bluuebunny/crossref_metadata_2025_split huggingface dataset:
Major Susceptibility Genes for Common Idiopathic Epilepsies
Authors: Pal Deb K. , Greenberg David A. 
Published: May 2013

Abstract
Clinical observations confirm that the idiopathic epilepsies are neurodevelopmental disorders strongly influenced by genetic factors. Genetic epidemiological studies prove major genetic influences on two common forms of idiopathic epilepsy to be discussed here: rolandic epilepsy (RE) and juvenile myoclonic epilepsy (JME). The common forms of these idiopathic syndromes have a complex genetic inheritance, and this fact complicates the task of finding and elucidating the susceptibility genes as well as proving their pathogenic role. Genetic heterogeneity and phenotype definition are much more serious factors in studying common complex epilepsies than they are in the study of densely affected epilepsy pedigrees showing Mendelian inheritance. In complex disorders, several genes and sometimes environmental factors are believed to contribute to disease etiology; as a result, proving a causative role for any one gene, in a genetic model involving multiple genes, can present a challenge.
Myoclonin1/EFHC1 in Cell Division, Neuroblast Migration, and Synapse/Dendrite Formation in Juvenile Myoclonic Epilepsy
Authors: Grisar Thierry , Lakaye Bernard , de Nijs Laurence , LoTurco Joseph J. , Daga Andrea , Delgado-Escueta Antonio V. 
Published: May 2013

Abstract
In this chapter , we review these putative roles of Myoclonin 1/EFHC1 during brain development and during adulthood. We posit the hypothesis that JME is a developmental disease involving neuronal migration and synaptic bouton and dendritic morphogenesis.
Progressive Myoclonus Epilepsy
Authors: Lehesjoki Anna-Elina , Gardiner Mark 
Published: May 2013

Abstract
Loss-of-function mutations in CSTB are the primary defect in EPM1. In CSTB mutation-negative patients, PRICKLE1 and SCARB2 should be considered for testing. Lost lysosomal association of CSTB is an important contributing factor to EPM1. CSTB has an endogenous neuroprotective role, with different neuronal populations having different sensitivity to CSTB deficiency. The function of CSTB and the molecular mechanisms of EPM1 remain to be elucidated. Eight genes underlying human NCLs have now been identified: PPT1, TPP1, CLN3, CLN5, CLN6, MFSD8, CLN8, and CSTD. However, the biological function of the proteins encoded by NCL genes remains elusive, and it is still uncertain whether a common pathway at the molecular level underlies the accumulation of ceroid-lipofuscin. Diagnosis by enzymatic testing or DNA analysis is now available for several subtypes, and new treatment approaches are being developed.
Cognitive and Behavioral Comorbidities of Epilepsy
Authors: Kleen Jonathan K. , Scott Rod C. , Lenck-Santini Pierre-Pascal , Holmes Gregory L. 
Published: May 2013

Abstract
In this chapter, the mechanisms of both permanent and dynamic impairments in cognition and behavior associated with epilepsy will be reviewed. As will be discussed, there is now considerable evidence that the final common pathway for the cognitive and behavioral disturbances is likely through epilepsy-induced altered neuronal signaling resulting in malfunctioning network activity.
Migraine and Epilepsy—Shared Mechanisms within the Family of Episodic Disorders
Authors: Rogawski Michael A. 
Published: May 2013

Abstract
In 1906, the British neurologist Sir William R. Gowers delivered a clinical lecture at the National Hospital for the Paralysed and Epileptic, Queen Square, London, in which he pointed out the resemblance between migraine and epilepsy.1 He argued that migraine is a borderland disease to epilepsy: “near it but not of it.” Gowers recognized that migraine and epilepsy often occur together in the same patient and that the two conditions are similar in their “character and nature.” In recent years, the association between migraine and epilepsy as comorbid conditions has been confirmed. Moreover, migraine and epilepsy are now recognized to be key members of a large family of episodic disorders that also includes periodic paralyses, cardiac arrhythmias, and episodic movement disorders. Studies of the pathophysiological mechanisms underlying the generation of migraine aura and focal seizures indicate remarkable similarities. The identification of genes responsible for both conditions is perhaps the strongest evidence for shared underlying mechanisms.
Calcium Channel α2δ Subunits in Epilepsy and as Targets for Antiepileptic Drugs
Authors: Dolphin Annette C. 
Published: May 2013

