bluuebunny/crossref_metadata_2025 huggingface dataset:
Chondrodysplasia with Joint Dislocations, gPAPP Type
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 48 covers chondrodysplasia with joint dislocations gPAPP type, including major clinical findings, radiographic features, and differential diagnoses.
Spondyloepimet Aphyseal Dysplasia with Joint Laxity (Mim 271640)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 50 covers spondyloepimetaphyseal dysplasia with joint laxity (MIM 271640), including major clinical findings, radiographic features, and differential diagnoses.
Achondrogenesis Type 1A (Mim 200600)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 51 covers achondrogenesis type 1A (MIM200600), including major clinical findings, radiographic features, and differential diagnoses.
Asphyxiating Thoracic Dysplasia (Mim 208500)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 54 covers asphyxiating thoracic dysplasia (MIM 208500), including major clinical findings, radiographic features, and differential diagnoses.
Ellis-Van Creveld Syndrome
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 55 covers Ellis-Van Creveld syndrome, including major clinical findings, radiographic features, and differential diagnoses.
Short Rib (-Polydactyly) Syndrome, Saldino-Noonan and Verma-Naumoff Types (MIM 263530, 263510)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 57 covers short rib (-polydactyly) syndrome, Saldino-Noonan and Verma-Naumoff types (MIM263530, 263510), including major clinical findings, radiographic features, and differential diagnoses.
Short Rib (-Polydactyly) Syndrome, Beemer-Langer Type (Mim 269860)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 58 covers short rib (-polydactyly) syndrome, Beemer-Langer type (MIM 269860), including major clinical findings, radiographic features, and differential diagnoses.
Short Rib (-Polydactyly) Syndrome, Majewski Type (Mim 263520)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 59 covers short rib (-polydactyly) syndrome, Majewski type (MIM 263520), including major clinical findings, radiographic features, and differential diagnoses.
Orofaciodigital Syndrome Type Iv (Mohr-Majewski) (Mim 258860)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 60 covers orofaciodigital syndrome type IV (Mohr-Majewski) (MIM 258860), including major clinical findings, radiographic features, and differential diagnoses.
Robinow Syndrome (Mim 180700, 268310)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 62 covers Robinow syndrome (MIM 180700, 268310), including major clinical findings, radiographic features, and differential diagnoses.
Rhizomelic/Mesomelic Dysplasias (Mim 127300)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 63 covers dyschondrosteosis (MIM 127300), including major clinical findings, radiographic features, and differential diagnoses.
Langer Mesomelic Dysplasia (Mim 249700)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 64 covers Langer mesomelic dysplasia (MIM 249700), including major clinical findings, radiographic features, and differential diagnoses.
Mesomelic Dysplasia, Kantaputra Type (MIM 156232)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 65 covers mesomelic dysplasia, Kantaputra type (MIM 156232), including major clinical findings, radiographic features, and differential diagnoses.
Mesomelic Dysplasia, Reardon-Kozlowski Type (MIM 249710)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 67 covers mesomelic dysplasia, Reardon-Kozlowski type (MIM 249710), including major clinical findings, radiographic features, and differential diagnoses.
Mesomelic Dysplasia with Acral Synostoses (Mim 600383)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 69 covers mesomelic dysplasia with acral synostoses (MIM 600383), including major clinical findings, radiographic features, and differential diagnoses.
Isolated Brachydactylies
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 72 covers isolated brachydactylies, including A1 (MIM 112500), B (MIM 113000), C (MIM 113100), E (MIM 113300), and Christian type (MIM 112450), including major clinical findings, radiographic features, and differential diagnoses for all variants.
Trichorhinophalangeal Syndrome, Type I (Mim 190350)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 73 covers trichorhinophalangeal syndrome, Type 1 (MIM 190350), including major clinical findings, radiographic features, and differential diagnoses.
Acrocapitofemoral Dysplasia (Mim 607778)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 75 covers acrocapitofemoral dysplasia (MIM 607778), including major clinical findings, radiographic features, and differential diagnoses.
Acrodysostosis (Mim 101800)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 78 covers acrodysostosis (MIM 101800), including major clinical findings, radiographic features, and differential diagnoses.
Marshall-Smith Syndrome (MIM 602535)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 79 covers Marshall-Smith syndrome (MIM 602535), including major clinical findings, radiographic features, and differential diagnoses.
Cranioectodermal Dysplasia (Mim 218330)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 82 covers cranioectodermal dysplasia (MIM 218330), including major clinical findings, radiographic features, and differential diagnoses.
Familial Digital Arthropathy with Brachydactyly (Mim 606835)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 84 covers familial digital arthropathy with brachydactyly (MIM 606835), including major clinical findings, radiographic features, and differential diagnoses.
Campomelic Dysplasia (Mim 211990, 114290)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 85 covers campomelic dysplasia (MIM 122990, 114290), including major clinical findings, radiographic features, and differential diagnoses.
Microcephalic Osteodysplastic Primordial Dwarfism, Type 1 (Mim 210710, 210730)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 90 covers microcephalic osteodysplastic primordial dwarfism, type 1 (MIM 210710, 210730), including major clinical findings, radiographic features, and differential diagnoses.
Osteopetroses
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 95 covers disorders of the osteopetroses group (Raine dysplasia [MIM 259775], infantile osteopetrosis [MIM 259700, 259710, 259720, 611490], osteopetrosis, intermediate [MIM 259710, 611497], osteopetrosis, late onset forms [MIM 607634, 166660], osteopetrosis with renal tubular acidosis [MIM 259730], including major clinical findings, radiographic features, and differential diagnoses.
Dysosteosclerosis (Mim 224300)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 96 covers dysosteosclerosis (MIM 224300), including major clinical findings, radiographic features, and differential diagnoses.
Osteomesopyknosis (Mim 166450)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 98 covers osteomesopyknosis (MIM 166450), including major clinical findings, radiographic features, and differential diagnoses.
Osteopoikilosis (Mim 166700)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 100 covers osteopoikilosis (MIM 166700), including major clinical findings, radiographic features, and differential diagnoses.
Major Clinical Findings
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 101 covers melorheostosis (MIM 155950), including major clinical findings, radiographic features, and differential diagnoses.
Osteoectasia with Hyperphosphatasia (Mim 239000)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 104 covers osteoectasia with hyperphosphatasia (MIM 239000), including major clinical findings, radiographic features, and differential diagnoses.
