bluuebunny/crossref_metadata_2025 huggingface dataset:
Neuro-ophthalmology
Authors: Barker Lucy , Plant Gordon T. , Davagnanam Indran
Published: November 2017

The focus of this chapter is on neuro-ophthalmology. The chapter starts off by outlining the anatomy of the visual pathway, pupil reflex anatomy, cranial nerve anatomy, and the central control of ocular motility. It goes on to discuss neuro-ophthalmology history taking and examination, and neuroimaging. It continues with a discussion of chiasmal and retrochiasmal visual pathway disorders, optic nerve disorders, papilloedema and idiopathic intracranial hypertension, and congenial optic nerve disorders. In addition, it discusses cranial nerve palsies, nystagmus, supranuclear eye movement disorders, pupil abnormalities, headache, and non-organic visual loss. The chapter concludes with a discussion of neuromuscular junction disorders and ocular myopathies.
Professional skills and behaviour
Authors: Barker Lucy , Solebo Ameenat Lola , Hingorani Melanie , Bladen John
Published: November 2017

This chapter discusses professional skills and behaviour in ophthalmology. It starts off by detailing good medical practice, as set forth by the General Medical Council. It then addresses information governance, with a discussion of the Data Protection Act 1988, the roles of the Information Commissioner’s Office and the Caldicott Guardian, and the use or disclosure of confidential information, as well as the Freedom of Information Act 2000, electronic health records, and the Royal College of Ophthalmologists’ national ophthalmic audit programme. It then goes on to discuss clinical governance and risk management, clinical leadership, and NHS management, education, and training. Communication and consent, research, statistics, and the Ophthalmic Trainees’ Group are also addressed. The chapter concludes with a discussion concerning the safeguarding of patients.
Palliative medicine: Historical record and challenges that remain
Authors: Clark David
Published: November 2017

With its growing recognition by the early decades of the twentieth century, palliative medicine was moving from the margins to a more central place within medicine. Much had been achieved and there was growing evidence of palliative care’s successes around the world. At the same time, there were ongoing concerns about the quality of the evidence base to support its practices. There were questions about the relationship between palliative care and end-of-life care. There was also the challenge of delivering good care to all who might need it in the face of serious and life-threatening illness in an era of population growth and ageing. There seemed to be many ways to conceptualize and deliver palliative care. Would this lead to global coverage and spread, and what would be the particular role of palliative medicine within the process? This chapter concludes with reflections on progress to date and challenges for the future.
The applicability of trials of complex mental health interventions
Authors: Fairall Lara , Zwarenstein Merrick , Thornicroft Graham
Published: November 2017

The evidence on what interventions are currently known to be effective in mental health is summarized in the 2009 PLoS Medicine series on packages of care for mental, neurological, and substance-use disorders in LAMIC and the WHO mhGAP guidelines published in 2010. But far less is known about how best to deliver and scale-up these interventions in real-life settings. How to translate this evidence into practice, in ways that are culturally appropriate and sensitive has been identified as the key research priority in global mental health. This chapter discusses the potential contribution of trials to the genesis of interventions that are both effective and highly applicable to real-world settings by considering two frameworks : the development–evaluation–implementation process proposed by the Medical Research Council (MRC) in Britain in their 2000 and 2008 guidance on developing and evaluating complex interventions and the PRagmatic Explanatory Continuum Indicator Summary (PRECIS) tool.
Defining relevant outcomes
Authors: Bolton Paul , Bass Judith
Published: November 2017

Defining relevant outcomes for mental health and related intervention trials requires consultation with a range of experts and stakeholders and the population for whom the services are being provided. The latter is not often consulted systematically, but doing so is necessary to ensure that their priorities are addressed within the study objectives and outcomes, and that instruments measure the outcomes accurately. Doing so will increase the likelihood that the services being tested, if found effective, will be sustained after the trial is completed. Changes in the types of outcomes assessed in these trials are not static. Once the intervention is over these changes may continue to accumulate or decline with time. Wherever possible it is important to measure outcomes over time, at specific intervals after the intervention is completed. Outcomes that measure amount of change will be more appropriate to tracking long-term impacts of interventions.
Economic evaluations in global mental health
Authors: Mosweu Iris , McCrone Paul
Published: November 2017

This chapter discusses the importance of undertaking economic evaluations in mental health and the subsequent use of the results to inform policy relating to priority setting, resource allocation, or simply scaling up mental health services in low and middle income settings. We present examples o f economic evaluations conducted either alongside clinical trials or using economic models, in LAMIC. We also point out challenges that researchers in these settings may encounter and possible ways of dealing with these, but at the same time acknowledging that economic evaluation does not provide all solutions for issues facing mental health in the developing world. Access to services, affordability, equity, and stigma also need to be given a priority, while economic evaluation first needs to be understood and approved by policy makers, before it can be adopted.
Trials of interventions for people with alcohol use disorders
Authors: Elena Medina-Mora María , Noknoy Sairat , Cherpitel Cheryl , Real Tania , Velasco Román Pérez , Marín Navarrete Rodrigo , Amador Nancy , Horigian Viviana E.
Published: November 2017

