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1
Popkin, Ronna. Variants of Significance? The Production and Management of Genetic Risk for Breast and Ovarian Cancer in the Era of Multi-Gene Panel Testing. [New York, N.Y.?]: [publisher not identified], 2019.
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2
Lajeri, Fatma. Risk aversion and prudence: The case of mean-variance preferences. Fontainebleau: INSEAD, 1993.
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3
Martin, Jolie Mae. Variance-seeking for positive (and variance-aversion for negative) experiences: Risk-seeking in the domain of gains? Boston]: Harvard Business School, 2008.
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4
Copeland, Laurence S. Inflation, interest rate risk and the variance of common stock prices. Manchester: Manchester Business School, 1986.
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5
O'Gorman, Aongus J. Mean-risk analysis: An examination of semivariance as an alternative to the traditional risk measure of variance. Dublin: University College Dublin, 1994.
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6
Johnson, D. G. The robustness of mean and variance approximations in pert and risk analysis. Loughborough, Leics: Loughborough University Business School, 1997.
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7
Geyer, Alois. Information, Erwartung und Risiko: Aspekte der Verteilung, Abhängigkeit und Varianz von finanzwirtschaftlichen Zeitreihen. München: VVF, 1992.
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8
Holdt, Lesca M., e Daniel Teupser. Genetic background of atherosclerosis and its risk factors. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199656653.003.0002.
Testo completoAbstract (sommario):
This chapter is concerned with how atherosclerosis risk is modulated by a complex interplay between genetic and environmental risk factors. The contribution of genetics to the variability of atherosclerosis risk is estimated as 50%. Recent genome-wide association studies have led to the identification of over 50 gene variants which modulate atherogenesis. Risk factors for atherosclerosis are also partly genetically determined and some of the variants which play a role in atherogenesis overlap with those modulating its risk factors. However, the current relevance of these findings for clinical practice is limited, mainly due to the small effect sizes of identified risk variants with insufficient discriminatory power, and a large portion of the genetic contribution to atherosclerosis is still unknown. The major promise therefore lies in understanding the pathophysiology of newly identified genes with the perspective of novel therapeutic approaches.
9
Penney, Kathryn L., Kyriaki Michailidou, Deanna Alexis Carere, Chenan Zhang, Brandon Pierce, Sara Lindström e Peter Kraft. Genetic Epidemiology of Cancer. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0005.
Testo completoAbstract (sommario):
Chapter 5 reviews epidemiologic studies conducted to identify germline (inherited) susceptibility loci. These studies can involve associations observed within high-risk family pedigrees or in large studies of unrelated individuals. The chapter reviews the methods used to estimate the aggregate contribution of inherited genetic susceptibility and to identify specific genetic loci associated with risk. Although there is considerable variability across cancers, most cancers exhibit familial clustering, driven in part by a small number of known rare variants with large relative risks and a larger number of common variants with modest relative risks. The chapter discusses the implications of these findings for clinical care, public health, and tumor biology. It closes with a discussion of open questions, most notably the puzzle of “missing heritability”: the fact that—despite tremendous advances—multiple lines of evidence suggest that most specific risk variants, both rare and common, have yet to be discovered.
10
Merriman, Tony R. The genetic basis of gout. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199668847.003.0040.
Testo completoAbstract (sommario):
An individual’s risk of gout is determined by a complex relationship between inherited genetic variants and environmental exposures. Genetic variants that control hyperuricaemia and subsequent progression to clinical gout specify pathogenic pathways that could be therapeutically targeted. Genome-wide association studies (GWAS) have provided novel insights into the pathways leading to hyperuricaemia. GWAS have identified the renal uric acid transporter SLC2A9/GLUT9 and the gut excretory molecule ABCG2, which each have very strong genetic effects in the control of urate levels and risk of gout. Histone deacetylase inhibitors are able to correct the genetically-determined ABCG2 dysfunction. Other renal uric acid transporters, such as SLC22A11/OAT4 and SLC22A12/URAT1 have been confirmed to be genetically associated with urate and the risk of gout. Genes that generate urate during glycolysis (e.g. GCKR) are also implicated. In contrast very little is known about genetic variants that control the progression from hyperuricaemia to gout with the toll-like receptor 4 gene being the only gene with replicated evidence of association.
11
Syrris, Petros, e Alexandros Protonotarios. Arrhythmogenic right ventricular cardiomyopathy: genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0359.
Testo completoAbstract (sommario):
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disorder of the heart muscle which is typically inherited in an autosomal dominant manner. It is believed to be familial in over 50% of cases. A recessive mode of inheritance has also been reported in syndromic cases with cardiocutaneous features. The classic form of the disorder is considered to be ‘a disease of the desmosome’ as pathogenic variants have been identified in five genes encoding key desmosomal proteins: plakoglobin, desmoplakin, plakophilin-2, desmoglein-2, and desmocollin-2. Mutations in these genes account for 30–50% of ARVC cases. A further eight non-desmosomal genes have also been implicated in the pathogenesis of the disorder but only account for rare cases. Studies of patients with ARVC-associated gene mutations have revealed marked genetic heterogeneity and very limited genotype–phenotype correlation. Disease expression often varies significantly amongst individuals carrying the same mutation. It has been proposed that the presence of more than one sequence variant is required to determine overt clinical disease and patients with multiple variants have a more severe phenotype compared to single variant carriers. Identification of a potentially pathogenic variant comprises a major criterion in the diagnosis of ARVC but informative integration of genetic testing into clinical practice remains challenging. Gene testing should be used to identify asymptomatic family members at risk and only aids diagnosis in cases of high suspicion for ARVC, along with other evident features of the disease already present. However, genetic findings should be used with caution in clinical practice and their interpretation must be performed in expert centres.
