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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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Quantum photodetachment of hydrogen negative ion in a harmonic potential subjected to static electric field

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Chinese Physics B 2019年第2期28卷 179-184页

作者： Azmat Iqbal Kiran Humayun Sana Maqsood Saba Jawaid Afaq Ahmad Amin ur Rahman Bakht Amin Bacha Department of Physics The University of LahoreRaiwind Road CampusLahorePakistan Center of Excellence in Solid State Physics University of the PunjabLahorePakistan Department of Physics RIPHAH International University IslamabadPakistan Department of Physics University of Malakand Chakdara Dir(L)Pakistan

Photodetachment of negative ions has attracted immense interest owing to its fundamental nature and practical implications with regard to technology. In this study, we explore the quantum dynamics of the photodetachment cross section of negative ion of hydrogen H-in the perturbed one dimensional linear harmonic potential via static electric field. To this end,the quantum formula for total photodetachment cross section of the H-ion is derived by calculating the dipole matrix element in spherical coordinates. In order to obtain the detached electron wave function, we have solved the time-independent Schr¨odinger wave equation for the perturbed Hamiltonian of the harmonic oscillator in momentum representation. To acquire the corresponding normalized final state detached electron wave function in momentum space, we have employed an approach analogous to the WKB(Wenzel–Kramers–Brillouin) approximation. The resulting analytical formula of total photodetachment cross section depicts interesting oscillator structure that varies considerably with incident-photon energy,oscillator potential frequency, and electric field strength as elucidated by the numerical results. The current problem having close analogy with the Stark effect in charged harmonic oscillator may have potential implications in atomic and molecular physics and quantum optics.

关键词： photodetachment cross section harmonic oscillator potential Stark effect time-independent Schrodinger equation WKB approximation

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Impact of initial fluid resuscitation volume on clinical outcomes in patientswith heart failure and septic shock

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Journal of Intensive Medicine 2023年第3期3卷 254-260页

作者： Adam l.Wiss Bruce A.Doepker Brittany Hoyte logan M.Olson kathryn A.Disney Eric M.Mclaughlin Vincent Esguerra Jessica l.Elefritz Department of Pharmacy Ascension Saint Thomas Hospital WestNashvilleTN 37205USA Department of Pharmacy The Ohio State University Wexner Medical CenterColumbusOH 43210USA Department of Pharmacy Corewell HealthGrand RapidsMI 49503USA Department of Pharmacy Nebraska MedicineOmahaNE 68105USA Department of Pharmacy Huntsman Cancer Institute at the University of UtahSalt Lake CityUT 84112USA Center for Biostatistics The Ohio State UniversityColumbusOH 43210USA Division of Pulmonary AllergyCritical Careand Sleep Medicine.The Ohio State University Wexner Medical CenterColumbusOH 43210USA

Background:Fluid resuscitation is a key treatment for sepsis,but limited data exists in patients with existing heartfailure(HF)and septic *** objective of this study was to determine the impact of initial fluid resuscitationvolume on outcomes in HF patients with reduced or mildly reduced left ventricular ejection fraction(lVEF)withseptic ***:This multicenter,retrospective,cohort study included patients with known HF(lVEF≤50%)presentingwith septic *** were divided into two groups based on the volume of fluid resuscitation in the first 6 h;l/kg or≥30 ml/*** primary outcome was a composite of in-hospital mortality or renal replacementtherapy(RRT)within 7 *** outcomes included acute kidney injury(AKI),initiation of mechanicalventilation,and length of stay(lOS).All related data were collected and compared between the two groups.A generalized logistic mixed model was used to assess the association between fluid groups and the primaryoutcome while adjusting for baseline lVEF,Acute Physiology and Chronic Health Evaluation(APACHE)II score,inappropriate empiric antibiotics,and receipt of ***:One hundred and fifty-four patients were included(93 patients inl/kg group and 61 patientsin≥30 ml/kg group).The median weight-based volume in the first 6 h was 17.7(12.2–23.0)ml/kg in thel/kg group vs.40.5(34.2–53.1)ml/kg in the≥30 ml/kg group(Pl difference was detected in the composite of in-hospital mortality or RRT between thel/kg group compared to the≥30 ml/kggroup(55.9%vs.45.9%,P=0.25),***l/kg group had a higher incidence of AKI,mechanicalventilation,and longer hospital ***:In patients with known reduced or mildly reduced lVEF presenting with septic shock,no differencewas detected for in-hospital mortality or RRT in patients who received≥30 ml/kg of resuscitation fluid comparedto less fluid,although this study was underpowered to detect a ***

