bluuebunny/crossref_metadata_2025 huggingface dataset:
General Processes
Authors: Fine Perry G. , Kestenbaum Matthew
Published: September 2016

This chapter discusses how to maximize the quality of life for dying patients. It illustrates the overall schema that the book follows, which emphasizes how an organized structure is useful to define the mechanics and fundamentals of hospice care and the overall goal of making high-quality interdisciplinary care during the last phase of life the standard. Therefore, the full range of evaluation, assessment, and interventions proposed may need to be changed to home in on the patient’s and family’s highest priorities to meet their most pressing needs before death. At admission, the likely longevity of the patient (i.e., prognosis) needs to be well considered so that the issues and goals elaborated in this guide might be realistically tailored to each patient’s needs and attainable goals. The most productive and “patient-centric” place to start, maintain, and deepen a trust-based relationship is with the question, “What matters most?”
Paediatrics
Authors: Baldwin Andrew , Hjelde Nina , Goumalatsou Charlotte , Myers Gil
Published: September 2016

This chapter discusses paediatrics. It includes history and examination, common infant symptoms, neonatal life support (NLS), the neonatal intensive care unit (nicu), ventilatory support for neonates, examination of the neonate, neonatal jaundice, rhesus haemolytic disease, respiratory distress syndrome (RDS) and other neonatal problems, minor neonatal problems, enteral and parenteral nutrition, breastfeeding and bottle feeding, preterm and small-for-dates babies, genitourinary diseases, disorders of sex development, congenital heart disease, murmurs and heart sounds in children, orofacial clefts (cleft lip and palate), neural tube defects (NTDS), measles, rubella, mumps, and erythroviruses, varicella (herpes) zoster virus (VZV), vertical HIV infection, non-accidental injury, sudden unexplained infant death (SUID/SIDS), screening and child health promotion, genetic disease and prevention, genetic counselling, childhood obesity, hypertension in children, upper and lower respiratory infection, cystic fibrosis, asthma in children, infective endocarditis (IE), rheumatic fever, diarrhoea, malnutrition, abdominal pain, abdominal distension, coeliac disease, urinary tract infection (UTI), renal failure and disease, acute glomerulonephritis and nephrotic syndrome, failure to thrive, growth charts, endocrine and metabolic diseases, precocious puberty, diabetes mellitus (DM), diabetic ketoacidosis (DKA), poisoning (iron, salicylate, paracetamol), acute lymphoblastic leukaemia (ALL), anaemia, primary antibody deficiencies, raised intercranial pressure, migraine, encephalitis, meningitis, epilepsy and febrile convulsions, behavioural problems, delays in talking and walking, impairment and disability, developmental screening tests, paediatric reference intervals and charts.
Gynaecology
Authors: Baldwin Andrew , Hjelde Nina , Goumalatsou Charlotte , Myers Gil
Published: September 2016

This chapter explores gynaecology. It includes history and examination, sexual health and dysfunction, gynaecological anatomy, genital abnormalities, female genital mutilation, normal menstruation, defining menstrual abnormalities, amenorrhoea, polycystic ovaries, menorrhagia, premenstrual syndrome, the menopause and hormone replacement therapy (HRT), termination of pregnancy, miscarriage, recurrent miscarriage, ectopic pregnancy, pregnancy of unknown location, gestational trophoblastic disease, the vulva, vulval lumps and ulcers, the cervix and cervical screening, management of CIN, cervical cancer, the uterus, vaginal cancer, fibroids in pregnancy, endometrial cancer, endometrial sampling, benign ovarian cysts, ovarian cancer, vaginal discharge, pelvic inflammatory disease, endometriosis, prolapse, subfertility (causes, tests, treatment), male subfertility, contraception, the ideal contraceptive, intrauterine contraceptive device and system, emergency contraception, combined hormonal contraceptives, progestogen-only contraceptives, sterilization, urinary incontinence, gynaecological surgery, pelvic pain, dyspareunia, and ovarian hyperstimulation syndrome.
Psychiatry
Authors: Baldwin Andrew , Hjelde Nina , Goumalatsou Charlotte , Myers Gil
Published: September 2016

This chapter discusses psychiatry. It outlines psychiatric history skills (principles, mental state exam, risk assessment, confidentiality, and physical ecamination), assessment of psychiatric symptoms (descriptive psychopathology, classification of disorders (ICD-10, DSM-V)), community psychiatry (community care, schizophrenia, depression, bipolar affective disorder, anxiety, OCD, and PTSD, and the withdrawal of psychotropics), emergency department psychiatry (suicide and suicidal ideation, deliberate self-harm, crisis intervention, urgent psychiatry situations, and managing violence), liaison psychiatry and organix illness (delirium and dementia), child and adolescent psychiatry (depression, psychosis, behavioural difficulties, sleep disorders, ASD, and ADHD), psychiatric subspecialties (substance and alcohol misuse, intellectual disability, personality disorders, eating disorders, psychosexual disorders, and perinatal disorders), psychological treatment and psychotherapy (cognitive therapy, behavioural therapy, dynamic psychotherapy, systemic/family therapy, counselling and supportive psychotherapy, group psychotherapy, play and art therapy), and mental health and the law (compulsory hospitalisation, consent, capacity, and the Mental Health Act).
Ophthalmology
Authors: Baldwin Andrew , Hjelde Nina , Goumalatsou Charlotte , Myers Gil
Published: September 2016