12
Charney, Alexander, e Pamela Sklar. Genetics of Schizophrenia and Bipolar Disorder. A cura di Dennis S. Charney, Eric J. Nestler, Pamela Sklar e Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0013.
Testo completoAbstract (sommario):
Schizophrenia and bipolar disorder are the classic psychotic disorders. Both diseases are strongly familial, but have proven recalcitrant to genetic methodologies for identifying the etiology until recently. There is now convincing genetic evidence that indicates a contribution of many DNA changes to the risk of becoming ill. For schizophrenia, there are large contributions of rare copy number variants and common single nucleotide variants, with an overall highly polygenic genetic architecture. For bipolar disorder, the role of copy number variation appears to be much less pronounced. Specific common single nucleotide polymorphisms are associated, and there is evidence for polygenicity. Several surprises have emerged from the genetic data that indicate there is significantly more molecular overlap in copy number variants between autism and schizophrenia, and in common variants between schizophrenia and bipolar disorder.
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Guffanti, Guia, Milissa L. Kaufman, Lauren A. M. Lebois e Kerry J. Ressler. Genetic Approaches to Post-Traumatic Stress Disorder. A cura di Charles B. Nemeroff e Charles R. Marmar. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190259440.003.0026.
Testo completoAbstract (sommario):
Post-traumatic stress disorder (PTSD) is a debilitating psychiatric disorder with an estimated genetic component accounting for 30%–40% of the variance contributing to risk for the disease. This chapter starts with a review of the biological hypotheses and related genetic mechanisms currently proposed to be associated with PTSD and trauma-related disorders. It will follow with a description of the state-of-the-art on the methodologies and their application to map genetic loci and identify biomarkers associated with PTSD. Finally, we will review the latest results from genome-wide association studies of genetic variants as well as those derived from the emerging fields of epigenetics and gene expression.
14
Gelernter, Joel. Complex Trait Genetics and Population Genetics in Psychiatry. A cura di Turhan Canli. Oxford University Press, 2014. http://dx.doi.org/10.1093/oxfordhb/9780199753888.013.016.
Testo completoAbstract (sommario):
Nearly all behavioral traits, ranging from personality traits such as neuroticism to schizophrenia and autism, are genetically influenced. With only minor exceptions, all are genetically complex—meaning that inheritance is not simply dominant or recessive or sex-linked, but follows more complex patterns indicative of more complex mechanisms. Most risk variants identified to date have only small effects on risk, and, in most cases, many risk variants at many risk loci interact with environmental factors to produce the phenotype. Such complexity has led to great challenges in increasing our knowledge of the inheritance of behavioral traits. Recent methodological advances have provided an improved set of tools that has led to advances in our understanding of the genetic influences on a range of behavioral traits. This chapter examines some of the issues involved that tend to make this a difficult problem and some of the solutions now being employed to approach those problems.
15
Johnson, Ryan. Over the Trenches (Risk WWI Variant). Guild of Blades Publishing Group, 1999.
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16
Bentham, James R. The genetics of congenital heart disease. A cura di José Maria Pérez-Pomares, Robert G. Kelly, Maurice van den Hoff, José Luis de la Pompa, David Sedmera, Cristina Basso e Deborah Henderson. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198757269.003.0022.
Testo completoAbstract (sommario):
Congenital heart disease (CHD) is defined as a structural cardiac malformation resulting from an abnormality of development; 8% of CHD is inherited in a Mendelian fashion and 12% results from chromosomal imbalance. Recurrence risk and new research suggest that even the remaining 80% of patients without an identifiable familial or syndromic basis for disease may have an identifiable genetic cause. The potential to understand these mechanisms is increasing with the advent of new sequencing techniques which have identified multiple or single rare variants and/or copy number variants clustering in cardiac developmental genes as well as common variants that may also contribute to disease, for example by altering metabolic pathways. Work in model organisms such as mouse and zebrafish has been pivotal in identifying CHD candidate genes. Future challenges involve translating the discoveries made in mouse models to human CHD genetics and manipulating potentially protective pathways to prevent disease.
17
Langley, Kate. ADHD genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198739258.003.0003.
