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Exome sequencing identifies a likely causative variant in 53%of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

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Genes & Diseases 2024年第5期11卷 40-43页

作者： Konstantin Deutsch Verena Klambt Thomas M.Kitzler Tilman Jobst-Schwan Ronen Schneider Florian Buerger Steve Seltzsam Sherif El Desoky Jameela A.Kari Farkhanda Hafeez Maria Szczepanska Loai A.Eid Hazem S.awad Muna Al-Saffar Neveen A.Soliman Velibor Tasic Camille Nicolas-Frank Kirollos Yousef Luca M.Schierbaum Sophia Schneider Abdul Halawi Izzeldin Elmubarak Katharina Lemberg Shirlee Shril Shrikant M.Mane Nancy Rodig Friedhelm Hildebrandt Division of Nephrology Department of PediatricsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatric Gastroenterology Nephrology and Metabolic DiseasesCharite Universitatsmedizin BerlinBerlin 13353Germany Berlin Institute of Health at Charitee Universitatsmedizin Berlin BIH Biomedical Innovation AcademyBIH Charite Clinician Scientist ProgramBerlin 10178Germany Department of Nephrology and Hypertension FriedrichAlexander-Universitat Erlangen-NurnbergErlangen 91054Germany Department of Pediatrics Faculty of Medicine King Abdulaziz UniversityPediatric Nephrology Center of ExcellenceKing Abdulaziz University HospitalJeddah 21589Saudi Arabia Department of Pediatric Nephrology The Children’s Hospital and Institute of Child HealthLahore 54000Pakistan Department of Pediatrics Faculty of Medical Sciences in ZabrzeMedical University of Silesia in KatowiceKatowice 40-752Poland Dubai Hospital and Al-Jalila Children’s Specialty Hospital Kidney Center of ExcellenceDubai 4545United Arab Emirates Department of Genetics and Genomics UAE UniversityAbu Dhabi 15551United Arab Emirates Department of Pediatrics Division of Genetics and GenomicsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatrics Center of Pediatric Nephrology and TransplantationKasr Al Ainy School of MedicineCairo UniversityCairo 11562Egypt Egypt Center for Research and Regenerative Medicine(ECRRM) Cairo 11511Egypt Medical Faculty Skopje University Children’s HospitalSkopje 1000North Macedonia Department of Genetics Yale University School of MedicineNew HavenCT 06520USA

Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 To date,more than 90 genes have been identified that cause autosomalrecessive NPHP-RC if mutated,accounting for up to 60%of cases.1 Among these,homozygous deletions of NPHP1 are the most common *** genes localize to primary cilia,basal bodies,or the centrosome and lead to a primary ciliary disruption if mutated,thereby causing a broad phenotypical spectrum.1 Patients that suffer from NPHP-RC can either have an isolated renal phenotype,such as polyuria,polydipsia,decreased urinary concentration ability,and secondary enuresis due to loss of tubular function,or present with extrarenal symptoms including retinal degeneration,cerebellar vermis hypoplasia,or hepatic *** are often diagnosed in early adolescence,reaching end-stage renal disease before 25 years of age,but early onset and rapidly progressive forms of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of normal or reduced renal length with increased echogenicity and corticomedullary cysts.

关键词： degeneration urinary likely

Effects of cathodic component of current on porosity and hardness characteristics of micro plasma oxidation(MPO) coatings on aluminum alloy

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中国有色金属学会会刊：英文版 2005年第1期15卷 113-118页

作者： Samir Hamid awad 钱翰城 School of Mechanical Engineering Chongqing University Chongqing 400044 China

Micro plasma oxidation(MPO) has recently been investigated as a novel, rapid and effective means to provide modified surfaces with improved properties of load bearing and wear resistance on light alloys particularly aluminum alloys. MPO is a multifactor-controlled process, these factors must be controlled to produce high quality coatings. The main research emphasis in MPO coating development over the past years seems to be the attainment of higher hardness levels and thick coatings. The porosity of MPO coating is the most complex phenomenon affecting the distribution, levels and the measurements of the hardness; and it is controlled by suitable selection of important parameters such as the electrical conditions. Ceramics coatings were synthesized on Al substrate by MPO to examine the effects of adding a cathodic phase alternated with anodic-cathodic current on the porosity and hardness characteristics of coatings by X-ray diffraction(XRD), scanning electron microscopy(SEM), and microhardness tester. The coatings produced by the combined mode are more dense and less porous than that by the anodic-cathodic mode. (Microhardness) test shows that the coatings produced by the combined mode exhibit both the highest hardness, and less reduction percentage in hardness with increasing the coatings thickness. These improvements become more significant for the polished and thicker coatings.

