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1
Kahán, Zsuzsanna, ed. Breast Cancer, a Heterogeneous Disease Entity. Dordrecht: Springer Netherlands, 2011. http://dx.doi.org/10.1007/978-94-007-0489-3.
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service), SpringerLink (Online, ed. Breast Cancer, a Heterogeneous Disease Entity: The Very Early Stages. Dordrecht: Springer Science+Business Media B.V., 2011.
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A, Moses Stephen, ed. AIDS in South Asia: Understanding and responding to a heterogeneous epidemic. Washington, DC: World Bank, 2006.
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N, Zsuzsanna Kah. Breast Cancer, a Heterogeneous Disease Entity. Springer, 2011.
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Tot, Tibor, and Zsuzsanna Kahán. Breast Cancer, a Heterogeneous Disease Entity: The Very Early Stages. Springer, 2014.
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Felberg, Mary A. Mitochondrial Disease and Anesthesia. Edited by Erin S. Williams, Olutoyin A. Olutoye, Catherine P. Seipel, and Titilopemi A. O. Aina. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190678333.003.0042.
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Mitochondrial disease is a genetically, biochemically, and clinically heterogeneous group of disorders that arise from defects in cellular oxidative phosphorylation, most commonly within the electron transport chain. All mitochondrial diseases involve disruption in energy production; clinical symptoms usually manifest in tissues with high energy demands although all organs may be affected. The extent of disease depends not only on the mitochondrial defect but on the numbers of dysfunctional mitochondria present in each tissue. Despite in vitro evidence that almost every anesthetic agent studied has been shown to decrease mitochondrial function, all anesthetic agents have been used safely. Discussion of the implications of mitochondrial disease for anesthetic management includes preoperative preparation, volatile and intravenous anesthetic agents, avoidance of succinylcholine, risk of malignant hyperthermia, perioperative fluids, and postoperative management.
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Yu, Shirley P., and David J. Hunter. Prospects for disease modification. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199668847.003.0035.
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The tremendous individual and societal burden underpin a strong rationale for the development of disease-modifying agents for osteoarthritis. Current approaches to managing the disease remain largely palliative and focused on alleviating symptoms, specifically pain and functional limitation. The chapter considers the multitude of tissues that potentially can be targeted in this heterogeneous disease of osteoarthritis and the agents that can modify these tissues. It first focuses on molecules targeting inflammatory pathways and then breaks that down by particular tissue targeted: specifically and in particular synovium, cartilage, and bone. There is widespread demonstration of the ability to modify osteoarthritis in preclinical models; however, this has not been translated to the human disease to the satisfaction of regulatory bodies at this point in time. There are a number of products currently in testing that demonstrate great promise although there remain considerable challenges to the demonstration of disease modification.
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Bergmann, Carsten, and Klaus Zerres. Autosomal recessive polycystic kidney disease. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0313.
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Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality with variable disease expression. Many patients manifest peri- or neonatally with a mortality rate of 30–50%, whereas others survive to adulthood with only minor clinical features. ARPKD is typically caused by mutations in the PKHD1 gene that encodes a 4074-amino acid type 1 single-pass transmembrane protein called fibrocystin or polyductin. Fibrocystin/polyductin is among other cystoproteins expressed in primary cilia, basal bodies, and centrosomes, but its exact function has still not been fully unravelled. Mutations were found to be scattered throughout the gene with many of them being private to single families. Correlations have been drawn for the type of mutation rather than for the site of the individual mutation. Virtually all patients carrying two truncating mutations display a severe phenotype with peri- or neonatal demise while surviving patients bear at least one hypomorphic missense mutation. However, about 20–30% of all sibships exhibit major intrafamilial phenotypic variability and it becomes increasingly obvious that ARPKD is clinically and genetically much more heterogeneous and complex than previously thought.
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Price, Susan. Genetic bone and joint disease. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0276.
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Genetic conditions affecting the skeleton and supporting structures are individually rare and heterogeneous. This chapter presents an approach to assessing patients with suspected skeletal dysplasia, osteogenesis imperfecta, Marfan syndrome, and Ehlers–Danlos syndrome. Skeletal dysplasias are caused by abnormalities of bone growth and modelling; the commonest non-lethal type is achondroplasia, with an incidence of 1/10 000 to 1/30 000. The typical presentation of osteogenesis imperfecta is with multiple fractures, sometimes prenatally. There may be associated short stature, bone deformity, dentogenesis imperfecta, blue sclera, and hearing loss. Most patients with osteogenesis imperfecta have mutations in COL1A1 or COL1A2. Marfan syndrome is a connective tissue disease with a pattern of symptoms related to the presence of fibrillin in tissues. Typically, affected individuals are of tall, thin stature, with long fingers and toes (arachnodactyly), a pectus deformity, and scoliosis. Between 66% and 91% of individuals with Marfan syndrome have a mutation in fibrillin-1 (FBN1; locus: 15q21). All forms of Ehlers–Danlos syndrome present with variable thinning and fragility of skin, leading to easy bruising and poor scar formation. There is skin and joint laxity. In severe forms, blood vessels and internal organs are affected.
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Betteridge, D. John, ed. Epidemiology of cardiovascular disease: the scale of the problem. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199543502.003.0001.
