bluuebunny/crossref_metadata_2025 huggingface dataset:
A robust measurement point for dose verification in delivery quality assurance for a robotic radiosurgery system
Authors: Kurosu Keita , Sumida Iori , Shiomi Hiroya , Mizuno Hirokazu , Yamaguchi Hiroko , Okubo Hirofumi , Tamari Keisuke , Seo Yuji , Suzuki Osamu , Ota Seiichi , Inoue Shinichi , Ogawa Kazuhiko
Published: September 2016

In this CyberKnife® dose verification study, we investigated the effectiveness of the novel potential error (PE) concept when applied to the determination of a robust measurement point for targeting errors. PE was calculated by dividing the differences between the maximum increases and decreases in dose distributions by the original distribution after obtaining the former by shifting the source-to-axis and off-axis distances of each beam by ±1.0 mm. Thus, PE values and measurement point dose heterogeneity were analyzed in 48 patients who underwent CyberKnife radiotherapy. Sixteen patients who received isocentric dose delivery were set as the control group, whereas 32 who received non-isocentric dose delivery were divided into two groups of smaller PE (SPE) and larger PE (LPE) by using their median PE value. The mean dose differences (± standard deviations) were 1.0 ± 0.9%, 0.5 ± 1.4% and 4.1 ± 2.8% in the control, SPE and LPE groups, respectively. We observed significant correlations of the dose difference with the PE value (r = 0.582, P < 0.001) and dose heterogeneity (r = 0.471, P < 0.001). We concluded that when determining a robust measurement point for CyberKnife point dose verification, PE evaluation was more effective than the conventional dose heterogeneity-based method that introduced optimal measurement point dose heterogeneity of <10% across the detector.
Transcranial Magnetic Stimulation Treatment of Posttraumatic Stress Disorder
Authors: Clark Caroline , Cole Jeffrey , Winter Christine , Grammer Geoffrey
Published: September 2016

Symptoms of post-traumatic stress disorder (PTSD) often fail to resolve with psychotherapy, pharmacotherapy, or integrative medicine treatments. Given these limitations, there is a continued push to discover treatment methods utilizing novel mechanisms of action. Transcranial magnetic stimulation (TMS) offers a non-invasive and safe method of brain stimulation that modulates neuronal activity in a focal area to achieve excitation or inhibition, and may have utility for patients suffering from PTSD, although, to date, evidence of efficacy is limited. The TMS treatment can be varied to suit the needs of the patient by altering the selection of the specific treatment parameters, such as pulse frequency or stimulation intensity. The weight of evidence to date supports treatment of either the right dorsolateral prefrontal cortex or the medical prefrontal cortex. Coupling treatment with script based exposure therapies may also assist with potentiation of the extinction response. Ultimately, stimulation parameters may be related to secondary downstream effects, and thus current targets may indirectly reverse the underlying neuronal pathophysiology. Given that PTSD is a complex illness with a poorly understood pathophysiology, it often exists with other psychiatric comorbidities or TBI. As such, TMS could be an effective part of a comprehensive treatment program.
Virtual Reality Exposure Therapy for PTSD
Authors: Roy Michael J. , Rizzo Albert , Difede JoAnn , Rothbaum Barbara O.
Published: September 2016

Expert treatment guidelines and consensus statements identified imaginal exposure therapy as a first-line treatment for posttraumatic stress disorder (PTSD) more than a decade ago. Subsequently, an Institute of Medicine report concluded that cognitive–behavioral therapy with exposure therapy is the only therapy with sufficient evidence to recommend it for PTSD. Imaginal exposure has been the most widely used exposure approach. It requires patients to recall and narrate their traumatic experience repeatedly, in progressively greater detail, both to facilitate the therapeutic processing of related emotions and to decondition the learning cycle of the disorder via a habituation–extinction process. Prolonged exposure, one of the best-evidenced forms of exposure therapy, incorporates psychoeducation, controlled breathing techniques, in vivo exposure, prolonged imaginal exposure to traumatic memories, and processing of traumatic material, typically for 9 to 12 therapy sessions of about 90 minutes each. However, avoidance of reminders of the trauma is a defining feature of PTSD, so it is not surprising that many patients are unwilling or unable to visualize effectively and recount traumatic events repeatedly. Some studies of imaginal exposure have reported 30% to 50% dropout rates before completion of treatment. Adding to the challenge, some patients have an aversion to “traditional” psychotherapy as well as to pharmacotherapy, and may find alternative approaches more appealing. Younger individuals in particular may be attracted to virtual reality-based therapies.
Early Imaging for Back Pain in Older Adults
Authors: Lee Christoph I.
Published: September 2016

