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1
Masatoshi, Nei, red. Humanpolymorphic genes. New York: Oxford University Press, 1988.
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Roychoudhury, Arun K. Human polymorphic genes: World distribution. New York: Oxford University Press, 1988.
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Weir, B. S. Genetic data analysis II: Methods for discrete population genetic data. Sunderland, Mass: Sinauer Associates, 1996.
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Genetic data analysis: Methods for discrete population genetic data. Sunderland, Mass: Sinauer Associates, 1990.
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Millar, Anna L. Frequency estimation of endometrial cancer associated with microsatellite instability and mismatch repair gene defects. Ottawa: National Library of Canada, 1999.
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Royal Society (Great Britain). Discussion Meeting. Frequency-dependent selection: Proceedings of a Royal Society Discussion Meeting held on 24 and 25 June 1987. London: The Society, 1988.
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The Sir Arthur Conan Doyle Reader: From Sherlock Holmes to Spiritualism. New York: Cooper Square Press, 2002.
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Clarke, B. C., i Linda Partridge. Frequency-dependent Selection. The Royal Society, 1988.
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Hughes, Gene. Gene Hughes Police Call Frequency Guide: Codes, Maps, Trunking. United States Radio Data, 1988.
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Genetic Data Analysis 2: Methods for Discrete Population Genetic Data. Wyd. 2. Sinauer Associates, 1996.
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C, Clarke B., Partridge Linda i Royal Society (Great Britain), red. Frequency-dependent selection: Proceedings of Royal Society discussion meeting held on 24 and 25 June 1987. London: Royal Society, 1988.
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Introduction to Population Genetics: Theory and Applications. Oxford University Press, Incorporated, 2017.
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Franke, Barbara, i Jan K. Buitelaar. Gene–environment interactions. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198739258.003.0005.
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ADHD is highly heritable, but environmental factors also play significant roles in disease aetiology and outcome. Genetic and environmental influences are likely to show different types of interplay, with gene–environment interactions (G×E) playing a part. Different models of G×E exist, with the most frequently investigated in ADHD up to the present being the diathesis–stress and differential susceptibility models. The most frequently studied have been monoaminergic genes, often based on a single genetic variant. Only a single genome-wide study has been reported thus far. Environmental factors investigated include prenatal and postnatal risk factors for ADHD, in particular prenatal exposure to smoking or alcohol and aspects of parenting.
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Beattie, R. Mark, Anil Dhawan i John W.L. Puntis. Hirschsprung's disease. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569862.003.0039.
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Hirschprung's disease 280Neuronal intestinal dysplasia 281Intestinal pseudo-obstruction 281Hirschsprung's disease is the absence of ganglion cells in the myenteric plexus of the most distal bowel. Presentation is with constipation. Incidence is 1 in 5000. Long-segment Hirschsprung's disease is familial, with equal sex incidence. The gene is on chromosome 10. It is associated with Down's syndrome and there is a high frequency of other congenital abnormalities....
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Turner, Neil, Teena Tandon i Rajiv Agarwal. APOL1 and renal disease. Redaktor Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0341_update_001.
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Although apolipoprotein L1 (APOL1) is not known to be a direct cause of renal disease, it has emerged as a powerful cofactor in several important conditions. APOL1 gene polymorphisms account for the restriction of HIV-associated collapsing focal segmental glomerulosclerosis (FSGS) to those with African ancestry. In Africa, the disease-predisposing alleles seem to have been selected for because they convey resistance to some strains of trypanosomiasis. The same alleles are associated with increased susceptibility to primary FSGS, and are probably able to fully account for the excess of FSGS in black races. Two high-risk alleles have been labelled G1 and G2. To have increased susceptibility, individuals must usually have two copies, that is, it is recessive, but the gene frequency is high in West and Southern Africa and in those descended from those regions. The same alleles convey susceptibility to other more common renal diseases. Numerically the most significant association is with nephropathy previously attributed to hypertension. Recent evidence suggests that the gene may increase rate of progression in renal disease of various types, including diabetes. The mechanism is not known.
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Monani, Umrao R., i Darryl C. De Vivo. Spinal Muscular Atrophy. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0033.
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Spinal muscular atrophy (SMA) is a common, inherited, pediatric motor neuron disorder caused by insufficient SMN protein. As of yet, there is no good treatment for the disease. SMA has an incidence of ~1 in 10,000 newborns carrier frequency of 1 in 50, making it the most common inherited cause of infant mortality. Patients with severe SMA, or Werdnig-Hoffman disease, typically manifest weakness during the first 6 months of life. Such patients are so debilitated that they never sit independently, frequently succumbing to the disease before age 2 years. A much milder form of SMA, Kugelberg-Welander disease, with onset after 18 months of age, often during childhood and characterized by prolonged ambulation and a normal life expectancy, was described in 1956. In 1995 mutations in a novel gene, Survival of Motor Neuron 1 (SMN1), were determined to be the specific cause of SMA.