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• The epidemic of cardiovascular disease (CVD) has been and still is very dynamic and heterogeneous when comparing time trends and mortality rates in different places of the world.• Age-standardized CVD mortality rates have declined in some countries, mainly due to a better management of the essential risk factors.• Unfavourable trends in CVD incidence are found and foreseen in developing countries due to demographic and to adverse lifestyle changes.• Comprehensive CVD prevention strategies are needed to promote primary prevention and better implementation of effective preventive actions in patients with established CVD.
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Sokolov, Elisaveta, and K. Ray Chaudhuri. An overview of sleep dysfunction in Parkinson disease. Edited by Sudhansu Chokroverty, Luigi Ferini-Strambi, and Christopher Kennard. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199682003.003.0025.
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Disturbances in nocturnal sleep and their consequences during waking in Parkinson disease (PD) were recognized in 1817 by James Parkinson, who described sleep problems in his case series as follows: “His attendants observed, that of late the trembling would sometimes begin in his sleep, and increase until it awakened him: when he always was in a state of agitation and alarm.” Sleep disturbance in PD is complex, with a prevalence of up to 98%, and has been shown to be a key determinant of quality of life. Sleep disturbances in PD are heterogeneous, ranging from insomnia to drug-induced sleep disorders, and now can be assessed by simple validated bedside tools such as the Parkinson’s Disease Sleep Scale (PDSS). Also, sleep, contrary to previous perceptions, can be disordered not just in advanced PD, but also in the pre-motor as well as the untreated states.
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Oscar-Berman, Marlene, Trinity A. Urban, and Avram J. Holmes. Effects of Alcoholism on Neurological Function and Disease in Adulthood. Edited by Kenneth J. Sher. Oxford University Press, 2014. http://dx.doi.org/10.1093/oxfordhb/9780199381708.013.22.
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Alcoholism is associated with disparate and widespread negative consequences for brain anatomy and function. Consistent with a diffuse neurobiological profile, alcoholism is marked by a heterogeneous mix of cognitive and emotional abnormalities. Alcohol use disorders arise through diverse origins and follow an uncertain clinical course, with severity and consequences depending on many factors. The identification of specific alcoholism-related deficits is constrained both by methodological techniques employed and the distinct populations studied. To understand alcoholism-related alterations in brain structure and function, it is critical to consider the influence of contextual factors on clinical course. The optimal approach for understanding alcohol use disorders leverages a variety of scientific methodologies and clinical settings. The resulting confluence of data can provide evidence linking alterations in neurobiology with behavioral and neuropsychological effects of alcoholism. Critically, these data may help determine the degree to which abstinence and treatment facilitate the reversal of brain atrophy and dysfunction.
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Hinks, Anne, and Wendy Thomson. Genetics of juvenile rheumatic diseases. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0043.
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Juvenile rheumatic diseases are heterogeneous, complex genetic diseases; to date only juvenile idiopathic arthritis (JIA) has been extensively studied in terms of identifying genetic risk factors. The MHC region is a well-established risk factor but in the last few years candidate gene and genome-wide association studies have been utilized in the search for non-HLA risk factors. There are now an additional 12 JIA susceptibility loci with evidence for association in more than one study. In addition, some subtype-specific associations are emerging. These risk loci now need to be investigated further using fine-mapping strategies and then appropriate functional studies to show how the variant alters the gene function. This knowledge will not only lead to a better understanding of disease pathogenesis for juvenile rheumatic diseases but may also aid in the classification of these heterogeneous diseases. It may identify new pathways for potential therapeutic targets and help in the prediction of disease outcome and response to treatment.
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Hinks, Anne, and Wendy Thomson. Genetics of juvenile rheumatic diseases. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199642489.003.0043_update_002.
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Juvenile rheumatic diseases are heterogeneous, complex genetic diseases; to date only juvenile idiopathic arthritis (JIA) has been extensively studied in terms of identifying genetic risk factors. The MHC region is a well-established risk factor but in the last few years candidate gene and large-scale genome-wide association studies have been utilized in the search for non-HLA risk factors. There are now 17 JIA susceptibility loci which reach the genome-wide significance threshold for association and a further 7 regions with evidence for association in more than one study. In addition, some subtype-specific associations are emerging. These risk loci now need to be investigated further using fine-mapping strategies and then appropriate functional studies to show how the variant alters the gene function. This knowledge will not only lead to a better understanding of disease pathogenesis for juvenile rheumatic diseases but may also aid in the classification of these heterogeneous diseases. It may identify new pathways for potential therapeutic targets and help in the prediction of disease outcome and response to treatment.
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Hinks, Anne, and Wendy Thomson. Genetics of juvenile rheumatic diseases. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199642489.003.0043_update_003.
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Juvenile rheumatic diseases are heterogeneous, complex genetic diseases; to date only juvenile idiopathic arthritis (JIA) has been extensively studied in terms of identifying genetic risk factors. The MHC region is a well-established risk factor but in the last few years candidate gene and large-scale genome-wide association studies have been utilized in the search for non-HLA risk factors. There are now 17 JIA susceptibility loci which reach the genome-wide significance threshold for association and a further 7 regions with evidence for association in more than one study. In addition, some subtype-specific associations are emerging. These risk loci now need to be investigated further using fine-mapping strategies and then appropriate functional studies to show how the variant alters the gene function. This knowledge will not only lead to a better understanding of disease pathogenesis for juvenile rheumatic diseases but may also aid in the classification of these heterogeneous diseases. It may identify new pathways for potential therapeutic targets and help in the prediction of disease outcome and response to treatment.
