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1

Staedtke, Verena, and Eric H. Kossoff. Epilepsy Syndromes in Childhood. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0074.

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Epilepsy syndromes of childhood are a heterogeneous group of disorders that occur at specific neurodevelopmental stages, with a variable prognosis ranging from benign to catastrophic. In clinical practice they are categorized based on seizure type, age of onset, clinical presentation, electroencephalographic (EEG) findings, as well as response to treatment. In addition, recent advancements in neuroimaging and genetic testing have become important diagnostic tools revealing underlying defects for some of these syndromes. This knowledge has consequences for clinical practice, as it opens new per
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2

Shaibani, Aziz. Pseudoneurologic Syndromes. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0022.

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The term functional has almost replaced psychogenic in the neuromuscular literature for two reasons. It implies a disturbance of function, not structural damage; therefore, it defies laboratory testing such as MRIS, electromyography (EMG), and nerve conduction study (NCS). It is convenient to draw a parallel to the patients between migraine and brain tumors, as both cause headache, but brain MRI is negative in the former without minimizing the suffering of the patient. It is a “software” and not a “hardware” problem. It avoids irritating the patient by misunderstanding the word psychogenic whi
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3

Moeller, Friederike, Ronit M. Pressler, and J. Helen Cross. Genetic generalized epilepsy. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199688395.003.0027.

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This chapter provides an overview of generalized epilepsies (GGE), which comprises a group of epilepsy syndromes of presumed genetic origin. They are classified into several syndromes according to their age, depending on clinical manifestation and associated electroencephalogram (EEG) features. The chapter introduces the concept of GGE before addressing different GGE syndromes, describing their clinical presentation, EEG features, treatment, prognosis, and underlying genetics. The following GGE syndromes are discussed in order of their age of onset—myoclonic astatic epilepsy, childhood absence
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4

Nita, Dragos A., Miguel A. Cortez, Jose Luis Perez Velazquez, and O. Carter Snead. Biological Bases of Symptomatic Generalized Epilepsies in Children. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0040.

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Symptomatic generalized epilepsies represent a group of challenging epilepsy syndromes, most often seen in children, which share the hallmark of a triad encompassing multiple seizure types, electroencephalographical (EEG) evidence of diffuse brain involvement, and dysfunction in the intellectual domain (global developmental delay or mental retardation). SGEs include the early myoclonic encephalopathy, early infantile epileptic encephalopathy (Ohtahara syndrome), West syndrome, epilepsy with myoclonic-astatic seizures, epilepsy with myoclonic absence, Lennox-Gastaut syndrome, and the progressiv
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5

Neary, John, and Neil Turner. Nutcracker syndrome and phenomenon. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0048.

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Nutcracker syndrome describes symptomatology associated with obstruction to the left renal vein caused by pressure from the overlying superior mesenteric artery. Modern imaging methods show that some degree of left renal vein obstruction may be a common incidental finding in asymptomatic patients so it is better described as ‘nutcracker phenomenon’, NCP. The association of NCP with symptoms and signs is often speculative. NCP may be seen at any age but most patients with symptoms attributed to it are teenagers or young adults. The strongest evidence is for association with episodic macroscopic
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6

Terplan, Mishka. Pain and Addiction in Women (DRAFT). Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190265366.003.0032.

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Women experience pain differently than men and suffer unique pain conditions. Pain syndromes frequently overlap in women and can be associated with co-occurring mental health disorders, addiction, and intimate partner violence as well as childhood sexual abuse. A discussion of extant concepts for understanding pain in women includes gender-role theory, exposure theory, and vulnerability theory. The chapter focuses predominantly on women of child-bearing age, and their unique risks and management requirements; consequently, contraceptive needs and fulfillment are reviewed for their place in the
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7

Howe, Peter. Craniosynostosis Repair. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199764495.003.0028.

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Craniosynostosis is a condition in which one or more of the fibrous sutures in an infant skull fuses prematurely. This may lead to restricted skull and brain growth and elevated intracranial pressure. Many children with craniosynostosis undergo corrective cranioplasty in infancy, an age when the skull is relatively large in proportion to the rest of the body. Depending on the operation, it is common for blood loss to be substantial and exceed the child's estimated blood volume (EBV). Managing this blood loss is challenging and requires careful planning for fluid and blood product administratio
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8

Piggott, Margaret Ann. Neurochemical pathology of dementia. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199644957.003.0007.

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This chapter considers the neurodegenerative disorders Alzheimer’s disease (AD), Lewy body dementias (dementia with Lewy bodies (DLB) and Parkinson’s disease dementia(PDD)), frontotemporal dementia (FTD); and also vascular dementia (VaD) which results from cerebrovascular disease. These different conditions, which give rise to dementia syndromes, each have distinct neurochemical pathologies, with important implications for treatment. As increased age is the common risk factor generally associated with dementing illnesses, neurochemical changes are set in the context of the changes which occur
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9

Keat, Andrew. Oligoarticular disease. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0008.