This chapter, found in the back pain section of the book, provides a succinct synopsis of a key study examining the use of early imaging for back pain in older adults. This summary outlines the study methodology and design, major results, limitations and criticisms, related studies and additional information, and clinical implications. The study showed that early imaging for new onset back pain among older adults presenting to primary care was not associated with improved patient-reported outcomes at 1-year follow-up. However, patients undergoing such early imaging had substantially higher resource use and reimbursement expenditures than those not undergoing early imaging. In addition to outlining the most salient features of the study, a clinical vignette and imaging example are included in order to provide relevant clinical context.
CT Angiography versus V/Q Scans to Rule Out Pulmonary Embolism
Authors: Lee Christoph I.
Published: September 2016

This chapter, found in the chest pain section of the book, provides a succinct synopsis of a key study comparing the use of computed tomography angiography (CTA) and ventilation-perfusion (V-Q) scans for ruling out pulmonary embolism. This summary outlines the study methodology and design, major results, limitations and criticisms, related studies and additional information, and clinical implications. The researchers report that a strategy to rule out pulmonary embolism and anticoagulation therapy using the methods in the study resulted in low, similar rates of venous thromboembolic events at 3 months follow-up; however, more patients were diagnosed with pulmonary embolism in the CTA arm of the study. In addition to outlining the most salient features of the study, a clinical vignette and imaging example are included in order to provide relevant clinical context.
3D CT Colonography for Colorectal Cancer Screening
Authors: Lee Christoph I.
Published: September 2016

This chapter, found in the cancer screening and management section of the book, provides a succinct synopsis of a key study examining the efficacy of 3D computed tomography colonography for colorectal cancer screening. This summary outlines the study methodology and design, major results, limitations and criticisms, related studies and additional information, and clinical implications. In addition to outlining the most salient features of the study, a clinical vignette and imaging example are included in order to provide relevant clinical context.
Low-Dose Ionizing Radiation from Medical Imaging
Authors: Lee Christoph I.
Published: September 2016

This chapter, found in the radiation exposure from medical imaging section of the book, provides a succinct synopsis of a key study examining low-dose ionizing radiation exposure and radiation-induced cancer risks. This summary outlines the study methodology and design, major results, limitations and criticisms, related studies and additional information, and clinical implications. The study reported that a substantial proportion of the nonelderly US population is exposed to medium to very high annual effective doses from medical imaging procedures. Strategies ensuring the appropriate use of medical imaging associated with ionizing radiation should be developed and adopted widely. In addition to outlining the most salient features of the study, a clinical vignette is included in order to provide relevant clinical context.
Pharmacokinetic and pharmacodynamic principles of antimicrobials
Authors: Osbert Cotta Menino , Roberts Jason
Published: September 2016

The continual threat of antimicrobial resistance means that optimizing current antimicrobial therapy is of paramount importance. Antimicrobial pharmacokinetics and pharmacodynamics (PK/PD) play a central role in developing dosing regimens that target maximal clinical outcomes and microbiological eradication. This chapter describes the three main PK/PD indices into which current antimicrobials are categorized. Elements of PK that require due consideration when optimizing antimicrobial therapy, including volume of distribution, antimicrobial clearance, and protein binding, are also discussed. Finally, specific attention is paid to antimicrobial dosing among challenging populations, namely the critically ill and obese, and the potential role of alternative dosing strategies, such as use of loading doses and extended/continuous infusions, is also outlined.
Antimicrobial stewardship in the intensive care setting
Authors: Ball Jonathan
Published: September 2016

Intensive care units (ICUs) care for patients with life-threatening infections and thus harbour reservoirs of pathogenic microorganisms. Furthermore, as a direct consequence of their critical illness/injury, ICU patients commonly have a significant degree of acutely acquired, innate, and adaptive immune system dysfunction. Critically ill patients therefore present unique challenges for antibiotic stewardship. Antibiotic stewardship in ICUs should address both the timely delivery of effective empiric therapy and the minimization of the use of broad-spectrum agents. Solutions to these challenges are usually adaptations of general principles rather than novel interventions. In ICUs, as elsewhere, antibiotic stewardship should be viewed as a key component of the overall infection control strategy.
Stewardship in the primary care and long-term care settings
Authors: Fleming Naomi
Published: September 2016

This chapter focuses on stewardship in the primary care and long-term care settings. Antibiotic prescribing in the community accounts for 80% total antibiotic prescribing and approximately 75% of this is for acute respiratory tract infections, many of which are viral. There is also significant variation in prescribing practices that is not explained by differences in presenting patients. These factors suggest that antimicrobial stewardship programmes are necessary. This chapter identifies the components of stewardship that have been successful in influencing antibiotic prescribing in primary care and shares local experiences with practical examples. The lack of UK evidence about antimicrobial stewardship in long-term care facilities is discussed, along with successful interventions from overseas. Challenges within these settings are highlighted, including patient demand, lack of access to microbiological and diagnostic tools, competing targets, time pressures, and clinical uncertainty.
Antimicrobial stewardship in a resource-poor setting
Authors: Mendelson Marc
Published: September 2016

