Live birth following the first mutation specific pre-implantation genetic diagnosis for haemophilia A

2006 ◽  
Vol 95 (02) ◽  
pp. 373-379 ◽  
Author(s):  
Edward Tuddenham ◽  
Cathy Turner ◽  
Ben Lavender ◽  
Stuart Lavery ◽  
Katerina Michaelides
Keyword(s):  
Live Birth ◽  
Genetic Diagnosis ◽  
Proteinase K ◽  
Amplification Efficiency ◽  
Haemophilia A ◽  
Singleton Pregnancy ◽  
Single Nucleotide ◽  
History Of ◽  
First Time ◽  
Selection Of

SummaryHaemophilia A is an X-linked, recessive, inherited bleeding disorder which affects 1 in 5000 males born worldwide. It is caused by mutations in the FactorVIII (F8) gene on chromosome Xq28. We describe for the first time two mutation specific, single cell protocols for pre-implantation genetic diagnosis (PGD) of haemophilia A that enable the selection of both male and female unaffected embryos. This approach offers an alternative to sexing, frequently used for X-linked disorders, that results in the discarding of all male embryos including the 50% that would have been normal. Two families witha history of severe haemophilia A requested carrier diagnosis and subsequently proceeded to PGD. The mutation in family1 isa single nucleotide substitution c. 5953C>T, R1966X in exon 18 and in family 2, c. 5122C>T, R1689C in exon 14 of the F8 gene. Amplification efficiency was compared between distilled water and SDS/proteinase K cell lysis (98.0%, 96/98 and 80%, 112/140 respectively) using 238 single lymphocytes. Blastomeres from spare IVF cleavage-stage embryos donated for research showed amplification efficiencies of 83.3% (45/54) for the R1966X and 92.9% (13/14) for the R1689C mutations. The rate of allele dropout (ADO) on heterozygous lymphocytes was 1.1% (1/93) for R1966X and 5.94% (6/101) for R1689C mutations. A single PGD treatment cycle for family1 resulted in two embryos for transfer but these failed to implant. However, with family 2, two embryos were transferred to the uterus on day 4 resulting in a successful singleton pregnancy and subsequent live birth of a normal non-carrier female.

scholarly journals On Eminescu’s philosophy of history: towards an English anthology of relevant texts

2020 ◽  
Vol 3 (1) ◽  
pp. 241-258
Author(s):  
Catalin Pavel
Keyword(s):  
Nineteenth Century ◽  
Philosophy Of History ◽  
Complex Interplay ◽  
History Of ◽  
Academic Philosophy ◽  
Per Se ◽  
First Time ◽  
Selection Of ◽  
Historical Thought

The present paper aims to offer Anglophone researchers a selection of translated quotes from Mihai Eminescu’s non-literary oeuvre, relevant to the philosophy of history of the most complex Romanian author of the nineteenth century. It should thus become possible to reconsider Eminescu’s position within the concert of European philosophers of history. The fragments gathered here stem mainly from his activity as a cultural and political journalist, throughout which he voiced, albeit unsystematically, his views on history. Although he did not ultimately articulate an academic philosophy of history per se, these fragments, now available in English for the first time, may give valuable insights into Eminescu’s conception of history. Above all else, they meaningfully complement whatever can be gleaned from Eminescu’s already translated poetry or literary prose. Hopefully the fragments presented here will aid scholars in establishing more precisely what Eminescu’s views on history owe to Schopenhauer’s metaphysics and what to the proper philosophy of history he could find in Hegel. This is a double allegiance scholars have also recognized in Maiorescu’s work. By the same token, it would further be important to chart Eminescu’s ambivalence towards Hegel, an ambivalence also visible in the works of Romanian philosopher Vasile Conta. Finally, the fragments below may help to bring to the fore the complex interplay between Hegelian theodicy and Kantian teleology in Eminescu’s historical thought.

scholarly journals Novel Genetic Polymorphisms That Further Delineate the Phylogeny of the Mycobacterium tuberculosis Complex

2006 ◽  
Vol 188 (12) ◽  
pp. 4271-4287 ◽  
Author(s):  
Richard C. Huard ◽  
Michel Fabre ◽  
Petra de Haas ◽  
Luiz Claudio Oliveira Lazzarini ◽  
Dick van Soolingen ◽  
...  
Keyword(s):  
Mycobacterium Tuberculosis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genomic Deletions ◽  
History Of ◽  
Species Specific ◽  
Mycobacterium Africanum ◽  
Mycobacterium Microti ◽  
First Time ◽  
Fine Tune

