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Molecular genetics of human primary microcephaly: an overview

Muhammad Faheem, Muhammad Imran Naseer, Mahmood Rasool, Adeel G Chaudhary, Taha A Kumosani, Asad Muhammad Ilyas, Peter Natesan Pushparaj, Farid Ahmed, Hussain A Algahtani, Mohammad H Al-Qahtani, Hasan Saleh Jamal
2015 BMC Medical Genomics  
Three CDK5RAP2 mutations (two in Pakistani families; one in a Somalian patient) have been described; 1: a nonsense mutation in exon 4 (246T>A); 2: the A to G transition in intron 26 (4005-15A>G) produces  ...  gene is composed of 40,672 bp with a 5,187 bp ORF [46] and 17 exons, which encode a protein of 1,338 amino acids; it contains 5 coiled-coiled domains, many protein phosphorylation sites, 21 nonamer G-box  ... 
doi:10.1186/1755-8794-8-s1-s4 pmid:25951892 pmcid:PMC4315316 fatcat:zlhvh4qssfh73cgjr7rqclwwey

Edited1H magnetic resonance spectroscopy in vivo: Methods and metabolites

Ashley D. Harris, Muhammad G. Saleh, Richard A.E. Edden
2017 Magnetic Resonance in Medicine  
G. Polarization transfer: First, signals in the spectral range of interest are pre-saturated (PRESAT).  ... 
doi:10.1002/mrm.26619 pmid:28150876 pmcid:PMC5352552 fatcat:fic2u6mcjjb5thrrapzs6txclq

Osprey: Open-Source Processing, Reconstruction & Estimation of Magnetic Resonance Spectroscopy Data [article]

Georg Oeltzschner, Helge J. Zoellner, Steve C. N. Hui, Mark Mikkelsen, Muhammad G. Saleh, Sofie Tapper, Richard A. E. Edden
2020 bioRxiv   pre-print
Parameters that differed from the MEGA-PRESS parameters included: TE = 80 ms; 20-ms editing pulses applied in the GABA/GSH HERMES scheme (Saleh et al., 2016) .  ...  Recently, the MRS community has led efforts to converge towards standardized data acquisition (Deelchand et al., 24 2019a; Öz et al., 2020; Saleh et al., 2019; Wilson et al., 2019) .  ... 
doi:10.1101/2020.02.12.944207 fatcat:cb6wekhlyfetfh3a5sz24dohta

Simultaneous edited MRS of GABA and glutathione

Muhammad G. Saleh, Georg Oeltzschner, Kimberly L. Chan, Nicolaas A.J. Puts, Mark Mikkelsen, Michael Schär, Ashley D. Harris, Richard A.E. Edden
2016 NeuroImage  
Phantom HERMES Three phantoms were prepared in phosphate-buffered saline (with 1.5 g/l NaN 3 ) with: 4mM GSH; 4mM GSH and 4 mM GABA; and 10 mM GABA.  ... 
doi:10.1016/j.neuroimage.2016.07.056 pmid:27534734 pmcid:PMC5159266 fatcat:37qydj276jga5nujc5spzh66im

Excitatory inhibitory imbalance underlies hippocampal atrophy in individuals with 22q11.2 Deletion Syndrome with psychotic symptoms [article]

Valentina Mancini, Muhammad G. Saleh, Farnaz Delavari, Joëlle Bagautdinova, Stephan Eliez
2022 medRxiv   pre-print
AbstractBackgroundAbnormal neurotransmitter levels have been reported in subjects at high risk for schizophrenia, leading to a shift in the excitatory/inhibitory balance. However, it is unclear if these alterations are predating the onset of clinically relevant symptoms. Our aim was to explore in vivo measures of excitatory/inhibitory balance in 22q11.2 deletion carriers, a population at high genetic risk for psychosis.MethodsGlx (glutamate + glutamine) and GABA+ concentrations were estimated
more » ... the anterior cingulate cortex (ACC), superior temporal gyrus (STG) and hippocampus using a MEGAPRESS sequence and the Gannet toolbox in 52 deletion carriers and 42 controls. T1-weighted images were acquired longitudinally and processed with Freesurfer v.6.0 to extract hippocampal volume. Subgroup analyses were conducted in deletion carriers with psychotic symptoms identified by means of SIPS.ResultsWhile no differences were found in the ACC, deletion carriers had higher levels of Glx in the hippocampus and STG, and lower levels of GABA+ in the hippocampus compared to controls. We additionally found a higher Glx concentration in the hippocampus of psychotic compared to non-psychotic deletion carriers. Finally, more pronounced hippocampal atrophy and increased functional variability were both significantly associated with increased Glx levels in deletion carriers.ConclusionsThis study provides evidence for an excitatory/inhibitory imbalance in temporal brain structures of deletion carriers, with a further hippocampal Glx increase in individuals with psychotic symptoms that was associated with hippocampal atrophy and abnormal function. These results support theories proposing abnormally enhanced glutamatergic neural transmission as a mechanistic explanation for hippocampal atrophy via excitotoxicity. Overall, our results highlight a central role of glutamate in the hippocampus of individuals at genetic risk for schizophrenia.
doi:10.1101/2022.09.06.22279580 fatcat:tgk7mlo4v5dsje5a4ea7wstawm