Testo completoAbstract (sommario):
This chapter reviews the evidence suggesting that there is a strong genetic component to ADHD and the efforts to identify the specific genetic factors that might be involved. It discusses the different types of genetic contributions, from common to rare variants, and the evidence that these are involved in the aetiology of the disorder. An overview of the methodological strategies employed, including genome-wide association studies (GWAS), polygenic risk score, and copy number variant (CNV) analyses, is undertaken, as well as discussion of the strengths and pitfalls of such work. The contradictory findings in the field and controversies that arise as a result are also explored. Finally, this chapter considers how the heritability of ADHD and specific genetic factors involved need to be examined in the context of clinical factors such as comorbidity and how these factors affect investigations into the genetics of ADHD.
18
Pezzini, Alessandro. Genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198722366.003.0011.
Testo completoAbstract (sommario):
Ischaemic stroke is a heterogeneous multifactorial disorder. Although epidemiological data from twin and family studies provide substantial evidence for a genetic basis for stroke, the contribution of genetic factors identified so far is small. Large progress has been made in single-gene disorders associated with ischaemic stroke, particularly at young age. By contrast, little is known about the genes associated with multifactorial stroke. The reported genome-wide association studies of ischaemic stroke have shown that no single common genetic variant imparts major risk, but data on early-onset disease are scarce in this regard. Larger studies with samples numbering in the thousands are ongoing to identify common variants with smaller effects on risk. This approach, in addition with new analytic techniques, will likely contribute to the identification of additional genes, novel pathways, and eventually novel therapeutic approaches to cerebrovascular disorders in the near future. The aims of this review are to summarize data on clinical, genetic, and epidemiologic aspects of monogenic conditions associated with juvenile ischaemic stroke, to discuss recent findings and methodological limitations regarding the genetics of sporadic ischaemic stroke in this age category, and to provide a brief overview of the potential future approaches to stroke genetics.
19
de Geus, Eco, Rene van Lien, Melanie Neijts e Gonneke Willemsen. Genetics of Autonomic Nervous System Activity. A cura di Turhan Canli. Oxford University Press, 2013. http://dx.doi.org/10.1093/oxfordhb/9780199753888.013.010.
Testo completoAbstract (sommario):
Large individual differences in the activity of the autonomic nervous system (ANS) play a key role in risk for cardiovascular disease. This chapter presents an overview of the measurement strategies that can be used to study ANS activity in samples that are sufficiently large to allow genetic analyses. Heart rate variability, in particular, respiratory sinus arrhythmia (RSA) is identified as the measure of choice to index parasympathetic activity, whereas preejection period (PEP) is the measure of choice to index sympathetic activity. Twin studies have demonstrated significant genetic contributions to resting levels of both RSA (heritability estimates range from 25 to 71 percent) and PEP (heritability estimates range from 48 to 74 percent) and the genetic variance in these traits seems to further increase under conditions of psychological stress. Identifying the genetic variants that influence parasympathetic and sympathetic activity may increase our understanding of the role of the ANS in cardiovascular disease.
20
Dalbeth, Nicola. Clinical features of gout. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198748311.003.0005.
Testo completoAbstract (sommario):
About 60% of the variance in serum urate levels can be explained by inherited genetic factors, but the extent of the contribution of genetic factors to gout in the presence of hyperuricaemia is not known. Genome-wide association studies in Europeans have identified 28 loci controlling serum urate levels, although the molecular basis of the majority of these genetic associations is currently unknown. The SLC2A9 and ABCG2 renal and gut uric acid transporters have very strong effects on urate levels and the risk of gout. Other uric acid transporters (e.g. SLC22A11/OAT478, SLC22A12/URAT1) and a glycolysis gene (GCKR) are associated with urate levels. Environmental exposures such as sugar-sweetened beverages and alcohol interact with urate-associated genetic variants in an unpredictable fashion. Very little is known about the genetic control of gout in the presence of hyperuricaemia, formation of monosodium urate crystals, and the immune response.
21
Westberg, Lars, e Hasse Walum. Oxytocin and Vasopressin Gene Variation and the Neural Basis of Social Behaviors. A cura di Turhan Canli. Oxford University Press, 2013. http://dx.doi.org/10.1093/oxfordhb/9780199753888.013.011.
Testo completoAbstract (sommario):
Experimental studies in rodents and humans show that the neuropeptides oxytocin and vasopressin are important regulators of behaviors related to social interactions. Evidence for positive effects of oxytocin treatment on symptoms of psychiatric disorders characterized by impaired social functioning has emerged. Numerous studies report associations between various social behaviors, the risk of autism, and polymorphisms inOXTRandAVPR1A. This chapter provides an overview of these genetic association studies. Although many of the published findings are inconclusive and need replication in independent samples, the chapter concludes that variants ofOXTRandAVPR1Aseem to moderate individual variation in different aspects of social behavior. The challenges for future studies include replication of current findings, identification of the functional variants, and characterization of the neural mechanisms mediating the gene-behavior associations, as well as exploration of the pharmacogenetic potential ofOXTRandAVPR1Ain future clinical trials.
22
Chess, Andrew, e Schahram Akbarian. The Human Brain and its Epigenomes. A cura di Dennis S. Charney, Eric J. Nestler, Pamela Sklar e Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0003.
