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Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients

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International Journal of Ophthalmology(English edition) 2019年第1期12卷 8-15页

作者： Yar Muhammad Waryah Muhammad Iqbal Shakeel ahmed Sheikh Muhammad Azhar Baig Ashok Kumar Narsani Muhammad Atif Munir Ahmad Bhinder Attiq Ur Rahman Azam Iqbal memon Muhammad Suleman Pirzado Ali Muhammad Waryah Molecular Biology and Genetics Department Liaquat University of Medical and Health Sciences Department of Biochemistry Islamia University Bahawalpur Institute of Ophthalmology Liaquat University of Medical and Health Sciences Department of Human Genetics University of Health Sciences Lahore Center of Excellence in Marine Biology University of Karachi

AIM: To find the CYP1 B1 mutations associated with primary congenital glaucoma(PCG) in Pakistani consanguineous pedigrees. METHODS: After getting informed consent, 11 consanguineous pedigrees belonging to different ethnic groups were enrolled. Detailed medical history was recorded and pedigrees were drawn. The standard ophthalmological examination was done to characterize the phenotype. Genomic DNA was extracted from 10 mL whole blood and coding exons and exon intron boundaries of CYP1 B1 gene were directly sequenced. Bioinformatics tools were used to model the mutant protein and predict the effect of novel variants on protein structure and function. RESULTS: Sequencing analysis revealed 5 different CYP1 B1 variants in 7 families(7/11; 64%), including two novel variants. A common mutation, p.R390 H was found in four families, whereas p.P437 L was found once in a family. Two novel variants, a homozygous non sense variant p.L13* and a compound heterozygous variant, p.P350 T along with p.V364 M were segregating with PCGin two families. All the patients had the variable onset and severity of the disease. The success rate of early clinical interventions was observed dependent on mutation types and position. Two different haplotypes were associated with frequently found mutation, p.R390 H. CONCLUSION: Identification of novel CYP1 B1 variants reassert the genetic heterogeneity of Pakistani PCG patients. The patients with missense mutations show severe phenotypic presentations and poor vision after surgical interventions as compare to patients with null variants. This may help to better understand the role of CYP1 B1 mutations in the development of PCG and its course of pathogenicity.

关键词： CYP1B1 mutations primary congenital glaucoma genetics

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Open reduction and internal fixation for radial head fractures: A prospective observational study

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Journal of Acute Disease 2020年第4期9卷 166-169页

作者： Imran Khan Mangi Arslan ahmed Abro Muhammad Naveed memon Shahjahan Siyal Naveed Khan Nouman memon Muhammad Kazim Rahim Najjad Orthopaedic Surgery Liaquat National Hospital and Medical College Karachi Pakistan

Objective: To evaluate the effect of open reduction and internal fixation on radial head fracture and assess the post-operative function. Methods: This prospective observational study was conducted from June 2016 to July 2017 at Liaquat National Hospital and Medical College, Karachi. Altogether, 28 patients with radial head and neck fractures were enrolled in our study. These patients were admitted to the hospital and their fractures were fixed with open reduction and internal fixation. Baseline information of the patients was collected, and patient-rated elbow evaluation scores were calculated. Results: Out of the 28 patients, 21 were male and 7 were female. Besides, 16 fractures were on the right side and 12 were on the left side and 17 involving the dominant hands. In addition, 8 patients had Mason type Ⅱ fracture and 20 had Mason type Ⅲ fracture. The mean age of patients was (31.0 ± 8.0) years, and the mean follow-up is (1.2 ± 0.5) years. The mean average patient-rated elbow evaluation scores were (27.64 ± 1.60) at 1-year follow-up. Conclusions:The majority of the patients who had radial head fractures and treated by open reduction and internal fixation have attained an excellent range of motion postoperatively.

关键词： Radial head fractures Open reduction and internal fixation Functional outcome

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Salinity Stress in Wheat:Effects,Mechanisms and Management Strategies

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Phyton-International Journal of Experimental Botany 2022年第4期91卷 667-694页