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(Editor), Montgomery Slatkin, i Michel Veuille (Editor), red. Modern Developments in Theoretical Population Genetics: The Legacy of Gustave Malecot. Oxford University Press, USA, 2002.
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Montgomery, Slatkin, i Veuille Michel, red. Modern developments in theoretical population genetics: The legacy of Gustave Malécot. Oxford: Oxford University Press, 2002.
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(Editor), Montgomery Slatkin, i Michel Veuille (Editor), red. Modern Developments in Theoretical Population Genetics: The Legacy of Gustave Malecot. Oxford University Press, USA, 2002.
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Paris, Joel. The Relationship Between Childhood Adversity and Borderline Personality Disorder. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199997510.003.0005.
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Borderline personality disorder (BPD) is often associated with adverse events in childhood. However, early adversity does not necessarily lead to BPD, and not all BPD patients have experienced childhood adversity. The key to understanding this relationship is gene-environment interaction. Children who are vulnerable by temperament are more severely affected by adverse events. This “double hit” is a risk for developing a personality disorder. The missing piece in research on adversity and BPD is longitudinal data. This could involve research in community samples, but the frequency of BPD as an outcome is not high enough to make that strategy effective. Instead, a high-risk strategy is called for, in which children identified as suffering from abuse and neglect are followed well into adulthood. These investigations will need to be multivariate and to take temperament into account.
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Rees, David. Haemoglobinopathies. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0172.
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Inherited abnormalities of the globin genes are the commonest single-gene disorders in the world and fall into two main groups: thalassaemias and sickle cell disease. Thalassaemias are due to quantitative defects in globin chain synthesis which cause variable anaemia and ineffective erythropoiesis. Thalassaemia was initially thought to be a disease of the bones due to uncontrolled bone marrow expansion causing bony distortion, although this is now unusual with appropriate blood transfusions. Osteopenia, often severe, is a feature of most patients with thalassaemia major and intermedia, caused by bone marrow expansion, iron overload, endocrinopathy, and iron chelation. Treatment with bisphosphonates is generally recommended. Other rheumatological manifestations include arthropathy associated with the use of the iron chelator deferiprone. Sickle cell disease involves a group of conditions caused by polymerization of the abnormal -globin chain, resulting in abnormal erythrocytes which cause vaso-occlusion, vasculopathy, and ischaemic tissue damage. The characteristic symptom is acute bone pain caused by vaso-occlusion; typical episodes require treatment with opiate analgesia and resolve spontaneously by 5 days with no lasting bone damage. The frequency of acute episodes varies widely between patients. The incidence of osteomyelitis is increased, particularly with salmonella, although it is much rarer than acute vaso-occlusion. Avascular necrosis can affect the hips, and less commonly the shoulders and knees. Coincidental rheumatological disease sometimes complicates the condition, particularly systemic lupus erythematosus (SLE) which is more prevalent in populations at increased risk of sickle cell disease.
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Rees, David. Haemoglobinopathies. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199642489.003.0172_update_001.
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Inherited abnormalities of the globin genes are the commonest single-gene disorders in the world and fall into two main groups: thalassaemias and sickle cell disease. Thalassaemias are due to quantitative defects in globin chain synthesis which cause variable anaemia and ineffective erythropoiesis. Thalassaemia was initially thought to be a disease of the bones due to uncontrolled bone marrow expansion causing bony distortion, although this is now unusual with appropriate blood transfusions. Osteopenia, often severe, is a feature of most patients with thalassaemia major and intermedia, caused by bone marrow expansion, iron overload, endocrinopathy, and iron chelation. Treatment with bisphosphonates is generally recommended. Other rheumatological manifestations include arthropathy associated with the use of the iron chelator deferiprone. Sickle cell disease involves a group of conditions caused by polymerization of the abnormal -globin chain, resulting in abnormal erythrocytes which cause vaso-occlusion, vasculopathy, and ischaemic tissue damage. The characteristic symptom is acute bone pain caused by vaso-occlusion; typical episodes require treatment with opiate analgesia and resolve spontaneously by 5 days with no lasting bone damage. The frequency of acute episodes varies widely between patients. The incidence of osteomyelitis is increased, particularly with salmonella, although it is much rarer than acute vaso-occlusion. Avascular necrosis can affect the hips, and less commonly the shoulders and knees. Coincidental rheumatological disease sometimes complicates the condition, particularly systemic lupus erythematosus (SLE) which is more prevalent in populations at increased risk of sickle cell disease.
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Baumann, Nicole, i Jean-Claude Turpin. Metachromatic Leukodystrophy. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0052.