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Oligoarthritis is a pattern of arthritis which most commonly resolves into a member of the spondyloarthritis family or sarcoidosis. Uncommonly it progresses to forms of arthritis more commonly associated with polyarthritis or monoarthritis and rarely it is associated with malignant or paraneoplastic syndromes. Three key aspects of diagnosis are consideration of possible diagnoses in the patient's age and ethnic groups; careful consideration of the personal and family history; and a search for and correct identification of characteristic associated features. This frequently involves collaborati
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10

Krishnan, Vaishnav, Bernard S. Chang, and Donald L. Schomer. The Application of EEG to Epilepsy in Adults and the Elderly. Edited by Donald L. Schomer and Fernando H. Lopes da Silva. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190228484.003.0019.

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Surface or scalp electroencephalography (EEG) has become an indispensable tool for the diagnosis, classification, and care of patients with epilepsy across the age spectrum. This chapter provides an overview of interictal and corresponding ictal scalp EEG patterns observed in adults with certain classical epilepsy syndromes. In patients with one or more new-onset seizures, the value of EEG testing begins with a close examination of the interictal record. The morphology, frequency, and topography of interictal epileptiform discharges (when present) are typically sufficient to broadly distinguis
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11

Astarci, Parla, Laurent de Kerchove, and Gébrine el Khoury. Aortic emergencies. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199687039.003.0061.

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Acute aortic dissections account for the leading and most feared of aortic emergencies. Acute dissections are associated with a dreadful mortality rate; therefore, an accurate diagnosis and immediate treatment are mandatory. The key point of a lifesaving management strategy is the distinction between acute type A dissection, uncomplicated type B dissection, and complicated type B dissection, and those including contained ruptured aorta (severe pleural effusion) and/or malperfusion syndrome (by end-organ ischaemia: paraplegia, intestinal ischaemia, renal insufficiency, limb ischaemia). Type A g
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12

Chen, Mimi, and Rob Andrews. Obesity: epidemiology, prevention and management. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0336.

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Obesity has been around for more than 20 000 years, as evidenced by statuettes produced in the Stone Age. Body mass index (BMI), calculated as weight divided by the square of the height, is one of the simplest and most common ways of defining obesity. A BMI between 18.5 and 24.9 is classed as normal. BMI values of 25.0–29.9 suggest overweight, and any values over 30 are deemed obese. Across populations, BMI is closely associated with whole body adiposity, and the cut-off levels for overweight and obesity reflect the increasing risk of metabolic, cardiovascular, and other complications of obesi
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13

Sullivan, Maria A., and Frances R. Levin. Introduction. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199392063.003.0001.

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Alcohol and substance-use disorders in late life have been under-studied. Alcohol and prescription drugs are frequently abused by older Americans, yet addictive disorders are often difficult to identify in this population because of screening instruments adapted to younger adults, stigma and shame that limit help-seeking in older adults, and co-occurring medical and psychiatric conditions that mimic or mask both acute effects and withdrawal syndromes associated with alcohol or substance-use disorders. We will review the evidence for the effectiveness of motivational brief interventions in this
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14

Khamashta, Munther A., Graham R. V. Hughes, and Guillermo Ruiz-Irastorza. Anti-phospholipid antibody syndrome. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0120.

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The anti-phospholipid syndrome (APS) described almost 30 years ago, is now recognized as a major cause of deep vein thrombosis, stroke, and heart attacks in young people (<45 years of age). It is also the commonest treatable cause of recurrent miscarriages and a major cause of late fetal death. Other clinical manifestations are cardiac valvular disease, livedo reticularis, renal thrombotic microangiopathy, thrombocytopenia, haemolytic anaemia, epilepsy, and cognitive impairment. The presence of anti-phospholipid antibodies (aPL) has been closely related to the development of thrombosis and
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15

Khamashta, Munther A., Graham R. V. Hughes, and Guillermo Ruiz-Irastorza. Anti-phospholipid antibody syndrome. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199642489.003.0120_update_001.

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The anti-phospholipid syndrome (APS) described almost 30 years ago, is now recognized as a major cause of deep vein thrombosis, stroke, and heart attacks in young people (<45 years of age). It is also the commonest treatable cause of recurrent miscarriages and a major cause of late fetal death. Other clinical manifestations are cardiac valvular disease, livedo reticularis, renal thrombotic microangiopathy, thrombocytopenia, haemolytic anaemia, epilepsy, and cognitive impairment. The presence of anti-phospholipid antibodies (aPL) has been closely related to the development of thrombosis and
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16

Lawton, Suzanne C. Asperger Syndrome. Praeger, 2007. http://dx.doi.org/10.5040/9798400615344.

