bluuebunny/crossref_metadata_2025 huggingface dataset:
Communication between health care professions
Authors: Cooper John E. , Sartorius Norman
Published: February 2014

The first purpose of the classifications of mental disorders produced by psychiatrists has always been to summarize the current knowledge about mental disorders (and the links and limits between them) and to facilitate communication among psychiatrists about their recognition and management. The compilers of the classifications assumed that other professions involved in the care of the mentally ill (e.g. psychiatric nurses and general practitioners) would wish to use the same classification, and that the classifications would also be used for public health purposes. But these expectations were not fulfilled, in that different professional groups produced their own classifications of mental disorders. In addition, it soon became necessary to produce classifications for other purposes — for example the reimbursement of costs for care and the reports on the performance of health services. The consequence has been that a number of classifications have been produced and used, but often in forms that are not easily translatable into each other. As a result, communication and reporting about mental disorders and their treatment between health care professionals has often been of poor quality. The World Health Organization attempted to resolve this problem by issuing the ICD-10 Chapter V(F) in three versions — one for daily clinical work by psychiatrists, one for use by researchers, and one for use in primary health care. Care was taken to ensure that these three versions were easily translatable into each other. For a variety of reasons the use of these three classifications has not become universal, and the problem of ensuring cross-disciplinary communication and uniform reporting about mental health care continues to be a major challenge.
Understanding classification
Authors: Cooper John E. , Sartorius Norman
Published: February 2014

In ordinary daily language, to classify things means simply to place them into groups which have some obvious features in common. This produces useful lists which are of great practical use in everyday life. More formally, the process of classification is part of the discipline of taxonomy, which can be applied to any type of objects, so long as there is a systematic and preferably quantifiable body of knowledge about the objects. Agreement needs to be reached about standard names and descriptions for all objects to be classified, so that an agreed nomenclature, glossary of terms and definitions will allow the objects to be arranged in similar groups or taxons, and perhaps even into a series of levels to form a hierarchy. Two well-known, very useful but different classifications are briefly examined, first, the biological classification of animals and second, the periodic table of the elements, to see if any points emerge that might be useful in producing future classifications of mental disorders. It is concluded that classifications based initially only upon descriptions of obvious physical characteristics may be very similar to later versions based upon more sophisticated techniques of measurement.
Classification beyond the diagnosis
Authors: Cooper John E. , Sartorius Norman
Published: February 2014

The diagnosis of the disorder from which a patient is suffering does not necessarily convey much information for that individual about the severity or duration of any associated disability. But since recording of the diagnosis is traditionally given much emphasis, and is easily available, it is often used by administrators for purposes for which it is not suited. In particular, ‘diagnosis-related groups’ (DRG) are a poor substitute for properly worked out measures of severity and length of disability. Some contemporary diagnoses are focused too much on the individual patient, and do not reflect adequately the effects on other persons and family members; there are now some signs that these deficiencies may be addressed in DSM-V and ICD-11, as relationship disorders. In the past, treating terms such as impairment, disability and handicap as synonyms has caused confusion, but special rating scales are now available which give specific meanings to these terms. The most recent example is the International Classification of Functioning, Disability and Health (ICF) produced by the WHO.
Multi-axial classification
Authors: Cooper John E. , Sartorius Norman
Published: February 2014

The idea that it would be useful to systematically record key elements describing the condition of mentally ill people on several axis (e.g. that of disability) was introduced early in the 20th century by Kretschmer who recommended that psychiatrists should note the causal factors in addition to the diagnosis for each of their patient. Other proposals followed suggesting the systematic recording of matters such as personality traits or disorders, severity of disability produced by the psychiatric disorder, the environmental factors influencing the onset and development of the disorders and the legal implications of the disorder. The most widely known scheme is the one included in the fourth revision of the Diagnostic and Statistical Manual of the American Psychiatric Association (DSM- IV). The most recent proposal for a multi-axial classification (using six axes) is that produced by the World Health Organization for use in child psychiatry. While there is general agreement that it would be useful to accompany the diagnosis by recording on several other axes some key features of the patient’s state, in practice the systematic and consistent use of multi-axial classifications as a routine part of psychiatric record keeping in case-notes used for clinical care is probably not widespread.
The future
Authors: Cooper John E. , Sartorius Norman
Published: February 2014

DSM-5 is due to be published in May 2013, and ICD-11 probably in 2015. An extensive series of conferences and consultations, with considerable international input and including field trials, has been organised by the APA DSM-5 Task Force. The WHO has also created an Advisory Group, with input from the World Psychiatric Association, that will give special emphasis to the needs of Primary Care. Officials of the WHO and the APA have agreed on a meta-structure to be followed in the final versions of both the classifications. For the more distant future, as psychiatry continues to diversify due to advances in technology and increases in our knowledge of psychiatric disorders, it may well be increasingly difficult to produce comprehensive classifications that will be understandable and useful to all the different types of psychiatrists that will evolve. However, increasingly sophisticated information technology may counteract such developments.
Anomalous PV connections, AV malformations, coronary and LV abnormalities
Authors: Katritsis Demosthenes G. , Gersh Bernard J. , Camm A. John
Published: February 2014