Schizophrenia is a severe mental disorder that causes serious and persistent disability in multiple domains. People with schizophrenia are also often exposed to widespread sigma, discrimination, and human rights abuse. There is a large and persistent treatment gap for people with schizophrenia and their caregivers globally and in LAMIC;To address this gap, emerging observational evidence from LAMIC suggests that a task-sharing strategy involving community health workers (CHWs) is a feasible option for delivering services to people with schizophrenia and their families . However, there is no RCT evidence from LAMIC that such an approach is more effective than usually available care. The community care for people with schizophrenia in India (COPSI) RCT tested the clinical and cost-effectiveness of a collaborative community-based care (CCBC) intervention with usual, facility-based care (FBC). The FBC + CCBC intervention was superior in reducing symptoms and disability associated with schizophrenia and in improving adherence with treatment.
Trials of interventions for people with dementia
Authors: Dias Amit , Motghare Dilip , Acosta Daisy , Roy Jacob , Jotheeswaran A.T. , Martins Ralph N.
Published: November 2017

There is very little awareness in LAMIC of people with dementia and the treatment gap ranges from 70%–90%. This chapter highlights the tremendous scope for well-designed RCTs to test innovative interventions that would be affordable and effective for the people with dementia and their families in low-resource settings. The Dementia Home Care Project demonstrates the process of developing and evaluating an intervention, to test the effectiveness of a flexible, stepped-care, psychosocial intervention, designed using locally available resources to help families of people with dementia. Non-specialist health workers were trained to deliver an intervention at the residence of the person with dementia in Goa, India. The trial concluded that locally available resources could be utilized to decrease the burden and burnout associated with caring for a person with dementia and should be integrated with primary health care in LAMIC to bridge the treatment gap for dementia.
Evaluation of interventions in the real world
Authors: De Silva Mary J. , Cohen Alex , Patel Vikram
Published: November 2017

The goal of global mental health trials is to generate knowledge that can be implemented in the much messier ‘real world’. However, the effect of interventions in the real world may be different from, and most likely much smaller than, the effect sizes reported in trials. It is therefore essential that we evaluate their implementation and effect when they are ‘scaled-up’ as real programmes. The evaluation of scaled-up health programmes typically involves the use of multiple methods which are triangulated to address the key questions of the programme leaders or investigators. This chapter aims to describe what outcomes we might be interested in evaluating and the methods we might use to assess these outcomes, and presents selected case studies which demonstrate these methods in action.
Selection of subjects for study
Authors: Elwood Mark
Published: November 2017

This chapter discussed principles of subject selection and defines target, source, eligible, entrant and participant populations. Selection issues and selection bias may affect internal validity, external validity, and modify the hypothesis being tested. It shows methods to reduce selection biases and to define participation rate and response rate. Principles for the selection of the exposed or test group and the comparison groups are shown for all studies. In randomised trials, intention-to-treat analysis, contamination, blinding, data monitoring, stopping rules, the CONSORT format, and trial registration are discussed. For observational studies, it shows the purpose of control groups, issues of definition and choice of controls, institutional and community controls, and frequency and individual matching. Many examples are given.
The diagnosis of causation
Authors: Elwood Mark
Published: November 2017

This chapter brings the book together, showing the overall scheme of assessment of causation for one study or in many studies, based on 20 questions in five sections. The scheme includes describing the key features of the study; then assessing observation bias, confounding, and chance variation. The chapter presents the consideration of the positive features of causation: the Bradford Hill guidelines of time relationship, strength, dose-response, consistency, and specificity, leading to an assessment of internal validity. External validity (generalisability) relates to the eligible, source, and target populations. Comparisons with other studies assess consistency and specificity further, but also plausibility and coherence, including analogy and experimental evidence. The chapter shows the overall decision process. Applications to non-causal associations, other types of study, and in designing a study are discussed. In part two, the chapter shows applications of causal reasoning to clinical care and health policy, including hierarchies of evidence, methods used by important groups, and the GRADE system.
Critical appraisal of a retrospective cohort study
Authors: Elwood Mark
Published: November 2017

This chapter presents a retrospective cohort study of workers from 10 countries exposed to chlorophenoxy herbicides, assessing cancer mortality. It shows the need for large collaborative international studies, and the methods used. The results are not clearly supported by toxicological and animal experimental evidence, and the question remains open. The critical assessment follows the scheme set out in chapter 10: describing the study, assessing the non-causal explanations of observation bias, confounding, and chance variation; assessing time relationships, strength, dose-response, consistency and specificity, and applying the results to the eligible, source, and target populations; and then comparing the results with evidence from other studies, considering consistency and specificity, biological mechanisms, and coherence with the distribution of exposures and outcomes. The chapter gives a summary and table of the critical assessment and its conclusions; and comments on the impact of the study and research carried out since.
Critical appraisal of a matched case–control study
Authors: Elwood Mark
Published: November 2017