Endosteal Hyperostosis, Van Buchem Type (Mim 239100, 269500)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 105 covers endosteal hyperostosis, van Buchem type (MIM 239100, 269500), including major clinical findings, radiographic features, and differential diagnoses.
Camurati-Engelmann Disease (Mim 131300)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 106 covers Camurati-Englemann disease (MIM 131300), including major clinical findings, radiographic features, and differential diagnoses.
GHOSAL HEMATODIAPHYSEAL DYSPLASIA (MIM 231095)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 107 covers Ghosal hematodiaphyseal dysplasia (MIM 231095), including major clinical findings, radiographic features, and differential diagnoses.
Craniodiaphyseal Dysplasia (Mim 112860, 218300)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 113 covers craniodiaphyseal dysplasia (MIM 112860, 218300), including major clinical findings, radiographic features, and differential diagnoses.
Craniometaphyseal Dysplasia (Mim 123000; 218400)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 114 covers craniometaphyseal dysplasia (MIM 123000, 218400) including major clinical findings, radiographic features, and differential diagnoses.
Oculodentoosseous Dysplasia (Mim 164200)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 117 covers oculodentoosseous dysplasia (MIM 164200), including major clinical findings, radiographic features, and differential diagnoses.
Osteogenesis Imperfecta
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 119 covers disorders of the osteogenesis imperfecta group (Type 1 (MIM 116200), Type IIA (MIM 166210), Type IIC, Ypte III/IIB (MIM 259420), and Types IV and V (MIM 166220, 610967), including major clinical findings, radiographic features, and differential diagnoses.
Juvenile Idiopathic Osteoporosis (Mim 259750)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 120 covers juvenile idiopathic osteoporosis (MIM 259750), including major clinical findings, radiographic features, and differential diagnoses.
Singleton-Merten Syndrome (Mim 182250)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 122 covers Singleton-Merten syndrome (MIM 182250), including major clinical findings, radiographic features, and differential diagnoses.
Calvarial Doughnut Lesions-Osteoporosis Syndrome (Mim 126550)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 125 covers calvarial doughnut lesions-osteoporosis syndrome (MIM 126550) , including major clinical findings, radiographic features, and differential diagnoses.
Cole-Carpenter Syndrome (Mim 112240)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 126 covers Cole-Carpenter syndrome (MIM 112240), including major clinical findings, radiographic features, and differential diagnoses.
Gnathodiaphyseal Dysplasia (Mim 166260)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 128 covers gnathodiaphyseal dysplasia (MIM 166260), including major clinical findings, radiographic features, and differential diagnoses.
Multicentric Carpal-Tarsal Osteolysis (MIM 166300)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 141 covers multicentric carpal-tarsal osteolysis (MIM 166300), including major clinical findings, radiographic features, and differential diagnoses.
Progressive Osseous Heteroplasia (MIM 166350)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 144 covers progressive osseous heteroplasia (MIM 166350), including major clinical findings, radiographic features, and differential diagnoses.
Fibrodysplasia Ossificans Progressiva (MIM 135100)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 147 covers fibrodysplasia ossificans progressiva (MIM 135100), including major clinical findings, radiographic features, and differential diagnoses.
Enchondromatosis (Ollier Disease) (MIM 166000)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 149 covers enchondromatosis (Ollier disease) (MIM 166000), including major clinical findings, radiographic features, and differential diagnoses.
Metaphyseal Chondromatosis with 2-Hydroxyglutaric Aciduria
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 150 covers metaphyseal chondromatosis with 2-hydroxyglutaric aciduria, including major clinical findings, radiographic features, and differential diagnoses.
Metachondromatosis (MIM 156250)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 152 covers metachondromatosis (MIM 156250), including major clinical findings, radiographic features, and differential diagnoses.
Cleidocranial Dysplasia (Mim 119600)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 153 covers cleidocranial dysplasia (MIM 119600), including major clinical findings, radiographic features, and differential diagnoses.
Yunis-Varon Syndrome (MIM 216340)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 154 covers Yunis-Varon syndrome (MIM 216340), including major clinical findings, radiographic features, and differential diagnoses.
Cdags (Mim 603116)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 155 covers CDAGS (MIM 603116), including major clinical findings, radiographic features, and differential diagnoses.
Antley-Bixler Syndrome (Mim 201750)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 158 covers Antley-Bixler syndrome (MIM 201750), including major clinical findings, radiographic features, and differential diagnoses.
Saethre-Chotzen Syndrome (MIM 101400)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 159 covers Saethre-Chotzen syndrome (MIM 101400), including major clinical findings, radiographic features, and differential diagnoses.
Baller-Gerold Syndrome (MIM 218600)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 160 covers Baller-Gerold syndrome (MIM 218600), including major clinical findings, radiographic features, and differential diagnoses.
Spondylocostal Dysostoses (MIM 122600, 277300, 608681, 609813)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 163 covers spondylocostal dysostoses (MIM 122600, 277300, 608681, 609813), including major clinical findings, radiographic features, and differential diagnoses.
Cerebrocostomandibular Syndrome (MIM 117650)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 165 covers cerebrocostomandibular syndrome (MIM 117650), including major clinical findings, radiographic features, and differential diagnoses.
Roberts/Sc Phocomelia Syndrome (Mim 268300, 269000)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 167 covers Roberts/SC phocomelia syndrome (MIM 268300, 269000), including major clinical findings, radiographic features, and differential diagnoses.
Ectrodactyly -Ectodermal Dysplasia-Cleft Lip/Palate Syndrome and Isolated Ectrodactyly (Mim 129900; 604292; 119100; 313350; 600095; 605289; 603273; 225300)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 168 covers ectrodactyly-ectodermal dysplasia - cleft lip/palate syndrome and isolated ectrodactyly (MIM 129900, 604292, 119100, 313350, 605289, 603273, 225300), including major clinical findings, radiographic features, and differential diagnoses.
Femoral Hypoplasia-Unusual Facies Syndrome (FHUFS) (MIM 134780)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 169 covers femoral hypoplasia-unusual facies syndrome (FHUFS) (MIM 134780), including major clinical findings, radiographic features, and differential diagnoses.
Catel-Manzke Syndrome (Mim 302380)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 174 covers Catel-Manzke syndrome (MIM 302380), including major clinical findings, radiographic features, and differential diagnoses.
Poland Syndrome (MIM 173800)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 175 covers Poland syndrome (MIM 173800), including major clinical findings, radiographic features, and differential diagnoses.
Greig Cephalopolysyndactyly Syndrome (Mim 175700)
Authors: Spranger Jürgen W. , Brill Paula W. , Nishimura Gen , Superti-Furga Andrea , Unger Sheila
Published: February 2014

