bluuebunny/crossref_metadata_2025 huggingface dataset:
Signs and symptoms of psychiatric disorders
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Chapter 1 is concerned with the definition of the key symptoms and signs of psychiatric disorders. Having elicited a patient’s symptoms and signs, the psychiatrist needs to decide how far these phenomena fall into a pattern that has been observed in other psychiatric patients. It covers whether the clinical features conform to a recognized syndrome by combining observations about the patient’s present state with information about the history of the condition. The value of identifying a syndrome is that it helps to predict prognosis and to select an effective treatment. It does this by directing the psychiatrist to the relevant body of accumulated knowledge about the causes, treatment, and outcome in similar patients.
Evidence-based approaches to psychiatry
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Chapter 6 discusses evidence-based medicine (EBM), which is a systematic way of obtaining clinically important information about aetiology, diagnosis, prognosis, and treatment. The evidence-based approach is a process in which the following steps are applied: formulation of an answerable clinical question, identification of the best evidence, critical appraisal of the evidence for validity and utility, implementation of the findings, and evaluation of performance. The principles of EBM can be applied to a variety of medical procedures. For psychiatry, the main use of EBM at present is to assess the value of therapeutic interventions.
Reactions to stressful experiences
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Chapter 8 begins with a description of the various components of the response to stressful events, including coping strategies and mechanisms of defence. The classification of reactions to stressful experience is discussed next. The various syndromes are then described, including acute stress reactions, post-traumatic stress disorder, special forms of response to severe stress, and adjustment disorders. The chapter ends with an account of special forms of adjustment reaction, including adjustment to bereavement (grief) and to terminal illness, and the problems of adults who experienced sexual abuse in childhood.
Paranoid symptoms and syndromes
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Chapter 12 begins with definitions of the common paranoid symptoms, expanding upon their descriptions in Chapter 1, and then reviews the causes of such symptoms. Next there is a short account of paranoid personality. This is followed by a discussion of primary psychiatric disorders with which paranoid symptoms are frequently associated, and the differentiation of these disorders from delusional disorders. The general features of delusional disorder and its major subtypes are then reviewed. A historical perspective is also given, with particular reference to paranoia and paraphrenia. The chapter ends with a summary of the assessment and treatment of patients with paranoid symptoms.
Dementia, delirium, and other neuropsychiatric disorders
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

In this chapter we cover the range of disorders conventionally considered under the heading of neuropsychiatry, which include delirium—acute, generalized cognitive impairment in the setting of altered consciousness, dementia—chronic, generalized cognitive impairment in clear consciousness, (as with delirium, the syndrome of dementia can be caused by many separate disease processes (this chapter covers the clinical features and aetiology of dementia)), amnestic (or amnesic) syndromes— circumscribed deficits in memory, epilepsy, head injury, other neuropsychiatric disorders, including focal cerebral syndromes, infections, tumours, and multiple sclerosis, and secondary or symptomatic neuropsychiatric disorders—disorders such as depression and anxiety which, in particular cases can be attributed directly to a neuropsychiatric cause (e.g. psychosis due to cerebral vasculitis).
The misuse of alcohol and drugs
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

The phrases substance use disorder (DSM-IV) or disorders due to psychoactive drug use (ICD-10) are used to refer to conditions arising from the misuse of alcohol, psychoactive drugs, or other chemicals such as volatile substances. In this chapter, problems related to alcohol will be discussed first under the general heading of alcohol use disorders. Problems related to drugs and other chemicals will then be discussed under the general heading of other substance use disorders.
Drugs and other physical treatments
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Chapter 19 is concerned with the use of drugs and other physical treatments, such as electroconvulsive therapy and neurosurgical procedures, and covers a history of physical treatments, general considerations, the classification of drugs used in psychiatry, and other physical treatments.
Child psychiatry
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Chapter 22 is concerned with a number of general issues concerning psychiatric disorder in childhood, including its frequency, causes, assessment, and management. This chapter also contains information about the principal syndromes encountered in the practice of child psychiatry. The chapter does not provide a comprehensive account of child psychiatry. It is an introduction to the main themes for psychiatrists who are undertaking specialist general training. It is expected that they will follow it by reading a specialist text such as one of those listed under further reading. Learning disability among children is considered in a separate chapter. Although this is a convenient arrangement, the reader should remember that many aspects of the study and care of children with learning disability are similar to those described in this chapter.
Forensic psychiatry
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Chapter 24 is concerned with other aspects of psychiatry and the law covered by the term forensic psychiatry, which is used in two ways: narrowly, it is applied to the branch of psychiatry that deals with the assessment and treatment of mentally abnormal offenders; and broadly, the term is applied to all legal aspects of psychiatry, including the civil law and laws regulating psychiatric practice.
Electrophysiological Approaches to the Movement Disorder Patient
Authors: Cordivari Carla
Published: February 2014

Neurophysiological techniques are an objective way of investigating movement disorders and can support the clinical diagnosis as well as monitoring their severity and the effects of treatment. Over the past 25 years there have been enormous advances in our understanding of the pathophysiology of movement disorders, and this has been paralleled by the broadening range of investigative techniques available to clinicians. Many of these techniques, particularly transcranial magnetic stimulation (TMS), have been extremely useful in supporting clinical findings. However, the inter-individual variability in the responses, particularly for TMS, has resulted in difficulties in translating this method into a definite clinically applicable diagnostic use. As a result, many neurophysiological methods are still only used for research purposes.