This chapter explores ophthalmology, including examining eyes, aids to ophthalmoscopy, testing visual acuity, the external eye, tears and lacrimation, orbital swellings and zoster, retinoblastoma, eye movements and squint, pupils and irises, refraction; myopia; astigmatism, visual field defects, the red eye, management of corneal ulcers, sudden painless loss of vision, gradual loss of vision, chronic simple glaucoma, cataract, the retina, the eye in diabetes mellitus, the eye in systemic disease, tropical eye disease, eye trauma, blindness and partial sight, drugs and the eye, contact lenses, blepharospasm, allergic eye disease, floaters, flashes, and haloes, and refractive procedures.
Eponymous syndromes
Authors: Baldwin Andrew , Hjelde Nina , Goumalatsou Charlotte , Myers Gil
Published: September 2016

This chapter discusses eponymous syndromes, including Alport’s syndrome, Asperger’s syndrome, Bardet-Biedl syndrome, Batten disease, Backer’s muscular dystrophy, Beckwith-Wiedemann syndrome, Bourneville’s disease, Briquet’s syndrome, Bruton agammaglobulinaemia, Buchanan’s syndrome, Capgras syndrome, Castleman’s disease, Chediak-Higashi syndrome, Condari-Hünermann syndrome, Cornelia de Lange syndrome, Corrigan’s syndrome, Cotard’s syndrome, Crigler-Najjar syndrome, Dandy-Walker syndrome, De Clerambault’s syndrome, Diamond-Blackfan anaemia, DiGeorge’s syndrome, Di Guglielmo’s disease, Duchenne muscular dystrophy, Ebstein’s anomaly, Edwards syndrome, Ehlers-Danlos syndrome, Eisenmenger syndrome, Erb’s palsy, Fallot’s tetrad, Fanconi anaemia, Galeazzi fracture, Ganser symptom, Gaucher disease, Hand-Schüller-Christian syndrome, Hartnup’s disease, Hunter syndrome, Huntington’s disease, Hunt’s syndrome, Hurler syndrome, Hutchinson’s triad, Ivemark syndrome, Kartagener syndrome, Kawasaki disease, Klinefelter syndrome, Kugelberg-Welander, Klippel-Feil syndrome, Landouzy-Dejerine muscular dystrophy, Laurence-Moon syndrome, Leber’s herediary optic atrophy, Lesch-Nyhan syndrome, Lewy body dementia, Li-Fraumeni synfrome, Martin-Bell (fragile x) syndrome, McCune-Albright syndrome, Monteggia fracture, Morquio’s syndrome, Niemann-Pick disease, Noonan syndrome, Ondine’s curse, Othello syndrome, Patau’s syndrome, Pick’s dementia, Pierre Robin syndrome, Pompe disease, Prader-Willi syndrome (PWS), Ramsay Hunt syndrome, Rett stndrome, Reye’s syndrome, Russell Silver syndrome, Shakhonovich’s syndrome, Still’s disease, Sydenham’s chorea, Syme’s amputation, Tay-Sachs disease, Tolosa-Hunt syndrome, Treacher Collins syndrome, Turner’s syndrome, Ulysses syndrome, Van Gierke’s syndrome, Werner syndrome, and Wiskott-Aldrick syndrome.
Emergency medicine
Authors: Baldwin Andrew , Hjelde Nina , Goumalatsou Charlotte , Myers Gil
Published: September 2016

This chapter explores emergency medicine, including appropriate and inappropriate use of emergency departments (EDs), as well as burns, drowning, electric shock injuries, high altitude medicine, wound management, bites, stings, and foreign bodies, major trauma, the Glasgow Coma Score, trauma networks, choking, advanced trauma life support, shock in the trauma patient, road traffic accidents, chest injury, blast injuries, head injury, abdominal injury, radiology in trauma, pelvic injury, and trauma in pregnancy.
What are the principles and goals of antimicrobial stewardship?
Authors: Robb Fiona , Seaton Andrew
Published: September 2016

Antimicrobial stewardship (AS) is a coordinated strategy for quality improvement designed to improve the appropriate use of antimicrobial agents to optimize clinical outcomes whilst minimizing collateral antimicrobial effects including antimicrobial resistance andClostridium difficileinfection. AS is a function of the multidisciplinary antimicrobial management team and is dependent on key relationships with infection protection and control, clinical governance, therapeutic, and medical management structures within a healthcare organization. AS should operate within a national framework and is driven by quality improvement and patient safety. Engagement with prescribers through education, surveillance, and audit and feedback are key to the success of an AS programme.
Information technology in antimicrobial stewardship
Authors: Laundy Matthew
Published: September 2016

The information technology (IT) revolution has totally changed the way we function in society, yet sometimes it appears that this revolution has bypassed healthcare, partially due to its inherently conservative nature and partially to justifiable concerns about patient safety and privacy. Information is essential for an effective antimicrobial stewardship programme. Stewardship programmes have been hampered by the lack of IT and informatics systems to monitor, measure, and support them. This chapter reviews the sources of information required for antimicrobial stewardship, electronic health records, including electronic prescribing, and clinical decision support systems. Barriers to the implementation of IT in stewardship are examined. Social media and online educational resources are discussed. Big Data and clinical intelligence systems are briefly investigated.
History, epidemiology, and aetiology
Authors: Levy David
Published: September 2016