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Metachromatic leukodystrophy can be observed in infantile, juvenile, and adult cases. It is due to deficiency of the enzyme sulfatide sulfatase arylsulfase A. The adult form includes two types—one characterized by predominantly central nervous system motor signs (mainly pyramidal and/or cerebellar) and a peripheral neuropathy, and the other presenting with behavioral abnormalities and progressive mental deterioration. Homozygosity for the P426L mutation is very frequent in motor forms of adult MLD and heterozygosity for the I179S is very frequently found in psychiatric forms. Hematopoietic stem cell transplantation or bone marrow transplantation is the only presently available therapy that attempts to treat the primary central nervous system manifestation of MLD, but substantial risk is involved and long-term effects are not clear. Potential therapeutic application of hematopoietic stem cell gene therapy and intracerebral gene transfer (brain gene therapy) are explored in infantile forms of patients with MLD.
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Kriemler, Susi. Exercise, physical activity, and cystic fibrosis. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199232482.003.0033.
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Cystic fibrosis (CF) is the most common genetic autosomal recessive disease of the Caucasian race, generally leading to death in early adulthood.1 The frequency of the gene carrier (heterozygote) is 1:20–25 in Caucasian populations, 1:2000 in African-Americans, and practically non-existent in Asian populations. The disease occurs in about 1 in every 2500 life births of the white population. Mean survival has risen from 8.4 years in 1969 to 32 years in 2000 due to improvements in treatment. The genetic defect causes a pathological electrolyte transport through the cell membranes by a defective chloride channel membrane transport protein [cystic fibrosis transmembrane conductance regulator (CFTR)]. With respect to the function, this affects mainly the exocrine glands of secretory cells, sinuses, lungs, pancreas, liver, and the reproductive tract of the human body leading to a highly viscous, water-depleted secretion. The secretion cannot leave the glands and in consequence causes local inflammation and destruction of various organs. The main symptoms include chronic inflammatory pulmonary disease with a progressive loss of lung function, exocrine and sometimes endocrine pancreas insufficiency, and an excessive salt loss through the sweat glands.1 A summary of the signs and symptoms of CF will be given with a special emphasis on the effect of exercise performance and capacity.
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Metin, Akay, i IEEE Engineering in Medicine and Biology Society., red. Time frequency and wavelets in biomedical signal processing. Piscataway, NJ: IEEE Press, 1998.
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Naicker, Saraladevi, i Graham Paget. HIV and renal disease. Redaktor Vivekanand Jha. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0187_update_001.
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The human immunodeficiency virus (HIV) infection epidemic has particularly affected the poorest regions of the world. HIV can directly or indirectly affect different aspects of renal function, and results in a variable expression of kidney disease.Acute kidney injury (AKI) occurs in approximately 20% of hospitalized patients. The prevalence of chronic kidney disease (CKD) amongst HIV-infected patients is reported at 3.5–38% in different regions of the world. The complex interplay between the pheno- and/or genotypic variants of the virus, the genetic make-up of the host, and environmental factors determine the clinical manifestations of renal disease. The association of APOL1 gene variants G1 and G2 with the risk of focal segmental glomerulosclerosis explains the high frequency of HIV-associated nephropathy (HIVAN) in populations of black ethnicity.Anti-retroviral therapy (ART) is effective in preventing progression of HIVAN. Some of the drugs used in ART regimens are potentially nephrotoxic and require dose adjustment or even avoidance in CKD. Progression to end-stage renal disease (ESRD) in HIVAN has been reported to correlate with the extent of chronic damage quantified by renal biopsy.HIV-infected patients requiring dialysis, who are stable on ART, are achieving survival rates comparable to those of non-HIV dialysis populations. Similarly, HIV infection does not seem to adversely affect patient and graft survival rates after kidney transplantation, and there has been no increase in the prevalence of opportunistic infections in transplant recipients on effective ART.
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Walsh, Bruce, i Michael Lynch. Using Molecular Data to Detect Selection: Signatures from Recent Single Events. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198830870.003.0009.
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Different types and phases of a selective sweep (hard, soft, partial, polygenic) generate different patterns of departures from neutrality, and hence require different tests. It is thus not surprising that a large number of tests have been proposed that use sequence information to detect ongoing, or very-recently completed, episodes of selection. This chapter critically reviews over 50 such tests, which use information on allele-frequency change, linkage disequilibrium patterns, spatial allele-frequency patterns, site-frequency spectrum data, allele-frequency spectrum data, and haplotype structure. This chapter discusses the domain of applicability for each test, and their strengths and weaknesses. Finally, this chapter examines application of these methods in the search for recent, or ongoing, selection in humans and for genes involved in the domestication process in plants and animals.
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Abate, Michelle Ann, i Gwen Athene Tarbox, red. Graphic Novels for Children and Young Adults. University Press of Mississippi, 2017. http://dx.doi.org/10.14325/mississippi/9781496811677.001.0001.