In this chapter we will discuss the most common neurophysiological tests. These should be always interpreted in conjunction with clinical features. These techniques may disclose information that cannot be obtained by clinical observation alone.
Overview of Parkinsonism and Approach to Differential Diagnosis
Authors: Spielberger Sabine , Poewe Werner
Published: February 2014

Parkinsonism is one of the most common movement disorders and may be the clinical manifestation of a variety of neurodegenerative, structural, toxic, metabolic, infectious, and vascular disorders. Since therapy and prognosis differ considerably between different forms of parkinsonism, an early correct diagnosis is of great clinical significance but may be challenging on clinical grounds alone.

Ancillary tests for enhancement of diagnostic accuracy include drug-challenge testing to assess dopaminergic responsiveness, neuroimaging to evaluate nigrostriatal pre-synaptic dopaminergic function or evidence for structural abnormalities, and genetic testing to identify common genetic subtypes of Parkinson’s disease. Therapeutic management of parkinsonism mainly depends on the underlying pathology. Levodopa is the single most effective way to treat the motor symptoms of Parkinson’s disease, but it may also be at least partially effective in other types of parkinsonism, so that a trial with levodopa will be part of the treatment approach in most patients presenting with parkinsonism.
Parkinson’s Disease: Advanced Disease, Motor Complications, and Management
Authors: Fox Susan H. , Shah Binit , Walsh Richard , Lang Anthony
Published: February 2014

Advanced Parkinson’s disease is characterized by progressive worsening of motor symptoms with bradykinesia, rigidity, tremor, and bulbar, gait, and balance problems. All these complications lead to increased functional disability and reduced quality of life. With ongoing disease, many of these symptoms become less responsive to medical therapy. In addition, patients develop a range of fluctuating symptoms in response to levodopa therapy that mar the quality of antiparkinsonian response. Management of these levodopa-responsive and non-levodopa-responsive symptoms requires a combination of pharmacological, surgical, and non-pharmacological approaches.
Progressive Supranuclear Palsy and Corticobasal Degeneration
Authors: Williams David R.
Published: February 2014

Progressive supranuclear palsy (PSP) is the second most common form of neurodegenerative parkinsonism after idiopathic Parkinson’s disease. Patients most often present with an insidious change in balance, personality, or cognitive function that characteristically leads to severe postural instability, vertical supranuclear gaze palsy, and death within seven or eight years; this classic clinical presentation is now know as Richardson syndrome (also Steele–Richardson–Olszewski syndrome). Less commonly, patients present with bradykinesia and rigidity (PSP–parkinsonism) which is only later followed by the emergence of falls, eye movement abnormalities, and cognitive impairment; others may present with pure akinesia and gait freezing (PSP–PAGF), corticobasal syndrome (PSP–CBS), or progressive non-fluent aphasia (PSP–PNFA). The characteristic neuropathological findings of abnormal accumulations of neurofibrillary tau protein in the subthalamic nucleus and other brainstem regions define the disease, and because of these findings PSP is included amongst the primary ‘tauopathies’.

Corticobasal degeneration (CBD) is another rarer tauopathy characterized by the accumulation of neurofibrillary and oligodendroglial tau in the cortex and basal ganglia. The classic ‘motor’ presentation of CBD is known as ‘corticobasal syndrome’: a combination of limb apraxia, cortical sensory loss, alien limb, focal myoclonus, and limb dystonia, as well as rigidity and bradykinesia that do not respond to dopaminergic medications. Corticobasal syndrome is not specific to CBD and is also known to occur in other diseases such as PSP, Alzheimer’s diseas,e and the frontotemporal dementias. The ‘cognitive’ presentation of CBD typically includes behavioural disturbance, including personality change and executive dysfunction, and progressive non-fluent aphasia.

There is some clinical and pathological overlap between these two conditions, and progressive decline over six to twelve years is usual in both. There are no disease-modifying therapies for PSP or CBD, and treatment is focused on optimizing independence, minimizing the complications of the advancing parkinsonism, and supporting care-givers.
Essential Tremor and Other Tremors
Authors: Paschen Steffen , Deuschl Günther
Published: February 2014

Tremor is one of the most frequent movement disorders, with the majority of subjects suffering from either essential tremor or enhanced physiological tremor. However, patients presenting to the movement disorder specialist mostly suffer from tremor of Parkinson’s disease or essential tremor and a large variety of relatively infrequent tremor syndromes such as dystonic tremor, task-specific tremor, cerebellar tremor, orthostatic tremor, tremor in peripheral neuropathies, Holmes tremor, palatal tremor, and psychogenic tremor. Correct diagnosis is critical for the selection of appropriate treatments. Medical therapy is available for most tremors. Deep brain stimulation is established as treatment for drug-resistant cases for most of these indications.
Primary Dystonia
Authors: Elia Antonio A. , Albanese Alberto
Published: February 2014