Low- and middle-income countries (LMICs) face a high burden of infection and, commonly, colliding epidemics of HIV, malaria, tuberculosis, and other bacterial diseases. The resulting high usage of antimicrobials, inappropriate prescribing, and use of falsified or counterfeit medicines drives antimicrobial resistance. Stewardship programmes need to be developed within the social and cultural norms of the country, and take cognizance of competing health needs, which may prove important barriers. A situational analysis of the country’s resources and challenges with respect to antimicrobial resistance and the need for regional and international collaboration to effect change are important first steps to establishing a programme. Identifying, developing, and unifying stewardship champions aids in the translation of policy into practice. Leadership at the highest level is required in partnership with national government. While resource limitations are a significant barrier to stewardship programmes, concentrating on low-hanging fruit allows LMICs to develop meaningful programmes to combat antimicrobial resistance.
Insulin treatment and pancreas transplantation
Authors: Levy David
Published: September 2016

The physiology of insulin replacement therapy and the consequences of non-physiological treatment on carbohydrate and fat metabolism are reviewed. Historical aspects of long-acting and short-acting insulins are outlined, and current and future insulin preparations are described, including inhaled insulin. Implementation and refinement of the standard injected multiple dose insulin (MDI) regimen are described in detail. The current status of islet-cell and whole pancreas transplantation, their indications and impact on diabetes complications is reviewed.
Community treatment order legislation in the Commonwealth
Authors: Dawson John
Published: September 2016

This chapter provides an overview of legislation governing the use of community treatment orders (CTOs)—that authorize compulsory outpatient treatment—in the UK, Canada, Australia, and New Zealand. It focuses particularly on the cluster of powers that CTOs confer on community mental health teams, permitting them to continue supervising a person’s outpatient care. It covers the criteria, procedures, and structure of authority for a CTO, the conditions such an order can impose on a person’s community care, the role of statutory treatment plans, and the powers available to enforce the outpatient treatment regime, especially the power of recall to hospital—analysing and comparing the subtly different regimes enacted in these Commonwealth nations that share a common law tradition.
Clinician attitudes, experiences, and use of coercion
Authors: Angell Beth
Published: September 2016

This chapter focuses on the people who provide clinical care and support in the community, including doctors, nurses, social workers, support workers, and psychologists who may be employed by the local health or social care authority, voluntary organizations, or private healthcare providers or occupational schemes. This chapter considers the evidence available from large-scale surveys in several countries of the opinions of mental health-care professionals about community coercion and their experiences of its use. Differences between different staff groups will be identified and conclusions drawn about what can or should be learnt from this. The often markedly similar staff attitudes will be described and the potential implications of this for practice outlined. Where formal powers to compel exist, their use varies both between and within jurisdictions and it is generally believed that staff attitudes are a key factor in this.
Coercion in community mental health treatment in the Americas
Authors: O’Reilly Richard , Gray John
Published: September 2016

This chapter explores the use of coercion, both legislated and informal, in community mental health services in North America, South America, and the Caribbean. Greater detail is provided for the United States and Canada as there has been more research on formal coercion in these jurisdictions, particularly on the use of outpatient commitment (OPC) and community treatment orders (CTOs). Mexico, Brazil, and Argentina are used as examples of the situation in Latin America and Jamaica as an example from the Caribbean. The chapter discusses whether formal coercive approaches are more respecting of rights than the use of informal coercion. It also compares the types of legislative regimes used in North America.
Coercion in Europe
Authors: Fioritti Angelo , Marcacci Thomas
Published: September 2016

Modern psychiatry developed in Europe with Pinel in the Enlightenment: the concept of human rights was first conceived and the first laws to protect citizens’ rights in psychiatry were introduced. However, Europe is also where some of the worst violations of human rights in psychiatry have taken place. Europe has developed several international institutions such as the European Union and the European Court of Human Rights. Their covenants, along with those from the United Nations, have repeatedly attempted to address the issue of freedom and coercion in medicine and in psychiatry. The World Health Organization Regional Office for Europe has paid extensive attention to coercion and human rights in psychiatry. Europe has a long history and tradition of mental health care and there are significant variations between countries in its delivery and legislation. This chapter outlines some key historical events and attitudes regarding coercion in European society ,with particular attention being paid to coercion in the community.
Pediatric Ethics
Authors: Fleischman Alan R.
Published: September 2016

This book examines the many ethical issues related to health and healthcare in children. It describes the field of pediatric ethics, a unique and important aspect of the discipline of bioethics, the study of moral conduct in healthcare and the rational process for determining the best course of action in the face of conflicting choices. The book begins with an exploration of what it means to be a child in America and the unique kinship relationships and obligations engendered by the decision of parents to have a child, and it examines ethical principles and professional obligations related to the care of children. Each of the chapters in the book focuses on important ethical concerns. It begins with ethical issues in creating babies using reproductive technologies, and then continues with an analysis of the ethical issues in labor and delivery of a child. The book continues with an in-depth analysis of the many hard choices faced by families and clinicians in the care of critically ill neonates, and then it goes on to describe current controversies in caring for older children who are dying and their families, as well as ethical issues concerning adolescents; research ethics as it relates to children; issues concerning genetic testing, screening and biobanking; and surgical and medical enhancement of children. Each chapter has case examples to illustrate the real-life concerns of patients, families, and clinicians. The book is intended for students in pediatrics and ethics, as well as for practicing clinicians, and interested families.
Ethical Issues in Giving Birth to a Baby
Authors: Fleischman Alan R.
Published: September 2016

