Книги: "Genetic disorders Pathophysiology"

1

Ahuja, Satpal. Usher syndrome: Pathogenesis, diagnosis, and therapy. Hauppauge, N.Y: Nova Science Publishers, 2011.

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2

Nicola, Cirillo. Techniques in epidermal biology: An integrated approach to autoimmune skin disease. Hauppauge, N.Y: Nova Science Publishers, 2011.

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3

Transcription factors and human disease. New York: Oxford University Press, 1998.

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4

Simmons Center International Conference on HLA-B27 Related Disorders (2nd 1991 Dallas, Tex.). HLA-B27⁺ Spondyloarthropathies: Proceedings of the second Simmons Center International Conference on HLA-B27 Related Disorders held April 10-14, 1991 in Dallas, Texas. Edited by Lipsky Peter E and Taurog Joel D. New York: Elsevier, 1991.

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5

Magne, Ueland Per, and Rozen Rima, eds. MTHFR polymorphisms and disease. Georgetown, Tex: Landes Bioscience/ Eurekah.com, 2005.

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6

Cohen, Sidney. The chemical brain: The neurochemistry of addictive disorders. Irvine, Calif: CareInstitute, 1988.

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7

Fuchs, Jürgen, 1957 June 28-, Podda Maurizio 1965-, and Packer Lester, eds. Redox-genome interactions in health and disease. New York: M. Dekker, 2004.

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8

Steven, Whitney, ed. The addiction solution: Unraveling the mysteries of addiction through cutting-edge brain science. New York: Rodale, 2010.

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9

Lovelace, Robert E. Charcot-Marie-Tooth disorders: Pathophysiology, molecular genetics and therapy. Chichester: Wiley, 1990.

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10

International Conference on Charcot-Marie-Tooth Disease (2nd 1987 Harriman, N.Y.). Charcot-Marie-Tooth disorders: Pathophysiology, molecular genetics, and therapy. Edited by Lovelace Robert E and Shapiro Howard K. New York: Liss, 1990.

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11

Michael, Krawczak, ed. Venous thrombosis: From genes to clinical medicine : the molecular genetics of an archetypal multigene disorder. Oxford: Bios Scientific Pub., 1997.

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12

David, Isenberg, and Rademacher T. W, eds. Abnormalities of IgG glycosylation and immunological disorders. Chichester: Wiley, 1996.

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13

E, Vance Dennis, and Vance Jean E, eds. Biochemistry of lipids, lipoproteins, and membranes. Amsterdam: Elsevier, 1991.

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14

Ernesto, Carafoli, and Brini Marisa, eds. Calcium signalling and disease: Molecular pathology of calcium. New York: Springer, 2007.

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15

Takao, Kumazawa, Kruger Lawrence, and Mizumura Kazue, eds. The polymodal receptor: A gateway to pathological pain. Amsterdam: Elsevier, 1996.

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16

Blanco, Ignacio. Blanco's Overview of Alpha-1 Antitrypsin Deficiency: History, Biology, Pathophysiology, Related Diseases, Diagnosis and Treatment. Elsevier Science & Technology Books, 2017.

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17

Blanco, Ignacio. Blanco's Overview of Alpha-1 Antitrypsin Deficiency: History, Biology, Pathophysiology, Related Diseases, Diagnosis and Treatment. Elsevier Science & Technology Books, 2017.

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18

Pittenger, Christopher. The Neurobiology of Tic Disorders and Obsessive-Compulsive Disorder. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0065.

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Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS), along with other tic disorders, involve pathophysiological alterations in the cortico-striatal circuitry. Both are neurodevelopmental conditions, although OCD can also have adult onset. They are frequently comorbid and often run together in families. Recent genetic studies suggest shared risk factors, especially in the case of early-onset OCD. Because of these shared characteristics, they are treated together here. Structural and functional neuroimaging studies are refining our understanding of the abnormalities in corticostriatal connectivity that accompany symptomatology; in the case of TS, these have been accompanied by exciting observations in postmortem tissue that are beginning to connect observed anatomical and network abnormalities to underlying cellular substrates. Finally, recent advances in animal modeling of pathophysiology have allowed testing of specific etiological hypotheses and have established several systems in which more precise mechanistic studies of pathophysiology are now proceeding.

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19

Youngblood, Mark W., and Hal Blumenfeld. Biological Basis of Primary Generalized Epilepsies—Pathophysiology. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0037.