Outline of the key landmarks in the history of Type 1 diabetes. Epidemiology, focusing on its rising incidence and the increasing prevalence of later-onset autoimmune diabetes. Genetics are briefly covered; the evidence for and against the impact of a variety of environmental factors thought to be important in aetiology are emphasized, especially in relation to prospective randomized clinical trials (RCT) in early Type 1 diabetes, aiming to delay the onset of autoimmunity in high-risk individuals or slow the decline in C-peptide levels shortly after clinical diagnosis. The balance-risk hypothesis, which allows for inclusion of protective and promoting factors, is introduced.
Technology, current and future
Authors: Levy David
Published: September 2016

People with Type 1 diabetes benefit from appropriate use of technology when it is affordable. Insulin pump treatment, in increasing use from the 1970s, is becoming widespread, and in certain countries near-universal. The principles, indications for, and examples of available pump devices are outlined, and an approach to insulin dosing with pumps. Minor complications are still common, but hyperglycaemic emergencies rare, and overall quality of life broadly increases with pump treatment. Continuous glucose monitoring, in use since the late 1990s, is also increasing in sophistication. Blinded diagnostic systems are widely used in clinics, and more recently personal continuous monitoring devices have been shown to improve glycaemic control if worn most of the time. The ultimate aim – the closed-loop system, or artificial pancreas – is in sight.
Microvascular complications: DCCT/EDIC, Pittsburgh, and Finland
Authors: Levy David
Published: September 2016

The progression of microvascular complications is documented in the three-decade Diabetes Control and Complications Trial (DCCT), its follow-on, the Epidemiology of Diabetes Interventions and Complications (EDIC) study, and two non-interventional studies, the Pittsburgh Epidemiology of Diabetes Complications study (EDC) and FinnDiane. The DCCT is described in detail. DCCT confirmed that good glycaemic control (A1C 7% (53 mmol/mol)) for 7 years reduced the risk of microvascular complications by 50–75% compared with A1C of 9% (75). Severe hypoglycaemia associated with improved glycaemia, is not seen in recent studies, probably due to increasing expertise in managing intensive control. Good control has a long legacy effect, and has recently been shown to reduce long-term mortality. End-stage microvascular complications occur in 1% or fewer. Glycaemia accounts for nearly all the differences in risk of microvascular complications. Other studies identify a persistent A1C 9% or more as a major risk for advanced tissue complications.
Introduction
Authors: Rugkåsa Jorun , Molodynski Andrew , Burns Tom
Published: September 2016

This book gives a broad overview of the historical development of ideas about coercion, its current practice, and theory. It also considers future directions for research and clinical practice. Crucially it gives, for the first time, a global picture of these issues from those researching or working in mental health care across all continents. Coercion has always been a central concern in mental health care, and never more than now. The move away from asylums (deinstitutionalization) and into the community has widened the debate to all those with mental health problems rather than the much smaller group detained in institutions. The issues facing us now are consequently different and much more varied and wide ranging. This volume will bring the reader up to date regarding concepts, theories, and key issues pertaining to community coercion in different regions of the world.
Descriptive and epidemiological studies
Authors: Morandi Stéphane
Published: September 2016

While there is considerable variation in the precise legal structures and terminology used[community treatment orders (CTOs), mandated outpatient treatment, outpatient commitment, assisted outpatient treatment, or supervised community treatment] there is surprising consistency in clinical practice. Orders are generally used in similar situations with similar groups of patients. They have been extensively researched since they were first introduced over 30 years ago but the evidence base has been patchy, conflicting, and often of poor quality. This chapter is the first of two summarizing current evidence relating to the use of formal powers in the community. It considers the extensive literature from descriptive studies of new and established regimes. The large number of audits and descriptions considered here will provide a rich background and begin to develop themes that will be carried forward to a chapter summarizing controlled or experimental outcome studies.
Human rights in community psychiatry
Authors: Richardson Genevra
Published: September 2016

This chapter examines the increased concern for human rights within the global mental health policy agenda and considers what value human rights might add in relation to the use of coercion in community mental health. It describes the position underlying the European Convention on Human Rights (ECHR) and compares it with the more radical approach of the United Nations Convention on the Rights of Persons with Disabilities (CRPD). While the CRPD might be more challenging to mental health professionals, it contains within its principles that the wishes and preferences of the person be centre stage and as such deserve to be taken seriously in the provision of community mental health care.
Ethical Issues in Creating a Child
Authors: Fleischman Alan R.
Published: September 2016

This chapter describes the burgeoning field of reproductive technology, the use of medical approaches to assist in the creation of embryos and babies in the face of infertility from a variety of causes. It examines the many religious and ethical concerns of practitioners and patients associated with artificial insemination, gamete and embryo donation, storage and disposition, and the practices of in vitro fertilization, gestational surrogacy, and preimplantation genetic diagnosis.The chapter discusses the arguments against all these approaches, including the religious points of view (Catholic, Protestant, Jewish, Muslim). The role of the use of government funds, as well as private insurance to overcome infertility is covered.
Ethical Issues in Genetic Testing and Screening in Children
Authors: Fleischman Alan R.
Published: September 2016