Chapter 176 covers Greig cephalopolysyndactyly syndrome (MIM 175700), including major clinical findings, radiographic features, and differential diagnoses.
Classification
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Chapter 2 discusses the principles of psychiatric diagnosis and classification, since this provides the framework within which this clinical process happens. The term nosology is sometimes used to refer to classification and its study. It also covers why classification is needed in psychiatry, including enabling clinicians to communicate with one another about the diagnoses given to their patients, understanding the implications of these diagnoses in terms of their symptoms, prognosis, and treatment, and sometimes their aetiology, relating the findings of clinical research to patients seen in everyday practice, facilitating epidemiological studies and the collection of reliable statistics, and ensuring that research can be conducted with comparable groups of subjects.
Assessment
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Chapter 3 covers the process of psychiatric assessment, which can be broken down into the following stages: preparation, collection of information, evaluation of information, using the information, and recording and communicating the assessment and its conclusions. This chapter covers these areas in turn, concentrating on the full initial assessment of a patient by a general adult psychiatrist. It also discusses how this process should be adapted in other circumstances. First, however, the basic process of psychiatric interviewing will be outlined.
Ethics and civil law
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Chapter 4 is concerned with the ways in which general ethical principles, relating to matters such as confidentiality, consent, and autonomy, are applied to the care of people with mental disorders. It assumes that the reader has already studied ethical aspects of general medicine, otherwise they should consult Hope et al. (2008) or a comparable textbook of medical ethics. Ethical considerations are extremely important in all branches of medicine. However, in psychiatry they have additional importance because some patients lack the capacity to make judgements about their own need for care, and because of the provision for involuntary treatment. Questions about capacity to consent to treatment of psychiatric illness commonly arise, and psychiatrists are sometimes asked by colleagues in other specialties for advice about capacity to consent to treatment for physical illness. This chapter also considers some aspects of the Mental Health Act and the law relevant to psychiatry.
Aetiology
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Psychiatrists are concerned with aetiology in two ways. First, in everyday clinical work they try to discover the causes of the mental disorders presented by individual patients. Secondly, in seeking a wider understanding of psychiatry they are interested in aetiological evidence obtained from clinical studies, community surveys, or laboratory investigations. Correspondingly, the first part of chapter 5 deals with some general issues relating to aetiology in the assessment of the individual patient, while the second part deals with the various scientific disciplines that have been applied to the study of aetiology.
Personality and personality disorder
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Chapter 7 discusses personality and personality disorder, and covers personality types, the origin and assessment of personality, historical development about ideas of the disorder, classification, diagnostic criteria, rates in the clinic and general population, aetiology, course, treatment, management of specific personality disorders, and ethical problems.
Anxiety and obsessive–compulsive disorders
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Chapter 9 discusses how the symptom of anxiety is found in many disorders. In the anxiety disorders, it is the most severe and prominent symptom, and it is also prominent in the obsessional disorders, although these are characterizedby their striking obsessional symptoms. In DSM-IV, obsessive–compulsive disorder is classifi ed as a type of anxiety disorder, but in ICD-10 it is classified separately. We have followed the DSM convention and included obsessional disorders in this chapter, as well as covering generalized anxiety disorder (GAD), phobias, panic, mixed anxiety and depression, transcultural variations, and obsessive-compulsive disorder (OCD).
Mood disorders
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Chapter 10 discusses mood disorders, including clinical features, transcultural features, classification and differential diagnosis, epidemiology and aetiology, course and prognosis, acute treatment of depression and mania, longer-term treatment strategies, assessment and management of depressive disorders, assessment of mania, and management of manic patients.
Eating, sleep, and sexual disorders
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Chapter 14 covers the drives to eat, sleep, and have sex, which can all be impaired or become otherwise dysfunctional in many psychiatric and medical disorders. They can also all be primary disorders, and it is the latter which are the focus of this chapter, including eating disorders not otherwise specified (EDNOS), and disorders of sexual function, preferences, and gender identity.
Psychiatry and medicine
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Chapter 15 considers the relevance of psychiatry to the rest of medical practice. It should be read in conjunction with the other chapters in this book, especially Chapters 8 and 13. It covers mind-body dualism, epidemiology and presentation in medical settings, comorbidity, management of psychiatric disorders in the medically ill, unexplained somatic symptoms, somatoform and dissociative disorders, psychiatric services in medical settings, psychiatric aspects of medical procedures and conditions, and psychiatric aspects of obstetrics and gynaecology.
Suicide and deliberate self-harm
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Chapter 16 covers suicide and deliberate self-harm, and covers assessment of risk, management of suicidal patients, suicide prevention, and deliberate self-harm, and its management.
Psychological treatments
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Chapter 20 is concerned with various kinds of counselling, psychotherapy, behavioural and cognitive therapies, and some related techniques. It addresses that this chapter should be read in conjunction with the general advice about treatment in the chapters on physical treatment and on services, that this chapter contains advice on the general value of various treatments. Advice about the value of these treatments for specific disorders is given in the chapters concerned with the relevant disorders, that psychological treatments are often combined with medication, and appropriate ways of doing this are considered in the chapters concerned with the relevant disorders, that because many different techniques of treatment are considered here, none can be described in detail, and suggestions for further reading are given in several places in the chapter, and lastly, that although outline descriptions of technique are given in several places, supervised experience is essential before any of these treatments can be used with patients.
Psychiatric services
Authors: Cowen Philip , Harrison Paul , Burns Tom
Published: February 2014