Total and partial anomalous pulmonary vein connections, pulmonary arteriovenous malformations, congenital coronary anomalies, coronary fistulas, and left ventricular protrusions are discussed.
Eisenmenger syndrome
Authors: Katritsis Demosthenes G. , Gersh Bernard J. , Camm A. John
Published: February 2014

Diagnosis and management of Eisenmenger syndrome are discussed.
Classification of tachyarrhythmias, mechanisms of arrhythmogenesis, and acute management
Authors: Katritsis Demosthenes G. , Gersh Bernard J. , Camm A. John
Published: February 2014

Tachyarrhythmias are considered as atrial tachycardias, AVNRT and other junctional arrhythmias, AVRT, atrial fibrillation, and ventricular arrhythmias. The classification, electrophysiological mechanisms, and acute therapy of arrhythmias are presented.
Inflammatory diseases associated with thoracic aortic disease
Authors: Katritsis Demosthenes G. , Gersh Bernard J. , Camm A. John
Published: February 2014

Inflammatory disorders, i.e. Takayasu’s arteritis and giant cell (temporal) arteritis, are discussed.
The tertiary survey: how to avoid missed injuries
Authors: Tisherman Samuel A.
Published: February 2014

In the trauma setting, evaluation of possible injuries must proceed simultaneously withongoing resuscitation the patient. The patient should be fully evaluated expeditiously sothat all injuries are recognized and managed optimally. This complete evaluationof the trauma patient in the ICU or hospital ward has been called the tertiary survey, as first described by Enderson, et al (1990). A complete tertiary survey is critical to fully assess the patient and avoidmissing important injuries, which can have a significant impact on morbidity aswell as mortality.The tertiary survey is not a one-time evaluation, but a process that includesserial physical examinations and assessments.
Airway management in the intensive care unit
Authors: Emlet Lillian L.
Published: February 2014

Airway management in the Intensive Care Unit (ICU) requires a systematic, comprehensive approach to manage the anticipated and unanticipated difficulties that arise from critical illness and respiratory failure. It is similar in many waysto other emergent airway management situations in the emergency department(ED) and in-hospital cardiopulmonary arrest due to its unanticipated, emergentnature. In contrast, the situation may be different due to progressivelydecreased cardiopulmonary physiologic reserve, anatomic difficulties, andvariable injury complex of each trauma patient.
Abdominal trauma
Authors: Bauzá Graciela , Peitzman Andrew B.
Published: February 2014

The patient with abdominal injury represents a multitude of challenges to the intensivist. Understanding injury patterns increasesthe likelihood of timely diagnosis and treatment of injuries. The corollary isavoidance of missed injury. Missed abdominal injury is a common cause of preventablemorbidity and mortality in the trauma patient. The trauma intensivistmust understand, recognize, and anticipate potential injury complexes and theircomplications.The intent of this chapter is to review the basics of abdominal trauma and emphasize the vital role that the intensivist plays in the care of the trauma patient. The organization of the chapter presents mechanisms of injury followedby specific intra-abdominal organ injury with discussion of diagnosis andmanagement.
Soft tissue trauma and rhabdomyolysis
Authors: Ferrada Paula
Published: February 2014

Rhabdomyolysis is the breakdown of muscle fibers with leakage of intracellularcontents into the systemic circulation. The result of this extracellular rush of intracellular contents is multi-systemic. One of the devastating consequences ofthis disease is renal failure. This is due to decreased renal perfusion, cast formationwith tubular obstruction, and the direct toxic effects of myoglobin on therenal tubules. Trauma, particularly crush injury, is the most common predisposingfactor for this disease. Any patient with crush injury or/and a large amount of muscle compromisefrom soft tissue injury must be treated for rhabdomyolysis until provenotherwise.
Management of the brain-dead organ donor
Authors: Singbartl Kai
Published: February 2014

Nearly 7% of transplant candidates in the United States diewhile on the waiting list. Use of marginal, high-risk donors and the extension ofcriteria for donation have attenuated the shortage to a small degree. In addition, several administrative and clinical measures, such as the institution of in-houseorgan procurement coordinators, have also been introduced to address thisproblem. These measures by themselves are insufficient to alleviatethe shortage of transplantable organs. Therefore, the accurate and carefulmanagement of brain-dead organ donors becomes of utmost importance in our attempts to further maximize the number of organs that can be retrieved fortransplantation and, the number of other recipient lives that can subsequentlybe saved. This chapter will discuss the management of brain-dead organ donors, and focus on the organization of donor management as well as medicalaspects, in particular hemodynamic and pulmonary management.
Management of traumatic spinal cord injury
Authors: Panczykowski David M. , Okonkwo David O. , Spiro Richard M.
Published: February 2014

