bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular Biology and Pathology of Paediatric Cancer
Authors: Cullinane Catherine J , Burchill Susan A , Squire Jeremy A , O’leary John J , Lewis Ian J 
Published: November 2023

Abstract
There has been an explosion of knowledge and enormous progress in the fundamental understanding of the biology of cancer in recent years. This has included the realisation that cancer occurs when normal cellular functions are disturbed leading to a malignant phenotype. Much research has focussed on understanding the types of disturbances that can occur, the contribution that these abnormalities can make to the development and behaviour of particular cancers and more recently, the recognition that these cellular and genetic abnormalities can provide rational targets for new therapeutic approaches. Information about the biology of cancers that occur in children has increased in parallel with these more general advances and this book is intended to provide a focus for readers who wish to have an understanding of our current state of knowledge. A international group of editors and contributors provide guidelines on the molecular biology and pathology of paediatric oncology, aimed at clinicians and scientists working in the specialty who wish to understand current developments in molecular pathology as applied to their field. The book is a broad ranging review focusing on the impact of molecular and cytogenetic techniques on our understanding of the aetiology, clinical behaviour, diagnosis and management of paediatric cancer. The first section outlines the laboratory handling of tissue samples, theory and methodology of cytogenetic and molecular techniques and discusses predisposition syndromes. The second section highlights the application of cytogenetic and molecular methods in diagnosis and treatment of the major paediatric cancers.
Cells, tissues, and the diagnostic laboratory
Authors: Cullinane Catherine J , Burchill Susan A , O’Leary John J 
Published: November 2023

Abstract
Advances in the histogenesis and molecular cell biology of paediatric cancer have refined and improved the diagnostic process. Good communication with clinical colleagues, knowledge of the types of tumours encountered at particular sites in different age groups, and recognition of the characteristic light microscopic appearances of these neoplasms is essential for correct diagnosis and management. Childhood malignancies however, may appear similar by routine light microscopy often as a non-descript population of small round cells known as round cell tumours (RCT) of childhood (Table 1.1). The application of ancillary investigations such as immunohistochemistry (IHC), electron micro scopy (EM), and molecular techniques is used not only to improve the accuracy of diagnosis but also to predict prognosis; this multidiscipline approach increases the amount of material required at diagnosis (1-3).
Methods of genetic analysis applied to pediatric cancer
Authors: Zielenska Jane Bayani Maria , Squire Jeremy A 
Published: November 2023

Abstract
Genetic technologies have made major advances in recent years, and both the power and sensitivity of methods in molecular biology have been greatly aided by the increasing number of genes discovered as part of the Human Genome Project (1, 2). The fields of genetics and pediatric cancer overlap in many areas, and much of the success in our understanding of genetic defects in childhood tumors has depended on the application of molecular genetic and advanced cytogenetic methodologies. Some of the newest genomics methods used to identify and investigate genes associated with pediatric cancer are presented below. The reader is directed to more comprehensive texts for a full explanation of the methodologies and experimental details (3-6).
The Rett syndrome: a proposed mechanism of genetic origin and inheritance
Authors: Hulten M A 
Published: November 2023

Abstract
There can be no doubt that the Rett syndrome (RTT, McKusick Catalogue No. 312750) affects females primarily, occurring with an incidence of around 1 per 10 to 15 000 new-born girls (Akesson et al. 1996). In the British Survey, conducted by Kerr, of 640 recorded Rett cases, 531 (83 ) were classic and 109 (17 ) atypical (in 1999) (see Chapter 1). In congruence with observations elsewhere, the majority of these RTT cases are sporadic, and there are only a few families having more than one affected RTT child. Nevertheless, not only RTT concordance between identical twin sisters and the occurrence of RTT in sisters, half sisters and cousins, but in particular the report of a mother and daughter, both having Rett syndrome (Witt Engerström and Forslund 1992), points to this severe neurological disorder being a single gene condition, which is either X-linked or sex limited in its expression— although more complex models have also been postulated (Johnson 1980; Buhler et al. 1990).
Musical responsiveness in the Rett disorder
Authors: Merker Bjorn , Wallin Nils L 
Published: November 2023