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One of the most significant transformations in literature for children and young adults during the last twenty years has been the resurgence of comics. Educators and librarians extol the benefits of comics reading, and increasingly, children's and young adult comics and comics hybrids have won major prizes, including the Printz Award and the National Book Award. Despite the popularity and influence of children's and young adult graphic novels, the genre has not received adequate scholarly attention. This book offers a critical examination of children's and YA comics. The anthology is divided into five sections: structure and narration; transmedia; pedagogy; gender and sexuality; and identity, that reflect crucial issues and recurring topics in comics scholarship during the twenty-first century. The chapters analyze a variety of contemporary comics, including such highly popular series as Diary of a Wimpy Kid and Lumberjanes; Eisner award-winning graphic novels by Gene Luen Yang, Nate Powell, Mariko Tamaki, and Jillian Tamaki; as well as volumes frequently challenged for use in secondary classrooms, such as Raina Telgemeier's Drama and Sherman Alexie's The Absolutely True Diary of a Part-Time Indian.
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Vaheri, Antti, James N. Mills, Christina F. Spiropoulou i Brian Hjelle. Hantaviruses. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198570028.003.0035.
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Hantaviruses (genus Hantavirus, family Bunyaviridae) are rodent- and insectivore-borne zoonotic viruses. Several hantaviruses are human pathogens, some with 10-35% mortality, and cause two diseases: hemorrhagic fever with renal syndrome (HFRS) in Eurasia, and hantavirus cardiopulmonary syndrome (HCPS) in the Americas. Hantaviruses are enveloped and have a three-segmented, single-stranded, negative-sense RNA genome. The L gene encodes an RNA-dependent RNA polymerase, the M gene encodes two glycoproteins (Gn and Gc), and the S gene encodes a nucleocapsid protein. In addition, the S genes of some hantaviruses have an NSs open reading frame that can act as an interferon antagonist. Similarities between phylogenies have suggested ancient codivergence of the viruses and their hosts to many authors, but increasing evidence for frequent, recent host switching and local adaptation has led to questioning of this model. Infected rodents establish persistent infections with little or no effect on the host. Humans are infected from aerosols of rodent excreta, direct contact of broken skin or mucous membranes with infectious virus, or rodent bite. One hantavirus, Andes virus, is unique in that it is known to be transmitted from person-to-person. HFRS and HCPS, although primarily affecting kidneys and lungs, respectively, share a number of clinical features, such as capillary leakage, TNF-, and thrombocytopenia; notably, hemorrhages and alterations in renal function also occur in HCPS and cardiac and pulmonary involvement are not rare in HFRS. Of the four structural proteins, both in humoral and cellular immunity, the nucleocapsid protein appears to be the principal immunogen. Cytotoxic T-lymphocyte responses are seen in both HFRS and HCPS and may be important for both protective immunity and pathogenesis. Diagnosis is mainly based on detection of IgM antibodies although viral RNA (vRNA) may be readily, although not invariably, detected in blood, urine and saliva. For sero/genotyping neutralization tests/RNA sequencing are required. Formalin-inactivated vaccines have been widely used in China and Korea but not outside Asia. Hantaviruses are prime examples of emerging and re-emerging infections and, given the limited number of rodents and insectivores thus far studied, it is likely that many new hantaviruses will be detected in the near future.
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Green, Barbara. Genre Criticism and the Prophets. Redaktor Carolyn J. Sharp. Oxford University Press, 2016. http://dx.doi.org/10.1093/oxfordhb/9780199859559.013.15.
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This chapter offers a current explanation of the term “genre,” to distinguish it from form, and then proposes twenty-five genres that are found typically and frequently in the Latter Prophets. For each genre, a definition is offered, and a biblical text is instanced, with the shape, function, and effect of the genre suggested. The genres include the following: allegory; argumenta minori ad maius; call/commission; day of the Lord saying; dialogue; dirge; discourse ascribed; disputation; doxology/hymn; exhortation/admonition; lament; metaphor; metonymy; parable; parodic speech; personification; prayer; pronouncement; question; root metaphor; satire/taunt; symbolic action report; theophany report; uncreation saying; and vision report.
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Reuter, Martin, i Christian Montag. The Genetic Basis of Positive Emotionality. Redaktor Turhan Canli. Oxford University Press, 2014. http://dx.doi.org/10.1093/oxfordhb/9780199753888.013.015.
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The chapter addresses the molecular genetic basis of the personality trait positive emotionality (PE). Beginning with historical aspects of heritability estimation and personality assessment, the main portion of this chapter discusses the molecular genetics basis of PE, which is investigated far less frequently than that of negative emotionality (NE). The studies reviewed focus on individual differences in PE in healthy subjects and include only those studies that assess PE by broadly accepted personality inventories. The review is concentrated on dopaminergic and serotonergic genes because these genes show the most association with PE.
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van Geel, Björn M., Marc Engelen i Stephan Kemp. X-linked Adrenoleukodystrophy. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0061.
