bluuebunny/crossref_metadata_2025 huggingface dataset:
High postural costs and anaerobic metabolism during swimming support the hypothesis of a U-shaped metabolism–speed curve in fishes
Authors: Di Santo Valentina , Kenaley Christopher P. , Lauder George V.
Published: November 2017

Significance

Hydrodynamic theory predicts that the energetic costs required for fishes to swim should vary with speed according to a U-shaped curve, with an expected energetic minimum at intermediate cruising speeds. Empirical studies to date do not support this view. Here we report a complete dataset on a swimming batoid fish that shows a clear energetic minimum at intermediate swimming speeds. We also demonstrate that this species uses a combination of aerobic and anaerobic metabolism to fuel steady swimming at each speed, including the slowest speeds tested. This contradicts the widespread assumption that fish use only aerobic metabolism at low speeds. Kinematic data support this nonlinear relationship by also showing a U-shaped pattern to body angle during steady swimming.
Energy decomposition analysis of single bonds within Kohn–Sham density functional theory
Authors: Levine Daniel S. , Head-Gordon Martin
Published: November 2017

Significance

While theoretical chemists today can calculate the energies of molecules with high accuracy, the results are not readily interpretable by synthetic chemists who use a different language to understand and improve chemical syntheses. Energy decomposition analysis (EDA) provides a bridge between theoretical calculation and practical insight. Most existing EDA methods are not designed for studying covalent bonds. We developed an EDA to characterize single bonds, providing an interpretable chemical fingerprint in the language of synthetic chemists from the quantum mechanical language of theorists.
Structural insights into enzymatic [4+2]
aza
-cycloaddition in thiopeptide antibiotic biosynthesis
Authors: Cogan Dillon P. , Hudson Graham A. , Zhang Zhengan , Pogorelov Taras V. , van der Donk Wilfred A. , Mitchell Douglas A. , Nair Satish K.
Published: November 2017

Significance

Synthetic [4+2] cycloaddition reactions are prevalent and useful transformations employed in syntheses of valuable products. Coincidentally, nature also takes advantage of this transformation, and several cases of devoted enzymes have been found to facilitate this reaction in the production of small-molecule natural products. Prior examples have involved either carbocyclic or oxygen heterocycle products. Recently, an enzymatic, formal [4+2]
aza
-cycloaddition has been confirmed, featuring a nitrogen atom in the final pyridine structure central to a subset of thiopeptide natural products. The alternative synthetic route to substituted pyridines via cycloaddition has proven energetically challenging, highlighting the significance of these biocatalysts. Here, we report a detailed structural and mechanistic analysis of two such pyridine synthases from thiomuracin and GE2270 biosynthesis.
Tracking the genome-wide outcomes of a transposable element burst over decades of amplification
Authors: Lu Lu , Chen Jinfeng , Robb Sofia M. C. , Okumoto Yutaka , Stajich Jason E. , Wessler Susan R.
Published: November 2017

Significance

Rice (
Oryza sativa
) has a unique combination of attributes that made it an ideal host to track the natural behavior of very active transposable elements (TEs) over generations. In this study, we have exploited its small genome and propagation by self or sibling pollination to identify and characterize two strain pairs, EG4/HEG4 and A119/A123, undergoing bursts of the nonautonomous miniature inverted repeat transposable element
mPing
. Comparative sequence analyses of these strains have advanced our understanding of (
i
) factors that contribute to sustaining a TE burst for decades, (
ii
) features that distinguish a natural TE burst from bursts in cell culture or mutant backgrounds, and (
iii
) the extent to which TEs can rapidly diversify the genome of an inbred organism.
Beating the curse of dimension with accurate statistics for the Fokker–Planck equation in complex turbulent systems
Authors: Chen Nan , Majda Andrew J.
Published: November 2017

Significance

Solving the Fokker–Planck equation for high-dimensional complex dynamical systems is an important issue. Effective strategies are developed and incorporated into efficient statistically accurate algorithms for solving the Fokker–Planck equations associated with a rich class of high-dimensional nonlinear turbulent dynamical systems with strong non-Gaussian features. These effective strategies exploit a judicious block decomposition of high-dimensional conditional covariance matrices and statistical symmetry to facilitate an extremely efficient parallel computation and a significant reduction of sample numbers. The resulting algorithms can efficiently solve the Fokker–Planck equation in much higher dimensions even with orders in the millions and thus beat the curse of dimension. Skillful behavior of the algorithms is illustrated for highly non-Gaussian systems in excitable media and geophysical turbulence.
Translating children’s stories from Chinese to English
Authors: Li Li
Published: November 2017

Translation, according to the German functional approach to Translation Studies, is a purpose-driven interaction that involves many players. Translating children’s stories is no exception. Using her personal experience of translating Mr. Wolf’s Hotline, a book comprising 47 Chinese children’s stories by Wang Yizhen, a contemporary Chinese writer , in light of the Skopos and text-type theories of functional approach in particular, the author has outlined the strategies and methods adopted in her translations in terms of language, structure and culture. With child readers in mind during the translation process, the translator has used rhetorical devices, onomatopoeic words, modal particles, and also changed some of the sentence structures of the stories, such as from indirect sentences into direct quotations, and from declarative sentences into questions. In terms of culture, three aspects, namely, the culture-loaded images, the names of the characters and nursery rhymes are singled out for detailed analyses.