Abstract
Despite numerous informal indications that music plays a significant role in the lives of Rett patients (Chapter 1), there are few reports of research on music in relation to Rett syndrome (Wesecky 1986; Kerr 1987; Hadsell and Coleman 1988; Wigram, 1991; Cass et al. 1993; Wigram and Cass 1995; Wylie 1996; Sigafoos et al. 1996; Burford and Trevarthen 1997; Wigram 1997; Takehisa and Takehisa Silvestri, n.d.).
The developmental perspective in the Rett disorder: where next?
Authors: Kerr Alison M , Engerström lngegerd Witt 
Published: November 2023

Abstract
Discovery of the gene and growing insight into the pathophysiology of the Rett disorder has answered many important questions. It is now beyond doubt that we are dealing with a prenatal disturbance of growth which profoundly affects cognitive, motor and autonomic functions of the brain and to a lesser extent of the rest of the body, leading to the sequence of events and signs we recognize in the ‘Rett syndrome’. Here we consider some implications of these discoveries, what remains to be done, how the new objectives might be achieved and how the knowledge acquired may be directed to produce more effective intervention for people with the disorder and their families.
Locomotion analysis
Authors: Brand Richard 
Published: November 2023

Abstract
Doctors have used observation of human movement to interpret disease states for at least as long as recorded history. The skilled clinician often finds qualitative observational analysis critical to establish the presence of disorders, to distinguish between certain classes of conditions, or to ascertain the severity of disease. The notion of using technology to measure quantitatively and record critical clinical information arose in the nineteenth century. However, despite thousands of studies over more than 100 years and despite many technical advances, recorded locomotion analysis beyond the observational has never gained widespread clinical use.
Classification of Soft Tissue Disorders
Authors: Speed Cathy 
Published: November 2023

Abstract
Controversy relating to the relevance of taxonomy has complimented literature for centuries and there is clearly varied opinion on the subject in general. Nevertheless, nomenclature in medicine is of paramount importance, as it is by words that we convey our meaning to others, and they to us. Nomenclature is also important in the development of clear case definitions to permit interventional and epidemiological studies of specific complaints.
The Epidemiology of Soft Tissue Rheumatic Disorders
Authors: Walker-Bone Karen , Cooper Cyrus 
Published: November 2023

Abstract
Soft tissue rheumatic disorders are common—the lifetime prevalence of neck and back pain approach 70 and 80 per cent, respectively. However, the model of traditional rheumatological practice is associated with the management of articular, principally inflammatory, diseases. It is unsurprising, therefore, that a popular misconception has arisen—that the majority of disability from musculoskeletal disorders is caused by inflammatory disease. This chapter will challenge this misconception, describing our current knowledge of the burden of pain and disability in the population arising from soft tissue rheumatic complaints. However, the epidemiology of soft tissue rheumatic disorders is currently poorly characterized for several reasons. Therefore, this review will scrutinize the available epidemiological research, highlight its strengths and weaknesses, and identify those areas in which further research is urgently required.
The Diagnosis of Soft Tissue Disorders: Radiology
Authors: Bearcroft Philip 
Published: November 2023

Abstract
A variety of radiological techniques is available for the assessment of soft tissue pathology. Each has certain strengths and advantages that must be seen in the context of the corresponding weaknesses and disadvantages. In the current chapter, each radiological technique will be considered in turn. The technical aspects will be outlined, together with the associated strengths and weaknesses and the specific clinical uses for which the technique is best suited. In the final section, two fundamental principles of imaging will be described. The first is an understanding of the potential harm that a patient might suffer when undergoing a radiological examination and the sources of that harm. The second is an understanding that the result of a radiological test once obtained must be put into a wider context, and a mathematical model will be described to help with this analysis.
The Investigation Of Soft Tissue Disorders: Nuclear Medicine
Authors: Dutton Jane , Fogelman Ignac 
Published: November 2023