关键词： Sepsis Septic shock Heart failure Fluid resuscitation

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Storylines of family medicine Ⅳ:perspectives on practice—lenses of appreciation

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Family Medicine and Community Health 2024年第S3期12卷 33-42页

作者： William B Ventres leslie A Stone Radeeb Akhtar Jeffrey M Ring lucy M Candib Erick Messias Ronald M Epstein Marc Tunzi Amy l lee Christopher P Morley Carina M Brown David Slawson Jill Konkin David G Campbell Ian Couper Susan Williams Robert Brooks lucie Walters Family and Preventive Medicine University of Arkansas for Medical Sciences College of MedicineLittle RockArkansasUSA Family Medicine and Community Health Icahn School of Medicine at Mount SinaiNew YorkNew YorkUSA Independent Health Psychologist Los AngelesCaliforniaUSA Family Medicine and Community Health UMass Chan Medical SchoolWorcesterMassachusettsUSA Psychiatry and Behavioral Neurosciences Saint Louis University School of MedicineSaint LouisMissouriUSA Family Medicine University of Rochester Medical CenterRochesterNew YorkUSA Family Medicine Residency Program Natividad Medical CenterSalinasCaliforniaUSA Family Medicine Tufts University School of MedicineBostonMassachusettsUSA Public Health and Preventive Medicine SUNY Upstate Medical UniversitySyracuseNew YorkUSA Cone Health Family Medicine Residency The University of North Carolina School of MedicineGreensboroNorth CarolinaUSA Family Medicine Atrium HealthCharlotteNorth CarolinaUSA Family Medicine University of Alberta Faculty of Medicine&DentistryEdmontonAlbertaCanada Cunninghame arm Medical Centre Australian College of Rural and Remote MedicineLakes EntranceQueenslandAustralia Ukwanda Centre for Rural Health Stellenbosch University Faculty of Medicine and Health SciencesCape TownWestern CapeSouth Africa Adelaide Rural Clinical School The University of AdelaideAdelaideSouth AustraliaAustralia Department of Rural Health Broken Hill UniversityBroken HillNew South WalesAustralia Adelaide Rural Clinical School The University of Adelaide Faculty of Health and Medical SciencesMount GambierSouth AustraliaAustralia

Storylines of Family Medicine is a 12-part series of thematically linked mini-essays with accompanying illustrations that explore the many dimensions of family medicine,as interpreted by individual family physicians and medical educators in the USA and elsewhere around the ***‘Ⅳ:perspectives on practice—lenses of appreciation’,authors address the following themes:‘Relational connections in the doctor–patient partnership’,‘Feminism and family medicine’,‘Positive family medicine’,‘Mindful practice’,‘The new,old ethics of family medicine’,‘Public health,prevention and populations’,‘Information mastery in family medicine’and‘Clinical courage.’May readers nurture their curiosity through these essays.

关键词： thematic illustration doctor

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Genome-wide association analysis for stripe rust resistance in spring wheat(Triticum aestivum l.) germplasm

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Journal of Integrative Agriculture 2020年第8期19卷 2035-2043页

作者： Sher MUHAMMAD Muhammad SAJJAD Sultan Habibullah KHAN Muhammad SHAHID Muhammad ZUBAIR Faisal Saeed AWAN Azeem iqbal KHAN Muhammad Salman MUBARAK Ayesha TAHIR Muhammad UMER Rumana KEYANI Muhammad InamAFZAl Irfan MANZOOR Javed Iqbal WATTOO Aziz-ur REHMAN Department of Bioinformatics and Biotechnology GC UniversityFaisalabad 38090Pakistan Department of Biosciences COMSATS University Islamabad(CUI)Islamabad 45550Pakistan Centre of Agricultural Biochemistry and Biotechnology(CABB) University of AgricultureFaisalabad 38000Pakistan Department of Plant Breeding and Genetics University of AgricultureFaisalabad 38000Pakistan Department of Biotechnology Faculty of Life SciencesUniversity of Central PunjabLahore 54000Pakistan Wheat Research Institute Ayub Agricultural Research Institute(AARI)Faisalabad 38950Pakistan

