bluuebunny/crossref_metadata_2025 huggingface dataset:
Trauma
Authors: Baldwin Andrew , Hjelde Nina , Goumalatsou Charlotte , Myers Gil
Published: September 2016

This chapter discusses trauma. It includes description of x-rays, assessment of need for an x-ray and CT, fractures, fracture reduction and traction, complications from fractures, eponyms in fractures, trauma to the arm, shoulder, elbow, forearm, and wrist, hand infection, injury and fractures, hip and femur fractures, lower leg, ankle and foot injuries, face and neck injuries, interpretation of facial x-rays, chronic regional pain syndrome (CRPS), testing peripheral nerve function, dematomes and peripheral nerves, nerve and artery injuries, nerve compression and injuries of overuse, brachial plexus injuries, and spinal cord injuries.
Implementing an antimicrobial stewardship programme
Authors: Doyle Patrick
Published: September 2016

Implementing an antimicrobial stewardship programme in an institution can be challenging. This chapter describes the process of the implementation of the programme—planning, doing, studying, acting. Planning involves understanding the institution’s environment, developing a case and gaining clinical and management support, creating a governance framework, and assembling the the right team. The nature and composition of the antimicrobial stewardship team is explored in detail. Doings means getting started—the importance of ‘quick wins’ that can be achieved to ensure acceptance and the importance of communication and a vision are covered. Studying means measuring and assessing the impact of the programme. Acting involves modifying and expanding the programme. Obstacles to successful implementation are discussed. Finally the chapter touches on the importance of entrenching the gains of the programme.
Managing antimicrobials on the shop floor
Authors: Scobie Antonia , Gilchrist Mark , Whitney Laura , Laundy Matthew
Published: September 2016

Reducing antimicrobial usage is key to stewardship, reducing adverse effects, and potentially stemming the tide of resistance. Establishment of an antimicrobial team on the shop floor to develop and manage a practical programme is discussed. Suggested methods of reducing antimicrobial usage include preventing initiation of unnecessary antimicrobials by the use of evidence-based guidelines and biomarker-directed clinical pathways, restricting durations to the shortest effective course—with automatic stop orders and separate antibiotic prescription charts, parenteral to oral switch programmes and utilization of outpatient parenteral antimicrobial therapy services when available. Finally, cessation of inappropriate treatment and reducing the use of broad-spectrum antimicrobials are essential and can be achieved by restrictive strategies such as pre-authorization and persuasive strategies such as audit and feedback via stewardship ward rounds. Different approaches to implementing audit and feedback within hospitals are covered in detail in this chapter.
Measuring antibiotic consumption and outcomes
Authors: Wickens Hayley
Published: September 2016

Understanding how antimicrobial usage is monitored and reported is crucial when reading the literature on antimicrobial stewardship and assessing outcomes of local programmes. This chapter covers the methods used to monitor antimicrobial usage and the associated terminology, such as defined daily dose (DDD), average daily quantities (ADQs), and days of therapy (DOT), and gives and overview of usage monitoring in primary and secondary healthcare in the UK and beyond. This chapter also covers potential roles for electronic prescribing and information management systems in the monitoring of antimicrobial usage, and highlights some issues in the monitoring process and the outcome of antimicrobial stewardship initiatives.
Measuring and feeding back stewardship
Authors: Sneddon Jacqueline , Malcolm William
Published: September 2016

An essential part of any antimicrobial stewardship programme is the measurement of its impact with regard to intended and unintended outcomes. Measurement requires the utilization of data from electronic data capture systems or through manual collection of data from patient records and ideally a combination of process, outcome, and balancing measures should be used to provide a holistic picture of stewardship practice. Data relating to stewardship activities may be used for scrutiny, for example achievement of targets, or may be for quality improvement to drive up standards. Whatever the purpose, feedback of data to clinical teams and managers is essential and may utilize various methods tailored to the target audience. Measurement of stewardship is evolving and there is interest in defining standard metrics for comparison across regions as well as within and between countries. This chapter provides an insight into current methodology with some examples from practice in the UK and Europe.
The role of the microbiology laboratory in antimicrobial stewardship
Authors: Riley Peter
Published: September 2016

Microbiology laboratories play an important role in antimicrobial stewardship at the level of individual patients and the population as a whole. When empiric therapy has been started, rapid results can lead to earlier targeted treatment. Accumulated results of susceptibility tests can be analysed and used to generate local or national guidelines on empiric treatment and prophylaxis. Several methods can be used to determine microbial identity and antimicrobial susceptibility, including traditional culture-based methods and newer molecular methods such as matrix-assisted laser desorption ionization time-of-flight (MALDI-TOF) mass spectrometry, polymerase chain reaction (PCR), and whole-genome sequencing. These methods and potential advantages are reviewed. Before results are reported, expert rules are applied and results edited. At this point the laboratory can influence prescribing practices.
Antimicrobial stewardship in the immunocompromised patient
Authors: Lyster Haifa
Published: September 2016

