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Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family

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Genes & Diseases 2021年第1期8卷 110-114页

作者： hussein Algahtani Bader Shirah Ikram Ullah Mohammad h.Al-Qahtani Angham Abdulrahman Abdulkareem Muhammad Imran Naseer King Abdulaziz Medical City King Saud bin Abdulaziz University for Health SciencesJeddahSaudi Arabia King Abdullah International Medical Research Center King Saud bin Abdulaziz University for Health SciencesJeddahSaudi Arabia Sulaiman Bin Abdullah Aba Al-Khail Centre for Interdisciplinary Research in Basic Sciences International Islamic UniversityIslamabadPakistan Center of Excellence in Genomic Medicine Research King Abdulaziz UniversityJeddahSaudi Arabia Department of Medical Laboratory Technology Faculty of Applied Medical SciencesKing Abdulaziz UniversityJeddahSaudi Arabia

The nonlysosomal glucosylceramidase b2(GBA2)gene encode an enzyme that catalyzes the hydrolysis of glucosylceramide to glucose and *** in the GBA2 gene have been reported to cause hereditary spastic paraplegia,autosomal recessive cerebellar ataxia with spasticity,and Marinescu-Sjogren-Like *** this study,we report the clinical features and genetic diagnosis of autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi *** included a large consanguineous Saudi family with a presumptive clinical diagnosis of ataxia at King Abdulaziz Medical City in Jeddah,Saudi *** family included six affected individuals and four unaffected in addition to the *** exome sequencing(WES)was performed for the probandⅣ-5,and Sanger sequencing was used to confirm the variant in other family *** study was performed using DNA from the parents and siblings of the *** analysis identified a homozygous variant c.2618G>A,p.(Arg873his)in GBA2 *** homozygous variant was identified in affected members of the family while the parents and the other four siblings were heterozygous carriers of the *** sibling was not available for genetic *** variant identified in our patients is classified as pathogenic considering the current evidence of the *** recessive cerebellar ataxia with spasticity is an extremely rare genetic disorder with very few cases reported in the *** conclude that the c.2617G>A mutation in GBA2 gene causes the loss of function with abolishment of the enzymatic activity that causes the *** report adds further evidence to support the pathogenicity of this *** patients had the classical clinical phenotype of cerebellar ataxia and spasticity consistent with previous reports in the literature.

关键词： Ataxia with spasticity Autosomal recessive GBA2 Novel mutation Saudi Arabia

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Gamma-ray measurements of natural radioactivity in sedimentary rocks from Egypt

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Nuclear Science and Techniques 2006年第2期17卷 123-128页

作者： A.M.EL-ARABI Adel G.E.ABBADY A.S.hussein Physics Department Faculty of Science South Valley University Qena Egypt Radiation Protection Department Nuclear Power Plants Authority Egypt

The aim of this study was to measure concentrations and distributions of natural radionuclides occurring in rocks. The activity concentrations (Bq·kg-1) of the naturally occurring radionuclides 226Ra, 232Th, and 40K in sedi- mentary rock samples from Eastern Desert (Um El-huetat), Nile Valley (Gebel Owina) and from southwest Sinai (Wadi Ghweiba) were measured using a high-purity germanium detector. The samples under investigation (clay, shale and sandstone) were used as raw materials in the construction industry (bricks, ceramics, cement, fillers, etc.). Though the sediments of Egypt have already been investigated in the geological and mineralogical aspects, it is necessary to investigate the natural radioactivity in order to complete their classification. The average concentration values of 226Ra, 232Th, 40K in the surveyed samples were 47 ± 7 , 21± 5, 393±19 ***-1 (clay); 23 ± 5, 30 ± 6, 563 ± 24 ***-1 (shale); and 17 ± 4, 14 ± 4, 299 ± 17 ***-1 (sandstone), respectively. All sediment samples have radium equivalent activities ranging from 55 to 115 Bq·kg-1, lower than the limit set in the OECD Report (370 Bq·kg-1). The overall mean outdoor terrestrial gamma dose rates fluctuate from 28 to 55 nGy·h-1. The external gamma radiation dose due to natural radionuclides present in the samples have been computed and compared with the global averages. In terms of the radiation safety, the natural radioactivity of the sediment in Egypt is below the recommended limits of the gamma dose rate. Therefore, they can be used for all kinds of public buildings.