Stripe rust is a continuous threat to wheat crop all over the *** causes considerable yield losses in wheat crop every *** deployment of adult plant resistance(APR)genes in newly developing wheat cultivars is the most judicious strategy to combat this ***,we dissected the genetics underpinning stripe rust resistance in Pakistani wheat *** association panel of 94 spring wheat genotypes was phenotyped for two years to score the infestation of stripe rust on each accession and was scanned with 203 polymorphic *** on D’measure,linkage disequilibrium(lD)exhibited between loci distant up to 45 c ***-trait associations(MTAs)were determined using mixed linear model(MlM).Total 31 quantitative trait loci(QTls)were observed on all 21 wheat *** QTls were newly discovered as well as 19 QTls and 35 previously reported Yr genes were validated in Pakistani wheat *** major QTls were ***.2 Al and ***.3 BS(PVE,11.9%).Dissection of genes from the newly observed QTls can provide new APR genes to improve genetic resources for APR resistance in wheat crop.

关键词： wheat Puccinia striiformis lD GWAS MTA PCoA

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织物和静电极板参数对静电吸附力的影响分析

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丝绸 2024年第4期61卷 71-78页

作者：王青党帅盛晓超吕绪山姜越夫赵恬恬西安工程大学机电工程学院西安710048

为了明确织物和静电极板参数对静电吸附力的影响规律,为服装软面料的静电吸附式抓取提供理论支撑,文章开展织物参数和静电极板参数对静电吸附力影响规律的系统性研究。首先建立纬编织物结构模型及静电吸附力理论模型,通过理论分析结果... 详细信息

为了明确织物和静电极板参数对静电吸附力的影响规律,为服装软面料的静电吸附式抓取提供理论支撑,文章开展织物参数和静电极板参数对静电吸附力影响规律的系统性研究。首先建立纬编织物结构模型及静电吸附力理论模型,通过理论分析结果和仿真结果的对比分析,验证仿真方法的有效性;接着基于Maxwell张量法推导了五层二维静电吸附力理论模型,分析静电吸附力模型结构参数对静电吸附力的影响规律,并得出结论:(1)静电吸附力和电极上施加电压的平方成正比;(2)织物密度越大,产生的静电吸附力越大;(3)绝缘层介电常数越大,静电吸附力越大;绝缘层厚度越大,静电吸附力越小;(4)随着极板占空比及电极间距的增大,静电吸附力均呈先增大后减小的趋势。

关键词：面料抓取织物建模叉指状电极静电极板静电吸附力 Maxwell

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Understanding pathophysiology / [edited by] Sue E. Huether, kathryn l. McCance ; section editors, Valentina l. Brashers, Neal S. Rote. 4th ed.

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2008年

作者： [edited by] Sue E. Huether kathryn l. McCance section editors Valentina l. Brashers Neal S. Rote.

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基于比例重复控制的MMC-SST子模块电容纹波电压抑制策略

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电力系统保护与控制 2024年第15期52卷 46-57页

作者：王要强贾显益赖锦木陈天锦吕忠涛梁军郑州大学电气与信息工程学院河南郑州450001 河南省电力电子与电力系统工程技术研究中心河南郑州450001 许继电源有限公司河南许昌461000 河南省智能充电技术重点实验室河南许昌461000 国网呼伦贝尔供电公司内蒙古呼伦贝尔021000 卡迪夫大学工程学院英国卡迪夫CF243AA

基于模块化多电平变换器的固态变压器(modular multilevel converter based solid state transformer,MMC-SST)是实现交直流混合配电网柔性互联及能量多向流动的关键装备。针对固态变压器输入级MMC子模块电容纹波电压过大,导致装置的体... 详细信息

基于模块化多电平变换器的固态变压器(modular multilevel converter based solid state transformer,MMC-SST)是实现交直流混合配电网柔性互联及能量多向流动的关键装备。针对固态变压器输入级MMC子模块电容纹波电压过大,导致装置的体积和成本增加的问题,提出一种基于比例重复控制的MMC-SST改进纹波电压抑制策略。首先利用基于比例重复控制的电容电压闭环得到调整后的功率移相角。然后,通过双有源桥变换器将子模块电容纹波功率传递到低压直流母线,从而有效抑制MMC子模块的各频次纹波电压,达到减小电容值的目的。最后,仿真结果表明在网侧电压对称或不对称工况下,基于比例重复控制的MMC-SST子模块电容纹波电压抑制策略均具有良好的纹波电压抑制能力。

