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Long term follow-up of a family with GUCY2D dominant cone dystrophy

International Journal of Ophthalmology(English edition) 2018年第12期11卷 1945-1950页

作者： Georgios Tsokolas Hussein Almuhtaseb Helen Griffiths Fatima Shawkat Reuben J.Pengelly sarah ennis Andrew Lotery Clinical and Experimental Sciences University of Southampton Eye Unit University Hospital Southampton Human Genetics & Genomic Medicine Faculty of Medicine University of Southampton

AIM: To describe long term follow-up in a family with GUCY2D dominant cone dystrophy. METHODS: Optical coherence tomography scans and fundus autofluorescence images were obtained. Flash and pattern electroretinograms(ERGs) and occipital pattern reversal visual evoked potentials were recorded. RESULTS: Two members of the same family(father and son) were identified to have the heterozygous R838 C mutation in the GUCY2D gene. The father presented at the age of 45 with bilateral bull’s eye maculopathy and temporal disc pallor. Over 13 y of serial follow up visits, the bull’s eye maculopathy progressed gradually into macular atrophy. Electrophysiological tests were significantly degraded suggesting poor macular function. Spectraldomain optical coherence tomography(SD-OCT) scans showed progressive loss and disruption of the ellipsoid layer at the foveal level. His son presented at the age of 16 with bilateral granular retinal pigment epithelial changes in both maculae. Electrophysiological testing was initially borderline normal but has gradually deteriorated to show reduced cone ERGs and macula function. SD-OCT demonstrated gradual macular thinning and atrophy bilaterally. Unlike his father, there was no disruption of the ellipsoid ***: Both family members exhibited gradual changes in their fundi, electrophysiological testing and multimodal imaging. Changes were milder than those observed in other mutations of the same gene.

关键词： autofluorescence electroretinogram cone dystrophy cone-rod dystrophy GUCY2D spectral-domain optical coherence tomography visual evoked potential

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X-Linked Dominant Congenital Ptosis Cosegregating with an Interstitial Insertion of a Chromosome 1p21.3 Fragment into a Quasipalindromic Sequence in Xq27.1

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Open Journal of Genetics 2014年第6期4卷 415-425页

作者： David J. Bunyan David O. Robinson Anthony G. Tyers Shuwen Huang Vivienne K. Maloney Francis H. Grand sarah ennis Samantha R. de Silva John A. Crolla Tristan F. W. McMullan Wessex Regional Genetics Laboratory Salisbury District Hospital Salisbury UK Human Genetics Division Southampton University School of Medicine Southampton UK Ophthalmology Department Salisbury District Hospital Salisbury UK Manchester Centre for Genomic Medicine Saint Mary’s Hospital Manchester UK Genetic Epidemiology and Genomic Informatics Group Faculty of Medicine University of SouthamptonSouthampton UK Oxford Eye Hospital John Radcliffe Hospital Oxford UK Ophthalmology Department Northampton General Hospital Northampton UK

Blepharoptosis (ptosis) is defined as the abnormal drooping of the upper eyelid and is a feature of many conditions. It can be in isolated or syndromic form, bilateral or unilateral and congenital or acquired. Previously we have carried out linkage analysis on a family with dominantly inherited congenital bilateral isolated ptosis and found the condition to be linked to a region of approximately 20 megabases of chromosome Xq24-Xq27.1 with a cumulative LOD score of 5.89. We now describe further analysis using array comparative genomic hybridisation (array CGH), fluorescence in situ hybridisation (FISH), long range PCR and sequencing. This has enabled us to identify and characterise at the level of DNA sequence an insertional duplication and rearrangement involving chromosomes 1p21.3 and a small quasipalindromic sequence in Xq27.1, disruption of which has been associated with other phenotypes but which is cosegregating with X-linked congenital bilateral isolated ptosis in this family. This work highlights the significance of the small quasipalindromic sequence in genomic rearrangements involving Xq27.1 and the importance of comprehensive molecular and molecular cytogenetic investigations to fully characterise genomic structural complexity.