In the United States, the annual incidence of traumatic spinal cord injury (SCI) ranges from 25 to 58 per million people.Primary Injury is defined as neuronal death or dysfunction as a consequence ofinitial impact, transient or persistent compression, distraction, and laceration/transection. Secondary Injury involves progressive ischemic, inflammatory, and cytotoxic processes initiated or potentiated by systemic and/or local insults.Initial assessment should be in accordance with Advanced Trauma Life-Supportrecommendations, beginning with an evaluation of airway, breathing, and circulatoryfunction.Patients with acute traumatic SCI should be managed at a Level I trauma centerbecause these centers have demonstrated better outcomes. Patients sufferingSCI, regardless of severity, frequently experience cardiovascular instability andpulmonary insufficiency necessitating vigilant monitoring.
Burn care
Authors: Ziembicki Jennifer
Published: February 2014

Severe burn injury evokes a significant inflammatory response in the patient proportionalto the size of the cutaneous injury. Early mortality may be attributedto inability to control the airway as well as failures of initial resuscitation. Earlyexcision and grafting is essential to halt the ensuing inflammatory response andimprove patient survival.
Acute kidney injury
Authors: Piper Greta L. , Kaplan Lewis J.
Published: February 2014

AKI is increasingly common and continues to be associated with significantmorbidity and mortality. Although the understanding of certain etiologies andmechanisms has improved, the general diagnostic approach remains unchanged.Prevention of initial AKI, as well as prevention of worsening of AKI with supportivetherapy, remains the most effective means of managing this insult.Classification of kidney injury with the RIFLE criteria provides a common referencefor comparison that can be used for future trials to further elucidateprognosis as well as provide more standardized evidence-based protocols fortreatment.
Infection and antibiotic management
Authors: Claridge Jeffrey A. , Banerjee Aman
Published: February 2014

Nosocomial infections are a major patient safety issue in the ICU. They causesignificant increases in patient morbidity and mortality, as well as increase medicalexpenses. Trauma patients often sustain multiple injuries—any of which canlead to infection. Critically ill trauma patients have a higher risk of infectioncompared to other surgical ICU cohorts. Trauma patientshave higher rates of emergency procedures such as intubation, central venouscatheterization, and tube thoracostomy, where the use of sterile techniquemight not be absolute. Trauma and blood transfusion may also be associatedwith immunosuppression. Additionally, trauma ICU device utilization rates areamong the highest when compared to other ICU types.
Nutrition
Authors: Ochoa Juan B. , Bryk Jodie
Published: February 2014

Critical illness profoundly disrupts the ability to maintain volitional oral intakewhich, without intervention, can lead to prolonged starvation, the progressiontowards malnutrition, and the development of malnutrition-related organ dysfunctionand complications. In addition, lack of oral intake in another humanbeing elicits emotional responses by both well-intentioned family and healthcareproviders prompting the unnecessary provision of inappropriate nutrition interventionduring illness. Far from being supportive, however, prescription of inappropriatelyindicated forms of nutrition intervention in the critically ill patient can result in significant side effects and may worsen outcomes. Nutrition intervention is not intuitive andrequires a careful understanding of metabolism during health and disease, as wellas knowledge of the different forms of nutrition intervention. This chapter aimsto provide a basic understanding of nutrition intervention in the critically ill whileproviding guidelines that can help physicians in their day-to-day practices.
Venous thromboembolism prophylaxis
Authors: Alarcon Louis H.
Published: February 2014

Venous thromboembolism (VTE) is a common problem in trauma patients andcan potentially lead to significant morbidity, mortality, and resource expenditure.Although the most serious consequence ofVTE is the development of massive pulmonary embolism and death, DVT and PE can also lead tosignificant morbidity and long-term sequelae.Several evidence-based guidelines have been proposed with varying degrees of adherenceandeffectiveness, primarily due to concerns of increased bleeding in themulti-trauma patient.
Sedation and analgesia in the intensive care unit
Authors: Kaynar A. Murat
Published: February 2014

Most patients admitted to intensive care unit (ICUs) require sedation and analgesia to minimize discomfort, anxiety, dyspnea, pain, and risks associated withagitation, such as inadvertent removal of tubes or catheters. The level of sedationrequired should be defined as early as possible in the course of a patient–sstay in the ICU.Patient-focused sedationshould incorporate the concept that the need for sedation and analgesia differsamong patients and within patients over time during the course of theirillnesses. As much as the therapies need to be individualized, the approach to sedationand analgesia is better accomplished in a multi-disciplinary fashion, includingthe perspectives of nurses, pharmacists, and physicians and amalgamating theminto a functional and patient-oriented medical plan.
Geriatric trauma critical care
Authors: Marshall Gary T.
Published: February 2014

The declines in motor and cognitive functionassociated with aging have combined to create an ever enlarging group of geriatricpatients experiencing trauma. As such, the ICU population is made up of anenlarging proportion of injured, elderly patients requiring specially tailored care.The injury severity is often disproportionate to an apparentlybenign mechanism of injury.Mortality is increased at all phases of the death curve in geriatric trauma patients:prehospital, early, and late. Early mortality can be reduced by early, aggressiveresuscitation, thorough radiographic evaluation, monitoring, and operation. Late death in the elderly is reduced by meticulous attention to detail and subtlechanges in patient status.
Neuroanatomy
Authors: Fisch Adam
Published: February 2014