Abstract
The use of nuclear medicine in the investigation of soft tissue rheumatological disorders embraces a wide variety of nuclear medicine methods including specialized techniques such as labelling white cells for imaging, single photon emission computerized tomography (SPECT), and, most recently, positron emission tomography (PET) with 18F-fluorodeoxyglucose. By far the most common scan, however, is the standard planar bone scan with 99mTc-methylene diphosphonate. This chapter attempts to give an overview of the principles of the methods employed, their indications, and examples of the abnormalities demonstrated or diagnosed by these techniques.
Soft Tissue Disorders in Chronic Disability
Authors: Kirker Stephen 
Published: November 2023

Abstract
Following the success of disease-modifying drugs and joint replacement surgery for rheumatic diseases, most severe chronic disability is now due to neurological disorders, in particular, stroke and multiple sclerosis. Spinal cord and traumatic brain injuries, cerebral palsy, muscular dystrophies, motor neuron disease, poliomyelitis, and chronic peripheral neuropathies are less common causes. Soft tissue pain in these conditions is associated with muscle weakness, poor support of joints, altered muscle tone, and abnormal posture.
The Management Of Pain in Soft Tissue Disorders: Pharmacological Agents
Authors: Abrahams Mark , Munglani Rajesh 
Published: November 2023

Abstract
The perception of pain is a physiological protective mechanism designed to act as a warning that tissue damage, has occurred, to encourage prevention of further damage and to allow the healing process to be completed. The persistent pain associated with soft tissue disorders, however, may serve no useful biological purpose. Frequently, the patient will experience pain when there is no evidence of injured tissue. Alternatively, significant irreversible tissue damage may be present but unresponsive to normal tissue healing processes. Pain sensation in these situations is, therefore, redundant. Unlike acute pain, which can serve as an indicator of disease severity or progression, the intensity of persistent pain often bears no relationship to the underlying disease process.
Acupuncture and Trigger Point Needling
Authors: Cummings Mike 
Published: November 2023

Abstract
Fossil evidence of trepanning indicates that man has used physical therapies in the treatment of disease since Neolithic times (circa 10,000 to 3500 BC). Whilst the Chinese are reputed to have evidence of the use of acupuncture from bone etchings dating back to 1600 BC, the recent discovery of Ötzi, the Tyrolean iceman, dates the use of a therapeutic needling technique in Europe to 3200 BC.(1) It is clear that acupuncturelike therapies have developed independently in different civilizations around the world, and this is probably due to late evolutionary features in the mammalian nervous system, combined with intelligence, and the consequent use of tools, in humans.
The Role of The Occupational Therapist And Ergonomy
Authors: Hammond Alison , Batteson Rachel 
Published: November 2023

Abstract
Of all soft tissue complaints, occupational therapists treat soft tissue disorders of the upper limb most frequently, and in particular those considered to be work-related upper limb disorders (WRULDS). This is therefore the main focus of this chapter. There is considerable debate about the aetiology of upper limb pain and whether this is related to frequent repetitive movements of the upper limb (which can occur occupationally as well as in other daily activities) or, at the other extreme, is a localized form of a fibromyalgia-type syndrome of multiple aetiology. A recent population-based study of working individuals with forearm pain identified a multifactorial aetiology for forearm pain (Table 1).(1)
The Management of Soft Tissue Disorders: The Role Of The Podiatrist
Authors: Prior Trevor 
Published: November 2023

Abstract
Whilst the role of the podiatrist in the management of skin lesions has been established for many years, this role in the management of soft tissue and skeletal abnormalities has only recently been appreciated. This chapter attempts to outline the role of the podiatrist and the treatment methods/modalities available. It is not intended to describe the conditions that are covered elsewhere in this book but the management of these conditions will be outlined.
The Lower Leg
Authors: Speed Cathy , Holloway Graham 
Published: November 2023