Simultaneous measurement of Aspartate, NAA, and NAAG using HERMES spectral editing at 3 Tesla

Kimberly L. Chan, Muhammad G. Saleh, Georg Oeltzschner, Peter B. Barker, Richard A.E. Edden
2017 NeuroImage  
It has previously been shown that the HERMES method ('Hadamard Encoding and Reconstruction of MEGA-Edited Spectroscopy') can be used to simultaneously edit pairs of metabolites (such as N-acetyl-aspartate (NAA) and N-acetyl aspartyl glutamate (NAAG), or glutathione and GABA). In this study, HERMES is extended for the simultaneous editing of three overlapping signals, and illustrated for the example of NAA, NAAG and Aspartate (Asp). Density-matrix simulations were performed in order to optimize
more » ... he HERMES sequence. The method was tested in NAA and Asp phantoms, and applied to the centrum semiovale of the nine healthy control subjects that were scanned at 3T. Both simulations and phantom experiments showed similar metabolite multiplet patterns with good segregation of all three metabolites. In vivo measurements show consistent relative signal intensities and multiplet patterns with concentrations in agreement with literature values. Simulations indicate co-editing of glutathione, glutamine, and glutamate, but their signals do not significantly overlap with the detected aspartyl resonances. This study demonstrates that a four-step Hadamard-encoded editing scheme can be used to simultaneously edit three otherwise overlapping metabolites, and can measure NAA, NAAG, and Asp in vivo in the brain at 3T with minimal crosstalk.
doi:10.1016/j.neuroimage.2017.04.043 pmid:28438664 pmcid:PMC5511573 fatcat:oll3q676efd3rhrnpdsaebmxhq

State-of-the-Art Antenna Technology for Cloud Radio Access Networks (C-RANs) [chapter]

Waleed Tariq Sethi, Abdullah Alfakhri, Muhammad Ahmad Ashraf, Amr G. Alasaad, Saleh Alshebeili
2017 Cloud Computing - Architecture and Applications  
Parameter W L H f L f l g W 0 W g r 1 Value ( Cloud Computing -Architecture and Applications element over a cylindrical surface.  ...  The tapered curve C g is defined as C g = W y − 1 + 0.1 W y e α W x (1) where α is the rate of transition for the exponential curve defined as follows: α = 1 ______ 1.92 W x ln ( W y + 0.1 W t ________  ...  Author details Waleed Tariq Sethi 1 , Abdullah Alfakhri 2 , Muhammad Ahmad Ashraf 1 *, Amr G.  ... 
doi:10.5772/67352 fatcat:kc3t2pxmqjb4zaizprxilnc6su

Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia

Muhammad Imran Naseer, Muhammad Faheem, Adeel G Chaudhary, Taha A Kumosani, Maha Mohsin Al-Quaiti, Mohammed M Jan, Hasan Saleh Jamal, Mohammad H Al-Qahtani
2015 BMC Genomics  
Epilepsy is genetically complex neurological disorder affecting millions of people of different age groups varying in its type and severity. Copy number variants (CNVs) are key players in the genetic etiology of numerous neurodevelopmental disorders and prior findings also revealed that chromosomal aberrations are more susceptible against the pathogenesis of epilepsy. Novel technologies, such as array comparative genomic hybridization (array-CGH), may help to uncover the pathogenic CNVs in
more » ... nts with epilepsy. Results: This study was carried out by high density whole genome array-CGH analysis with blood DNA samples from a cohort of 22 epilepsy patients to search for CNVs associated with epilepsy. Pathogenic rearrangements which include 6p12.1 microduplications in 5 patients covering a total region of 99.9kb and 7q32.3 microdeletions in 3 patients covering a total region of 63.9kb were detected. Two genes BMP5 and PODXL were located in the predicted duplicated and deleted regions respectively. Furthermore, these CNV findings were confirmed by qPCR. Conclusion: We have described, for the first time, several novel CNVs/genes implicated in epilepsy in the Saudi population. These findings enable us to better describe the genetic variations in epilepsy, and could provide a foundation for understanding the critical regions of the genome which might be involved in the development of epilepsy.
doi:10.1186/1471-2164-16-s1-s10 pmid:25923336 pmcid:PMC4315149 fatcat:rhw5coh5lfcmjglgvsrp632ske