Dystonia syndromes are defined by the occurrence of sustained muscle contractions, which frequently cause twisting and repetitive movements or abnormal postures. Classification of dystonia syndromes is based on three axes describing, for each patient, age at disease onset (early vs adult), distribution of involved body sites (from focal to generalized), and aetiology (primary, heredodegenerative, or symptomatic forms). Primary dystonias are further subdivided into primary pure (with dystonia only), primary-plus (with other associated movement disorders) and primary paroxysmal (characterized by intermittent symptoms).

The phenomenology of dystonia encompasses a combination of movements and postures to generate sustained muscle contractions, repetitive twisting movements, and postural (torsion) abnormalities. Dystonic postures can precede the occurrence of movements, and in rare cases can persist without the appearance of movements (so-called fixed dystonia). In dystonic movements speed of contractions may be slow or rapid, but is commonly sustained at the peak, making movements acquire a consistent directional or posture-assuming character. Dystonia has some unique activation/deactivation features: geste antagoniste (or sensory tricks), mirroring, and overflow.

It has been shown that both genetic predisposition and environmental factors play a significant role in the aetiology of primary dystonia syndromes. Genetic defects are known for two primary pure dystonias (namely, DYT1 and DYT6) and for several primary-plus, paroxysmal, and heredodegenerative dystonia syndromes.

There is no aetiological or neuroprotective treatment for primary pure dystonias. Symptomatic treatments aim to relieve involuntary movements, correct abnormal postures, prevent contractures, reduce pain and embarrassment, and improve function. Botulinum toxin is the first choice treatment for most types of focal dystonia. Neurosurgical treatments have a growing role in the symptomatic management plan since long-term electrical stimulation of the globus pallidus internus has been established to be effective for primary generalized or segmental dystonias.
Huntington’s Disease Look-alikes
Authors: Wild Edward J. , Tabrizi Sarah J.
Published: February 2014

Around 1 per cent of patients in whom Huntington’s disease (HD) is suspected clinically lack the genetic mutation that causes HD. Such patients, referred to as having HD look-alike syndromes, HD phenocopies, or HD-like disorders, present a diagnostic challenge. This chapter offers a definition of HD look-alikes and reviews the causes and features of HD look-alike syndromes, including HD-like syndromes 1, 2 and 3, familial prion disease, , spinocerebellar ataxias 17, 1, 2 and 3, dentatorubro-pallidoluysian atrophy (DRPLA), brain iron accumulation disorders including pantothenate kinase associated neurodegeneration (PKAN) and neuroferritinopathy, choreoacanthocytosis, MacLeod syndrome, Wilson’s disease, Friedreich’s ataxia, mitochondrial disease, and benign hereditary chorea, and considers possible acquired causes. The evidence for the relative frequencies of each genetic cause is reviewed. The yield from exhaustive genetic investigation of such patients is only 2 per cent, which is important when it comes to genetic counselling. We propose a rational framework for the investigation of HD look-alike patients based on genetic frequencies and associated clinical features. The exclusion of treatable causes is a top priority. Expert genetic counselling and multidisciplinary care via a neurogenetics clinic remain the mainstay of care for such patients.
Myoclonus
Authors: Tijssen Marina A. J.
Published: February 2014

Myoclonus is characterized by quick involuntary jerks and is classified as one of the hyperkinetic movement disorders. Myoclonus can be caused by muscle contractions (positive myoclonus) or by interruptions of tonic muscle (negative myoclonus). The main classification of myoclonus is based on the anatomical origin of the myoclonic jerks: cortical, subcortical, spinal, and peripheral myoclonus, each with distinctive physiological mechanisms. Clinical characteristics, aetiology, and treatment options are related to the anatomical classification of myoclonus.

The epidemiology of myoclonus is poorly documented, as myoclonus has many different causes and a spectrum of clinical presentations. A single study showed a lifetime prevalence of 8.6 cases per 100 000. The aetiology of myoclonus is diverse and in 70 per cent of cases is symptomatic. Over the last 10 years new genes have been discovered for several myoclonic disorders. Recent pathophysiological studies illustrate an important role for the cerebellum in generating both cortical and subcortical myoclonus, but further studies addressing the precise mechanism of myoclonus are required. Therapy is usually symptomatic, as treatment of an underlying cause is often impossible or ineffective. Therapeutic options are mainly based on a low level of evidence as randomized controlled trials are not available.
Sleep-related Movement Disorders
Authors: Reading Paul J.
Published: February 2014

