bluuebunny/crossref_metadata_2025 huggingface dataset:
Palliative Care in Heart Failure
Authors: Dionne-Odom J. Nicholas , Wells Rachel , Swetz Keith M.
Published: February 2019

Specialty palliative care in advanced heart failure is an emerging area of clinical practice. Nurses play a key role in providing in- and outpatient palliative care for these patients and their families. This chapter provides an overview of advanced heart failure for the palliative care nurse at all levels of practice. Topics discuss underlying pathophysiology and causes of advanced heart failure, clinical manifestations and staging, assessment and diagnostic findings, pharmacologic and nonpharmacologic management, heart failure devices, symptom management, and advance care planning. Many of these topics are summarized in brief, and hence clinicians are encouraged to refer to cited sources for more in-depth discussion that may be appropriate for individual settings and patient populations.
Palliative Care Nursing in the Outpatient Setting
Authors: Davies Pamela Stitzlein , Broglio Kathleen
Published: February 2019

Most healthcare in the United States is provided in ambulatory care clinics. Yet, outside of the arena of oncology, palliative care clinics are rare in the outpatient setting. This is an area of great need, and one that is expected to see significant growth, given the complexities of issues managed by primary clinicians. Palliative care can assist with decisions related to initiating or discontinuing left ventricular assist devices for destination therapy or renal replacement therapy and address the multimorbidity, frailty, and dementia associated with the growing population of elder adults. This chapter addresses the benefits and challenges faced when providing palliative care in the ambulatory care setting. Practical aspects of initiating or expanding an outpatient palliative care program are discussed, as well as unique aspects of providing palliative care to various clinical specialties in the outpatient setting. Additionally, best practices for monitoring opioid and other controlled substances are reviewed, including methods to implement Universal Precautions for screening and monitoring patients receiving these prescriptions.
Palliative Care in the Emergency Department
Authors: Wright Rebecca , Roberts Benjamin
Published: February 2019

The emergency department increasingly serves as a site of care for patients with palliative and end-of-life care needs. While improvements in healthcare treatments have enabled people to live longer with complex comorbidities, community-based care services are not always available, accessible, or equipped to manage growing demand from people experiencing illness deterioration and palliative emergencies or requiring hospice care. Despite significant advances in emergency department–based palliative care in recent years, numerous challenges remain for those working in or connected with the emergency department. In this chapter, the authors demonstrate the need for greater integration and training of palliative care in the emergency department. Barriers, facilitators, and new models of care are presented, supported by a three-part case study demonstrating how and when to integrate palliative care into the emergency department. The chapter concludes by considering the state of the science and next steps needed to improve the quality of emergency department-based palliative care.
Rural Palliative Care
Authors: Taylor Richard A. , Dionne-Odom J. Nicholas , Currie Erin R. , Stockdill Macy , Bakitas Marie A.
Published: February 2019

Access to palliative care remains challenging to those living in rural areas across the globe. This disparity of care leaves many without critically important palliative care services across their illness trajectory, especially in its final stages. Creative strategies to meet the palliative care needs of rural patients such as telehealth, videoconferencing specialists’ consultation, and web-based resources exist. Using these strategies where available can address some palliative care disparities and access to care in rural areas that were previously absent. Developing clinical capacity of rural clinicians through enhanced education in primary palliative care in training programs, expanding services with the use of nurse practitioners, and using palliative care–trained community lay health workers are also strategies to improve access. Additionally, by developing rural hospital providers’ knowledge and skills to provide primary palliative care in tasks such as establishing care goals, communication, and basic symptom control may prevent many transfers to academic centers miles away. Through ongoing education and primary palliative care training and innovations in bringing specialty care to rural areas, “palliative care everywhere” will soon be a reality.
Symptom Management in Pediatric Palliative Care
Authors: Chrastek Joan “Jody” , van Breemen Camara
Published: February 2019

Pediatric symptom management can be complex and challenging, but, when done well, it improves quality of life significantly. Assessment of symptoms should be started at the diagnosis of a life-threatening condition and continued throughout the trajectory of the condition or disease. Treatment methods of each symptom depend on the reversibility of the symptom, disease trajectory, and family goals of care. Both nonpharmacological and pharmacological interventions should be employed. Decisions should be made jointly between the healthcare team and the parents/caregivers. Cultural norms and traditions need to be respected and adhered to when possible. Palliative care should be holistic, addressing not only the physical but also the spiritual, emotional, and social aspects. This chapter provides an overview of managing common symptoms of dyspnea, excessive secretions, nausea/vomiting, constipation, and neurological issues. A list of websites, guidelines, and sample algorithms are included for further information.
Pediatric Goals of Care
Authors: McDaniel Christina , Desai Jordan M.
Published: February 2019