Immunocompromised patients are at a high risk of infection with resistant organisms due to their increased exposure to hospital environments, including the intensive care unit, their frequent need for invasive procedures, and increased antimicrobial use. To limit this growing trend, and due to the paucity of development of new antimicrobial agents with novel mechanisms of action, the judicious use of the agents currently available should be encouraged. A broad spectrum of possible infections combined with the diagnostic uncertainty, clinical condition, and the specialist teams’ perceptions make antimicrobial stewardship very difficult. However, evidence presented in this chapter illustrates how stewardship in the immunocompromised host may be achieved.
Surgical prophylaxis
Authors: Oswald Tamsin , Jameson Simon , Reed Mike
Published: September 2016

Surgical antibiotic prophylaxis remains a challenge, with a reported 30% of prescribing for this indication being inappropriate. The process of providing prophylaxis is a complex one—giving therapy only when indicated and using the right drug at the right dose at the right time and for the right duration (usually a single dose)—thus it is difficult to optimise. Additional challenges in this area include: lack of awareness of the impact of overuse of antimicrobials, anxiety about post-operative infections, suboptimal monitoring of infection rates, and the lack of an evidence base for prophylaxis in many procedures. This chapter discusses optimization of surgical prophylaxis and provides examples of successful quality improvement programmes that have overcome the challenges mentioned.
Antimicrobial stewardship in paediatrics
Authors: Patel Sanjay , Bielicki Julia
Published: September 2016

The general principles of antimicrobial stewardship can be applied to the paediatric population, but children have unique challenges that must be addressed when considering a paediatric antimicrobial stewardship programme, including the aetiology of paediatric infections, the non-specific nature of these infections, the difficulty in obtaining microbiology specimens, and paucity of data on antimicrobial dose and duration. Different antimicrobial stewardship strategies tailored to neonates and children are required in primary care and secondary/tertiary care settings. While children with complex infections are generally managed in hospital settings where prescribing can be closely monitored by antimicrobial stewardship teams, the majority of paediatric antimicrobial prescribing occurs in primary care. Promoting and monitoring the judicious use of antimicrobials in this setting is especially challenging.
Antifungal stewardship
Authors: Whitney Laura , Bicanic Tihana
Published: September 2016

Although the principles of antifungal stewardship are similar to those of antibiotic stewardship, there are a number of key differences, as outlined in this chapter. Antifungal prescribing occupies a specialist niche: it occurs much less frequently than antibacterial prescribing due to the smaller, but increasing, population at risk of fungal infection. Antifungal stewardship is thus less established compared with programmes directed at antibacterials, with a narrower and more complex evidence base. This chapter provides examples of successful stewardship programmes in different settings, allowing readers to understand the challenges of antifungal stewardship and how to address these and enabling them to build a successful stewardship programme at their own institution.
Presentation and early clinical course
Authors: Levy David
Published: September 2016

The clinical importance of taking care with diagnostic terms for Type 1 diabetes and the need to avoid obsolete and confusing names. Clinical features at presentation of Type 1 diabetes, and features that differentiate it from later-onset autoimmune diabetes (LADA). The persistently high rate of presentation in diabetic ketoacidosis and its likely neuropsychiatric consequences. Key features of complex cases of DKA and current management strategies. The controversy over which subcutaneous insulin regimens to use after resolution of DKA. Definitions of and factors associated with partial remission (‘honeymoon’). Establishing good glycaemic control shortly after diagnosis probably preserves C-peptide levels.
Diet and lifestyle
Authors: Levy David
Published: September 2016

Macro- and micronutrient intake in Type 1 patients is outlined, and is similar to that of the general population. Carbohydrate counting programmes (flexible intensive insulin therapy, FIIT, for example DAFNE) is increasingly advocated; mandatory for pump patients, it is not suitable for all patients. The 2015 USA guidelines on diet are reviewed in relation to Type 1 diabetes. There is increasing evidence for the protective effects of regular exercise on microvascular complications, and current evidence on the physiology of different forms of exercise are reviewed. Endurance events should not be discouraged. Cigarette smoking is as frequent in Type 1 patients as in the general population, and increased efforts to encourage smoking cessation are needed. Moderate alcohol intake is probably beneficial, but binge drinking is harmful and prevalent.
Management of microvascular and associated complications
Authors: Levy David
Published: September 2016

While end-stage microvascular complications are now relatively uncommon, the burden of microvascular disease is still heavy. National diabetic retinopathy screening programmes have contributed to reducing advanced retinal disease, as has improved laser technology and vitreoretinal surgery. More recently intravitreal anti-VEGF agents (bevacizumab, ranibizumab, and aflibercept) have been effective in reducing visual loss from macular oedema. Diabetic nephropathy has a variable phenotype, and high rates of natural regression from microalbuminuria to normoalbuminuria mandate careful and regular review with regular urinary albumin-creatinine ratio (ACR) measurements. Up to one-quarter of patients with renal impairment have never had microalbuminuria. Long-term glycaemic control is the most important treatment for early diabetic nephropathy; angiotensin blockade treatment (ACE-inhibitors, angiotensin receptor blockers) are less important. In established diabetic nephropathy, intensive multimodal treatment is needed. Neuropathic complications are usually plantar ulceration, Charcot neuroarthropathy, and autonomic, especially gastroparesis and erectile dysfunction.
Pregnancy planning in Type 1 diabetes
Authors: Dozio Nicoletta
Published: September 2016