作者： Mahmoud F.Seleiman Muhammad Talha Aslam Bushra ahmed Alhammad MuhammadUmair Hassan rizwan Maqbool Muhammad Umer Chattha Imran Khan Harun Ireri Gitari Omer S.Uslu Rana Roy Martin Leonardo Battaglia Plant Production Department College of Food and Agriculture SciencesKing Saud UniversityRiyadh11451Saudi Arabia Department of Crop Sciences Faculty of AgricultureMenoufia UniversityShibin El-kom32514Egypt Department of Agronomy University of AgricultureFaisalabad38040Pakistan Biology Department College of Science and Humanity StudiesPrince Sattam Bin Abdulaziz UniversityRiyadh11942Saudi Arabia Research Center on Ecological Sciences Jiangxi Agricultural UniversityNanchang330045China Department of Agricultural Sciences and Technology School of Agriculture and Enterprise DevelopmentKenyatta UniversityNairobi00100Kenya Department of Field Crops Faculty of AgricultureUniversity of Sutcu ImamKahramanmaras46040Turkey Department of Agroforestry&Environmental Science Faculty of AgricultureSylhet Agricultural UniversitySylhet3100Bangladesh Department of Animal Sciences Cornell UniversityIthaca14850USA

Salinity stress is a major threat to global food production and its intensity is continuously increasing because of anthropogenic *** is a staple food and a source of carbohydrates and calories for the majority of people across the ***,wheat productivity is adversely affected by salt stress,which is associated with a reduction in germination,growth,altered reproductive behavior and enzymatic activity,disrupted photosynthesis,hormonal imbalance,oxidative stress,and yield ***,a better understanding of wheat(plant)behavior to salinity stress has essential implications to devise counter and alleviation measures to cope with salt *** approaches including the selection of suitable cultivars,conventional breeding,and molecular techniques can be used for facing salt stress ***,these techniques are tedious,costly,and *** practices are still helpful to improve the wheat performance under salinity *** of arbuscular mycorrhizal fungi,plant growth-promoting rhizobacteria,and exogenous application of phytohormones,seed priming,and nutrient management are important tools to improve wheat performance under salinity *** this paper,we discussed the effect of salinity stress on the wheat crop,possible mechanisms to deal with salinity stress,and management options to improve wheat performance under salinity conditions.

关键词： Breeding techniques oxidative stress photosynthesis phyto-hormones salinity stress wheat

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Strength of Wall-Slab Junction with New Form of Shear Reinforcement in a Laterally Loaded Tall Shear Wall Building

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Journal of Civil Engineering and Architecture 2015年第2期9卷 193-206页

作者： Abdul Aziz Ansari Muhammad Aslam Bhutto Nadeem-ul-Karim Bhatti Rafique ahmed memon Department of Civil Engineering Mehran University of Engineering and Technology Khairpur Mirs 66020 Pakistan School of Built Environment Heriot-Watt University Edinburgh Edinburgh EH14 4AS United Kingdom Department of Civil Engineering Quaid-e-Awam University College of Engineering Science and Technology Larkano 77150Pakistan Gawader Seaport Authority Gawader Sea Port Gawader 91200 Pakistan

Very high concentration of flexural, shear and torsional stresses occurs at the wall-slab junctions in a laterally loaded tall building consisting of planar walls and coupling slabs. Due to this concentration of stresses and their interaction, there are great chances of failure to occur at the junction. Also the flexural stresses are not uniformly distributed and have the highest intensity near the periphery of inner walls but are reduced drastically as we move away from the wall-slab junction. Numerous attempts have been made to strengthen the wall-slab junction by using various types of shear reinforcement to ensure that shear failure should not occur. Various methods including fibre reinforcement consisting of twins of twisted steel couplets have already been used. This paper describes a new method of placing 2 inch wide flange I-sections at appropriate locations to improve the shear strength of the wall-slab junctions. Based on systematic research, a new procedure has also been developed to assess the strength of wall-slab junction using the new reinforcement method. Test results showed that a substantial increase, up to 57%, in the shear strength of specimens was obtained by using the new method of shear reinforcement in a laterally loaded tall building.

关键词： Wall-slab junction reinforcement vertical steel bars periphery of inner walls l-section.

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晚期视网膜母细胞瘤53例的临床挑战(英文)

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国际眼科杂志 2009年第2期9卷 227-230页

作者： Partab Rai Imtiaz Ali Shah Ashok kumar Narsani Mahesh Kumar Lohana Muhammad Khan memon Manzoor ahmed memon Chandka医学院附属医院眼科巴基斯坦Larkana Liaquat大学眼科医院眼科巴基斯坦海德拉巴 Liaquat大学眼科医院诊断研究实验室巴基斯坦海德拉巴 Kalsoom Bai Valieka医院眼科巴基斯坦卡拉奇 Liaquat大学医学及健康科学院病理科巴基斯坦Jamshoro