ABSTRACT In a previous report, we described a PCR protocol for the differentiation of the various species of the Mycobacterium tuberculosis complex (MTC) on the basis of genomic deletions (R. C. Huard, L. C. de Oliveira Lazzarini, W. R. Butler, D. van Soolingen, and J. L. Ho, J. Clin. Microbiol. 41:1637-1650, 2003). That report also provided a broad cross-comparison of several previously identified, phylogenetically relevant, long-sequence and single-nucleotide polymorphisms (LSPs and SNPs, respectively). In the present companion report, we expand upon the previous work (i) by continuing the evaluation of known MTC phylogenetic markers in a larger collection of tubercle bacilli (n = 125), (ii) by evaluating additional recently reported MTC species-specific and interspecific polymorphisms, and (iii) by describing the identification and distribution of a number of novel LSPs and SNPs. Notably, new genomic deletions were found in various Mycobacterium tuberculosis strains, new species-specific SNPs were identified for “Mycobacterium canettii,” Mycobacterium microti, and Mycobacterium pinnipedii, and, for the first time, intraspecific single-nucleotide DNA differences were discovered for the dassie bacillus, the oryx bacillus, and the two Mycobacterium africanum subtype I variants. Surprisingly, coincident polymorphisms linked one M. africanum subtype I genotype with the dassie bacillus and M. microti with M. pinnipedii, thereby suggesting closer evolutionary ties within each pair of species than had been previously thought. Overall, the presented data add to the genetic definitions of several MTC organisms as well as fine-tune current models for the evolutionary history of the MTC.

Roman History

2015 ◽  
Vol 62 (2) ◽  
pp. 237-241
Author(s):  
Lucy Grig
Keyword(s):  
Literary Tradition ◽  
Roman History ◽  
Ancient History ◽  
Clear Case ◽  
Classical Studies ◽  
History Of ◽  
Lively Debate ◽  
First Time ◽  
Selection Of ◽  
Future Reference

Let's start at the very beginning: that is, at the beginning of the history of Rome. This latest volume of the Oxford Readings in Classical Studies makes a clear case for the virtue of reprinting old articles even in an age of supposedly wide digital availability. An obvious virtue here is the fact this collection includes no fewer than seven articles that have been translated into English for the first time. In making this collection, the editors hope to show the continuing lively debate on the nature of the ancient historiographical tradition. Rather than taking a particular editorial line, the collection includes scholars with differing views as to the reliability of this tradition when it comes to early Roman history. That being said, it is not surprising that scholarship that aims wholeheartedly to uphold the historicity of the traditional accounts is definitely outnumbered by studies demonstrating instead the construction of historiographical tradition(s). Nonetheless, Andrea Carandini begins the collection by arguing once more for the congruence of the archaeological evidence and the literary tradition. The articles that follow vary somewhat in approach and in degrees of scepticism – for instance, Fausto Zevi admits a historical core to stories about Demoratus and the Tarquins, whereas Michael Crawford is forthright in his rejection of historicity in the earliest list of Roman colonies. The editors have taken the helpful decision to focus rather more on ‘stories’ than individual authors and this certainly helps shape a thought-provoking collection that can be read with profit rather than just put on the shelf for future reference. In particular, the editors’ suggestion that this volume could profitably be given to students in place of a single ‘authoritative’ version of the history of early Rome, so that they can see that there are indeed different ways of ‘doing’ ancient history, is persuasive. Finally, any selection of papers is, of course, subjective but an article focusing rather more particularly on non-literary historical traditions might have rounded out the picture more fully.

scholarly journals First description of two immune escape indian B.1.1.420 and B.1.617.1 SARS-CoV2 variants in France

2021 ◽  
Author(s):  
Vincent Garcia ◽  
Veronique Vig ◽  
Laurent Peillard ◽  
Alaa Ramdani ◽  
Sofiane Mohamed ◽  
...  
Keyword(s):  
Immune Escape ◽  
Close Monitoring ◽  
Infected People ◽  
Gene Coding ◽  
Fast Spreading ◽  
History Of ◽  
Travel Abroad ◽  
First Time ◽  
Induced Immunity ◽  
Selection Of