Leading patients and families through the uncertainty of a life-limiting illness is challenging at best. The dynamics that impact these conversations require effective communication, empathy, and active listening. There are many influences on the way a patient and family make decisions about their healthcare. It is crucial to understand the values of the patient and family in order to enable decision-making that centers on what they consider important. Throughout an illness trajectory, clinicians support decision-making through episodes of stability and of instability. The clinician’s recognition of his or her own need for support during these times is essential to ensuring sustainability, as well as to ensure effectiveness in their guidance of the patient and family.
Use of Social Media as a Communication Tool for People with Serious Illness and Their Families
Authors: Hansen Dana , Petrinec Amy , Harb Nidal
Published: February 2019

In today’s modern society, technology impacts our lives on a regular basis, with many of the changes having a beneficial effect. Today, many patients and their families live in a culture of connectivity. One positive aspect of this pervasive connectedness is the heightened ability to communicate with family and friends and connect with others who can offer support. Family interaction at the end of life has many benefits, and social media provides a convenient mechanism to help families connect more easily during this difficult time.
The Advanced Practice Registered Nurse
Authors: Wiencek Clareen , Wolf Alexander
Published: February 2019

The advanced practice registered nurse (APRN) brings a unique and essential perspective to the discipline of palliative care—to focus holistically on the patient and family as the unit of care and to combine advanced skills in assessment, diagnosis, and management. These nurses drive team-based care for optimal patient-level and program-level outcomes. This chapter will present a historical overview of the development, regulation, education, and certification of advanced practice registered nursing in general and include evidence supporting the outcomes of APRNs in palliative care and other specialties. This discussion will be aligned with important developments and standards in the discipline of palliative care in which APRNs practice.
Nursing Education
Authors: Malloy Pam , Davis Andra
Published: February 2019

Educating nursing students, clinicians, faculty, and researchers in palliative care is needed tremendously in this era of an aging population and the development of new technological ways of extending the lives of those with complex illness and/or injury. With new evidence-based resources being developed to enhance education, including guidelines, competencies, videos, standards, and procedures, educators have a plethora of materials to promote and disseminate palliative care education. Nurses, who represent the largest healthcare profession in the nation, can only practice and teach what they know. Because nurses spend more time at the bedside and out in the community consulting and providing care to those who are seriously ill and to their families, it is vital they be educated to provide competent and compassionate care to those who are most vulnerable.
The Unique Experience of Caregivers Based on Their Life Stage and Relationship to the Patient
Authors: Litzelman Kristin
Published: February 2019

Although caregivers are often thought of as middle-aged or older adults, cancer caregiving spans the life course. This chapter discusses the unique challenges of cancer caregiving across the life course—early adulthood (18–44 years of age); middle age (45–64 years); and older age (adults 65 years and older)—using data from the 2015 Behavioral Risk Factor Surveillance System and evidence from the extant literature. More than 4 in 10 cancer caregivers were in early adulthood. Another 4 in 10 were in middle age, and nearly 2 in 10 were in older adulthood. Normative developmental patterns differ at each life stage, with implications for supporting cancer caregivers in clinical and policy settings. Future research embracing a nuanced view of caregiving across the life course and across relationship type will enhance the ability to care for caregivers and improve cancer survivor and caregiver well-being.
Measurement of Caregiver Burden
Authors: Anderson Laurie , Polacek Laura C. , Tanco Kimberson
Published: February 2019

There is growing recognition that the majority of cancer caregivers will experience some element of burden as a result of the demands of caregiving. As such, identifying caregivers at risk for, and experiencing, burden is necessary to identify and implement appropriate support services to address this distress. Multiple instruments have been used to assess various domains of caregiver burden. Many of these were originally developed for caregivers of patients with neurological disorders, though more recent measures have been developed specifically to address the unique experience of burden among caregivers of patients with cancer. This chapter provides an overview of global and domain-specific measures most frequently used to evaluate the multiple dimensions of cancer caregiver burden and highlights tools intended to capture the unique experience of the burden of caregivers of pediatric patients with cancer.
Cognitive Behavioral Therapy for Informal Cancer Caregivers
Authors: Jacobs Jamie M. , Traeger Lara , Walsh Emily A. , Greer Joseph A.
Published: February 2019

As cancer treatment shifts progressively to the outpatient setting, informal caregivers, including family and friends, play an increasingly central role in ensuring optimal ongoing care of these patients. Cancer caregivers may provide a range of emotional, instrumental, and informational support, including handling complex treatment schedules, managing side effects, juggling household chores and transportation, communicating with the healthcare team and friends and family, and coping with the uncertainty of their loved one’s prognosis. Cancer caregivers may become overwhelmed and burdened by these tasks, receiving minimal support and guidance related to managing distress and maintaining their own quality of life while caring for a loved one. Cognitive behavioral therapy is evidence- and skills-based therapy efficacious for patients with cancer in managing anxiety and depression and improving quality of life. This chapter reviews the application of and evidence for cognitive behavioral therapy for addressing psychosocial distress and burden in informal cancer caregivers.
Problem-Solving Interventions
Authors: Nezu Arthur M. , Maguth Nezu Christine , Johnson Lauren B.
Published: February 2019