关键词： Ptosis X-Linked Dominant Insertional Duplication

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Blood biomarkers of Alzheimer’s disease:important considerations for use in clinical practice

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Neural Regeneration Research 2025年第1期20卷 205-206页

作者： sarah Fullam Sean O’Dowd Antoinette O’Connor Department of Neurology Tallaght University HospitalDublinIreland Academic Unit of Neurology Trinity College DublinIreland

Introduction:Fluid and positron emission tomography(PET)biomarkers that enable the detection of the hallmark proteins of Alzheimer’s disease(AD)(amyloid and tau)have revolutionized our approach to the diagnosis of *** evolution of AD diagnostic criteria to include biological characterization(Alzheimer’s Association Working Group,2023)provides an appropriate framework to reduce levels of clinico-pathologic mismatch and improve in-vivo diagnostic *** the therapeutic landscape for neurodegenerative disease evolves,it is increasingly incumbent on clinicians to provide timely,and pathologically precise diagnoses for ***,the expensive and invasive nature of these tests limits their scalability.

关键词： Blood Alzheimer diagnosis

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Apportioning aldehydes:Quantifying industrial sources of carbonyls

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Journal of Environmental Sciences 2015年第4期27卷 132-134页

作者： sarah A.Styler Leibniz Institute for Tropospheric Research

In their recent Journal of Environmental Sciences publication,Wang and colleagues provide field evidence that industrial activities can contribute substantially to atmospheric carbonyl concentrations（Wang et al.,2015）.These results may helpto explain underestimations of carbonyl emissions in currently available emission inventories,and highlight the need for an improved understanding of industrial sources of this class of compounds.

关键词： Carbonyl compounds Source apportionment Industrial emissions

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Ultrasound for Detection of Ascites and for Guidance of the Paracentesis Procedure: Technique and Review of the Literature

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International Journal of Clinical Medicine 2014年第20期5卷 1277-1293页

作者： Josh ennis Geoffrey Schultz Phillips Perera sarah Williams Laleh Gharahbaghian Diku Mandavia Division of Emergency Medicine Stanford University Medical Center Stanford USA Emergency Professional Services Phoenix USA Department of Emergency Medicine LAC+USC Medical Center Los Angeles USA

Objective: To review the use of ultrasound (US) for the detection of free intraperitoneal fluid (ascites) and for the procedural guidance of the paracentesis procedure. Methods: Two clinical vignettes are presented to review the pertinent diagnostic, management and safety considerations associated with paracentesis. First, US techniques used for the identification of ascites and in the quantification of fluid pockets amenable to aspiration will be discussed. Next, the actual steps required for the performance of US-guided paracentesis will be covered. A review and analysis of the most current literature regarding US and paracentesis then follows. Conclusion: Current literature favors US-guided paracentesis over the traditional blind technique with a significant reduction in both the rate of unsuccessful aspiration of fluid and in the bleeding complications related to this procedure. Use of US for both the diagnostic and therapeutic management of ascites should be advocated as an essential skill for physicians and other health care providers caring for these patients.

关键词： Ultrasound for Detection of Ascites and for Guidance of the Paracentesis Procedure: Technique and Review of the Literature

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Assessing the impact of network factors and Twitter data on Ethereum's popularity

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Blockchain(Research and Applications) 2023年第3期4卷 123-131页

作者： sarah Bouraga Namur Digital Institute(NADI) University of NamurBelgium

In March 2021,we witnessed a surge in Bitcoin *** cause seemed to be a tweet by Elon *** other blockchains as sensitive to social media as Bitcoin?And more precisely,could Ethereum's popularity be explained using social media data?This work aims to explore the determinants of Ethereum's *** use both data from Etherscan to retrieve the relevant historic Ethereum factors and Twitter *** sample consists of data ranging from 2015 to *** use Ordinary Least Squares to assess the relationship between these factors(Ethereum characteristics and Twitter data)and Ethereum's *** findings show that Ethereum's popularity—translated here by the number of daily new addresses—is related to the following elements:the Ether(ETH)price,the transaction fees,and the polarity of tweets related to *** results could have multiple practical implications for both researchers and *** of all,we believe that it will enable readers to better understand the technology of Ethereum and its ***,it will help the community identify pointers for anticipating or explaining the popularity of existing or future *** finally,the results could help in understanding the factors facilitating the design of future platforms.

关键词： Blockchain technology Ethereum Twitter data Platform's popularity

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The dawn and rise of antimony use in the southern Caucasus

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Science China Earth Sciences 2022年第11期65卷 2037-2056页

作者： sarah DILLIS Patrick DEGRYSE Department of Earth and Environmental Sciences Katholieke Universiteit LeuvenCelestjnenlaan 200 EHeverlee 3001Belgium Faculty of Archaeology Leiden UniversityEinsteinweg 2Leiden 2333 CCThe Netherlands