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X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disorder. Hallmarks are increased levels of plasma very long-chain fatty acids (VLCFA), mutations in the ABCD1 gene, impaired function of ALD-protein and, consequently, decreased import of VLCFA-CoA esters in peroxisomes and VLCFA beta-oxidation. Cerebral demyelination and axonal degeneration of the spinal cord are the main causes of neurological deficits. Endocrine dysfunction, particularly adrenocortical insufficiency, is very frequent. Based upon the age of onset of symptoms and the organs most severely affected, several phenotypes can be distinguished. Adrenomyeloneuropathy (AMN) and childhood cerebral adrenoleukodystrophy (CCALD) are the most frequent variants. At least 80% of female carriers will eventually develop neurological symptoms similar to men with AMN. The thin and scanty scalp hair in affected men may facilitate diagnosis of X-ALD. Identification of patients is of utmost importance, as adrenocortical insufficiency can be treated, rapidly progressive cerebral demyelination can be halted, and prenatal diagnostic testing is available. Furthermore, symptomatic therapies and multidisciplinary support may help patients coping with this disease.
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Elliott, Perry, Kristina H. Haugaa, Pio Caso i Maja Cikes. Restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198726012.003.0044.
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Restrictive cardiomyopathy is a heart muscle disorder characterized by increased myocardial stiffness that results in an abnormally steep rise in intraventricular pressure with small increases in volume in the presence of normal or decreased diastolic left ventricular volumes and normal ventricular wall thickness. The disease may be caused by mutations in a number of genes or myocardial infiltration. Arrhythmogenic right ventricular cardiomyopathy is an inherited cardiac muscle disease associated with sudden cardiac death, ventricular arrhythmias, and cardiac failure. It is most frequently caused by mutations in desmosomal protein genes that lead to fibrofatty replacement of cardiomyocytes, right ventricular dilatation, and aneurysm formation.
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Jockers, Matthew L. Style. University of Illinois Press, 2017. http://dx.doi.org/10.5406/illinois/9780252037528.003.0006.
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This chapter shows how stylistic signals can be derived from high-frequency features and how the usage, or nonusage, of those features was susceptible to influences that are external to the so-called “authorial style,” external influences such as genre, time, and gender. These aspects of style were explored using a controlled corpus of 106 British novels where genre was a key point of analysis. The chapter first provides an overview of statistical or quantitative authorship attribution before discussing the author's project, in which he analyzed the degree to which novelistic genres express a distinguishable stylistic signal by focusing on the distribution of novels in a corpus based on their genres and decades of publication. Through a series of experiments, he demonstrates the use of the classification methodology as a way of measuring the extent to which factors beyond an individual author's personal style may play a role in determining the linguistic usage and style of the resulting text.
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Renton, Alan E., i Alison M. Goate. Genetics of Dementia. Redaktorzy Dennis S. Charney, Eric J. Nestler, Pamela Sklar i Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0051.
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The genetic architecture of dementia is polygenic and complex, with risk alleles spanning frequency–effect size space. Despite significant progress, most genes influencing these disorders await discovery. Known risk loci implicate perturbed pathways that coalesce around recurring mechanistic themes, notably the autophagosome-lysosome system, the cytoskeleton, endocytosis, innate immunity, lipid metabolism, mitochondria, and the ubiquitin-proteasome system. Phenotypic and pathophysiological pleiotropy suggests some conditions form continuous clinicopathogenetic disease spectra blurring classical diagnoses. Future large-scale genome sequencing of global populations will significantly elucidate etiopathogenesis and is likely to reframe nosology. Furthermore integrative prospective cohort studies have the potential to revolutionize our understanding of dementia.
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Barañano, Kristin W. Angelman Syndrome. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0055.
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Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the epigenetically imprinted gene UBE3A. It is characterized by severe developmental delay, an ataxic gait disorder, an apparent happy demeanor with frequent smiling or laughing, and severe expressive language impairments. Understanding the neurobiology of AS has focused on understanding how UBE3A is regulated by neuronal activity, as well as the targets of its ubiquitin E3 ligase activity. This has led to a model of the role of UBE3A in the regulation of experience-dependent sculpting of synaptic circuits. At this time, treatment is largely supportive, but efforts directed toward reversing the epigenetic silencing machinery may lead to improved synaptic function in AS patients.
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Connor, Thomas, i Patrick H. Maxwell. Von Hippel–Lindau disease. Redaktor Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0332.
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Von Hippel–Lindau (VHL) disease is a dominantly inherited familial cancer syndrome caused by germline mutations in the VHL tumour suppressor gene. The most frequent manifestations of VHL disease are retinal and central nervous system haemangioblastomas, clear cell renal cell carcinomas, and phaeochromocytomas. Genetic testing and active screening for clinical manifestations is now started in childhood and has greatly improved the prognosis for patients with VHL disease. The VHL protein plays a critical role in regulating the cellular response to changes in oxygen tension. Loss of VHL function results in constitutive activation of a range of angiogenic and metabolic pathways. New drug therapies have been developed that reverse some of the cellular consequences of VHL loss of function in kidney cancer.