Neuroanatomy: Draw It to Know It, Second Edition teaches neuroanatomy in a purely kinaesthetic way. In using this resource, each neuroanatomical pathway and structure is learned by drawing, and through this process, memorable and reproducible schematics for the various learning points in neuroanatomy are created in a hands-on, enjoyable, and highly effective manner. In addition to this unique method, this resource also provides a remarkable repository of reference materials, including numerous anatomic and radiographic brain images, muscle-testing photographs, and illustrations from many other classic texts, which all enhance the learning experience. This new edition adds "Know-It" points to each chapter, providing high-yield learning methods that separate the essential from the advanced topics. It engages the reader in a direct manner while covering both the advanced level of detail needed as well as retaining the simplistic approach used in learning this challenging subject.
Peripheral Nervous SystemAutonomic Nervous System
Authors: Fisch Adam
Published: February 2014

Chapter 6 discusses how to draw the peripheral nervous system, specifically the autonomic nervous system, including autonomic fiber arrangements, the parasympathetic nervous system, the sympathetic nervous system, the urinary system, and the cardiac reflex.
Spinal Cord
Authors: Fisch Adam
Published: February 2014

Chapter 7 gives an overview of the spinal cord, as well as how to draw the ascending and descending pathways, the major ascending and descending tracts, the spinocerebellar pathways, and related spinal cord disorders.
Spinal Canal and Muscle–Nerve Physiology
Authors: Fisch Adam
Published: February 2014

Chapter 8 discusses the nerve physiology of the spinal canal and muscle, including the muscle stretch reflex, advanced muscle-nerve physiology, and nerve roots and rami.
BrainstemPart One
Authors: Fisch Adam
Published: February 2014

Chapter 9 discusses the brainstem composite via an axial view (including the thalamus and striatum), as well as the midbrain, the pons, and the medulla.
BrainstemPart Two
Authors: Fisch Adam
Published: February 2014

Chapter 10 also discusses the brainstem, and covers major sensory projections, major motor projections, midbrain syndromes, pontine syndromes, and medullary syndromes.
Cranial and Spinal Nerve Overview and Skull Base
Authors: Fisch Adam
Published: February 2014

Chapter 11 gives an overview of the cranial and spinal nerves, and skull base, including spinal and cranial nuclear classification, cranial nerve nuclei, skull foramina, and cavernous sinus.
Cerebellum
Authors: Fisch Adam
Published: February 2014

Chapter 15 discusses the cerebellum, including lobes, zones, and modules, somatotopy and lobules, peduncles, midline structures, arteries, nuclei and circuitry, and the corticopontocerebellar pathway.
Cerebral Gray Matter
Authors: Fisch Adam
Published: February 2014

Chapter 16 discusses cerebral gray matter, including the lateral , medial, and inferior Face of the cerebral hemisphere, as well as the insula, cerebral cytoarchitecture, and Brodmann areas.
Cerebral White Matter
Authors: Fisch Adam
Published: February 2014

Chapter 17 gives an overview of cerebral white matter, including long association fibers, the internal capsule, and commissures and disconnections.
Basal Ganglia
Authors: Fisch Adam
Published: February 2014

Chapter 18 discusses the basal ganglia, including anatomy, nomenclature, and the anatomy and circuitry of the direct and indirect pathways.
Arterial Supply
Authors: Fisch Adam
Published: February 2014

Chapter 19 discusses arterial supply, including the Circle of Willis, leptomeningeal cerebral arteries, deep cerebral arteries, arterial border zones, and arteries of the brainstem, cerebellum, spinal cord, and thalamus.
Diencephalon
Authors: Fisch Adam
Published: February 2014

Chapter 20 discusses the diencephalon, including parts 1 and 2 of the thalamus, its anatomy and function, nuclei, and tracts.
Limbic and Olfactory Systems
Authors: Fisch Adam
Published: February 2014

Chapter 21 discusses the limbic and olfactory systems, including parts 1 and 2 of the limbic system, the anatomy and circuitry of the hippocampus, parts 1 and 2 of the olfactory system, and parts 1 and 2 of the olfactory cortex and basal forebrain.
Vision
Authors: Fisch Adam
Published: February 2014

Chapter 22 discusses vision, including the eye and retina, as well as the axial and sagittal views of the visual pathways, visual field deficits, and cortical visual processing.
Isolated Vertigo
Authors: Levin Morris
Published: February 2014

Chapter 8 presents a case regarding isolated vertigo, and discusses that dizziness”can indicate any of several different perceptual states including vertigo, imbalance, and lightheadedness, how an initial CT scan, and later MRI, cerebral vascular imaging, and echocardiography are indicated in patients with risk factors for cardiovascular and cerebrovascular disease, how vertigo, when accompanied by cranial neuropathies, should prompt lumbar puncture if there are no contraindications, and that lightheadedness with or without syncope should lead to cardiac evaluation.
Acute Stroke after 3 Hours
Authors: Levin Morris
Published: February 2014

Chapter 13 presents a case of acute stroke after 3 hours, and discusses the third European Cooperative Acute Stroke Study (ECASS III), which suggests a longer time window for good results with IV tPA in a large subgroup of patients, how intra-arterial tPA can be a good choice when the site of thrombosis is identified, with an even longer time window, and that mechanical clot extraction technology has advanced to the point where it, too, deserves serious consideration for a number of acute-stroke patients.
Acute Lumbar Radiculopathy
Authors: Levin Morris
Published: February 2014