目的:评价肿瘤的位置、大小、组织学以及复发率。方法:前瞻性研究Larkana的Chandka医学院附属医院眼科的53例组织学诊断为视网膜母细胞瘤患者,肿瘤侵及眼球、眼眶、颅内以及其他组织。为研究肿瘤广泛性,检查包括:眼眶X线片,眼球B超,眼... 详细信息

目的:评价肿瘤的位置、大小、组织学以及复发率。方法:前瞻性研究Larkana的Chandka医学院附属医院眼科的53例组织学诊断为视网膜母细胞瘤患者,肿瘤侵及眼球、眼眶、颅内以及其他组织。为研究肿瘤广泛性,检查包括:眼眶X线片,眼球B超,眼眶及头颅CT扫描/MRI,全骨扫描,胸部前后位X线片,腹部B超,腰椎穿刺,全血细胞计数,包括肝肾功能检查的血生化,根据肿瘤的位置、大小、复发及转移选择包括手术、局部放疗、系统化疗的治疗方案。有局部和系统转移的患者,由Larkana的核医学和放疗机构的肿瘤专家进行局部放疗和系统化疗。术后1,3,6,12mo复查随访,随后5a及5a以上,1a复查一次。评估肿瘤的位置、大小、组织类型和复发率。结果:患者53例,年龄8mo^8岁。男25例(47%),女28例(53%)。肿瘤的眼别,左眼25例(47%),右眼19例(36%),双眼9例(17%)。患者的首发症状,斜视3例(6%),假性眼内炎4例(8%),眼眶炎性假瘤6例(11%),转移性包块7例(13%),蕈样生长的包块8例(15%),白瞳征12例(23%),眼眶浸润13例(25%)。行单纯眼球摘除术19例(36%),行眼球摘除及改良型眶内容物剜除术并局部放疗和系统化疗19例(36%),行眼球摘除及完全型眶内容物剜除术并局部放疗和系统化疗15例(28%)。肿瘤的组织类型,含大量染色质的高分化视网膜母细胞瘤25例(47%),高度未分化视网膜母细胞瘤28例(53%)。首次手术后,由于手术切除点以上视神经受累,眼眶浸润和系统转移,发生复发和转移37例(70%)。结论:儿童红眼或白瞳征在确诊之前应怀疑视网膜母细胞瘤,应该及时经眼科专家检查,因为患者在肿瘤初期的早期表现提示会降低肿瘤的扩散、复发和死亡率。

关键词：晚期症状视网膜母细胞瘤挑战

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Arc-length technique for nonlinear finite element analysis

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Journal of Zhejiang University Science 2004年第5期5卷 618-628页

作者： memonBashir-ahmed 苏小卒 DepartmentofStructuralEngineering TongjiUniversityShanghai200092China Ph.Dstudent fromDepartmentofCivilEngineeringQuaide-AwamUniversityofEngineeringScienceandTechnology.NawabshahSindhPakistan

Nonlinear solution of reinforced concrete structures, particularly complete load-deflection response, requires tracing of the equilibrium path and proper treatment of the limit and bifurcation points. In this regard, ordinary solution techniques lead to instability near the limit points and also have problems in case of snap-through and snap-back. Thus they fail to predict the complete load-displacement response. The arc-length method serves the purpose well in principle, received wide acceptance in finite element analysis, and has been used extensively. However modifications to the basic idea are vital to meet the particular needs of the analysis. This paper reviews some of the recent developments of the method in the last two decades, with particular emphasis on nonlinear finite element analysis of reinforced concrete structures.

关键词： Arc-length method,Nonlinear analysis,Finite element method,Reinforced concrete,Load-deflection path Document code: A CLC number: TU31 Arc-length technique for nonlinear finite element analysis* memon Bashir-ahmed#,SU Xiao-zu (苏小卒) (Department of Structural Engineering,Tongji University,Shanghai 200092,China) E-mail: bashirmemon@*** xiaozub@*** Received July 30,2003 revision accepted Sept. 11,2003 Abstract: Nonlinear solution of reinforced concrete structures,particularly complete load-deflection response,requires tracing of the equilibrium path and proper treatment of the limit and bifurcation points. In this regard,ordinary solution techniques lead to instability near the limit points and also have problems in case of snap-through and snap-back. Thus they fail to predict the complete load-displacement response. The arc-length method serves the purpose well in principle,received wide acceptance in finite element analysis,and has been used extensively. However modifications to the basic idea are vital to meet the particular needs of the analysis. This paper reviews some of the recent developments of the method in the last two decades,with particular emphasis on nonlinear finite element analysis of reinforced concrete structures. Key words: Arc-length method,Nonlinear analysis,Finite element method,Reinforced concrete,Load-deflection path

