Книги з теми "Cst Genes"
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1
Hubbell, Sue. Shrinking the cat: Genetic engineering before we knew about genes. Boston: Houghton Mifflin, 2001.
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2
Amram, David. Upbeat: Nine lives of a musical cat. Boulder: Paradigm Publishers, 2008.
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3
Clauser, Marina, Andrea Grigioni, and Mario Landi, eds. Peperoncini. Florence: Firenze University Press, 2010. http://dx.doi.org/10.36253/978-88-8453-951-9.
Повний текст джерелаАнотація:
The chili pepper is a spice and medicinal remedy used since ancient times by the American peoples who were the first to undertake the domestication of 5 species belonging to the genus Capsicum (Solanaceae): Capsicum (Solanaceae): Capsicum annuum, C. baccatum, C. chinense, C. frutescens e C. pubescens. After the sixteenth century the chili pepper became similarly popular in other continents and today the five species number many reference pod-types and over 3,000 varieties. The book describes their uses in the different spheres of cuisine (aromatic, spicy and colourful), medicine (antioxidant and digestive for internal use, rubefacient and anti-rheumatic for external use) and ornamentation (cut branches, floral compositions, border plants, splashes of colour).
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1953-, Carlstedt-Duke J., Eriksson Håkan, and Gustafsson Jan-Åke, eds. The steroid/thyroid hormone receptor family and gene regulation: Proceedings of the 2nd International CBT Symposium, Stockholm, Sweden, November 4-5, 1988. Basel: Birkhäuser, 1989.
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5
Hubbell, Sue. Shrinking the Cat: Genetic Engineering Before We Knew About Genes. Mariner Books, 2002.
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6
Hubbell, Sue. Shrinking the Cat: Genetic Engineering Before We Knew About Genes. Houghton Mifflin, 2001.
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7
Hubbell, Sue. Shrinking the Cat: Genetic Engineering Before We Knew About Genes. Houghton Mifflin Company, 2002.
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8
Kühn, Wolfgang, and Gerd Walz. The molecular basis of ciliopathies and cyst formation. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0303.
Повний текст джерелаАнотація:
Abnormalities of the cilium, termed ‘ciliopathies’, are the prime suspect in the pathogenesis of renal cyst formation because the gene products of cystic disease-causing genes localize to them, or near them. However, we only partially understand how cilia maintain the geometry of kidney tubules, and how abnormal cilia lead to renal cysts, and the diverse range of diseases attributed to them. Some non-cystic diseases share pathology of the same structures. Although still incompletely understood, cilia appear to orient cells in response to extracellular cues to maintain the overall geometry of a tissue, thereby intersecting with the planar cell polarity (PCP) pathway and the actin cytoskeleton. The PCP pathway controls two morphogenetic programmes, oriented cell division (OCD) and convergent extension (CE) through cell intercalation that both seem to play a critical role in cyst formation. The two-hit theory of cystogenesis, by which loss of the second normal allele causes tubular epithelial cells to form kidney cysts, has been largely borne out. Additional hits and influences may better explain the rate of cyst formation and inter-individual differences in disease progression. Ciliary defects appear to converge on overlapping signalling modules, including mammalian target of rapamycin and cAMP pathways, which can be targeted to treat human cystic kidney disease irrespective of the underlying gene mutation.
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Biloshytsky, Vadym, and Roman Cregg. Pioneering use of gene therapy for pain. Edited by Paul Farquhar-Smith, Pierre Beaulieu, and Sian Jagger. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198834359.003.0083.
Повний текст джерелаАнотація:
The landmark paper discussed in this chapter is ‘Gene therapy for pain: Results of a Phase I clinical trial’, published by Fink et al. in 2011. In this study, the first of its kind, researchers studied the efficacy and safety of a modified herpes simplex virus (HSV) vector used to deliver PENK, which encodes proenkephalin, which is cleaved into the enkephalin peptides Met-enkephalin and Leu-enkephalin, which induce analgesia by acting on opioid receptors. The development of the HSV vector was based in part on results studies in which adenovirus, adeno-associated virus, or non-viral vectors were used to overexpress genes. Overexpression of a variety of large molecules leads to a reduction in pain-related behaviour in animals. Gene therapy in the treatment of chronic pain seems to offer a promising alternative to systemic or highly invasive therapies. However, additional research is needed to determine the safety, effectiveness, and cost-efficiency of this approach.
10
Fonder, Tom. Business Cat: Hostile Takeovers. Andrews McMeel Publishing, 2019.
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11
Fonder, Tom. Business Cat: Hostile Takeovers. Andrews McMeel Publishing, 2019.
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12
Fonder, Tom. Business Cat: Hostile Takeovers. Andrews McMeel Publishing, 2019.
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13
Fonder, Tom. Business Cat: Hostile Takeovers. Andrews McMeel Publishing, 2019.
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14
Fonder, Tom. Business Cat: Money, Power, Treats. Andrews McMeel Publishing, 2016.