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Ross, Clare, and Athol Wells. Idiopathic pulmonary fibrosis. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199657742.003.0010.
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Interstitial lung diseases are a complex heterogeneous group which are challenging to diagnose and treat. The diagnosis of idiopathic pulmonary fibrosis, as opposed to connective tissue interstitial lung disease, is important, as treatments and prognoses are very different. This chapter focusses on a case where this diagnosis is challenging. The evidence for the treatment of idiopathic pulmonary fibrosis is reviewed, in light of recent trials and new recommendations.
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Luqmani, Raashid. Vasculitis. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0272.
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The vasculitides are a heterogeneous group of disorders that can range from mild inflammation of blood vessels in the skin, to organ- and life-threatening diseases. The term ‘vasculitis’ is a pathological description of blood vessel wall inflammation which leads to ischaemia and infarction of the target organs. Definitions and classifications of the primary vasculitides are mainly based on the predominant calibre of the blood vessels involved but incorporate clinical, pathological, and laboratory features. The secondary vasculitides usually occur in the context of other connective tissue diseases and are not discussed further in this section. Goodpasture’s disease is not usually included in the primary vasculitides, but has compatible clinical features of pulmonary capillaritis and glomerulonephritis.
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de Vlam, Kurt. Overview of psoriatic arthritis pathogenesis. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198737582.003.0004.
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Psoriatic arthritis (PsA) is a chronic inflammatory arthritis occurring in patients with psoriasis. Some consider it as part of the heterogeneous group of diseases unified in the concept of spondyloarthritis (SpA). At least some subtypes, such as the oligoarticular and axial subtypes, can be classified as SpA. The aetiology and pathogenesis are poorly understood. An enthesitis-based model was proposed to unify skin and joint manifestation and to differentiate PsA from other rheumatic diseases such as rheumatoid arthritis and osteoarthritis. The development of PsA results from the interplay of genes, the immune response, and interaction with environmental factors. The fact that more than 80% of patients with PsA have precedent or simultaneous psoriasis suggests that the skin disease is almost a ‘condicio sine qua non’ for the development of PsA.
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Jou, J. Fay, Lori A. Aronson, and Jacqueline W. Morillo-Delerme. Mitochondrial Disorder for Muscle Biopsy. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199764495.003.0049.
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Mitochondrial disease (mtD) is a genetically, biochemically, and clinically heterogeneous group of disorders that arise most commonly from defects in the oxidative phosphorylation or electron transport chain involved in energy metabolism. These patients have an increased risk for cardiac, respiratory, neurologic, and metabolic complications from anesthesia. Consequently, there are several anesthetic considerations for patients with mtD.
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Cuzick, Jack. Preventive Therapy. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0068.
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Compared to cardiovascular medicine, where preventive treatments have long been firmly established, the development of therapies to prevent cancer is still in its infancy. Cancers are more heterogeneous and biologically complex than cardiovascular diseases, and it is challenging to identify agents that selectively block neoplastic progression in one organ without producing countervailing toxicity elsewhere. Causal pathways are less well understood for cancer than for heart disease; thus it is not surprising that the incomplete mechanistic understanding of carcinogenic pathways has yielded candidate treatments with mixed results. The balance of risks and benefits is also inherently more precarious for preventive than for therapeutic interventions. All of the patients treated therapeutically already have the disease for which the treatment is designed and can experience benefits as well as harms. This chapter discusses selected pharmacologic agents that have proven to be of value or show some promise as potential anti-cancer drugs.
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Siebert, Stefan, Sengupta Raj, and Alexander Tsoukas. The pathophysiology and immunology of axial spondyloarthritis. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198755296.003.0005.
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Ankylosing spondylitis (AS) is a heterogeneous and complex disease. While the exact pathophysiology remains unclear, significant advances have recently been made in the understanding of several implicated processes. The potential role and interplay of genetic susceptibility, biomechanics, the microbiome, and key cytokines in axial spondyloarthritis (axSpA) is described in this chapter, with particular focus on the IL-23/IL-17 pathway.
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Grazioli, Erica, Channa Kolb, and Bianca Weinstock-Guttman. Temporal and Clinical Course of Multiple Sclerosis. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199341016.003.0010.
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The temporal and clinical course of multiple sclerosis is heterogeneous, varying among patients as well as over time in the same individual. Greater specificity in describing disease classification and course is important for conduct of clinical trials as well as prognosis for individual patients. This chapter reviews the results of recent consensus panels that have further defined the relapsing and progressive forms of multiple sclerosis through clarification of clinical relapse, subclinical relapse, active disease, and progressive disease. Clinical characteristics, conventional and nonconventional magnetic resonance imaging metrics, and immunologic and genetic biomarkers that can be used to predict disease severity and course are also discussed.
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Prati, Raquel, and Olga Olevsky. Breast Cancer Staging and Treatment. Edited by Christoph I. Lee, Constance D. Lehman, and Lawrence W. Bassett. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190270261.003.0012.
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Breast carcinomas are a heterogeneous group of diseases that can be further characterized based on their histology, biomarkers, and molecular profiles. These characteristics, gathered during disease staging, provide crucial information with regard to treatment decisions. Staging has evolved from informing the operability of breast tumors to providing prognostic information, and consequently helping establish local and systemic treatment guidelines. This chapter provides a succinct overview of breast cancer staging and treatment. Topics covered include the histological classification of breast cancers, as well as classification by tumor size and location, lymph node involvement, and metastatic involvement. The topic of molecular assays for prognostic information is reviewed. Finally, current treatment paradigms, including surgery, radiation, and chemotherapy regimens for different types of breast cancer, are discussed.