As in many areas of sleep medicine, it is often a challenge deciding whether or not movements during sleep reflect truly abnormal nocturnal phenomenona or are simply physiological variants. Indeed, when asleep, subconscious shifts of body position occurring every 15 minutes or so are considered entirely normal, as are minor jerks of the extremities and face, particularly during periods of rapid eye movement (REM) sleep. However, if nocturnal movements are observed to be excessive, violent, or arousing, either to the subject or bed partner, they will usually indicate a defined disorder, especially if the events are stereotypic through the night. Although the second edition of the International Classification of Sleep Disorders (ICSD) was revised in 2005 to include a new section dedicated to movement disorders occurring specifically during the state of sleep, diagnostic precision of such phenomena is often lacking and evidenced-based treatment protocols, when indicated, are poorly developed. Furthermore, if a sleep-related movement disorder is recognized, it can be very difficult to determine its true clinical significance for sleep quality and subsequent daytime wakefulness, especially in the elderly patient.

This chapter addresses those movement disorders that are intimately or exclusively related to the state of sleep or the sleep–wake transition. By convention, parasomnias causing abnormal arousals from deep non-REM sleep, such as sleepwalking or night terrors, will not be covered, although restless legs syndrome is discussed, partly because of its close association with periodic limb movements during sleep.
Psychogenic Movement Disorders
Authors: Pareés Isabel , Edwards Mark J.
Published: February 2014

Psychogenic movement disorders (PMD) are commonly encountered in movement disorder practice and are part of the wider spectrum of “functional” neurological disorders. These disorders raise complex questions regarding aetiology, with some regarding them as fabricated, part of a purely psychiatric disturbance, or misdiagnosed organic illness. Here we detail the positive clinical criteria that separate these disorders from typical organic movement disorders, and show how scientific evidence points to a neurobiological explanation for symptoms. We discuss treatment, demonstrating how recent studies suggest that recovery is possible in many patients.
Thinking about medicine
Authors: Longmore Murray , Wilkinson Ian B. , Baldwin Andrew , Wallin Elizabeth
Published: February 2014

The Hippocratic oath

Ideals

The bedside manner

Asking questions

Finding narrative answers

Death

Facing and managing death

Prescribing drugs

Surviving life on the wards

Resource allocation

Psychiatry on the wards

The elderly patient in hospital

The art of diagnosing

On being busy

Health and medical ethics...
History and examination
Authors: Longmore Murray , Wilkinson Ian B. , Baldwin Andrew , Wallin Elizabeth
Published: February 2014

Taking a history

Functional enquiry

Physical examination

Symptoms

Signs

Examination of the hands –

Cardiovascular system:

History

Examination –

The jvp

Pulses

The heart sounds

Cardiac murmurs

Peripheral vascular examination

Arterial and venous

Respiratory system:

History

Examination –

Important presentations

Gastrointestinal system:

History

Gastrointestinal symptoms

Examination of the abdomen...
Cardiovascular medicine
Authors: Longmore Murray , Wilkinson Ian B. , Baldwin Andrew , Wallin Elizabeth
Published: February 2014

Cardiovascular health

At the bedside (see 34):

Cardiovascular symptoms

Investigations:

ecg—a methodical approach

ecg—abnormalities

ecg—additional points

Exercise ecg testing

Ambulatory ecg monitoring

Cardiac catheterization

Echocardiography

Drugs and the heart:

Cardiovascular drugs

Statins

How to start ace-inhibitors

Diseases and conditions:

Angina pectoris...
Gastroenterology
Authors: Longmore Murray , Wilkinson Ian B. , Baldwin Andrew , Wallin Elizabeth
Published: February 2014

Healthy, enjoyable eating

The mouth

Some presenting symptoms:

Dysphagia

Nausea and vomiting

Dyspepsia/peptic ulcer

Gastro-oesophageal reflux

Hiatus hernia

Diarrhoea

Constipation

Jaundice

Upper gi bleeding

Bleeding varices

Procedures:

Endoscopy and biopsy

Diseases and conditions:

Liver failure

Cirrhosis

Haemochromatosis

α‎1-antitrypsin deficiency

Primary biliary cirrhosis...
Renal medicine
Authors: Longmore Murray , Wilkinson Ian B. , Baldwin Andrew , Wallin Elizabeth
Published: February 2014

Introduction to nephrology

Urine

Urinary tract infection (uti)

Acute kidney injury (aki):

Diagnosis

Management

Chronic kidney disease (ckd)

Management

Renal replacement therapy (rrt)

Glomerulonephritis (gn)

Nephrotic syndrome

Diuretics and their mechanism of action

Interstitial nephritides and nephrotoxins...
Neurology
Authors: Longmore Murray , Wilkinson Ian B. , Baldwin Andrew , Wallin Elizabeth
Published: February 2014

Neurology at the bedside:

The chief questions

Cerebral artery territories

Drugs and the cns

Testing peripheral nerves

Dermatomes

Some common presentations:

Headache (includes trigeminal neuralgia & migraine)

Blackouts

Vertigo & dizziness

Hearing loss & tinnitus

Weak legs & cord compression

Abnormal movements

Diseases and conditions:...
Surgery
Authors: Longmore Murray , Wilkinson Ian B. , Baldwin Andrew , Wallin Elizabeth
Published: February 2014