Though marginalized, ‘children’s literature is more complex than it seems, even more complex’ (Hunt 2010: 1), and translation of children’s literature is definitely challenging. This paper outlines the strategies and methods the author has adopted in translating some children's stories from Chinese to English.
Inter-country relationship and mass media
Authors: Han Boyeon , Shin Hochang
Published: November 2017

This study aims to research mass media communication and multipolar relationships in public diplomacy by using announcement of China Air Defense Identification Zone (CADIZ) in November 2013 as a case. Based on importance of mass mediated public diplomacy, to examine wording and message structure, language analysis program of semantic and ego network is applied. In addition, considering the environment of Korean media, newspapers from democratic and conservative are selected. The CADIZ issue takes place in Northeast Asian region but reactions and the relations of the USA are mainly dealt with. The USA is closely connected to China and Korea and has an important influence as a consultant in the given situation. Moreover, Korean media keep monitoring Japan’s response to refer Korea’s response strategy. Semantic and ego network seem to be powerful when analyzing international conflicts. This research shows that international relationship can be a significant asset to public diplomacy. In short, analyzing multipolar relations seems essential to understand construction of related countries and seek to solve diplomatic conflicts.
Nationalism and international disputes in China
Authors: Tam Lisa , Kim Soojin
Published: November 2017

For decades, the territorial dispute between China and Japan over the sovereignty of the Senkaku Islands has caused diplomatic deteriorations in Sino-Japanese relations. When there is extensive media coverage on news about the dispute, nationalist sentiments in both two countries would be triggered and could be expressed through detrimental behaviors towards transnational corporations (hereinafter TNCs). While TNCs play a significant political function as corporate diplomats for their home countries, they are subject to the risk of crises when their home countries are involved in political and economic conflicts with the foreign countries in which they have operations. Against this backdrop, this paper seeks to examine the roles of TNCs with reference to three cases of nationalism-induced crises in China. It proposes relational principles based on which TNCs could implement strategies to mitigate the damage from nationalism-induced crises and contribute to their home countries’ diplomatic goals as corporate diplomats.
The relevance of motility in language shift research
Authors: Houtkamp Christopher
Published: November 2017

Motility (sometimes referred to as ‘mobility capital’ or ‘mobility potential’) is a still understudied and underutilised concept in both migration and sociolinguistic literature. Perhaps even more than actual mobility, it can shed an important light on the possible connection between language and migration. In this theoretical article, it will be argued that motility can both be a potential catalyst for language shift, but can in other instances also contribute to language maintenance. Inspired by Fishman’s Graded Intergenerational Disruption Scale (GIDS) and Simon and Lewis’ Expanded Graded Intergenerational Scale (EGIDS), it is assumed that the most important factor in processes of language shift is the attitude of parents, in particular their willingness to transmit their heritage language to their children. This willingness is connected with the perception of the value of the heritage language, which might be, in addition to other factors, influenced by the mobility capital the heritage language might give future generations. The interplay between migrant networks in different countries and the country of origin is key in understanding the parents’ decision-making process. Furthermore, the three main features of motility (access, competence and appropriation) fit quite logically in the already existing EGIDS scale. This article thus argues that motility is a valuable and necessary concept for sociolinguistic research and migration scholars alike.
Minority language education in Nepal
Authors: Hildebrandt Kristine A. , Krim Jessica S.
Published: November 2017

This article, a case study in one group of communities of Nepal, considers
minority language education in the face of increasing encroachment of the
dominant and national language Nepali. Our over-arching research question asks,
in the context of local education, what we can observe about the perceived
value, use of, and competition between two local languages (Gurung, Gyalsumdo)
and also between these languages and Nepali (the national language of Nepal) in
the Manang District. We find persistent divisions amongst residents and
educators about the current and future role of local languages.
From planned language to language planning
Authors: Wang Yalan , Liu Haitao
Published: November 2017

This paper explores how Esperanto (Esperantists) plays an important role in Chinese language reform during 1911–1958. It divides the period into three stages and describes Esperantists’ activities from three perspectives accordingly: roles, goals/results and motives. The paper reveals Esperantists’ roles have transformed from “people with influence” to “people with expertise” and then “people with power.” From the perspective of goals/results, the first stage failed because it didn’t achieve the goals as expected while the second and third stages were successful. In order to further explain reasons for the failure or success, this article goes on to analyze the three stages from Ager’s7i Model(motives). It shows that these motives as social factors largely affecting language planning are not of paramount importance in accounting for the different results. The paper concludes that the study of planned language will be valuable for language planning through the case of Esperantists’ activities in Chinese language reform and suggests further investigations on different language schemes associated with Esperantists in China.
Asymptotics of diffusion-limited fast reactions
Authors: Seidman Thomas , Muntean Adrian
Published: November 2017

