Abstract:
:Glycogen is a crucial source of energy in the initial stages of muscle activity and during exercise of high intensity. There are 10 well-defined biochemical defects of glycogen metabolism expressed in muscle and affecting the following enzymes: alpha 1,4 glucosidase (glycogenesis type II), debrancher enzyme (III), brancher enzyme (IV), phosphorylase (V), phosphofructokinase (VII), phosphorylase b kinase (VIII), phosphoglycerate kinase (IX), phosphoglycerate mutase (X), lactate dehydrogenase (XI). These disorders cause two main syndromes: one characterized by exercise intolerance with cramps and myoglobinuria, the other by fixed weakness. However, there are examples of clinical and biochemical heterogeneity for each disease, and molecular genetic analysis is already showing evidence of genetic heterogeneity. Although our understanding of the biochemical errors has progressed considerably, the pathogenesis of symptoms and signs remains incomplete.
journal_name
Neurol Clinjournal_title
Neurologic clinicsauthors
Servidei S,DiMauro Ssubject
Has Abstractpub_date
1989-02-01 00:00:00pages
159-78issue
1eissn
0733-8619issn
1557-9875journal_volume
7pub_type
杂志文章,评审abstract::The fourth edition of The Diagnostic and Statistical Manual of Mental Disorders defines delirium as "a reversible state of confusion with a reduced level of consciousness manifest as an inability to focus, sustain or shift attention." Pharmacologic agents are important contributors to delirium in hospitalized elderly ...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2004.01.001
更新日期:2004-05-01 00:00:00
abstract::The nosology of dementia has evolved from the simple distinctions between senility, degenerative dementia, and vascular insults that existed a few decades ago. The differentiation of normal cognitive aging from very mild dementia has sharpened considerably; however, appreciation of the heterogeneity of Alzheimer's dis...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/s0733-8619(05)70225-5
更新日期:2000-11-01 00:00:00
abstract::In this review, the authors present a critical overview of the historical development, indications, complications, operative techniques, and results of procedures for the alleviation of the major dyskinesias. Emphasis is placed upon recent refinement of technique, particularly stereotaxis, as well as neurophysiologic ...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:
更新日期:1987-11-01 00:00:00
abstract::Rapidly progressive dementias (RPDs) are neurologic conditions that develop subacutely over weeks to months or, rarely, acutely over days. In contrast to most dementing conditions that take years to progress to death, RPD quickly can be fatal. It is critical to evaluate patients who have RPD without delay, usually in ...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2007.04.001
更新日期:2007-08-01 00:00:00
abstract::Use of the somatosensory evoked potential (SEP) in the evaluation of the peripheral nervous system is described. When using SEPs to evaluate peripheral nervous system disease, it is assumed that the central nervous system is intact. SEPs can be used to measure conduction through nerves that, by nature of their anatomi...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:
更新日期:1988-11-01 00:00:00
abstract::Despite major medical advances, such as the introduction of the rubella vaccine and prolonged postnatal therapy of infants with congenital toxoplasmosis, intrauterine infections remain important causes of deafness, vision loss, and behavioral or neurologic disorders among children worldwide. This article describes the...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/s0733-8619(02)00014-2
更新日期:2002-11-01 00:00:00
abstract::This article describes the physiologic and neural mechanisms that cause neuromuscular fatigue in racquet sports: table tennis, tennis, squash, and badminton. In these intermittent and dual activities, performance may be limited as a match progresses because of a reduced central activation, linked to changes in neurotr...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2007.11.011
更新日期:2008-02-01 00:00:00
abstract::The clinician should be alert to the possibility of cerebrovascular disease in cancer patients who develop signs of diffuse or focal cerebral dysfunction. The cause of cerebrovascular disease can usually be determined by knowing the primary tumor type, extent of metastatic disease, and type of antineoplastic treatment...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:
更新日期:1991-11-01 00:00:00
abstract::This article concentrates primarily on infections of viral origin, although numerous microorganisms can infect the fetal and newborn brain (see Tables 1 and 2). Intrauterine infections occur most often for HIV, CMV and rubella, whereas HSV is preferentially transmitted intrapartum. In the last decade, changes in the e...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:
更新日期:1994-08-01 00:00:00
abstract::This article reviews the evidence for comorbidity of migraine with psychiatric disorders, particularly the affective and anxiety disorders. Studies of the association between migraine and depression in both clinical and community studies have provided consistent evidence regarding a substantial degree of comorbidity b...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/s0733-8619(05)70298-x
更新日期:1997-02-01 00:00:00
abstract::There should be a collaborative evaluation of a child with apparent learning disabilities. This article describes what the neurologist can expect from the other disciplines and how the services can be coordinated, using either the multidisciplinary services of a clinic or comprehensive assessment by a private practiti...