Testo completoAbstract (sommario):
Conventional psychopharmacology elicits an insufficient therapeutic response in more than one half of patients diagnosed with schizophrenia, bipolar disorder, depression, anxiety, or related disorders. This underscores the need to further explore the neurobiology and molecular pathology of mental disorders in order to develop novel treatment strategies of higher efficacy. One promising avenue of research is epigenetics.Deeper understanding of genome organization and function in normal and diseased human brain will require comprehensive charting of neuronal and glial epigenomes. This includes DNA cytosine and adenine methylation, hundred(s) of residue-specific post-translational histone modifications and histone variants, transcription factor occupancies, and chromosomal conformations and loopings. Epigenome mappings provide an important avenue to assign function to many risk-associated DNA variants and mutations that do not affect protein-coding sequences. Powerful novel single cell technologies offer the opportunity to understand genome function in context of the vastly complex cellular heterogeneity and neuroanatomical diversity of the human brain.
23
Chang, Ellen T., e Hans-Olov Adami. Nasopharyngeal Cancer. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190676827.003.0008.
Testo completoAbstract (sommario):
The distinctive global incidence patterns and risk factors for nasopharyngeal carcinoma (NPC) make this a unique malignancy that represents an epidemiologic challenge. NPC is rare throughout most of the world but relatively common in southern China, Southeast Asia, the Arctic, North Africa, and the Middle East. This pattern is determined in part by the geographic and ethnic distribution of established risk factors for NPC, which include early/aberrant Epstein Barr virus infection, Chinese-style salted fish consumption, family history, certain human leukocyte antigen alleles, and tobacco smoking. Other possible NPC risk factors include certain dietary, occupational, and infectious exposures and genetic variants. Risk factors for NPC in low-incidence regions, where tumors are more often of squamous cell histology than in high-incidence regions, are poorly understood, as are etiologic interactions among genetic, environmental, and infectious risk factors for NPC.
24
Brennand, Kristen. Application of Stem Cells to Understanding Psychiatric Disorders. A cura di Dennis S. Charney, Eric J. Nestler, Pamela Sklar e Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0005.
Testo completoAbstract (sommario):
While much has been learned through clinical post-mortem and neuroimaging studies of patients and animal models of autism spectrum disorder (ASD), bipolar disorder (BD) and schizophrenia (SZ), these classical approaches have yet to fully elucidate the interaction of complex genetic risk factors on disease predisposition. The derivation of human induced pluripotent stem cells (hiPSCs) from patients with psychiatric disorders permits the study of the full complement of risk variants (known and unknown) that underlie disease predisposition, precisely in the cell types relevant to disease. The following chapter covers work to date regarding the advancements in the use of hiPSCs to model psychiatric disorders.
25
Smedby, Karin Ekström, Mads Melbye e Hans-Olov Adami. Non-Hodgkin Lymphoma. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190676827.003.0027.
Testo completoAbstract (sommario):
Non-Hodgkin lymphomas (NHL) are a heterogeneous group of malignancies originating from B- or T-lymphocytes and engaging lymphoid tissue. Clinically, NHL subtypes range from chronic indolent to aggressive life-threatening diseases. The incidence of NHL overall increased dramatically worldwide during the latter half of the twentieth century but has now leveled off in many countries. Although some etiologic factors have been identified, most newly diagnosed cases of NHL as well as the previous rise in incidence remain largely unexplained. Well-established risk factors include severe immune suppression following HIV/AIDS and organ transplantation, autoimmune and inflammatory disorders, some infectious agents, and family history. More recently, lifestyle factors have also been linked with certain subtypes of NHL. Through the work of the international InterLymph consortium, several subtype-specific genetic susceptibility variants have also been revealed, promising to shed further light on mechanisms of lymphomagenesis.
26
Zhang, Xuehong, Eunyoung Cho e Hans-Olov Adami. Kidney Cancer. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190676827.003.0023.
Testo completoAbstract (sommario):
The etiology of kidney cancer remains largely unknown. Cigarette smoking, obesity, and hypertension are well-established risk factors for kidney cancer. Although the current evidence is relatively mixed, other emerging risk factors include use of nonsteroidal anti-inflammatory drugs (NSAIDs), occupational exposure to trichloroethylene, and high parity in women. In contrast, physical activity and alcohol consumption have been consistently inversely associated with risk of kidney cancer. There is no convincing evidence of a causal link with any other specific food items or nutrients. Most kidney cancers are sporadic, and current studies of common genetic variants report mixed results, but genetic variations may also contribute to the etiology of kidney cancer. Further research is warranted to identify new environmental causes, to better understand the genetic and molecular processes, and to account for different molecular subtypes with specific genetic or tumor characteristics.
27
Goldman, David, Zhifeng Zhou e Colin Hodgkinson. The Genetic Basis of Addictive Disorders. A cura di Dennis S. Charney, Eric J. Nestler, Pamela Sklar e Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0042.