This chapter defines term and preterm delivery and explores the ethical concerns in delivery at the threshold viability. It examines the medical and ethical issues associated with elective delivery prior to 39 weeks gestation, do-not-resuscitate orders in the delivery room, and maternal illness and illicit behavior that jeopardize the fetus before birth. The beneficence-based moral obligations of practitioners working in the fields of obstetrics, neonatology and pediatrics are discussed, as well as the beneficence-based moral obligations of pregnant women. Additionally the knotty ethical problems of DNR decisions in the delivery room and the equally difficult decision-making that needs to take place in the event that the mother is declared brain dead are both covered in the chapter.
Ethical Issues in Research Involving Children
Authors: Fleischman Alan R.
Published: September 2016

This chapter examines the ethical distinctions between research and clinical practice and provides a brief history of the ethical concerns in research involving children beginning in the 18th century and continuing to the present day. It describes the role of the Nazi experiments during World War II in the creation of the Nuremberg Code, and the role of the Tuskegee and Willowbrook experiments in the creation of the National Commission for the Protection of the Subjects of Research. The recommendations of the Code and the Commission that resulted subsequently in federal regulations are discussed. The regulations that govern research are outlined with an emphasis on the subpart that refers specifically to children. The various levels of risk in research are discussed and the four permissible criteria for research involving children are examined. The need for parental permission and child assent are explored and special populations in research involving children are discussed.
Alcohol and Older Adults
Authors: LaRose Anna Terajewicz , Renner John
Published: September 2016

This chapter reviews the prevalence, health risks, and treatment of alcohol use in older adults. We consider epidemiological data showing that a significant proportion of older adults who use alcohol exhibit harmful drinking behavior. We explore the recommendations for alcohol use and definitions of unhealthy use, the neurobiology of alcohol addiction, cognitive effects of alcohol use, and medical sequelae of chronic alcohol use. We identify biomarkers, effective screening tools, and brief interventions for hazardous and harmful alcohol use in older adults. Possible benefits for light alcohol use, as well as risks and medical complications of alcohol use among older adults, are considered. Finally, we review the medical treatment of intoxication and alcohol-use disorders in this population, with an emphasis on the need for evidence-based research to guide clinical practices in identifying harmful levels of use and developing treatment strategies for older patients with alcohol use disorders.
Abuse of Opioids and Prescription Medications
Authors: Burgos-Chapman Isis , Trevisan Louis A. , Sevarino Kevin
Published: September 2016

This chapter reviews an under-recognized aspect of geriatrics. The elderly population is growing in number, as is the proportion of aging baby-boomers at high risk for pain medication misuse and opioid use disorders. Given the widespread use of opioids in pain management, one can expect that problems with opioid use will increase among the elderly in the coming years. We describe the magnitude of the problem and discuss the importance of risk-stratification to identify which older patients are at elevated risk to develop problems with opioids. We examine the role of opioids in chronic pain treatment and the pitfalls of their use in the elderly. Finally, we provide general guidelines for the treatment of pain medication misuse and/or an opioid use disorder in the elderly. Opioid medication misuse and use disorders should be on every practitioner’s radar as a possible reason for problems surfacing in the elderly patient.
Sex Differences in Late-Life Substance-Use Disorders
Authors: Evans Elizabeth , Sullivan Maria A.
Published: September 2016

Older women may be particularly vulnerable to substance abuse with their increased exposure to prescription drugs and a tendency to develop addiction and medical consequences of substance use more quickly than their male counterparts. Substance use in older women, however, often goes undetected and untreated by clinicians. It is, therefore, important to screen older women regularly for alcohol and prescription drug use and abuse, to ask screening questions in a non-judgemental manner, to be sensitive to potential slower processing times, and to utilize collateral information from family/caregivers when possible. We review the epidemiology of substances of abuse; discuss risk factors, comorbidities, illness course, and treatment; and focus on how these factors differ between women and men. The aim of this chapter is to help clinicians better identify substance abuse in older women, as well as to plan, tailor, and implement effective treatment interventions for this most vulnerable population.
Renal diseases and emergencies
Authors: Davenport Dr Andrew
Published: September 2016

Chapter 11 discusses diseases and emergencies involving renal medicine, including investigation of the renal tract, acute kidney injury (AKI), haematuria and proteinuria, urinary tract infection (UTI), urinary tract obstruction, tumours of the renal tract, chronic kidney disease (CKD), and renal transplant patients.
Haematological emergencies
Authors: McNamara Dr Christopher
Published: September 2016