Pregnancy outcomes in Type 1 diabetes have progressively improved, but are not yet at background population level. Insulin requirements increase early in pregnancy, followed by a nadir at 16–18 weeks, consistently climbing nearly to delivery. Everyone who sees Type 1 patients of childbearing years should be able to deliver concise and practical advice on pre-pregnancy management, including contraception advice. About one-third of UK pregnancies are unplanned. Even where formal counselling is readily available, most women do not access it. Maternal risks during pregnancy include exacerbation of pre-existing complications, hypoglycaemia, and pre-eclampsia; foetal risks include pregnancy loss, fetal malformation, prematurity, macrosomia, stillbirth, and neonatal death. Ideal preconception A1C is 6 to 7% (42 to 53 mmol/mol). Most insulin preparations are safe during pregnancy. Continuous glucose monitoring and insulin pump therapy are increasingly used, but evidence of definite benefit is awaited. Women are usually highly motivated to optimize glycaemic control during pregnancy.
Psychological problems
Authors: Levy David
Published: September 2016

Psychological disturbances occur throughout Type1 diabetes, from diagnosis to the experience of late tissue complications. Serious life events may precipitate diabetes onset. All parents of newly diagnosed children report stress. Poor glycaemic control is associated with suboptimal school performance, but children do not consider their own quality of life to be poor. Depression during adolescence is no more common than in the background population. Single parenthood and minority ethnicity are associated with worse glycaemic outcomes. Poor glycaemia associated with poor family functioning can be helped by family-based interventions. Eating disorders are not more frequent in diabetes, but disordered eating and insulin omission are prevalent, the last associated with increased mortality. Depression is common, often severe, undiagnosed, and associated with maternal depression. Non-pharmacological treatment is more effective than antidepressants. Diabetic complications increase the risk of depression 2- to 3-fold, and all depressive disorders may increase mortality in people with foot ulceration.
Compulsion in community mental health care: historical developments and current provisions
Authors: Burns Tom
Published: September 2016

Compulsion has been a constant feature of psychiatry throughout its 200-year history and has always generated unease. Since deinstitutionalization a more assertive clinical approach has involved increased informal coercion. Community treatment orders (CTOs) have become a feature of most developed mental health services. Their origins are both political and clinical. This chapter outlines their variation, starting with the shift from the ‘least restrictive’ (preferred by civil rights activists) to ‘preventative’ (preferred by clinicians) approaches. It covers the range of legislations and notes the inexplicable variation in rates of use and the balance between public safety and patient benefit struck in different jurisdictions. It details the clinical characteristics of those subject to them, the range of conditions applied, and the differing approaches to enforcing those conditions. The ethical issues raised by the question of whether or not those on such orders are entitled to enhanced care are explored.
Informal coercion: current evidence
Authors: Yeeles Ksenija
Published: September 2016

This chapter considers non-legislative pressures in mental health community treatment, reviews the current body of evidence, and offers recommendations for future research. It attempts to clarify terminology on treatment pressures including different forms of ‘leverage’ such as housing, financial, criminal justice, childcare leverages, and perceived coercion. Based on a scoping review the chapter portrays current international evidence on prevalence, predictors, and outcomes of informal coercion (for example persuasion, interpersonal leverage, inducement, threats, and force) in both quantitative and qualitative studies with patients, with attention to the issues of the perception of fairness and the effectiveness of treatment, financial incentives to improve adherence, and sources of informal coercion. It also discusses common limitations and recommendations for future research.
Community coercion in mental health: where to for service-user-led research?
Authors: Rose Diana
Published: September 2016

Service-user research is increasingly important in health and social care in some countries but is relatively or completely undeveloped elsewhere. This chapter begins with a brief overview of the development of service-user research in the field of mental health. A definition of what is and isn’t service-user research is provided and common misconceptions challenged; its benefits are described alongside any potential disadvantages. Service-user research in mental health care is outlined and the evidence in relation to coercion in psychiatry reviewed. Much of the evidence relates to experience of institutional environments but has clear relevance for community service providers and recipients too. The small body of evidence relating to community coercion is reviewed in detail. The current state of evidence and ongoing research in this field is summarized and the ways in which service-user research can be developed in the future are discussed.
Psychiatric coercion: some sociological perspectives
Authors: Pilgrim David
Published: September 2016

The way in which mental illness is conceptualized varies significantly across cultures. This chapter will discuss how mental illness is understood in different cultural contexts, focusing on local perspectives of the need for coercive interactions with the person who is identified as ill. It will also consider how such coercion takes place. Despite local variation, many coercive practices (at least those occurring in health-care systems) will take place within the context of a legal framework. Because of this, developments in mental health laws will be described in broad terms, considering both the evolution of such legislation and its application. This chapter will focus both on health-care services and on the many coercive practices that are deemed socially legitimate that occur outside the remit of services and legal regimes. The latter may indeed be where coercive practices vary the most.
The ethics of coercion in community mental health care
Authors: Gergel Tania , Szmukler George
Published: September 2016