Abstract
Voltage-gated calcium (CaV) channels are involved in numerous physiological processes, the most important being muscle contraction, hormone secretion, and synaptic transmission. The pore-forming subunit of CaV channels is the α1 subunit, and this determines the main biophysical and pharmacological properties of the channels (Fig. 75–1). There are three main subgroups of CaV channels, CaV1–3. The low-voltage-activated calcium channels (CaV3 or T-type channels) appear to be able to function well as monomers. However, the high-voltage activated (HVA) CaV1 and CaV2 subfamilies are normally heteromeric, with the α1 subunit being associated with a CaVβ subunit and an α2δ subunit (for reviews see refs. 1–3; Fig. 75–1). Ten mammalian α1 subunits (Fig. 75–1), four β subunits, and four α2δ subunits have been cloned. These are described in more detail below.
Neurosteroids—Endogenous Regulators of Seizure Susceptibility and Role in the Treatment of Epilepsy
Authors: Reddy Doodipala Samba , Rogawski Michael A. 
Published: May 2013

Abstract
Neurosteroids are endogenous modulators of neural excitability that are believed to have a role in the regulation of seizure susceptibility in the setting of preexisting epilepsy. Menstrual and stress-related fluctuations in seizures may in part be related to changes in brain neurosteroid levels. In addition, men with TLE who have suppression of the hypothalamic-pituitary-gonadal axis may have a reduction in testosterone-derived neurosteroids that could worsen seizures. Treatment with exogenously administered natural neurosteroids or synthetic analogs such as ganaxolone may be beneficial to treat partial seizures. Further studies are required to determine if neurosteroid replacement is a useful therapeutic approach for seizure exacerbations related to endogenous neurosteroid fluctuations, such as in catamenial epilepsy and stress. In the future, agents that influence the endogenous synthesis of neurosteroids, such as TSPO ligands, may find utility as an alternative to neurosteroids themselves in the treatment of epilepsy.24,131
Neonatal Seizures and Neuronal Transmembrane Ion Transport
Authors: Kahle Kristopher T. , Staley Kevin J. 
Published: May 2013

Abstract
This book chapter will discuss recent work that has provided insight into the role of NKCC1 in fostering excitatory GABAergic neurotransmission in the immature brain and how the pharmacological inhibition of NKCC1 might hold promise for the treatment of neonatal seizures.
Epidemiology of Late-Life Mood Disorders
Authors: Marino Patricia , Sirey Jo Anne 
Published: May 2013

Abstract
The reported rates of late life mood disorders vary across studies with a number of factors that contribute to the identification and documentation of late life mood disorders. Factors include variability in the definition of mood disorders, measures used to evaluate depression and settings from which data is collected. In this chapter we review the rates of reported later life mood disorders with particular attention paid to the assessment methods used and the populations sampled. This focus represents the increasing move out into the ‘community’ and the increased efforts to detect the prevalence of later life mood disorders in settings that support older persons.
Depression in Dementia
Authors: Marano Christopher M. , Rosenberg Paul B. , Lyketsos Constantine G. 
Published: May 2013

AbstractDepression is among the most common and troubling neuropsychiatric symptoms of dementia. It is important to diagnose and treat depression in dementia given its substantial adverse effects on patient and caregiver quality of life. The symptoms of depression in dementia often differ from those of a typical major depressive episode seen in younger adults. As the most common cause of dementia and the subject of the vast majority of dementia research, the chapter focuses on depression in Alzheimer’s dementia (AD) as a prototype for the evaluation and management of depression in dementia. We briefly review the epidemiology and non-cognitive manifestations of AD and then discuss current evidence regarding the presentation, etiology, diagnosis, and treatment of depression in AD.
Current Issues in Informal Caregiving Research
Authors: Schulz Richard 
Published: May 2013