Following the outbreak of the SARS-CoV2 virus worldwide in 2019, the rapid widespread overtime of variants suggests today an undergoing positive selection of variants which could potentially provide advantageous genetic property of the virus. Numerous variants have already been described across different countries including N501Y, E484K or L452R mutations on gene coding to spike protein. Most recently, 2 new Indian variants with N440K and E484Q and L452R mutations associated with impaired antibody response and immune reactions were identified in India. The potential consequences of emerging variants are increased transmissibility, increased pathogenicity and the ability to escape natural or vaccine-induced immunity. We described for the first time in France both variants: the N440K immune escape variant within a new strain detected in France in a couple of patients who did not have any history of travel abroad and the new E484Q and L452R Indian variant from a patient travelling from Indian to Marseille to embark on a ship as a crew member. Such study of the circulating viral strains and their variants within the increasing number of infected people worldwide will provide further insights into the viral dissemination. Hence, real time close monitoring variant could help the scientific community to prevent fast-spreading and raise alarms towards potentially harmful variants.

scholarly journals Whose Gaze? Stories Told between Kabul, Herat and Berlin

2020 ◽  
Vol 11 (1) ◽  
pp. 61-77
Author(s):  
Sandra Schäfer
Keyword(s):  
Women Filmmakers ◽  
Film Festival ◽  
History Of ◽  
Women's Cinema ◽  
Gender And Society ◽  
First Time ◽  
Selection Of

This visual essay focuses on contemporary women’s cinema in Afghanistan, which started in 2001, when, for the first time, women made films in Afghanistan. They narrate stories from their perspectives, and choose different filmic means, characters and genres to tell their stories. With a selection of film stills and photographs, this visual essay introduces the work of these women filmmakers. The images are accompanied by text that describes the contents and the making of their films. Text includes quotations from filmmakers reflecting on their practice. The directors whose work I present are, among others, Roya Sadat, Saba Sahar, Diana Saqeb and Aiqela Rezaie. As some of the filmmakers also work as actresses, I draw an arc into the changeful history of Afghan cinema and the role women played as actresses in these films. The essay highlights the period between 2002 and 2009, when I worked in Kabul making my film Passing the Rainbow and co-organising the film festival SPLICE IN on Gender and Society.

Opera Evangelica: A Lost Collection of Christian Apocrypha

2021 ◽  
Vol 67 (3) ◽  
pp. 356-387
Author(s):  
Tony Burke ◽  
Gregory Peter Fewster
Keyword(s):  
Eighteenth Century ◽  
English Language ◽  
Rare Book ◽  
Cambridge University ◽  
University Of Toronto ◽  
History Of ◽  
The University ◽  
First Time ◽  
Material Form ◽  
Selection Of

Within the holdings of the Thomas Fisher Rare Book Library at the University of Toronto there is a curious, rarely examined handwritten book entitled Opera Evangelica, containing translations of several apocryphal works in English. It opens with a lengthy Preface that provides an antiquarian account of Christian apocrypha along with a justification for translating the texts. Unfortunately, the book's title page gives little indication of its authorship or date of composition, apart from an oblique reference to the translator as ‘I. B.’ But citations in the Preface to contemporary scholarship place the volume around the turn of the eighteenth century, predating the first published English-language compendium of Christian apocrypha in print by Jeremiah Jones (1726). A second copy of the book has been found in the Cambridge University Library, though its selection of texts and material form diverges from the Toronto volume in some notable respects. This article presents Opera Evangelica to a modern audience for the first time. It examines various aspects of the work: the material features and history of the two manuscripts; the editions of apocryphal texts that lie behind its translations; the views expressed on Christian apocrypha by its mysterious author; and its place within manuscript publication and English scholarship around the turn of the eighteenth century. Scholars of Christian apocrypha delight in finding ‘lost gospels’ but in Opera Evangelica we have something truly unique: a long-lost collection of Christian apocrypha.

scholarly journals A Wireless World. One Hundred Years since the Nobel Prize to Guglielmo Marconi

2012 ◽  
Keyword(s):  
Wireless Communications ◽  
Cultural Heritage ◽  
Nobel Prize ◽  
Scientific Education ◽  
Huge Impact ◽  
History Of ◽  
Guglielmo Marconi ◽  
The One ◽  
First Time ◽  
Selection Of