This chapter describes genetic testing and screening in children and presents the many ethical issues associated with these practices. It examines the unique ethical concerns in genetic testing in children with particular emphasis on screening for adult-onset diseases, newborn screening, and whole exome or genome testing. Whole genome testing is now available as a clinical tool for patients with undefined disorders, and has also been offered directly to the public as a way of exploring risk of future disease. In the first decades of the 21st century the ability to examine single-gene disorders has exploded as technology has allowed for more rapid and less expensive analysis of individual gene loci. The chapter also deals with ethical concerns in genetic research, biobanking, and revealing research findings to patients and families.
Ethical Issues in General Pediatric Practice
Authors: Fleischman Alan R.
Published: September 2016

This chapter describes several ethical issues that occur in the everyday practice of pediatrics, including: parent refusal of immunizations, suspected child abuse and neglect, conscientious objection to providing specific treatments, and parental requests for tests and treatments that are not medically indicated. The role of religious preferences of parents and child are covered. What can the clinical practitioner do to convince parents that vaccinations are not harmful and that vaccinations are important to the health of the child and also to the population as a whole? Is firing the patient an option? What other options do clinicians have? The chapter addresses those questions, as well as the ethical issues that arise in the relationships of physicians to their employers, to private and public insurers, and to industry.
Recognizing Addiction in Older Patients
Authors: Levesque Anna , Nunes Edward V.
Published: September 2016

Alcohol and substance-use disorders in older adults can present in primary care practice in subtle or confusing ways. Screening and diagnostic tools validated in younger populations may limit their recognition. The main objective of this chapter is to differentiate signs and symptoms of alcohol or substance use disorder from other medical and psychiatric comorbidities. We review normal metabolic changes associated with aging as well as clinical features of harmful drinking. The risks of combining alcohol with psychoactive prescription medications are also considered. The relevance of DSM-5 diagnostic criteria to older patients is explored, and we review the evidence for the importance of systematic screening using validated instruments in an older population. Therapeutic vs. aberrant uses of psychoactive prescription medications in the geriatric population are discussed. Finally, we review patterns of illicit substance use in older adults.
Brief Interventions for Substance-Use Disorder in Older Patients
Authors: Merchant Roland C. , Beaudoin Francesca L.
Published: September 2016

Substance-misuse brief interventions for older adults are structured interventions of relative brevity, although the purpose, number, and frequency of the intervention sessions can vary. Brief interventions provide initial linkage to appropriate follow-up care. This chapter provides an overview of brief interventions for substance misuse among older adults, a review of research examining the effectiveness of these interventions, and suggestions for research strategies on this topic. Limitations in the accuracy of screening instruments for alcohol and substance-use disorders in older adults are considered. We review age-related factors that influence the interventional needs of older adults. Contextual factors include medical and psychological conditions as well as cognitive decline and mobility challenges. We present preliminary evidence for the effectiveness of brief interventions for substance-use disorders in older adults. Future directions in research are explored, including the use of age-specific content to enhance outcomes from brief interventions.
Assessment in the Older Patient
Authors: Rao Rahul , Crome Ilana
Published: September 2016

Increased longevity and progressive increases in substance use in older people require clinicians to be proficient in assessing substance misuse in this age group. Assessment requires age-appropriate knowledge, skills and attitudes, taking into account atypical presentations that may challenge conventional diagnostic processes. A greater focus is needed on physical and social aspects of assessment, paying special attention to the influence of comorbid psychiatric and physical disorders. Physiological and pharmacological changes in older people alter the way that substances and other drugs are processed by the body and systemic effects on end-organ function. Such effects can include intoxication, withdrawal, and dependence. Assessment should take into account capacity, elder abuse, cultural competence, and the use of age-appropriate screening instruments. Such an approach will strongly influence treatment options and outcomes. The systematic approach outlined in this chapter is fundamental to the development of a successful treatment management plan.
Cardiac diseases and resuscitation
Authors: Macleod Dr Donald C , Scott Dr Ian , Macrae Professor Calum Archibald , Uren Dr Neal , Grubb Dr Neil , Bell Professor Derek , Jones Dr Mike , Proudfoot Dr Alastair , Dancy Dr Mark , Girling Miss Joanna , Page Miss Louise , Young Dr Matthew , Khamis Dr Ramzi Y
Published: September 2016

Chapter 4 discusses cardiac diseases and resuscitation, including symptoms, signs, and diagnostic investigations in cardiac disease, adult cardiopulmonary resuscitation, cardiovascular risk assessment, heart failure, acute coronary syndromes, arrhythmias, hypertension and hypertensive emergencies, thromboembolic disease, valvular disease, infective endocarditis, cardiomyopathies, congenital heart disease, heart disease in pregnancy, diseases of arteries and veins, rheumatic fever, pericarditis, ST segment elevation, and myocardial infarction.
Family resemblances: Compliance, the right to refuse treatment, noncompliance, resistance, reactance, and defiance
Authors: Potter Nancy Nyquist
Published: September 2016