Advanced Hadamard-encoded editing of seven low-concentration brain metabolites: Principles of HERCULES

Georg Oeltzschner, Muhammad G. Saleh, Daniel Rimbault, Mark Mikkelsen, Kimberly L. Chan, Nicolaas A.J. Puts, Richard A.E. Edden
2019 NeuroImage  
et al., 2018 (Saleh et al., , 2016)) , macromolecule-suppressed GABA/GSH , and NAA/NAAG/Asp (Chan et al., 2016a; .  ...  For validation purposes, GABA/GSH HERMES (Saleh et al., 2016) data were acquired in a white-matter voxel in one subject.  ... 
doi:10.1016/j.neuroimage.2018.10.002 pmid:30296560 pmcid:PMC6289748 fatcat:w7k2em3h3nbfhatnyyj2twzj6a

RENEWABLE ENERGY USE AND ITS EFFECTS ON ENVIRONMENT AND ECONOMIC GROWTH: EVIDENCE FROM MALAYSIA

Muhammad Raza, Ahmed E. Ahmed, Ali Saleh Alshebami, Aleksandra G. Polyakova
2020 International Journal of Energy Economics and Policy  
The purpose of this study was to analyse the impact of renewable energy use in Malaysia on the environment and economic growth and directing study findings to stimulate developing economies in Arab region to evaluate its economic returns from renewable energy uses. In this study, a set of time series data has been used which is ranging from the year 1989 to 2018. Moreover, the stationary of the data was tested through Augmented-Dickey Fuller (ADF) test. The normality test of the data
more » ... n was also conducted with the help of Jarque Bera test. In addition to the methods, due to the existence of unit roots, an ARDL technique was also incorporated which tested the influence of renewable energy use on the growth and environment of Malaysia. The findings of the study imply that the renewable sources usage in Malaysia was found to have a positive and significant relation on the CO 2 emissions in the case of Malaysia. Furthermore, the findings of the study also suggested that there is no significant relation between renewable energy use and GDP. Also, it was identified that there was no long-run influence in the variables and hence a short-run influences were recognised.
doi:10.32479/ijeep.10219 fatcat:ahcw2edl4bge3khnoyr7scv7ki

Effect of atorvastatin on the gut microbiota of high fat diet-induced hypercholesterolemic rats

Tariq Jamal Khan, Youssri M. Ahmed, Mazin A. Zamzami, Saleh A. Mohamed, Imran Khan, Othman A. S. Baothman, Mohamed G. Mehanna, Muhammad Yasir
2018 Scientific Reports  
GM-produced SCFAs are associated with increased nutrient uptake and energy harvest via G-protein-coupled receptor activation. Hence, they support the development of obesity 6 .  ...  Forty-two specific pathogen-free Wistar rats (100-120 g) were provided by the animal house of Biochemistry Department, King Abdulaziz University, Jeddah, Saudi Arabia.  ...  Muhammad Yasir contributed to the experimental design, data analysis and manuscript writing. Youssri M. Ahmed and Mazin A. Zamzami contributed to drafting the manuscript. Imran Khan and Mohamed G.  ... 
doi:10.1038/s41598-017-19013-2 pmid:29330433 pmcid:PMC5766553 fatcat:s2mn75pqkrbsvm647qy2jghoya

Pediatric Upper Cervical Spine Trauma: A 10-Year Retrospective Review at a Pediatric Trauma Center

Sazid Hasan, Muhammad Waheed, Ameen K Suhrawardy, Collin Braithwaite, Lamia Ahmed, Philip Zakko, Jad G Khalil, Ehab S Saleh
2022 Cureus  
Dear Ehab S Saleh, MD, The Institutional Review Board has reviewed the above-referenced research proposal and documents (if applicable) which were submitted for exemption consideration.  ... 
doi:10.7759/cureus.20995 pmid:35028239 pmcid:PMC8751658 fatcat:kecptzjawfautd4ddujso5vnzu