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Winchester, Robert, Darren D. O’Rielly, and Proton Rahman. Genetics of psoriatic arthritis. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198737582.003.0006.
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The psoriatic phenotype is clinically heterogeneous with psoriatic arthritis (PsA) itself being heterogeneous. Studies have consistently demonstrated that PsA has a strong genetic component and disease pathogenesis encompasses a complex interplay between genetic, immunological, and environmental factors. In this chapter, we will review the genetics of PsA including the major histocompatibility complex (MHC) region and non-MHC loci. We will detail how susceptibility genes can be grouped into barrier integrity, innate immune response, and adaptive immune response (particularly Th-17 lymphocyte signalling). We will articulate how these studies strongly support PsA as genetically different from PsV and that the genetic heterogeneity is likely attributed to different HLA susceptibility alleles within the MHC region that an individual carries. Furthermore, we will highlight new emerging technologies, in particular, next-generation sequencing, which may lead to new genetic discoveries in PsA.
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Rahman, Shamima, and Mirian C. H. Janssen. Disorders of Mitochondrial Energy Metabolism. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0007.
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Mitochondrial disease can be diagnosed at every age, and the clinical presentation is very heterogeneous. In rare cases only a single organ is affected, but multisystem involvement may develop with progression of the disease. Organ systems relying most on aerobic metabolism are preferentially affected, including the central nervous system, peripheral nerves, eye, skeletal and cardiac muscle, and endocrine organs. These disorders can be classified according to whether the causative mutations affect mitochondrial DNA or nuclear DNA. Since specific treatment options are still limited, the management of mitochondrial disorders is largely supportive.
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Sudhir, Rajini. Pulmonary vasculitis. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0140.
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Pulmonary vasculitis comprises a heterogeneous group of disorders characterized by an inflammatory process damaging the vessel wall, leading to ischaemia and tissue necrosis. Wegener’s granulomatosis, Churg–Strauss syndrome, and microscopic polyangiitis are primary, small-vessel, necrotizing vasculitides linked by an overlapping clinicopathological picture and are referred to collectively as ANCA-associated systemic vasculitis. The European Vasculitis Study Group proposed a clinical staging system based on disease activity, to guide treatment.
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Bending, David, Kiran Nistala, and Lucy R. Wedderburn. Pathogenesis of juvenile idiopathic arthritis. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0060.
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Although the term juvenile idiopathic arthritis (JIA) encompasses a heterogeneous group of diseases, they all share a common pathological hallmark: inflammation of the synovium. Highly activated T cells, monocytes, and neutrophils are attracted to the joint and secrete mediators that not only perpetuate inflammation but also may attenuate immune regulation. In the oligoarticular and polyarticular forms of JIA, which are thought to be autoimmune conditions, dysregulated adaptive immunity is a likely factor in disease pathogenesis; the nature of the interactions between T effector (Teff) cells and T regulatory cells (Treg) is probably a key factor in controlling disease progression. Factors that affect the frequency and function of Tregs and/or the sensitivity of Teffs to mechanisms of immune suppression will therefore impact on the disease course. In the systemic form of JIA, however, dysregulation of innate immune pathways appears more central to disease pathogenesis resulting in augmented levels of interleukins IL-1β, IL-6, and IL-18. In the end, a final, common pathological pathway in JIA is the activation of monocytes and neutrophils, which are the principal mediators of joint inflammation and damage. This is supported by the fact that the therapies that have targeted innate cytokine pathways have shown greater success in the treatment of JIA.
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Ahmed, Ahmed I., Sarah Aldhaheri, and Allison Bannick. Inherited Metabolic Diseases (IMDs) and Pregnancy. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190667351.003.0030.
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Inherited metabolic diseases (IMDs) are rare genetic disorders: clinically heterogeneous, and they can present at any age. With the expanded newborn screening panels, many of the IMDs have been successfully screened. Early diagnosis and treatment of these conditions have led to improved neurological outcomes and overall survival of these individuals, and now many of them are reaching childbearing age. Despite treatment, the potential presence of preexisting organ involvement may not only impact their fertility potentials but also may impose a higher risk of adverse maternal and fetal outcomes. Pregnancy leads to an extra strain on maternal metabolism; this may result in the manifestation of symptoms of a previously unknown disease or a progression of a known disease. This chapter will address the possible complications of some inherited disorders of metabolism that are associated with maternal or fetal neurological manifestations such as disorders of energy metabolism (eg, mitochondrial disorders, adult onset urea cycle disorders, ornithine transcarbamylase (OTC) deficiency, amino acidopathies, phenylketonuria (PKU), and impaired fatty acid oxidation disorders). We will provide special emphasis on the available potential treatments and plan of care during pregnancy and postpartum periods.
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Oikonomopoulou, Katerina, and Vinod Chandran. Biomarkers of psoriatic arthritis outcomes. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198737582.003.0022.