Chapter 19 presents a case of acute lumbar radiculopathy, and discusses that acute lumbosacral radicular pain is usually due to disc rupture and herniation or exacerbation of spinal stenosis, but neoplasm, fracture, infection, and compressive cauda equine syndrome must be excluded, that the most common lumbosacral roots to be symptomatic are S1 and L5, although L4 can also be involved, how pain can usually be controlled medically, and that manual and surgical approaches to acute radicular pain seem to be equivalent in terms of long-term outcome, although surgical intervention can provide some additional benefit in the short term.
Post-traumatic Paraplegia
Authors: Levin Morris
Published: February 2014

Chapter 20 presents a case of post-traumatic paraplegia, and discusses how after spinal injury, patients must be immobilized in the field; airway, breathing, and circulation ensured; and then brought to a spinal trauma center as soon as possible, that determination of other injuries and localization of the site(s) of damage must be done quickly, how when imaging is done to visualize bones, discs, and hemorrhage—MRI is best for most issues, but CT is more accurate regarding bony pathology, that treatment of spinal cord injury with intravenous methylprednisolone is standard practice in most centers, but evidence is mixed for its efficacy, and that in order to prevent secondary spinal cord injury, surgical decompression is done when there is compression of the spinal cord.
Intracranial Mass Lesion in HIV Infection
Authors: Levin Morris
Published: February 2014

Chapter 25 presents a case of intracranial mass lesion in HIV infection, and discusses that while toxoplasmosis is the common etiology underlying intracranial mass lesions, a number of other infectious, neoplastic, and other processes may present in this way, that functional neuroimaging testing can help to distinguish between some of these conditions, and that lumbar puncture in HIV-infected patients with intracranial mass lesions is generally unrevealing and can be risky.
Basic Pathology of the Central Nervous System
Authors: Seilhean Danielle , De Girolami Umberto , Gray Françoise
Published: February 2014

This chapter considers the three consecutive steps involved in the pathological diagnosis of lesions of the nervous system: (1) a morphological/laboratory analysis of the basic cellular reactions to injury seen in the neurons, glia, connective tissue, and vascular structures as general tissue reactions of the CNS to injury; (2) the importance of ascertaining a topographical distribution of the lesions; and (3) the need for a critical integration of these findings and their correlation with the clinical data and the general autopsy findings, thus permitting an etiological diagnosis to be made in most instances. Macroscopic and microscopic descriptions and an illustration of these changes are provided.
Tumors of the Central Nervous System
Authors: Ligon Keith L. , Mokhtari Karima , Smith Thomas W.
Published: February 2014

This chapter presents the most up-to-date classification of tumors of the nervous system, based on the histological appearance of the neoplasm and also on information derived from cytogenetics and molecular biology, now recognized worldwide as increasingly important for more precise diagnosis, prognosis, and therapeutic guidance. The chapter provides a detailed morphologic description of each major tumor type, with numerous illustrations of macroscopic and microscopic lesions. First we consider primary tumors of the nervous system, including those derived from neuroepithelial tissue (astrocytic, oligodendroglial, ependymal, neuronal, and glioneuronal), pineal tissue, peripheral nerve sheath, and meninges. Next lymphomas, hematopoietic neoplasms, and secondary (metastatic) neoplasms are described.
Neuropathology of Vascular Disease
Authors: Hauw Jean-Jacques , De Girolami Umberto , Vinters Harry V.
Published: February 2014

The classification of vascular diseases of the central nervous system followed here first considers two large groups of entities: relatively large intraparenchymal hemorrhage due to rupture of blood vessels and infarction from occlusion of major vessels affecting large areas of the brain. The underlying pathology of the vessels is discussed, as are the reactions of nervous tissue to irreversible injury over time. Intracranial hemorrhages can also be seen in the context of rupture of vessels with outpouring of blood into the subarachnoid spaces, in cases of ruptured aneurysm or vascular malformations. Next we consider small vessel disease, in which the lesions affect the microcirculation and may also cause dementia, encephalopathies, or multifocal neurological deficits, the result of multiple micro-hemorrhages, small infarcts, or both. Vascular diseases affecting the small blood vessels include hypertensive cerebrovascular disease and cerebral amyloid angiopathy. Less common entities include hereditary disorders (i.e., CADASIL) and vasculitides.
Multiple Sclerosis and Related Inflammatory Demyelinating Diseases
Authors: Lassmann Hans , Sobel Raymond A. , Seilhean Danielle
Published: February 2014

This chapter describes and illustrates the morphologic changes observed in inflammatory demyelinating diseases. These are defined by the selective destruction of myelin sheaths and oligodendrocytes, arising in a background of acute or chronic inflammation. The spectrum of inflammatory demyelinating diseases includes multiple sclerosis, acute disseminated encephalomyelitis, Balo concentric sclerosis, and neuromyelitis optica. The etiology and pathogenesis of the diseases are discussed and criteria for the diagnosis of inflammatory demyelinating diseases on brain biopsies are provided.
Acquired Metabolic Disorders
Authors: Chimelli Leila , Gray Françoise
Published: February 2014