Abstract
The bones of the leg, the tibia and fibula, articulate proximally at the proximal tibiofibular joint, which communicates with the knee joint. The joint is stabilized by surrounding ligaments, capsule, and the popliteal tendon and glides when the ankle comes into dorsiflexion. It dissipates tibial bending moments and torsional loads applied to the ankle and allows distal motion of the fibula with weight-bearing. The tibia and fibula are united in the midleg by the interosseous membrane and distally by the tibiofibular syndesmosis, a continuation of the interosseous membrane in combination with four ligaments at the distal aspect of the leg. The tibial tuberosity receives the patellar tendon.
Personality and cognitive abilities
Authors: Plomin Robert , Happé Francesca , Caspi Avshalom 
Published: November 2023

Abstract
This chapter reviews genetic research on personality and cognitive abilities, the two major domains of behavioural genetic research on normal variation in human behaviour. Rather than considering the two domains separately, they are reviewed together because the contrasts between them are interesting in relation to quantitative and molecular genetic research. Why include a chapter on normal personality and cognitive abilities in a book on psychiatric genetics? One reason is that it seems likely that some psychopathology such as personality disorders or depression might represent the quantitative extreme of the normal range of genetic and environmental variation in personality (Cloninger 2002; Nigg and Goldsmith 1998).
Reading and language disorders
Authors: Williams Julie 
Published: November 2023

Abstract
A variety of disorders reflect abnormalities in the processing of language. Genetic research has concentrated predominantly on specific language impairment (SLI) and specific reading disability (SRD). Current quantitative and molecular research in these areas is producing many interesting findings that show strong evidence for the presence of a number of genes contributing to these disorders. Identifying genes will help us understand how the disorders develop and may also provide a novel insight into the biology of language processing, a crucial component of human cognition.
Molecular mechanisms of subcortical versus cortical infarction
Authors: Waxman S G 
Published: November 2023

Abstract
Based on differences in their cellular organization, it might be expected that different molecular mechanisms would trigger secondary cell death in white matter of the central nervous system (CNS) as opposed to grey matter. Axons and associated myelin sheaths, oligodendrocytes, and astrocytes constitute the major cellular constituents of white matter tracts. Synaptic transmission does not occur in white matter, and pre- and postsynaptic specializations are not present. Grey matter, on the other hand, is where synaptic transmission occurs; neuronal cell bodies and dendrites are present in the grey matter, and are impinged upon by synaptic terminals so that there is a high density of pre- and postsynaptic specializations. These synaptic specializations provide a substrate for excitotoxic cell injury within grey matter.
Hyperacute diagnosis of subcortical infarction
Authors: Toni D 
Published: November 2023

Abstract
The differential diagnosis between stroke subtypes has many implications in terms of prognostic estimates, therapeutic approaches aimed at preventing stroke recurrence (Toni and Falcou 1999), and emergent treatment aimed at saving brain tissue. This last point, in particular, becomes of utmost importance following the demonstration of the efficacy of thrombolytic revascularization (Hacke et al.1995, 1998, NlNDS 1995) and its introduction into clinical practice (Grond et al.1998, Trouillas et al.1998, Hamilton et al.1999).
Internal watershed infarction
Authors: Chambers B R , Bladin C F 
Published: November 2023

Abstract
Watershed infarction occurs in the borderzone between adjacent arterial perfusion beds and generally results from a critical reduction in perfusion pressure (Zuülch 1961a, Romanul and Abramowicz 1964, Adams et al. 1966, Torvik and Jørgensen 1966, Torvik 1984). Other terms include ‘borderzone’, ‘borderline’, ‘subcortical junctional’, ‘extraterritorial’, ‘distal field’, ‘terminal zone’, and ‘low-flow’ infarction. Bilateral watershed infarction may occur following prolonged severe hypotension after cardiac arrest, but more commonly one sees unilateral infarction in association with carotid occlusive disease. In such patients, regional perfusion failure may result from myocardial infarction, cardiac arrhythmia, cardiac failure, orthostatic hypotension, blood loss, or other disorders producing systemic hypotension.
Acute infarcts in the white matter medullary artery territory of the centrum ovale
Authors: Tsiskaridze A , Freitas G R de , Uldry P -A , Bogousslavsky J 
Published: November 2023