Language of surgery

Perioperative care:

Pre-operative care

Consent

Prophylactic antibiotics

Bowel preparation

Sutures

Surgical drains

Anaesthesia

Local anaesthetics –575

Control of pain

General post-op complications

dvts

Swollen legs

Specific post-op complications

Stoma care

Nutritional support –588

Diabetic patients

Jaundiced patients

Patients on steroids

Patients on anticoagulants...
Epidemiology
Authors: Longmore Murray , Wilkinson Ian B. , Baldwin Andrew , Wallin Elizabeth
Published: February 2014

The essence of epidemiology

Prevention

Screening

Evidence-based medicine (ebm)

Is this new drug any good? Trials and meta-analysis

Six to five against (odds ratios)

Investigations change the odds

An example of epidemiology at work: risk factor analysis

We thank Dr Laurie Tomlinson, our Specialist Reader, and Kit Robinson, our Junior Reader, for their contribution to this chapter....
Clinical chemistry
Authors: Longmore Murray , Wilkinson Ian B. , Baldwin Andrew , Wallin Elizabeth
Published: February 2014

On being normal in the society of numbers

The essence of laboratory medicine

Biochemistry: disease patterns

Lab results: act now

Fluid balance and iv fluid therapy

Electrolyte physiology and the kidney

Acid–base balance

Hyper- and hyponatraemia

Syndrome of inappropriate adh secretion

Hyper- and hypokalaemia

Calcium and phosphate physiology...
Radiology
Authors: Longmore Murray , Wilkinson Ian B. , Baldwin Andrew , Wallin Elizabeth
Published: February 2014

Principles in radiology:

Typical effective doses

Justifying exposure to ionizing radiation

The art of the request

Interpreting an image

Presenting an image

Modalities:

Chest x-ray (cxr) –740

Plain abdominal x-ray

Computed tomography (ct) –746

Magnetic resonance imaging (mri...
Emergencies1
Authors: Longmore Murray , Wilkinson Ian B. , Baldwin Andrew , Wallin Elizabeth
Published: February 2014

Many diseases can present as emergencies, but if you know about the following, you will be very unlucky to lose a patient from a disease not listed here, on a general medical take, provided you remember to ask for help.

Headache

Breathlessness

Chest pain

Coma...
The adult patient
Authors: Thompson Paul
Published: February 2014

The adult patient gives the trainee rheumatologist insight into the wide range of musculoskeletal problems faced by our patients, the many different clinical pictures they present, and how their disorders evolve over time. Using clinical vignettes to stimulate thought and evidence-based articles and reviews to underpin the text the chapter covers patients with mono-, oligo-, and polyarthritis, regional soft tissue and myofascial pain, polymyalgia, and systemic autoimmune rheumatological conditions. The importance of disease classification for helping prognosis and treatment strategies is contrasted with the difficulty of fitting many of our patients into a diagnostic pigeon hole. Particular emphasis is placed on the need for the rheumatologist to take a holistic approach to the subject and to remember that outcome depends not only on the disease but also the person affected.
The systemically ill patient
Authors: Robson Joanna , Mistry Anna , Bhamra Kuljeet , Kluzek Stefan , Luqmani Raashid
Published: February 2014

The rheumatologist is commonly tasked with the difficult problem of making a diagnosis of a patient who appears to have a multisystem condition. The problem can be compounded by the use of partial treatment, especially the use of high doses of glucocorticoids, which can mask important clues to the diagnosis, and may even prevent the possibility of confirming a diagnosis; worst of all, they may exacerbate any underlying infection that may be the true cause of the problem. The rheumatologist should not discount the value of repeating initial investigations, if the condition changes, and of reviewing the diagnosis accordingly. Wherever possible, evidence should be used for management decisions, but there is still a degree of art, fashioned from experience, that needs to be practised in managing these cases effectively.
Epidemiology and the rheumatic diseases
Authors: Symmons Deborah P. M.
Published: February 2014

Epidemiology is the study of the distribution and determinants of disease in populations. Clinical epidemiology is the study of the distribution and determinants of outcomes in populations with a specific disease. The occurrence of disease may be described in terms of incidence (the number of new cases per 100 000 population per year), prevalence (the proportion of the population affected), and mortality. The distribution of disease may be influenced by person, place, and time. Risk factors for disease and disease outcome are generally divided into genetic and non-genetic factors. In order to determine whether a particular factor influences disease onset or outcome it is important to have an appropriate non-disease group as a comparison. This chapter describes the types of study design which are suitable for evaluating disease occurrence (cross-sectional and longitudinal studies) and risk markers for disease and disease outcome (case-control and cohort studies). The chapter presents a template which includes the incidence and prevalence of the most common musculoskeletal conditions by age and gender with a common perspective (presentation to primary care in the United Kingdom). It also includes a summary of the best recognized risk factors for disease onset and outcome. Finally there is reference to common pitfalls in interpreting statistics on risk.
Assessment of rheumatic disease
Authors: van Riel Piet
Published: February 2014