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15
Fonder, Tom. Business Cat: Money, Power, Treats. Andrews McMeel Publishing, 2016.
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16
Fonder, Tom. Business Cat: Money, Power, Treats. Andrews McMeel Publishing, 2016.
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17
Business Cat: Money, Power, Treats. Andrews McMeel Publishing, 2016.
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18
Kanno, Hiroshi, and Joachim P. Steinbach. Familial tumour syndromes: von Hippel–Lindau disease. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199651870.003.0016.
Повний текст джерелаАнотація:
Von Hippel–Lindau (VHL) disease, an autosomal dominant familial tumour syndrome, is often associated with haemangioblastoma of the central nervous system. In the presence of oxygen, VHL protein serves to prevent the accumulation of hypoxia-inducible factor (HIF) protein by targeting it to the proteasomal pathway, while biallelic inactivation of the VHL gene blocks degradation of HIF and leads to constitutive activation of the HIF pathway although oxygen is present. HIF-target genes are involved in angiogenesis, proliferation, and metabolism enabling tumour growth. Haemangioblastoma is a highly vascularized, begin tumour commonly associated with a cyst, but it is linked with neurological morbidity and mortality based on its location and multiplicity. Haemangioblastoma in VHL is diagnosed according to symptoms and signs, past and family histories, laboratory data, neuroradiological findings, pathological findings, and genetic testing. Surgical treatment is usually the most recommended therapy for haemangioblastomas, and using well-defined microsurgical techniques, the majority can be resected safely.
19
(Foreword), Frank McCourt, ed. Upbeat: Nine Lives of a Musical Cat. Paradigm Publishers, 2007.
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20
Foggensteiner, Lukas, and Philip Beales. Bardet–Biedl syndrome and other ciliopathies. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0314.
Повний текст джерелаАнотація:
Ciliopathies encompass a genotypically complex and phenotypically variable and overlapping series of disorders that makes the general term ‘ciliopathies’ very useful. The genes behind these conditions encode parts of the machinery of the primary cilium. This is also true of the major cystic kidney disorders autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease, but the ‘long tails’ of other ciliopathies are characterized by variable nephropathy (often without cyst formation), retinopathy, and effects on brain and skeletal development. Not all have substantial renal phenotypes. Bardet–Biedl syndrome (BBS) is an autosomal dominant condition characterized by obesity, retinopathy, nephropathy, and learning difficulty, but renal abnormalities are varied and end-stage renal failure occurs in only a minority. Many BBS genes have been described. Alström syndrome is a rare recessive disorder again associated with obesity and retinopathy, but also deafness and dilated cardiomyopathy. Renal failure is a common but later feature. Joubert syndrome is an autosomal dominant condition but can arise from mutations in at least 10 genes. It has a wide phenotypic variation with a common link being hypodysplasia of the cerebellar vermis and other abnormalities giving rise to the ‘molar tooth sign’ on cerebral magnetic resonance imaging scanning, associated with hypotonia in infancy, central ataxia, ocular apraxia, developmental delay, and varying degrees of cognitive impairment. Jeune syndrome is a recessive condition characterized by osteochondrodysplasia which can give rise to hypodevelopment of the chest wall known as suffocating thoracic dystrophy, in addition to other manifestations.
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Flinter, Frances. Ethical aspects of genetic testing. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0301_update_001.
Повний текст джерелаАнотація:
The increasing availability of genetic tests is transforming health care. Patients can benefit from earlier, more precise diagnosis and sometimes tailor-made treatment; their relatives can be offered pre-symptomatic, predictive tests and carrier tests. Physicians must balance confidentiality with duty to other individuals, and are responsible for using genetic tests for the benefit of patients in an ethical way. An offer of testing must balance potential additional benefit from potential downsides of testing including psychological effects, risk of error, continuing uncertainty, and cost. The ability to do multiple tests on many genes, even to sequence the whole genome, is rapidly approaching, and mainstreaming of tests means that geneticists are not necessarily involved. Further work and thinking needs to inform medical ethics in this area.
22
Piecing it!: Paper piecing patterns (Scrap happy guides). Design Originals, 2000.
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23
Bergmann, Carsten, and Klaus Zerres. Autosomal dominant polycystic kidney disease in children and young adults. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0312.
Повний текст джерелаАнотація:
Many children with autosomal dominant polycystic kidney disease have renal cysts on ultrasound, some are even being diagnosed antenatally, although the statistics on this are not well understood. Most are asymptomatic but hypertension may be more common than generally appreciated, and a minority of patients develop early renal failure. The cause of early presentations is probably often inheritance of a hypomorphic allele on another gene implicated in cyst formation, or in cilia. Extrarenal manifestations of polycystic kidney disease are very rare in childhood.
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Graves, Tracey. Neurogenetic disease. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0223.