This chapter aims to motivate the need for understanding defiance as part of a Wittgensteinian notion of family resemblances. It argues that some of the most central bioethical concepts are not always conceptually distinct and are, therefore, messy and unclear. This is explained in terms of Wittgenstein’s notion of family resemblances. Key legal and bioethical concepts are examined to illustrate, through two types of cases, not only how the right to refuse treatment, but also theories of compliance, noncompliance, reactance, and psychoanalytic resistance are drawn upon to explain why patients sometimes reject clinicians’ recommendations for medications and other treatment interventions. The underlying assumptions of these concepts point to the need for a full theory of defiant behavior. Because the role of norms is central to the rest of the book’s theory, this chapter also explains how the author understands norms and why they are crucial to attend to.
Disorders of Fructose Metabolism
Authors: Lachmann Robin H. , Cox Timothy M.
Published: September 2016

Hereditary fructose intolerance is an autosomal recessive disease which is manifest at weaning but formal diagnosis is often delayed until late childhood or adult life. Fructose, sucrose and sorbitol present in offending foods and drinks induce hypoglycaemia, hypophosphatemia, acidosis, hyperuricemia and hypermagnesemia. If unrecognized, the disease causes failure to thrive, a reno-tubular syndrome with nephrocalcinosis, jaundice, and ultimately liver injury. Parenteral administration of fructose or its congeners can be fatal. Molecular analysis of the aldolase B gene has revolutionized diagnosis. Treatment by a strict dietary exclusion (supplemented by water-soluble vitamins) is successful and, if instituted in a timely manner, is compatible with a normal life span. Early diagnosis and dietary modification are critical for well-being and normal development in affected children.
Serine Deficiency
Authors: de Koning Tom J.
Published: September 2016

Serine deficiency is a rare cause of intractable seizures and severe psychomotor retardation in infants and young children. However, in recent years it has become clear that serine deficiency in adolescents and adults can give rise to milder forms of seizure disorders and mild mental retardation or to a phenotype with severe progressive polyneuropathy. Serine deficiency can be diagnosed on the basis of low values of serine in plasma and CSF using routine amino acid analysis. However, with the introduction of next generation sequencing in clinical diagnostics the majority of patients are diagnosed through molecular testing of the three genes of the synthesis pathway. L-serine therapy is highly effective in the treatment of seizures and improvement of wellbeing and daily activities. Early diagnosis and timely treatment are important to prevent irreversible damage to the central or peripheral nervous system.
Biotinidase Deficiency and Biotin Holocarboxylase Synthetase Deficiency
Authors: Wolf Barry , Elrefai Sara
Published: September 2016

Biotin holocarboxylase synthetase and biotinidase deficiencies are biotin-dependent, autosomal recessively inherited disorders. Untreated individuals with both disorders usually develop neurological and cutaneous symptoms during childhood. There is limited information about older children or adults with holocarboxylase synthetase deficiency. Older individuals with biotinidase deficiency may exhibit spastic paresis, scotomata, and progressive optic neuropathy. Both disorders are readily treated with oral biotin supplementation. Asymptomatic individuals with biotinidase deficiency are at risk of developing symptoms at any age. Newborn screening for both disorders has been adopted in many countries. Newborn screening has facilitated identification of presymptomatic individuals, thereby allowing for early treatment and prevention of symptoms.
Disorders of Thiamine Metabolism
Authors: Sedel Frédéric , Hollak Carla E. M.
Published: September 2016

Thiamine is a water-soluble vitamin acting in the mitochondria as a cofactor for energy metabolism and, in the cytoplasm, in the pentose phosphate biosynthetic pathway. Its transport through the plasma membrane requires two transporters with overlapping functions: THTR1 encoded by SLC19A2, and THTR2 encoded by SLC19A3. Thiamine is transformed into its active form, thiamine pyrophosphate (TPP) by a kinase encoded by the TPK1 gene. Then it may enter the mitochondria through a TPP transporter encoded by SLC25A19. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anemia (TRMA). Mutations in SLC19A3 cause biotin/thiamine–responsive basal ganglia disease. Mutations in SLC25A19 may cause early microcephaly with death in infancy (also called Amish microcephaly) or a later-onset bilateral striatal necrosis with progressive peripheral neuropathy. Recently, mutations in the TPK1 gene have been associated with recurrent encephalopathy with mild lactic acidosis.
Familial Lecithin Cholesterol Acyl Transferase Deficiency Syndromes
Authors: Ng Dominic S.
Published: September 2016

Lecithin cholesterol ester transferase (LCAT) is the sole enzyme in the circulation that mediates the esterification of free cholesterol (FC) to cholesterol ester (CE) in lipoproteins. Mutations in the LCAT gene result in one of two clinical syndromes: complete LCAT deficiency syndrome, and “fish eye disease.” The former is characterized by a broad spectrum of clinical features, including profound high-density lipoprotein (HDL) deficiency, hypertriglyceridemia, corneal opacities, anemia, neuropathies, and nephropathy. In contrast, fish eye disease patients develop severe HDL deficiency and severe corneal opacities, but the nervous system and kidneys are typically unaffected. Whether there is a predisposition to accelerated coronary heart disease with LCAT deficiency remains controversial. Currently, severe corneal opacities may be treated with corneal transplant. Only anecdotal evidence is available for preventive measures of progressive renal complications. LCAT replacement therapies are under investigation.
Disorders of Purine Metabolism Affecting Adults
Authors: Ceballos-Picot Irène , Jinnah H. A.
Published: September 2016