We are concerned with the fast-reaction asymptotics

λ
→
∞

\lambda \to \infty

for a semi-linear coupled diffusion-limited reaction system in contact with infinite reservoirs of reactants. We derive the system of limit equations and prove the uniqueness of its solutions for equal diffusion coefficients. Additionally, we emphasize the structure of the limit free boundary problem. The key tools of our analysis include (uniform with respect to

λ
\lambda

)

L
1

L^1

-estimates for both fluxes and products of reaction and a balanced formulation, where combinations of the original components which balance the fast reaction are used.
Subsampling Inference for the Autocorrelations of GARCH Processes*
Authors: McElroy Tucker , Jach Agnieszka
Published: November 2017

We provide self-normalization for the sample autocorrelations of power GARCH(p, q) processes whose higher moments might be infinite. To validate the studentization, whose goal is to match the growth rate dependent on the index of regular variation of the process, we substantially extend existing weak-convergence results. Since asymptotic distributions are non-pivotal, we construct subsampling-based confidence intervals for the autocorrelations and cross-correlations, which are shown to have satisfactory empirical coverage rates in a simulation study. The methodology is further applied to daily returns of CAC40 and FTSA100 indices and their squares.
The Multimodal Treatment of Children with ADHD (MTA) Follow-up Study
Authors: Roy Arunima , Hechtman Lily
Published: November 2017

The Multimodal Treatment of Children with ADHD (MTA) study was a 14-month randomized clinical trial with naturalistic follow-ups of participants (579 children with ADHD and 259 matched community controls) after treatment for a total of 16 years. Results from this study showed a superiority of multimodal treatment regimens for ADHD compared with the commonly available community care. Nevertheless, symptom and functioning improvements brought about by multimodal therapy lapsed after cessation of therapy. In short, the MTA study showed that ADHD is a chronic condition, requiring continuous, long-term, and well-monitored treatments. Furthermore, results showed that ADHD symptoms persist into adulthood in about half the sample, and that persistence is associated with poorer outcomes than remission or no childhood ADHD.
Neural Circuits for Context Processing in Aversive Learning and Memory
Authors: Maren Stephen
Published: November 2017

The nature and properties of emotional expression depend importantly on not only the stimuli that elicit emotional responses, but also the context in which those stimuli are experienced. Deficits in context processing have been associated with a variety of cognitive-emotional disorders, including post-traumatic stress disorder (PTSD). These deficits can be localized to specific neural circuits underlying context processing in the mammalian brain. In particular, the hippocampus has been implicated through numerous animal and human studies to be involved both in normal contextual memory formation, but also in discrimination of trauma-related cues. Decreased hippocampal functioning, as is observed in PTSD, is associated with increased generalization of fear and threat responses as well as deficits in extinction of fear. Understanding context processing offers the opportunity to further understand the biology of PTSD and to target new approaches to therapeutics.
Limbic Pathways to Stress Control
Authors: Herman James P.
Published: November 2017

Appropriate control of the HPA (hypothalamo-pituitary-adrenocortical axis) is required for adaptation to physiological and environmental challenges. Inadequate control is linked to numerous stress-related pathologies, including PTSD, highlighting its importance in linking physiological stress responses with behavioral coping strategies. This chapter highlights neurocircuit mechanisms underlying HPA axis adaptation and pathology. Control of the HPA stress response is mediated by the coordinated activity of numerous limbic brain regions, including the prefrontal cortex, hippocampus, and amygdala. In general, hippocampal output inhibits anticipatory HPA axis responses, whereas amygdala subnuclei participate in stress activation. The prefrontal cortex plays an important role in inhibition of context-dependent stress responses. These regions converge on subcortical structures that relay information to paraventricular nucleus corticotropin-releasing hormone neurons, controlling the magnitude and duration of HPA axis stress responses. The output of these neural networks determines the net effect on glucocorticoid secretion, both within the normal adaptive range and in pathological circumstances.
Genetics of PTSD
Authors: Sumner Jennifer A. , Bustamante Angela C. , Koenen Karestan C. , Uddin Monica
Published: November 2017

Trauma exposure and PTSD are heritable. However, the mechanisms of risk and resilience following trauma exposure are not yet well understood, suggesting that investigations into the genetic architecture of PTSD have much to contribute. This chapter reviews the rapidly growing literature on molecular genetic risk factors for PTSD, including findings from candidate gene and genome-wide association studies. Given the critical role of trauma exposure in the onset of PTSD, it also discusses gene-environment interplay, and highlights some recent findings from epigenetic studies. The chapter concludes by summarizing considerations for the field as it continues to move forward, and discusses exciting new developments in the search for genetic markers for PTSD.
Neuropsychiatric Features Across Neurodegenerative Diseases
Authors: Padilla Claudia R. , Mendez Mario F.
Published: November 2017