The specific context of community mental health care affects the debate surrounding coercion in psychiatry, not by raising radically new questions but by highlighting the complexity of this debate and some of the associated ethical difficulties. This chapter begins by looking at the varying conventional justifications for involuntary treatment and then considers the different mechanisms through which such ‘coercion’ is enforced within the community—from formal compulsion via community treatment orders (CTOs) through to ‘softer’ pressures, such as ‘persuasion’ or ‘interpersonal leverage’. Some commonly accepted ideas surrounding interventions such as ‘incentives’ and ‘threats’ are challenged. The chapter concludes with some broad suggestions as to a how a reformulated ‘decision-making capability and best interests’ approach may be one way to increase the ethical viability of community coercion.
Coercion and mental health services in the Indian subcontinent and the Middle East
Authors: Raveesh B. N. , Singh Swaran P. , Pathare Soumitra
Published: September 2016

Mental health law in the Indian subcontinent and the Middle East has been evolving over the past few decades. There have been rapid socio-economic, cultural, and psychosocial changes in the traditional, rural and family-centred societies. People with mental disorders are amongst the most vulnerable in these societies but there is meagre literature on the issue about coercion, coercive practice, standard measures on coercion, and restraint in this region. There are problems of limited resources and training and inadequate service provision. Anecdotal evidence suggests that coercion, is common, both in mental health facilities and in the community. This chapter reviews the provision of mental health care in the region, with relevant legislative developments, and the limited research data on coercion.
Southeast Asia
Authors: Wu Hui Ching , Chou Frank Huang-Chih , Ali Mariam , Molodynski Andrew
Published: September 2016

This chapter introduces the politics, geography, economic status, and religious variation in Southeast Asian countries including Taiwan, China, Japan, and Indonesia. The themes explored in this chapter are: (1) the coercive treatment used in the hospital and community mental healthcare systems across these countries; (2) the evaluation of health-care legislation and Mental Health Act amendments; (3) the distribution of mental health and social services resources in the community; and (4) the struggle between paternalism and autonomy in Eastern social contexts. Finally, there is a discussion of the roles of health policy makers and government in mental health legislation and the balance between protecting public safety and respecting the best interests of individuals.
Coercion in community mental health care: African perspectives
Authors: Alem Atalay , Manning Catherine
Published: September 2016

Mental health care on the African continent is plagued by a number of difficulties that range from a scarcity of resources to the stigma about and misunderstanding of mental illness itself. This chapter focuses on community psychiatry in Sub-Saharan Africa in particular and considers diverse issues such as economic shortages, stigma, faith healing, and the role of the family. It is the first time that such issues have been published in such a way, collating information from a variety of countries in the region. The authors have searched for all the available literature and assimilated it into a coherent narrative of ‘where we are’ with coercion in community psychiatry in Africa.
Regional themes
Authors: Molodynski Andrew
Published: September 2016

This chapter draws together the chapters that gave an overview of regional research and practice around the world. It teases out common themes from the different continents. There are vast social and economic differences between these regions and between the health and social care systems of the different countries. There are several common themes, however: the economy and its crucial importance in making health care available and the increasingly wide-ranging legislation but poor ‘real life’ adoption of international conventions and safeguards. There are also causes for optimism, as in the description of the situation in Indonesia following the tsunami and the crucial work on health-care availability, rights, and stigma reduction.
Conclusions
Authors: Molodynski Andrew , Burns Tom , Rugkåsa Jorun
Published: September 2016

This concluding chapter draws together the volume and combines theory and practice to provide an overview of the issue of community coercion in its widest sense. It confronts the enormous global variation in these issues, from ‘overly restrictive’ legislation in high-income countries to the absolute or relative lack of available care in low-income countries, particularly those in Africa and Asia. The overlapping and contrasting roles of the state, families, clinicians, and other involved agencies are considered. Finally the chapter identifies key themes in these practices and recent developments. It outlines ways forward to understand and measure coercion better and to reduce the need for it in community mental health care.
Ethical Issues in the Care of Adolescents
Authors: Fleischman Alan R.
Published: September 2016

This chapter describes the dramatic physical and emotional changes that occur during adolescence. It examines the concept of evolving autonomy as young teens begin to develop the capacity to participate fully in decision-making for their care. Ethical issues concerning the relationship of an adolescent patient and his or her parents, including confidentiality and truth telling are discussed. The chapter focuses on empowering adolescents to take responsibility for their health and their healthcare. Ethical concerns for the adolescent with no family, the homosexual and transgender adolescent, and the adolescent with mental health, behavior problems, and eating disorders are all examined.The role and limits of patient confidentiality are discussed, particularly in terms of patient self-harm.
Ethical Issues in Medical and Surgical Enhancement
Authors: Fleischman Alan R.
Published: September 2016