Testo completoAbstract (sommario):
Addictive disorders are moderately to highly heritable, indicating that alleles transmitted from parents are protective, or enhance risk by whatever mechanisms. However, the inheritance of addictive disorders is complex, involving hundreds of genes and variants that are both common and rare, and that vary in effect size and context of action. Genes altering risk for addictions have been identified by pathway and candidate gene studies in humans and model organisms, and genomic approaches including genome-wide association, meiotic linkage, and sequencing. Genes responsible for shared liability to different addictive disorders have been identified, as well as genes that are relatively specific in altering risk of addiction to one agent. An impediment to overarching conclusions is that most of the heritability of addictions is unexplained at the level of gene or functional locus. However, new analytic approaches and tools have created new potentials for resolution of the “missing heritability.”
28
Turney, Ben, e John Reynard. Kidney stones. A cura di John Reynard. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199659579.003.0013.
Testo completoAbstract (sommario):
The composition of kidney stones is variable and the predisposing factors multifactorial. Consequently, a detailed evaluation of the patient’s lifestyle, diet, fluid intake, medical history, drug history, urinary tract anatomy, blood, and urine biochemistry and stone composition is required determine predisposing factors for stone formation in an individual patient. Combinatorial subtle variants in biochemistry may act synergistically to increase risk of stone formation/recurrence. Many medications may alter blood and/or urine biochemistry and predispose to stone formation. Corticosteroids increase absorption of calcium from the gut and cause hypercalciuria. Topirimate (for seizures or migraines), sulphasalazine (for rheumatoid arthritis), diuretics containing triamterene, acetazolamide (for myotonia), antacids containing trisilicate, calcium supplements, vitamin D supplements, vitamin C in high doses, indinavir (for HIV), and some herbal medicines (containing ephedrine) all increase stone risk.
29
Back, Kerry E. Portfolio Choice. Oxford University Press, 2017. http://dx.doi.org/10.1093/acprof:oso/9780190241148.003.0002.
Testo completoAbstract (sommario):
The portfolio choice model is introduced, and the first‐order condition is derived. Properties of the demand for a single risky asset are derived from second‐order risk aversion and decreasing absolute risk aversion. Optimal investments are independent of initial wealth for investors with constant absolute risk aversion. Optimal investments are affine functions of initial wealth for investors iwth linear risk tolerance. The optimal portfolio for an investor with constant absolute risk aversion is derived when asset returns are normally distributed. Investors with quadratic utility have mean‐variance preferences, and investors have mean‐variance preferences when returns are elliptically distributed.
30
Tangen, Catherine M., Marian L. Neuhouser e Janet L. Stanford. Prostate Cancer. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0053.
Testo completoAbstract (sommario):
Prostate cancer is the most common solid tumor and the second leading cause of cancer-related mortality in American men. Worldwide, prostate cancer ranks second and fifth as a cause of cancer and cancer deaths, respectively. Despite the international burden of disease due to prostate cancer, its etiology is unclear in most cases. Established risk factors include age, race/ancestry, and family history of the disease. Prostate cancer has a strong heritable component, and genome-wide association studies have identified over 110 common risk-associated genetic variants. Family-based sequencing studies have also found rare mutations (e.g., HOXB13) that contribute to prostate cancer susceptibility. Numerous environmental and lifestyle factors (e.g., obesity, diet) have been examined in relation to prostate cancer incidence, but few modifiable exposures have been consistently associated with risk. Some of the variability in results may be related to etiological heterogeneity, with different causes underlying the development of distinct disease subgroups.
31
Hjalgrim, Henrik, Mads Melbye e Pagona Lagiou. Hodgkin Lymphoma. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190676827.003.0026.
Testo completoAbstract (sommario):
The descriptive epidemiology of Hodgkin lymphoma (HL) has demonstrated marked variation by age, sex, social class, and time, strongly suggesting both a role of environmental factors and the existence of etiologically diverse HL subtypes. There is increasing evidence that Epstein Barr virus (EBV)–positive and EBV-negative classical HLs define two variants with separate etiologies. The risk for both increases with family history, whereas immune dysfunction and infectious mononucleosis have been implicated in EBV-positive HL risk only. Despite being the less common of the two, the natural history of EBV-positive HL is currently the best understood, both with respect to how EBV may contribute to malignant cell transformation and in relation to constitutional and environmental risk factors. Meanwhile, the understanding of the natural history of EBV-negative HL is meager. Future research for EBV-negative HL is expected to focus on its presumed infectious etiology, for which there are currently no strong candidates.
32
Faraone, Stephen V., Pradeep G. Bhide e Joseph Biederman. Neurobiology of Attention Deficit Hyperactivity Disorder. A cura di Dennis S. Charney, Eric J. Nestler, Pamela Sklar e Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0064.
Testo completoAbstract (sommario):
Attention deficit hyperactivity disorder (ADHD) is a prevalent, early-onset and persistent disorder of inattention, hyperactivity, and impulsivity. The mechanisms of action of ADHD medications, neuroimaging studies, and studies of monoamine systems and animal models suggest that dysregulation of catecholaminergic neurotransmission in cerebellar-corticostriatal circuits plays a key role in the pathophysiology of ADHD. The efficacy of ADHD medications likely arises from their differing profile of effects on (a) dopaminergic and noradrenergic systems and (b) the localization of these effects in prefrontal cortex and striatum. ADHD has a very high heritability, and although molecular genetic studies have found no causal common DNA variants yet, they have found strong evidence that rare duplications and deletions are risk factors for ADHD. Environmental risk factors, especially those that impact early neurodevelopment (i.e., exposure to cigarette smoking and alcohol during pregnancy), also influence susceptibility to ADHD.