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The primary generalized epilepsies include a heterogeneous group of seizures including absence, myoclonic, and generalized tonic-clonic seizures that are not strictly localized on EEG and not secondary to another disorder. The seizures are often associated with a loss of consciousness and may present with motor manifestations, including convulsions and arrest of respiration. Generalized spike-and-wave discharges on electroencephalogram are a uniting feature, and this pattern of activity is a direct manifestation of the underlying mechanism of these disorders. A review of important underlying circuitry will set the stage to discuss the pathological and genetic basis of these disorders, and the chapter will conclude with a review of current and potential therapeutics.

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20

Semenza, Gregg L. Transcription Factors and Human Disease (Oxford Monographs on Medical Genetics). Oxford University Press, USA, 1989.

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21

Drouin-Ouellet, Janelle, and Roger A. Barker. Disease-Modifying Therapies in Neurodegenerative Disorders. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190233563.003.0016.

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The recent identification of the genetic basis of many neurodegenerative disorders (NDDs), coupled with a greater understanding of their pathophysiology, has enabled better therapeutic strategies to be identified and tried. This includes approaches that target critical specific nodes in the disease pathways, for example, agents that modulate levels of mutant huntingtin in Huntington’s disease. In addition to these highly specific targeted therapies, there is also a growing realization that more generic lifestyle therapies influencing whole brain health may also have merit in treating these conditions-such as diet and exercise. This chapter explores the different approaches and agents used to try to modify the course of a range of NDDs, and highlights their progress relative to the clinic and the patients suffering with these currently incurable conditions.

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22

Tombetti, Enrico, and Justin C. Mason. Pathophysiology of vasculitis. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198755777.003.0017.

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Vasculitis represents a spectrum of disorders that are often divided on the basis of the predominant vessel size affected into large-, medium- and small-vessel vasculitides. This chapter will focus on the pathogenesis of the anti-neutrophil cytoplasmic antibody (ANCA)-associated medium- and small-vessel vasculitides (AAV), and large-vessel vasculitis, Takayasu arteritis, and giant cell arteritis. Underlying pathogenic mechanisms in vasculitis remain to be fully understood. In particular, the initiating event(s) are not known. A combination of infectious or other environmental triggers on a susceptible genetic background is currently favoured. In addition to the vessel size affected, the mechanisms of vascular injury vary. Moreover, extravascular granulomatosis may play an important role in disease manifestations. The innate and adaptive immune systems contribute to its pathogenesis. Although pathogenic antibodies have not been identified in large-vessel vasculitis, ANCA are directly implicated in small- and medium-vessel AAV. Disease manifestations are varied and diverse and may include arterial stenosis or aneurysms, glomerulonephritis and renal failure, gastro-intestinal, pulmonary, cutaneous, and neurological complications, visual disturbance, deafness, and nasal bridge collapse. Life-threatening cardiovascular disease is also seen, with myocarditis, pericarditis, valvular heart disease, thrombosis, systemic and pulmonary arterial hypertension, and accelerated coronary heart disease all reported. Despite this, the prognosis for patients with vasculitis has improved significantly in recent decades. Further understanding of the pathogenesis of vasculitis will lead to the discovery of further therapeutic targets and novel, safer biologic therapies.

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23

Purcell, Shaun M. Genetic Methodologies and Applications. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0001.

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Mental illness is highly heritable, yet it has been difficult historically to identify the specific genes that comprise that risk. This difficulty resides in the fact that the genetic risk for all common mental disorders is polygenic, with perhaps hundreds of genetic variations, each of small effect, contributing to the overall risk. Despite these challenges, the field has made dramatic advances over the past decade in beginning to understand the genetic basis of mental illness. This chapter provides an overview of the experimental approaches used, beginning with epidemiology and population genetics to define the heritability of an illness, to classic studies of large families and linkage disequilibrium analysis, to genome-wide investigations including genome-wide association studies (GWAS), exome sequencing, and whole genome sequencing. Increasingly, these genetic advances are being understood within the biological context of disease pathophysiology.

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24

(Editor), Jürgen Fuchs, Maurizio Podda (Editor), and Lester Packer (Editor), eds. Redox-Genome Interactions in Health and Disease (Oxidative Stress and Disease). CRC, 2003.

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25

Poppe, Andrew, and Angus W. MacDonald III. Cognitive Neuroscience Approaches to Personality Disorders. Edited by Christian Schmahl, K. Luan Phan, Robert O. Friedel, and Larry J. Siever. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199362318.003.0004.