Chapter 21 is concerned with the provision of psychiatric care for populations. It deals mainly with the needs of and provisions for people aged 18–65 years (‘adults of working age’). It covers the history of psychiatric services, the components of a mental health service, services for psychiatric disorder in primary care, specialist services for acute psychiatric disorder, psychiatric services that provide long-term care, services for people with particular needs, difficulties with community care, and international service principles.
Overview and Historical Perspective
Authors: Stern Gerald
Published: February 2014

While early descriptions were inextricably influenced by mythology, magic, religion, superstition, traditional philosophies, and interpretations by shamans, obvious disorders of movement should have attracted ‘clinical’ attention. Interpretation of texts, such as the above, continue to remain uncertain. Certain early observations were remarkably sophisticated. In the Holy City of Varanasi (formerly Benares), within the Hindu University of India, original Sanskrit texts and incunabula reveal the contributions of Ayurvedic medicine (5000–3000 BC ). So far, apart from a few Mendelian single-gene neurodegenerative disorders such as Huntington’s disease, tuberous sclerosis, spinal muscular atrophy, and myotonic dystrophies, the gap between genotype and phenotype remains vast and largely incomprehensible to clinicians. It seems that a quantum leap or paradigm shift is now required for us to evolve from traditional disease definitions and embrace the concept that all disease manifestations must be understood in complex molecular terms. Definitions such as ‘the emergent properties of molecular networks as opposed to the core biological processes driven by responses to changes in a small number of genes’ do not yet come easily to clinicians.
Neuroanatomy for the Movement Disorder Specialist
Authors: Halliday Glenda M. , Tan Rachel , Cartwright Heidi
Published: February 2014