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Genotoxicity of ferric oxide nanoparticles in Raphanus sativus：Deciphering the role of signaling factors,oxidative stress and cell death

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Journal of Environmental Sciences 2016年第9期28卷 49-62页

作者： Quaiser Saquib Mohammad Faisal Abdulrahman A.Alatar Abdulaziz A.Al-Khedhairy Mukhtar ahmed Sabiha M.Ansari Hend A.Alwathnani Mohammad K.Okla Sourabh Dwivedi Javed Musarrat Shelly Praveen Shams T.Khan rizwan Wahab Maqsood A.Siddiqui Javed Ahmad Zoology Department College of Sciences King Saud University P.O. Box 245S Riyadh 114S1 Saucli Arabia A.R. Al-Jeraisy Chair for DNA Research Zoology Department College of Sciences King Saud University P.O. Box 2455 Riyadh 11451Saudi Arabia Department of Botany & Microbiology College of Sciences King Saucl University P.O. Box 2455 Riyaclh 11451 Saudi Arabia Department of Agricultural Microbiology Faculty of Agricultural Sciences Aligarh Muslim University AIigarh 202002 India Baba Ohulam Shah Badshah Uniuersity Rajouri 185131Jammu and Kashmir India Division of Plant Pathology Indian Agricultural Research Institute New Delhi 110012 India

We have studied the genotoxic and apoptotic potential of ferric oxide nanoparticles（Fe_2O_3-NPs） in Raphanus sativus（radish）.Fe_2O_3-NPs retarded the root length and seed germination in *** sections of treated roots showed subcellular localization of Fe_2O_3-NPs,along with the appearance of damaged mitochondria and excessive *** cytometric analysis of Fe_2O_3-NPs（1.0 mg/m L） treated groups exhibited 219.5%,161%,120.4% and 161.4% increase in intracellular reactive oxygen species（ROS）,mitochondrial membrane potential（ΔΨm）,nitric oxide（NO） and Ca2＋influx in radish protoplasts.A concentration dependent increase in the antioxidative enzymes glutathione（GSH）,catalase（CAT）,superoxide dismutase（SOD） and lipid peroxidation（LPO） has been *** assay showed a concentration dependent increase in deoxyribonucleic acid（DNA） strand breaks in Fe_2O_3-NPs treated *** cycle analysis revealed 88.4% of cells in sub-G1 apoptotic phase,suggesting cell death in Fe_2O_3-NPs（2.0 mg/m L） treated *** together,the genotoxicity induced by Fe_2O_3-NPs highlights the importance of environmental risk associated with improper disposal of nanoparticles（NPs） and radish can serve as a good indicator for measuring the phytotoxicity of NPs grown in NP-polluted environment.

关键词： Ferric oxide nanoparticles Nanotoxicity DNA damage Apoptosis Oxidative stress Phytotoxicity

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CH4/O2等离子体反应直接合成甲醇的研究

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现代化工 2020年第10期40卷 160-164页

作者：李尚昆 rizwan ahmed 郝英姿徐显明郭洪臣易颜辉大连理工大学精细化工国家重点实验室辽宁大连116024 中国石油天然气集团公司石油化工研究院大庆中心黑龙江大庆163714

高效甲烷转化技术一直是学术界及工业界的研究热点,其中,甲烷转化制甲醇颇受业界关注。然而,甲烷分子结构稳定且C—H键能大(413 kJ/mol)导致转化困难。采用新型介质阻挡放电反应器,以循环水为接地极,在低温常压条件下通过分子氧实现甲... 详细信息

高效甲烷转化技术一直是学术界及工业界的研究热点,其中,甲烷转化制甲醇颇受业界关注。然而,甲烷分子结构稳定且C—H键能大(413 kJ/mol)导致转化困难。采用新型介质阻挡放电反应器,以循环水为接地极,在低温常压条件下通过分子氧实现甲烷直接氧化制甲醇。结果表明,在短停留时间和低功率条件下可以达到较高的甲醇选择性,在温度为85℃、n(CH4)∶n(O2)为2∶1、停留时间为0.393 s和功率为30 W条件下,甲烷转化率达到4.1%,甲醇选择性达到42.2%,液体产物选择性达到76.2%。