This chapter describes the concept of enhancement of children as contrasted to treatment of a child’s disease or disorder to restore health and normal functionality. Using examples—including treatment of idiopathic short stature with growth hormone, growth attenuation in a profoundly developmentally disabled child, the use of psychotropic drugs to enhance performance, and embryo selection for desired traits—ethical issues are raised and examined to address the controversial area of parental requests for and physician obligations concerning providing treatments that go beyond restoring children to “normal,”,but rather are intended to produce children who have greater capacity than their inherent potential. The problems connected with this field will have increasing implications in the future as medicine becomes capable of doing more and more.
Cannabis, Nicotine, and Stimulant Abuse in Older Adults
Authors: Brezing Christina A. , Levin Frances R.
Published: September 2016

In conjunction with alcohol, cannabis, nicotine, and stimulants are the substances most commonly used by older adults. Little is known about the specific characteristics of older adults who use these substances and how best to screen, identify, and treat these disorders in this population. As we reach the population peak for aging baby boomers, increasing percentages of older adults are using these substances, and developing substance-use disorders is anticipated. Concomitant factors are policy and social changes toward drugs of abuse in the United States. Evidence presented in this chapter represents what is currently known about cannabis, nicotine, and stimulant use and its impact on older adults. However, the use of these substances in older adults is under-studied, and much of the current information is extrapolated from studies of younger and middle-aged adults. This practice represents a large gap in our understanding and a significant opportunity for future research endeavors.
Treatment Options for Older Adults with Substance-Use Disorders
Authors: Cohen Stacy A. , Haglund Margaret M. , Mooney Larissa J.
Published: September 2016

Due to co-occurring medical disorders, psychosocial differences, functional and cognitive limitations related to aging, and the potential for multiple medication interactions, unique considerations must be made when addressing the diagnosis and treatment of SUDs among the elderly. Better information is needed on all fronts, from initial screening and assessment, to triaging to appropriate levels of care, to behavioral therapies and pharmacological treatment. Guidelines should help direct providers, families, and patients identify appropriate and individualized treatment programs. Encouragingly, outcomes appear to be as good, if not better, in the older population than in younger adults treated for SUDs. As the “baby boomer” population ages, more older adults will need treatment for illicit drug use, alcoholism, and the misuse of prescription medications. Greater education and awareness of this growing problem will increase attention paid by clinicians and policymakers allocating resources to address the treatment of SUDs in the older population.
Technology-Based Interventions for Late-Life Addiction
Authors: Alagoz Esra , Johnson Kim , Quanbeck Andrew , Gustafson David
Published: September 2016

Late-life addiction has been a neglected topic in the field of substance-use disorders research. Research suggests that with the aging baby-boomer generation, decline in fertility rates, and increases in life expectancy, there will be an increasing demand on the substance-abuse treatment systems designed specifically for individuals aged 65 and older in the next decade. Emerging technologies such as electronic health records, dashboards, communication tools, and new-generation monitoring devices offer significant opportunities to advance the treatment and recovery management of substance use disorders. This chapter explains the emerging technologies that are being used in addiction treatment and proposes guidelines for how these systems can be adopted for older adults by drawing on experiences from ElderTree, an interactive health technology designed for older populations.
Endocrinology and metabolic disorders
Authors: Shotliffe Dr Kevin , Fountain Dr Annabel , Jones Dr Mike , Gray Dr Jennifer , Leach Dr Richard , Leach Dr Richard , Morton Mr Neil , Toft Dr Anthony , Bevan Professor John S , Vaughan Dr Louella
Published: September 2016

Chapter 10 covers endocrinology and metabolic disorders, including diabetes and diabetic coma, abnormalities of sodium and potassium, calcium, magnesium, and phosphate, metabolism, acid-base balance, thyroid emergencies, pituitary emergencies, adrenal emergencies, and toxin-induced hyperthermic syndromes.
Anticoagulation and transfusion
Authors: Matthey Dr Francis
Published: September 2016

Chapter 12 covers anticoagulation and transfusion as they present in the acutely unwell patient, and includes information about the coagulation cascade and coagulation tests, hypercoagulable disorders, anticoagulation, factors contributing to coagulation failure and DIC, blood and blood components, bleeding disorders, and transfusion and management of bleeding.
Immunocompromised patients, including HIV-positive patients
Authors: Bhagani Dr Sanjay , Easom Dr Nicholas , Bhagani Dr Sanjay , Easom Dr Nicholas , Easom Dr Nicholas
Published: September 2016

Chapter 13 discusses immunocompromised patients, including HIV-positive patients, HIV and other causes of immunodeficiency, infections in the HIV-infected patient, post-exposure prophylaxis (PEP) for prevention of HIV infection, non-HIV causes of immunodeficiency, secondary immunodeficiency in malignancy or post-chemotherapy, immune dysfunction and systemic illness, solid organ transplant, and immunosuppressive therapy.
Psychiatric diseases and emergencies
Authors: Hodgkiss Dr Andrew , Leach Dr Richard , Ranjith Dr Gopinath
Published: September 2016

