Search Results - "ISSA, Mahmoud"
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Developing a distress-based traffic equivalency to efficiently evaluate the effect of traffic loads on pavement performance
Published in The international journal of pavement engineering (10-11-2022)“…Traffic loading is considered one of the main factors contributing to pavement deterioration. Large illegal loads in the form of vehicles traveling with axle…”
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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia
Published in American journal of human genetics (07-04-2016)“…Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors >150 various proteins to the cell surface. At least 27 genes are involved in biosynthesis and…”
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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function
Published in Brain (London, England : 1878) (01-04-2020)“…Congenital disorders of glycosylation are a growing group of rare genetic disorders caused by deficient protein and lipid glycosylation. Here, we report the…”
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Lactate and hypotension as predictors of mortality after in-hospital cardiac arrest
Published in Resuscitation (01-01-2021)“…Guidance on post-cardiac arrest prognostication is largely based on data from out-of-hospital cardiac arrest (OHCA), despite clear differences between the OHCA…”
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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Published in Science (American Association for the Advancement of Science) (31-01-2014)“…Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal motor tract…”
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Acute respiratory distress syndrome after in-hospital cardiac arrest
Published in Resuscitation (01-08-2022)“…Acute respiratory distress syndrome (ARDS) after out-of-hospital cardiac arrest is common and associated with worse outcomes. In the hospital setting, there…”
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Vasopressors during adult cardiac arrest: A systematic review and meta-analysis
Published in Resuscitation (01-06-2019)“…To systematically review the literature on the use of vasopressors during adult cardiac arrest to inform an update of international guidelines. PRISMA…”
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Reply to: High lactate is common, not alone a reason to stop resuscitation in IHCA
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Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia
Published in American journal of human genetics (07-09-2017)“…Pontocerebellar hypoplasia (PCH) represents a group of recessive developmental disorders characterized by impaired growth of the pons and cerebellum, which…”
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Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
Published in Human genetics (01-09-2018)“…NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is…”
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The potential impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients
Published in Behavioural brain research (27-01-2020)“…Catechol-O-methyltransferase (COMT) enzyme has a major role in the adjustment of catechol-dependent functions, for example, cognition, cardiac function, and…”
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Prognostication with point-of-care echocardiography during cardiac arrest: A systematic review
Published in Resuscitation (01-07-2020)“…To conduct a prognostic factor systematic review on point-of-care echocardiography during cardiac arrest to predict clinical outcomes in adults with…”
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Thiamine Supplementation in Patients With Alcohol Use Disorder Presenting With Acute Critical Illness : A Nationwide Retrospective Observational Study
Published in Annals of internal medicine (01-02-2022)“…Thiamine supplementation is recommended for patients with alcohol use disorder (AUD). The authors hypothesize that critically ill patients with AUD are…”
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Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS
Published in Clinical genetics (01-08-2023)“…This study presents 46 patients from 23 unrelated Egyptian families with ALS2‐related disorders without evidence of lower motor neuron involvement. Age at…”
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Reproduction of Architecture in Modernizing Local Architecture: The Case of Muqarnas
Published in Iconarp international journal architecture and planning (01-12-2023)“…The present study aims to investigate the cultural identity concept and its relation to cultural heritage within a conservation framework under the threat of…”
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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Published in Nature communications (07-05-2021)“…GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear…”
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A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features
Published in Journal of medical genetics (01-01-2018)“…Transport protein particle (TRAPP) is a multisubunit complex that regulates membrane trafficking through the Golgi apparatus. The clinical phenotype associated…”
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Tensile Force Limits of the Sheep Spine: Comparison to Forces Required to Extricate Grain Entrapped Victims
Published in Journal of agromedicine (12-11-2024)“…Grain storage facility entrapments continue to be of concern in the agricultural industry, with nearly 1,500 documented incidents recorded over the last 45…”
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Kidney-specific biomarkers for predicting acute kidney injury following cardiac arrest
Published in Resuscitation (01-09-2023)“…To evaluate the performance of kidney-specific biomarkers (neutrophil gelatinase-associated lipocalin (NGAL), kidney injury molecule-1 (KIM-1), and cystatin-C)…”
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