Neuropsychiatric symptoms (NPS) are a major manifestation of neurodegenerative diseases(NDDs) including Alzheimer’s disease (AD), Dementia with Lewy Bodies (DLB) and frontotemporal dementia (FTD). NPS symptoms are a determining factor impacting economic and psychological costs for both the patient and their caregivers in these devastating illness. Recent developments in neuroscience have clarified the relationship of NPS with changes in brain structures, alterations in neural circuits and networks, and their neurotransmitter systems. It is increasingly recognized that NPS shared across different NDDs might have shared alterations in neural circuits and networks, and their neurotransmitter systems and ways to modulate them theraputcally. This chapter focuses on the more common NPS and their links to causative neurodegenerative processes that transcend specific diseases.
Brain Circuits
Authors: Zhou Juan , Seeley William W.
Published: November 2017

Each neurodegenerative disease is defined by selectively vulnerable neurons, regions, networks, and functions, as well as genetic risk factors. In the past decade, new network-sensitive neuroimaging methods have made it possible to test the notion of network-based degeneration in living humans. This chapter focuses on two common causes of dementia, Alzheimer’s disease (AD) and frontotemporal dementia (FTD), but uses these diseases to illustrate class-wide neurodegeneration principles whenever possible. It first introduces two key concepts of neurodegenerative disease selective vulnerability: onset and progression. In parallel, it addresses two distinct but related observations about neurodegenerative disease: clinico-anatomical convergence and phenotypic heterogeneity. It then examines disease onset and models of progression in more detail, based on available neuroimaging evidence. Finally, it touches on the most important frontiers in the field of network-based neurodegeneration.
An Epigenetics Perspective on Diseases of the Central Nervous System
Authors: Mastroeni Diego F.
Published: November 2017

In the next two decades epigenetics could revolutionize understanding and treatment of diseases of the central nervous system. New research already demonstrates that manipulation of epigenetic mechanisms in vivo and in vitro can ameliorate a host of pathogenic processes associated with neurodegenerative disorders such as Alzheimer’s disease (AD), Parkinson’s (PD), amyotrophic lateral sclerosis (ALS), Huntington’s (HD), and multiple sclerosis (MS), among others. These advances have come relatively rapidly for a field that is still in its infancy compared to the much longer history of epigenetics in developmental biology. Epigenetic modifications are all-encompassing, from nucleotides to amino acids. They are capable of altering transcriptional to biochemical activity in a consistent manner across thousands of genes and hundreds of biologic pathways, yet they can do so differentially even in individuals or cells with identical gene codes. As such, epigenetic modifications are likely to touch on virtually all the mechanisms described in this book.
Mitochondrial Changes and Bioenergetics in Neurodegenerative Diseases
Authors: Knott Andrew B. , Bossy-Wetzel Ella
Published: November 2017

Mitochondria are dynamic organelles that are of critical importance for cellular survival and health. Because mitochondria play central roles in energy production and synaptic maintenance, neurons are believed to be particularly vulnerable to mitochondrial dysfunction. The discovery that genetic mutations in genes coding for mitochondrial proteins cause neurodegenerative conditions further hinted at the likelihood that mitochondrial dysfunction is a key pathway of neurodegeneration. Indeed, a wealth of research has identified mitochondrial dysfunction as an early and shared event of all common neurodegenerative diseases, both genetic and sporadic in origin. Specific types of mitochondrial dysfunction that have been observed in most neurodegenerative diseases include bioenergetic failure, increased oxidative stress, mitochondrial DNA mutations, defective calcium handling, impaired mitochondrial dynamics, defective mitophagy, and decreased mitochondrial biogenesis. The search for drugs that successfully target these pathways of mitochondrial dysfunction in neurodegeneration is ongoing.
Animal Models of Neurodegenerative Diseases
Authors: Baglietto-Vargas David , Ager Rahasson R. , Medeiros Rodrigo , LaFerla Frank M.
Published: November 2017

The incidence and prevalence of neurodegenerative disorders (e.g., Alzheimer’s disease (AD), Parkinson’s disease (PD), and Huntington’s disease (HD), etc.) are growing rapidly due to increasing life expectancy. Researchers over the past two decades have focused their efforts on the development of animal models to dissect the molecular mechanisms underlying neurodegenerative disorders. Existing models, however, do not fully replicate the symptomatic and pathological features of human diseases. This chapter focuses on animal models of AD, as this disorder is the most prevalent of the brain degenerative conditions afflicting society. In particular, it briefly discusses the current leading animal models, the translational relevance of the preclinical studies using such models, and the limitations and shortcomings of using animals to model human disease. It concludes with a discussion of potential means to improve future models to better recapitulate human conditions.
Metal-Protein Attenuating Compounds in Neurodegenerative Diseases
Authors: Lei Peng , Ayton Scott , Bush Ashley I.
Published: November 2017

Neurodegenerative disorders including Alzheimer’s (AD), Parkinson’s disease (PD), Huntington’s disease (HD), and amyotrophic lateral sclerosis (ALS) are progressive diseases of the aging population with currently few therapeutic options. While aggregation and deposition of disease-specific proteins link the pathologies of these diseases, targeting these aggregating proteins with therapeutics has not yet been successful in clinical trial. This chapter profiles metals (copper, zinc, and iron) as alternative drug targets for neurodegeneration. Complex changes to metals occur in these neurodegenerative diseases. Accumulating evidences have demonstrated that perturbations to metal homeostasis contribute to the progression of neuronal dysfunction and death. Importantly, several phase II trials have shown that correcting metal dyshomeostasis improves clinical outcomes; the chapter argues that it is now time to explore the therapeutic utility of metal-based drugs in larger, phase III trials.
Clinical Trials and Drug Development in Neurodegenerative Diseases
Authors: Cummings Jeffrey L. , Zhong Kate
Published: November 2017