This chapter describes and illustrates the neuropathological changes observed in a wide range of systemic acquired metabolic diseases that affect the central and/or peripheral nervous system: hypoxia, hypoglycemia, hyperthermia, disorders of serum electrolytes, vitamin deficiencies, and exogenous intoxications, particularly alcoholism and intoxications by drugs, methanol, and heavy metals. It also considers CNS changes secondary to systemic diseases, including respiratory encephalopathies, hepatic encephalopathy, multifocal necrotizing leukoencephalopathy, and paraneoplastic encephalomyelopathies.
Congenital Malformations and Perinatal Diseases
Authors: Encha-Razavi Féréchté , Folkerth Rebecca , Harding Brian N. , Vinters Harry V. , Golden Jeffrey A.
Published: February 2014

This chapter describes and illustrates the changes of the CNS in congenital malformations and perinatal diseases; it also provides insights into the genetic abnormalities associated with these conditions. Congenital malformations include neurulation failure resulting in neural tube closure defects, disorders of development of the prosencephalon, malformations of the cortical plate (neuronal heterotopia, polymicrogyria, lissencephaly, and focal cortical dysplasia, a frequent cause of epilepsy in children), and disorders of hindbrain development, particularly malformations of the cerebellum. Destructive lesions of developing brain are described in association with a variety of situations generally resulting in “hypoxia-ischemia.” They may affect the neocortex, causing porencephaly or hydranencephaly, the basal ganglia (status marmoratus), or the white matter (perinatal telencephalic leukoencephalopathy and periventricular leukomalacia).
Synaptic and Neural Plasticity
Authors: Kourrich Saïd , Bonci Antonello
Published: February 2014

The brain is an extraordinarily complex organ that constantly has to process information to adapt appropriately to internal and external stimuli. This information is received, processed, and transmitted within neural networks by neurons through specialized connections called synapses. While information transmission at synapses is primarily chemical, it propagates through a neuron via electrical signals made of patterns of action potentials. The present chapter will describe the fundamental types of plastic changes that can affect neuronal transmission. Importantly, these various types of neural plasticity have been associated with both adaptive such as learning and memory or pathological conditions such as neurological and psychiatric disorders.
Optogenetic Technologies for Psychiatric Disease Research: Current Status and Challenges
Authors: Fenno Lief E. , Deisseroth Karl
Published: February 2014

Studying intact biological systems with both local precision and global scope is a fundamental challenge, especially in psychiatric disease research. Part of a solution may arise from the technology of optogenetics: the combination of genetic and optical methods to control events in specific cells embedded within intact living tissue or organisms. For example, “opsin” genes can be introduced into mammalian neurons to mediate millisecond-precision and reliable elicitation or inhibition of neural activity in response to light pulses. This approach has now been used to control neuronal activity in a wide range of animals, resulting in insights into fundamental aspects of circuit function, as well as circuit dysfunction and treatment in pathological states. Here we review the current state of optogenetics for neuroscience and psychiatry, and address the evolving challenges and future opportunities. Despite both rapid growth and wide scope of applications, fundamental challenges remain to be addressed.
Blood–Brain Barrier Opening and Drug Delivery Using Focused Ultrasound and Microbubbles
Authors: Konofagou Elisa E.
Published: February 2014

Current treatments of neurological and neurodegenerative diseases are limited due to the lack of a truly non-invasive, transient, and regionally selective brain drug delivery method. The brain is particularly difficult to deliver drugs to because of the blood-brain barrier (BBB). The impermeability of the BBB is due to the tight junctions connecting adjacent endothelial cells and highly regulatory transport systems of the endothelial cell membranes. The main function of the BBB is ion and volume regulation to ensure conditions necessary for proper synaptic and axonal signaling. However, the same permeability properties that keep the brain healthy also constitute the cause of the tremendous obstacles posed in its pharmacological treatment. The BBB prevents most neurologically active drugs from entering the brain and, as a result, has been isolated as the rate-limiting factor in brain drug delivery. Until a solution to the trans-BBB delivery problem is found, treatments of neurological diseases will remain impeded. Over the past decade, methods that combine Focused Ultrasound (FUS) and microbubbles have been shown to offer the unique capability of noninvasively, locally and transiently opening the BBB so as to treat central nervous system (CNS) diseases. Four of the main challenges that lie ahead are to: 1) assess its safety profile, 2) unveil the mechanism by which the BBB opens and closes, 3) control and predict the opened BBB properties and duration of the opening and 4) assess its premise in brain drug delivery. All these challenges will be discussed, findings in both small (mice) and large (non-human primates) animals will be shown and finally the case for this technique for clinical applications will be made.
Genetics of Schizophrenia and Bipolar Disorder
Authors: Sklar Pamela
Published: February 2014