Повний текст джерелаАнотація:
There are many genetic diseases which affect the nervous system. Although some of these are extremely rare, several are quite common and, as a group, they comprise a significant proportion of neurological disease. Almost all clinical neurological syndromes can have a genetic cause. Not all of these have been genetically elucidated, but some have been extensively characterized in terms of clinical phenotype, molecular genetics, and cellular pathophysiology. Given the improvement in laboratory techniques and subsequent reduction in the cost of direct DNA sequencing, there is likely to be a rapid expansion over the next decade in the identification of causative genes and hence the availability of genetic tests. Thus, all clinicians should have a basic understanding about genetic disease; inheritance patterns; availability of genetic tests; genetic counselling; and ethics. Particular subspeciality areas where neurogenetic disease is common include neuromuscular disease and movement disorders.
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de Koning, Tom J. Serine Deficiency. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0023.
Повний текст джерелаАнотація:
Serine deficiency is a rare cause of intractable seizures and severe psychomotor retardation in infants and young children. However, in recent years it has become clear that serine deficiency in adolescents and adults can give rise to milder forms of seizure disorders and mild mental retardation or to a phenotype with severe progressive polyneuropathy. Serine deficiency can be diagnosed on the basis of low values of serine in plasma and CSF using routine amino acid analysis. However, with the introduction of next generation sequencing in clinical diagnostics the majority of patients are diagnosed through molecular testing of the three genes of the synthesis pathway. L-serine therapy is highly effective in the treatment of seizures and improvement of wellbeing and daily activities. Early diagnosis and timely treatment are important to prevent irreversible damage to the central or peripheral nervous system.
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Rucker, James J. H., and Peter McGuffin. Copy Number Variation in Neuropsychiatric Disorders. Edited by Turhan Canli. Oxford University Press, 2013. http://dx.doi.org/10.1093/oxfordhb/9780199753888.013.005.
Повний текст джерелаАнотація:
It has long been known that the human genome is subject to deletion and duplication of genetic material by various molecular mechanisms. Until recently, such events were assumed to be relatively rare phenomena. It is now known that submicroscopic deletions or duplications calledcopy number variants(CNVs) are a major source of genomic variation. Rare CNVs (defined as occurring in less than 1 percent of the population) have been implicated in schizophrenia and autism. Measured in terms of odds ratios, individual CNVs have been shown to have large effects, some increasing the risk of disorder several-fold. But they are incompletely penetrant, no one CNV is either necessary or sufficient to cause the disorder. The findings are less clear-cut with bipolar disorder but, here, too, rare CNVs probably play a role. In unipolar depression, initial evidence suggests an overall increase in rare CNVs that disrupt exons, the coding regions of genes.
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Morgan Wortham, Simon. Fleeced: Derrida and ‘the Deciding Discourse of Castration’. Edinburgh University Press, 2018. http://dx.doi.org/10.3366/edinburgh/9781474429603.003.0005.
Повний текст джерелаАнотація:
This chapter explores the relationship of deconstruction to psychoanalysis, and reads the Genet column of Glas in terms of the deconstructibility of ‘the deciding discourse of castration’, as Derrida puts it. The fleece that Genet imagines Harcamone wearing in The Miracle of the Rose takes centre stage, as much as Genet’s flowers. The fleece is both garb and pelt, at once a talismanic scalp, a part that has been brutally cut away, and a covering used to shield or shelter what is vulnerable or exposed. It is both something stolen, and a protective barrier against loss. To get ‘fleeced’ already carries a double and ambiguous set of possible meanings, then, and Derrida puts it to work in the interests of a double-sexed deconstruction of castratability. If the erection cannot ‘fall’ without re-elevating the entire edifice or column of that phallogocentrism of which castration would paradoxically form an uncastratable part, Derrida’s insertion of a deconstructive ‘hole in erection’ exposes to a powerfully deciphering reading this tale of castration’s uncastratability. The chapter reads into the Hegel column of Glas precisely this deconstructibility of a ‘deciding discourse of castration’, notably in terms of the Hegelian interpretation of Antigone’s politics.
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Kandawasvika-Nhundu, Rumbidzai. Participation et représentation des femmes : Le rôle des partis politiques. International Institute for Democracy and Electoral Assistance (International IDEA), 2022. http://dx.doi.org/10.31752/idea.2022.7.
Повний текст джерелаАнотація:
Tous les accords et engagements internationaux de référence reconnaissent et affirment la nécessité de corriger les inégalités entre les genres et d’éliminer toutes les formes de discrimination à l’égard des femmes de tous âges dans tous les domaines de la vie, y compris la présence et la représentation aux postes à responsabilités et dans la prise de décisions à tous les niveaux. Les principes du droit à l’égalité et de l’interdiction de la discrimination, qui sont à la base de l’égalité des genres et de la participation et de la représentation politiques des femmes dans la vie politique et la prise de décisions, sont inscrits dans la Charte des Nations Unies. Les partis politiques restent les principales entités à travers lesquelles les citoyens peuvent choisir leurs représentants et ils représentent des institutions indispensables à la politique et à la représentation démocratiques. Ce document a été élaboré par Rumbidzai Kandawasvika-Nhundu, Conseillère principale, Démocratie et Inclusion, IDEA International, pour la réunion du groupe d’experts d’ONU Femmes du 5 au 8 octobre 2020, dans le cadre des préparatifs de la 65e session de la Commission de la condition de la femme (CSW) de 2021.