Interventions based on problem-solving principles have been found to be effective therapies for a variety of clinical disorders and across various age groups. Informal caregivers of patients with cancer, including spouses, partners, family members, and friends, provide essential support and care throughout the cancer experience. Because these caregivers potentially experience significant emotional difficulties, these therapeutic approaches can serve to mitigate such negative consequences. This chapter provides a description of problem-solving therapy interventions for both cancer patients and their caregivers, as well as the underlying rationale for why such approaches are appropriate for these individuals. In addition to providing a brief summary of the relevant research, also included is an overview of specific clinical guidelines.
Family Therapies
Authors: Schuler Tammy A. , Kissane David W. , Zaider Talia I.
Published: February 2019

This chapter illustrates the struggles of family caregivers, explains the complex interactions between cancer and the quality of family relationships, delineates the state of the literature on family interventions and screening, describes the family-focused grief therapy (FFGT) model (a prophylactic family-based intervention that begins during palliative care and continues into bereavement for high-risk families), and integrates empirically supported clinical recommendations for interventions to treat families at high risk for worse psychosocial outcomes. In addition to research findings, we offer anecdotal commentary from our experiences in working with families coping with cancer. Given the high proportion of primary caregivers who are family members, the development and study of FFGT included a large number of caregivers at its foundation. We thus believe FFGT is an appropriate treatment for caregivers who are at risk for worse psychosocial outcomes.
Emotion Regulation Therapy for Cancer Caregivers
Authors: Panjwani Aliza A. , O’Toole Mia S. , Applebaum Allison J. , Fresco David M. , Mennin Douglas S.
Published: February 2019

Although cognitive behavioral therapies (CBTs) have demonstrated efficacy in treating individuals with anxiety and depressive symptoms, recent meta-analytic findings indicate negligible effects of CBTs in treating emotional distress among informal caregivers of patients with cancer. Adapted from emotion regulation therapy (ERT), ERT for cancer caregivers (ERT-C) is a theoretically grounded, evidence-based treatment that incorporates principles from traditional and contemporary CBTs with findings from affective science. ERT-C offers a framework for improving regulatory skills of caregivers who have high psychological distress; engage in perseverative negative thinking (e.g., rumination, worry, self-criticism); and evidence poor behavioral responding (e.g., withdrawal, numbing). Two ERT-C trials (open label and randomized controlled) have demonstrated preliminary support for the utility of ERT-C in treating distress among cancer caregivers. This chapter presents the emotion regulation model associated with ERT-C and describes the treatment components. Case examples are illustrated, allowing readers to gain an applied understanding of the ERT-C protocol.
Meaning-Centered Psychotherapy for Cancer Caregivers
Authors: Applebaum Allison J.
Published: February 2019

Meaning-Centered Psychotherapy for Cancer Caregivers (MCP-C) is a novel therapeutic approach intended to address the existential concerns commonly experienced by caregivers of patients with cancer. Based on an empirically supported intervention that has demonstrated efficacy in improving the quality of life of patients with advanced cancer, breast cancer survivors, and bereaved parents, MCP-C is the first targeted psychotherapy to address the existential needs of caregivers of patients with cancer. Through MCP-C, caregivers come to understand the benefits of connecting with meaning in their lives and how specific sources of meaning may serve as resources, buffer common symptoms of burden, and diminish despair, especially as loved ones transition to end-of-life care. In this chapter, we present an overview of MCP-C sessions and techniques, and illustrate its application through a case example. The adaptation of MCP-C for delivery over the Internet and future directions for implementation and dissemination are also discussed.
The Cancer Support Community
Authors: Buzaglo Joanne S. , Zaleta Alexandra K. , Longacre Margaret L. , Golant Mitch
Published: February 2019

The demands of caregiving are associated with physical, emotional, and practical consequences for cancer patients and caregivers. Guided by a person-centered model of evidence-based support, the Cancer Support Community, an international nonprofit organization, provides patient and caregiver support, education, and programming. This chapter highlights two research initiatives: the Cancer Experience Registry® online research program and CancerSupportSource–Caregiver®, a web-based distress-screening program designed to identify caregiver needs and refer caregivers to tailored support services. In addition, the chapter summarizes the educational and support programs available to caregivers at no cost through the Cancer Support Community. Finally, the chapter includes recommendations for future implementation and dissemination research on the effectiveness of integrated caregiver support with respect to quality and cost-related outcomes.
American Cancer Society’s Delivery of Support to Caregivers in the Community
Authors: Cannady Rachel S. , Sharpe Katherine
Published: February 2019

The American Cancer Society (ACS) is committed to addressing the needs of cancer caregivers. Many caregivers are unexpectedly thrust into their role as a caregiver with little or no preparation. A wide range of support services and caregiver resources is needed to help cancer caregivers. Consistent with the ACS’s mission and goals to measurably improve the quality of life of all cancer survivors and their caregivers from the time of diagnosis through the balance of life, the ACS has developed a program of work to meet the specific needs of family members and friends providing care for those diagnosed. This chapter describes the ACS Caregiver Support Program, including specific initiatives aimed at optimally supporting cancer caregivers across the care trajectory.
Suicide and deliberate self-harm
Authors: Harrison Paul , Cowen Philip , Burns Tom , Fazel Mina
Published: February 2019