The clinical examination of the musculoskeletal system is the cornerstone in the diagnostic process of rheumatic diseases. Next to this the clinical examination is important in evaluating the course of the different rheumatic diseases and the response to interventions. For instance in rheumatoid arthritis the joint scores—number of painful and swollen joints—are important in the evaluation of the disease activity of the patient. In systemic sclerosis the severity of skin involvement is measured with a skin score such as the modified Rodnan skin score, and in ankylosing spondylitis the spinal mobility is measured using different clinical scores.
In general all these examinations should be carried out as far as possible in a standardized, systematic way.
Basics of genetics
Authors: Barton Anne
Published: February 2014

Genetic factors are important in predisposing to nearly all of the conditions managed by rheumatologists; indeed, musculoskeletal diseases, like other complex diseases, are thought to be caused by environmental triggers in genetically susceptible individuals. Studying genetic susceptibility factors is more straightforward than environmental factors because, first, genetic changes are stable and do not vary throughout life; second, genetic changes exist before disease onset and so could be causative rather than occurring as a result of disease; and, third, genetic variation is easy to measure reliably using modern technologies. By comparison, environmental exposures can occur many years before disease onset, may vary during life, and are hard to accurately capture and measure. Enormous progress has been made in recent years in identifying susceptibility genes. This knowledge may allow better targeting of available therapies, the development of novel therapies, and an improved understanding of what determines disease severity in individual patients. In this chapter, the basic concepts in genetics are explained.
Normal functional anatomy of joints
Authors: Benjamin Mike , McGonagle Dennis
Published: February 2014

The current chapter has a functional anatomical focus on factors directly relevant to the inflammatory and degenerative rheumatic diseases. Given the immense importance of synovial inflammation in the rheumatic disorders we pay particular attention to synovial (diarthrodial) joints. Many subtypes are defined, according to the shape of the articulating bones and/or the type of movement permitted. The most defining characteristic of any synovial joint is the presence of a joint cavity containing fluid secreted by a synovial membrane. This fluid nourishes the articular cartilage. Some synovial joints contain fibrocartilaginous menisci and/or fat pads and others have cartilages lining the surfaces of ligaments or tendons that replace or reinforce the joint capsule. These cartilages form part of ’enthesis organs’ and contribute to the formation of ’synovio-entheseal complexes’. Such synovial membrane-synovial fluid-cartilage functional units are widespread and appear to be of key importance in the pathogenesis of erosion formation in inflammatory arthritis. Typically, they occur at diverse sites including fibrocartilaginous regions of extensor tendons at the interphalangeal joints and where tendons change directions on bony surfaces in the ankle joint. They are collectively termed functional entheses and contribute to a number of pathological processes including tendonitis, periostitis and osteitis.
Fibroblasts and mesenchymal cells
Authors: Filer Andrew , Juarez Maria , Buckley Christopher
Published: February 2014

In order to understand and explore the function and roles of fibroblasts, it is necessary to understand their lineage relationships to other mesenchymal cells. Fibroblasts are ubiquitous non-epithelial, non-endothelial, and non-haematopoietic adherent cells that have the capacity to produce and remodel extracellular matrix. In addition to their well-known ’landscaping’ function which determines the unique structure and function of different organs, they play an important role in wound healing, immune tolerance, and disease. In cancer, epithelial-stromal interactions have been implicated in disease initiation and progression. In rheumatoid arthritis, synovial fibroblasts at diseased sites become persistently activated and behave abnormally, orchestrating joint inflammation and contributing to joint destruction. Recent evidence suggests that the activated phenotype of fibroblasts in pathology may result from epigenetic programming, which is becoming a major focus for development of new therapeutics.
Acute-phase responses and adipocytokines
Authors: Neumann Elena , Frommer Klaus , Müller-Ladner Ulf
Published: February 2014

Adipokines, also called adipocytokines, are highly bioactive substances mainly expressed by adipose tissue. In addition to adipocytes, different cell types resident in various tissues produce adipokines under pathophysiological conditions. Adipokines include a growing number of pluripotent molecules such as adiponectin, resistin, leptin, and visfatin. Since distinct effects of adipokines on inflammation have been described, their influence on the (innate) immune system has been investigated in rheumatology, gastroenterology, and endocrinology. This review gives an overview on the current knowledge about the influence which adipokines have on the immune system and chronic inflammation in rheumatic diseases.
Electrophysiology
Authors: Blake Julian
Published: February 2014

Clinical neurophysiology is a diagnostic discipline used in the assessment of peripheral and central neurological disease. Sensory action potential and compound muscle action potential measurement in peripheral neurological disorders is outlined in this chapter. Amplitude of action potentials gives information about axon integrity, whereas conduction velocity is related to the state of myelin. These parameters are used to identify and localize entrapment neuropathies and provide useful management and prognostic information. They are essential in the diagnosis of axonal and demyelinating peripheral neuropathies. Needle electromyography is used to characterize the cause of weakness, distinguishing denervation from myopathies. Simple neurophysiological methods are also applicable to the diagnosis of neuromuscular junction disorders.
Patient education
Authors: Walker David , Thompson Ben
Published: February 2014