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Psoriatic arthritis is an inflammatory musculoskeletal disease that occurs in patients suffering from psoriasis. The disease manifests with symptoms affecting the skin, peripheral and axial joints, and periarticular structures. Diagnosis and management of psoriatic arthritis is challenging due to its heterogeneous presentation. However, early diagnosis and subsequent appropriate treatment reduces disease activity, prevents joint damage, and improves long-term outcome. It is hoped that biomarkers for disease progression and activity will aid in cost-effective clinical management of patients. Potential biomarkers under investigation for psoriatic arthritis are disease-related components derived from skin and articular tissues, biological fluids, such as blood and synovial fluid, and arthritis-associated cell populations. Imaging including ultrasound and MRI are also being evaluated as biomarkers for diagnosis, activity and outcome. Despite the challenge of bringing these new markers into the clinic, many of these markers hold promise for the future management of patients with psoriatic arthritis.
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Isaacs, Anthony, and David Isenberg. Laboratory tests and investigations. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198739180.003.0005.
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In this chapter an overview is provided of the investigations used in patients with systemic lupus erythematosus (SLE); these establish the abnormalities that can be found in each organ/system. Lupus is a very heterogeneous condition, affecting virtually every organ/system. In consequence, numerous investigations and tests are used to help make the diagnosis and define the extent of the organ/system involvement. The chapter is divided into investigations of the effects of SLE on the following systems: haematological, immunological, biochemical, renal, cardiovascular, pulmonary, gastroenterological, neurological, dermatological, and musculoskeletal. These targeted organ/system-based investigations can then be used to assess ongoing disease activity or the consequence of damage caused by previously active disease.
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Guo, Yong, and Claudia F. Lucchinetti. Taking a Microscopic Look at Multiple Sclerosis. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199341016.003.0005.
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The pathology of multiple sclerosis is complex, extends beyond the white matter plaque, and is influenced by stage of demyelinating activity, clinical course, disease duration, and treatment. Technological advances in immunology, molecular biology, and “omic” biology have provided novel insights into the mechanisms for development of white matter plaques, axonal damage, cortical demyelination, and disease progression. Detailed, systematic, and statistically rigorous pathological studies on clinically well-characterized MS cohorts have helped define the heterogeneous pathological substrates of MS and unravel the complex molecular pathogenic mechanisms, with the ultimate goal of identifying targets for therapeutic interventions. It is increasingly clear that the use of human tissues is imperative to improve current diagnostic, prognostic, and therapeutic modalities. Preclinical animal models have been invaluable for discovery of key immune processes, basic disease mechanisms, and candidate immune targeting strategies, but the conclusions have yet be reconciled with the essential features of the human disease.
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Dean, Michael, and Karobi Moitra. Biology of Neoplasia. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0002.
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The term “cancer” encompasses a large heterogeneous group of diseases that involve uncontrolled cell growth, division, and survival, culminating in local invasion and/or distant metastases. Cancer is fundamentally a genetic disease at the cellular level. Tumors occur because clones of abnormal cells acquire multiple lesions in DNA, nearly always involving mutations, chromosomal rearrangements, and extensive alteration of the epigenome. Up to 10% of cancers also involve inherited germline mutations that are moderately to highly penetrant. Cancers begin as localized growths or premalignant lesions that may regress or disappear spontaneously, or progress to a malignant primary tumor. The somatic changes that drive abnormal growth involve activating mutations of specific oncogenes, inactivation of tumor suppressor genes, and/or disruption of epigenetic controls. The latter can result from methylation or the modification of histones and other proteins that affect the remodeling of chromosomes. Numerous non-inherited factors can cause cancer by accelerating these events.
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Lloyd, Peter, Sarah Doaty, and Bevra H. Hahn. Aetiopathogenesis of systemic lupus erythematosus. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198739180.003.0002.
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Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the presence of immune dysregulation, autoreactive B and T cells, and the production of a broad, heterogeneous group of autoantibodies (autoAb). The pathogenesis of lupus can be divided into three stages: 1) genetic predisposition and environmental exposures, 2) loss of tolerance, and 3) immune activation. In this chapter we will discuss the aetiopathogenesis of systemic lupus erythematosus with emphasis placed on key autoantibodies, cytokines, the innate and adaptive immune system, tolerance, NETosis, genetics and epigenetics, environmental triggers and the role of gender.
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Jan, Reem, and Dawen Zhang. Fibromyalgia. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190271787.003.0038.
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Fibromyalgia is caused by abnormal central pain processing, but it is often dismissed as a psychiatric or functional disorder. Perimenopausal women are most commonly affected, but the incidence in men has been underestimated. Patients present with diffuse musculoskeletal pain and frequently have sleep disturbances, fatigue, and somatic complaints. In 2010, the American College of Rheumatology removed the need for a standardized tender point examination. The disease is often misdiagnosed given its nonspecific complaints and heterogeneous presentation. Laboratory testing is used only to rule out differential diagnoses. Treatment is challenging and a multidisciplinary approach, including patient counseling and education, a graded exercise program, and pharmacologic treatment, is recommended.
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Klimo, Paul, and Nir Shimony. Ependymomas. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190696696.003.0026.
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Pediatric posterior fossa tumors are usually ependymoma, pilocytic astrocytoma, or medulloblastoma. Ependymoma appears well-demarcated with heterogeneous enhancement on magnetic resonance imaging (MRI). Full neural axis MRI is indicated to assess for metastatic disease. Management is typically surgical resection of the tumor, with consideration for cerebrospinal fluid diversion if patients present with severe hydrocephalus. Extent of resection of the tumor is the most important factor in predicting recurrence and overall survival, and gross total resection is ideal. Infratentorial ependymomas have 2 molecular subtypes, which has implications for responsiveness to adjuvant therapy and prognosis. Infratentorial ependymomas are biologically different from supratentorial ependymomas. Postoperative radiation improves local control.