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True Love Cast Out All Evil: The Songwriting Legacy of Roky Erickson. Texas A&M University Press, 2021.
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30
Tennant, Neil. Transmission of Truthmakers. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780198777892.003.0009.
Повний текст джерелаАнотація:
We begin by introducing the formal genus ‘conditional M-relative construct’, of which M-relative truthmakers and falsitymakers, and core proofs, are species. Fortunately they can stand in symbiotic relations, even though they cannot hybridize. We aim to generalize the earlier method we used in order to prove Cut-Elimination, so that the inputs P for the binary operation [P,P′] can be truthmakers (whereas P′ remains a core proof); and so that the reduct itself, when it is finally determined by recursive application of all the transformations called for, is a truthmaker for the conclusion of P′. This result can be understood as revealing that formal semantics can be carried out in a kind of infinitary proof-theory. Core proof transmits truth courtesy of normalization.
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Klepper, Joerg, and Baerbel Leiendecker. Glut1 Deficiency. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0005.
Повний текст джерелаАнотація:
Glut1 Deficiency (Glut1D, OMIM #606777) is caused by impaired glucose transport into the brain. The resulting cerebral “energy crisis” causes intractable seizures, developmental delay, and a complex movement disorder. The diagnosis is based on clinical features, low CSF glucose and/or mutations in the SLC2A1 gene. Paroxysmal exertion-induced dystonia (PED) and hereditary cryohydrocytosis have been described as allelic variants. Adults are increasingly being recognized through family pedigrees. The condition is effectively treatable by mimicking the metabolic state of fasting. High-fat carbohydrate-restricted ketogenic diets generate ketones that serve as an alternative fuel for the brain. In adults with Glut1D, novel modified ketogenic diets can be used, allowing more carbohydrates and greater palatability and compliance.
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Posner, Richard A. Catastrophe. Oxford University Press, 2004. http://dx.doi.org/10.1093/oso/9780195178135.001.0001.
Повний текст джерелаАнотація:
Catastrophic risks are much greater than is commonly appreciated. Collision with an asteroid, runaway global warming, voraciously replicating nanomachines, a pandemic of gene-spliced smallpox launched by bioterrorists, and a world-ending accident in a high-energy particle accelerator, are among the possible extinction events that are sufficiently likely to warrant careful study. How should we respond to events that, for a variety of psychological and cultural reasons, we find it hard to wrap our minds around? Posner argues that realism about science and scientists, innovative applications of cost-benefit analysis, a scientifically literate legal profession, unprecedented international cooperation, and a pragmatic attitude toward civil liberties are among the keys to coping effectively with the catastrophic risks.
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Velasco, Raquel. La novela corta en conflicto: Cinco ensayos alrededor de la incertidumbre. Universidad Veracruzana, 2020. http://dx.doi.org/10.25009/uv.2442.1526.
Повний текст джерелаАнотація:
Literary genres are elusive; we cannot pretend to pass through them, attributing one classification or another to literary works; but they are useful, especially now that we are beyond the rigid conceptions of gender inherited from traditional studies. The reader has in his hands a serious analysis, documented, that approaches literary works from the category of the short novel without imposing absolute visions, precisely because its starting point is that it is the genre of uncertainty. Mariano Azuela, Juan Rulfo, Rodolfo Walsh, Julio Cortázar, Roberto Bolaño, Juan Pablo Villalobos, are some of the memorable writers of short novels that have given a particular profile and destiny to the genre in Latin America. Raquel Velasco studies these authors to cast a new light on the way these works exist in a convulsive and chaotic world.
34
Pieroni, Raphaël. Politiques urbaines de la nuit. Entre cultures festives et nuisances sonores à Genève. Éditions Alphil-Presses universitaires suisses, 2022. http://dx.doi.org/10.33055/alphil.03188.
Повний текст джерелаАнотація:
« Après 10 jours d’hospitalisation, la victime vit avec une balle dans les fesses », titre un quotidien suisse à propos d’une fusillade à la sortie d’une discothèque de Genève. Le tireur est un riverain de l’établissement ; exaspéré par les bruits d’une rixe aux portes du lieu en question, il a sorti son fusil de chasse pour mettre un terme aux nuisances. Espace-temps de la ville où cultures festives et nuisances sonores se trouvent en tension, la nuit est tel un baril de poudre, explosant à chacun des heurts entre riverains, tenanciers d’établissements publics, artistes, musiciens et noctambules. Cet ouvrage revient sur l’histoire récente de la construction d’une politique de la nuit à Genève. Il montre comment celles-ci s’inspirent d’expériences conduites dans d’autres villes suisses ou étrangères pour répondre aux problèmes publics nocturnes. Si les politiques urbaines de la nuit ne sont pas chose nouvelle, leur multiplication récente au sein d’échanges mondialisés est un phénomène inédit allant fortement croissant. L’enjeu majeur est de permettre à la nuit de demeurer cet espace-temps de rencontre, de sociabilité, de liberté dans lequel nous expérimentons et construisons nos relations et identités en tous genres. Un objectif qui ne saura être atteint sans initiatives innovantes, entre autres en termes de protection, d’égalité et d’accessibilité
35
Maslon, Laurence. Broadway to Main Street. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780199832538.001.0001.