关键词：等离子体介质阻挡放电反应器甲烷转化制甲醇

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Inhomogeneous-strain-induced magnetic vortex cluster in one-dimensional manganite wire

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Science Bulletin 2020年第3期65卷 201-207页

作者： Iftikhar ahmed Malik Houbing Huang Yu Wang Xueyun Wang Cui Xiao Yuanwei Sun rizwan Ullah Yuelin Zhang Jing Wang Muhammad Abdullah Malik Irfan ahmed Changmin Xiong Simone Finizio Mathias Kl?ui Peng Gao Jie Wang Jinxing Zhang Department of Physics Beijing Normal UniversityBeijing 100875China Advanced Research Institute of Multidisciplinary Science Beijing Institute of TechnologyBeijing 100081China Department of Engineering Mechanics&Key Laboratory of Soft Machines and Smart Devices of Zhejiang Province Zhejiang UniversityHangzhou 310027China School of Aerospace Engineering Beijing Institute of TechnologyBeijing 100081China Department of Physics University of Science and Technology BeijingBeijing 100083China International Center for Quantum Materials and Electron Microscopy Laboratory School of PhysicsPeking UniversityBeijing 100871China Department of Physics Johannes Gutenberg-University MainzMainz 55099Germany Graduate School of Excellence Materials Science in Mainz Mainz 55128Germany Collaborative Innovation Center of Quantum Matter Beijing 100871China

Mixed-valance manganites with strong electron correlation exhibit strong potential for spintronics,where emergent magnetic behaviors,such as propagation of high-frequency spin waves and giant topological Hall Effects can be driven by their mesoscale spin ***,we create magnetic vortex clusters with flux closure spin configurations in single-crystal La0.67Sr0.33MnO3 wire.A distinctive transformation from out-of-plane domains to a vortex state is directly visualized using magnetic force microscopy at 4 K in wires when the width is below 1.0μ*** phase-field modeling indicates that the inhomogeneous strain,accompanying with shape anisotropy,plays a key role for stabilizing the flux-closure spin *** work offers a new perspective for understanding and manipulating the non-trivial spin textures in strongly correlated systems.

关键词： Magnetic vortex cluster Inhomogeneous strain One-dimensional manganites Epitaxial thin films Cryo-Temperature MFM

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Comparative study of the efficacy of gentamicin-coated intramedullary interlocking nail versus regular intramedullary interlocking nail in Gustilo type I and II open tibia fractures

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Chinese Journal of Traumatology 2019年第5期22卷 270-273页

作者： Deepak Pinto K.Manjunatha Amarnath D.Savur Naufal rizwan ahmed Sharan Mally V.Ramya Department of Orthopaedics Kasturba Medical College MangaloreManipal Academy of Higher EducationIndia Department of Community Medicine Basaveshwara Medical CollegeChitradurgaIndia

Purpose:Open tibia fracture is prone to infection,consequently causing significant morbidity and increasing the hospital stay,occupational loss and onset of chronic *** nailing is one choice for treating tibia shaft *** improve the delivery of antibiotics at the tissue-implant interface,many methods have been proposed as a part of prophylaxis against *** study was conducted to study the role of gentamicin-impregnated intramedullary interlocking(IMIL)nail in the prevention of infection in Gustilo typeⅠandⅡopen tibia fractures and to compare the results with regular intramedullary ***:The study included 28 patients with open tibia fractures(Gustilo type 1 or type 2);of them 14 underwent regular IMIL nailing and the other 14 were treated with gentamicin-coated *** was done by alternate allocation of the ***-up was done postoperatively(day 1),1 week,6 weeks,and 6 months for bone union,erythrocyte sedimentation rate(ESR),hemoglobin and C?reactive protein(CRP).Statistical significance was tested using unpaired t-test.A p value less than 0.05 was considered ***:There were 4 cases of infection in controls(regular IMIL nail)and no infection among patients treated with gentamicin-coated nail during the follow up(Х^2=4.66,p=0.031).At 6 months postoperatively,CRP(p=0.031),ESR(p=0.046)and hemoglobin level(p=0.016)showed significant difference between two *** bone healing rate was better with gentamicin-coated nail in comparison to regular IMIL nail at 6 months follow-up(p=0.016).Conclusion:Gentamicin-coated IMIL nail has a positive role in preventing infection in Gustilo typeⅠandⅡopen tibia fractures.

关键词： Antibiotic impregnated nail Intramedullary nailing Open tibia fracture Infection

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