Chapter 14 covers psychiatric diseases and emergencies, including acute psychiatric emergencies, legal issues in acute psychiatry, and acute clinical psychiatric problems.
Rheumatology
Authors: Callan Professor Margaret , Wijeyekoon Dr Jananath Bhathiya
Published: September 2016

Chapter 16 discusses rheumatological conditions as regards the acutely unwell patient, and covers arthritis, connective tissue disease, and vasculitis.
Dermatological diseases and emergencies
Authors: Bunker Professor Christopher , Chandrakumar Dr Arani
Published: September 2016

Chapter 17 covers dermatological diseases and emergencies including a general introduction to the subject, followed by information on erythroderma, drug eruptions, angio-oedema, Kawasaki disease, staphylococcal toxic shock syndrome, Streptococcal toxic shock syndrome (streptococcal TSS), staphylococcal scalded skin syndrome, necrotizing fasciitis, psoriasis, eczema and dermatitis, cutaneous vasculitis, immunobullous disorders, pyoderma gangrenosum, scarring alopecia, herpes simplex viruses 1 and 2, varicella zoster virus infection, bacterial infections affecting the skin, fungal infections affecting the skin, ectoparasitic disease, HIV infection and the skin, malignant melanoma, non-melanoma skin cancer, and cutaneous T cell lymphoma.
Practical procedures and monitoring
Authors: Leach Dr Richard , Moore Professor Kevin
Published: September 2016

Chapter 19 covers practical procedures and monitoring of patients presenting with vascular and haemodynamic, respiratory, gastrointestinal, and other conditions, as well as additional various practical procedures.
Fluid management and nutrition
Authors: Leach Dr Richard , Bell Professor Derek
Published: September 2016

Chapter 2 covers fluid management and nutrition, including information about assessment of the circulation, fluid management, shock states, SIRS, sepsis, severe sepsis, septic shock, vasopressor and inotropic therapy, and nutrition.
Emergencies in the elderly
Authors: Elder Dr Andrew , Bovill Dr Iñaki , Cooper Dr Nicola , Crosswaite Dr Alastair
Published: September 2016

Chapter 20 covers emergencies in the elderly, including delirium, incontinence, falls and syncope, and multi-professional teamwork and assessment of complex needs.
Drug overdoses
Authors: Moore Professor Kevin
Published: September 2016

Chapter 9 covers drug overdoses, including information about the general approach to overdose, and the drugs that may be involved in presenting overdose patients.
Good defiance and flourishing
Authors: Potter Nancy Nyquist
Published: September 2016

This chapter examines the relationship between defiance and flourishing by analyzing three cases and unpacking some of the epistemic and ontological assumptions that undergird our naïve ideas about flourishing. The aim is to clarify under what conditions a person with a mental disorder might be able to flourish, what a claim of flourishing entails, and why some defiant behavior is central to this theory of flourishing—it counts as good defiance. It argues against Aristotle’s account of human virtue as a function of excellent reasoning and against positive psychology’s conception of mental health as well-being and flourishing. Instead, it identifies features of non-ideal flourishing that are then applied to three people with diagnoses: one with schizophrenia, one with depression, and one with Borderline Personality Disorder. The author then explains how she would evaluate these three cases in terms of their defiant behavior.
Bad and good defiance: Practical reasoning as guide
Authors: Potter Nancy Nyquist
Published: September 2016

This chapter argues that, in order to distinguish between good and bad defiance, it is inadequate merely to rely on legal or clinical definitions of vice and disorder. Instead, a realistic account of some of the features of phronesis (practical reasoning) is needed. The question examined in this chapter is what qualities or characteristics would make defiant behavior wrong and why. The author claims that sometimes defiant behavior should be seen as virtuous. In order to show that this is not the case, the author begins with a discussion of the features of Antisocial Personality Disorder (ASPD). By examining what harms are relevant to vicious (bad) defiance and why antisocial behavior shows flawed reasoning, the author enriches her theory of defiance as a virtue, identifies constraints on what can count as virtuous defiance in a person with a mental disorder, and indicates what defiance as a virtue would look like by examining the case of Henry, a person diagnosed with schizophrenia.
Glycogen Storage Disorders
Authors: Cassiman David , Laforêt Pascal , Mochel Fanny
Published: September 2016

Glucose is the body’s major energy source, and carbohydrate serves as fuel—particularly during high-intensity exercise that requires rapid energy release. A deficiency of any of the enzymes involved in the catabolism of glycogen to glucose may cause symptoms, with hypoglycemia and exercise intolerance as the most common presentations. Glycogen storage disorders (GSD) affect muscle, liver, and brain. The most common GSDs affecting muscle are GSD II (Pompe disease) and GSD V (McArdle disease). GSDs affecting mainly the liver are GSD I, III, IV, VI, IX, XI. Most liver-GSDs present during infancy, with symptoms of hypoglycemia, impressive hepatomegaly, and retarded growth. Adult presentations have been reported for GSD Ia, III, IV, and IX.