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Dawson, Susan. Other bacterial diseasesStaphylococcal zoonoses. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198570028.003.0026.
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Staphylococcal species are common commensals of the skin and mucous membranes of humans and animals but only in very recent years has zoonotic infections been recognised. They can also be associated with infection and disease, especially coagulase positive organisms. Staphylococcus aureus is relatively frequently carried by humans in the nasal passages and is a cause of infections in people including bacteraemias in hospitalised patients. More recently some strains of Staphylococcus aureus have acquired a resistance gene (mecA) which renders them resistant to meticillin (meticillin-resistant Staphylococcus aureus, MRSA). MRSA isolates are of major importance in healthcare situations as well as increasingly in the community. Animals can also be carriers of Staphylococcus aureus although less frequently than humans and MRSA can be carried or infect several different host species. For companion animals such as dogs and cats, the most frequently isolated MRSA strains are similar to the common local human healthcare strains; thus for the UK, EMRSA-15 and -16. This suggests a reverse zoonosis with spill over from the human population into their companion animals. In horses the situation is different, with some horses carrying or infected with human epidemic strains but others infected with strains less frequently seen in people. For food-producing animals the picture is different again with a particular strain, ST398, which appears to circulate endemically in animal populations, such as pigs, and can spill over into the human population where it can cause carriage as well as infection and disease. The transmission appears to be by direct contact with animals rather than through the food-chain.Where risk factors for infection with MRSA have been studied in animals they appear similar to some of the risks for human infection. Therefore, for control of MRSA in animals measures such as improved hygiene and good antibacterial stewardship are important.
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Gibson, K. Michael, Cornelis Jakobs i Philip L. Pearl. Succinic Semialdehyde Dehydrogenase Deficiency. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0029.
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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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Montironi, Rodolfo, Liang Cheng, Antonio Lopez-Beltran, Roberta Mazzucchelli, Matteo Santoni i Marina Scarpelli. Prostate cancer. Redaktor James W. F. Catto. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199659579.003.0060.
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The incidence of prostate cancer (PCa) has risen dramatically in the last years. This event may be partially explained by the employment of digital rectal examination (DRE), serum prostate-specific antigen (PSA), and transrectal ultrasonography. In developed countries, PCa is the most frequent non-skin malignancy in males. It is estimated that one in six males will be diagnosed with PCa during their lifetime, the risk of death due to metastatic PCa being 1 in 30. Multiple factors contribute to the development of PCa, as well as to its progression to an androgen-independent state: dietary factors, inherited susceptibility factors, gene defects, and androgens and their receptors. The chapter will discuss the following topics: high-grade prostatic intraepithelial neoplasia (PIN); atypical small acinar proliferation; morphological criteria for the identification of PCa; reporting of PCa biopsies; prognostic factors in radical prostatectomies (RPs); and specimens.
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Sebastio, Gianfranco, Manuel Schiff i Hélène Ogier de Baulny. Lysinuric Protein Intolerance and Hartnup Disease. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0025.
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Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney. LPI is caused by mutations in the SLC7A7 gene, which encodes the y+LAT-1 protein, the catalytic light chain subunit of a complex belonging to the heterodimeric amino acid transporter family. Symptoms usually begin after weaning with refusal of feeding, vomiting, and consequent failure to thrive. Hepatosplenomegaly, hematological anomalies, and neurological involvement including hyperammonemic coma will progressively appear. Lung involvement (specifically pulmonary alveolar proteinosis), chronic renal disease that may lead to end stage renal disease, and hemophagocytic lymphohistiocytosis with macrophage activation all represent complications of LPI that may appear at any time from childhood to adulthood. The great variability of the clinical presentation frequently causes misdiagnosis or delayed diagnosis. The basic therapy of LPI consist of a low-protein diet, low-dose citrulline supplementation, nitrogen-scavenging compounds to prevent hyperammonemia, lysine, and carnitine supplements.
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Taylor, Roger E., Barry L. Pizer, Nancy Tarbell, Alba A. Brandes i Stephen Lowis. Embryonal and pineal tumours. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199651870.003.0009.
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Embryonal tumours account for 20% of paediatric central nervous system (CNS) tumours. Medulloblastoma (MB), the most frequent, arises in the cerebellum. Clinical strategies have been based on series of multi-institutional trials since the 1970s. Recent understanding of the influence of molecular/biological factors has led to subdivision into four distinct subtypes with differing clinical and prognostic profiles, on which stratification is now based. Management of MB in adults is largely based on principles of managing children, modified according to differing clinical and toxicity profiles. Molecular analysis has led to the understanding that what was previously referred to as CNS-PNET comprise a heterogeneous group of tumours with a significant proportion representing other histologies. Atypical teratoid/rhabdoid tumour (AT/RT) carries mutations in the gene hSNF5/INI1 in most cases, with many now associated with an improved prospect of long-term survival. Pineal tumours have similar clinical presentations, comprising a heterogeneous mix of histologies from pineocytoma through to pineoblastoma.