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This chapter describes a cognitive neuroscience approach to understanding the psychological and neural processes that underlie personality and behavior. It explicates the utility of the cognitive neuroscience approach and the fundamental principles of the methods and how to interpret the findings. The chapter reviews the different neuroimaging tools and approaches that can be used to investigate brain structure and function. In doing so, it provides detailed information about what each method measures and how issues to consider when evaluating these measurements and their functional significance. The chapter provides the reader an appreciation of how understanding brain structure and function in vivo can serve as a bridge between molecular/genetic and symptom-based data to enrich the pathophysiology of personality disorders.

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26

1931-, Bellugi Ursula, St George Marie, and Galaburda Albert M. 1948-, eds. Journey from cognition to brain to gene: Perspectives from Williams Syndrome. Cambridge, Mass: MIT Press, 2001.

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27

Whitney, Steven, and David Kipper. The Addiction Solution: Unraveling the Mysteries of Addiction Through Cutting-Edge Brain Science. Rodale Books, 2011.

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28

Hyman, Steven E. The Present and Future of Psychiatric Diagnosis. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0070.

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Psychiatric disorders are currently diagnosed according to the Diagnostic and Statistical Manual of Mental Disorders and the closely related International Classification of Diseases. Both diagnostic classification schemes are descriptive and based on a collection of signs and symptoms associated with a given disorder. The fundamental weakness of the schemes is that they are not based on the underlying genetic or neurobiological etiology or pathophysiology of a disorder which of course remain unknown for all common psychiatric syndromes. As more is learned about the biological basis of a mental disorder it will be possibly increasingly to build more accurate diagnostic schemes with greater prognostic and treatment validity.

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29

Graves, Tracey. Neurogenetic disease. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0223.

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There are many genetic diseases which affect the nervous system. Although some of these are extremely rare, several are quite common and, as a group, they comprise a significant proportion of neurological disease. Almost all clinical neurological syndromes can have a genetic cause. Not all of these have been genetically elucidated, but some have been extensively characterized in terms of clinical phenotype, molecular genetics, and cellular pathophysiology. Given the improvement in laboratory techniques and subsequent reduction in the cost of direct DNA sequencing, there is likely to be a rapid expansion over the next decade in the identification of causative genes and hence the availability of genetic tests. Thus, all clinicians should have a basic understanding about genetic disease; inheritance patterns; availability of genetic tests; genetic counselling; and ethics. Particular subspeciality areas where neurogenetic disease is common include neuromuscular disease and movement disorders.

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30

J, Weatherall D., ed. Disorders of hemoglobin: Genetics, pathophysiology, and clinical management. 2nd ed. Cambridge: Cambridge University Press, 2009.

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31

Forget, Bernard G., Douglas R. Higgs, David J. Weatherall, and Martin H. Steinberg. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge University Press, 2010.

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32

Forget, Bernard G., Douglas R. Higgs, David J. Weatherall, and Martin H. Steinberg. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge University Press, 2009.

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33

(Foreword), H. Franklin Bunn, Martin H. Steinberg (Editor), Bernard G. Forget (Editor), Douglas R. Higgs (Editor), and Ronald L. Nagel (Editor), eds. Disorders of Hemoglobin: Genetics, Pathophysiology and Clinical Management. Cambridge University Press, 2001.

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34

Forget, Bernard G., Douglas R. Higgs, David J. Weatherall, and Martin H. Steinberg. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge University Press, 2009.

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35

Forget, Bernard G., Douglas R. Higgs, David J. Weatherall, and Martin H. Steinberg. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge University Press, 2009.

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36

Feusner, Jamie D., and Danyale McCurdy-McKinnon. Body Dysmorphic Disorder. Edited by Christopher Pittenger. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190228163.003.0050.

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This chapter covers the latest studies addressing neurobiological and genetic/heritable factors that may contribute to body dysmorphic disorder (BDD). BDD affects approximately 2% of the population and involves perceived defects of appearance along with obsessive preoccupation and repetitive, compulsive-like behaviors. Studies of visual processing suggest that disturbances in visual perception and visuospatial information processing, characterized by heightened attention to detail and impairment in holistic and global assessment, contribute to the condition. Also reviewed are studies of brain circuitry in BDD, which implicate white matter and structural connectivity abnormalities as playing possible roles in the pathophysiology of BDD. Finally, this chapter reviews the evidence that the susceptibility for BDD may be partly heritable and that there may be shared genetic factors among the obsessive-compulsive and related disorders (of which BDD is a member) as a group.