Defects in some of the enzymes of purine metabolism are known to be associated with specific clinical disorders that may manifest at any age. Some of these disorders first present in adulthood, while many present earlier but go undiagnosed until adulthood. This chapter describes the disorders for which the metabolic basis is well characterized, in particular Lesch-Nyhan disease caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) and characterized by hyperuricemia, and variable motor and cognitive disability. Adenine phosphoribosyltransferase (APRT) deficiency is a not well known disease, and sometimes the diagnosis is made only after renal insufficiency is irreversible in adult patients.
Porphyrias
Authors: Langendonk Janneke G. , Cox Timothy M.
Published: September 2016

The porphyrias are disorders caused by overproduction of metabolites involved in heme biosynthesis. The four acute porphyrias— acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and Doss Porphyria—present with severe abdominal pain, often accompanied by agitation, hypertension, and tachycardia associated with neuropathy and sometimes paralysis. Painful and disabling neurovisceral attacks are due to excess production of the heme precursor ALA (delta-aminolevulinic acid).

While 90% of individuals with an inherited defect in heme biosynthesis will never develop symptoms, acute attacks in those affected are provoked by drugs, fasting, and alcohol; in women of reproductive age, they usually occur in the progestagenic phase of the menstrual cycle. All other porphyrias are considered cutaneous porphyrias. They present with blisters or pain on light exposed areas, toxic porphyrins accumulate and give rise to skin symptoms. The cutaneous porphyrias (PCT, EPP, XLEPP, and HEP) do not present with acute neurovisceral attacks (e.g., abdominal pain). However, severe systemic complications can occur.
Lysosomal Storage Disorders
Authors: Poorthuis Ben
Published: September 2016

Lysosomal storage disorders are characterized by the presence of nondegraded material in endosomal / lysosomal compartments. Any process that interferes with the lysosomal degradation or endosomal / lysosomal transport of molecules can give rise to storage. The cause may be genetic in nature or environmental, as is the case in drug-induced lipidoses or when undegradable materials are present. In this chapter we discuss the genetic lysosomal storage disorders.
Gangliosidoses (GM1 and GM2)
Authors: Roze Emmanuel , Sedel Frédéric
Published: September 2016

GM1 gangliosidosis is due to beta-galactosidase deficiency. The adult-onset form is characterized by progressive generalized dystonia, often associated with akineto-rigid Parkinsonism. Mild skeletal dysplasia and short stature are good diagnostic clues. GM2 gangliosidosis is due to beta-hexosaminidase deficiency. The adult-onset form is characterized by complex neurological disorders, in which features resulting from cerebellar and motor neuron dysfunction are the most frequent. Movement disorders, psychotic symptoms, mild pyramidal signs, axonal polyneuropathy, autonomic dysfunction, and vertical supranuclear palsy can also be observed. Clinical severity and the rate of progression both vary widely from one patient to another. Diagnosis is based on measurements of enzyme activity and molecular analysis. Physiotherapy, speech therapy and management of swallowing are crucial for these patients’ quality of life and prognosis.
Cardiac Aspects of INHERITED METABOLIC DISEASES
Authors: Elliott Perry , Limongelli Giuseppe
Published: September 2016

More than 40 inherited metabolic disorders cause heart disease, including fatty acid oxidation defects, glycogen storage disorders, lysosomal storage disorders, peroxisomal diseases, mitochondrial cytopathies, organic acidemias, aminoacidopathies, and congenital disorders of glycosylation. The pattern and severity of cardiac involvement varies between disorders but includes congenital heart diseases, heart muscle diseases, arrhythmias and sudden death, and heart failure. The majority of IMDs are multisystem diseases, but in a few cases cardiac disease is the predominant clinical feature and the main determinant of prognosis. For an increasing number of IEMs there are specific therapies designed to treat or ameliorate the effects of the underlying metabolic defect. In some cases, these therapies have an important effect on the progression of cardiac disease.
Skeletal Abnormalities
Authors: Hollak Carla E. M.
Published: September 2016

The skeleton is frequently involved in inborn error of metabolism as part of a chronic, multisystem disease. Several disorders in adulthood may present with skeletal symptoms as a first sign of an underlying metabolic disease. Examples are Gaucher disease, alkaptonuria, hypofosfatasia or hereditary hypophosphatemic rickets. In addition, secondary skeletal problems, specifically osteoporosis, is a frequent complication of a wide range of inborn errors of metabolism. The presence of additional symptoms, specific radiographical appearance and/or biochemical abnormalities can assist in making the appropriate diagnosis.
Approach to the Patient with Hepato-Gastroenterological or Abdominal Signs and Symptoms
Authors: Cassiman David , Hollak Carla E. M.
Published: September 2016