‘Suicide and deliberate self-harm’ are important aspects of psychiatry. Suicide is among the 10 leading causes of death in most countries for which information is available and is the second most common cause of death in young people. This chapter outlines the epidemiology and methods employed for suicide, with attention to its variation across different cultures and over time. It presents the schemes for the assessment of suicide and policies for its prevention. Deliberate self-harm overlaps with suicide but is different in several important aspects, which are described, along with the range of strategies for managing deliberate self-harm as experienced in the hospital setting.
General principles of management of patients
Authors: Reynard John , Brewster Simon F , Biers Suzanne , Neal Naomi Laura
Published: February 2019

This chapter details basic principles that underpin management of the surgical, including urological, patient, namely safe communication techniques, correct note-keeping practice, and a brief introduction to concepts of patient safety such as cross-checking.
Significance and preliminary investigation of urological symptoms and signs
Authors: Reynard John , Brewster Simon F , Biers Suzanne , Neal Naomi Laura
Published: February 2019

The significance of urological symptoms and signs (i.e. what underlying conditions cause them), along with the diagnostic approach to managing such presentations, is outlined in this chapter. There have been no changes from previous editions.
Urinary incontinence and female urology
Authors: Reynard John , Brewster Simon F , Biers Suzanne , Neal Naomi Laura
Published: February 2019

All aspects of female and male urinary incontinence assessment, investigation, and management are outlined. Definitions of incontinence are provided, with a review of the epidemiology, risk factors, and management of stress urinary incontinence (SUI), post-prostatectomy (male) incontinence, overactive bladder syndrome (OAB), mixed urinary incontinence, and incontinence in older populations. Conservative, drug, and surgical therapies are explored, including bulking agents, synthetic mid-urethral tapes, colposuspension, autologous fascial slings, and artificial urinary sphincters (AUS) for female SUI, and urethral slings and AUS for male incontinence, and botulinum toxin, ileocystoplasty, and sacral nerve stimulation for OAB. Clear management pathways are included which are supported by the International Continence Society, with guideline recommendations from the National Institute for Health and Care Excellence and European Association of Urology. Vesicovaginal fistula, urethral diverticulum, and pelvic organ prolapse (POP), are illustrated, and controversies including the use of mesh in POP and incontinence surgery, and anticholinergic drug burden in OAB are discussed.
Miscellaneous urological diseases of the kidney
Authors: Reynard John , Brewster Simon F , Biers Suzanne , Neal Naomi Laura
Published: February 2019

This chapter covers miscellaneous diseases of the kidney and outlines their presentation, investigations, and management. This includes renal cysts, calyceal diverticulum, medullary sponge kidney, and cystic disease (acquired renal cystic disease and autosomal dominant polycystic kidney disease, including the aetiology and associated disorders). Adult vesicoureteric reflux and pelviureteric junction obstruction are discussed alongside informative and representative images, together with their management. Embryological abnormalities are covered in detail, including horseshoe kidney, ectopic kidney, renal agenesis, malrotation, and duplication. The investigation and management of each anomaly are included.
Infertility
Authors: Reynard John , Brewster Simon F , Biers Suzanne , Neal Naomi Laura
Published: February 2019

Male factor infertility is outlined in an easily digestible format to provide clear information on this sometimes less familiar topic, starting with the basics of male reproductive physiology, the hypothalamic–pituitary–testicular axis, and spermatogenesis. This chapter includes a review of the aetiologies of abnormal sperm counts (with particular emphasis on azoospermia and oligospermia), relevant clinical assessment, and key male factor infertility investigations such as semen analysis, hormone measurement, karyotying, imaging, and testicular biopsy. The chapter explains the management options for the infertile male and couple, including information on the different assisted reproductive techniques. The chapter covers additional important clinical and exam topics, including varicoceles, indications for repair in males of different ages, red flag signs that should trigger further investigation, and the treatment options of embolization and surgical repair. The fourth edition also includes the addition of new material exploring the pros and cons of vasectomy and vasectomy reversal.
Sexual health
Authors: Reynard John , Brewster Simon F , Biers Suzanne , Neal Naomi Laura
Published: February 2019

This andrology chapter covers the physiology of erection and ejaculation and expands on the evaluation and treatment of erectile dysfunction (ED), including the use of drugs (phosphodiesterase type-5 inhibitors or PDE-5I), intracavernosal injections, and insertion of penile prosthesis. The evaluation and treatment of Peyronie’s disease with Nesbitt or Lue procedure are explained. Ejaculatory dysfunction is covered, including the topics of retrograde, premature, delayed and absent ejaculation, and anorgasmia. The topical subjects of late-onset hypogonadism (LOH) and general male hypogonadism are examined in detail, with a clear description of testosterone replacement therapy. Gonococcal and non-gonococcal urethritis evaluation is laid out with current treatment guidelines.
Urological problems in pregnancy
Authors: Reynard John , Brewster Simon F , Biers Suzanne , Neal Naomi Laura
Published: February 2019