Повний текст джерелаАнотація:
The crossroads where the music of Broadway met popular culture was an expansive and pervasive juncture throughout most of the twentieth century and continues to influence the cultural discourse of today. Broadway to Main Street: How Show Music Enchanted America details how Americans heard the music from Broadway on every Main Street across the country over the last 125 years, from sheet music, radio, and recordings to television and the Internet. The original Broadway cast album—from the 78 rpm recording of Oklahoma! to the digital download of Hamilton—is one of the most successful, yet undervalued, genres in the history of popular recording. The phenomenon of how show tunes penetrated the American consciousness came not only from the original cast albums but from interpreters such as Frank Sinatra and Barbra Streisand, impresarios such as Rudy Vallee and Ed Sullivan, and record producers such as Johnny Mercer and Goddard Lieberson. The history of Broadway music is also the history of American popular music; the technological, commercial, and marketing forces of communications and media over the last century were inextricably bound up in the enterprise of bringing the musical gems of New York’s Theater District to millions of listeners from Trenton to Tacoma, and from Tallahassee to Toronto.
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Venn, Edward, and Philip Stoecker, eds. Thomas Adès Studies. Cambridge University Press, 2021. http://dx.doi.org/10.1017/9781108761451.
Повний текст джерелаАнотація:
Thomas Adès is a dominant force in contemporary music, whose work attracts significant attention and acclaim, and has been performed by many renowned ensembles. This volume – the first to present a range of scholarly essays on every aspect of Adès's music – offers authoritative accounts of Adès's major compositions from a variety of analytical, critical, cultural and historical perspectives. The opening chapters focus on Adès's earlier music, offering close readings of key works. Further essays focus on his engagement with forms and instrumental genres. The final chapters turn to Adès's texted music and highlight how themes introduced in earlier chapters cut across Adès's entire output. Richly illustrated with musical examples and supported by further online material, this book provides a multi-faceted portrait of Adès's work that opens up new ways of thinking about, and engaging with, his music.
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Raz, Gil, and Anna Shields. Religion and Poetry in Medieval China. Amsterdam University Press, 2023. http://dx.doi.org/10.5117/9789463721172.
Повний текст джерелаАнотація:
This volume of interdisciplinary essays examines the intersection of religion and literature in medieval China, focusing on the impact of Buddhism and Daoism on a wide range of elite and popular literary texts and religious practices in the 3rd-11th centuries CE. Drawing on the work of the interdisciplinary scholar Stephen Bokenkamp, the essays weave together the many cross-currents of religious, intellectual, and literary traditions in medieval China to provide vivid pictures of medieval Chinese religion and culture as it was lived and practiced. The contributors to the volume are all highly regarded experts in the fields of Chinese poetry, Daoism, Buddhism, popular religion, and literature. Their research papers cut across imagined disciplinary boundaries to show that the culture of medieval China can only be understood by close reading of texts from multiple genres, traditions, and approaches.
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Ong, Albert C. M., and Timothy Ellam. Autosomal dominant polycystic kidney disease. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0307_update_001.
Повний текст джерелаАнотація:
Autosomal dominant polycystic kidney disease (ADPKD) is responsible for up to 10% of prevalent patients with end-stage renal disease (ESRD). It is characterized by the enlargement of multiple bilateral renal cysts, present in almost all patients by their fifth decade. Loin pain is a common symptom that may be caused by cyst growth, intracyst haemorrhage, nephrolithiasis, or infection. Gross haematuria is also a common feature, but usually settles spontaneously. Excretory impairment develops after extensive cystic change has occurred and progresses to ESRD in half of all affected patients by the age of 60. However, the onset of cystic change and rate of renal functional decline are highly variable between individuals. ADPKD associated with the PKD1 gene has an earlier average age of cyst development and ESRD than PKD2, but the two cannot be distinguished on clinical grounds. Polycystins 1 and 2 are expressed in various organs and extrarenal disease may be the presenting feature. Intracranial aneurysms are five times more common in patients with ADPKD, but rupture is infrequent. Liver cysts are present in most patients and may be complicated by haemorrhage or infection, though liver failure is very rare. Massive hepatic cystic disease is confined to women, reflecting stimulatory effects of oestrogen on hepatic cyst growth. Cardiovascular disease is the leading cause of death in ADPKD and vascular dysfunction is present in many patients even before the development of excretory impairment. However, despite the multisystem manifestations of ADPKD, survival from ESRD is better for patients with ADPKD than for other non-diabetic causes of kidney failure.