关键词：微观等离子体氧化铝合金硬度多孔材料

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绿壳蛋鸡蛋壳色素含量相关SNP标记筛选

中国畜牧杂志 2024年第9期60卷 99-106页

作者：李怀宇邵天琦李锦南夏添兰 Hesham Youssef awad Darwish 林慕阳蔡甘先徐建生李俊英邓学梅畜禽育种国家工程实验室动物遗传资源与分子育种实验室中国农业大学动物科学技术学院北京100193 江西东华种畜禽有限公司江西抚州330029

鸡的绿壳蛋性状主要由SLCO1B3基因上游EAV-HP逆转录病毒插入导致,虽然SLCO1B3显性突变纯合的群体都产绿壳蛋,但是蛋色深浅却仍然存在着较大差异,因此本研究认为绿壳蛋颜色深浅还受到其他多基因的影响。本研究利用455只东乡高产绿壳蛋鸡S... 详细信息

鸡的绿壳蛋性状主要由SLCO1B3基因上游EAV-HP逆转录病毒插入导致,虽然SLCO1B3显性突变纯合的群体都产绿壳蛋,但是蛋色深浅却仍然存在着较大差异,因此本研究认为绿壳蛋颜色深浅还受到其他多基因的影响。本研究利用455只东乡高产绿壳蛋鸡SLCO1B3基因显性纯合个体,进行了蛋色眼观分级和蛋壳色素定量测定。本研究选择前期在21号染色体定位到的关联单核苷酸多态性(SNP)位点,利用飞行时间质谱技术进行基因型鉴定,寻找与绿壳蛋色素含量相关联的SNP。结果表明:6个SNP与绿壳蛋色素含量显著关联,对应6个候选基因AJAP1、CAMTA1、SDHB、MRPS16、DJ-1和PRDM16。本研究结果对绿壳蛋鸡的选育具有重要的意义。

关键词：绿壳蛋鸡飞行时间质谱蛋壳色素单核苷酸多态性

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Improving Reconstructed Image Quality via Hybrid Compression Techniques

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Computers, Materials & Continua 2021年第3期66卷 3151-3160页

作者： Nancy awadallah awad Amena Mahmoud Department of Computer and Information Systems Sadat Academy for Management SciencesCairo11742Egypt Department of Computer Science Kafr el Sheikh University33511Egypt

Data compression is one of the core fields of study for applications of image and video *** raw data to be transmitted consumes large bandwidth and requires huge storage space as a result,it is desirable to represent the information in the data with considerably fewer bits by the mean of data compression techniques,the data must be reconstituted very similarly to the initial *** this paper,a hybrid compression based on Discrete Cosine Transform(DCT),DiscreteWavelet Transform(DWT)is used to enhance the quality of the reconstructed *** techniques are followed by entropy encoding such as Huffman coding to give additional *** coding is optimal prefix code because of its implementation is more simple,faster,and easier than other *** needs less execution time and it is the shortest average length and the measurements for analysis are based upon Compression Ratio,Mean Square Error(MSE),and Peak Signal to Noise Ratio(PSNR).We applied a hybrid algorithm on(DWT–DCT 2×2,4×4,8×8,16×16,32×32)***,we show that by using a hybrid(DWT–DCT)compression technique,the PSNR is reconstructed for the image by using the proposed hybrid algorithm(DWT–DCT 8×8 block)is quite high than DCT.

关键词： Image compression discrete cosine transform PSNR discrete wavelet transform hybrid algorithm

Analyzing Customer Reviews on Social Media via Applying Association Rule

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Computers, Materials & Continua 2021年第8期68卷 1519-1530页

作者： Nancy awadallah awad Amena Mahmoud Department of Computer and Information Systems Sadat Academy for Management SciencesCairo11742Egypt Faculty of computers and Information Department of Computer ScienceKafr el Sheikh UniversityKafr El Sheikh33511Egypt

The rapid growth of the use of social media opens up new challenges and opportunities to analyze various aspects and patterns in ***-text mining,several techniques are available such as information clustering,extraction,summarization,*** this study,a text mining framework was presented which consists of 4 phases retrieving,processing,indexing,and mine association rule *** is applied by using the association rule mining technique to check the associated term with the Huawei P30 Pro *** reviews are extracted from many websites and Facebook groups,such as ***,*** and *** technology,where customers from all over the world placed their notes on cell *** this analysis,a total of 192 reviews of Huawei P30 Pro were collected to evaluate them by text mining *** findings demonstrate that Huawei P30 Pro,has strong points such as the best safety,high-quality camera,battery that lasts more than 24 hours,and the processor is very *** paper aims to prove that text mining decreases human efforts by recognizing significant *** will lead to improving the awareness of customers to choose their products and at the same time sales managers also get to know what their products were accepted by customers suspended.