Schizophrenia and bipolar disorder are the classic psychotic disorders. Both diseases are strongly familial, but have proven recalcitrant to genetic methodologies for identifying the etiology until recently. The explosion of strong and convincing genetic evidence indicates a contribution of many DNA changes to the risk of becoming ill. For schizophrenia, there are large contributions of rare copy number variants and common single nucleotide variants, with an overall highly polygenic genetic architecture. There is a role for rare single nucleotide variation as well as de novo genetic variation being pointed to in new sequencing studies, but their overall contribution to risk is less clear. For bipolar disorder, the role of copy number variation appears to be much less pronounced. Specific common single nucleotide polymorphisms are associated, there is evidence for polygenicity and as yet no deep sequencing surveys have been published. Several intriguing biological pathways are suggested by these genetic findings related to microRNAs and calcium channel signaling. Several surprises have emerged from the genetic data that indicate there is significantly more molecular overlap in copy number variants between autism and schizophrenia, and in common variants between schizophrenia and bipolar disorder. Translating these results into biological and etiological understanding has not yet advanced, and will likely only do so when experimental methods are developed than can address the large numbers of genes and variants within them that, along with environmental and stochastic effects, result in the development of disease for a particular person.
Animal Models of Mood Disorders
Authors: Hodes Georgia E. , Russo Scott J.
Published: February 2014

This chapter covers practical and theoretical information concerning the validity of current animal models of mood disorders, with a focus on depression. These models range from the stress based methods used to induce depression-like responses in normal animals, to those that use the complex genetics of selective breeding strategies that predispose subsets of animals to a depression-like phenotype. The validity of each model is discussed with regard to human depression, including similarities to known changes in peripheral and neurobiological markers. The author’s suggest that by utilizing a battery of behavioral assays in model systems, it may be possible to eventually develop diagnostic criteria in humans based on valid biological mechanisms and move drug discovery efforts beyond monoamine based antidepressants
Neurobiology and Treatment of PTSD
Authors: Murray Karen E. , Keifer Orion P. , Ressler Kerry J. , Norrholm Seth Davin , Jovanovic Tanja
Published: February 2014

Experiencing an extremely traumatic event, such as combat or violent assault can lead to posttraumatic stress disorder (PTSD), the fourth most common psychiatric diagnosis. It is defined by reexperiencing, hyperarousal, and avoidance symptom clusters following an event that elicited fear, helplessness, or horror. As a disorder which is in part explained by disruption of normal fear regulation, it provides a particularly interesting and exciting intersection of the molecular neurobiology of fear processing that is being rapidly understood in animal models. This chapter reviews some aspects of convergence from preclinical studies with human neuroimaging, neurophysiology, and genetic approaches as well as current and new treatment approaches.
The Genetic Basis of Addictive Disorders
Authors: Goldman David
Published: February 2014

The quantitative inheritance of addictions presaged identification of genes modulating risk. Vulnerability is mediated both by agent-specific and non-specific factors. Genomic views include Genome Wide Association which detected CHRNA5, a nicotinic receptor subunit that modulates vulnerability to smoking. Sequencing detected a population-specific stop codon in HTR2B, a serotonin receptor that modulates impulsivity and other addiction-related processes. The loci identified account for a small portion of inherited liability. In several instances larger effects have been observed on processes such as emotionality, impulsivity and metabolism that mediate vulnerability. Although we do not possess a set of genetic markers predictive of treatment response, several genes including OPRM1 which has been linked to response of alcoholic patients to naltrexone, have predictive value.
Disease-Modifying Therapies for Alzheimer’s Disease
Authors: Grill Joshua D. , Cummings Jeffrey
Published: February 2014

Alzheimer’s disease (AD) is growing in frequency rapidly and represents an area of urgent need in medical research. Now the sixth leading cause of death, AD is expected to triple in prevalence in coming decades. Key to averting the personal and international toll of AD will be clinical trials to examine the safety and efficacy of potentially disease-slowing therapies. These studies face a variety of challenges, including imperfect outcome measures, unvalidated surrogate biomarkers, and often slow and challenging recruitment. Nevertheless, a large number of promising potential therapies are in development. If successful and started early enough, these treatments could reduce the societal impact of AD. In this chapter, we provide an overview of the methodologies and designs of AD trials of potential disease-modifying therapies, the challenges these studies meet, and the targets and potential treatments that are currently in development.
Epidemiology of Neuropsychiatric and Developmental Disorders of Childhood
Authors: Robinson Elise B. , Neale Benjamin M. , Daly Mark J.
Published: February 2014

Neuropsychiatric disorders of childhood place an enormous burden on families and the health care system. This chapter reviews the epidemiology of Autism Spectrum Disorders, Attention Deficit/Hyperactivity Disorder, Tourette’s Disorder, and Intellectual Disabilities, concentrating on their distribution, estimated heritability, and implied genetic architecture. We discuss evidence of etiologic overlap between the four disorders, as well as hypothesized links between severely disordered behavior and typical behavioral variation in the general population.
Rare Variants of Substantial Effect in Psychiatric Disorders of Childhood Onset
Authors: Mefford Heather C.
Published: February 2014