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37

McCurdy-McKinnon, Danyale, and Jamie D. Feusner. Neurobiology of Body Dysmorphic Disorder : Heritability/Genetics, Brain Circuitry, and Visual Processing. Edited by Katharine A. Phillips. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190254131.003.0020.

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This chapter covers studies addressing neurobiologic factors that may contribute to body dysmorphic disorder (BDD). There are indications that neurobiologic abnormalities are associated with symptoms in BDD. This includes evidence that the susceptibility for BDD may be partly heritable and that there may be shared genetic factors among the obsessive-compulsive and related disorders (of which BDD is a member) as a group. In addition, studies of brain circuitry in BDD implicate white matter and structural connectivity abnormalities as playing possible roles in the pathophysiology of BDD. Furthermore, studies of visual processing suggest that disturbances in visual perception and visuospatial information processing, characterized by heightened attention to detail and impairment in holistic and global assessment, are also contributory.

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38

Genesis, Pathophysiology and Management of Venous and Lymphatic Disorders. Elsevier, 2022. http://dx.doi.org/10.1016/c2020-0-03522-x.

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39

Dodman, Nicholas H., and Louis Shuster. Spontaneously Occurring Animal Models of OCD. Edited by Christopher Pittenger. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190228163.003.0032.

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This chapter summarizes what we know about compulsive behavioral disorders in several animal species. Animals can develop repetitive behaviors in a range of circumstances, generally associated with anxiety or stress. It is increasingly apparent that these behaviors recapitulate core features of obsessive-compulsive disorder. They are clearly partially genetic; for example, specific breeds of dog are susceptible to specific compulsive behavioral disorders. Understanding such OCD-like behaviors provides a potentially fruitful avenue towards understanding OCD in humans. This chapter reviews this literature, emphasizing the points of parallelism between repetitive behavior syndromes in animals and human disease. Recent advances in our understanding of the biology of these spontaneously occurring animal models, especially in dogs, have great potential to elucidate the pathophysiology of OCD.

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40

Pittenger, Christopher, ed. Obsessive-compulsive Disorder. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190228163.001.0001.

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Obsessive-compulsive disorder (OCD) affects approximately 1 person in 40 and causes great morbidity and suffering worldwide. While much about this protean disorder remains unclear, our understanding has advanced along many fronts in recent decades, and evidence-based treatments can produce benefit in a majority of sufferers. This text brings together experts in all aspects of OCD, including clinical presentation, current psychological, genetic, and neurobiological understanding of its etiology and pathophysiology, and psychotherapeutic, pharmacological, and anatomically targeted treatments. OCD-related disorders and common comorbidities and their relationship to OCD itself are also discussed, as are theoretical and sociological issues. It is hoped that this text will provide a comprehensive introduction to the field for students, scientists and clinicians. By bringing together many different perspectives on OCD, we aim to encourage cross-disciplinary understanding, research, and advances in clinical care.

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41

Sousek, Alexandra, and Mehdi Tafti. The genetics of sleep. Edited by Sudhansu Chokroverty, Luigi Ferini-Strambi, and Christopher Kennard. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199682003.003.0005.

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Although there is strong evidence for a genetic contribution to inter-individual variations in sleep, the underlying factors and their interaction remain largely elusive. Much effort has been expended in studying genetic variations contributing to circadian and sleep phenotypes, the individual pattern of the human sleep EEG, reactions to sleep loss, and the pathophysiology of sleep-related disorders. Certain sleep-related diseases may be caused by single genes, while the etiology of others seems to be variable and complex. This is especially the case when the immune system is involved. This chapter reports on twin and familial studies, genetic variations and mutations affecting neurotransmitters and other signaling pathways and thereby affecting sleep, and impacts of gene expression processes and the immune system on sleep. Although much knowledge has been gained, further research is needed to elucidate the all-embracing mechanisms and their interactions that regulate sleep.

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42

Pillai, Jagan A., and James B. Leverenz. Pathogenesis of Lewy Body Dementia. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0020.

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This chapter discusses the Pathogenesis of Lew Body Dementia. The Lewy body dementias (LBDs) are a spectrum of dementing neurodegenerative disorders underpinned by the pathological accumulation of α- synuclein protein in both intraneuronal inclusions, “Lewy bodies, ” and neuronal processes, “Lewy neurites”. The chapter concludes that, as with other forms of cognitive impairment in the aged, the pathophysiology of cognitive impairment in LBD is likely multifactorial. Although it appears that α- synuclein pathology, particularly in the limbic and neocortical regions are linked to cognitive changes, other pathologies such as AD likely also play a role. Emphasizing the complexity, a number of genetic factors have been implicated in the LBDs, some specifically with associations to the synucleinopathies and some with other pathophysiologic processes. This complexity will need to be considered as therapeutic interventions are evaluated for the LBD.