Normal voluntary movement is achieved by the coordination and refinement of neural activity from many interconnected brain regions onto populations of motor neurons. Conscious neural control is achieved through activation of corticospinal neurons in frontal motor cortical regions. These regions have diverse functions, with the primary motor cortex directly innervating motor neurons and other motor cortices mainly innervating excitatory and inhibitory spinal interneurons. Interconnections between the cortex and thalamus determine cortical activity, facilitating information transfer from one cortical region to another through feedforward and feedback mechanisms. These thalamocortical relays are regulated by two major subcortical systems—the basal ganglia and the cerebellum. The basal ganglia process cortical information to inhibit thalamocortical motor activity through three intersecting pathways (hyperdirect, direct, and indirect). The cerebellum processes cortical, brainstem, and spinal information to excite thalamocortical and bulbospinal motor activity. In order to automate some purposeful movements, networks of brainstem and spinal neurons (called central pattern generators) interact relatively independently, following appropriate cortical stimuli. In addition, muscles require a certain level of tone to be able to move body parts and a great deal of coordination to maintain postural control during movement. This is achieved involuntarily through a network of excitatory and inhibitory reticulospinal and spinal interneurons. Disruption to different parts of this complex neuroanatomical network produces very diverse movement abnormalities.
Functional Aspects of the Basal Ganglia
Authors: Wichmann Thomas
Published: February 2014