Antimony(Sb)was utilised over several millennia as the prime material to opacify or decolour glass and glazes,as well as an accompanying element in copper(Cu)*** antimony objects are rare,and mostly confined to Chalcolithic Central Italy and to the first millennia BCE in the southern *** innovation of antimony use in metallurgy seems to be confined to the southern Caucasus,and the invention of it might be even more specifically situated in the Great *** knowledge of mining set the pathway for the initial stage of antimonial copper alloys in the first half of the third millennium BCE and for metallic antimony ornaments in the second half of the third millennium ***,the first major expansion of antimony in the metallurgy of the Racha-Lechkumi district in the southern Caucasus(present-day Georgia)started around 1700 BCE,while its spreading in glassmaking occurred in the Late Bronze Age(LBA).Explanations that place antimony adoption within its broader social context are favoured over those that consider material or geological properties in isolation.A recurring theme is the importance of comparative analysis,both geographically and between the different pyrotechnologies,including the precious metals and glass industries,to explore how social,political,climatic and economic conditions affected adoption and innovation *** these factors are considered to explain why the extraction of antimony blossomed in the Late Bronze Age in the southern Caucasus and to reconstruct a framework of exploitation,distribution/trade and use of antimony in the Caucasus and its neighbouring regions in the south and east.

关键词： Antimony Caucasus Metallurgy Glass Gold

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Truth and consequences:the bioinvasion of the Mediterranean Sea

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Integrative Zoology 2012年第3期7卷 299-311页

作者： Bella sarah GALIL National Institute of Oceanography Israel Oceanographic and Limnological ResearchHaifaIsrael

Over 660 alien marine multicellular species have been recorded in the Mediterranean Sea,with many establishing viable populations and subsequently dispersing from their points of entry.A brief overview is presented of the current state of knowledge of bioinvasions in the Mediterranean Sea,with particular attention paid to gelatinous invasive species.A database of alien species records was used to characterize their identity,pattern of expansion and native region,and to discuss the relative importance of different taxa and vectors in the various regions of the *** temporal and spatial spread of 4 alien scyphozoans and 2 alien ctenophores is *** thermophilic species constitute the majority of Mediterranean aliens,Erythrean aliens are predominant in the east,with shipping and mariculture being mainly responsible for introductions in the *** propagule pressure driving the Erythrean invasion is powerful in the establishment and spread of alien species in the eastern *** implications of the enlargement of the Suez Canal,reflecting patterns in global trade and economy,are briefly ***,as alien species inventories play a pivotal role in informing regional policy and management decisions and identifying resource priorities,the scientific community is called upon to pay particular attention to their accuracy and veracity.

关键词： alien gelatinous inventories Mediterranean Sea trends vectors

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How plants grow up

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Journal of Integrative Plant Biology 2019年第3期61卷 257-277页

作者： sarah M McKim Division of Plant Sciences University of Dundee at The James Hutton Institute

A plant's lateral structures, such as leaves,branches and flowers, literally hinge on the shoot axis,making its integrity and growth fundamental to plant *** all plants, subapical proliferation within the shoot tip displaces cells downward to extrude the cylindrical *** the transition to flowering, many plants show extensive axial elongation associated with increased subapical proliferation and expansion. However, the cereal grasses also elongate their stems, called culms, due to activity within detached intercalary meristems which displaces cells upward, elevating the grain-bearing inflorescence. Variation in culm length within species is especially relevant to cereal crops, as demonstrated by the high-yielding semi-dwarfed cereals of the Green Revolution. Although previously understudied, recent renewed interest the regulation of subapical and intercalary growth suggests that control of cell division planes,boundary formation and temporal dynamics of differentiation, are likely critical mechanisms coordinating axial growth and development in plants.

关键词： plants grow up^FA lateral structures

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MULTI-USE RAIN GARDENS:BEST PRACTICE CASE STUDIES OF THE FINANCIALLY CHALLENGED AND CREATIVELY RICH

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Journal of Green Building 2015年第4期10卷 1-27页

作者： sarah Betts Bowling Green State University

INTRODUCTION Multiuse trails have been a prominent feature of park lands for many ***,multiuse rain gardens may become a prominent feature of many *** gardens have traditionally been used for catchment,retention,and filtration of impervious surface storm water *** can’t they be used for more?County park districts and other agencies across Ohio(and elsewhere)are being pushed more and more toward finding inexpensive creative multi-solutions to issues as a result of limited *** Gardens,bio-swales,butterfly gardens,nature education,natural play,and natural habitat creation all go hand-in-hand…naturally.

关键词： nature education wildlife monitoring habitat creation and enhancement wetland and prairie habitat creation impervious surface water detention and filtration rain barrel roof runoff catchment

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