This chapter presents a matched case-control study, of historical importance as the first report of an important aetiological relationship which was subsequently confirmed. It shows the methods for a small matched study, and the complexities of separating the effects of a treatment from the effects of indications for the treatment. The critical assessment follows the scheme set out in chapter 10: describing the study, assessing the non-causal explanations of observation bias, confounding, and chance variation; assessing time relationships, strength, dose-response, consistency and specificity, and applying the results to the eligible, source, and target populations; and then comparing the results with evidence from other studies, considering consistency and specificity, biological mechanisms, and coherence with the distribution of exposures and outcomes. The chapter gives a summary and table of the critical assessment and its conclusions; and comments on the impact of the study and research carried out since.
Basic concepts
Authors: Streiner David L. , Norman Geoffrey R. , Cairney John
Published: November 2017

This chapter begins by introducing the readers to finding existing scales that may meet their needs. It briefly summarizes the key concepts they should look for in a scale—reliability, validity, and feasibility. It discusses what is meant by these various terms and how they are measured. The chapter also contrasts the categorical versus the dimensional approaches to diagnosis and classification. Finally, it compares the medical versus the psychometric ways of trying to reduce measurement error.
Selecting the items
Authors: Streiner David L. , Norman Geoffrey R. , Cairney John
Published: November 2017

Not all of the items that have been generated will prove to be useful. This chapter discusses the criteria of a good item, such as its reading level, lack of ambiguity, asking only a single question, freedom from jargon, being worded in a positive direction, and length. Another consideration is the distribution of responses, whether all response alternatives have been used by at least some of the respondents, and when items with very low endorsement frequencies may actually be useful. It also discusses the homogeneity of the scale and the various ways of measuring it (e.g. KR-20, split-halves, and Cronbach’s alpha). Finally, it discusses when homogeneity is and is not important, and which statistical tests should not be used when homogeneity is not required.
Biases in responding
Authors: Streiner David L. , Norman Geoffrey R. , Cairney John
Published: November 2017

Scale constructors hope that people will respond to the items by giving thoughtful and honest answers to every item. However, there are many biases that conspire against this, including end-aversion bias, social desirability bias, yea- and nay-saying, and others. The chapter discusses the different perspectives of the scale constructor and the respondent, and how this leads to some forms of bias. Answering questions is not as easy as we may imagine; there are many cognitive demands imposed by doing so, and these, too, can introduce other biases. The chapter also covers the effects of framing (how the question is worded), as well as the difficulties that are encountered in attempting to measure change. Finally, it discusses various ways of conducting cognitive interviews to ensure that the questions are being responded to as accurately as possible.
From items to scales
Authors: Streiner David L. , Norman Geoffrey R. , Cairney John
Published: November 2017

This chapter discusses various issues that are involved in combining individual items to form a single scale. The topics covered include whether or not to weight the each of the items to reflect its supposed importance. Another consideration is whether items should be weighted differently for each person based on their salience or importance to that individual. Related to this is ‘implicit’ weighting, where various subscales of an instrument have differing numbers of items. The chapter then discusses various ways of transforming the final score in order to normalize them. Finally, it describes different methods of setting cut points based on the distribution and expert judgement.
Item response theory
Authors: Streiner David L. , Norman Geoffrey R. , Cairney John
Published: November 2017

Over the past few decades, there has been a revolution in the approach to scale development. Called item response theory (IRT), this approach challenges the notion that scales must be long in order to be reliable, and that psychometric properties of a scale derived from one group of people cannot be applied to different groups. This chapter provides an introduction to IRT, and discusses how it can be used to develop scales and to shorten existing scales that have been developed using the more traditional approach of classical test theory. IRT also can result in scales that have interval-level properties, unlike those derived from classical test theory. Further, it allows people to be compared to one another, even though they may have completed different items, allowing for computer-adapted testing. The chapter concludes by discussing the advantages and disadvantages of IRT.
Nerve, muscle, and neuromuscular junction
Authors: Zwarts Machiel J.
Published: November 2017

Essential to all living creatures is the ability to convey information. In addition motor responses are required, for example running. This all is possible due to the ability of specialized cells to conduct information along the cell membrane by means of action potentials (AP) made possible by the charged cell membrane, which has selective permeability for different ions. Voltage and ligand sensitive ion channels are responsible for sudden changes in selective permeability of the membrane resulting in local depolarization of the membrane. The neuromuscular junction is a highly specialized region of the distal motor axon that is responsible for the transferring of activation from nerve to muscle. All these systems and subsystems can fail and a thorough understanding is necessary in order to understand the changes a clinical neurophysiologist can encounter while recording from the human nervous system in cases of disorders of brain, nerve and muscle.
Electromyography
Authors: Stålberg Erik
Published: November 2017