Important physiological changes to the urinary tract during pregnancy are examined, including physiological hydronephrosis of pregnancy and reduction in creatinine levels due to glomerular hyperfiltration. Changes in the anatomy contribute to an increased risk of urinary incontinence and lower urinary tract symptoms. Consequent urinary stasis contributes to a higher risk of urinary tract infection and pyelonephritis, which can contribute to preterm birth, and hence the importance of treating asymptomatic bacteriuria in the pregnant woman. Special attention may be given to the use of antibiotics in the different trimesters of pregnancy, and this is summarized in the chapter. The common diagnostic dilemmas of loin pain and hydronephrosis in pregnancy are debated, and guidance given on evaluation. Other essential urological issues that arise in pregnancy are reviewed, including the management of pregnant patients with previous urinary tract reconstruction, placenta accreta, and the problem of urinary retention after childbirth.
Urological eponyms
Authors: Reynard John , Brewster Simon F , Biers Suzanne , Neal Naomi Laura
Published: February 2019

This chapter explores eponymous terms and conditions in urology and a brief background of the people they are named after.
Conclusion: Pathways to reconciliation
Authors: Rashed Mohammed Abouelleil
Published: February 2019

Chapter 11, “Conclusion: Pathways to reconciliation,” outlines two pathways to reconciliation based on the arguments of the book. The first pathway is for reconciling skeptics and supporters of Mad activism (respectively, those who unconditionally reject and those who unconditionally accept the claims and demands of Mad activism). This is achieved by addressing two key points that divide skeptics and supporters: the first pertains to the possibility for madness to constitute grounds for identity, and the second pertains to the scope of Mad activism. The second pathway is for reconciling madness and society. The chapter summarizes the arguments for the normative force of the demand for recognition of Mad identity, and outlines a framework for responding to this demand.
Prognosis in healthcare
Authors: Croft Peter , Riley Richard D , Moons Karel GM
Published: February 2019

Predicting what might happen in the future to individuals, based on experience and available information, has always been a prominent part of medical practice and healthcare. This chapter describes the history of prognosis in healthcare. Prognosis had a central place in medical practice in times before scientific diagnosis and effective treatments, and predicting the likely course of an individual’s illness from experience and observation was a valued quality. As the science of diagnosis developed, prognosis lost its importance in medical education and practice. With the advent of effective treatments and with rapid acceleration of access to data—from genetics to physiology, psychology to social status—to inform outcome prediction in sick people and guide treatment decisions, prognosis is again at the centre of healthcare. Modern prognosis research provides an evidence base for prediction in practice.
Prognostic factor research
Authors: Riley Richard D , Moons Karel GM , Hayden Jill A , Sauerbrei Willi , Altman Douglas G
Published: February 2019

A prognostic factor is any variable associated with a subsequent outcome such as death or disability among people with a disease or health condition. Prognostic factors range from simple measures, such as age, gender, temperature, or pulse rate, to test results such as X-rays or psychological scores, whilst novel biomarkers and genetic information are increasingly studied. Different values of a prognostic factor are associated with a different prognosis and can be used to stratify overall prognosis estimates. This chapter details the potential use of prognostic factors (including disease definition, identifying new intervention targets, and providing building blocks for prognostic models); the design of exploratory and validation cohort studies to identify prognostic factors; the importance of examining the prognostic value of a new factor over and above existing factors; consideration of time-dependent prognostic effects; and the use of the REMARK reporting guideline.
Predictors of treatment effect
Authors: Riley Richard D , Hingorani Aroon , Moons Karel GM
Published: February 2019

A predictor of treatment effect is any factor or combination of factors (such as a patient characteristic, symptom, sign, test, or biomarker result) associated with the effect (benefit or harm) of a specific treatment in persons with a particular disease or health condition. Various terms are used across disciplines to refer to prediction of treatment effect, including treatment-predictor (treatment-covariate) interaction, effect modification, predictive (as opposed to prognostic) factors (in oncology), or moderation analysis. This chapter reviews principles of the design of studies of treatment effect predictors, such as exploration of treatment-predictor interactions in randomized trials and the importance of replication of such estimates using data from multiple trials. The application of predictors of treatment effect in practice for matching individuals or subgroups to specific treatments is introduced as one type of stratified care, and the need for impact studies to investigate whether stratified care leads to better outcomes and improved efficiency of healthcare is highlighted.
Prognosis research in people with traumatic bleeding
Authors: Morley Katherine I , Perel Pablo
Published: February 2019

