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Professor, University of Texas Southwestern Medical School at Dallas

The National Institutes of Health provides definitions, epidemiological data, and research findings about a comprehensive range of genetic tests and genetic disorders. Public opinion data from the following organizations was also very helpful: Cogent Research Syndicated 155 Genomics Attitudes and Trends Survey and the Gallup Organization. Additionally, many colleges, universities, medical centers, professional associations, and foundations dedicated to research, education, and advocacy about genetic disorders and diseases provided up-to-date information included in this edition. If more than one table or figure appears on a particular page, the exact item number for the table or figure being referenced is provided. See Juvenile diabetes Virchow, Rudolf, 2 ``Virtual Twins: New Findings on WithinFamily Environmental Influences on Intelligence' (Segal), 48 Vries, Hugo Marie de, 5 W Wallace, Alfred Russel, 2 ``Waring blender experiment,' 9 Watson, James D. The publisher makes no warranty, express or implied, with respect to the material contained herein. The rich vocabulary of neurology replete with eponyms attests to this historically. The decline in the importance of the examination has long been predicted with the advent of more detailed neuroimaging. However, neuroimaging has often provided a surfeit of information from which salient features have to be identified, dependent upon the neurological examination. A dictionary should be informative but unless it is unwieldy, it cannot be comprehensive, nor is that claimed here. Andrew Larner has decided sensibly to include key features of the history as well as the examination. There is no doubt that some features of the history can strike one with the force of a physical sign. This book is directed to students and will be valuable to medical students, trainee neurologists, and professions allied to medicine. For the more mature student, there are the less usual as well as common eponyms to entice one to read further than the entry which took you first to the dictionary. Observing or eliciting these signs may therefore give insight into neurological disease processes. Thankfully, the clinical examination still has some supporters (not merely apologists), and neurological signs feature prominently amongst the core competencies. A wooden stick or pin is used to scratch the abdominal wall, from the flank to the midline, parallel to the line of the dermatomal strips, in upper (supraumbilical), middle (umbilical), and lower (infraumbilical) areas. The manoeuvre is best performed at the end of expiration when the abdominal muscles are relaxed, since the reflexes may be lost with muscle tensing; to avoid this, patients should lie supine with their arms by their sides. However, absence of all superficial abdominal reflexes may be of localizing value for corticospinal pathway damage (upper motor neurone lesions) above T6. Abdominal reflexes are said to be lost early in multiple sclerosis, but late in motor neurone disease, an observation of possible clinical use, particularly when differentiating the progressive lateral sclerosis variant of motor neurone disease from multiple sclerosis. However, no prospective study of abdominal reflexes in multiple sclerosis has been reported. Isolated weakness of the lateral rectus muscle may also occur in myasthenia gravis. Abduction of a paretic leg is associated with the sound leg remaining fixed in organic paresis, but in non-organic paresis there is hyperadduction. Abductor sign: a reliable new sign to detect unilateral non-organic paresis of the lower limb. Cross Reference Functional weakness and sensory disturbance Absence An absence, or absence attack, is a brief interruption of awareness of epileptic origin. Ethosuximide and/or sodium valproate are the treatments of choice for idiopathic generalized absence epilepsy, whereas carbamazepine, sodium valproate, or lamotrigine are first-line agents for localization-related complex partial seizures. More plausibly, abulia has been thought of as a minor or partial form of akinetic mutism. A distinction may be drawn between abulia major (= akinetic mutism) and abulia minor, a lesser degree of abulia associated particularly with bilateral caudate stroke and thalamic infarcts in the territory of the polar artery and infratentorial stroke.