AbstractThe goal of this chapter is to provide an up-to-date overview of the current status of informal caregiving with a focus on key unresolved issues in this literature. We begin with a discussion of prevalence of caregiving in the U.S. and show how rates can vary by several orders of magnitude depending on definitions used and populations sampled. Relying on national surveys of caregivers, we next characterize who they are, whom they care for, and the types of tasks carried out by caregivers. This is followed by detailed discussion of both the detrimental and potentially beneficial health effects of caregiving, their causes, and methodological challenges associated with this research area. Mental health effects, particularly depression, figure prominently in the caregiving health effects literature. Caregiver interventions with a focus on emerging innovative treatment strategies are briefly described next. We conclude with five recommendations for future research and policy in this arena.
Post-Stroke Depression and Vascular Depression
Authors: Volk Sarah , Steffens David C. 
Published: May 2013

AbstractBoth acute stroke and silent cerebrovascular disease have been associated with depression. The corresponding diagnostic entities—post-stroke and vascular depression— have each been linked to cognitive impairment, disability, and mortality. Though the underlying mechanisms are not fully understood and may be similar, the literature to date supports two distinct constructs based on differences in clinical features, risk factors, prognosis, and treatment. Post-stroke depression more closely resembles endogenous depression, while vascular depression is associated with specific features of executive dysfunction, anhedonia with limited depressive ideation, psychomotor retardation, disability, absent family history of mood disorder, and poorer response to antidepressant treatment.
Depression and Medical Illness in Late Life
Authors: Mezuk Briana , Gallo Joseph J. 
Published: May 2013

Abstract
In this chapter we set the stage for understanding the dynamic relationship between depression and medical conditions in later life by discussing the growing diversity of the aging population and the wide racial disparities in the burden of medical illness over the life course. We provide and discuss a conceptual framework that emphasizes the potential psychological, behavioral, social, and biological mechanisms through which depression and medical illness interact to cause disability and death. The intersection of stress, resources, depression, health behaviors, medical morbidity, and mortality across the life course provides an opportunity to synthesize our understanding of the sources of health disparities. This model has implications for development of new service delivery models that integrate the care of depression into the care of chronic medical conditions.
Bidirectional Relationships Between Sleep, Insomnia, and Depression
Authors: Chiara Baglioni Mathias Berger, , Riemann Dieter 
Published: May 2013

Abstract
The close relationship between sleep disturbances and depression has been known for a long time. The existing database shows that a combination of disturbances in sleep continuity, sleep architecture and REM sleep occurs more frequently in patients with depression compared to other psychopathological conditions. Theories about sleep abnormalities in depression focussed on neurochemical background or on chrono-biological sleep regulatory models. However, in the last 10 years the research focus has shifted from searching for specific alterations in sleep to a different strategy investigating the predictive value of insomniac symptoms for the development of depression. These data offer interesting perspectives for treatment of depression, with respect to: the predictive role of sleep disturbances for treatment response; the specific effect of antidepressant treatments on sleep; the role of sleep-wake manipulation; the necessity to add treatment for insomnia or to consider its potential preventive effect for future development of depression.
Psychotherapy
Authors: Areán Patricia A. 
Published: May 2013

Abstract
The focus of this chapter is on psychotherapy for late life mood disorders. The reader will be introduced to the evidence-base for psychotherapy in late life depression (LLD), and the methods for making psychotherapy accessible to all older adults, including people who are home-bound/disabled, are seen in primary care medicine, and who suffer from mild to moderate cognitive impairments. In particular, this chapter will provide and introduction to three evidence-based psychotherapies for late life mood disorders, Cognitive Behavioral Therapy (CBT), Problem Solving Therapy (PST) and Interpersonal Therapy (IPT). This chapter concludes with recommendations for future research.
Late-Life Mood Disorders and Home-Based Services and Interventions
Authors: Bazelais Kisha N. , Pickett Yolonda R. , Bruce Martha L. 
Published: May 2013