Electromyography (EMG) has been used since the 1940s in the diagnosis of neuromuscular disorders. It has particularly developed with the advent of computers and recording equipment with integrated software. This has made methods of analysis fast, robust, and precise, helping to deal with increasing numbers of patients. Indications have changed dynamically over the years, with the development of new EMG methods themselves and complementary methods used in this field for diagnosis such as histochemistry, genetics, and imaging techniques. This chapter focuses mainly on the routine methods based on recordings with concentric or monopolar needle electrodes, but will also briefly review some of the other EMG methods. There is an increasing understanding of the relationship between the generators (muscle fibres) and the recorded signal that helps interpretation of the recordings. The parameters used for quantitation of the EMG signal are discussed. The findings in pathological conditions are discussed and some practical hints on EMG studies given.
Magnetoencephalography
Authors: Furlong Paul L. , Foley Elaine , Witton Caroline , Seri Stefano
Published: November 2017

For presurgical assessments for resection of an epileptogenic lesion or zone, evaluations over the last 20 years have established magnetoencephalography (MEG) as a valuable tool in routine clinical practice in both adult and paediatric age groups. MEG can accurately localize both ictal and inter-ictal spike sources. MEG yields important additional information in around 30% of patients with epilepsy of suspected neocortical origin, aiding in the modification or extension of invasive measurements. Seizure freedom is most likely to occur when there is concordance between electroencephalogram (EEG) and MEG localization, and least likely to occur when these results are divergent. In some patients, invasive recordings may not be viable or repeatable. In these cases, MEG localization frequently provides additional information for planning surgery. Recent developments in technology for movement compensation and enhanced noise reduction provide optimism for continually improving outcomes of MEG-enhanced presurgical evaluations.
Transcranial magnetic stimulation
Authors: Mills Kerry R.
Published: November 2017

Transcranial magnetic stimulation (TMS) has been exploited to advance knowledge of corticospinal physiology and, in a number of conditions, to aid diagnosis and quantify corticospinal abnormalities. The basic physics of magnetic stimulation is described along with the effects of stimulating coils with different dimensions and shape. The effects of single TMS pulses over motor cortex to cause a descending volley of D and I waves, and their effects on spinal motor neurons resulting in a motor evoked potential (MEP) are described. Guidelines for the safe use of TMS are given. Methods to estimate useful clinical measures of corticospinal function, such as threshold, MEP amplitude, central motor conduction time, silent period and input:output relation are given, as is the means to quantify corticospinal conduction using the triple stimulation technique. The clinical utility of TMS in neurodegenerations, central demyelinating diseases, stroke, spinal cord disease, movement disorders, and functional disorders is discussed.
Evoked potentials
Authors: Buchner Helmut
Published: November 2017

Evoked potentials (EPs) occur in the peripheral and the central nervous system. The low amplitude signals are extracted from noise by averaging multiple time epochs time-locked to a sensory stimulus. The mechanisms of generation, the techniques for stimulation and recording are established. Clinical applications provide robust information to various questions. The importance of EPs is to measure precisely the conduction times within the stimulated sensory system. Visual evoked potentials to a pattern reversal checker board stimulus are commonly used to evaluate the optic nerve. Auditory evoked potentials following ‘click’ stimuli delivered by a headset are most often used to test the auditory nerve and for prognostication in comatose patients. Somatosensory evoked potentials to electrical stimulation of distal nerves evaluate the peripheral nerve and the lemniscal system, and have various indications from demyelinating diseases to the monitoring of operations and prognosis of comatose patients.
The clinical approach to neurophysiology
Authors: Mills Kerry R.
Published: November 2017

The clinical approach to neurophysiology provides a scheme for the conduct of a neurophysiological examination from the initial contact with the patient to the provision of a final report. The importance of focused history-taking and physical examination in tailoring the test plan is stressed as is the necessity of maintaining rapport with the patient. The difficult issues of consent and what to tell the patient at the end of the examination are discussed. The importance of honest communication with the patient is highlighted. Test results are judged against a framework of normal values. The statistics of defining such reference values and the many factors that may influence them are covered. Finally, there is a discussion of the safety of neurophysiological procedures with suggestions as to how to mitigate against the main risks, such as bleeding diathesis in EMG and seizures with transcranial magnetic stimulation.
Primary muscle diseases
Authors: Kennett Robin P. , Aurangzeb Sidra
Published: November 2017