Prognosis research has played a major role in the development of approaches to the management of trauma. This is because of the need to identify those people who have a poor immediate prognosis if untreated and because of the many settings where choices have to be made on which patients to focus life-saving resources. This need for evidence-based triage based on prognostic information is particularly true for the problem of traumatic bleeding, and this chapter details the development and validation of a prognostic model and predictors of benefits or harms of treatment.
Individual participant data meta-analysis of prognosis studies
Authors: Riley Richard D , Debray Thomas PA , Moons Karel GM
Published: February 2019

An alternative approach to meta-analysis of aggregate data from published prognosis research (as addressed in Chapter 9), with its challenges of heterogeneity and lack of information, is to conduct meta-analysis of individual participant data (IPD), that is, the original raw data of the individuals who are included in the primary prognosis studies. The approach is increasingly feasible as data sharing and open-access data become more popular, and the chapter highlights why they offer enormous advantages for a robust and meaningful evidence synthesis of prognosis studies. In particular, better prognostic models can be developed and directly validated across multiple settings, and power is increased to detect genuine predictors of treatment response. Key steps in such an IPD meta-analysis are explained, including practical guidance on how to obtain, handle, and synthesize data, and what potential challenges may be encountered.
Machine learning in prognosis research
Authors: Schaar Mihaela van der , Hemingway Harry
Published: February 2019

Machine learning offers an alternative to the methods for prognosis research in large and complex datasets and for delivering dynamic models of prognosis. Machine learning foregrounds the capacity to learn from large and complex data about the pathways, predictors, and trajectories of health outcomes in individuals. This reflects wider societal drives for data-driven modelling embedded and automated within powerful computers to analyse large amounts of data. Machine learning derives algorithms that can learn from data and can allow the data full freedom, for example, to follow a pragmatic approach in developing a prognostic model. Rather than choosing factors for model development in advance, machine learning allows the data to reveal which features are important for which predictions. This chapter introduces key machine learning concepts relevant to each of the four prognosis research types, explains where it may enhance prognosis research, and highlights challenges.
Rheumatological emergencies
Authors: Ramrakha Punit S. , Moore Kevin P. , Sam Amir H.
Published: February 2019

This chapter details rheumatological emergencies, including acute monoarthritis, septic arthritis, crystal arthropathy, polyarthritis, rheumatoid arthritis, seronegative arthritides (spondyloarthropathies), reactive arthritis, ankylosing spondylitis, enteropathic arthritis, infections, vasculitis, systemic lupus erythematosus (SLE), Wegener’s granulomatosus and microscopic polyarteritis nodosa (PAN), cryoglobulinaemia, giant cell (temporal) arteritis, polymyalgia rheumatica (PMR), back pain, prolapsed intervertebral disc, and C1-esterase inhibitor deficiency (angioneurotic oedema).
Szasz, suicide, and medical ethics
Authors: Annas George J.
Published: February 2019

Szasz objected to the medicalization of suicide, the legalization of suicide prevention, and especially the coercive role of psychiatry in this realm. He declared that, by medicalizing suicide, we banish the subject from discussion. What is meant by acceptable and unacceptable “suicide”? Who has a right to commit suicide? How does suicide implicate freedom? Does it reflect abortion jurisprudence? How do psychiatrists become suicide’s gatekeepers? Current phenomena (e.g., new physician-assisted suicide legislation) illuminate these and other issues (e.g., euthanasia, informed consent, informed refusal, the “right to die,”), all suggesting how Szasz would react to each. Suicide is legal, but is almost always considered a result of mental illness. Courts approve psychiatrists who want to commit “suicidal” patients involuntarily. Granting physicians prospective legal immunity for prescribing lethal drugs is, at best, a strange and tangential reaction to our inability to discuss suicide (and dying) rationally. Szasz got it right.
Taking Szasz seriously—and his critics, too: Thesis, antithesis, and a values-based synthesis
Authors: Fulford K.W.M.
Published: February 2019

Szasz attracted applause from opponents of medical psychiatry, for advancing his thesis that mental illnesses are outside the scope of biomedical sciences; and criticism in equal measure from proponents of biomedical psychiatry, for excluding patients from clinical care. There is a third way to respond to Szasz’s idea of this myth, emerging out of value theory in the Oxford analytic tradition of ordinary language philosophy, which knits together thesis and antithesis into a new, values-based synthesis. The first of two main sections in this chapter builds on the story of a real (though biographically disguised) person to illustrate the new synthesis, values-based practice (VBP); while the second section outlines how this new synthesis is being applied in psychiatry and in areas of bodily medicine, such as surgery, as a complement and partner to evidence-based practice (EBP). The conclusion is a personal anecdote about Szasz.
Rights, responsibilities, and mental illnesses: A chronology of the Szasz decades
Authors: Radden Jennifer
Published: February 2019