A variety of signs and symptoms related to the gastrointestinal tract, including the liver, can be found as a presenting symptom of an inborn error of metabolism in adults. In particular hepatomegaly, a frequent symptom of lysosomal storage disorders and hyperammonemia not caused by acquired liver disease are manifestations of a late presentation of a metabolic disorder. A wide variety of other symptoms and signs including jaundice, abdominal pain or diarrhea, may be caused by toxic metabolites or storage of undergraded macromolecules as well.
Emergencies
Authors: Lachmann Robin H. , Murphy Elaine
Published: September 2016

Patients with an inherited metabolic disease can present acutely either with a metabolic decompensation, or due to an emerging complication. In either case, it is important to recognize the underlying metabolic condition as disease specific management is likely to be necessary. In this chapter we discuss some of the more prequent acute presentations which can be seen in adults with IMDs.
Approach to the Patient with Hyperhomocysteinemia
Authors: Briddon Anthony
Published: September 2016

Hyperhomocysteinaemia (HHC) may occur as a result of a variety of inherited and acquired conditions ranging from mild and benign to severe and life threatening, and there is a higher probability that they will first manifest during early adulthood rather than infancy, with acquired forms commonly presenting into old age. Milder forms of HHC may exist without homocystinuria, and screening tests relying on the presence of homocystine in the urine will give a false negative result. Methylcobalamin is an essential cofactor for methionine synthase, a key enzyme in the homocysteine remethylation pathway: consequently, investigation for inherited abnormalities of intracellular B12 metabolism forms an integral part of the biochemical investigation of HHC. Additionally, there are acquired forms of HHC, notably those involving vitamin B12 deficiency and malabsorption. Mild to moderate HHC has also been associated with alcohol abuse, excessive caffeine intake, hypothyroidism, and poor renal function.
Metabolic Acidosis
Authors: Krywawych Steve
Published: September 2016

Hydrogen ion turnover in resting adults exceeds 500 mole/24 hours and maintenance of hydrogen ion balance is an essential requirement for normal cellular, organ and body function. A variety of mechanisms co-operate to ensure that the hydrogen concentration in plasma can be tightly controlled between 35 to 46 nano moles per litre and any deviation being rapidly compensated. Inherited metabolic diseases can to a variable degree impact to disturb this equilibrium. The underlying causes responsible for this outcome are disease dependent and may occur due to generation of overwhelming quantities of hydrogen per se, or at the level of renal reabsorption or generation of bicarbonate or due to tissue hypoxia resulting from either poor pulmonary or cardiac function.
Interpretation of Acylcarnitine Analysis Results
Authors: Duran Marinus , de Almeida Isabel Tavares
Published: September 2016

The analysis of acylcarnitines in plasma or blood spot samples by tandem mass spectrometry will detect all 15 defects of mitochondrial fatty acid beta-oxidation, although false negative results may occur in well-fed, non-fasting patients. Moreover, more than 20 organic acidemias can be detected by this methodological approach. An acylcarnitine profile should be part of the work-up of patients presenting with rhabdomyolysis and/or hypoglycemia and adults with an unexplained leukoencephalopathy. Cases with abnormal acylcarnitines require an analysis of urine organic acids as well as enzyme activity evaluation and molecular investigations to confirm the inherited defect.
Lesbian, Gay, Bisexual, and Transgender Factors in the Process of Acceptance of Mental Illness
Authors: Mizock Lauren , Russinova Zlatka
Published: September 2016

This chapter reviews the multiple levels of stigma encountered by lesbian, gay, bisexual, and transgender (LGBT) individuals with mental illness. Associated disparities in mental health care are discussed. Results from the qualitative case narrative analysis are provided to identify themes related to the facilitators and barriers in the acceptance process for LGBT individuals with mental illness. Three participant narratives are included to assist practitioners in applying these findings to clinical practice. Selected case narratives represent participants from a range of LGBT identities to illustrate facilitators and barriers in the acceptance process among individuals within this group. A clinical strategies list, discussion questions, activities, the “Acceptance and Sexual and Gender Identities Worksheet,” and explanatory diagrams are included at the close of the chapter.
Personal and Professional Characteristics of Japanese Master Therapists
Authors: Hirai Tatsuya , Goh Michael
Published: September 2016

This study explores the characteristics of 10 Japanese master therapists who gained the largest number of nominations from Japanese psychotherapists. Qualitative data analysis was processed utilizing the grounded theory approach and the consensual qualitative research method. Results clarified important characteristics of Japanese master therapists. First, as a foundation, they possess positive personality traits, such as modesty, warmth, sincerity, absence of self-centeredness, and resilience. Second, they possess an exceptional ability to perceive and process various cognitive and emotional information from the client, from the therapist him- or herself, and from the therapy process. Third, master therapists are able to continuously learn from their experiences, stimulated by their curiosity and creativity, as well as their sense of responsibility and discipline as professionals. Finally, cross-cultural comparison of Japanese and American master therapists are discussed, a model of master therapist development is proposed, and suggestions for future research and therapist training are offered.
Session 1: Welcome
Authors: Forman Evan M. , Butryn Meghan L.
Published: September 2016

This chapter describes the first treatment session. Topics covered include introduction of clients; treatment overview; group norms; policies and procedures; setting weight, calorie, and activity goals; cutting back on high-calorie foods; and weekly homework (Skill Builders).
Session 17: Maintaining Losses Over the Long Term
Authors: Forman Evan M. , Butryn Meghan L.
Published: September 2016