关键词：天然放射性核素页岩沙岩埃及

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Class switch recombination junctions are not affected by the absence of the immunoglobulin heavy chain E_(μ) enhancer

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Cellular & Molecular Immunology 2019年第7期16卷 671-673页

作者： hussein Issaoui Nour Ghazzaui Mélissa Ferrad François Boyer Yves Denizot UMR CNRS 7276 INSERM U1262Equipe Labellisée LIGUE 2018University of LimogesCBRSrue Pr.Descottes87025 LimogesFrance

After encountering antigen,B-cells undergo class switch recombination(CSR)that substitutes the constant(C)μgene with Cγ,Cε,or Cα,thereby generating IgG,IgE,and IgA antibodies with new effector functions but the same antigenic specificity.1 The DNA-editing enzyme activation-induced deaminase(AID)is required for CSR by targeting specific DNA switch(S)regions preceding the C region,except Cδ.2 Sμis the donor region,while Sγ,ε,αare the acceptor *** is controlled in cis by the immunoglobulin heavy chain(Igh)3’regulatory region(3’RR).3 The 3’RR is essential to poise AID on the S acceptor *** CSR Igh,intrachromosomal interactions(schematized in Fig.1a)are found between the 3’RR and the intronic Eμenhancer.1,4 Looping allows transcriptional binding activators to enhancers to facilitate ***,CSR is only modestly influenced by Eμdeletion.5–7 During CSR,two different DNA repair pathways take place:the classical nonhomologous end joining(c-NhEJ)and the alternative end joining(A-EJ)pathways.

关键词： joining thereby generating

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Differential control of growth,apoptotic activity and gene expression in human colon cancer cells by extracts derived from medicinal herbs,Rhazya stricta and Zingiber officinale and their combination

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World Journal of Gastroenterology 2014年第41期20卷 15275-15288页

作者： Ayman I Elkady Rania Abd El hamid hussein Osama A Abu-Zinadah Department of Biological Sciences Faculty of SciencesKing Abdulaziz University Zoology Department Faculty of ScienceAlexandria University Department of Clinical Nutrition Faculty of Applied Medical SciencesKing Abdulaziz University Gamal Abd El Nasser hospital

AIM: To investigate the effects of extracts from Rhazya stricta (R. stricta) and Zingiber officinale (Z. officinale) on human colorectal cancer cells.

关键词： Apoptosis Colorectal cancer Oncogenes Phytochemicals Tumor suppressor proteins

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Dysphagia and daily oral fluids among cerebrovascular stroke patients:an theory-based nursing intervention protocol

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Frontiers of Nursing 2023年第2期10卷 213-222页

作者： Zeinab hussein Ali Marwa Abd-Elaziz Amany Abdrbo Department of Adult health Nursing Faculty of NursingHelwan UniversityAin HelwanCairo 11795Egypt Department of Adult health Nursing&Focal Point of International Relations Faculty of NursingHelwan UniversityAin HelwanCairo 11795Egypt Nursing Department Almoosa College for Health SciencesEastern Province 31982Saudi Arabia

Objective:To evaluate the improvement of dysphagia and the daily amounts of oral fluids served among people who had recently experienced a cerebrovascular stroke(CVS)after applying a nursing intervention ***:A quasi-experimental design was used to examine 60 stroke patients who were randomly and alternatively divided equally into a study group and a control *** Swallowing Screen(GUSS)and fluid balance chart were *** the first 24 h of a patient’s admission,expert nurses were trained in nursing intervention protocol to manage dysphagia and daily oral ***:Post-nursing intervention,the severity of dysphagia decreased among the study group more than in the control ***,the study group began taking greater amounts of fluids by the oral route than before the nursing ***:A standardized nursing intervention protocol is needed to decrease the severity of dysphagia after CVS and increase the amount of daily oral *** presence of a structured theory-based nursing intervention protocol for dysphagia management will greatly contribute to decreasing the consequences of dysphagia after CVS,and can also be expected to attenuate the effects of aspiration pneumonia,dehydration,and malnutrition;further,it also increases adherence to the protocol by both nurses and patients.