Chapter 15 discusses haematological emergencies, including a general introduction to the subject, followed by information on acute leukaemias, haemolytic anaemias, plasma cell myeloma, haemostasis and transfusion-related emergencies, acute thrombosis, obstetric issues, acute problems in bone marrow transplant patients, chemotherapy-related complications, approach to the patient with peripheral blood cytopenias, and the haemoglobinopathies and acute presentations.
Obstetric emergencies
Authors: Nelson-Piercy Professor Catherine , Dhanjal Miss Mandish K , Leach Dr Richard
Published: September 2016

Chapter 21 discusses obstetric emergencies and medical emergencies in pregnancy.
Lifestyle modification
Authors: Aditya Dr Bhandari Sumer , Wilding Professor John PH , Khan Dr Burhan , Leach Dr Richard
Published: September 2016

Chapter 3 covers lifestyle modification information, including healthy nutrition, obesity, and smoking cessation.
Infectious diseases and emergencies
Authors: Price Dr Nicholas , Klein Dr John L
Published: September 2016

Chapter 6 covers infectious diseases and emergencies, including clinical features, history, and examination, the febrile patient with skin lesions or rash, hospital-acquired (nosocomial), infections, classic viral exanthems and mumps, ‘mononucleosis’ syndromes, fungal infections, fever in the returning traveller, fever of unknown origin (FUO), principles and practice of antibiotic use, public health aspects of infectious disease, malaria, meningococcal disease, infections in pregnancy, vascular access device-associated infection, and toxic shock syndrome.
Gastroenterology and hepatology
Authors: Moore Professor Kevin , Harbord Dr Marcus , Marks Dr Daniel
Published: September 2016

Chapter 8 discusses gastroenterology and hepatology as it relates to acute medicine, including presentation, examination, and investigations, acute upper GI bleeding, acute gastroenteritis, jaundice, complications of cirrhosis, acute liver failure, infections and the liver, complications in liver transplant recipients, pregnancy and the liver, inflammatory bowel disease, acute pancreatitis, and malnutrition and chronic gastrointestinal disease.
Interpreting defiant behavior in children: Constructs, norms, and intersectionalities
Authors: Potter Nancy Nyquist
Published: September 2016

The primary argument of this chapter is that children’s and youth’s defiance may be misread and misinterpreted unless a greater understanding of the interplay of genders, races, and ethnicities is grasped. It analyzes various types of aggression to illustrate that the norms that determine harms from aggressive behavior need to be articulated and critiqued. The chapter sets out central characteristics of Oppositional Defiant Disorder (ODD) and Conduct Disorder (CD), then analyzes the larger context for understanding defiant behavior. Research on features of aggression in children’s play is included, and this leads to an analysis of how to understand the harms of aggression. The author also examines the matrix of raced, gendered, and classed intersections in the interpretation and reproduction of norms for behavior. This analysis of the construct of aggression makes it more difficult to interpret certain behavior as maladaptive defiant traits.The chapter ends with considerations as to why children (and adults) might have reasons for being defiant.
Galactosemia
Authors: Bosch Annet M. , Murphy Elaine
Published: September 2016

There are three known inherited disorders of galactose metabolism: classic galactosemia (galactose-1-phosphate uridyltransferase deficiency), galactokinase deficiency, and uridine diphosphate galactose 4-epimerase deficiency. Classic galactosemia presents in the newborn period with liver and renal impairment and failure to thrive. Acute symptoms resolve when lactose is excluded from the diet, but long-term complications are frequent and include neurocognitive and social difficulties, speech and language problems, motor problems, and premature ovarian insufficiency. Patients with galactokinase deficiency develop cataracts, while the clinical spectrum of uridine diphosphate galactose 4-epimerase deficiency is broad, from a benign condition to a severe disorder similar to classic galactosemia. All are autosomal recessive conditions. Diagnosis is by measurement of enzyme activity in erythrocytes, confirmed by mutation analysis of the specific genes, GALT, GALK, or GALE.
Glut1 Deficiency
Authors: Klepper Joerg , Leiendecker Baerbel
Published: September 2016

Glut1 Deficiency (Glut1D, OMIM #606777) is caused by impaired glucose transport into the brain. The resulting cerebral “energy crisis” causes intractable seizures, developmental delay, and a complex movement disorder. The diagnosis is based on clinical features, low CSF glucose and/or mutations in the SLC2A1 gene. Paroxysmal exertion-induced dystonia (PED) and hereditary cryohydrocytosis have been described as allelic variants. Adults are increasingly being recognized through family pedigrees. The condition is effectively treatable by mimicking the metabolic state of fasting. High-fat carbohydrate-restricted ketogenic diets generate ketones that serve as an alternative fuel for the brain. In adults with Glut1D, novel modified ketogenic diets can be used, allowing more carbohydrates and greater palatability and compliance.
Fatty Acid Oxidation, Electron Transfer and Riboflavin Metabolism Defects
Authors: Murphy Elaine , Nadjar Yann , Vianey-Saban Christine
Published: September 2016