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Magnusson, Lynne. Shakespearean Tragedy and the Language of Lament. Edited by Michael Neill and David Schalkwyk. Oxford University Press, 2016. http://dx.doi.org/10.1093/oxfordhb/9780198724193.013.8.
Повний текст джерелаАнотація:
This chapter identifies the passionate lament as one of the characteristic speech genres of tragedy. It suggests that Shakespeare’s exploratory engagement with the rhetoric of grief is as important as his interest in the soliloquy, the speech genre more usually cast as the typifying linguistic innovation of his tragedies. Five aspects of this rhetoric of grief are addressed in turn by means of examples drawn from Titus Andronicus, Richard III, Hamlet, and the Quarto Lear: that is, (1) the lament as grandiloquent set speech developing conventions from Seneca and Elizabethan dramatic tradition, (2) as occasion for copious variation and oratorical persuasion developing the educational capital of grammar-school rhetorical training, (3) as dialogic interaction exploring a potentially transformative pragmatics of pity or sympathetic identification, (4) as imitated passion of classical predecessors creating effects of individuated subjectivity, and (5) as transaction with the theatre audience.
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Lehmann, Courtney. Can the Subaltern Sing? Edited by James C. Bulman. Oxford University Press, 2017. http://dx.doi.org/10.1093/oxfordhb/9780199687169.013.21.
Повний текст джерелаАнотація:
Completed in 1966, Liz White’s Othello is the first and only Shakespeare film directed by a black woman, as well as the first cinematic adaptation of a Shakespeare play to feature an all-black cast and crew. When production began in 1962, White was intent on using her landmark adaptation to assert a place for women within the male-dominated black nationalist movements of the 1960s. By focusing on the (mis)treatment of women in Othello, White links their struggle—or lack thereof—to the double displacement of black women within the burgeoning civil rights movement. Particularly in this context, it seems counter-intuitive that White would draw upon conventions from one of the most conservative cinematic genres—the American film musical—to generate an alternative set of signifying practices for articulating civil rights claims and for chronicling the historical process whereby women become the vanishing mediators of social ‘progress’…
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Gibson, K. Michael, Cornelis Jakobs, and Philip L. Pearl. Succinic Semialdehyde Dehydrogenase Deficiency. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0029.
Повний текст джерелаАнотація:
Succinic semialdehyde dehydrogenase (SSADH) deficiency presents with intellectual disability, disproportionate deficit in expressive language, hypotonia, ataxia, and seizures.1,2 (1 Pearl et al 2011; 2 Vogel et al 2012). A diagnosis of autism spectrum disorder frequently occurs, correlated with neuropsychiatric morbidity (ADHD, OCD, PDD). 1,3 The biochemical hallmark, γ-hydroxybutyric acid (GHB), is elevated in physiological fluids, as is γ-aminobutyrate (GABA) in cerebrospinal fluid (CSF).4,5 Both species are neuroactive. Clinical manifestations are universally present in early childhood, although diagnosis delayed to adulthood has been reported.6 Acute decompensation or complications relate primarily to seizures, intercurrent illnesses sometimes associated with respiratory dysfunction in the setting of hypotonia, or adverse medication responses. Diagnostic confirmation requires urine organic acid analysis (increased GHB) with confirmation via enzyme assay (white cells) and/or molecular characterization of the aldehyde dehydrogenase 5a1 (ALDH5A1) gene.
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Forsyth, Rob, and Richard Newton. Neurodiagnostic tools. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198784449.003.0002.
Повний текст джерелаАнотація:
This chapter explains the principles of how best to use the main diagnostic tools in paediatric neurology in the context of evidence-based medicine. The description of neuroradiology includes the principles of DWI, SWI, MRS, ASL and fMRI, and the usefulness of ultrasound, CT and PET scanning; neuroradiological anatomy, terminology, common incidental findings and normal myelination patterns. An approach to white matter and developmental brain abnormalities is depicted. Neurogenetic testing discusses the capabilities and limitations of microarray for Comparative Genomic Hybridization (copy-number variants), gene panel testing, and whole exome and whole genome next generation sequencing. The chapter offers the theory, practicality and pitfalls of electroencephalography, peripheral neurophysiology and evoked potential testing. Common practical procedures are described, including lumbar puncture, muscle biopsy and shunt tapping with an understanding of the place of special investigations on CSF, blood, urine, and skin. The scope of neuropsychological testing is described.
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Hellman, Samuel. Academic Medicine. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190650551.003.0003.
Повний текст джерелаАнотація:
The proper education of a doctor must not be restricted to the sciences but rather must include study of the humanities and the social sciences. This is best achieved by having an interactive and physically integrally located medical school. Not only must medicine be based on modern biology, a biology education is also essential for all college undergraduates. One cannot consider genetic engineering if one does not understand what a gene is and how it is controlled. Unique to medical education are the places of medical practice. Besides providing a site of learning, the teaching hospital must provide excellent patient care and be responsive to the surrounding community. The university must embrace these other goals. Society should provide high quality health care for all. This cannot be achieved if only the lowest cost is the goal. While resources are limited, economic efficiency cannot be the only parameter.