Patient education is an essential component of the management of musculoskeletal disorders. However, despite clear guidance that health professionals should be providing education for patients, uncertainty remains about the optimum strategies which should be adopted—exactly what, when and how education should be offered to patients—as well the effect education has on patients. Like any intervention, evidence is needed to show that education is effective, and to justify the resources required for its production and delivery. Yet education is a complex intervention, and studying its effect is challenging. This chapter focuses on these debates, reviewing current evidence regarding methods of delivering education, the timing and content of education, and how education is evaluated. Finally, it makes practical suggestions about improving the quality of patient education in the future.
Tissue engineering
Authors: McCaskie Andrew , Genever Paul , De Bari Cosimo
Published: February 2014

The field of tissue engineering has developed rapidly over the last few decades and is of great relevance to musculoskeletal therapy and intervention. Tissue engineering strategies are often considered in a simplified form in terms of cells, scaffolds, and additional factors, although it should be noted that successful translation of such a strategy is more complex. There are many variations of usage and combination and it is not necessary for all three to be provided by the proposed treatment. However, the regenerative approach must produce both the quantity and quality of target tissue at the level of the cell, matrix, and environment. Moreover, the regenerated tissue must interact with the host tissue with a seamless biological and functional interface. Tissue engineering, regenerative medicine, and cell therapies have developed significantly over the last few decades and are applicable to a wide range of musculoskeletal applications. Many strategies have been identified that would potentially benefit patients but the future will require successful translation from the laboratory into clinical practice. It is important to identify clinical targets where there is both clinical need and an informed view that the approach is likely to be successful.
Diet and obesity
Authors: Pattison Dorothy
Published: February 2014

The idea that diet might be able to ameliorate the symptoms of arthritis, particularly rheumatoid arthritis (RA), has intrigued patients and researchers for many years. However, ’diets for arthritis’ remain elusive. The costs incurred by the health services and patients in the management of ’arthritis’, particularly osteoarthritis and RA, are high due to surgical interventions, new biological therapies, and hours of work lost due to disability. Other therapies that could prevent or delay such costs, for example diet therapy, should be examined. With the increasing prevalence of obesity in the general population, weight loss is integral in the management of many musculoskeletal conditions; in addition, the increasing understanding and awareness of the presence of systemic disease in such conditions has resulted in a need for dietary advice to address comorbidities such as obesity, insulin resistance, and hypercholesterolaemia.
There is a paucity of robust studies to support the use of dietary supplements such as vitamin supplements, alternative remedies, or food exclusions. However, regardless of the number of well-conducted clinical trials of fish oils rich in n-3 polyunsaturated fatty acids (PUFA) showing pain relief, reduction in use of non-steroidal anti-inflammatory drugs (NSAIDs) and other symptomatic benefits in patients with RA, there is no agreed guideline on the possible use of fish oil supplements in clinical practice.
The rheumatology team typically includes a nurse, physiotherapist, occupational therapist, and podiatrist alongside the rheumatologist. Given the number of situations where dietary advice is appropriate for rheumatology patients, there should at least be access to dietetic services. There is limited evidence to support dietary intervention in musculoskeletal conditions. Therefore, the opportunity to include dietetics in future clinical research should be seriously considered.
Principles of upper limb surgery
Authors: McNab Ian , Little Chris
Published: February 2014

Reconstructive surgery should be undertaken before the patient becomes severely incapacitated. The patient should be as fit as possible, with synovitis under good control with no evidence of sepsis. Active disease or glucocorticoid therapy are not contraindications to surgery.
Shoulder surgery: Pain from synovitis of the acromioclavicular localizes to the joint and responds to intra-articular steroid or arthroscopic excision of the lateral clavicle. Pain from glenohumeral disease that does not improve with articular injections is helped by humeral head replacement, but glenoid bone loss generally makes glenoid resurfacing inadvisable. Rotator cuff impingement and tears that do not respond to injections and capsular control exercises are best treated by arthroscopic subacromial decompression and debridement.
Elbow surgery: Arthroplasty will usually remove pain and improve function, particularly in the flail elbow, but carries increased surgical risks and a higher likelihood of loosening than other large-joint replacements; lifting should be restricted in the long term. Nerve compression around the elbow is common, but often relatively asymptomatic. Olecranon bursal excision surgery is usually avoided because of the low but significant risks of problems with wound healing.
Hand and wrist surgery: if hand function and pain continue to deteriorate despite maximal medical therapy, surgical intervention is indicated.
Principles of lower limb surgery
Authors: Wall Peter , Wyse Matthew , Griffin Damian
Published: February 2014