The fatty acid oxidation disorders are a group of autosomally recessively inherited disorders of energy metabolism that may present with life-threatening hypoketotic hypoglycemia, encephalopathy and hepatic dysfunction, muscle symptoms, and/or cardiomyopathy. Milder phenotypes may present in adulthood, causing exercise intolerance, episodic rhabdomyolysis, and neuropathy. Specific investigations include acylcarnitine profiling, urine organic acid analysis, fibroblast or leucocyte studies of fatty acid oxidation flux/enzyme activity, and genetic testing. Management varies depending on the condition but includes avoidance of precipitants such as fasting, fever, and intense exercise, a high-carbohydrate, low-fat diet, and supplementation with carnitine or riboflavin. Inborn errors of riboflavin transport mainly present with Brown-Vialetto-Van Laere syndrome. Some patients respond dramatically to riboflavin supplementation; therefore it has to be tried in all suspected patients.
Lysinuric Protein Intolerance and Hartnup Disease
Authors: Sebastio Gianfranco , Schiff Manuel , de Baulny Hélène Ogier
Published: September 2016

Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney. LPI is caused by mutations in the SLC7A7 gene, which encodes the y+LAT-1 protein, the catalytic light chain subunit of a complex belonging to the heterodimeric amino acid transporter family. Symptoms usually begin after weaning with refusal of feeding, vomiting, and consequent failure to thrive. Hepatosplenomegaly, hematological anomalies, and neurological involvement including hyperammonemic coma will progressively appear. Lung involvement (specifically pulmonary alveolar proteinosis), chronic renal disease that may lead to end stage renal disease, and hemophagocytic lymphohistiocytosis with macrophage activation all represent complications of LPI that may appear at any time from childhood to adulthood. The great variability of the clinical presentation frequently causes misdiagnosis or delayed diagnosis. The basic therapy of LPI consist of a low-protein diet, low-dose citrulline supplementation, nitrogen-scavenging compounds to prevent hyperammonemia, lysine, and carnitine supplements.
Biogenic Monoamine Disorders
Authors: Roze Emmanuel , Blau Nenad
Published: September 2016

Biogenic monoamine disorders are a group of inherited diseases characterized by a defect in the synthesis, transport, or degradation of catecholamines and serotonin. The phenotype mostly reflects the pattern and severity of the monoamine deficiency. Movement disorders due to cerebral dopamine deficiency are almost always prominent, mostly in the form of dystonia and/or parkinsonism. These disorders are potentially devastating yet treatable. Early diagnosis and treatment are crucial to prevent ongoing brain dysfunction. Detection of hyperphenylalaninemia in a neonate could be a good clue to the diagnosis. Final diagnosis is often based on a detailed biochemical investigation of the cerebrospinal fluid and can be confirmed by molecular analysis. Treatment is aimed at restoring neurotransmitter homeostasis using monoamine precursors, monoamine agonists, and inhibitors of monoamine degradation. It also comprises the control of hyperphenylalaninemia and the prevention of cerebral folate deficiency, when applicable.
Monogenic Chylomicronemia: Deficiency of Lipoprotein Lipase and Related Factors
Authors: Brahm Amanda J. , Hegele Robert A.
Published: September 2016

Monogenic chylomicronemia is an autosomal recessive condition characterized by severely elevated fasting triglyceride that carries lifelong elevated risk of developing pancreatitis. The majority of cases are caused by mutations in the LPL gene encoding lipoprotein lipase, the enzyme primarily responsible for chylomicron clearance. Mutations in genes encoding associated proteins (APOC2, APOA5, GPIHBP1 and LMF1) may also present with a very similar phenotype. Current management, which includes restriction of dietary fat intake and standard pharmacologic interventions, has met with limited success, but new therapies under development may prove to be more effective.
Disorders of Manganese Metabolism
Authors: Tuschl Karin , Clayton Peter T. , Mills Philippa B.
Published: September 2016

Manganese is an essential trace metal for numerous metalloenzymes. Manganese homeostasis requires tight regulation in vivo and disruption of this balance can lead to manganese overload and subsequent accumulation of manganese in brain, liver, and blood. Mutations in SLC30A10, a cell surface-localized manganese efflux transporter, cause an autosomal recessive hypermanganesemia syndrome with two distinct phenotypes: childhood onset dystonia and adult onset Parkinsonism, associated with chronic liver disease, polycythemia and features of iron depletion. MRI brain appearances are characteristic of Mn deposition with hyperintense basal ganglia on T1-weighted images. Chelation therapy with disodium calcium edetate and iron supplementation effectively lower blood manganese levels, halt liver disease progression and improve neurological symptoms.