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43

Sonuga-Barke, Edmund J. S. Attention-Deficit/Hyperactivity Disorder. Edited by Philip David Zelazo. Oxford University Press, 2013. http://dx.doi.org/10.1093/oxfordhb/9780199958474.013.0022.

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In this chapter I review the literature on attention-deficit/hyperactivity disorder (ADHD) with the aim of providing a developmental synthesis. In the first section I ask: What is ADHD? I conclude that it is a relatively broad construct that, although having validity as a mental disorder dimension and utility as diagnostic category, is frequently comorbid with, but can be distinguished from, other disorders, and is highly heterogeneous. In the second section I ask: What causes ADHD? I conclude that ADHD has a complex set of causes implicating multiple genetic and environmental risks (and their interaction) reflected in alterations in diverse brain systems. The causal structure of ADHD is heterogeneous, with different children displaying different etiological and pathophysiological profiles. In the third section I reflect on developmental considerations. I conclude that ADHD-type problems present in different forms throughout the lifespan from the preschool period to adulthood and that existing data suggest patterns of continuity and discontinuity that support a lifespan perspective both at the level of clinical phenotype and underlying pathophysiology. In the light of this I argue for a developmental reconceptualization of the disorder, grounded in a biopsychosocial framework that would allow the complexity and heterogeneity of the condition to be understood in terms of risk, resilience, and protective factors, as well as mediating and moderating processes. I review the implications of the developmental perspective for nosological and diagnostic formulations of the condition. In the last section I set out priorities for future research in the genetics, imaging, neuropsychology, and treatment of the condition.

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44

Charcot-Marie-Tooth disorders: Pathophysiology, molecular genetics, and therapy (Neurology and neurobiology). Liss, 1989.

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45

Turner, Helen E., Richard Eastell, and Ashley Grossman, eds. Endocrinology (Oxford Desk Reference). Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199672837.001.0001.

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Oxford Desk Reference: Endocrinology provides an overview of the principles of endocrinology, a detailed pathophysiology of disorders of the endocrine system, and practical advice on the clinical presentation of the spectrum of endocrine disease. Written by over 100 international experts, it discusses the diagnosis, management, and relevant genetic and immunological aspects of endocrine disorders. Whilst discussion of common endocrine conditions is comprehensive, it also includes rare syndromes with useful guidance on screening and follow-up. Providing clinical advice to endocrinologists, general physicians, and specialist nurses, it also includes background to biochemical, immunological, genetic, and epidemiological aspects of endocrinology. It is extensively cross-referenced, with suggestions for further reading, includes links to recent international guidelines, and is illustrated throughout with diagrams, tables, and radiological images. There is a quick reference section which covers algorithms for investigation and management of commonly encountered clinical scenarios for use in the clinic. There is an outpatient resource for explanation of endocrine conditions to patients using diagrams of common conditions while in the clinic, in addition to patient support groups and advice, and discussion on legal aspects of medicine and driving regulations. This should be a very useful resource for all involved in the assessment and management of any patient with any form of a possible endocrine disorder.

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46

Lovelace, Robert, ed. Charcot-marie-tooth Disorders: PATHOPHYSIOLOGY, MOLECULAR GENETICS, AND THERAPY (DISCONTINUED (Neurology and Neurobiology)). John Wiley & Sons, 1990.

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47

Nielsen, David A., Dmitri Proudnikov, and Mary Jeanne Kreek. The Genetics of Impulsivity. Edited by Jon E. Grant and Marc N. Potenza. Oxford University Press, 2012. http://dx.doi.org/10.1093/oxfordhb/9780195389715.013.0080.