Adult polyglucosan body disease (APBD) is the main GSD affecting primarily the brain and mainly characterized by spastic paraplegia, axonal neuropathy and leukodystrophy. APBD is a subtype of GSD IV and is due to a deficiency of glycogen branching enzyme (GBE). Besides GSD IV, other GSDs have been reported to have CNS effects in some patients—notably GSD II and GSD III.
Disorders of Mitochondrial Energy Metabolism
Authors: Rahman Shamima , Janssen Mirian C. H.
Published: September 2016

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.
Disorders of Ketogenesis and Ketolysis
Authors: Morris Andrew A. M.
Published: September 2016

Disorders of ketone body metabolism are characterized by episodes of metabolic decompensation. The initial episode usually occurs in the newborn period or early childhood during an infection with vomiting. The disorders of ketogenesis cause hypoglycemia and encephalopathy. Decompensation leads to severe ketoacidosis in defects of ketone body utilization (including MCT1 transporter deficiency). Treatment aims to prevent the catabolism that leads to decompensation. Prolonged fasting is avoided and glucose is provided, orally or intravenously, during illnesses. The risk of decompensation falls with age, particularly for disorders of ketolysis. There have, however, been some fatal episodes in adults with HMG-CoA lyase deficiency, including during pregnancy.
Disorders of Creatine Metabolism
Authors: Cheillan David , Sedel Frédéric
Published: September 2016

Creatine is a physiological guanidino compound playing a major role in energy metabolism in muscle and implicated in neurotransmission in brain. The three disorders of creatine metabolism (AGAT and GAMT deficiencies and the X-linked creatine transporter defect) are a group of inborn errors of metabolism characterized by a depletion of creatine that could be easily diagnosed by mesasurement of guanidinoacetate and creatine in body fluid or cranial MRS spectroscopy. The main clinical features of these paediatric disorders are intellectual disability and speech delay and some adult patients have been described with severe language impairment and mental retardation. Although the X-linked creatine transporter defect is currently not treatable, the clinical symptoms of the two disorders of creatine synthesis should be improved by creatine supplementation emphasizing the importance of an early diagnostic.
Phenylketonuria and Hyperphenylalaninemia
Authors: van Spronsen Francjan J. , Lachmann Robin H.
Published: September 2016

Phenylketonuria (PKU) is the prototype treatable genetic disorder and most advanced countries have been performing newborn screening for more than 40 years. Institution of a low-protein diet early in life can reduce the concentration of phenylalanine in the blood and the brain, and prevent the severe learning and behavioral difficulties that were historically associated with PKU. Interestingly, as the brain matures it becomes resistant to the toxic effects of phenylalanine. The effects of high phenylalanine levels on the adult brain are a subject of active research, but, unlike the effects on IQ seen in the first decade of life, they appear to be reversible. The most important effect of high phenylalanine levels in adults is teratogenicity, and in many ways the maternal PKU syndrome is a more devastating disease than PKU itself. Fortunately, maternal PKU syndrome is preventable if women with PKU maintain strict control of phenylalanine levels throughout pregnancy.
Tyrosinemia Type I
Authors: Cassiman David , Meersseman Wouter
Published: September 2016

Tyrosinemia type 1 (HT-1) is a rare metabolic disorder affecting degradation pathways of the amino acid tyrosine. HT-1 presents with liver, kidney and/or bone disease and can cause acute porphyria attacks. Biochemical diagnosis is made by measuring raised plasma tyrosine and detection of succinylacetone in urine. Long-term management with diet and nitisinone leads to excellent short term results, but since long term effects are largely unknown, life-long treatment and follow-up for liver malignancy, bone disease and kidney disease seem necessary. HT-1 is treatable by liver transplantation.
Tyrosinemia Type II
Authors: Murphy Elaine
Published: September 2016

Tyrosinemia type II is a rare oculocutaneous disorder that in some individuals is also associated with developmental delay or other neurological problems. Bilateral keratitis and painful hyperkeratotic lesions of the palms and soles are the typical presenting lesions. Diagnosis is suggested by the clinical picture, elevated plasma tyrosine levels, and specific urinary metabolites. It is an autosomal recessive condition caused by mutations in the tyrosine aminotransferase (TAT) gene. Treatment is aimed at reducing plasma tyrosine levels and consists of a low-protein diet with age-appropriate amino acid (phenylalanine-free and tyrosine-free), vitamin, and mineral supplements. Significant maternal hypertyrosinemia is associated with a poor fetal outcome.
Branched Chain Amino Acids
Authors: Prunty Helen , Fraser Jamie L. , Venditti Charles P. , Lachmann Robin H.
Published: September 2016

This chapter describes the four most common disorders affecting the degradation of branched chain amino acids: maple syrup urine disease, methylmalonic acidemia, propionic acidemia and isovaleric acidemia. These conditions most commonly present with encephalopathy in the newborn period, although cases with later onset have also been described. Although adult patients are less prone to acute metabolic decompensations, they do develop a number of long-term complications, both neurological and visceral. Management shares features with other disorders of protein metabolism and centers on a low-protein diet and the use of disease-specific amino acid supplements.
Urea Cycle Disorders
Authors: Kölker Stefan , Häberle Johannes , Walker Valerie
Published: September 2016