The volume is dedicated to the one hundred years since Guglielmo Marconi was awarded the Nobel Prize (1909). The choice of honoring Marconi in this centennial occasion stems from the huge impact that wireless communications had on society. The book is divided into four parts covering the life of Marconi and his environment up to the Nobel Prize: "Part I – Documents," comprehends four contributions tightly linked to the Nobel Prize awarding to Marconi in 1909. "Part II - Marconi road to the Nobel Prize," proposes some deepening on the work of Marconi before his Nobel Prize, relevant to his scientific education and to particular and not well known events in the years of his first experiments. "Part III - Marconi's contemporary and later related scientists," presents Ferdinand Braun, who shared the Nobel Prize with Marconi, as well as other scientists related to wireless communications. "Part IV - Devices and collections in Sweden and Italy," shows a selection of the cultural heritage, Italian and Swedish, about the history of telecommunications engineering. The book presents several images and illustrations, some of which published here for the first time.

The GAKhN Dictionary: An Introduction

October ◽  
2017 ◽  
Vol 162 ◽  
pp. 39-40
Author(s):  
Devin Fore
Keyword(s):  
Visual Arts ◽  
The State ◽  
History Of ◽  
First Time ◽  
Selection Of

Devin Fore introduces the GAKhN Dictionary of Artistic Terms (1923–29), a selection of which is published in translation here for the first time. After a brief history of the State Academy of Artistic Sciences (GAKhN), which was established in 1921 and dissolved in 1930, Fore situates the unfinished collaboration between the academy's Section of Visual Arts and the Philosophical Department in the context of GAKhN's larger commitment to democratizing knowledge, and he suggests that what emerges from these dictionary entries are the contours of a program for a positivist aesthetics.

scholarly journals The York Gospels: a one thousand year biological palimpsest

2017 ◽  
Author(s):  
Matthew D. Teasdale ◽  
Sarah Fiddyment ◽  
Jiří Vnouček ◽  
Valeria Mattiangeli ◽  
Camilla Speller ◽  
...  
Keyword(s):  
Sampling Technique ◽  
Cost Effective ◽  
Biological Data ◽  
Biological Information ◽  
Non Invasive ◽  
The Reformation ◽  
Small Collection ◽  
History Of ◽  
First Time ◽  
Selection Of

AbstractMedieval manuscripts, carefully curated and conserved, represent not only an irreplaceable documentary record but also a remarkable reservoir of biological information. Palaeographic and codicological investigation can often locate and date these documents with remarkable precision. The York Gospels (York Minster Ms. Add. 1) is one such codex, one of only a small collection of pre-conquest Gospel books to have survived the Reformation. By extending the non-invasive triboelectric (eraser-based) sampling technique eZooMS, to include the analysis of DNA we report a cost effective and simple-to-use biomolecular sampling technique. We apply this combined methodology to document for the first time a rich palimpsest of biological information contained within the York Gospels, which has accumulated over the 1,000 year lifespan of this cherished object that remains an active participant in the life of York Minster. This biological data provides insights into the decisions made in the selection of materials, the construction of the codex and the use history of the object.

scholarly journals Historiographer and novelist-historiographer. Letters from D. S. Merezhkovsky to P. E. Shchegolev

Literary Fact ◽  
2021 ◽  
pp. 108-132
Author(s):  
Alexander V. Lavrov
Keyword(s):  
Main Topic ◽  
Historical Materials ◽  
Liberation Movement ◽  
The World ◽  
Current Events ◽  
History Of ◽  
Relationship Of ◽  
First Time ◽  
The Relationship ◽  
Selection Of

The publication is devoted to the relationship of Dmitry Merezhkovsky, one of the main authors of Russian modernism, and Pavel Shchegolev, an outstanding specialist in the history of the liberation movement and the socio-politi- cal life of Russia in the 18 th  –19 th centuries. For the first time, 15 letters from Merezh- kovsky to Shchegolev (1905 –1914) are published. Along with a discussion of current events in the world of literature and journalism, the main topic of the correspondence is Merezhkovsky's work on historical compositions  – the drama “Paul I”, the novels “Alexander I”, “December 14”. Shchegolev actively helped the writer in the selection of historical materials, provided copies of archival files of the investigation and tri- al of the Decembrists; he was impressed by Merezhkovsky's strict documentary ap- proach to the recreation of the heroes and the era of Alexander and Nikolay. The letters and scientific commentary highlight the contradictory perception of Merezhkovsky's works by contemporary Russian criticism.

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