The basal ganglia are a group of subcortical structures, including the striatum, the globus pallidus, the substantia nigra, and the subthalamic nucleus. Current hypotheses regarding the behavioural function of these structures exploit several major anatomical characteristics that have been identified over the last decades. One is that the basal ganglia participate in a family of segregated and similarly structured circuits that also involve thalamus and cortex. Therefore, depending on the cortical inputs, the basal ganglia may perform the same general processing functions in motor and non-motor domains of behaviour. Another functionally relevant feature is that they provide strong inhibitory inputs to their downstream targets. Modulation of the degree of inhibition of thalamic and cortical activities is thought to be relevant for response inhibition functions, limiting cortically initiated behaviours, as well as in action selection or in the scaling of movement parameters. A third functionally important characteristic is that synapses in the major input structure of the basal ganglia, the striatum, were found to be highly modifiable. The strengths of corticostriatal synapses appear to be constantly adjusted to situational demands through the interplay of neuromodulators such as dopamine and acetylcholine, leading to the hypothesis that the basal ganglia are critical for learning functions, specifically for procedural or reward-based learning, or the acquisition of movement sequences. However, several major gaps remain in our understanding of basal ganglia anatomy and function, specifically with regard to their descending (brainstem) projections, and their interactions with other brain regions, such as thalamus or cerebellum.
Movement Disorders: Structural and Functional Imaging
Authors: Brooks David J.
Published: February 2014

In this chapter the value of structural and functional imaging for diagnosing, understanding, and managing movement disorders and their complications will be discussed. The relative roles of magnetic resonance imaging, transcranial sonography, positron emission tomography (PET), and single photon emission computed tomography (SPECT) will be contrasted. It is argued that imaging biomarkers play a valuable role in supporting diagnoses in parkinsonian disorders when these are unclear and in providing a rationale for the use of dopaminergic medications. Imaging can also detect subclinical disease activity in at-risk subjects and monitor the functional effects of putative neuroprotective and restorative therapies.
Genetic Techniques, Impact and Diagnostic Issues in Movement Disorders
Authors: Brás José , Hardy John
Published: February 2014

Genetic techniques have recently revolutionized the fields of research and diagnosis for a variety of disorders, including movement disorders. Research has moved from single-gene analysis to whole-genome assays, and these have greatly increased our knowledge of the aetiology of these diseases. In parallel, diagnosis using these approaches is becoming a reality that implies lower cost and a much shorter turnaround time. In this chapter we will discuss how these technologies have changed the field of molecular genetics of disease and how they are applicable to diagnostic approaches.
Parkinson’s Disease: Premotor Features, Diagnosis, and Early Management
Authors: Schapira Anthony H.V. , Gallagher David
Published: February 2014

Parkinson’s disease (PD) is a neurodegenerative disease, the initial clinical features of which are the result of loss of dopaminergic neurons in the substantia nigra pars compacta of the midbrain. As the disease progresses the involvement of additional brain areas in the degenerative process produces predominantly non-dopaminergic, non-motor features (e.g cognitive decline and autonomic dysfunction). Although the classic clinical triad of bradykinesia, rigidity, and tremor still defines PD and enables a diagnosis, it is recognized that the disease process has evolved for many years, if not decades, before these clinical features appear. Certain non-motor symptoms may appear before a diagnosis of PD can be made, and these may represent risk factors for the disease or even prodromal PD. These features include hyposmia, rapid eye movement sleep behaviour disorder, depression, and constipation.
Non-motor Symptom Management in Parkinson’s Disease
Authors: Tolosa Eduardo , Gaig Carles , Acevedo Lillian
Published: February 2014

Interest in non-motor symptoms (NMS) in Parkinson’s disease (PD) has increased in recent years. Unlike the classic motor symptoms that can respond to dopaminergic treatment and functional neurosurgery, NMS generally fail to improve with currently available treatments. Consequently, they are a major source of disability and frequently impact negatively upon the patient’s quality of life. Interest in NMS in PD has also increased after it became evident that some NMS antedate the classic motor signs of PD. An understanding of the nature of NMS in pre-motor PD may provide information about the causes of PD and aid in the study of drugs with neuroprotective potential.
Multiple System Atrophy (MSA)
Authors: Wenning Gregor K. , Krismer Florian
Published: February 2014