关键词： dysphagia evidence-based health behavior nursing intervention oral fluid serving stroke

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Ciliotherapy： a novel intervention in polycystic kidney disease

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Journal of Geriatric Cardiology 2014年第1期11卷 63-73页

作者： Sarmed h. Kathem Ashraf M. Mohieldin Shakila Abdul-Majeed Sajida h. Ismail Qaiss h. Altaei Ibrahim K. Alshimmari Mohanned M. Alsaidi hussein Khammas Andromeda M. Nauli Bina Joe Surya M. Nauli Centerfor hypertension and Personalized Medicine University of Toledo Health Science Building Room 312 3000 Arlington Ave. Toledo OH 43614 USA Department of Pharmacology University of Toledo Health Education Building Room 274 3000 Arlington Ave. Toledo OH 43614 USA College of Pharmacy University of Baghdad Bab-Almoadhum 14026 Baghdad Iraq Kidney Disease and Transplant Center Medical City Complex Bab-Almoadhum 14026 Baghdad Iraq Alkadhumia Academic hospital Bab-Almoadhum 14026 Baghdad Iraq pharmaceutical & Biomedical Sciences California Northstate University 10811 International Drive Rancho Cordova CA 95670 USA

Background Ciliopathies are a group of diseases associated with abnormal structure or function of primary cilia. Ciliopathies include polycystic kidney disease （PKD）, a pathology associated with vascular hypertension. We previously showed that cilia length regulates cilia function, and cilia function is required for nitric oxide （NO） biosynthesis in endothelial cells. Because patients with PKD show abnormal sensory cilia function, the aim of our current study was to search for a targeted therapy focused on primary cilia, which we refer to as ＇cilio- therapy＇. Methods and Results In the present studies, our in vitro analyses refined fenoldopam as an equipotent and more specific dopa- minergic agonist to regulate cilia length and function. Our in vivo studies indicated that fenoldopam increased cilia length and serum NO thereby reducing blood pressure in a PKD mouse model. Our crossover, multicenter, double-blind and placebo-controlled clinical study further indicated that cilia-targeting therapy showed an overall reduction in mean arterial pressure in PKD patients. Conclusions Overall, our studies provide the first evidence of ciliotherapy as an innovative intervention in patients with abnormal primary cilia.

关键词： Primary cilium Blood pressure Mechanosensor Mechanotransduction Chemosensor Fluid-shear stress

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Chemical composition and antioxidant activity of a Lebanese plant Euphorbia macroclada schyzoceras

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Asian Pacific Journal of Tropical Biomedicine 2013年第7期3卷 542-548页

作者： hussein Farhan hassan Rammal Akram hijazi Ahmad Daher Mohamad Reda hussein Annan Ali Chokr Ali Bassal Bassam Badran Doctoral School of Science and Technology Research Platform for Environmental Science Lebanese UniversityLebanon Faculty of Agricultural and Veterinary Sciences Lebanese UniversityLebanon Faculty of Sciences-1- Lebanese UniversityLebanon

Objective:To determine the chemical composition,total phenolic and total flavonoid contents ofthe crude extracts from leaves and stems of a Lebanese plantEuphorbia macroclada schyzoceras(***),and to evaluate their antioxidant potential using DPPh,h2O2,and chelating offerrous ions ***:Quantification of the total phenolic and total flavonoid contents ofthe crude extracts from leaves and stems and the antioxidant activities were evaluated usingspectrophotometric *** chemical composition has been estimated using differenttechniques such as IR,LC/MS and ***:Ethanolic extract from leaves *** was better than aqueous extract and showed higher content in total phenolic and total flavonoidthan found in the *** the other hand,using DPPh and h2O2tests,this extract from leavesshowed higher antioxidant capacity than aqueous ***,using the chelating of ferrousions test,the antioxidant activity of the aqueous extract of both stems and leaves was strongerthan that of ethanolic *** chemical composition of the whole plant showed the presence ofsome aromatic compounds and fatty ***:Both ethanolic and water extracts fromboth parts of this plant are effective and have good antioxidant ***,this plant can be usedin the prevention of a number of diseases related to oxidative stress.

关键词： Euphorbia macroclada schyzoceras Total phenolic Total flavonoid Antioxidant potential Chemical composition

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Deletion of the immunoglobulin heavy chain 3′ regulatory region super-enhancer affects somatic hypermutation in B1 B cells

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Cellular & Molecular Immunology 2019年第2期16卷 195-197页

作者： Issaoui hussein Ghazzaui Nour Boyer François Denizot Yves Saintamand Alexis Centre National de la Recherche Scientifique UnitéMixte de Recherche 7276 Institut National de la Santéet de la Recherche Médicale U1262CBRSrue du Pr.Descottes87025 LimogesFrance INSERM U1236 UniversitéRennes 1RennesFrance

Mouse B1 B cells originate in the embryonic liver and are the major B-cell population in the peritoneal and pleural cavities.1–5 By contrast,mouse B2 B cells originate in the bone marrow and are the major B-cell population in the bone marrow,spleen,and blood.B1 and B2 B cells differ not only in their origin and locations,but also in their antigen specificity,cell surface markers,capacities for class-switch recombination(CSR)and somatic hypermutation(ShM).Igh cis-regulatory regions and,particularly,transcriptional super-enhancers are major locus regulators under both normal and pathological conditions.6,7 Important differences have been found regarding the ability of the Igh 3′regulatory region(3′RR)super-enhancer to control the B1 and B2 B-cell fate.