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Asperger Syndrome now affects an estimated 10 million children and adults in the United States. Here, Lawton takes an evenhanded look at AS, its development and symptoms, the biological and potential genetic components, the associated physical complaints, and how natural medicine can help. She includes a history of early treatment and current drug and psychotherapy treatments, and explains how diet, blood sugar, and food sensitivities or allergies can play a role. She also looks at the controversy over vaccinations and explains blood tests that can pinpoint a rationale for herbal and homeopath
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17

McKinlay Gardner, R. J., and David J. Amor. Down Syndrome, Other Full Aneuploidies, Polyploidy, and the Influence of Parental Age. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0013.

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This chapter reviews the archetypical chromosome disorder, namely Down syndrome (DS; trisomy 21), and the various different chromosomal forms that may be the basis of it: standard trisomy 21, translocation trisomy, both de novo and inherited, and other rare forms. The concept of dosage imbalance as the basis of the pathogenesis is reviewed, and the “DS critical region” on chromosome 21 is examined. Reproductive risks associated with each of these DS types are discussed. The chapter considers the other full autosomal trisomies, T13 and T18, and also (mosaic) T9. Triploidy, as the basis of hydat
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18

Firth, Helen V., and Jane A. Hurst. Pregnancy and fertility. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199557509.003.0006.

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This chapter describes various genetic disorders that can present in pregnancy. It discusses, among others: anterior abdominal wall defects, bowed limbs, club-foot, congenital diaphragmatic hernia, cytomegalovirus, Dandy–Walker malformation, the effects of drugs in pregnancies, fetal alcohol syndrome, fetal anticonvulsant syndrome, hyperechogenic bowel, hypoplastic left heart syndrome, low maternal serum oestriol, and the risks associated with advanced maternal and paternal age, together with many other conditions. For each of these, it gives a suggested approach to the clinical assessment, ge
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19

Harbison, Joe. Sleep in older people. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199689644.003.0011.

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Key points• Sleep structure and pattern change with age, sleep typically becoming lighter and more fragmented.• While sleep disorders may not be independently associated with age, they occur more commonly in older people due to co-morbidity.• Common ‘minor’ medical conditions may seriously impair sleep quality.• Neurological conditions such as stroke, Parkinson’s, and dementia are often associated with sleep disorders which can be difficult to treat.• Circadian rhythm disorders are common in older people; primary insomnia is rare.• Respiratory sleep disorders are also common but their signific
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20

Grau, Josep M., and Esteban Poch. Pathophysiology and management of rhabdomyolysis. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199600830.003.0355.

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Rhabdomyolysis is a potentially life-threatening syndrome characterized by the breakdown of skeletal muscle. It is associated with myalgia, muscle tenderness, swelling, and/or stiffness, accompanied by weakness and raised levels of creatine kinase (CK), myoglobin, phosphate and potassium, sometimes with acute kidney injury (AKI). There are multiple causes of this syndrome, traumatisms and myotoxic effect of drugs being the most frequent in developed countries. The pathophysiology involves direct trauma, as well as energy (ATP) depletion with disruption of sarcolemma integrity and muscle destru
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21

Matsumoto, Tamaki, Hiroyuki Asakura, and Tatsuya Hayashi. Premenstrual disorders: luteal phase recurrent enigmatic conditions. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198749547.003.0007.

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Up to 90% of women of childbearing-age experience at least some degree of a regular recurrence of various physical and mental symptoms during the days prior to menstruation, which usually subside following menstruation. The cluster of symptoms can alter behaviour and well-being and affect family, friends, and relationships at work. Despite its prevalence, however, research has not yet demystified this enigmatic condition, commonly known as premenstrual syndrome (PMS) and premenstrual dysphoric disorder (PMDD)—severe PMS. Chapter 7 presents an exhaustive review that discusses the definition, di
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22

de Bie, Robertus M. A. “He Wants It All the Time, Doctor”. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190607555.003.0002.

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Impulse-control disorders are an increasingly recognized complication of dopaminergic therapy in Parkinson’s disease, being present in approximately 15% of patients treated with dopamine agonists but also observed in patients treated with levodopa (referred to as “dopamine dysregulation syndrome”). Impulse-control disorders include pathological gambling, hypersexuality, compulsive shopping, and compulsive eating. Factors associated with a higher risk for impulse-control disorders are a young age at disease onset, a history of addictive behavior before the disease started, a family history of a
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23

Prendes-Alvarez, Stefania, Alan F. Schatzberg, and Charles B. Nemeroff. Pharmacological Treatments for Unipolar Depression. Oxford University Press, 2015. http://dx.doi.org/10.1093/med:psych/9780199342211.003.0011.