This chapter on primary muscle diseases explains how analysis of compound muscle action potential (CMAP) amplitude, abnormal spontaneous activity on needle electromyography (EMG), and motor unit action potentials (MUAP) characteristics may be used to give an indication of pathophysiological processes, and goes on to describe the combination and distribution of abnormalities that may be expected in the more commonly encountered myopathies. The conditions considered in detail are inflammatory myopathy (including myositis), critical illness myopathy, disorders with myotonia, inherited myopathy (including muscular dystrophy), and endocrine, metabolic and toxic disorders. Each of these has a characteristic combination of CMAP, spontaneous EMG, and MUAP findings, but the systematic approach to clinical neurophysiology as a way of understanding muscle pathophysiology can be used to investigate the myriad of rare myopathies that may be encountered in clinical practice.
Genetic generalized epilepsy
Authors: Moeller Friederike , Pressler Ronit M. , Cross J. Helen
Published: November 2017

This chapter provides an overview of generalized epilepsies (GGE), which comprises a group of epilepsy syndromes of presumed genetic origin. They are classified into several syndromes according to their age, depending on clinical manifestation and associated electroencephalogram (EEG) features. The chapter introduces the concept of GGE before addressing different GGE syndromes, describing their clinical presentation, EEG features, treatment, prognosis, and underlying genetics. The following GGE syndromes are discussed in order of their age of onset—myoclonic astatic epilepsy, childhood absence epilepsy, epilepsy with myoclonic absences, eyelid myoclonia with absences, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic seizures on awakening. This is followed by an overview on pathophysiological mechanisms underlying GGE.
Convulsive and non-convulsive status epilepticus
Authors: Walker Matthew C.
Published: November 2017

This chapter describes the definition, epidemiology, classification, diagnosis, and treatment of status epilepticus, concentrating on the roles that electroencephalography (EEG) plays. The term status epilepticus now encompasses a range of conditions from continuous convulsive seizures to clinically subtle non-convulsive seizures, which may manifest as changes in behaviour or personality. EEG is critical for the diagnosis of non-convulsive status epilepticus. Furthermore, the progression of convulsive status epilepticus is to an electromechanical dissociation in which continuous electrical seizure activity may have no or minimal clinical manifestations. In the later stages of status epilepticus, EEG is necessary to monitor treatment, but is confounded by the interpretation of periodic EEG patterns, which represent a continuum from interictal through to ictal activity. Post-status epilepticus EEG patterns have prognostic value: periodic epileptiform discharges, burst suppression patterns (off anaesthesia) and repetitive seizure activity are indicative of a poor long-term prognosis.
From gut feeling to evidence base: drivers and barriers to the development of health care for older people
Authors: Knight Paul V.
Published: November 2017

Key points

• Major advances in medicine, policy, and services for older people have been made over the past fifty years.

• The numbers of older people in the UK and elsewhere are increasing and will continue to do so.

• This increase has concomitant sociological, medical, and economic challenges that need to be met because they affect the provision of services at all levels.

• These challenges are occurring at a time when resources are becoming scarcer and budgets shrinking.

• Governments are faced with orchestrating infrastructure and policy in this demanding and complex scenario.

• Managers are attempting to do more with less.

• Clinicians and other medical professionals are trying to base treatments on sound evidence-based strategies.

• There is recognition of the need to include older people and the general public in these processes.

• Research may provide us with information that can help resolve these problems.
Depressions in later life: heterogeneity and co-morbidities
Authors: Anderson David
Published: November 2017

Key points

• Depression in older people is among the most disabling of conditions.

• Depression is the most common and treatable mental disorder in later life.

• Depression in older people is undertreated in absolute terms and compared to younger adults.

• Depression is a heterogeneous disorder: objectively defining sub-types will be essential to developing more specific treatments.
Sleep in older people
Authors: Harbison Joe
Published: November 2017

Key points

• Sleep structure and pattern change with age, sleep typically becoming lighter and more fragmented.

• While sleep disorders may not be independently associated with age, they occur more commonly in older people due to co-morbidity.

• Common ‘minor’ medical conditions may seriously impair sleep quality.

• Neurological conditions such as stroke, Parkinson’s, and dementia are often associated with sleep disorders which can be difficult to treat.

• Circadian rhythm disorders are common in older people; primary insomnia is rare.

• Respiratory sleep disorders are also common but their significance in many people is uncertain.

• Effective treatments are available for restless legs syndrome and related disorders.
Stroke units: research in practice
Authors: Kalra Lalit
Published: November 2017

Key points

• Stroke units are the cornerstone of quality stroke care.

• The benefits of stroke unit care are supported by a very strong evidence base

• In 2007 the National Stroke Strategy mandated that all stroke patients should have prompt access to stroke unit care.

• Despite policy and guidelines, only 62% stroke patients were treated on specialist stroke units in 2010.

• Patients spend long periods of inactivity on stroke units; multidisciplinary teams need to encourage rehabilitation activities outside therapy sessions.