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Daudon, Michel, i Paul Jungers. Cystine stones. Redaktor Mark E. De Broe. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0203_update_001.
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Cystinuria, an autosomal recessive disease (estimated at 1:7000 births worldwide), results from the defective reabsorption of cystine and dibasic amino acids (also ornithine, arginine, lysine, COAL) by epithelial cells of renal proximal tubules, leading to an abnormally high urinary excretion of these amino acids. Due to the poor solubility of cystine at the usual urine pH, formation of cystine crystals and stones ensues. Incidence of homozygotes is estimated at 1 in 7000 births worldwide, but is lower in European countries and much higher in populations with frequent consanguinity. Cystine stones represent 1–2% of all stones in adults and 5–8% in paediatric patients, with an equal distribution between males and females.Cystinuria is caused by inactivating mutations in the gene SLC3A1 or SLC7A9, both encoding proteins contributing to the function of the heterodimeric transport system of cystine.Cystine nephrolithiasis may present in infants, most frequently in adolescents or young adults, sometimes later. Cystine calculi are weakly radio-opaque. Stone analysis using infrared spectroscopy (or X-ray diffraction) allows immediate and accurate diagnosis. Urinary amino acid chromatography quantifies urinary cystine excretion, needed to define the therapeutic strategy.Urological treatment of cystine stones currently uses extracorporeal stone wave lithotripsy or flexible ureterorenoscopy with Holmium laser, that is, minimally invasive techniques. However, as cystine stones are highly recurrent, preventive therapy is essential.Medical treatment combines reduced methionine and sodium intake, to lower cystine excretion; hyperdiuresis (> 3 L/day) to reduce cystine concentration; and active alkalinization preferably using potassium citrate (40–80 mEq/day) to increase cystine solubility by rising urine pH up to 7.5–8. If these measures are insufficient to prevent recurrent stone formation, a thiol derivative (D-penicillamine or tiopronin), which converts cystine into a more soluble disulphide, should be added. Close monitoring and adherence of the patient to the therapeutic programme are needed to ensure life-long compliance, the key for successful prevention in the long term.
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Konstan, David. Grief and the Self. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190887872.003.0005.
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Grief for the dead may seem to exhibit the most selfless kind of attachment, since the dead can no longer give us anything in return, and yet in practice one often mourns for the loss of support and protection (as evidenced frequently in ritualized lamentations), and such grief may appear to be self-centered. The conventional genre of the consolation mobilized arguments to discourage excessive or prolonged mourning, even as writers recognized that the immediate sense of loss was natural, shared even by animals. What is more, if a beloved friend is another self, then his or her death is a kind of mutilation of one’s own self, and this, as illustrated by Achilles’ mourning over the death of Patroclus, may be the deepest grief of all.
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Withers, Jeremy. Futuristic Cars and Space Bicycles. Liverpool University Press, 2020. http://dx.doi.org/10.3828/liverpool/9781789621754.001.0001.
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Futuristic Cars and Space Bicycles is the first book to examine the history of representations of the automobile and of marginalized transportation technologies such as the bicycle throughout the history of American science fiction. With chapters ranging from ones on the early science fiction of the pulp magazine era of the 1920s and 1930s, on up to chapters on the postcyberpunk of the 1990s and more recent science fiction media of the 2000s such as web television, zines, and comics, this book argues that science fiction by and large perceives the car as anything but a marvelous invention of modernity. Rather, the genre often scorns and ridicules the automobile and instead frequently promotes more sustainable, more benign, more restrained technologies of movement such as the bicycle.
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Jendza, Craig. Paracomedy. Oxford University Press, 2020. http://dx.doi.org/10.1093/oso/9780190090937.001.0001.
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Paracomedy: Appropriations of Comedy in Greek Tragedy is the first book that examines how ancient Greek tragedy engages with the genre of comedy. While scholars frequently study paratragedy (how Greek comedians satirize tragedy), this book investigates the previously overlooked practice of paracomedy: how Greek tragedians regularly appropriate elements from comedy such as costumes, scenes, language, characters, or plots. Drawing upon a wide variety of complete and fragmentary tragedies and comedies (Aeschylus, Sophocles, Euripides, Aristophanes, Rhinthon), this monograph demonstrates that paracomedy was a prominent feature of Greek tragedy. Blending a variety of interdisciplinary approaches, including traditional philology, literary criticism, genre theory, and performance studies, this book offers innovative close readings and incisive interpretations of individual plays. The author presents paracomedy as a multivalent authorial strategy: some instances impart a sense of ugliness or discomfort; others provide a sense of lightheartedness or humor. While the book traces the development of paracomedy over several hundred years, it focuses on a handful of Euripidean tragedies at the end of the fifth century BCE. The author argues that Euripides was participating in a rivalry with the comedian Aristophanes and often used paracomedy to demonstrate the poetic supremacy of tragedy; indeed, some of Euripides’s most complex uses of paracomedy attempt to reappropriate Aristophanes’s mockery of his theatrical techniques. The book theorizes a new, groundbreaking relationship between Greek tragedy and comedy that not only redefines our understanding of the genre of tragedy but also reveals a dynamic theatrical world filled with mutual cross-generic influence.