Abstract
Patchy or diffuse abnormalities of the white matter (the core of which is formed by the centrum ovale), seen as areas of decreased attenuation on computed tomographic (CT) scans and signal hyperintensity on magnetic resonance imaging (MRI), are common findings in the elderly. To avoid pathological and aetiological confusion, the term ‘leukoaraiosis’ has been proposed (from leuko ¼ white, and araiosis ¼ rarefied) for this radiological phenomenon (Hachinski et al. 1987), which can easily be distinguished from infarction on the basis of the CT criteria proposed by Steingart et al. (1987) (Table 22.1).
Medical audit and clinical governance
Authors: Armstrong David , Grace John 
Published: November 2023

Abstract
One of the key characteristics of being a member of a profession was the freedom to exert control over the content of everyday work. For the medical profession this translated as clinical autonomy, as being free to act in the best interests of the patient. However, in recent years this freedom has come in for criticism, especially in the light a number of high-profile cases of clinical incompetence exhibited by individual practitioners. The conclusion is that clinical autonomy cannot always deliver good quality care and that we can no longer rely on the individual practitioners acting independently on behalf of his or her patients. The solution has been to encourage the profession to begin to take some sort of collective responsibility for the behaviour of its members. In that way, the patients who might suffer on account of clinical weaknesses of individual practitioners might gain some protection from the interest of other practitioners in the skills and abilities of each other.
The four processes of drug therapy
Authors: Grahame-Smith D G , Aronson J K 
Published: November 2023

Abstract
The processes of drug therapy are very complex, although not more complex than the processes that underlie the illness for which therapy is being given. Historically, modern drug therapy has developed from the herbal and folklore medicine of the past, with its mixture of magic, empirical pharmacology, and faith of the patient in the doctor. Some cynics might hold that not much has changed. However, there have been changes, even though the apparent magic of drug therapy is still a potent force in its success. The changes that have occurred are in the understanding of the mechanisms of action of the drugs we use and in the optimal use of those drugs in the treatment of disease. Underlying all this is an immense amount of research in the sciences of basic and clinical pharmacology.
The pharmaceutical process: Is the drug getting into the patient?
Authors: Grahame-Smith D G , Aronson J K 
Published: November 2023

Abstract
A prescription is a complicated, often rather imprecise, set of instructions. Consider the following list of drugs that a patient admitted under our care was taking. She was a 60-year-old woman admitted as an emergency with atrial fibrillation, heart failure, hypertension, diabetes mellitus, osteoarthritis, depression, insomnia, and a urinary tract infection. For the meanings of the abbreviations used here, see p. 188.) There may have been medical justification for the prescription of each of these drugs at the time they were first prescribed. However, it was a formidable task for the patient to organize herself to remember to take 18 tablets a day, three drugs to be taken three times a day, one drug twice a day, three drugs once a day in the morning, and one at bedtime. Indeed, on most days, she had probably failed to do all this correctly.
Monitoring drug therapy
Authors: Grahame-Smith D G , Aronson J K 
Published: November 2023

Abstract
In this Chapter, we shall examine the ways in which we can obtain information to help answer these questions in clinical practice and to help to rationalize drug therapy. Questions 1 and 2 can sometimes be answered by measuring drug and metabolite concentrations in body fluids. Question 3 can sometimes be answered by direct measurement of some pharmacological effect of the drug. Question 4 can sometimes be answered by direct measurement of the therapeutic outcome.
Drug therapy in young and old people
Authors: Grahame-Smith D G , Aronson J K 
Published: November 2023

Abstract
Paediatricians tell us that neonates, infants, and children are not just small adults, and that is certainly true of the ways in which they absorb, distribute, eliminate, and respond to drugs. Although some dosage schedules for children have already been determined by clinical trial or experience, many are based on some formula relating the body weight, age, or body surface area of the child to the adult dose. Probably the best way to scale down dosages from adult dosages is in proportion to the body surface area:Dose = (patient’s body surface area/adult body surface area) adult dose.