While current techniques limit or reduce undesired motion of the spine, they do not provide true spinal immobilization. The remainder of the spine should be stabilized by keeping the head, neck and torso in alignment. This can be accomplished by placing the patient on a long backboard, a scoop stretcher, a vacuum mattress or an ambulance cot. If elevation of the head is required, the device used to stabilize the spine should be elevated at the head while maintaining alignment of the neck and torso. All patient transfers create potential for unwanted displacement of an unstable spine injury. Particular attention should be focused on patient transfers from one surface to another including, for example, ground to ambulance cot. A long spine board, a scoop stretcher, or a vacuum mattress is recommended to assist with patient transfers in order to minimize flexion, extension or rotation of the possibly injured spine. Once a patient is safely positioned on an ambulance cot, transfer or extrication devices may be removed if an adequate number of trained personnel are present to minimize unnecessary movement during the removal process. The risks of patient manipulation must be weighed against the benefits of device removal. If transport time is expected to be short, it may be better to transport a patient on the device and remove it on arrival at the hospital. Hospitals should be prepared and equipped to carefully and quickly remove patients from a long backboard, scoop stretcher or vacuum mattress as soon as possible after arrival at the hospital. Procedures should be in place to assure that a sufficient number of properly trained individuals are available to assist with patient transfers in order to minimize the risk of inadvertent displacement of a potentially unstable spinal injury. Age alone should not be a factor in decision-making for prehospital spinal care, both for the young child and the child who can reliably provide a history. Involvement in a high-risk motor vehicle collision, high impact diving injury, or has substantial torso injury. There is no evidence supporting a high risk/incidence for noncontiguous multilevel spinal injury in children. The rate of non-contiguous multilevel injury in children is thought to be equally as low. Minimize the time on backboards with consideration for use of a vacuum mattress or padding as adjuncts to minimize the risk of pain and pressure ulcers if this time is to be prolonged. Advanced Trauma Life Support Course Manual, Chapter 7, Spine and spinal cord injuries. Absence of clinical findings reliably excludes unstable cervical spine injuries in children 5 years or younger. Age-related differences in factors associated with cervical spine injuries in children. This policy statement has been published in Prehospital Emergency Care at the following location. The medical director and other local physician leaders should be responsible for establishing local processes and practices that ensure both sufficient physician training/onboarding and availability, as well as the opportunity for safe supervision of other clinicians to ensure clinical quality. The use of such protocols is a patient-centric practice that is safe and effective in enhancing patient care. Standardized protocols have the potential to reduce variation in care, enhance workflow, improve coordination of care, and modify practice through evidence-based care. Standardized protocols should be developed collaboratively by physician and nursing leadership with input from other involved hospital departments as necessary, including pharmacy, risk management, laboratory, hospital administration, etc. Standardized protocols should identify the pre-approving physician or medical staff body. Use of a standardized protocol does not, in and of itself, create a physician-patient relationship. If standardized protocols are utilized, robust education and continuous quality improvement programs should be in place. However, posted wait times should be updated at least hourly to be meaningful to patients. Emergency Department Operational Metrics, Measures and Definitions: Results of the Second Performance Measures and Benchmarking Summit.

Hair pulling does not usually occur in the presence of other individuals, except imme diate family members. Some individuals have urges to pull hair from other individuals and may sometimes try to find opportunities to do so surreptitiously. The majority of individuals with trichotillomania also have one or more other body-focused repetitive behaviors, including skin picking, nail biting, and lip chewing. Prevaience In the general population, the 12-month prevalence estimate for trichotillomania in adults and adolescents is l%-2%. Females are more frequently affected than males, at a ratio of approximately 10:1. This estimate likely reflects the true gender ratio of the condition, al though it may also reflect differential treatment seeking based on gender or cultural at titudes regarding appearance. Among children with trichotillomania, males and females are more equally represented. Onset of hair pulling in trichotillomania most commonly coincides with, or follows the onset of, puberty. The usual course of trichotillo mania is chronic, with some waxing and waning if the disorder is untreated. A minority of individuals remit without subsequent relapse within a few years of onset. Cuiture-Related Diagnostic issues Trichotillomania appears to manifest similarly across cultures, although there is a paucity of data from non-Westem regions. Diagnostic iVlarlcers Most individuals with trichotillomania admit to hair pulling; thus, dermatopathological diagnosis is rarely required. Skin biopsy and dermoscopy (or trichoscopy) of trichotillo mania are able to differentiate the disorder from other causes of alopecia. In trichotil lomania, dermoscopy shows a range of characteristic features, including decreased hair density, short vellus hair, and broken hairs with different shaft lengths. Functional