The inherited form of hypermanganesemia can be distinguished from acquired causes of manganese overload including environmental overexposure and acquired hepatocerebral degeneration in cases of end stage liver disease.
Gaucher Disease
Authors: Hollak Carla E.M.
Published: September 2016

Gaucher disease is frequently diagnosed in adulthood and may manifest at any age. Chronic neuronopathic forms are rarely seen but may come to the attention of the adult physician. Nonneuronopathic or type 1 disease is extremely variable. Main symptoms are cytopenia, hepatosplenomegaly and bone disease. The majority of patients diagnosed in adulthood present with thrombocytopenia and splenomegaly. In moderate to severe disease, treatment with intravenous enzyme replacement is highly effective. Substrate reduction therapy with miglustat or eliglustat is an oral alternative for some. Awareness of a number of severe complications and associated conditions, including irreversible bone disease, rare cancers and Parkinson's disease, is of importance.
Neurological and Psychiatric Symptoms
Authors: Sedel Frédéric , Nadjar Yann
Published: September 2016

Late-onset forms of inborn errors of metabolism (IEM) first presenting in adulthood often display psychiatric or neurological manifestations, including atypical psychosis or depression, unexplained coma, peripheral neuropathy, cerebellar ataxia, spastic paraparesis, dementia, movement disorders, or epilepsy. With the exception of several review articles, most if not all existing books and diagnostic algorithms refer to pediatric forms of these diseases. Late-onset forms of IEM always display attenuated phenotypes, which in some instances are associated with one or more clinical manifestations that differ from the classic clinical picture described in children. Although the limited information available about adult forms of IEM makes the specialty new and quite exploratory, the diagnostic approach in adults is facilitated by the fact that the nervous system is already mature. Therefore, clinical presentations are more homogeneous than in children, in whom clinical signs usually differ depending on their stage of maturation.
Approach to the Patient with Respiratory Signs and Symptoms
Authors: Hollak Carla E. M.
Published: September 2016

The respiratory system is frequently involved in inborn errors of metabolism, either primarily or secondary to severe systemic disease. In disorders with progressive neurological disease, recurrent chest infections are a result of aspiration. Patients with cachexia and muscle weakness can develop breathing difficulties. Metabolic acidosis causes tachypnea. These secondary problems, occurring in the context of a multisystem disease with prominent other features, are well covered elsewhere and are not discussed in this chapter. The focus of the current chapter is the adult patient who presents with respiratory symptoms or signs as a first manifestation of an inborn error of metabolism. In addition, disorders where respiratory problems are a major part of the adult disease spectrum are listed.
Hematological Abnormalities
Authors: Hollak Carla E. M.
Published: September 2016

The respiratory system is frequently involved in inborn errors of metabolism, either primarily or secondary to severe systemic disease. In disorders with progressive neurological disease, recurrent chest infections are a result of aspiration. Patients with cachexia and muscle weakness can develop breathing difficulties. Metabolic acidosis causes tachypnea. These secondary problems, occurring in the context of a multisystem disease with prominent other features, are well covered elsewhere and are not discussed in this chapter. The focus of the current chapter is the adult patient who presents with respiratory symptoms or signs as a first manifestation of an inborn error of metabolism. In addition, disorders where respiratory problems are a major part of the adult disease spectrum are listed
Characteristics of Korean Master Group Counselors 1
Authors: Kwon Kyoung-In , Kim Chang-Dai
Published: September 2016

The purpose of this study was to explore and understand Korean master group counselors’ personal and professional characteristics and also factors that facilitate and hinder the developmental process. Through peer nomination and snowball sampling, five group counseling experts were nominated as the best group counselors in Korea. The interview data were analyzed based on the grounded theory approach. The major results of the analysis were summarized as 65 concepts, 28 subcategories, and 13 categories. The interview data were categorized through an open-coding process. Analysis of the relationship among the categories revealed the following nine main themes regarding master group counselors’ characteristics: reasons to choose group counseling, phenomenon of being immersed in group counseling, mentors, frustrations and coping, contributions of pain, deficiency and anxiety, strategies for growth, personal characteristics, and professional characteristics.
Session 19: Committed Action
Authors: Forman Evan M. , Butryn Meghan L.
Published: September 2016

This chapter presents Session 19, which is focused on the concept of committed action (maintaining behavior despite the ease or difficulty of the behavior) and strategies to engage in committed action, including an activity in which clients “stand and commit” to their desired weight control behaviors.
Effective Weight Loss
Authors: Forman Evan M. , Butryn Meghan L.
Published: September 2016

Millions of people attempt to lose weight every year, but most will not succeed. Simply learning about a new diet and exercise plan is not enough. This book presents 25 detailed sessions of an empirically supported, cognitive-behavioral treatment package called acceptance-based behavioral treatment (ABT) that has now been utilized successfully in five large National Institute of Health–sponsored clinical trials. The foundation of this approach is comprised of the nutritional, physical activity, and behavioral components of the most successful, gold-standard behavioral weight loss packages, such as Look Ahead and the Diabetes Prevention Project. These components are synthesized with acceptance, willingness, behavioral commitment, motivation, and relapse prevention strategies drawn from acceptance and commitment therapy, dialectical behavior therapy and relapse prevention therapy. ABT is premised on the idea that specialized self-control skills are necessary for weight control, given our innate desire to consume delicious foods and to conserve energy. These self-control skills revolve around a willingness to choose behaviors that may be perceived as uncomfortable for the sake of a more valuable objective. The treatment focuses on both weight loss and weight loss maintenance and aims to confer lifelong skills that facilitate long-term weight control. This companion Client Workbook contains summaries of session content, worksheets, handouts, and assignments.
Session 5: Control What You Can, Accept What You Can’t; The Home Food Environment
Authors: Forman Evan M. , Butryn Meghan L.
Published: September 2016