Abstract
Compared to ambulatory older adults, homebound seniors have exceptionally high rate of depression but poorer access to mental health care. In well defined homebound populations, the prevalence of major depression is generally estimates as 9%-13% with approximately 1/3 having significant depressives symptoms. Many depressed homebound seniors are prescribed antidepressants but symptoms persist more often than not. In-home psychotherapy, delivered face-to-face or by tele-technology, can be effective by addressing psychosocial problems such as disability, social isolation, and limited finances, that are common in the homebound. Successful service delivery models for depression include identification, treatment, and care management. The most feasible approach for implementing these models for homebound older adults is to integrate them into existing home-based care offered by the home health or aging services sectors.
Neuropathological Markers in Late-Life Depression
Authors: Miguel-Hidalgo José Javier , Rajkowska Grazyna 
Published: May 2013

Abstract
Neuroimaging and clinical studies of late-life depression point to neuropathological changes in the prefrontal cortex of subjects with late-life mood disorders. Research on the cellular basis of that neuropathology reveals an age-related increase in neuronal vulnerability in the orbitofrontal and dorsolateral prefrontal cortices, but less so in subcortical regions. Unlike depression earlier in life, late-life depression likely involves activation in the expression of glial markers and possibly enhancement of glial proliferation. The relationship of glial and neuronal changes to neuroimmune disturbances that occur both in depression and during normal aging remains to be fully characterized, although it may be related to inflammatory disruption in the deep white matter of the prefrontal cortex.
Pharmacokinetics and Pharmacodynamics in Late Life
Authors: Bigos Kristin L. , Bies Robert R. , Pollock Bruce G. 
Published: May 2013

AbstractOlder patients are the major recipients of drugs, however most research during drug development is conducted in healthy younger adults. Adverse drug events are common in older adults, but are often preventable. Safe and effective drug therapy requires an understanding of both drug disposition and response in older individuals. Geriatric patients are a heterogeneous population, which is evident in the highly variable drug concentrations and differences in dose-concentration-response relationships. While there is a paucity of data regarding the age-related changes in pharmacokinetic differences in antidepressants, there is increasing evidence that the clearance of some drugs decreases with aging and therefore older patients may experience greater concentrations than younger patients at the same dose. Combined with the fact that older adults seem to be more sensitive than younger patients to adverse effects of antidepressants at lower concentrations, it is critical to control for differences in drug exposure. This chapter reviews the current data on the pharmacokinetics and pharmacodynamics of antidepressants, as well as benzodiazepines, mood stabilizers, and antipsychotics, focusing on differences in age-related changes in drug clearance and drug response, as well as side effects and drug interactions that are more prevalent in older adults.
Functional Brain Imaging in Bipolar Disorder
Authors: Altshuler Lori L. , Townsend Jennifer D. 
Published: May 2013

AbstractThe prefrontal cortex (PFC) integrates and regulates emotional responses. Diminished subcortical and limbic modulation and frontolimbic abnormities may represent substrates for the acute mood episode characteristic of bipolar disorder (BP).This chapter will review fMRI studies performed in subjects with bipolar disorder during manic, depressive or euthymic states. Paradigms using tasks that probe emotion processing, emotion regulation, executive function, working memory and response inhibition have been used to assess activation in specific brain regions. Some abnormalities appear to be state related while others may represent enduring trait deficits.
Fulminant Bacterial Meningitis
Authors: Wijdicks Eelco F. M , Rabinstein Alejandro A 
Published: May 2013

Abstract
Outcome in acute bacterial meningitis is dependent on early initiation of antibiotic treatment. This chapter discusses the pros and cons of corticosteroids, choice of antibiotics, how to rapidly assess the severity of the illness, and how to find the source of the infection.
Respiratory Support in Acute Neuromuscular Respiratory Failure
Authors: Wijdicks Eelco F. M , Rabinstein Alejandro A 
Published: May 2013