Consequences of Triciiotiiiomania (Hair-Puliing Disorder) Trichotillomania is associated with distress as well as with social and occupational impair ment. Infrequent med ical consequences of trichotillomania include digit purpura, musculoskeletal injury. Swallowing of hair (trichophagia) may lead to trichobezoars, with subsequent anemia, abdominal pain, hematemesis, nausea and vomiting, bowel obstruction, and even perforation. Trichotillomania should not be diagnosed when hair removal is performed solely for cosmetic reasons. Many individuals twist and play with their hair, but this behavior does not usu ally qualify for a diagnosis of trichotillomania. Some individuals may bite rather than pull hair; again, this does not qualify for a diagnosis of trichotillomania. The description of body-focused repetitive behavior disorder in other specified obsessive-compulsive and related disorder excludes individuals who meet diagnostic criteria for trichotillomania. In neurodevelopmental disorders, hair pulling may meet the definition of stereotypies. Individuals with a psychotic disorder may remove hair in response to a delusion or hallucination. Trichotillomania is not diagnosed if the hair pulling or hair loss is attributable to another medical condition. Skin biopsy or dermoscopy can be used to differ entiate individuals with trichotillomania from those with dermatological disorders. Hair-pulling symptoms may be exacerbated by certain substances-for example, stimulants-^but it is less likely that substances are the primary cause of persistent hair pulling. Comorbidity Trichotillomania is often accompanied by other mental disorders, most commonly major depressive disorder and excoriation (skin-picking) disorder. The skin picking causes clinically significant distress or impairment in social, occupa tional, or other important areas of functioning. The skin picking is not attributable to the physiological effects of a substance. The skin picking is not better explained by symptoms of another mental disorder.

Emergency physicians practice in a variety of emergency department settings and care for patients with a wide range of conditions. Adequate in-hospital and outpatient resources must be available to protect emergency patient interests c. Emergency physicians should promote prudent resource stewardship without compromising quality d. In addition to this general obligation, emergency physicians accept specific ethical obligations that arise out of the unique features of emergency medical practice. The principles listed below express fundamental moral responsibilities of emergency physicians. Emergency physicians shall embrace patient welfare as their primary professional responsibility. Emergency physicians shall respond promptly and expertly, without prejudice or partiality, to the need for emergency medical care. Emergency physicians shall respect the rights and strive to protect the best interests of their patients, particularly the most vulnerable and those with impaired decision-making capacity. Emergency physicians shall respect patient privacy and disclose confidential information only with consent of the patient or when required by an overriding duty such as the duty to protect others or to obey the law. Emergency physicians shall deal fairly and honestly with colleagues and take appropriate action to protect patients from health care providers who are impaired or incompetent, or who engage in fraud or deception. Emergency physicians shall work cooperatively with others who care for, and about, emergency patients. Emergency physicians shall engage in ongoing study to maintain the knowledge and skills necessary to provide high quality care for emergency patients. Emergency physicians shall act as responsible stewards of the health care resources entrusted to them. Emergency physicians shall support societal efforts to improve public health and safety, reduce the effects of injury and illness, and secure access to emergency and other basic health care for all. Ethical Foundations of Emergency Medicine Although professional responsibilities have been a concern of physicians since antiquity, recent years have seen dramatic growth of both professional and societal attention to moral issues in health care. This increased interest in medical ethics is a result of multiple factors, including technological advances, the medicalization of societal ills, the growing sophistication of patients, efforts to protect disadvantaged groups, and the persistently rising costs of health care. All of these factors contribute to the significance, the complexity, and the urgency of moral questions in contemporary emergency medicine. Moral pluralism Emergency physicians can utilize a variety of sources for ethical guidance, including professional oaths and codes of ethics, cultural values, social norms embodied in the law, religious and philosophical moral traditions, clinical experience, practical reasoning skills, and professional role models. Problems arise, however, when different sources of moral guidance come into conflict. Numerous attempts have been made to propose and defend an overarching moral theory able to assess and prioritize moral claims from all of their various sources. Lacking agreement on the primacy of any one of these theories, however, we are left with multiple sources of moral guidance. The goal of bioethics is to help us understand, interpret, and weigh competing moral values as we seek reasoned and defensible solutions to moral problems encountered in health care. Moral challenges of emergency physicians the unique setting and goals of emergency medicine give rise to a number of distinctive moral challenges, including the following: a. Patients often arrive at the emergency department with acute illnesses or injuries that require immediate care. In these emergent situations, emergency physicians have little time to gather additional data, consult with others, or deliberate about alternative treatments.