关键词： spleen specificity peritoneal

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Uracil-DNA glycosylase is not implicated in the choice of the DNA repair pathway during B-cell class switch recombination

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Cellular & Molecular Immunology 2019年第1期16卷 93-95页

作者： Nour Ghazzaui hussein Issaoui Alexis Saintamand Yves Denizot François Boyer UMR CNRS 7276 INSERM U1262University of LimogesCBRSrue Pr.Descottes87025 LimogesFrance INSERM U1236 Rennes 1 UniversityRennesFrance

Mature B-cells express membrane IgM and IgD(of same specificity)through alternative splicing of a pre-mRNA encompassing constant(C)μand Cδ*** encountering antigen,Bcells undergo class switch recombination(CSR)that substitutes the Cμgene with Cγ,Cε,or Cα,thereby generating IgG,IgE,and IgA antibodies with the same antigenic specificity but new effector ***-editing enzyme activation-induced deaminase(AID)is essential for CSR by targeting switch(S)regions preceding Cμ(namely,the Sμdonor region)and the Cγ,Cε,and Cαgenes(namely,the Sγ,ε,αacceptor regions).1,2 CSR is controlled in cis by Igh locus super-enhancers3 and in trans by a wide spectrum of enzymes and proteins.1,2 Among them,the role of the uracil DNA glycosylase(UNG)remains *** is a key enzyme of base excision repair,which carries out faithful *** authors estimate that during CSR,the UNG enzymatic activity removes the AID-induced dC to dU converted base of singlestrand DNA,generating abasic sites and leading to DNA strand breaks.1 For other authors,the role of UNG is to stabilize the S–S synapse and to recruit DNA repair factors that facilitate the endjoining process.4,5 Thus,the classical non-homogenous end joining pathway would be increased over the alternative end joining(A-EJ)pathway in UNG-deficient mice,4 suggesting an intriguing role of UNG in promoting the A-EJ pathway.

关键词： generating joining specificity

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Factors Influencing the Morphological Characteristics of Village Chickens’ Genetic Resources in the Abu-Dhabi Emirate, UAE

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Open Journal of Animal Sciences 2018年第1期8卷 87-103页

作者： Mohammad J. Tabbaa hussein h. hassanin RandD Abu-Dhabi Food Control Authority Abu-Dhabi UAE Department of Animal Production School of Agriculture The University of Jordan Amman Jordan Animal Production Abu-Dhabi Food Control Authority Abu-Dhabi UAE

The study was accomplished to identify the characteristics of village chickens’ (VCs) genetic resources in the Abu-Dhabi Emirate of United Arab Emirate (UAE) and to study factors affecting these characteristics. Each bird was individually observed, identified, measured and characterized of thirteen VCs pure breeds and crossbreds. The overall VCs had normal feather morphology (95.1%) and distribution (77%). Except for Fayomi chickens which were 100% mottled, no specific plumage pattern was found. Almost 52% of the VCs had white skins. Six different colors were reported for the shanks and maximized for white shanks (34.3%). Large breasts (46%) were more available. The predominant plumage color was mixed colors (37.5%). Face size tended to be small (42.8%) to medium (40.4%). More brown (48.9%) then orange (27.3%) eyes were found. Dark (49.7%) beaks were more available than white (28.6%) or yellow (21.7%) beaks. The distribution of wattle colors was similar to that of ear-lob colors with some variation. Small wattles (41.9%) were most available. Single comb (82.4%) is the most available;11 other types and one with no comb were represented with low frequencies. In the whole sample, red and white combs (56.7%) were the most available;however, plain red (23.8%) and red and black (15.5%) were represented. Results of factors influence showed that body weight was high significantly (P he interaction between both breed and region and breed and sex. Significant (P h, wing span and shank length. The interaction between breed and sex only significantly (P hank length. Though, all main effects of breed, sex and region significantly (P hological characteristics were significantly (P his study reported the morphological characteristics of the different VCs breeds kept in Abu-

关键词： Body Weight Breeds Morphological Characteristics UAE Village Chickens

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