Multiple system atrophy (MSA) is an adult-onset atypical parkinsonian disorder (APD) characterized by either rapidly progressive levodopa-unresponsive parkinsonism or a cerebellar syndrome associated with early autonomic failure. According to current consensus criteria two motor subtypes can be distinguished clinically, namely a parkinsonian variant labelled MSA-P and a cerebellar variant labelled MSA-C . Abundant (oligodendro-)glial cytoplasmic inclusions (GCI) represent the histopathological signature lesion that is accompanied by a selective neuronal multisystem degeneration. The principle component of GCIs is α-synuclein, a finding which firmly places MSA among other α-synucleinopathies such as Parkinson’s disease (PD) and dementia with Lewy bodies (DLB). Currently, the management of MSA patients is based on symptomatic treatment targeting parkinsonian and autonomic features. Although research into disease-modifying strategies has accelerated, effective neuroprotective treatments are still lacking.
Dystonia: An Overview
Authors: Bhatia K.P. , Stamelou M. , Bressman S.
Published: February 2014

Dystonia is a movement disorder characterized by sustained muscle contractions which cause twisting and repetitive movements or abnormal postures. Dystonia is a feature of a heterogeneous group of disorders with various aetiologies, pathophysiology, and phenotypes. Primary dystonias include conditions in which dystonia is the only sign (e.g. DYT1/6), while in dystonia-plus syndromes further signs are present (e.g. DYT5/11); in both primary and dystonia-plus syndromes there is no secondary cause or neurodegeneration. Eleven genes have been identified as causing these disorders, and the phenotypic spectrum varies from young-onset generalized or adult-onset focal dystonia to complex clinical pictures with parkinsonism, myoclonus, or paroxysmal forms. Dystonia can also be secondary to an identified neurological condition (e.g. brain lesions, infections, use of dopamine receptor blocking drugs) or heredodegenerative, when dystonia is a feature amongst other signs of a heredodegenerative disorder (e.g. Wilson’s disease). The differential diagnosis between primary/dystonia-plus and secondary/heredodegenerative dystonia is dictated by clinical clues (age of onset, distribution, other signs), but also by supportive investigations, and is crucial for genetic counselling, prognosis and treatment. Primary dystonias plateau after some years and their distribution depends on age at onset, while heredodegenerative dystonias tend to progress and their distribution depends on the underlying condition. With regard to treatment, botulinum toxin injections are the first-line treatment for primary adult-onset craniocervical dystonia, oral treatment and deep brain stimulation of the internal segment of the globus pallidus seem to be more efficacious for young-onset generalized forms, and the treatment of secondary/heredodegenerative dystonias depends on the underlying condition.
Paroxysmal Movement Disorders
Authors: Armstrong Melissa J. , Weiner William
Published: February 2014

Paroxysmal movement disorders are characterized by distinct episodes of abnormal movements. These episodes have abrupt onset, variable duration, and a discrete conclusion on top of a normal or stable neurological baseline. Clinical phenomenology during the attacks is divided into dyskinesia—including chorea, athetosis, dystonia, and/or ballismus—and ataxia. By convention these are labelled paroxysmal dyskinesias and episodic ataxias. Because of the intermittent nature of these movement disorders, diagnosis is usually made from clinical and family history. Recent advances in genetics have identified causative mutations for many of these disorders.
Oxford Handbook of Clinical Medicine
Authors: Longmore Murray , Wilkinson Ian , Baldwin Andrew , Wallin Elizabeth
Published: February 2014

Now in its ninth edition, the Oxford Handbook of Clinical Medicine continues to be the definitive guide to medicine. The culmination over 25 years of experience at the bedside and in the community, this resource is packed with practical advice, wit, and wisdom. It presents clinical information in a clear way that makes it easy to revise, remember, and implement on the ward. It gives reliable advice on what to do, and when and how to do it, with clinical photographs and diagrams that bring theory to life. Uniquely, it weaves history, literature, art, and philosophy into its survey of medicine, casting new light on the specialties and encouraging the reader to see beyond the practical aspects of medicine and adopt a patient-centred approach to care. With a more modern design and over 600 colour images and illustrations, this title has been completely revamped with systematic flowcharts and new illustrations so that it better reflects real bedside practice and is easier to use. Every chapter has been composed with supervision from experts in each field to ensure accuracy, and updated to reflect relevant guidelines from the NHS, NICE, the Resuscitation Council, and other key professional bodies.
Rheumatology
Authors: Longmore Murray , Wilkinson Ian B. , Baldwin Andrew , Wallin Elizabeth
Published: February 2014

The rheumatological history

Assessing the locomotor system

Rheumatological investigations

Back pain

Osteoarthritis (oa)