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Stainton, Hamsa. Poetry as Prayer in the Sanskrit Hymns of Kashmir. Oxford University Press, 2019. http://dx.doi.org/10.1093/oso/9780190889814.001.0001.
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This book investigates the history of a popular genre of Sanskrit devotional poetry in Kashmir: the stotra, or hymn of praise. Such hymns demonstrate and frequently reflect upon the close link between literary and religious expression in South Asia—the relationship between poetry and prayer. This study presents an overview and reassessment of the stotra genre, including its definition and history, focusing on literary hymns in Kashmir from the eighth to the twentieth century. Investigating these hymns as theological texts, it argues for their pedagogical potential and their particular appeal for non-dualistic authors. Analyzing such hymns as prayers, it unpacks the unique capabilities of the stotra form and challenges persistent assumptions in the study of Hindu prayer. The book argues for the literary ambition and creativity of many stotras across the centuries, and it complicates standard narratives about the vitality and so-called death of Sanskrit in the region. Śaiva poets also engaged with the rich discourse on aesthetics in Kashmir, and this study charts how they experiment with the idea of a devotional “taste” (bhaktirasa) long before Vaiṣṇava authors would make it well known in South Asia. Finally, it presents new perspectives on the historiography of bhakti traditions and “Kashmir Śaivism.” Overall, this book reveals the unique nature and history of stotra literature in Kashmir; demonstrates the diversity, flexibility, and persistent appeal of the stotra genre; and introduces new sources and ways of thinking about these popular texts and the comparative study of devotional poetry and prayer.
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Sheppard, Mary N. Myocardial non-compaction. Redaktorzy José Maria Pérez-Pomares, Robert G. Kelly, Maurice van den Hoff, José Luis de la Pompa, David Sedmera, Cristina Basso i Deborah Henderson. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198757269.003.0026.
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Isolated left ventricular non-compaction is a controversial entity which has only been reported in the past 30 years. It is becoming more frequently diagnosed due to the use of echocardiography and MRI. It can present in fetal life, infancy, childhood, and adult life. Clinically, the patient can present with cardiac arrhythmias, cardiac failure, systemic emboli due to thrombosis within the ventricles, and sudden death. It can be a genetic entity associated with mutations in many genes associated with hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy. It is a rare entity found at autopsy and is more common in children than adults. In the past the prognosis has been considered worse in children then in adults. Treatment is usually empirical, dealing with the cardiac failure, arrhythmias, and thromboemboli.
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Stewart, Edmund. Conclusion. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780198747260.003.0008.
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Tragedy’s dissemination may be said to be, in its nature, a complex and continuous process brought about through performance and re-performance at Panhellenic gatherings. Tragedy as a genre emerged from, and was part of, a Panhellenic song culture shaped by frequent travel, competition, and exchange. By the time something that could be termed tragedy appeared at the end of the sixth century, the Greeks were already connected by a complex system of overlapping networks. Despite the prominence of particular cities, such as Athens and Sparta, the Greeks possessed no one political or cultural centre. Festivals, at Athens and elsewhere, were important places for Greeks to gather and compete. From the beginning, individual tragic poets and actors worked hard to make their plays and performances known everywhere and known forever.
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Bosch, Annet M., i Elaine Murphy. Galactosemia. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0002.
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There are three known inherited disorders of galactose metabolism: classic galactosemia (galactose-1-phosphate uridyltransferase deficiency), galactokinase deficiency, and uridine diphosphate galactose 4-epimerase deficiency. Classic galactosemia presents in the newborn period with liver and renal impairment and failure to thrive. Acute symptoms resolve when lactose is excluded from the diet, but long-term complications are frequent and include neurocognitive and social difficulties, speech and language problems, motor problems, and premature ovarian insufficiency. Patients with galactokinase deficiency develop cataracts, while the clinical spectrum of uridine diphosphate galactose 4-epimerase deficiency is broad, from a benign condition to a severe disorder similar to classic galactosemia. All are autosomal recessive conditions. Diagnosis is by measurement of enzyme activity in erythrocytes, confirmed by mutation analysis of the specific genes, GALT, GALK, or GALE.