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Impulsivity is a complex trait that varies across healthy individuals, although when excessive, it is generally regarded as dysfunctional. Impulsive behavior may lead to initiation of drug addiction that interferes with inhibitory controls, which may in turn result in facilitation of the individual’s impulsive acts. Although environmental factors play a considerable role in impulsive behavior, a body of evidence collected in twin studies suggests that about 45% of the variance in impulsivity is accounted for by genetic factors. Genetic variants studied in association with impulsivity include those fortryptophan hydroxylase 1 and 2 (TPH1 and TPH2), the serotonintransporter (SERT), serotonin receptors, and genes of the monoamine metabolism pathway (e.g., monoamine oxidase A, MAOA). Other systems may also play a role in these behaviors, such as the dopaminergic system (the dopamine receptors DRD2, DRD3, and DRD4, and the dopamine transporter, DAT), the catecholaminergic system (catechol-O-methyltransferase, COMT), and the GABAergic system (GABAreceptor subunit alpha-1, GABRA1; GABA receptor subunit alpha-6, GABRA6; and GABA receptor subunit beta-1, GABRB1). Taking into account involvement of the hypothalamic-pituitary-adrenal (HPA) axis, the number of candidate genes implicated in impulsivity may be increased significantly and, therefore, may go far beyond those of serotonergic and dopaminergic systems. For a number of years, our group has conducted studies of the association of genes involved in the modulation of the stress-responsive HPA axis and several neurotransmitter systems, all involved in the pathophysiology of anxiety and depressive disorders, impulse control and compulsive disorders, with drug addiction. These genes include those of the opioid system: the mu- and kappa-opioid receptors (OPRM1 and OPRK1) and the nociceptin/orphaninFQ receptor (OPRL1); the serotonergic system: TPH1 and TPH2 and the serotonin receptor 1B (5THR1B); the catecholamine system: COMT; the HPA axis: themelanocortin receptor type 2 (MC2R or adrenocorticotropic hormone, ACTHR); and the cannabinoid system: the cannabinoid receptor type 1 (CNR1). In this chapter we will focus on these findings.

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48

Soileau, Michael J., and Kelvin L. Chou. Parkinson Disease. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0002.

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Parkinson disease is a neurodegenerative disorder characterized clinically by tremor, rigidity, bradykinesia, and postural instability and pathologically by loss of nigrostriatal neurons and deposition of alpha-synuclein in neuronal cell bodies and neuritis. Non-motor symptoms such as psychiatric disorders, cognitive abnormalities, sleep dysfunction, autonomic dysfunction, and sensory manifestations are also common. This chapter gives a broad overview of this disorder. Sections cover pathophysiology, genetics, clinical manifestations, and disease course. The chapter also briefly discusses how to make the diagnosis, and alternative conditions that should be considered.

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49

Charlson, Robert W., and Matthew S. Robbins. Migraine and Other Headache Disorders. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0047.

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In recent years, the characterization of the neurobiology of migraine and other headache disorders has been driven by the search to better understand several key factors: genetics, the role of neuromodulators such as calcitonin gene-related peptide (CGRP), processes including central and peripheral sensitization, neurogenic inflammation, central pain networks, and areas of activation demonstrated by advancing functional neuroimaging techniques. Yet the ultimate causes of migraine remain unknown. Nonetheless, recent work has advanced our understanding of this complex disorder, and pointed toward a future where these modalities may provide an integrated understanding of its pathophysiology and provide specific treatment targets.

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Taylor, Eric. Developmental Neuropsychiatry. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780198827801.001.0001.

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Neurodevelopmental disorders are a group of conditions involving alterations of behaviour, thinking, and emotions. They have onsets in early childhood, persistence into adult life, and high rates of altered cognitive and neurological function. They are frequent reasons for referral to psychiatry, paediatrics, and clinical psychology and often require team approaches to meet a variety of needs for service. This book includes accounts of the typical development and possible pathology of key functions whose alterations can underlie problems of mental development: motor function, attention, memory, executive function, communication, social understanding and empathy, reality testing, and emotional regulation. It goes on to descriptions of frequent clinical conditions: the spectra of attention deficit hyperactivity disorder (ADHD), autism, tic disorders, coordination and learning difficulties, intellectual disability, and the psychotic disorders of young people. There are descriptions of recognition, diagnosis, prevalence, pathophysiology, and consequences for later development. These conditions very often coexist and present as dimensions rather than categorical illnesses. The effects of brain disorders on mental life are then considered, with special attention to epilepsy, cerebral palsy, hydrocephalus, acquired traumatic injury to the head, localized structural lesions, and endocrine and genetic disorders. Widely used treatments, both psychological and physical, are described in the context of their value for meeting multiple, often overlapping needs. Consequences of the conditions for individuals’ psychosocial development are described: stigma; physical illness and injury; economic disadvantage; and family, peer, and school stresses. This book is aimed at clinicians of all disciplines, clinical students, and educators encountering neuropsychiatric problems in young people.

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