• Rehabilitation needs to be family- and carer-oriented to prepare patients for life after discharge.
Stroke care: what is in the black box?
Authors: Christine Roffe
Published: November 2017

Key points

• Most improvements in stroke care to date have been driven by research.

• Immediate access to advanced imaging allows fast decision making, is cost-effective, and improves outcome.

• Hyperacute interventions for acute ischaemic and haemorrhagic stroke can prevent permanent brain damage and reduce disability.

• Strokes and stroke complications do not just happen during working hours: 24/7 working is essential for effective stroke management.

• High quality nursing care is essential and has been shown to have a major impact on survival.

• Pneumonia is the most common post-stroke complication, and can be prevented by early swallow assessment.

• Urinary catheters are associated with infections and should be avoided.

• Foot pumps reduce thromboembolism and save lives.
The critical care continuum
Authors: Adam Sheila , Osborne Sue , Welch John
Published: November 2017

This chapter provides an overview of the development and expansion of critical care, to include early intervention and enhancement of recovery. This is based on the patient’s acuity and need for intervention rather than their location. It includes early recognition of, and response to, acute deterioration in patients in order to prevent irreversible organ damage or death. The use of tools such as the National Early Warning Score (NEWS) to identify these patients is described. The chapter covers the critical care outreach and medical emergency team concepts, as well as surviving sepsis and avoiding acute kidney injury initiatives. Peri-operative optimization to mitigate the impact of surgery and the need to follow up patients post-critical care admission to enhance recovery and prevent re-admission are also included.
The critical care environment
Authors: Adam Sheila , Osborne Sue , Welch John
Published: November 2017

This chapter details the optimal location, design, structure, staffing, and equipment required to support high quality critical care. The chapter covers the impact of the critical care environment on patients, family, and staff themselves. The use of technology, including clinical information systems and electronic patient records, is described. Staffing numbers and roles and the importance of team working and collaboration as a key factor in the effectiveness of the critical care environment are also covered. The impact of cleanliness and infection control features as part of the design. The role that the environment has in mitigating the impact on patients in critical care as well as improving outcomes is described as well as other aspects of safety within critical care.
Renal problems
Authors: Adam Sheila , Osborne Sue , Welch John
Published: November 2017

The kidneys normally excrete metabolic waste products in urine while maintaining fluid, electrolyte, and acid–base balance. However, critical illness frequently leads to renal impairment, loss of these functions, and potentially life-threatening complications. This chapter describes the functional anatomy and physiology of the renal system, important risk factors for acute kidney injury, and how renal function can be monitored and maintained. The methods, advantages, disadvantages, and practical management of different types of renal replacement therapy are discussed, together with essential aspects of holistic patient care.
Managing major incidents and preparing for pandemics
Authors: Adam Sheila , Osborne Sue , Welch John
Published: November 2017

This chapter covers the definitions and types of major incidents, including the planning and preparation for critical care areas and the role critical care staff will play. The principles of triage and planning for increasing critical care capacity are outlined. It refers back to lesson learnt from significant major incidents such as the Madrid bombing and Hurricane Katrina. Blast injuries, including their impact and their management, are outlined. The planning and management of pandemics is discussed including personal protective equipment and the support needed for staff.
Gastrointestinal and hepatic
Authors: Beed Martin , Sherman Richard , Mahajan Ravi
Published: November 2017

Gastrointestinal haemorrhage

Acute severe pancreatitis

The acute abdomen

Acute bowel ischaemia

Intra-abdominal hypertension

Hepatic failure, hepatic encephalopathy, and hepatorenal syndrome

Haemorrhage may occur in the upper (oesophagus, stomach, or duodenum) or lower GI tract (small bowel or colon). Severity can vary greatly from trivial to immediately life-threatening. It may be the cause of critical care admission, or occur as a complication of ICU care....
Infections
Authors: Beed Martin , Sherman Richard , Mahajan Ravi
Published: November 2017

Sepsis

Fever

Airway infections and mediastinitis

Pneumonia and empyema

Infective endocarditis

Neurological infections

Skin and orthopaedic infections

Urological infections

Abdominal infections

Meningococcal sepsis

Legionella pneumonia

Tetanus

Botulism

Toxic shock syndrome and Panton–Valentine leucocidin infections

Anthrax

Enteric fever (typhoid)

Malaria

Viral haemorrhagic fevers

Pandemic influenza and SARS...
Surgical patients
Authors: Beed Martin , Sherman Richard , Mahajan Ravi
Published: November 2017

Postoperative sepsis

Wound dehiscence

Major postoperative haemorrhage

Haemorrhage after cardiac surgery

TUR syndrome

Bronchopleural fistula

Postoperative pain

Patients commonly develop SIRS in the immediate postoperative period 2° to ↑cytokine levels caused by the surgical tissue trauma. This is normally a self-limiting response that subsides within 48 hours. Persistent SIRS, or the development of end-organ dysfunction, should prompt examination and investigations to elucidate the cause....
Poisoning and overdose
Authors: Beed Martin , Sherman Richard , Mahajan Ravi
Published: November 2017