Clinical signs resulting from neuropathies are of lower motor neurone type (wasting, weakness, reflex diminution, or loss). Mononeuropathies often result from local compression (entrapment neuropathy), trauma, or diabetes. Polyneuropathies may have genetic, infective, inflammatory, toxic, nutritional, and endocrine aetiologies. Many neuropathies, particularly polyneuropathies in the elderly, remain idiopathic or cryptogenic, despite intensive investigation. If these other signs are absent, then isolated nuchal rigidity may suggest a foraminal pressure cone. It may also occur in syndromes causing predominantly axial (as opposed to limb) rigidity. This nuchocephalic - 241 - N Nyctalopia reflex is present in infants and children up to the age of about 4 years. Beyond this age the reflex is inhibited, such that the head is actively turned in the direction of shoulder movement after a time lag of about half a second. Cross References Age-related signs; Primitive reflexes Nyctalopia Nyctalopia, or night blindness, is an impairment of visual acuity specific to scotopic vision, implying a loss or impairment of rod photoreceptor function. Patients may spontaneously complain of a disparity between daytime and nocturnal vision, in which case acuity should be measured in different ambient illumination. Nyctalopia may be a feature of: Retinitis pigmentosa Vitamin A deficiency Cancer-associated retinopathy: most commonly associated with small cell lung cancer (antirecoverin antibodies may be detected), though gynaecological malignancy and melanoma have also been associated (with antibipolar retinal cell antibodies in the latter). The nature of the nystagmus may permit inferences about the precise location of pathology. Observations should be made in the nine cardinal positions of gaze for direction, amplitude, and beat frequency of nystagmus. However, since it is the slow phase which is pathological, it is more eloquent concerning anatomical substrate. The intensity of jerk nystagmus may be classified by a scale of three degrees: 1st degree: present when looking in the direction of the fast phase; 2nd degree: present in the neutral position; 3rd degree: present when looking in the direction of the slow phase. Pendular or undulatory nystagmus: In which the movements of the eyes are more or less equal in amplitude and velocity (sinusoidal oscillations) about a central (null) point. This is often congenital, may be conjugate or disconjugate (sometimes monocular), but is not related to concurrent internuclear ophthalmoplegia or asymmetry of visual acuity. A slow phase with exponentially increasing velocity (high-gain instability, runaway movements) may be seen in congenital or acquired pendular nystagmus. The pathophysiology of acquired pendular nystagmus is thought to be deafferentation of the inferior olive by lesions of the red nucleus, central tegmental tract, or medial vestibular nucleus. Central vestibular: unidirectional or multidirectional, 1st, 2nd or 3rd degree; typically sustained and persistent. Cerebellar/brainstem: commonly gaze-evoked due to a failure of gaze-holding mechanisms. Congenital: usually horizontal, pendular-type nystagmus; worse with fixation, attention, and anxiety. Other forms of nystagmus include Ataxic/dissociated: in abducting >> adducting eye, as in internuclear ophthalmoplegia and pseudointernuclear ophthalmoplegia. Many pathologies may cause nystagmus, the most common being demyelination, vascular disease, tumour, neurodegenerative disorders of cerebellum and/or brainstem, metabolic causes. Pendular nystagmus may respond to anticholinesterases, consistent with its being a result of cholinergic dysfunction. Periodic alternating nystagmus responds to baclofen, hence the importance of making this diagnosis. These symptoms are thought to reflect critical compromise of optic nerve head perfusion and are invariably associated with the finding of papilloedema. Obscurations mandate urgent investigation and treatment to prevent permanent visual loss. Cross Reference Papilloedema Obtundation Obtundation is a state of altered consciousness characterized by reduced alertness and a lessened interest in the environment, sometimes described as psychomotor retardation or torpor.