This chapter describes the common therapeutic targets, approaches to clinical trial design, biomarkers, and therapeutic interventions across neurodegenerative disorders (NDDs). Each unique NDD-Alzheimer’s disease (AD), Parkinson’s disease (PD), amyotrophic lateral sclerosis (ALS), etc.-has a unique phenotype associated with the regional cell population most affected. Each disease, however, is associated with protein misfolding, oxidation, inflammation, apoptosis, and cell death. If vulnerable cell populations include transmitter source nuclei, transmitter deficits also emerge (e.g. cholinergic abnormalities in AD and dopaminergic deficits in PD). Biomarkers show regionally appropriate brain atrophy or process-related cerebrospinal deficits. Clinical trial designs share features for symptomatic interventions (e.g. cholinesterase inhibitors in AD and dopamine agents in PD) and disease-modifying therapies. Biomarkers play similar roles in trials for NDD, including demonstrating target engagement and supporting disease modification. No disease-modifying therapies have been approved for any NDDs; all programs face similar pharmacokinetic, pharmacodynamic, and regulatory challenges in therapeutic development.
Johnson & Johnson
Authors: Quelch John A. , Knoop Carin-Isabel
Published: November 2017

Every company has a public health footprint and should strive to insure that this is as positive as possible. The public health footprint stems from (a) the benefits and costs associated with using the company’s products and service, (b) the wellness of the company’s direct employees and those workers engaged in the company’s supply chain, and (c) the environmental impact of the company’s activities.
Carolinas Healthcare System
Authors: Quelch John A. , Rodriguez Margaret L.
Published: November 2017

As health care costs continue to rise, there is increasing interest in engaging consumers to take more responsibility for their own health. Doing this requires the integration of data or a patient’s health from multiple sources, plans, education and motivation of individual consumers with appropriate managing.
Philips Healthcare
Authors: Quelch John A. , Rodriguez Margaret L.
Published: November 2017

As health care costs continue to rise, there is increasing interest in engaging consumers to take more responsibility for their own health. Doing this requires the integration of data or a patient’s health from multiple sources, plans, education and motivation of individual consumers with appropriate managing.
Access Health CT
Authors: Quelch John A. , Norris Michael
Published: November 2017

Not only must consumers receive and respond to motivating messages, they must then be able to afford to take the actions required of them and be able to access the solutions. Barriers to adoption of innovations include the compatibility of the innovation with existing ways of doing things, the innovation’s complexity, communicability, relative advantage and the ease with which it can be tried.
Rana Plaza
Authors: Quelch John A. , Rodriguez Margaret L.
Published: November 2017

Several forces are increasing the voices of individuals in shaping health care policy. Smart phones enable multiple health care apps, hopefully increasing consumer responsibility for their own health. Workplace safety issues in developing economies are motivating the buyers of products made in unsafe factories to press the brand-owners to take action. And individual consumer interest in drug innovation and availability is even affecting public policy thinking about drug company mergers and acquisitions.
Oscillator Basics
Authors: Montgomery Erwin B.
Published: November 2017

This chapter uses metaphors to help programmers picture the basic concepts of oscillators. At the least, DBS can be considered as oscillatory stimulation of the nervous system and increasingly, it is likely that the nervous system operates on the bases of neuronal and neural oscillators. Thus, a fundamental understanding of oscillators, particularly their features, is important. The defining feature of oscillatory activity is the recurrence or repetition of a phenomenon, such as the repetitive flashing of a light at a railroad crossing. This chapter uses the metaphor of a racecar circling on a racetrack that become increasing more complicated. The metaphors provide an appreciation of the features and properties of oscillators, such as amplitude, frequency, phase, period, and reasonance. The metaphors also provide an intuitive understanding of the methods used to decompose and analyze complex oscillators such as the Fourier Transform.
Subject Perspectives
Authors: Dresser Rebecca
Published: November 2017

This chapter describes a serious omission in research ethics and oversight. Regulations and guidelines governing human subject research were largely created by professionals. Although members of the general public are sometimes included in research ethics deliberations, they play a minor role. Strikingly, people who know what it is like to be a research subject are rarely part of these activities. Personal experience as a study subject produces knowledge relevant to research ethics and policy. Professionals and public representatives often assume they are representing subjects’ perspectives without having a solid evidentiary basis for this assumption. Scholarship in a variety of fields supports the inclusion of experienced research subjects in ethical and policy decision-making. Experienced subjects’ perspectives on research have been neglected for too long. Progress in research ethics and oversight will require deeper engagement with the individuals who personally experience study participation.
Participants as Partners in Genetic Research
Authors: Dresser Rebecca
Published: November 2017