关键词： Machine learning text mining social media big data association rule document clustering

Polymeric nanocarriers for nose-to-brain drug delivery in neurodegenerative diseases and neurodevelopmental disorders

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Acta Pharmaceutica Sinica B 2023年第5期13卷 1866-1886页

作者： Rania awad Avi Avital Alejandro Sosnik Laboratory of Pharmaceutical Nanomaterials Science Department of Materials Science and EngineeringTechnion-Israel Institute of TechnologyHaifa 3200003Israel Behavioral Neurobiology Laboratory Department of Occupational TherapyFaculty of Social Welfare and Health SciencesUniversity of HaifaHaifa 3498838Israel

Neurodegenerative diseases are progressive conditions that affect the neurons of the central nervous system(CNS)and result in their damage and *** disorders include intellectual disability,autism spectrum disorder,and attention-deficit/hyperactivity disorder and stem from the disruption of essential neurodevelopmental *** treatment of neurodegenerative and neurodevelopmental conditions,together affecting~120 million people worldwide,is challenged by the blood—brain barrier(BBB)and the blood—cerebrospinal fluid barrier that prevent the crossing of drugs from the systemic circulation into the *** nose-to-brain pathway that bypasses the BBB and increases the brain bioavailability of intranasally administered drugs is promising to improve the treatment of CNS *** pathway is more efficient for nanoparticles than for solutions,hence,the research on intranasal nano-drug delivery systems has grown exponentially over the last *** nanoparticles have become key players in the field owing to the high design and synthetic *** review describes the challenges faced for the treatment of neurodegenerative and neurodevelopmental conditions,the molecular and cellular features of the nasal mucosa and the contribution of intranasal nano-drug delivery to overcome ***,a comprehensive overview of polymeric nanocarriers investigated to increase drug bioavailability in the brain is introduced.

关键词： Neurodegenerative diseases Neurodevelopmental disorders Central nervous system Blood—brain barrier Nano-drug delivery systems Nose-to-brain pathway Intranasal administration Polymeric nanoparticles Polymeric micelles Dendrimers

An innovative intelligent system based on remote sensing and mathematical models for improving crop yield estimation

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Information Processing in Agriculture 2019年第3期6卷 316-325页

作者： Mohamad M.awad National Council for Scientific Research RemoteSensing CenterP.O.Box 11-8281BeirutLebanon

There are many crop yield estimation techniques which are used in countries around the world,but the most effective is the one based on remote sensing data and ***,remote sensing data which are needed to estimate crop yield is incomplete most of the time due to many obstacles such as climate conditions(percentage of cloud cover),and low temporal *** problems reduce the effectiveness of the known crop yield estimation techniques and render them *** was many attempts to solve these problems by using high temporal resolution and low spatial resolution ***,this type of images are suitable for very large homogeneous crop *** compensate for the lack of high spatial resolution satellite images,a new mathematical model is *** on the new mathematical model an intelligent system is implemented that includes the use of energy balance equation to improve the crop yield *** verify the results of the intelligent system,several farmers are interviewed and information about their crops yield is *** comparison between the estimated crop yield and the actual production in different fields proves the high accuracy of the intelligent system.

关键词： Crop yield Environment Remote sensing Image processing Evapotranspiration Intelligent system

ELECTRO-MAGNETO-THERMOELASTIC PLANE WAVES IN MICROPOLAR SOLID INVOLVING TWO TEMPERATURES

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Acta Mechanica Solida Sinica 2010年第3期23卷 200-212页

作者： Magdy Ezzat Farid Hamza Emad awad Department of Mathematics Faculty of EducationAlexandria UniversityAlexandriaEgypt Department of Mathematics Faculty of ScienceAlexandria UniversityAlexandriaEgypt

The model of equations of micropolar generalized magneto-thermoelasticity is introduced within the context of the theory of two temperatures generalized thermoelasticity and we consider a problem of an isotropic homogeneous micropolar medium taking into account the heat effects and allowing the magnetic field effects. A plane wave analysis is employed to obtain the exact formulas of the two temperatures （conductive and mechanical）, displacement components, micro-rotation components, stresses, couple stresses, induced electric current, electric field and magnetic field. Arbitrary application is chosen to enable us to get the complete solution. The considered variables are presented graphically and discussions are made for the results.

关键词： elasticity electromagnetic plane waves micropolar material two temperatures theory heat transfer

Folding model calculations for ~6He+^(12)C elastic scattering

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Chinese Physics C 2016年第3期40卷 66-73页

作者： awad A.Ibraheem Physics Department King Khalid University Physics Department Al-Azhar University

In the framework of the double folding model, we used the α＋2n and di-triton configurations for the nuclear matter density of the ~6He nucleus to generate the real part of the optical potential for the system ~6He＋^（12）C. As an alternative, we also use the high energy approximation to generate the optical potential for the same system. The derived potentials are employed to analyze the elastic scattering differential cross section at energies of 38.3, 41.6 and 82.3 Me V/u. For the imaginary part of the potential we adopt the squared Woods-Saxon form. The obtained results are compared with the corresponding measured data as well as with available results in the literature. The calculated total reaction cross sections are investigated and compared with the optical limit Glauber model description.

关键词： optical model elastic scattering halo nuclei folding model glauber model