Septic arthritis

Rheumatoid arthritis (ra)

Crystal arthropathies:

Gout

cppd arthropathy

Spondyloarthritides:

Ankylosing spondylitis (as)

Enteropathic, psoriatic and reactive arthritis

Autoimmune connective tissue diseases:

Mixed connective tissue disease...
Principles of clinical examination in children
Authors: Jandial Sharmila , Foster Helen
Published: February 2014

The clinical examination of children and adolescents is an essential component of assessment, facilitates appropriate interpretation of investigations and is integral to the process of making a diagnosis. The clinical assessment of children and young people differs from that of adults, requiring greater reliance on physical examination as the history may be vague and illocalized and requires knowledge of normal musculoskeletal development, normal motor milestones and different patterns of clinical presentations across the ages. The interpretation of clinical findings needs to be in the context of the whole child and the clinical presentation. The degree of expertise required in clinical skills varies with the clinical practice of the examiner and ranges from the basic screening assessment to a more detailed examination of joints, muscles and anatomical regions. The evidence base for clinical assessment in children and young people is accruing and undoubtedly, competent clinical skills requires learning to be embedded in core child health teaching and assessment starting at medical school and reinforced in postgraduate training.
Principles of clinical examination in adults
Authors: Kay Lesley
Published: February 2014

Clinical examination of the musculoskeletal system is upheld as being of fundamental importance, and yet it is generally poorly performed, and individual clinical examination tests have a scanty evidence base.
This chapter covers the importance of musculoskeletal examination skills and evidence that such skills have been poorly taught and are poorly performed in practice. Surveys of practitioners show low confidence in the ability to perform musculoskeletal examination. Reviews of clinical practice show low levels of undertaking and recording of musculoskeletal examination, and many conditions are missed. The chapter describes also the efforts made to address and improve this situation and describes in particular two programmes of examination. These are the Gait, Arms, Legs and Spine (GALS) screening examination, and the Regional Examination of the Musculoskeletal System (REMS) core set of examination skills for medical students. These are based on best available evidence and consensus, and have a limited evaluation. Short courses based on these skills show an increase in confidence which appears to be maintained in the short term. Postgraduate examination skills requirements are less well defined. Examination tests should be evaluated in terms of their validity, reproducibility, sensitivity, and specificity in the situations in which they are to be used. Rheumatologists and others using this textbook will be in key positions to address the training and competence of doctors and other practitioners working with patients with musculoskeletal conditions in their normal working lives as well as in formal teaching situations.
Monoarticular disease
Authors: Lillicrap Mark , Abdullah Shazia
Published: February 2014

Non-traumatic monoarthritis is a common presenting problem in both primary and secondary care. The differential diagnosis is broad, encompassing both inflammatory and non-inflammatory causes. A careful history and examination will allow the underlying cause to be elicited in many cases. However, particularly in the acute setting, the history and examination findings do not allow exclusion of the diagnosis of primary concern-septic arthritis. Arthrocentesis with Gram stain and culture of the aspirated fluid, alongside polarized light microscopy, is the key initial investigation in any patient with an acute monoarthritis. Additional laboratory and radiological investigations can supplement the diagnostic reasoning process, in cases where the diagnosis remains unclear.
Oligoarticular disease
Authors: Keat Andrew
Published: February 2014

Oligoarthritis is a pattern of arthritis which most commonly resolves into a member of the spondyloarthritis family or sarcoidosis. Uncommonly it progresses to forms of arthritis more commonly associated with polyarthritis or monoarthritis and rarely it is associated with malignant or paraneoplastic syndromes. Three key aspects of diagnosis are consideration of possible diagnoses in the patient's age and ethnic groups; careful consideration of the personal and family history; and a search for and correct identification of characteristic associated features. This frequently involves collaborative working with other specialists including dermatologists, ophthalmologists, genitourinary physicians, respiratory physicians, and others. Precise diagnosis usually then involves subsequent investigation for diagnostic features including evidence of recent infection, HLA B27, autoantibodies, tissue-specific features of sarcoidosis, inflammatory bowel disease, and, occasionally, malignant disease. Management is dependent on clear diagnosis and precise delineation of underlying conditions such as infection.
The purpose of this chapter is to provide a guide to the diagnostic approach and an algorithm for routine clinical practice. Detailed descriptions of the conditions included and investigations appropriate for the establishment or exclusion of individual diagnoses are discussed elsewhere in this volume.