关键词：固态变压器模块化多电平变换器电容纹波抑制波动功率传递比例重复控制桥臂电流控制

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Effect of porosity on active damping of geometrically nonlinear vibrations of a functionally graded magneto-electro-elastic plate

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Defence Technology（防务技术） 2022年第6期18卷 891-906页

作者： l.Sh Esayas Subhaschandra Kattimani Department of Mechanical Engineering National Institute of Technology KarnatakaSurathkal575025India

This paper investigates the effect of porosity on active damping of geometrically nonlinear vibrations(GNlV)of the magneto-electro-elastic(MEE)functionally graded(FG)plates incorporated with active treatment constricted layer damping(ATClD)*** perpendicularly/slanted reinforced 1-3 piezoelectric composite(1-3 PZC)constricting *** constricted viscoelastic layer of the ATClD is modeled in the time-domain using Golla-Hughes-Mc Tavish(GHM)*** types of porosity distribution in the porous magneto-electro-elastic functionally graded PMEE-FG plate graded in the thickness *** the coupling effects among elasticity,electrical,and magnetic fields,a three-dimensional finite element(FE)model for the smart PMEE-FG plate is obtained by incorporating the theory of layer-wise shear *** geometric nonlinearity adopts the von K arm an *** study presents the effects of a variant of a power-law index,porosity index,the material gradation,three types of porosity distribution,boundary conditions,and the piezoelectric fiber’s orientation angle on the control of GNlV of the PMEE-FG *** results reveal that the FG substrate layers’porosity significantly impacts the nonlinear behavior and damping performance of the PMEE-FG plates.

关键词： Nonlinear vibration Magneto-electro-elastic(MEE)plates Active treatment constricted layer damping(ATClD) Porosity distribution Porous functionally graded

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A new method for retrieving equivalent cloud base height and equivalent emissivity by using the ground-based Atmospheric Emitted Radiance Interferometer (AERI)

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Science China Earth Sciences 2013年第1期56卷 43-53页

作者： PAN linJun lü DaRen laboratory for Middle Atmosphere and Global Environment Observation (lAGEO) Institute of Atmospheric Physics Chinese Academy of Sciences Graduate University of Chinese Academy of Sciences

In the paper, we propose a new method of identifying the clear sky based on the Atmospheric Emitted Radiance Interferometer （AERI）. Using the Atmospheric Radiation Measurement （arm） Mobile Facility （AFM） dataset in Shouxian in 2008, we sim- ulate the downwelling radiances on the surface in the 8-12 μm window region using line-By-line Radiative Transfer Model （lBlRTM）, and compare the results with the AERI radiances, The differences larger （smaller） than 3 mW （cm2 sr cm-1）-1 suggest a cloudy （clear） sky. Meanwhile, we develop the new algorithms for retrieving the zenith equivalent cloud base height （CBHe） and the equivalent emissivity （ee）, respectively. The retrieval methods are described as follows. （1） An infinitely thin and isothermal blackbody cloud is simulated by the lBlRTM. The cloud base height （H） is adjusted iteratively to satisfy the situation that the contribution of the blackbody to the downwelling radiance is equal to that of realistic cloud. The final H is considered as CBHe. The retrieval results indicate that the differences between the CBHe and observational cloud base height （CBH） are much smaller for thick low cloud, and increase with the increasing CBH. （2） An infinitely thin and isothermal gray body cloud is simulated by the lBlRTM, with the CBH specified as the observed value. The cloud base emissivity （co） is ad- justed iteratively until the contribution of the gray body to the downwelling radiance is the same as that of realistic cloud. The corresponding εc is εe. The average εe for the low, middle, and high cloud is 0.967, 0.781, and 0.616 for the 50 cases, respec- tively. It decreases with the increasing CBH. The retrieval results will be useful for studying the role of cloud in the radiation budget in the window region and cloud parameterizations in the climate model.

关键词： AERI lBlRTM equivalent cloud base height equivalent emissivity

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