLC19A3 gene revealed a previously reported heterozygous missense mutation (c.1264A>G (p.Thr422Ala) in six unrelated newborns. No probands having homozygous pathogenic mutations were found in the studied cohort. The variant has been frequently reported previously in homozygous state in Saudi population, making it a hot spot mutation. The current study showed that the carrier frequency of SLC19A3 gene mutation is 1 of 500 in Saudi newborns., Conclusion: For the first time in the literature, we determined the carrier frequency of SLC19A3 gene mutation in Saudi population. The estimated prevalence is too rare in Saudi population (at least one in million); therefore, the data are not in favor of including such very rare disorders in newborn screening program at population level. However, a larger cohort is needed for a more accurate estimate., (© 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.)

Purpose: Whole-exome sequencing (WES) and whole-genome sequencing (WGS) are used to diagnose genetic and inherited disorders. However, few studies comparing the detection rates of WES and WGS in clinical settings have been performed., Methods: Variant call format files were generated and raw data analysis was performed in cases in which the final molecular results showed discrepancies. We classified the possible explanations for the discrepancies into three categories: the time interval between the two tests, the technical limitations of WES, and the impact of the sequencing system type., Results: This cohort comprised 108 patients with negative array comparative genomic hybridization and negative or inconclusive WES results before WGS was performed. Ten (9%) patients had positive WGS results. However, after reanalysis the WGS hit rate decreased to 7% (7 cases). In four cases the variants were identified by WES but missed for different reasons. Only 3 cases (3%) were positive by WGS but completely unidentified by WES., Conclusion: In this study, we showed that 30% of the positive cases identified by WGS could be identified by reanalyzing the WES raw data, and WGS achieved an only 7% higher detection rate. Therefore, until the cost of WGS approximates that of WES, reanalyzing WES raw data is recommended before performing WGS.

Background: Hepatitis C virus (HCV) genotypes and subtypes are considered an important tool for epidemiological and clinical studies and valuable markers for disease progression and response to antiviral therapy. The aim of this study was to identify the prevalence of HCV genotypes and their relation to socio-demographic factors particularly age and sex, various biochemical profiles and viral load., Methods: The records (630) of Saudi patients positive for HCV (2007-2011) reported in the system of the Molecular Pathology Laboratory at a tertiary reference hospital in Riyadh, Saudi Arabia were analyzed. Socio-demographic characteristics, liver biochemical profile, viral load and co-infection with HBV and HIV were retrieved from the hospital database. The associations of continuous and categorical variables with genotypes were analyzed., Result: The overall mean age of the surveyed patients was 59 years ±0.5 years (21% were <50 years (p = 0.02). The rate of infection is lower in males than in females (47.6% vs. 52.4%). HCV genotype 4 was the most prevalent (60.7%), followed by genotype 1 (24.8%). However, genotype 1 and 3 were found more in males (29.7% vs. 20.3% and 6% vs. 2.1%, respectively, p = 0.001), while genotype 2 and 4 were more among females (4.8% vs. 2% and 68.5% vs. 52.3%, respectively). In addition, genotype 1 was found dominant in younger males (33.8%). Biochemical parameters across gender showed significant variation in particular for the ALT (p = 0.007). The mean viral load was significantly higher in genotype 1 than genotype 4 (4,757,532 vs. 1,435,012, p = <001). There is a very low overall percentage of co-infection of HBV or HIV in this study (around 2% for each)., Conclusion: Although HCV genotype 4 shows an overall high prevalence in this study, a clear decline in the rate of this genotype was also demonstrated in particular among the younger age group who displayed increasing trends toward the global trend of genotype 1, rather than genotype 4. This finding would be of clinical interest in relation to future planning of the therapy for HCV infected patient.

Background: The use of cord blood in the neonatal screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency is being done with increasing frequency but has yet to be adequately evaluated against the use of peripheral blood sample which is usually employed for confirmation. We sought to determine the incidence and gender distribution of G6PD deficiency, and compare the results of cord against peripheral blood in identifying G6PD DEFICIENCY neonates using quantitative enzyme activity assay., Methods: We carried out a retrospective and cross-sectional study employing review of primary hospital data of neonates born in a tertiary care center from January to December 2008., Results: Among the 8139 neonates with cord blood G6PD assays, an overall incidence of 2% for G6PD deficiency was computed. 79% of these were males and 21% were females with significantly more deficient males (p < .001). Gender-specific incidence was 3.06% for males and 0.85% for females. A subgroup analysis comparing cord and peripheral blood samples (n = 1253) showed a significantly higher mean G6PD value for peripheral than cord blood (15.12 ± 4.52 U/g and 14.52 ± 4.43 U/g, respectively, p = 0.0008). However, the proportion of G6PD deficient neonates did not significantly differ in the two groups (p = 0.79). Sensitivity of cord blood in screening for G6PD deficiency, using peripheral G6PD assay as a gold standard was 98.6% with a NPV of 99.5%., Conclusion: There was no difference between cord and peripheral blood samples in discriminating between G6PD deficient and non-deficient neonates. A significantly higher mean peripheral G6PD assay reinforces the use of cord blood for neonatal screening since it has substantially low false negative results.

B-cells of the high-grade non-Hodgkin lymphoma Burkitt's lymphoma (BL) overexpress survival oncoproteins, including the proviral integration site for Moloney murine leukaemia virus kinase (Pim)-1, and become apoptosis resistant. Activated death receptor CD95 after ligation with anti-CD95 monoclonal antibody (mAb) resulted in the regression of BL via induction of apoptosis, suggesting a decrease of survival protein expression. Here, CD95-mediated apoptotic pathways in BL B-cell lines (Raji and Daudi) following treatment with anti-CD95 mAb was investigated with the cause-and-effects on pim-1 gene expression, in comparison with leukemic cell line (K562) used as CD95-negative cells. Immunohistochemical staining for CD95 and Pim-1 was performed, and the effects of anti-CD95 mAb on apoptotic signalling using western blotting, on caspase activity and cell survival of BL B-cell and leukemic cell lines were determined. We showed that Raji cells expressed more CD95 receptors than Daudi cells. Half of each population underwent apoptosis accompanied by decreased cell viability after anti-CD95 mAb treatment. Distinct extrinsic and intrinsic CD95-mediated apoptotic pathways in Raji and Daudi cells were revealed by high caspase activity and mitochondrial outer membrane permeabilization, respectively. We observed decreased Pim-1 transcript and protein expression levels with increased heat-shock protein (Hsp)70 and decreased Hsp90 expression in anti-CD95 mAb-treated cells. Throughout the study, K562 cells did not undergo apoptosis upon anti-CD95 mAb treatment. Pim-1 knockdown following to stable transfection with plasmid vectors induced apoptosis and decreased viability of BL and K562 cells. Therefore, CD95-mediated apoptosis induces Pim-1 down-regulation in BL B-cells, but Pim-1 down-regulation cannot fully eradicate BL and leukaemia., (Copyright © 2016 Elsevier B.V. All rights reserved.)