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Liede-Schumann, Sigrid, Ulrich Meve, Gildas Gâteblé, Gabrielle Barriera, and Silvio Fici. Apocynaceae pro parte, Phellinaceae, Capparaceae : Flore de la Nouvelle Calédonie, volume 27. Publications scientifiques du Muséum, Paris ; IRD, Marseille, 2020. http://dx.doi.org/10.5852/fft49.
Повний текст джерелаАнотація:
L’exceptionnelle richesse floristique de la Nouvelle-Calédonie est mondialement connue. Plus de 3 400 espèces de plantes vasculaires indigènes y sont répertoriées, dont les trois-quarts sont endémiques de l’archipel. L’endémisme ne concerne pas seulement les espèces, mais aussi les genres (près d’une centaine) et même trois familles. La diversité se décline aussi sur le plan écologique, en lien avec l’histoire géologique originale de la Nouvelle-Calédonie, qui a favorisé le micro-endémisme et les espèces inféodées aux substrats ultramafiques. De nouvelles espèces continuent à être découvertes, aussi reste-t-il nécessaire de poursuivre prospections et recherches botaniques, afin de mieux comprendre l’origine et l’évolution de cette flore, et contribuer à sa préservation. Le présent volume regroupe trois familles d’Angiospermes. Celle des Apocynaceae dont la classification a été profondément remaniée depuis la publication en 1981 du fascicule « Apocynaceae », volume 10 de la Flore de la Nouvelle-Calédonie et Dépendances : les trois sous-familles traitées ici (Periplocoideae, Secamonoideae et Asclepiadoideae) formaient auparavant la famille des Asclepiadaceae. Les Phellinaceae qui, avec 10 espèces ligneuses, constituent l’une des trois familles endémiques du territoire. Enfin, la Nouvelle-Calédonie héberge quelques espèces de la famille cosmopolite des Capparaceae, toutes appartenant au genre du câprier (Capparis). Conformément à la ligne éditoriale de la collection, cet ouvrage comporte, pour chaque famille traitée indépendamment : une présentation générale suivie de descriptions détaillées des genres et des espèces ; des clés d’identification, en français et en anglais ; une illustration variée comprenant des dessins au trait et des photographies des plantes vivantes ; des cartes de répartition et une évaluation des besoins de conservation selon les critères de l’UICN.
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Klepper, Joerg. Glut1 Deficiency and the Ketogenic Diets. Edited by Eric H. Kossoff. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190497996.003.0005.
Повний текст джерелаАнотація:
Glucose is the essential fuel for the brain. Transport into brain is exclusively mediated by the facilitative glucose transporter Glut1. Glut1 deficiency results in a “brain energy crisis,” causing global developmental delay, epilepsy, and complex movement disorders including paroxysmal nonepileptic events. Early-onset absence epilepsy, paroxysmal exertion-induced dystonia, and stomatin-deficient cryohydrocytosis have been recognized as variants. Diagnosis is based on phenotype, isolated low CSF glucose, and mutations in the SLC2A1 gene. The condition is treated effectively by classical ketogenic diets providing ketones as an alternative fuel for the brain. The modified Atkins diet in adolescents and adults improves palatability and compliance at the expense of lower ketosis. Dietary treatment is continued into adolescence to meet the energy demand of the developing brain, raising concerns about long-term adverse effects. Current fields of research include novel compounds such as ketoesters and genetic approaches in Glut1-deficient mice as potential treatment options.
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Tucker, Lauryl. Unexpected Pleasures. Liverpool University Press, 2022. http://dx.doi.org/10.3828/liverpool/9781949979688.001.0001.
Повний текст джерелаАнотація:
Unexpected Pleasures traces a new lineage of modern and contemporary British writers who cast an ironic eye on their genres and make queer use of literary convention. Teasing out the parodic sensibility of writers like Woolf, Bowen, Selvon, Sayers, Stella Gibbons, and Zadie Smith, I take a fresh look at the throwback, the hidebound, the predictable, and the “funny” works that excessively obey the rules of genre and oversupply the pleasurable illusion of power that genre confers. I argue that these excesses weaken the reader’s predictive power over the text, and that this shaken expectation exposes and queers a broader set of assumptions about desire, resolution, and futurity that structure social and generic norms. The parodies I examine are queer not only in their liberatory challenge to gendered and sexual norms, but also in the way that their critique resists becoming merely anti-conventional: Rather than eliding the conventions of gender and genre and mocking glibly at both, these works dwell on how conventionality itself accrues meaning, what kinds of expectations we attach to it, and what we might hope for instead.
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Whitehead, Kevin. Play the Way You Feel. Oxford University Press, 2020. http://dx.doi.org/10.1093/oso/9780190847579.001.0001.