Abstract
Assessing the need for respiratory support in acute neuromuscular disease is difficult. This chapter discusses indications of triage to the intensive care unit, the benefits and risks of noninvasive mechanical ventilation and indications of intubation in acute neuromuscular disorders, such as Guillain-Barré syndrome and myasthenia gravis.
Endovascular Recanalization in Acute Stroke
Authors: Wijdicks Eelco F. M , Rabinstein Alejandro A 
Published: May 2013

Abstract
Major hemispheric stroke from large intracranial vessel occlusion may not respond to intravenous thrombolysis and may require a more aggressive endovascular approach. How to make that determination using CT angiogram and CT perfusion is discussed. This chapter mentions currently used mechanical clot disruption devices and what they can achieve.
Decompressive Craniectomy in Acute Stroke
Authors: Wijdicks Eelco F. M , Rabinstein Alejandro A 
Published: May 2013

Abstract
Large hemispheric ischemic strokes may swell, and decompressive craniectomy is sometimes the only way to salvage the patient from certain neurologic death. Not everyone is persuaded by this last-resort measure. Who benefits and how much is discussed.
Hyponatremia After Subarachnoid Hemorrhage
Authors: Wijdicks Eelco F. M , Rabinstein Alejandro A 
Published: May 2013

Abstract
Hyponatremia is a very common electrolyte abnormality in the NICU and in particular after subarachnoid hemorrhage. Evaluation and treatment are discussed. How to calculate rate of infusion of fluids is highlighted.
Evidence-Based Medicine and Statistics in Cardiology
Authors: Rihal Charanjit S. 
Published: May 2013

Abstract
Evidence-based medicine is the conscientious and explicit use of the current best evidence from systematic research to guide medical decision making in the care of individual patients. Its practice takes into consideration 3 elements: clinical setting, scientific evidence, and physician-patient factors. Cardiology examinations test an understanding of the basic principles of biostatistics and their use in medical decision making with statistical questions about the probability of disease or therapeutic outcomes and the evaluation of diagnostic test results. Medical decision making requires the appropriate understanding and application of diagnostic test results, which include historical information, physical examination findings, and laboratory evaluations. The performance of a diagnostic test is assessed by comparing the results of the diagnostic test with the results of a criterion standard in a study population.
Restrictions on Drivers and Aircraft Pilots With Cardiac Disease
Authors: Kopecky Stephen L. 
Published: May 2013

Abstract
This chapter reviews three basic topics: restrictions for those operating a private motor vehicle, restrictions for those operating a commercial motor vehicle, and restrictions for those operating an aircraft. Restrictions for those operating a private motor vehicle are from the National Highway Traffic Safety Administration. There are no clear cut statutory rules for who can or cannot drive. The recommendations are designed to aid the physician when performing a medical evaluation and making recommendations. Drivers of commercial vehicles must be certified as fit-to-drive by a medical practitioner, although there are no statutory rules to follow. The FAA requires all pilots to obtain an airman medical certificate. The ultimate decision to grant a license to an individual pilot is made by the FAA.
Stress Echocardiography
Authors: Pellikka Patricia A. 
Published: May 2013

Abstract
Stress echocardiography is used for detection of coronary artery disease. The technique has evolved into a widely used, versatile technique not only for diagnosis of ischemic heart disease but also for determination of prognosis. The rationale for stress echocardiography is that stress results in wall motion abnormalities in regions subtended by a stenosed coronary artery; these wall motion abnormalities can be detected with echocardiography. Imaging methods, interpretation of findings, and prognostic value are reviewed.
Transesophageal Echocardiography
Authors: Puwanant Sarinya , Sinak Lawrence J. , Chandrasekaran Krishnaswamy 
Published: May 2013

Abstract
Multiplane transesophageal echocardiography allows excellent visualization of all cardiac structures and great vessels. The common clinical indications for transesophageal echocardiography are assessment of complications of myocardial infarction, detection of aortic dissection, diagnosis of infective endocarditis and its complications in native and prosthetic valves, determination of embolic source, visualization of cardiac tumors, evaluation of congenital heart diseases, and assessment of critically ill patients. Transesophageal echocardiography is also a valuable adjunctive imaging method during cardiovascular surgery and percutaneous cardiac interventions.