Szasz’s influence through the intellectual history of individual responsibility is powerful. If mental illness is a myth, then ethical consequences follow, although some ethical developments have ontological, very Szaszian, implications. Szaszian writing is replete with his ethical conception of individual responsibility, emphasizing rights, freedom, autonomous agency, and human dignity for persons with aberrant behaviors. Themes of individual responsibility may be sorted into four variants, loosely identifiable by decade: (1) stress on mental patients’ rights (1970s); (2) application of identity politics to the mentally disabled (1980s and 1990s); (3) emergence of self-help approaches through recovery, rehabilitation, and other “consumer” and “survivor” movements (1990s and 2000s); and (4) trend toward public mental health as prevention, associated with global mental health policy (2000s to the present). Each may be critically evaluated in relation to personal responsibility. The idea of prevention reverts to ontology. Revised public mental health models mirror Szasz’s ontology of mental illness.
Genetic Consultations in the Newborn
Authors: Clark Robin D. , Curry Cynthia J.
Published: February 2019

This book was written to assist clinicians who care for newborns with congenital abnormalities in their diagnosis, genomic testing, and management. The goal was to make the evaluation of common neonatal anomalies and genetic syndromes accessible and understandable. In addition, the book may serve as an initial guide for practitioners in areas in which clinical genetic expertise is not readily available. As the book was being written, the testing paradigm shifted to a genomic approach: Chromosome analysis gave way to microarrays, and single gene testing was largely replaced by gene panels and exome sequencing. Thus, this book, which was initially intended as a clinical primer, of necessity became a resource for gene-based information as well.
Diaphragmatic Hernia
Authors: Clark Robin D. , Curry Cynthia J.
Published: February 2019

This chapter reviews background information about the incidence, risk factors, genetics, family history, recurrence risk, and epidemiology of isolated and syndromic diaphragmatic hernia. The chapter reviews the typical multifactorial inheritance pattern of isolated sporadic diaphragmatic hernia and its low recurrence risk, which is distinct from more complex single gene disorders. The discussion on the differential diagnosis of diaphragmatic hernia summarizes other intrathoracic disorders that can give a similar radiographic appearance. The common genetic causes of diaphragmatic hernia are discussed including chromosome anomalies (aneuploidy, mosaic tetrasomy 12p, recurrent copy number variants), and Mendelian disorders that include malformations in other organ systems and overgrowth conditions. The chapter gives recommendations for evaluation and management. A clinical case presentation features a large for gestational age infant with diaphragmatic hernia and bitemporal alopecia caused by Pallister–Killian syndrome.
Anorectal Malformations
Authors: Clark Robin D. , Curry Cynthia J.
Published: February 2019

This chapter reviews background information about the incidence, risk factors, genetics, family history, recurrence risk, and epidemiology of various types of isolated and syndromic anorectal malformations. Associated anomalies that are commonly encountered in infants with anorectal malformations are reviewed. The discussion on the differential diagnosis of anorectal malformations summarizes its common causes, including teratogenic agents (ART, maternal diabetes, obesity), chromosome anomalies (aneuploidy, recurrent microdeletions, cat-eye syndrome), and monogenic multiple malformation syndromes. The chapter provides recommendations for evaluation and management. A clinical case presentation features a term infant with anal atresia, who had severe respiratory failure secondary to alveolar capillary dysplasia with misalignment of pulmonary veins.
Hirschsprung Disease
Authors: Clark Robin D. , Curry Cynthia J.
Published: February 2019

This chapter reviews background information about the incidence, risk factors, sex ratio, genetics, family history, recurrence risk, and epidemiology of the various types of isolated and syndromic Hirschsprung disease. Distinctions that characterize long segment, short segment, zonal, total colonic, and total intestinal aganglionosis are reviewed. The discussion on the differential diagnosis of Hirschsprung disease summarizes its common causes, including chromosome anomalies (Down syndrome and recurrent microdeletions), and Mendelian traits associated with isolated disease and syndromic aganglionosis with non-GI malformations. This chapter includes gives recommendations for evaluation and management. A clinical case presentation features an SGA microcephalic infant who failed to pass meconium with Goldberg–Shprintzen syndrome.
Renal and Urinary Tract Anomalies
Authors: Clark Robin D. , Curry Cynthia J.
Published: February 2019

This chapter reviews background information about the incidence, risk factors, genetics, recurrence risk, and epidemiology of congenital anomalies of the renal and urinary tract (CAKUT) including hydronephrosis, horseshoe kidney, renal agenesis, multicystic dysplastic kidneys, and polycystic kidneys, congenital nephrotic syndromes, bladder and cloacal exstrophy, and obstructive uropathies. The discussion on the differential diagnosis of CAKUT summarizes common causes of various structural and functional renal anomalies and obstructive uropathies, including teratogenic agents, chromosome anomalies, monogenetic renal anomalies, and multiple malformation syndromes. Mendelian renal disorders that feature associated nonrenal anomalies such as craniofacial disorders, eye anomalies, skeletal dysplasias, CNS anomalies, and ciliopathies are reviewed. The chapter gives recommendations for evaluation and management. A clinical case presentation features an infant with renal tubular dysgenesis.
Polydactyly
Authors: Clark Robin D. , Curry Cynthia J.
Published: February 2019