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Chinoy, Hector, and Robert G. Cooper. Polymyositis and dermatomyositis. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0124.
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Polymyositis (PM), dermatomyositis (DM), and inclusion body myositis (IBM) form part of the idiopathic inflammatory myopathies (IIM), a heterogeneous group of rare autoimmune diseases characterized by an acquired proximal muscle weakness, raised muscle enzymes (including creatine kinase), inflammatory cell infiltrates in muscle biopsy tissue, electrophysiological abnormalities, and presence of circulating myositis-specific/myositis-associated autoantibodies. The underlying aetiology of IIM is poorly understood, but likely involves interactions between environmental and genetic risk factors. Myositis may also manifest in association with other connective tissue disorders. The predominant clinical presentation of IIM is skeletal muscle weakness, but many extramuscular features can also occur. Access to good neuropathological support is essential in securing an accurate IIM diagnosis and excluding non-inflammatory myopathies, although IBM is often difficult to distinguish from PM. Antibody testing can help define IIM clinical subtypes, including cancer-associated myositis, predict prognosis, and help in optimizing treatment decisions. MRI can be invaluable for differentiating disease activity from damage, and detecting treatment-induced interval changes. Therapeutic effectiveness of new and existing treatments (where the evidence base remains poor) depends on making a prompt diagnosis and initiating early and appropriately aggressive treatment to prevent establishment of muscle damage. This chapter attempts to summarize the salient features of IIM and update the reader about currently used diagnostics and treatment paradigms in this rare and understudied disease.
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Kulkarni, Kunal, James Harrison, Mohamed Baguneid, and Bernard Prendergast, eds. Geriatric medicine. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198729426.003.0010.
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Geriatric medicine is a complex specialty often complicated by factors such as multiple causation, chronic fluctuating course, and attendant functional and social factors. Such complex aetiology mandates multifactorial assessments and multifactorial interventions. Not all older people need the skills of a specialist geriatric team, but appropriate skills must either be embedded within systems managing older people, or else effective screening tools developed that enable non-specialists to recognize patients who benefit from more specialist assessment. Older people, as a group, face the greatest burden of disease and stand to benefit most from quality research—yet there is less of it. Determining the effect of complex interventions on heterogeneous populations afflicted by complex disease is inherently difficult and is made more so by high fatality, difficult follow-up, and cognitive impairment. Such patients are routinely excluded from trials that seek answers to simpler—but less common and less important—clinical questions.
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Siebert, Stefan, Sengupta Raj, and Alexander Tsoukas. Assessment and monitoring outcomes in axial spondyloarthritis. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198755296.003.0013.
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Axial spondyloarthritis (axSpA) is a heterogeneous condition with multiple effects and a variable course. Monitoring outcomes is required to optimize treatment and care. There are a significant number of outcomes that could potentially be measured in patients with axSpA. Performing these in routine clinical practice has resource and logistic implications, so clinicians and teams looking after patients with axSpA need to decide which aspects they will monitor locally. Most national and international guidelines for the use of biologics require regular monitoring of disease activity. In this chapter, we outline suggested core data sets and review some of the key validated outcomes for axSpA. These include a range of patient-reported and clinician-assessed measures covering disease activity, symptoms (such as pain, stiffness, and fatigue), function, mobility, work disability, and quality of life. We also review the roles of acute phase blood tests and imaging in monitoring axSpA.
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Abatzis, Vaia T., and Edward C. Nemergut. Transsphenoidal/Pituitary Surgery. Edited by David E. Traul and Irene P. Osborn. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190850036.003.0004.
Full textAbstract:
Patients with tumors of the pituitary gland represent a heterogeneous yet commonly encountered neurosurgical population. Optimal anesthetic care requires an understanding of the complex pathophysiology secondary to each patient’s endocrine disease. Although patients presenting with Cushing’s disease and acromegaly have unique manifestations of endocrine dysfunction, all patients with tumors of the pituitary gland require meticulous preoperative evaluation and screening. There are many acceptable strategies for optimal intraoperative anesthetic management; however, the selection of anesthetic agents should be tailored to facilitate surgical exposure, preserve cerebral perfusion and oxygenation, and provide for rapid emergence and neurological assessment. Postoperatively, careful monitoring of fluid balance and serum sodium is essential to the early diagnosis of diabetes insipidus (DI). DI is most often transient but can require medical therapy. A thorough understanding of the preoperative assessment, intraoperative management, and potential complications are fundamental to successful perioperative patient care and avoidance of morbidity and mortality.
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Tamimi, Rulla, Susan Hankinson, and Pagona Lagiou. Breast Cancer. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190676827.003.0016.
Full textAbstract:
Most of the established reproductive risk factors for breast cancer, like age at menarche or parity, are not appropriate for public health intervention. Several lines of evidence, like the associations with birthweight and early exposure to radiation, support an important influence of early-life events on subsequent breast cancer risk. The best established modifiable risk factors for the disease include postmenopausal hormone use, moderate alcohol intake, and adult weight gain. More recently, we have come to appreciate that instead of a single disease, breast cancer is rather a heterogeneous group of subtypes with different etiologies. Yet the wealth of available epidemiologic information can be synthesized into a consistent and testable, albeit still hypothetical, causal model. With our increasing knowledge on the relation between endogenous hormones and breast cancer, and the development of selective estrogen receptor modulators, as well as aromatase inhibitors, chemoprevention will likely become more common in the future.