Emergency management

Analgesics

Antidepressants

Sedatives

Inhaled poisons

Industrial chemicals

Alcohols and hydrocarbons

Recreational drugs

Miscellaneous poisons

Poisoning or overdose (OD) may be intentional or unintentional. It can occur via ingestion, injection, or inhalation, and rarely by transdermal or other routes. It may be obvious from the history and presentation, but a high index of suspicion may also be required....
Incidents and adverse events
Authors: Beed Martin , Sherman Richard , Mahajan Ravi
Published: November 2017

Suspected outbreaks

Major incidents

Adverse events, managing the aftermath

Suspected outbreaks may be associated with infections, biological agents, or poisonings (chemical, nutritional, or radioactive). Suspicious circumstances include: intelligence of a threat, multiple cases, simultaneous outbreaks elsewhere, and illness affecting a particular community.

• Illnesses which do not fit any recognizable clinical condition....
Autism and Autism Spectrum Disorders: Clinical Overview
Authors: Joseph Lisa , Spence Sarah , Thurm Audrey
Published: November 2017

Autism spectrum disorders (otherwise known as pervasive developmental disorders) are neurodevelopmental conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviors. In order to provide a framework for appreciating the advances that basic science and model systems have made to the field, this chapter will outline the behaviorally defining features of the disorder and describe the phenotype of autism. We will present the current diagnostic conceptualization and criteria for autism spectrum disorders, discuss the diagnostic assessment process, explore frequently co-occurring problems in individuals with autism, and introduce various types of treatments that are frequently employed in this population.
An Overview of the Genetics of Autism Spectrum Disorders
Authors: Buxbaum Joseph D.
Published: November 2017

There is very good evidence for a strong genetic component to the autism spectrum disorders (ASDs), which include autistic disorder, Asperger syndrome, pervasive developmental disorder not otherwise specified, and Rett syndrome. At the same time, identifying the loci contributing to ASD risk has proven difficult because of extreme heterogeneity. However, in spite of these difficulties, many ASD loci have been identified and, even using current clinical measures, an etiological diagnosis can be given in upward of 20% of cases. With the introduction of “second-generation” sequencing, gene discovery in ASDs will accelerate. As genes are being discovered, functional analyses are leading to potential novel therapeutics, and there is great optimism for more effective treatments in ASDs arising from gene discovery. In the current review, some of the important findings in ASD genetics will be outlined, as will the next steps in ASD genetics.
Rett Syndrome: On Clinical and Genetic Features, and Experimental Models Based on MeCP2 Dysfunction
Authors: Calfa Gaston , Percy Alan K. , Pozzo-Miller Lucas
Published: November 2017

Chapter 5 reviews the features of Rett syndrome (RTT) and its genetic bases, as well as the role of MECP2 in neurodevelopment at the clinical as well as molecular and cellular levels, exploring potential neurobiological mechanisms shared with other autism spectrum disorders.
Mecp2 Knockout in Mouse Models of Rett Syndrome
Authors: Adachi Megumi , Monteggia Lisa M.
Published: November 2017

Chapter 6 reviews the phenotypes of the constitutive Mecp2 KO mutant mice, those generated by expressing RTT -causing mutations, and conditional Mecp2 KO mice in comparison to clinical phenotypes presented in patients with RTT. It also covers therapeutic approaches currently reported using these RTT -model mice.
SHANK Gene Family and Autism
Authors: Powell Craig M.
Published: November 2017

SHANK3 deletion/mutation is an independently replicated, genetic cause of autism (Durand et al., 2007; Gauthier et al., 2009; Moessner et al., 2007) and is the major causative gene in the 22q13 deletion syndrome known as Phelan-McDermid syndrome (Bonaglia et al., 2011; Bonaglia et al., 2001; Bonaglia et al., 2006; Chen et al., 2011; Delahaye et al., 2009; Dhar et al., 2010; Jeffries et al., 2005; Misceo et al., 2011; Sarasua et al., 2011; Wilson et al., 2003). Patients with Phelan-McDermid syndrome uniformly have delayed or absent speech and many carry the diagnosis of autism spectrum disorder (Cusmano-Ozog, Manning, & Hoyme, 2007; Havens, Visootsak, Phelan, & Graham, 2004). More recently, mutations in SHANK2 have been implicated in autism and intellectual disability (Berkel et al., 2010; Pinto et al., 2010). These recent human genetic findings provide a compelling rationale for developing a comprehensive understanding of SHANK3 function in synapses, circuits, and behavior, resulting in three different novel genetic mouse models published by more than four independent laboratories (Bangash et al., 2011; Bozdagi et al., 2010; Peca et al., 2011; Wang et al., 2011). Such studies shed light on the underlying biology of autism caused by SHANK3 mutations. This chapter examines in detail the evidence supporting a role for SHANK genes in autism and intellectual disability as well as insights from the recent genetic animal models of SHANK3 mutations.
Neuroligins and Neurexins: Bridging the Synaptic Cleft in Autism
Authors: Powell Craig M. , Boucard Antony A.
Published: November 2017