Psychiatric disorders in children, including autism, intellectual disability, attention deficit hyperactivity disorder, childhood-onset schizophrenia and bipolar disorder carry a significant financial and social burden for affected individuals and their families. It is clear that genetic factors play an important role in the etiology of many psychiatric illnesses. However, the inheritance pattern of each of these disorders is not straightforward, and therefore the identification of specific causative genes has been difficult. Recent technological advances facilitate genome-wide studies to identify both common and rare genetic variants in large numbers of individuals. In this chapter, we will review evidence that suggests that rare genetic variants, including both single nucleotide and copy number variants, contribute to the genetic risk of childhood-onset psychiatric disease.
Functional Connectivity: Application to Developmental Disorders
Authors: Bloy Luke , Verma Ragini , Roberts Timothy P.L.
Published: February 2014

Noninvasive imaging and electrophysiological methods have been developed to facilitate the in vivo investigation of brain function and dysfunction. Such methods have been employed, with great success, to the functional mapping of the brain, as well as the characterization of the temporal activity of these regions during a variety of tasks and experimental conditions. These methods are however inadequate to fully capture our current understanding of brain activity, as the complex interplay of structurally and functionally connected networks of neuronal ensembles. Here we offer an overview of the methodological advancements that have been made to better facilitate the investigation of connectivity in the brain and its relationship to development and pathology. We have focused primarily on in vivo modalities that have been most widely adopted, namely fMRI and electro/magneto encephalography for the investigation of functional connectivity and diffusion MRI for structural connectivity. Finally, the application of these methodologies to the study of neurodevelopmental disorders, such as the autism spectrum disorders, schizophrenia and attention deficit hyperactivity disorder, is presented.
Neurobiology of Attention Deficit/Hyperactivity Disorder
Authors: Faraone Stephen V. , Biederman Joseph
Published: February 2014

Attention deficit hyperactivity disorder (ADHD) is a prevalent, early onset and persistent, disorder of inattention, hyperactivity and impulsivity. The mechanisms of action of ADHD medications, neuroimaging studies and studies of monoamine systems and animal models suggest that dysregulation of catecholaminergic neurotransmission in cerebellar-corticostriatal circuits plays a key role in the pathophysiology of ADHD. The efficacy of ADHD medications likely arises from their differing profile of effects on a) dopaminergic and noradrenergic systems and b) the localization of these effects in prefrontal cortex and striatum ADHD has a very high heritability and although molecular genetic studies have found no causal common DNA variants yet, they have found strong evidence that rare duplications and deletions are risk factors for ADHD. Environmental risk factors, especially those that impact early neurodevelopment (i.e., exposure to cigarette smoking and alcohol during pregnancy), also influence susceptibility to ADHD.
Catheter Ablation and Device Therapy in Congenital Heart Disease
Authors: Sriram Chenni S. , Madhavan Malini , Brady Peter A. , Cannon Bryan C. , McLeod Christopher J. , Asirvatham Samuel J.
Published: February 2014

Arrhythmias in adult CHD patients represent the leading cause of morbidity and hospitalization, resulting in a major increase in ablation and device-related procedures in these patients. These procedures are often complex, not only because of underlying congenital anatomic variations but also because of the effects of prior surgical repair that can modify the arrhythmic substrate leading to an increased likelihood of multiple types of arrhythmias, even in the same patient. To optimize both success and safety with these procedures, the electrophysiologist must be thoroughly familiar with the underlying cardiac anatomy, prior cardiac surgical history, and known variants of both the pathology and surgical techniques. The purpose of this chapter is to outline the salient concepts and principles pertinent to arrhythmia and device management in patients with CHD.
Case 1
Authors: Asirvatham Samuel J. , Cha Yong-Mei , Friedman Paul A.
Published: February 2014

Case presentations focus on mapping techniques, diagnosis, and proper catheter placement for successful ablation of arrhythmias. This case focuses on tachycardia, bundle branch block, the His bundle, and the tricuspid annulus.
Case 2
Authors: Asirvatham Samuel J. , Cha Yong-Mei , Friedman Paul A.
Published: February 2014

Case presentations focus on mapping techniques, diagnosis, and proper catheter placement for successful ablation of arrhythmias. This case focuses on recurrent atrial arrhythmia and flutter, idiopathic ventricular fibrillation, the posterior aortocaval and transverse sinuses, coronary veins, and mitral annulus. Prevention of atrial esophageal fistula and perforation into the left atrium are also discussed.
Case 6
Authors: Asirvatham Samuel J. , Cha Yong-Mei , Friedman Paul A.
Published: February 2014

Case presentations focus on mapping techniques, diagnosis, and proper catheter placement for successful ablation of arrhythmias. This case focuses on palpitations, retrograde right bundle branch block, His bundle activation, and AV node reentry.
Case 14
Authors: Asirvatham Samuel J. , Cha Yong-Mei , Friedman Paul A.
Published: February 2014

Case presentations focus on mapping techniques, diagnosis, and proper catheter placement for successful ablation of arrhythmias. This case focuses on wide complex tachycardia, automatic tachycardia, and reentrant tachycardia.
Case 18
Authors: Asirvatham Samuel J. , Cha Yong-Mei , Friedman Paul A.
Published: February 2014

Case presentations focus on mapping techniques, diagnosis, and proper catheter placement for successful ablation of arrhythmias. This case focuses on tachyarrhythmia, automatic atrial arrhythmia, reentrant atrial arrhythmia, scarring, entrainment mapping, and pinging.