This chapter focuses on subject-centered developments in genetic research. Modern genetic research requires scientists to collect, store, and study DNA samples and health information from thousands of people. In the past, researchers have been allowed to use DNA samples and information without consent. Researchers have not been required to explain study results to subjects, nor have they been required to compensate people who contribute samples and health information to genetic studies. Experts developed these practices without input from the people whose contributions are essential to the genetic research enterprise. A growing amount of evidence shows that many research subjects and prospective subjects disagree with these traditional approaches. For ethical and practical reasons, subjects should have a greater role in determining how genetic research is conducted.
Introduction
Authors: de Melo-Martín Inmaculada
Published: November 2017

This chapter presents the philosophical approach used to evaluate mainstream defenses of reprogenetic technologies, one that attends to context, is gendered, and recognizes the value-laden nature of these technologies. It also offers an overview of the rest of the chapters.
Reprogenetic Technologies
Authors: de Melo-Martín Inmaculada
Published: November 2017

This chapter offers a brief description of the main reprogenetic technologies in use today as well as some of the most significant ones being developed. Because of their relevance in the field, particular attention is given to in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD). The chapter discusses the differences between somatic and germline modifications, the most common uses of reprogenetic technologies today, and some possible and likely future uses. It also includes a description of recent technological advances such as mitochondrial transfer and gene editing techniques.
The Illusion of Control
Authors: de Melo-Martín Inmaculada
Published: November 2017

One of the most common arguments in favor of reprogenetic technologies is their presumed ability to defy the lack of control and the dangers implicit in the “natural lottery” that results from normal human reproduction. This chapter challenges proponents’ claims about the control that reprogenetic technologies will afford us. By proponents’ own account, human beings lack the intellectual wherewithal to aptly control the so-called natural lottery. Even if one were to concede human beings’ wisdom, the degree of control over the natural lottery that reprogenetic technologies are said to grant is illusory, the result of misunderstanding human biology and the role of genetics.
Intimacy Versus Isolation
Authors: Wise Joseph E.
Published: November 2017

This chapter charts the course and history of psychodynamic theoretical thinking as it relates to intimacy, both sexual and affiliative. Theory is considered in light of development, especially Erickson’s developmental stage of intimacy versus isolation. Clinical problems related to the injured patient, including post-traumatic symptoms, symptoms as a result of physical injury, and psychological response to physical injury, are discussed. A case example of a physically injured patient with post-traumatic stress disorder (PTSD) is considered in order to demonstrate how theory applies to clinical work. The case addresses intimacy in light of PTSD, physical injury, and psychological sequelae of injury.
Strategies, Modifications, and Adaptations for Intimate Relationships and Sexual Activity
Authors: Ellis Kathryn , Dennison Caitlin
Published: November 2017

This chapter reviews various suggested interventions for improving sexual experience and managing intimate relationships. Strategies are geared toward increasing the service member’s perception of self and perceived success as both a sexual and a romantic partner, and toward enhancing a couple’s communication. Strategies are tailored to specific limitations and consist of modification to environment, schedule, and behavior, as well as adaptations and use of equipment, including medical devices, positional aids, and pleasure toys, with the goal of enhancing intimacy as well as pleasure and a focus on occupational therapy. Lastly, a composite case study is detailed to assist with processing and applying the information discussed.
Post-Traumatic Stress Disorder and Sexual Intimacy
Authors: Greenberg Jennifer H.
Published: November 2017

This chapter is designed to guide clinicians in assisting service members to navigate the return from combat with regards to post-traumatic stress disorder (PTSD) and intimacy. The service members (and, by extension, their spouses) who served during Operation Iraqi Freedom/Operation Enduring Freedom are struggling with not only physical wounds from combat but also psychological/invisible wounds, including PTSD and traumatic brain injury (TBI). The symptoms of PTSD and TBI, including fatigue, irritability, insomnia, depression and cognitive deficits, overlap, and as a result, it can be difficult for clinicians and patients alike to tease out the specific diagnoses. Thus, this chapter discusses PTSD and intimacy issues for service members and spouses and provides recommendations for designing therapeutic interventions. Three case studies illustrate these interventions. Suggestion resources are also included.
Environmental Chemicals and their Effects on Human Physiology
Authors: Maruniak Joel A.
Published: November 2017

Environmental chemicals interact with the normal processes occurring in human bodies in many detrimental ways. Chapter 3 discusses the basic mechanisms by which exposures to environmental chemicals perturb normal homeostasis; interfere with the communication systems that coordinate proper functioning of cells, tissues, and organs; and modify gene expression by inducing epigenetic changes. Environmental chemicals disrupt homeostasis in adults, but fetuses, infants, children, and adolescents, whose homeostatic control systems are continuing to develop, are at the greatest risk for long-term adverse health outcomes due to even brief exposures during vulnerable periods in development.
Diet, Environmental Chemicals, and the Gut Microbiome
Authors: Singh Marvin M. , Mullin Gerard E.
Published: November 2017