This chapter (Session 17) provides strategies on how to maintain weight losses over the long term, including continuing to eat a low-calorie, low-fat diet, eating regular meals, and engaging in regular physical activity. Clients are encouraged to consider how the psychological strategies they have learned thus far can assist them in maintaining weight control behaviors in the long term.
Session 20: Overeating and Emotional Eating
Authors: Forman Evan M. , Butryn Meghan L.
Published: September 2016

In this chapter (Session 20), strategies for preventing overeating episodes are presented, such as engineering the environment, using portion control, and eating regularly. In addition, the problem of emotional eating is introduced and strategies for coping with emotional eating are presented, including gaining awareness of emotional eating and working to break the habit of eating in response to emotion.
Session 7: Willingness (Part 2) and Values
Authors: Forman Evan M. , Butryn Meghan L.
Published: September 2016

This chapter (Session 7) presents additional information on willingness in the context of weight control and includes an exercise to help clients practice willingness by engaging in a behavior even when the client is simultaneously thinking that he or she cannot engage in that behavior. This chapter also introduces the concept of values, which are the most important ideas, principles, and domains in one’s life and which drive behavior. Various valued domains are discussed, and clients are asked to begin to identify their personal values.
Session 11: Friends and Family
Authors: Forman Evan M. , Butryn Meghan L.
Published: September 2016

This chapter (Session 11) discusses methods of gaining social support for weight control goals by asking for support from others, being specific and assertive about one’s needs, and being willing to have potentially difficult conversations. Strategies for overcoming social cues that are problematic to weight control are also presented, such as avoiding or changing the problematic cue or responding in a healthier way.
Session 12: Introduction to Defusion and Urge Surfing
Authors: Forman Evan M. , Butryn Meghan L.
Published: September 2016

This chapter presents Session 12. The focus of this session is defusion (a psychological skill to gain distance from one’s internal experiences, such as thoughts and emotions, in order to view them as momentary experiences rather than absolute truths) and urge surfing (“riding the wave” of uncomfortable thoughts, feelings, and urges by noticing and monitoring the negative internal state without giving in to the urge to engage in unhealthy behavior) as strategies to promote acceptance and facilitate healthy weight control behaviors.
Session 15: Mindless Eating (Part 2) and Mindful Decision-Making
Authors: Forman Evan M. , Butryn Meghan L.
Published: September 2016

This chapter (Session 15) discusses the dangers of mindless eating, which include a lack of awareness of the amount of food being consumed and a lack of conscious decision-making. The difference between mindless and mindful eating decisions is emphasized, and strategies to maximize mindful, deliberate decision-making are presented, such as the slowing down and interrupting of automatic decision-making processes and using up or down values voting.
Common Clinical Issues
Authors: Young Jami F. , Mufson Laura , Schueler Christie M.
Published: September 2016

This chapter addresses common clinical issues that Interpersonal Psychotherapy–Adolescent Skills Training (IPT-AST) group leaders have encountered. These issues include absences, engaging reluctant adolescents in group activities, difficult or defiant adolescents, breaches to confidentiality, challenging family situations, sensitive topics, and crises, including disclosures of suicidal thoughts and suspected abuse. The chapter discusses ways that the authors have addressed these common clinical situations in IPT-AST groups. Examples for addressing these situations are provided.
Review of Empirical Evidence for IPT-AST
Authors: Young Jami F. , Mufson Laura , Schueler Christie M.
Published: September 2016

This chapter provides an overview of the past decade of research on Interpersonal Psychotherapy–Adolescent Skills Training (IPT-AST). Studies on the efficacy of IPT-AST for the prevention of depression in adolescents are discussed to provide a summary of the empirical evidence for IPT-AST available to date. Current and future directions for research on IPT-AST are outlined. Adaptations of IPT-AST for other populations are briefly described. Research to date suggests that IPT-AST may be effective for these populations.
Difficult Situations and Special Circumstances
Authors: Markowitz John C.
Published: September 2016

This short eleventh chapter addresses problems that may arise in the course of treatment and therapist contingencies in responding to them. Topics include suicidality, dangerousness, violence, comorbidity, paranoid patients, revictimization, and patient discomfort in sessions. The question of abuse by a previous therapist receives discussion, as does the offer of telephone contacts by the therapist.
Principles of evolutionary theory, evolutionary psychopathology, and genetics
Authors: Brüne Martin
Published: September 2016

Darwin’s work on evolution by natural and sexual selection is the central scientific framework in biology that explains how life developed through adaptation to changing environments. Evolution has been the driving force that has shaped the human brain and mind in the same way as it has formed somatic traits. Many adaptations pertaining to human cognition, emotions, and behaviour emerged in ancestral environments of evolutionary adaptedness, from which modern living conditions deviate in one way or another. Such ‘mismatches’ of evolved traits and current environments may cause vulnerability to dysfunctional operation of cognitive, emotional, and behavioural traits. Genes and environment interact in manifold ways, yet genetic plasticity may not only convey vulnerability to dysfunction. Instead, the very same genetic variants that may lead to dysfunction when associated with environmental adversity exert protective effects against dysfunction when environments are more favourable. These insights have yet to be acknowledged by psychiatry and psychosomatic medicine.