33
Back, Kerry E. Mean-Variance Analysis. Oxford University Press, 2017. http://dx.doi.org/10.1093/acprof:oso/9780190241148.003.0005.
Testo completoAbstract (sommario):
The mean‐variance frontier is characterized with and without a risk‐free asset. The global minimum variance portfolio and tangency portfolio are defined, and two‐fund spanning is explained. The frontier is characterized in terms of the return defined from the SDF that is in the span of the assets. This is related to the Hansen‐Jagannathan bound. There is an SDF that is an affine function of a return if and only if the return is on the mean‐variance frontier. Separating distributions are defined and shown to imply two‐fund separation and mean‐variance efficiency of the market portfolio.
34
Barkley, Thomas. Energy Risk Management. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190656010.003.0024.
Testo completoAbstract (sommario):
The backdrop of rapid growth of worldwide energy consumption and increasing concerns about global energy sustainability and environment protection, as well as an increasing uncertainty of commodity prices, require energy companies to use derivatives to hedge against risks related to energy trading. Over time, this situation has led to a more important role for energy risk management as part of a company’s core business operation. This chapter discusses the primary financial instruments used in the energy sector and risk management for energy companies. It reviews the application of several important quantitative methodologies, including Value at Risk and its variant risk metrics, to measure market risk. The chapter also examines credit risk measures and credit risk migration. Lastly, it discusses liquidity risk, operational risk, and legal risk. Overall, the chapter focuses more on the risk the commodity producer/deliverer faces and less on the end user.
35
Eyre, Steve, e Jane Worthington. Genetics of rheumatoid arthritis. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0040.
Testo completoAbstract (sommario):
A range of epidemiological studies have clearly established that susceptibility to rheumatoid arthritis (RA) is determined by both genetic and environmental factors. Studies over the last five decades have used a variety of approaches to identify the genetic variants associated with disease. HLA DRB1 was the first RA susceptibility locus to be discovered and has the largest effect size. We describe current understanding of the complexities of HLA association for RA. Linkage and small-scale association studies prior to 2007 provided convincing evidence for only one more RA susceptibility locus, PTPN22. Major breakthroughs in high-throughput genotyping and systematic discovery and mapping of hundreds of thousands of single nucleotide polymorphisms (SNPs) led to large-scale genome-wide association studies used for the first time for RA in 2007. This approach has had a dramatic impact on our knowledge of the susceptibility loci for RA, such that over 60 risk variants have now been robustly identified. We present an overview of these studies and the loci that have been identified. We consider how this knowledge is contributing to a greater understanding of the aetiology and pathology of the disease and in turn how this can influence management of patients presenting with an inflammatory arthritis. We consider some of the unanswered questions and the approaches that will need to be taken to address them.
36
Eyre, Steve, Jane Worthington e Sebastien Viatte. Genetics of rheumatoid arthritis. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199642489.003.0040_update_003.
Testo completoAbstract (sommario):
A range of epidemiological studies have clearly established that susceptibility to rheumatoid arthritis (RA) is determined by both genetic and environmental factors. Studies over the last five decades have used a variety of approaches to identify the genetic variants associated with disease. HLA DRB1 was the first RA susceptibility locus to be discovered and has the largest effect size. We describe current understanding of the complexities of HLA association for RA. Linkage and small-scale association studies prior to 2007 provided convincing evidence for only one more RA susceptibility locus, PTPN22. Major breakthroughs in high-throughput genotyping, and systematic discovery and mapping of hundreds of thousands of single nucleotide polymorphisms (SNPs) led to large-scale genome-wide association studies used for the first time for RA in 2007. Widespread utilization of this approach has had a dramatic impact on our knowledge of the susceptibility loci for RA, such that over 100 risk variants have now been robustly identified. We present an overview of these studies and the loci that have been identified. We consider how this knowledge is contributing to a greater understanding of the aetiology and pathology of the disease, and in turn how this can influence management of patients presenting with an inflammatory arthritis. We consider some of the unanswered questions and the approaches that will need to be taken to address them.
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Haiman, Christopher, e David J. Hunter. Genetic Epidemiology of Cancer. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190676827.003.0004.
Testo completoAbstract (sommario):
This chapter explores the genetic epidemiology of cancer: the identification and quantification of inherited genetic factors, and their potential interaction with the environment, in the etiology of cancer in human populations. It also describes the techniques used to identify genetic variants that contribute to cancer susceptibility. It describes the older research methods for identifying the chromosomal localization of high-risk predisposing genes, such as linkage analysis within pedigrees and allele-sharing methods, as it is important to understand the foundations of the field. It also reviews the epidemiologic study designs that can be helpful in identifying low-risk alleles in candidate gene and genome-wide association studies, as well as gene–environment interactions. Finally, it describes some of the genotyping and sequencing platforms commonly employed for high-throughput genome analysis, and the concept of Mendelian randomization and how it may be useful in the study of biomarkers and environmental causes of cancer.