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Richardson, Rosemary, and Isobel Davidson. The contribution of the dietitian and nutritionist to palliative medicine. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199656097.003.0048.
Full textAbstract:
Management of the nutritional consequences of disease and its treatment are now acknowledged as a key component of palliative care provision. Factors affecting the ability to eat and the consequent changes in body composition which occur with disease progression often initiate concern in patients and relatives alike. The role of the dietitian is to provide dietary counselling in partnership with the patient where realistic goal setting can be achieved. The evidence base for improvement in nutritional status is equivocal which may be expected in this heterogeneous population. However, achieving recommended energy intakes is viewed as achievable using this strategy but is resource intensive. Nutritional assessment allows for appropriate monitoring of sequential changes in nutritional status and should be the cornerstone of a dietitian’s role. Classifying a patient’s stage of cachexia appropriately may prove useful in identifying when dietetic interventions are likely to be of greatest benefit.
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Gordon, Caroline, and David Isenberg, eds. Systemic Lupus Erythematosus. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198739180.001.0001.
Full textAbstract:
Systemic lupus erythematosus (SLE) is a systemic, autoimmune disease that can affect any part of the body, causing the immune system to attack the body’s cells and tissue, and resulting in inflammation and tissue damage. It is characterized by the presence of autoreactive B and T cells and the production of a broad, heterogeneous group of autoantibodies (autoAb); the absence of a unique presentation makes its diagnosis difficult, even for qualified clinicians. Systemic Lupus Erythematosus focuses on providing a practical approach to the assessment and management of patients with this complex, multisystem, autoimmune disease, in order to improve the diagnosis and treatment of the disease and its complications. It provides detail on the history and epidemiology of SLE alongside comprehensive sections on clinical features, treatment, and special situations. As well as detailing the challenging management issues of SLE, this title provides an overview of the numerous investigations specific to the condition, assessment of disease activity, symptomatic treatment, patient education, and biologic therapies. A specific section on juvenile-onset systemic lupus erythematosus also provides the practising clinician with the knowledge needed to manage this distinct and aggressive stage of SLE.
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Sayer, John A., and Roslyn J. Simms. Nephronophthisis. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0317_update_001.
Full textAbstract:
Nephronophthisis (NPHP) is a clinically heterogeneous autosomal recessive cystic kidney disease and the leading genetic cause of end-stage renal failure in children and young adults. Whilst enlarged dysplastic cystic kidneys are associated with infantile NPHP, more typically renal ultrasound reveals normal kidney size and corticomedullary cysts in a child with polyuria and secondary enuresis. Extrarenal manifestations occur in 10–15% including retinal degeneration, cerebellar vermis hypoplasia and liver fibrosis, requiring referral to other specialists. Mutations in 18 genes have been identified to cause NPHP, but a genetic diagnosis still cannot be found in many patients. NPHP is classified as a ciliopathy because of the localization of the protein products of the associated genes. Currently there is no specific therapy for NPHP.
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Kahn, S. Lowell. Fibrin Sheath Removal Techniques. Edited by S. Lowell Kahn, Bulent Arslan, and Abdulrahman Masrani. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199986071.003.0045.
Full textAbstract:
Although autogenous arteriovenous fistula creation is the gold-standard dialysis access, catheters represent between 40% and 60% of dialysis access in the United States. Catheters are placed for a variety of reasons, commonly as temporary access for acute renal failure or as a bridge to a more permanent access in patients with end-stage renal disease. Fibrin sheaths represent a heterogeneous matrix of cells and debris that form around catheters and are a known common cause of catheter failure and central venous stenosis. Their formation is ubiquitous in the dialysis population, occurring with 80–100% of catheters within 1 week of implantation. This chapter presents several techniques for the management of the fibrin sheath—the traditional catheter stripping technique, the internal catheter stripping technique, and the fibrin sheath angioplasty technique.
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Maegawa, Gustavo H. B. Lysosomal Storage Disorders. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0068.
Full textAbstract:
The lysosomal storage disorders (LSDs) are a group of inborn organelle disorders, clinically heterogeneous, and biochemically characterized by accumulation of nondegraded macromolecules primarily in the lysosomal and other cellular compartments. Given the common and essential cellular function of the lysosomal system in different organs and systems, patients afflicted with these disorders present a broad range of clinical problems, including neurological problems, visceromegaly, and skeletal deformities. Onset of symptoms may range from fetal period to adulthood. The neurological problems include developmental delay, seizures, acroparesthesia, motor weakness, muscle wasting, behavioral/psychiatric disturbances, cerebrovascular ischemic events, and extrapyramidal signs. Patients may present with symptoms later that include psychiatric manifestations, are slowly progressive, and may precede other neurologic or systemic features. Most of LSDs are autosomal recessive; however, a few are X-linked with symptpmatic female carriers (e.g., Fabry disease). In most of them, the diagnosis is established by biochemical and/or molecular assays. In terms of management, disease-modifying therapies include enzyme replacement, hematopoietic stem cell transplantation, and substrate reduction therapy. Patients and their families require genetic counseling regarding reproductive risks, disease prognosis, and therapeutic options. Investigations of disease molecular mechanisms provide insights into potential targets for the development of therapeutic strategies. Supportive care has been the key and essential for most LSDs, resulting in substantial improvement in quality of life of patients and families.