The urea cycle is the final pathway for removal of surplus nitrogen from the body, the major route in humans for irreversible detoxification of ammonia and a source of arginine.2,3 Patients with adult-onset urea cycle disorders present with clinical symptoms that have a broad differential diagnosis (e.g., protein aversion, inappetence, cyclic vomiting, epilepsy, psychiatric disease, migraine, liver dysfunction). Unlike infants and children some adult-onset patients may never develop acute hyperammonemic crises. Since symptoms are often fluctuating and the diagnosis can only be made if specific tests are made, the diagnosis is often delayed or missed. Earlier detection and intervention would improve the patients’ outcome, which currently is poor.
Glutaric Aciduria Type I
Authors: Kölker Stefan
Published: September 2016

Glutaric aciduria type I is a rare organic aciduria caused by inherited deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme involved in the final common catabolic pathways of L-lysine, L-hydroxylysine, and L-trytophan. The majority of untreated patients develop striatal injury and secondary dystonia during infancy and childhood, whereas identification by newborn screening and immediate start of metabolic treatment (low-lysine diet, carnitine supplementation, metabolic emergency treatment) helps to prevent severe neurological complications in the majority of patients. The morbidity and mortality of dystonic patients is high, whereas asymptomatic patients have normal life expectancy. Effective antidystonic treatment requires a multidisciplinary approach. In a subgroup of patients, first clinical symptoms (headaches, vertigo, gait disturbance, hand tremor) may not manifest before adulthood. Cranial MRI studies in these patients reveal T2 hyperintensities of supratentorial white matter. A few women with glutaric aciduria type I have had unremarkable pregnancies, deliveries, and postpartal periods.
2-Hydroxyglutaric Acidurias
Authors: Struys Eduard A. , van der Knaap Marjo S. , Salomons Gajja S.
Published: September 2016

The group of congenital diseases related to 2-hydroxyglutaric acid metabolism consists of five disease entities: D-2-hydroxyglutaric aciduria Type I (D2HGA-I), D-2-hydroxyglutaric aciduria Type II (D2HGA-II), metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA), L-2-hydroxyglutaric aciduria (L2HGA), and combined D,L-2-hydroxyglutaric aciduria (DL2HGA). Overall, the clinical presentation varies from early onset with mostly lethal neonatal encephalopathy in DL2HGA to slowly progressive mental and motor delay with white matter abnormalities, with an insidious and sometimes adult clinical presentation in L2HGA. Currently no proven treatment options are available for these diseases, although recently gained novel biochemical and genetic insights open treatment perspectives.
Disorders of Cobalamin and Folate Metabolism
Authors: Fraser Jamie L. , Sedel Frédéric , Vendetti Charles P.
Published: September 2016

Cobalamin C deficiency (cblC) and related disorders of intracellular cobalamin metabolism may present at any time from the prenatal period through adolescence/adulthood and are due to deficiency of the cobalamin cofactors adenosylcobalamin and methylcobalamin. Chronic complications of cblC depend on the age at presentation and may include poor growth, renal dysfunction, neuropsychiatric manifestations, intellectual disability, strokes, progressive leukoencephalopathy and spinal cord degeneration, psychiatric manifestations and executive function deficits, and optic nerve and retinal anomalies. While less common than in isolated MMA, acute metabolic decompensation may occur in cblC patients due to accumulation of methylmalonic acid and associate metabolites and should be managed as in isolated MMA in conjunction with a metabolic consultant. The most common inborn error of folate (vitamin B9) metabolism relevant for adult patients is methylenetetrahydrofolate reductase (MTHFR) deficiency. Manifestations are primarily neurological, but the disorder may present in a substantial number of adults with psychiatric symptoms. Early recognition with adequate treatment is crucial.
Succinic Semialdehyde Dehydrogenase Deficiency
Authors: Gibson K. Michael , Jakobs Cornelis , Pearl Philip L.
Published: September 2016

Succinic semialdehyde dehydrogenase (SSADH) deficiency presents with intellectual disability, disproportionate deficit in expressive language, hypotonia, ataxia, and seizures.1,2 (1 Pearl et al 2011; 2 Vogel et al 2012). A diagnosis of autism spectrum disorder frequently occurs, correlated with neuropsychiatric morbidity (ADHD, OCD, PDD). 1,3 The biochemical hallmark, γ‎-hydroxybutyric acid (GHB), is elevated in physiological fluids, as is γ‎-aminobutyrate (GABA) in cerebrospinal fluid (CSF).4,5 Both species are neuroactive. Clinical manifestations are universally present in early childhood, although diagnosis delayed to adulthood has been reported.6 Acute decompensation or complications relate primarily to seizures, intercurrent illnesses sometimes associated with respiratory dysfunction in the setting of hypotonia, or adverse medication responses. Diagnostic confirmation requires urine organic acid analysis (increased GHB) with confirmation via enzyme assay (white cells) and/or molecular characterization of the aldehyde dehydrogenase 5a1 (ALDH5A1) gene.