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Naicker, Saraladevi, e Graham Paget. HIV and renal disease. A cura di Vivekanand Jha. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0187_update_001.
Testo completoAbstract (sommario):
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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Ingles, Jodie, Charlotte Burns e Laura Yeates. Genetic counselling. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0145.
Testo completoAbstract (sommario):
Cardiac genetic counselling is an emerging but important subspecialty. The qualifications of cardiac genetic counsellors depend on the country of practice, but at a minimum they are Master’s-level trained health professionals with expertise in genetics, and are integral members of the multidisciplinary inherited cardiovascular disease clinic. Though the framework is diverse in different countries, key roles include investigation and confirmation of family history details, discussion of inheritance risks and facilitation of cardiac genetic testing, communication with at-risk relatives, and increasingly, curation of genetic test results. The use of next-generation sequencing technologies has seen a recent shift in the uptake of genetic testing, due to greater availability and lowered costs. As these gene tests become more comprehensive, including large panels of genes and even whole exome or whole genome sequencing, the need for cardiac genetic counsellors to provide informed consent, appropriate pre- and post-test genetic counselling, and ongoing curation of the variants identified is evident. Finally, given the improved understanding of the psychological implications of living with a cardiovascular genetic disease, cardiac genetic counsellors are integral in delivering psychosocial care and identifying patients requiring intervention with a clinical psychologist.
40
Johnson, Ryan S. Rise of the Red Army (Russian Revolution A&A Variant). Guild of Blades Publishing Group, 2002.
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41
Barr, Christina S. Gene-by-Environment Interactions in Primates. A cura di Turhan Canli. Oxford University Press, 2014. http://dx.doi.org/10.1093/oxfordhb/9780199753888.013.006.
Testo completoAbstract (sommario):
Because of their complex social structures, behaviors, and genetic similarities to humans, nonhuman primates are useful for studying how genetic factors influence alcohol consumption. The neurobiological systems that influence addiction vulnerability may do so by acting on alcohol response, reward pathways, behavioral dyscontrol, and vulnerability to stress and anxiety. Rhesus macaques show individual differences in alcohol response and temperament, and such differences are influenced by genetic variants that are similar functionally to those present in humans. Genes in which variation moderates these phenotypes provide opportunities for modeling how genetic and environmental factors (i.e., stress exposure, individual’s sex, or alcohol response) interact to influence alcohol consumption. Studies in primates may also reveal selective factors that have driven maintenance or fixation of alleles that increase risk for alcohol use disorders in modern humans.
42
Johnson, D. The robustness of mean and variance approximations in pert and risk analysis. Loughborough University Business School, 1997.
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43
Rucker, James J. H., e Peter McGuffin. Copy Number Variation in Neuropsychiatric Disorders. A cura di Turhan Canli. Oxford University Press, 2013. http://dx.doi.org/10.1093/oxfordhb/9780199753888.013.005.
Testo completoAbstract (sommario):
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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Sprigings, David. Delirium (acute confusional state). A cura di Patrick Davey e David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0041.
Testo completoAbstract (sommario):
Delirium is a functional brain disorder characterized by disturbances of consciousness, attention, and cognition. The term ‘acute confusional state’ is often used synonymously with ‘delirium’. Delirium may be associated with a range of associated clinical features including increased or decreased psychomotor activity (hyperactive and hypoactive variants), hallucinations and delusions, and efferent sympathetic hyperactivity. Delirium with pronounced psychomotor and sympathetic hyperactivity is more often seen in younger patients with alcohol or substance intoxication/withdrawal (delirium tremens), but no cause is specific to a clinical subtype. Delirium is distinguished from dementia (with which it may coexist, as dementia is a major risk factor for delirium) by its speed of onset (over hours or days) and reversibility with correction of the underlying cause. In some patients, however, delirium may be followed by long-term cognitive impairment, suggesting that the pathophysiology of delirium overlaps with that of dementia.
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Menon, Ashok, Haris A. Khwaja, Ariel Ortiz Lagardere, Manoel Galvao Neto e Jaime Ponce. Complications of the Intragastric Balloon. A cura di Tomasz Rogula, Philip Schauer e Tammy Fouse. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190608347.003.0038.
Testo completoAbstract (sommario):
Intragastric balloons (IGB) have been used in the treatment of obesity for over 30 years. The first notable IGB device (the Garren Edwards Gastric Bubble) was withdrawn from the market due to patients’ poor weight loss and a high rate of complications. Several subsequent devices have been designed to address these shortcomings, but high-quality data are needed to compare complication rates among devices. Mortality across all IGB variants is extremely low compared to other bariatric procedures. Complications are mainly associated with visceral injury related to device insertion and retrieval, and with the presence or migration of an in-situ device, such as gastric ulceration and perforation, intolerance, gastrointestinal obstruction, and, rarely, acute pancreatitis. The incidence of postoperative venous thromboembolism (VTE) has not been extensively investigated, and it is not clear whether VTE is device-related or is due to increased VTE risk in bariatric patients.