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Cassidy, Jim, Donald Bissett, Roy A. J. Spence OBE, Miranda Payne, and Gareth Morris-Stiff. Malignancy of unknown primary. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199689842.003.0026.
Full textAbstract:
Bone and soft tissue malignancies describes a large group of sarcomas, some of which require highly specialist management, including osteosarcoma, Ewing’s sarcoma, and rhabdomyosarcoma, so that referral to an appropriate multidisciplinary team (MDT) is mandatory. Limb conserving surgery combined with pre- and postoperative chemotherapy is curative in the majority of osteosarcomas, and similar approach which may include local radiotherapy also holds for Ewing’s. Other primary bone tumours are reviewed including malignant fibrous histiocytoma, chondrosarcoma, chordoma, solitary plasmacytoma, and primary lymphoma of bone.Soft tissue sarcomas comprise a heterogeneous group of tumours, ranging from low grade pathology with at worst propensity to local recurrence after conservative surgery, to high grade disease (including extra osseous Ewing’s) where intensive chemotherapy along with surgery is standard therapy. Pre-or postoperative radiotherapy improves local control for many soft tissue sarcomas. For most soft tissue sarcomas, chemosensitivity is modest at best, offering palliative benefit in metastatic disease, but no clear survival benefit in adjuvant therapy. Gastrointestinal stromal tumours and a few others are susceptible to targeted therapy, and it is hoped that this approach may be applicable to more in the future.Metastatic disease from both bone and soft tissue sarcomas is often pulmonary, and metastectomy can provide effective treatment, particularly when lung lesion is solitary.
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Ng, Dominic S. Familial Apolipoprotein A-I Deficiency. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0036.
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Apolipoprotein (apo) A-I is the key structural protein of high-density lipoprotein (HDL) and is necessary for sustaining the circulating level of HDL. It has also been studied extensively for its role in mediating many of the antiatherosclerotic and antithrombotic properties of HDL. More than 50 naturally occurring mutations and variants have been described, and they usually result in marked HDL deficiency in a gene-dose dependent manner. However, the propensity to develop accelerated coronary heart disease (CHD) is highly heterogeneous. Mutations resulting in inability to synthesize apo A-I tend to be associated with early CHD, while mutations resulting in structurally altered apo A-I are generally not associated. Furthermore, a number of apo A-I variants, for example apo A-I Iowa or apo A-I Helsinki, have been linked to amyloidosis, resulting in potentially serious morbid complications.
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Alves, Ines Teles, Jan Trapman, and Guido Jenster. Molecular biology of prostate cancer. Edited by James W. F. Catto. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199659579.003.0059.
Full textAbstract:
Prostate cancer is a heterogeneous disease that arises through the acquisition of key malignant hallmarks. At the molecular level, prostate tumours are dependent upon the androgen receptor pathway, which affects cell function, growth, and behaviour through downstream androgen-regulated genes. Prostate cancer requires this activity and manipulates the AR pathway to maintain signalling. For example, mutation of the AR (to bind ligands other than androgens) or amplification/duplication of the AR allows signalling to continue in the absence of testosterone. Around 50% of prostate cancers have a gene fusion between the androgen-regulated component of the TMPRSS2 gene and a transcription factor (e.g. ETS family members ERG and ETV1). This results in aberrant androgen stimulated cell growth. Current research is using molecular knowledge to identify biomarkers, such as PCA3, and new therapies, such as enzalutamide or abiraterone acetate.
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Lafeber, Floris P. J. G., Nick J. Besselink, and Simon C. Mastbergen. Synovium and capsule. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199668847.003.0006.
Full textAbstract:
Synovium is an integrated tissue of the diarthrodial joints that interacts with all the other joint tissues and specifically is important in nourishment and lubrication of the articular cartilage, removal of waste products, and immunological surveillance. Chronic as well as recurrent low-grade synovial inflammation definitely contributes to progression and symptoms of certain patients with osteoarthritis. Low-grade inflammation may even be causative in the disease. The challenge is that osteoarthritis is a heterogeneous disorder with inflammation not only of the synovial tissue but with its mediators also present in cartilage and bone. Therefore, despite the presence of inflammatory mediators, in some cases synovitis may be seen as a bystander and not as a driving force in pathogenesis. Future research must be directed toward defining the risk-to-benefit ratio for (systemic) anti-inflammatory therapy, especially when targeting mediators of low-grade inflammation.
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Lories, Rik. Mechanisms of bone destruction and proliferation in psoriatic arthritis. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198737582.003.0008.
Full textAbstract:
Psoriatic arthritis is a chronic inflammatory joint disease that can affect both the peripheral and axial skeleton. The clinical presentation of psoriatic arthritis is very heterogeneous and different subforms have been described. Structural damage to the joint is a feared complication of psoriatic arthritis. The severity of joint inflammation and subsequent damage can range from mild to extreme. Over the last decade, insights into the molecular and cellular mechanisms that underlie the skeletal changes in psoriatic arthritis have gradually increased although translational validation of concepts using patient-derived materials still lags behind. Current treatment strategies directed against key mediators of inflammation appear to have good effects on joint destruction, but their short and long-term impact on new bone formation and ankylosis is still unclear. The identification of the role that key growth factors play in the latter process identifies new opportunities for therapeutic interventions.