Effectiveness of entrepreneurship quality education in higher educational institutions: A mediating effect of entrepreneurial training

Muhammad Raza, Ibrahim Youssef Alyoussef, Abdul Samad Dahri, Aleksandra G. Polyakova, Ali Saleh Alshebami, Murad Thomran
2021 Management Science Letters  
The main aim of this study is to assess the effectiveness of entrepreneurship quality education in higher education institutions in Indonesia on entrepreneurial goal intentions with the mediating effect of entrepreneurial training. The research followed the quantitative research design as the researcher collected data based on numeric facts. The sample size was 314 participants and a test was carried out on Smart PLS. The results were based on the measurement model to test the factor loadings,
more » ... alidity and reliability, path assessment, and the blindfolding technique which were mainly used for assessing the predictive relevance of the model. The findings of the study suggest that entrepreneurial training mediates entrepreneurship quality education programs in higher education institutions in Indonesia with entrepreneurial goal intentions.
doi:10.5267/j.msl.2020.11.016 fatcat:6gstejkomnbulc6z4h6ghmddlm

Ongoing oxidative stress in individuals with post-acute sequelae of COVID-19

Muhammad G. Saleh, Linda Chang, Huajun Liang, Meghann C. Ryan, Eric Cunningham, Jonathan Garner, Eleanor Wilson, Andrea R. Levine, Shyamasundaran Kottilil, Thomas Ernst
2022 NeuroImmune Pharmacology and Therapeutics  
Objectives Coronavirus disease 2019 (COVID-19) caused by SARS-CoV-2 infection is associated with lower plasma glutathione (GSH) levels due to oxidative stress. However, plasma levels may not reflect brain GSH levels. Individuals with post-acute sequelae of COVID-19 (PASC) have a higher prevalence of cognitive fatigue, which might be related to altered brain γ-aminobutyric-acid (GABA) levels. Hence, our study aims to measure the brain GSH and GABA levels in PASC. Methods 29 PASC participants and
more » ... 24 uninfected controls were recruited for this study. Each was evaluated with detailed neuropsychiatric assessments and an edited proton MRS (Hadamard Encoding and Reconstruction of Mega-Edited Spectroscopy, HERMES) method to measure GABA and GSH concentrations in predominantly grey matter (GM) and predominantly white matter (WM) brain frontal voxels. Results PASC participants were 219 ± 137 days since their COVID-19 diagnosis. Nine individuals with PASC were hospitalized. Compared to controls, individuals with PASC had similar levels of GABA in both brain regions, but lower GSH and greater age-related GSH decline in the frontal GM region. Conclusions The lower-than-normal frontal GM GSH level in participants with PASC suggest that they have ongoing oxidative stress in the brain, and that older individuals may be even more vulnerable to oxidative stress.
doi:10.1515/nipt-2022-0006 fatcat:uznwnivnevb3dmedl66gludpre

Assessing the performance of different DTI motion correction strategies in the presence of EPI distortion correction

Paul A. Taylor, A. Alhamud, Andre van der Kouwe, Muhammad G. Saleh, Barbara Laughton, Ernesta Meintjes
2016 Human Brain Mapping  
Diffusion tensor imaging (DTI) is susceptible to several artifacts due to eddy currents, echo planar imaging (EPI) distortion and subject motion. While several techniques correct for individual distortion effects, no optimal combination of DTI acquisition and processing has been determined. Here, the effects of several motion correction techniques are investigated while also correcting for EPI distortion: prospective correction, using navigation; retrospective correction, using two different
more » ... ular packages (FSL and TORTOISE); and the combination of both methods. Data from a pediatric group that exhibited incidental motion in varying degrees are analyzed. Comparisons are carried while implementing eddy current and EPI distortion correction. DTI parameter distributions, white matter maps and probabilistic tractography are examined. The importance of prospective correction during data acquisition is demonstrated. In contrast to some previous studies, results also show that the inclusion of retrospective processing also improved ellipsoid fits and both the sensitivity and specificity of group tractographic results, even for navigated data. Matches with anatomical white matter maps are highest throughout the brain for data that have been both navigated and processed using TORTOISE. The inclusion of both prospective and retrospective motion correction with EPI distortion correction is important for DTI analysis, particularly when studying subject populations that are prone to motion.
doi:10.1002/hbm.23318 pmid:27436169 pmcid:PMC5118068 fatcat:7skkdxim6jci3k6nd5ei4mqwe4
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