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Cerhan, James R., Claire M. Vajdic e John J. Spinelli. The Non-Hodgkin Lymphomas. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0040.
Testo completoAbstract (sommario):
The non-Hodgkin lymphomas (NHL) are a heterogeneous group of over forty lymphoid neoplasms that have undergone a major redefinition over the last twenty-five years, in part due to advances in immunology and genetics as well as implementation of the WHO classification system. NHLs are considered clonal tumors of B-cells, T-cells, or natural killer (NK) cells arrested at various stages of differentiation, regardless of whether they present in the blood (lymphoid leukemia) or lymphoid tissues (lymphoma). In the United States, the age-standardized NHL incidence rate (per 100,000) doubled from 1973 (10.2) to 2004 (21.4) and then stabilized, while five-year relative survival rates improved from 42% in 1973 to 70% in 2004. Established risk factors for NHL or specific NHL subtypes include infectious agents (HTLV-1, HIV, EBV, HHV8, HCV, H. pylori), immune dysregulation (primary immunodeficiency, transplantation, autoimmunity, and immunosuppressive drugs), family history of lymphoma, and common genetic variants identified by genome-wide association studies.
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Gotman, Kélina. ‘Sicily Implies Asia and Africa’. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190840419.003.0008.
Testo completoAbstract (sommario):
The passage or translatio between bodies of knowledge and geographic terrains prompted the transformation of the choreomania concept from mildly quaint to dangerously exotic, in a context of rising anti-colonial revolt. This chapter introduces part II of the book, which emphasizes the transformation of ‘choreomania’ on colonial shores. Considering the rise in comparative literature and medical geography, as well as performative reconstructions of ancient Greek attitudes, this chapter shows how travellers, translators, and anthropologists contributed to expanding the archival repertoire of choreomanias with cases and marginalia emphasizing the exotic South and East. Tarantellas, in particular, imagined as gateways to Greece and Africa via Sicily, appeared to reach back not only to medieval and ancient Europe but also across to present-day Abyssinia. The tigretier, an African ‘variant’, and further apparent variants in Nigeria, made of the ‘dancing disease’ a feminine and soon, too, a typically colonial figure of duplicity and deceit.
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book, Simone Bar. Composition Notebook: Rick and Morty Nouveau White Variant Rick Morty Journal/Notebook Blank Lined Ruled 6x9 100 Pages. Independently Published, 2020.
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Rottenberg, Catherine A. The Rise of Neoliberal Feminism. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190901226.001.0001.
Testo completoAbstract (sommario):
Through an in-depth analysis of bestselling “how-to-succeed” books along with popular television shows and well-trafficked “mommy” blogs, The Rise of Neoliberal Feminism demonstrates how the notion of a happy work-family balance has not only been incorporated into the popular imagination as a progressive feminist ideal but also lies at the heart of a new variant of feminism. Embraced by high-powered women, from Facebook executive Sheryl Sandberg to Ivanka Trump, this variant of feminism abandons key terms, such as equal rights and liberation, advocating, instead, for a life of balance and happiness. What we are ultimately witnessing, Catherine Rottenberg argues, is the emergence of a neoliberal feminism that abandons the struggle to undo the unjust gendered distribution of labor and that helps to ensure that all responsibility for reproduction and care work falls squarely on the shoulders of individual women. Moreover, this increasingly dominant form of feminism simultaneously splits women into two distinct groups: worthy capital-enhancing women and the “unworthy” disposable female “other” who performs much of the domestic and care work. This split, not surprisingly, transpires along racial, class, and citizen-immigrant lines. The Rise of Neoliberal Feminism thus underscores the ways in which neoliberal feminism forsakes the vast majority of women, while it facilitates new and intensified forms of racialized and class-stratified gender exploitation. Given our frightening neoliberal reality, the monumental challenge, then, is how we can successfully reorient and reclaim feminism as a social justice movement.
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Fernández-Villaverde, Jesús, Pablo Guerrón-Quintana e Juan Rubio-Ramírez. Futures markets, Bayesian forecasting and risk modelling. A cura di Anthony O'Hagan e Mike West. Oxford University Press, 2018. http://dx.doi.org/10.1093/oxfordhb/9780198703174.013.14.
Testo completoAbstract (sommario):
This article demonstrates the utility of the Bayesian approach in forecasting and risk modelling regarding speculative trading strategies in financial futures markets. It first provides an overview of subjective expectations that are motivated as fair prices of futures contracts before discussing the futures markets and a portfolio mean-variance efficiency generalization. In particular, it considers the critical role of hedging to ensue attractive risk-adjusted performance. It also describes general Bayesian dynamic models and specific Bayesian dynamic linear models for assessing risk models in terms of their hedging effectiveness in the context of the risk-adjusted performance of trading strategies. The article showcases applied Bayesian thinking in the context of financial investment management, highlighting the corresponding concepts of betting and investing, prices and expectations, and coherence and arbitrage-free pricing in futures markets over the period 1990–2008.