This chapter reviews the latest research on gut health and addresses the nutritional and environmental effects on the gut microbiome, a key player in pathogenesis of diseases such as inflammation, intestinal permeability, obesity, metabolic syndrome, diabetes, cardiovascular disease, and neurologic conditions. The 100 trillion microorganisms that cohabit within each of us play a critical role in maintaining health and preventing disease. Many factors can alter and interact with the microbiome, including nutrition, genetics, and environmental exposures. Clinicians need to understand these relationships to help patients make the informed decisions that can impact their daily lives and the health of subsequent generations.
Pesticides and Neurodegenerative Disorders
Authors: McBurney John W.
Published: November 2017

Neurodegenerative diseases, which are characterized by neuronal degeneration, include Alzheimer disease (AD), Parkinson disease (PD), and amyotrophic lateral sclerosis (ALS). Their worldwide prevalence is increasing as the global population ages. The causes reflect interactions between genetics and environmental factors such as increasing urbanization, industrialization, and widespread use of chemicals, including insecticides, fungicides, and herbicides. Epidemiologic data suggest that exposure to many of these pesticides increases the risk of neurodegeneration. The best-defined mechanism for this association is mitochondrial toxicity resulting in increased reactive oxygen species. In PD and AD, the associated accumulation of aggregates of insoluble, misfolded proteins results in the formation of Lewy bodies and neurofibrillary tangles, respectively. Pesticide exposures can be reduced by modifying food choices and applying integrated pest management in schools, businesses, and homes. Medical professionals can counsel patients about limiting exposure to pesticides and decreasing the risk of neurodegenerative disorders.
Disinfection in the 21st Century
Authors: Hunt Patricia A. , Hrubec Terry C. , Melin Vanessa E.
Published: November 2017

Use of personal care products and household and commercial cleaners with antibacterial capabilities has increased human exposure to an array of chemicals. Because these products are washed down the drain, they are discharged with wastewater into fields, lakes, streams, oceans, and municipal water systems. This chapter focuses on the uses, persistence, routes of human exposure, and potential health effects of four common environmental chemicals or chemical classes—parabens, triclosan, triclocarban, and quaternary ammonium compounds—because exposure to them is ubiquitous, environmental contamination is significant, and evidence of harm has emerged. These man-made environmental contaminants illustrate how the rapid introduction of new chemicals into consumer products must be weighed against the unavoidable environmental contamination and potential biologic effects that may ensue.
A 54-Year-Old Male with Right-Hand Weakness
Authors: Cohen Jeffrey A. , Mowchun Justin J. , Lawson Victoria H. , Robbins Nathaniel M.
Published: November 2017

Early in its course, amyotrophic lateral sclerosis (ALS) is mistaken for a number of other neuromuscular problems, including spinal disease, multifocal motor neuropathy, and even carpal tunnel syndrome (CTS) when the weakness is distal and focal. In our patient CTS or cervical spine disease was considered. MRI scan of the appropriate spinal level is important to rule out spinal disease. Nerve conduction studies (NCS) and electromyography (EMG) help to exclude other possibilities and point to the diagnosis of ALS. Later in the clinical course, the clinical picture is pathognomonic with upper and lower motor neuron signs. The differential diagnosis of focal weakness is discussed, as is recognition of the more typical ALS clinical syndrome and familial ALS. NCS and EMG findings in ALS are discussed.
A 48-Year-Old with Progressive Weakness and Pain
Authors: Cohen Jeffrey A. , Mowchun Justin J. , Lawson Victoria H. , Robbins Nathaniel M.
Published: November 2017

Guillain-Barré syndrome may present in several ways, although predominant proximal weakness is a common feature of the disease to recognize. The differential diagnosis may be extensive and can include infection, vasculitis, toxin exposure, and malignancy. A lumbar puncture must be done with minimal delay to evaluate for cerebrospinal fluid (CSF) albuminocytological dissociation, however results may be normal early in the course of the disease. EMG/NCS are helpful to support the diagnosis, and early treatment with intravenous immunoglobulin (IVIG) is essential. This chapter discusses the clinical features and diagnostic considerations of this important condition.
A 40-Year-Old Female with Balance Problems and Numbness After Bariatric Surgery
Authors: Cohen Jeffrey A. , Mowchun Justin J. , Lawson Victoria H. , Robbins Nathaniel M.
Published: November 2017

A number of nutritional causes of peripheral neuropathy have been identified. Patients who have gastrointestinal disease or who have undergone bariatric surgery are at risk, although frequently the specific cause is not ascertained. Vitamin B12 and thiamine deficiencies are the most common causes in bariatric surgery patients. The classic clinical picture of Vitamin B12 deficiency is a myelopathy with a concomitant peripheral neuropathy. Thiamine deficiency is the classic triad of mental status changes, opthalmoplegia, and ataxia. Copper deficiency is often unrecognized. Its presentation can be similar to Vitamin B12 deficiency. It is important that bariatric surgery patients receive continual follow up of their nutritional status and adherence to vitamin supplementation. Alcohol may cause a peripheral neuropathy through nutritional deficiency or perhaps direct toxic effects. Other deficiency states are discussed.
A 55-Year-Old Female with a History of Right Foot Drop and Left Hand Weakness
Authors: Cohen Jeffrey A. , Mowchun Justin J. , Lawson Victoria H. , Robbins Nathaniel M.
Published: November 2017