This chapter reviews background information about the prevalence, sex ratio, genetics, recurrence risk and epidemiology of isolated and syndromic preaxial, postaxial and mesoaxial (central) polydactyly of the hands and feet. Various patterns of isolated and bilateral polydactyly and common associated malfomations (syndactyly, craniosynsostosis, GI anomalies, macrocephaly, mocrpcephaly, renal cysts) are described. The discussion on the differential diagnosis of polydactyly summarizes its common causes, including teratogenic agents, diabetic embryopathy, chromosome anomalies, and congenital malformation syndromes caused by Mendelian traits. It gives recommendations for evaluation and management. A clinical case presentation features an infant with tibial hypoplasia/aplasia with polydactyly (Werner mesomelic syndrome).
Skeletal Dysplasias
Authors: Clark Robin D. , Curry Cynthia J.
Published: February 2019

This chapter discusses a general approach to diagnosing and preparing for the birth of an infant with a skeletal dysplasia. The discussion on the prenatal evaluation includes the importance of the gestational age at which US skeletal changes are apparent, the assessment of body proportions, as well as nd bone density and morphology. The ratio of long bone to chest circumference can guide a determination of viability or lethality. Rapid targeted prenatal exome testing may aid decision making. Formation of a prenatal birth plan is suggested. Recommendations on evaluating an infant with a skeletal dysplasia after birth include how and what to measure, what radiographs to order and how to pick the most relevant genetic testing approach. The importance of genetic follow up is stressed. The clinical case presentation features an infant with hypochondrogenesis.
Skeletal Dysplasias
Authors: Clark Robin D. , Curry Cynthia J.
Published: February 2019

This chapter reviews the incidence, genetics, recurrence risk, and the more common life-limiting skeletal dysplasias. The discussion on the differential diagnosis of these severe skeletal dysplasias summarizes their distinctive clinical and radiographic features and prognosis. The most common of these is Thanatophoric dysplasia. Other reviewed disorders include Campomelic dysplasia, Achondrogenesis, the Short Rib Polydactyly syndromes, Atelosteogenesis, rhizomelic chondrodysplasia punctata, and perinatal hypophoshatasia. The potential to alter the lethal natural history of formerly lethal hypophosphatasia by immediate treatment with asofostase alfa is highlighted. Recommendations for genetic panel testing, other evaluations, and parental counseling are provided. The clinical case presentation features an infant with Thanatophoric dysplasia.
Whiteness
Authors: Stein Melissa
Published: February 2019

Whiteness as a conceptual framework—and whiteness studies, the interdisciplinary field it precipitated—largely developed from two overlapping scholarly strands that sought to “reverse the view” of how we think, and talk, about race. Though both activists and scholars had long described the insidious effects of racism and discrimination on people of color, and the pervasive disadvantages they faced in US society, in 1989 women’s studies scholar Peggy McIntosh flipped the script to interrogate the generally unseen, and unearned, advantages white people carry with them in every aspect of life. Her now classic article, “White Privilege: Unpacking the Invisible Knapsack,” articulated the concept of “white privilege” for a broad audience, and it was quickly adopted for classroom use by many secondary and university instructors. What made the article particularly useful in the classroom was her inclusion of a list of privileges demonstrating the range of ways in which whiteness is constructed as a normative and neutral category, such as “I can choose blemish cover or bandages in ‘flesh’ color and have them more or less match my skin.” Her article continues to be in heavy use in classrooms and anti-racist workshops, while McIntosh herself has revisited the concept of white privilege, as well as male privilege, in numerous publications. A similar trend of reversing the view emerged from historians and literary scholars beginning in the 1990s. Previously, scholarship on race was dominated by studies examining how Europeans and European Americans viewed black people in particular, and to a lesser extent groups from indigenous, Asian, or Latin American descent. This focus was exemplified by numerous foundational texts on racial thought, many of which emphasized the rise of scientific racism in the 19th century, including William Stanton’s The Leopard’s Spots: Scientific Attitudes toward Race in America, 1815–1959 (Chicago: University of Chicago Press, 1960); Winthrop Jordan’s White over Black: American Attitudes toward the Negro, 1550–1812 (Chapel Hill: University of North Carolina Press, 1968); John Haller Jr.’s Outcasts from Evolution: Scientific Attitudes of Racial Inferiority, 1859–1900 (Carbondale: Southern Illinois University Press, 1971); and George Frederickson’s The Black Image in the White Mind: The Debate on Afro-American Character and Destiny, 1817–1914 (New York: Harper & Row, 1971). In response, historians began to interrogate the changing meanings of whiteness over time, both politically and culturally. Within that new historiographic turn, some historians focused on the ways in which the parameters of whiteness were tied to patterns of immigration and assimilation, while others looked to the role of social class in the development of the nascent and often amorphous racial category, while still others even more literally reversed the view to examine how African Americans have viewed white people historically.