This chapter presents Session 5, which concerns helping clients separate the various aspects of weight control into those that are controllable, such as one’s personal food environment and one’s behaviors, and those that are not controllable, such as internal thoughts and feelings, urges and cravings, the general food environment, and options to avoid physical activity. Clients are presented with the underlying rationale of the program of learning to modify the controllable aspects of one’s environment and learning to accept those aspects that are not controllable. Changing the type of food available in one’s home environment is discussed as one controllable aspect of weight control for clients to begin to practice.
Importance of Depression Prevention
Authors: Young Jami F. , Mufson Laura , Schueler Christie M.
Published: September 2016

This chapter discusses the development of an interpersonally oriented depression prevention program for adolescents, Interpersonal Psychotherapy–Adolescent Skills Training (IPT-AST). Depression is a common and debilitating illness that rises in prevalence during the teenage years. Adolescence is therefore an opportune time to provide preventive interventions to reduce the burden of depression. IPT-AST is an adaptation of interpersonal psychotherapy, an empirically supported treatment for adult and adolescent depression. The program targets interpersonal risk and protective factors that have been linked to depression in adolescence. IPT-AST is an appropriate program for adolescents with different levels of risk for depression and can be implemented in diverse settings, such as schools, primary care offices, afterschool programs, and community organizations.
Interpersonal Psychotherapy for Posttraumatic Stress Disorder
Authors: Markowitz John C.
Published: September 2016

Posttraumatic stress disorder (PTSD) is a prevalent, debilitating public health problem. It is a treatable condition, but the predominant approach to treatment has involved exposing patients to their worst fears, the reminders of their traumas. Many patients and therapists find this process unpleasant, and exposure-based treatment does not help everyone. We recently studied Interpersonal Psychotherapy (IPT), a non-exposure treatment that focuses on restoring the numbed emotions of patients with PTSD and helping patients use them to reconstruct a sense of safety in their environment. IPT focuses on patients’ feelings as helpful signals in current interpersonal encounters, not on reconstructing past traumatic events. IPT worked as well as Prolonged Exposure, the best-tested exposure-based treatment, in a randomized controlled trial for patients with chronic PTSD. Moreover, IPT had advantages for the half of patients who suffered both from PTSD and from major depression. This book describes for clinicians the use of IPT and its emotion- and attachment-based approach.
Portrait of the Master Therapist: Developmental Model of the Highly Functioning Self
Authors: Skovholt Thomas M. , Jennings Len , Mullenbach Mary
Published: September 2016

Skovholt, Jennings, and Mullenbach summarize and integrate data from all four qualitative studies and offer pathways to expertise taken by the ten master therapists, culminating with a portrait of the master therapist. The portrait includes central characteristics, paradoxical characteristics, eight overall themes, and a major expansion of the Cognitive, Emotional, and Relational (CER) Model of Master Therapists.
Autism spectrum disorder
Authors: Brüne Martin
Published: September 2016

Autism spectrum disorder (ASD) is characterized by social communication deficits, impaired social interaction, and restricted and stereotyped behaviours and interests. The typical onset is during early childhood. Behaviourally, people with ASD have difficulties in tolerating proximity. Insecure attachment is frequently observed. At the cognitive level, people with ASD have selective difficulties in mentalizing or ‘theory of mind’, possibly related to a dysfunctional mirror neuron system and alterations of the oxytocin system. Conversely, many with ASD (particularly those formerly diagnosed with Asperger’s syndrome) have superior technical skills. It has been hypothesized that the brains of individuals with ASD are skewed to maleness, possibly linked to genomic imprinting of paternal genes. The preservation of genes that predispose to ASD may have undergone sexual selection fostering ‘slow’ life-history strategies. None of the evolutionary hypotheses on ASD is conclusive so far, but open to empirical testing.
Depressive disorders
Authors: Brüne Martin
Published: September 2016

Depression is characterized by low mood, reduced affective responsiveness, lack of drive and initiative, and negative cognitive evaluation of circumstances and self. Delusional thinking may occur in severe cases. Behaviourally, depression reflects helplessness or appeasement that arise from feelings of inferiority, entrapment, or defeat. Non-verbal behaviour in depression resembles ancient strategies of vertebrates to signal submission. At the cognitive level, people with depression often engage in ruminating thoughts, often involving self-derogation or worthlessness. Depression may occur in situations when one’s social status is threatened or an actual fall in rank has taken place. This is often accompanied by a reduction of serotonin availability. Genes conferring risk for depression when coupled with adverse early experiences may even protect against depression when associated with supportive parenting, suggesting genetic plasticity. Aside from ethological considerations, depression may also be linked to a dysfunction of the immune system.