Vasculitic neuropathy often presents as a mononeuritis multiplex pattern. Ischemic nerve injury can lead to abrupt-onset, painful, and multifocal sensorimotor neuropathy. This chapter emphasizes the diagnostic considerations of vasculitic neuropathy, which includes the significant limitations of serologic markers in non-systemic vasculitic neuropathy. Nerve and muscle biopsy are important investigations to consider to make the diagnosis. Keys to management are also reviewed. It is important to manage systemic vasculitis with a rheumatologist. Nonsystemic vasculitis has a much better prognosis; immunosuppressive treatment is less aggressive, but it is recommended to have a rheumatologist’s input. There is no conclusive evidence on how to treat nonsystemic vasculitis. Mild cases may be treated with steroids alone.
A 40-Year-Old Female with Increasing Arm Pain and Numbness
Authors: Cohen Jeffrey A. , Mowchun Justin J. , Lawson Victoria H. , Robbins Nathaniel M.
Published: November 2017

Neurogenic thoracic outlet syndrome (NTOS) is an uncommon cause of chronic arm pain and numbness but should not be missed. It can lead to chronic pain and disability. Symptoms of NTOS are often aggravated by arm exertion and elevation and tend to occur after exercise rather than activity. A thorough diagnostic evaluation is key, which includes provocative tests, imaging, electromyography/nerve conduction study, and diagnostic injections. Electromyography/nerve conduction study (EMG/NCS) are recommended for NTOS as it is important to exclude an entrapment neuropathy or cervical radiculopathy that may be misdiagnosed as NTOS. EMG/NCS is usually normal in NTOS, however, in severe presentations, the EMG/NCS pattern is most consistent with a lower trunk plexopathy. Treatment options of NTOS are also described in this chapter.
A 41-Year-Old Male with Foot Drop and Malaise
Authors: Cohen Jeffrey A. , Mowchun Justin J. , Lawson Victoria H. , Robbins Nathaniel M.
Published: November 2017

Distal, symmetric polyneuropathy can occur in a number of conditions including in association with HIV infection. The most common neurologic complication of HIV infection is a painful, distal sensory polyneuropathy (HIV-DSP). Other neuromuscular manifestations of HIV are myriad especially in the setting of fluctuating immunocompetence and the potential impact of neurotoxic medications. In the patient described in the case, peroneal neuropathy as the cause for foot drop is suggested by ankle dorsiflexion and eversion weakness with preservation of inversion and knee flexion strength. Mononeuropathy in the setting of HIV should prompt consideration of vasculitic, lymphomatous, and infectious causes, some of which can manifest with systemic findings. A rare neuromuscular complication of HIV-infected patients with sicca symptoms suggestive of Sjogren’s syndrome is diffuse infiltrative lymphocytosis syndrome. This syndrome can manifest as an acute or subacute painful sensory polyneuropathy but also as a mononeuropathy multiplex. This is discussed in the chapter.
A 50-Year-Old Woman with Burning Feet
Authors: Cohen Jeffrey A. , Mowchun Justin J. , Lawson Victoria H. , Robbins Nathaniel M.
Published: November 2017

Small-fiber neuropathy typically presents with burning pain or with widespread brief stabbing pains, by atypical presentations including asymmetric sensory symptoms are common. Nerve conduction studies are usually normal, as this disorder test only interrogates large fiber function; in small-fiber neuropathy the pathology is restricted to smaller unmyelinated fibers. Autonomic neuropathy can accompany the painful peripheral neuropathy but can be difficult to recognize since the symptoms can be protean. In this chapter, clinical characteristics of small-fiber and autonomic neuropathy are discussed. Various diagnostic modalities are described, including the benefits and pitfalls of available options. The most common conditions causing small-fiber and autonomic neuropathy are reviewed. The controversy surrounding impaired glucose tolerance as an etiological factor is dicusssed. We discuss the available medications and outline a rational approach to treatment.
A 52-Year-Old Female with Weakness and Droopy Eyelids
Authors: Cohen Jeffrey A. , Mowchun Justin J. , Lawson Victoria H. , Robbins Nathaniel M.
Published: November 2017

Myotonic dystrophy type 1 affects multiple organ systems and is associated with cardiac, endocrine, and ophthalmological disorders. Executive dysfunction can lead to missed appointments and an apathetic attitude, causing patients to underestimate symptoms. The findings of both clinical and electrical myotonia should suggest myotonia congenita, DM1, or DM2. Myotonic dystrophy demonstrates anticipation, where the disease has an earlier onset and more severe course with subsequent generations due to increasing trinucleotide repeats. Therefore, the diagnosis can be heralded in an adult by his/her affected child. Management of the disorder is supportive, addressing issues relating to loss of strength, cardiac conduction defects, endocrinopathies (regular monitoring with glycosylated hemoglobin and thyroid-stimulating hormone). Diagnosis and management of this disorder is discussed.