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Major depressive disorder is a chronic syndrome associated with high mortality (secondary to suicide and increased risk for heart disease, stroke, and other serious diseases). It is one of the most common medical disorders affecting adults in the world today. In the United States, the lifetime prevalence of major depression is 16.7% for adults. The average age of onset is 32 years, and women are 70% more likely to develop depression than men. Neither the core requisite symptoms for the diagnosis of a major depressive episode nor the required duration of at least 2 weeks has changed from DSM-IV
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24

Anderson, John A., Pierre-Antoine Laloë, and Derek J. Tuffnell. Hypertension in pregnancy. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198713333.003.0036.

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The hypertensive disorders of pregnancy encompass a spectrum of disease, including gestational hypertension, haemolysis, elevated liver enzymes, and low platelets (HELLP syndrome), and acute fatty liver of pregnancy through to pre-eclampsia and eclampsia. These conditions can pose significant problems for clinicians and are associated with significant morbidity and mortality for both mother and baby. Pre-eclampsia and eclampsia remain one of the leading causes of maternal death worldwide. The majority of fatalities occur in settings with low healthcare resources. In the developed world, improv
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25

Turner, Neil. Postural proteinuria (benign orthostatic proteinuria). Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0051.

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Postural proteinuria, synonymous with the condition known as benign orthostatic proteinuria, describes increased levels of protein excretion associated with normalization first thing in the morning. It is usually diagnosed in children, for whom it is the most common explanation for proteinuria picked up incidentally on dipstick testing. In children, it generally resolves with age and is thought to have a benign long-term prognosis, with the caveat that numbers with very long follow-up times are few. It is also seen in teenagers but becomes much less common in early adulthood. Its aetiology is
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26

Baildam, Eileen. Juvenile idiopathic arthritis. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0116.

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Juvenile idiopathic arthritis (JIA) is defined as arthritis lasting for 6 weeks or more presenting in childhood at any age up to 17 years. Arthritis is diagnosed clinically by the presence of joint pain, stiffness, and swelling with inflammation limiting the range of individual joint movement. There are subtypes that tend to follow distinct courses and with phenotypes that vary widely from a serious systemic inflammatory disorder of systemic JIA to single-joint monoarthritis. The differential diagnosis of JIA is wide and the best chance of long-term remission is where treatment is started as e
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27

Whitworth, Caroline, and Stewart Fleming. Malignant hypertension. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0216.

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Malignant hypertension (MH) is recognized clinically by elevated blood pressure together with retinal haemorrhages or exudates with or without papilloedema (grades III or IV hypertensive retinopathy); and may constitute a hypertensive emergency or crisis when complicated by evidence of end-organ damage including microangiopathic haemolysis, encephalopathy, left ventricular failure, and renal failure. Though reversible, it remains a significant cause of end-stage renal failure, and of cardiovascular and cerebrovascular morbidity and mortality in developing countries.MH can complicate pre-existi
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28

Gnudi, Luigi, Giorgio Gentile, and Piero Ruggenenti. The patient with diabetes mellitus. Edited by Giuseppe Remuzzi. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0149_update_001.

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About one third of patients with type 1 diabetes develop diabetic nephropathy long-term (usually not before at least 10 years of diabetes), though this proportion is falling as standards of care have risen. Nephropathy is strongly associated with other microvascular complications of diabetes, so that some degree of retinopathy is to be expected, and evidence of neuropathy is common. Patients with type 2 diabetes are equally susceptible, but this is an older group in which vascular disease and other pathologies are also more likely. The rise in type 2 diabetes accounts for diabetes being the mo
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29

Morley, Peter Thomas. Pathophysiology and causes of cardiac arrest. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199600830.003.0061.

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Sudden cardiopulmonary arrest (CPA) is still the commonest cause of death globally. CPAs are usually categorized according to where they occur, with out-of-hospital arrests accounting for approximately 75% of CPA deaths and in-hospital the remaining 25%. The arrests are also sub-categorized according to the initial rhythm, with the best outcomes associated with shockable rhythms. Large registries have demonstrated a variable incidence of out-of-hospital CPAs in adults (50–150/100,000 person years), with a range of outcomes (3–16% survival to hospital discharge). The majority of CPAs in adults
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30

Plebani, Mario, Monica Maria Mion, and Martina Zaninotto. Biomarkers of renal and hepatic failure. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199687039.003.0039.

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In the last few years, major advances have been achieved in the understanding of the molecular and pathophysiological mechanisms which underlie the complex interactions between the heart and the kidney, as well as between the heart and the liver. According to these new insights, new biomarkers have been proposed for better evaluating and monitoring patients affected by cardiovascular diseases. In addition, some biomarkers should be used as risk factors and for an early identification and treatment of these severe diseases. This chapter reviews the most important biomarkers for evaluating the ‘
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