Animal models of autism are now prolific as human genetic findings in autism provide a compelling rationale for developing bona fide mouse models of subtypes of human autism/mental retardation. Furthermore, these findings provide the opportunity to understand at a molecular, cellular, and circuit level the pathogenesis of a subset of ASDs. This chapter introduces neuroligins and neurexins, their function, their genetic link to autism, genetic mouse models of autism based on neuroligin and neurexin mutation/deletion, and the potential for understanding the pathogenesis and ultimately treatment of ASDs linked to these genes. This chapter is updated and adapted from an earlier published version (Powell & Boucard, 2010).
CNTNAP2 and Autism Spectrum Disorders
Authors: Peñagarikano Olga , Geschwind Daniel H.
Published: November 2017

Although autism was described in the early 1940s as a disorder of affective contact (Kanner, 1943), it was not classified as a neurodevelopmental disorder with a biological basis until the early 1980s, when studies reported its high heritability (Folstein & Rutter, 1977; Ritvo et al., 1985) and co-occurrence with chromosomal abnormalities (Gillberg & Wahlstrom, 1985; Wahlström et al., 1986). Today, autism is considered a heterogeneous neurodevelopmental syndrome and therefore termed autism spectrum disorder (ASD), characterized by variable deficits in social behavior and language, restrictive interests, and repetitive behaviors. Autism spectrum disorder has an estimated prevalence of 1:150–1:200 (Centers for Disease Control and Prevention, 2007), being one of the most common childhood disorders. In addition to the core domains necessary for diagnosis, a number of other behavioral abnormalities are frequently associated with ASD, including epilepsy, sensory abnormalities, hyperactivity, motor abnormalities, sleep disturbances, and gastrointestinal symptoms (Geschwind, 2009).
Chromosome 15q11.2q13.3 Aneusomies and Autism Spectrum Disorders
Authors: Wu David J. , Schanen Carolyn
Published: November 2017

Chapter 17 discusses Chromosome 15, which is a small, satellited acrocentric chromosome that shows remarkable structural complexity in the proximal long arm, and which leads to a host of rearrangements that have been implicated in human genetic disorders. Interpretation of potential genotype–phenotype relationships for the unique and overlapping deletions and duplications that have been identified must consider key structural and functional elements that impact the complement of genes that are ultimately misexpressed.
Paradigm 4: Science Is the Best Guide for Programmes
Authors: Stuart Heather , Arboleda-Flórez Julio , Sartorius Norman
Published: November 2017

Chapter 5 discusses a key assumption of the current paradigm governing anti-stigma work, which is that scientifically collected data, rather than subjective beliefs or personal wants, will be the yardstick against which funding priorities will be measured and program effectiveness will be judged. The important premise is that evidence-based policy and practice will eliminate potentially discriminatory variations in practice, remove political influence as a determinant of program worth, and ultimately lead to greater fairness and equity in service delivery. It is also predicted that evidence demonstrating the effectiveness of stigma-reduction programs that target local needs and build better practices will boost confidence among funders that such programs are worthy of their financial attention and make it increasingly difficult for policy makers to defend policies that disadvantage people with a mental illness.
Paradigm 8: Community Care Is Destigmatizing
Authors: Stuart Heather , Arboleda-Flórez Julio , Sartorius Norman
Published: November 2017

Chapter 9 addresses how there have been many negative consequences for people with a mental illness as a result of the rapid deinstitutionalization of mental hospitals without appropriate community services to provide a safety net. These have included criminalization, increased stigmatization, social exclusion, poor quality of care, and poorer health outcomes. It covers how these problems challenge the notion that the community mental health movement has been a destigmatizing force leading to greater social participation for people with a mental illness. Because they are now more visible, and often less supported by treatment systems, people with a mental illness living in the community may be at greater risk of experiencing social stigma.
Program Monitoring and Evaluation
Authors: Stuart Heather , Arboleda-Flórez Julio , Sartorius Norman
Published: November 2017

Chapter 17 reviews the importance of evaluating anti-stigma programs and suggests that this should be approached with an eye to understanding the key active ingredients of the program as well as identifying things that may not have worked as planned. It addresses how creating a culture of critical reflection is a key to using evaluation findings to improve program delivery. It also argues that a combination of qualitative data and quantitative data is important if a rich understanding of program processes and effects is to be achieved. Finally, it identifies the importance of communicating results widely, in the academic literature and through reports and presentations that are relevant to policy audiences.