Повний текст джерелаАнотація:
This book—both a narrative and a film directory—surveys and analyzes English-language feature films (and a few shorts and TV shows/movies) made between 1927 and 2019 that tell stories about jazz music, its musicians, its history and culture. Play the Way You Feel looks at jazz movies as a narrative tradition with recurring plot points and story tropes, whose roots and development are traced. It also demonstrates how jazz stories cut across diverse genres—biopic, romance, musical, comedy and science fiction, horror, crime and comeback stories, “race movies” and modernized Shakespeare—even as they constitute a genre of their own. The book is also a directory/checklist of such films, 67 of them with extensive credits, plus dozens more shorter/capsule discussions. Where jazz films are based on literary sources, they are examined, and the nature of their adaptation explored: what gets retained, removed, or invented? What do historical films get right and wrong? How does a film’s music, and the style of the filmmaking itself, reinforce or undercut the story?
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Schindler, Thomas E. A Hidden Legacy. Oxford University Press, 2021. http://dx.doi.org/10.1093/oso/9780197531679.001.0001.
Повний текст джерелаАнотація:
This biography of Esther Zimmer Lederberg highlights the importance of her research work, which revealed the unique features of bacterial sex, essential for our understanding of molecular biology and evolution. A Hidden Legacy relates how, she and her husband Joshua Lederberg established the new field of bacterial genetics together, in the decade leading up to the discovery of the DNA double helix. Their impressive series of achievements include: the discovery of λ bacteriophage and of the first plasmid, known as the F-factor; the demonstration that viruses carry bacterial genes between bacteria; and the elucidation of fundamental properties of bacterial sex. This successful collaboration earned Joshua the 1958 Nobel Prize, which he shared with two of Esther’s mentors, George Beadle and Edward Tatum. Esther Lederberg’s contributions, however, were overlooked by the Nobel committee, an example of institutional discrimination known as the Matilda Effect. Esther Lederberg should also have been recognized for inventing replica plating, an elegant technique that she originated by re-purposing her compact makeup pad as a kind of ink stamp for conveniently transferring bacterial colonies from one petri dish to another. Instead, the credit for the invention is given to her famous husband, or, at best, to Dr. and Mrs. Lederberg. Within a few years of winning the Nobel Prize, Joshua Lederberg divorced his wife, leaving Esther without a laboratory, cut off from research funding, and facing uncertain employment. In response, she created a new social circle made up of artists and musicians, including a new soulmate. She devoted herself to a close-knit musical ensemble, the Mid-Peninsula Recorder Orchestra, an avocation that flourished for over forty years, until the final days of her life.
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Tandon, Teena, and Rajiv Agarwal. Hypertension as a cause of chronic kidney disease. Edited by David J. Goldsmith. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0100.
Повний текст джерелаАнотація:
There is a strong association between hypertension and progressive renal disease, and it has long been assumed that a variable but often large proportion of end-stage renal disease is caused by essential hypertension damaging the kidney. While it is clear that malignant hypertension can cause renal damage, several lines of evidence cast doubt on the idea that more moderate blood pressures are commonly a primary cause of renal disease. These include (a) observational studies showing that microalbuminuria precedes hypertension; (b) morphological studies in animals and man suggest that changes traditionally described as due to hypertension correlate poorly with blood pressure; and (c) mutations in or near the APOL1 gene appear to underlie the development of renal disease in many black Americans previously labeled as suffering from hypertensive renal disease. The same mutations strongly predispose to focal segmental glomerulosclerosis. The mechanism of the association with ‘hypertensive’ renal disease is not established but it may act as a risk factor for progression of renal disease. Hypertension is associated with reduced renal mass. It is described as a consequence of renal cysts, simple as well as multiple. Obesity may be associated with accumulation of fat in the renal sinus and with hypertension.
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Mungons, Kevin, and Douglas Yeo. Homer Rodeheaver and the Rise of the Gospel Music Industry. University of Illinois Press, 2021. http://dx.doi.org/10.5622/illinois/9780252043840.001.0001.
Повний текст джерелаАнотація:
Homer Rodeheaver rose to national prominence in the early 20th century as the trombone-playing songleader for Billy Sunday. For twenty years they captured attention with city-wide revival meetings, a mix of sincere devotion, popular religion, and modern marketing methods. In an era when music styles were emerging as marketable genres, Rodeheaver created a brand of gospel music that cast an enormous influence on popular music. Borrowing from evangelical hymns, African American spirituals, and popular music, he built a publishing empire in Chicago, selling hymnals as a way to encourage community singing. When tabernacle revivalism declined after World War I, Rodeheaver shifted to other ventures, bolstered by his personal popularity in a growing celebrity culture. He started the first gospel record label in 1920, then shifted to radio, where his community sing programs ran on three national networks. Near the end of his life, he strongly influenced Billy Graham and Cliff Barrows, the next generation of evangelical revivalists. The authors explore the birth of the commercial Christian music industry and its roots in congregational singing—its early rise as a communal, populist form that would later divide into racial and regional distinctions known as southern gospel and black gospel. As the first major biography of Homer Rodeheaver, the book explores the impact of racial segregation, the influence of technology, and the consequences of commercial Christian music.