Lower limb surgery can be broadly grouped into five categories: injections, joint-preserving procedures, soft tissue procedures, arthrodesis, and arthroplasty. Lower limb surgery should be expedited at a time that will offer the optimal outcome and minimal risk. Decisions on diagnosis, surgical timing, and fitness for surgery should be made by a multidisciplinary team which may include both rheumatologists and anaesthetists. A thorough preoperative assessment and adequate preoperative imaging will allow surgery to proceed safely and without undue delay. Measures to reduce the main risks of surgery including infection and venous thromboembolism should be undertaken. The effects on both patients and healthcare resources of surgical site infection are immense. Surgery should take place in modern ultraclean theatres where possible. Controlling and managing surgical blood loss will allow patients to rehabilitate more rapidly; this can be achieved with careful monitoring of blood losses, antifibrinolytics and blood transfusions where necessary.
Diagnostic injections should be used to help determine the likely success of surgery in patients with complex symptoms. Therapeutic arthroscopy now offers a real alternative to open surgery for many conditions, and joint-preserving surgery represents a key area where more research is needed in order to help manage rheumatological disease in the future. Ankle arthroplasty continues to improve but early failure is still a concern. Total hip and knee arthroplasty are both highly effective operations in the treatment of arthritis and should not be delayed in patients in whom medical management is failing.
Opportunistic infection
Authors: Murthy Saraswathi , Hopkins Susan
Published: February 2014

Approximately 400 000 adults (>600 per 100 000) living in the United Kingdom are affected by rheumatological diseases and infection is a common cause of morbidity and mortality in these individuals. This chapter provides an overview of the factors that potentiate infection risk within rheumatological diseases related to the diseases themselves and the treatment of the diseases. It reviews the common infections encountered and their aetiologies and management. Importantly it also focuses on preventable measures that should be undertaken, such as care of vascular access devices, vaccinations, immunizations, and prophylactic antimicrobials.
Systemic lupus erythematosus—clinical features and aetiopathogenesis
Authors: Gordon Caroline
Published: February 2014

Systemic lupus erythematosus (SLE or lupus) is a multisystem, autoimmune disease associated with the formation of autoantibodies that form pathological immune complexes and activate a number of inflammatory pathways. The disease is characterized by remissions and relapses (flares) that can present with a variety of clinical manifestations. The symptoms and signs may range from mild features that can be treated easily to organ and even life threatening manifestations requiring potent immunosuppression. This chapter will review the epidemiology and pathology of lupus, then the clinical features including differential diagnosis and investigation of adult patients with SLE. Finally the classification, diagnosis, monitoring and outcome of lupus patients will be discussed.
Paediatric scleroderma and related disorders
Authors: Zulian Francesco
Published: February 2014

Juvenile scleroderma syndromes, including the systemic and the localized varieties, represent the third most frequent chronic rheumatic conditions in paediatric rheumatology after juvenile idiopathic arthritis and systemic lupus erythematosus.
Juvenile systemic sclerosis (JSSc) has a variety of clinical manifestations, sometimes different from the adult form. Children show a significantly less frequent involvement of all organs, except for arthritis and myositis which are slightly more common than in adults. Indeed, the overall clinical outcome is better. In most JSSc cases with fatal course, the disease progression is rapid due to the early involvement of internal organs. The recently proposed classification for JSSc enables earlier and more definite diagnoses and provides clear criteria to standardize the conduct of clinical trials.
Juvenile localized scleroderma (JLS), also known as morphoea, is much more frequent than JSSc. It comprises a group of distinct conditions which involve the skin and subcutaneous tissues. They range from very small plaques of fibrosis involving only the skin, to diseases which may cause significant functional and cosmetic deformity, with a variety of extracutaneous features.
Monitoring of JLS includes semiquantitative clinical scoring methods, a computerized skin score, infrared thermography, and high-frequency ultrasound. Treatment varies from topical glucocorticoids, calcipotriene, or phototherapy, as in circumscribed morphoea, to systemic drugs when there is a significant risk for disability, as in linear scleroderma and generalized or pansclerotic morphoea. A recent randomized controlled trial has confirmed the efficacy of methotrexate in these conditions or mycophenolate mofetil in refractory cases.
Non-inflammatory myopathies
Authors: Roberts Mark
Published: February 2014

Non-inflammatory myopathies (NIM) are a diverse group of genetic disorders, characterized by neuromuscular weakness, fatigue, muscle wasting, and pain, due to inherited defects in proteins critical in the structural integrity and function of muscle fibre or in enzymes involved in energy production in this most metabolic tissue. The shared clinical and laboratory features (including elevated muscle enzyme levels, myopathic change on electromyography, and even inflammatory changes on muscle biopsy) of myositis and NIM frequently cause diagnostic confusion. Failure to distinguish these disorders will result in unnecessary immunosuppression, lack of screening for cardiorespiratory and other associations of NIM, and a missed opportunity for genetic counselling and potential future treatments. A strong index of suspicion is required in all patients presenting with neuromuscular syndromes if a long diagnostic odyssey is to be avoided. A clinically focused multidisciplinary approach, with a working knowledge of subtypes of NIM, is outlined in this chapter.