journal_title:Neurologic clinics
pub_type: 杂志文章
doi:
更新日期:1984-02-01 00:00:00
abstract::Tuberous sclerosis is a multisystem disorder characterized by changes primarily involving the skin, eye, and central nervous system. Although the disease often produces mental retardation and seizures, this is not universal, and some patients with tuberous sclerosis lead a relatively normal life. ...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:
更新日期:1987-08-01 00:00:00
abstract::The criteria that characterize restless legs syndrome (RLS) and the differential diagnoses are discussed. Clinical signs include sleep disturbance, involuntary movements in sleep or wakefulness, a normal neurologic examination, a chronic clinical course, and, in some cases, a positive family history. Periodic limb mov...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/s0733-8619(05)70277-2
更新日期:1996-08-01 00:00:00
abstract::Parasomnias are classified into nonrapid eye movement and rapid eye movement sleep parasomnias. It is important for the clinician to consider other parasomnia mimics that present to the sleep disorders clinic. These conditions can be differentiated by taking a detailed sleep history and conducting nocturnal polysomnog...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2012.08.016
更新日期:2012-11-01 00:00:00
abstract::Overall, the majority of patients with optic pathway tumors will have stable disease regardless if they are radiated or receive chemotherapy. This is a very indolent tumor system and, for the most part, not a threat to life. Because of this, issues regarding appropriate therapeutic approaches have yet to be resolved. ...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:
更新日期:1991-05-01 00:00:00
abstract::Most CNS fungal infections can be divided into those that occur in normal hosts and those that occur in the immunosuppressed host. Cryptococcal infection, however, is common in both groups. The usual clinical presentation of a CNS fungal infection is chronic headache and mental status change. The CSF shows a lymphocyt...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:
更新日期:1986-02-01 00:00:00
abstract::The oldest-old represent the fastest growing segment of society, and the risk of developing dementia continues to increase with advancing age into the 9th and 10th decades of life. The most common form of dementia in the oldest-old is Alzheimer disease (AD), although there are often mixed pathologies contributing to d...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2017.01.006
更新日期:2017-05-01 00:00:00
abstract::Sports-related concussions (SRCs) are common among athletes in the United States. Most athletes who sustain an SRC recover within 7 to 10 days; however, many athletes who sustain the injury do not recover as expected and experience prolonged, persistent symptoms. In this document, the authors provide an overview of th...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2017.03.008
更新日期:2017-08-01 00:00:00
abstract::A specific genetic diagnosis can be reached for most children with muscular dystrophy. Advanced diagnostics, including genetic testing and analysis of nonmuscle tissues, such as skin and blood, often allow the diagnosis to be reached using minimally invasive procedures. These diagnostic advances accompany improved und...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/s0733-8619(03)00065-3
更新日期:2003-11-01 00:00:00
abstract::The neurologic manifestations of gastrointestinal disease are generally thought to be uncommon, although an increasing number of previously unidentified associations are being established. These neurologic disorders may result from nutritional or non-nutritional causes. In the absence of clear malnutrition, it is like...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:
更新日期:1989-08-01 00:00:00
abstract::Idiopathic intracranial hypertension is a syndrome of increased intracranial pressure of unknown cause that most often occurs in women of childbearing age. Most patients are overweight or obese with a history of recent weight gain. Following a brief review of the symptoms and signs, we discuss the approach to assessme...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2020.09.008
更新日期:2021-02-01 00:00:00
abstract::Unresponsive patients with or without catatonic motor signs are etiologically heterogeneous, and all require a comprehensive neurodiagnostic assessment to rule out organic causes. Most cases prove to be due to primary psychiatric disorders, mostly mood disorders, especially mania, rather than schizophrenia. These pati...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2011.07.006
更新日期:2011-11-01 00:00:00
abstract::This article provides a brief overview of the psychiatric syndromes most common in the elderly patient, as well as those most frequently accompanying neurologic disease. Diagnosis, work up, and treatment of depressive, psychotic, and anxiety disorders are also reviewed. This article is directed toward the practicing n...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/s0733-8619(05)70084-0
更新日期:1998-08-01 00:00:00
abstract::Our recommendations for the evaluation of the patient with suspected cardiogenic syncope are as follows: An initial thorough history and physical examination of the patient will suggest the diagnosis of cardiogenic syncope in at least 50 per cent of patients. A sudden occurrence of syncope, or "drop attack", is most s...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:
更新日期:1986-08-01 00:00:00
abstract::In this series of clinical vignettes, the authors have attempted to provide a "feel" for the varied causes of syncope. The neurologist should be able to diagnose most causes of syncope using a simple algorithmic approach. Initial evaluation includes detailed clinical history, physical examination, and 12-lead ECG. Fol...
journal_title:Neurologic clinics
pub_type: 杂志文章
doi:10.1016/j.ncl.2006.02.002
更新日期:2006-05-01 00:00:00
abstract::Reye syndrome has emerged as the quintessential example of an acute metabolic encephalopathy. The clinical presentation is quite stereotyped in most instances permitting rapid, accurate diagnosis and early therapeutic intervention. Intoxications and certain inborn metabolic errors may mimic Reye syndrome. All patients...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:
更新日期:1985-02-01 00:00:00
abstract::This article discusses antibodies associated with immune-mediated myasthenia gravis and the pathologic action of these antibodies at the neuromuscular junctions of skeletal muscle. To explain how these antibodies act, we consider the physiology of neuromuscular transmission with emphasis on 4 features: the structure o...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2018.01.001
更新日期:2018-05-01 00:00:00
abstract::A recently described syndrome, disabling positional vertigo (DPV), is characterized by persistent and progressive vertigo that is always associated with nausea and occasionally with vomiting; symptoms are made worse with changes in head position and are lessened with bedrest. Patients with DPV have abnormal results on...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:
更新日期:1990-05-01 00:00:00
abstract::The evaluation, diagnosis, and treatment of childhood epilepsy or isolated seizures deserve special consideration. Whenever possible, a working diagnosis of an epilepsy syndrome should be implemented early in the course of evaluation to help plan the necessary investigations and acute and chronic treatment. The plan w...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:
更新日期:1993-11-01 00:00:00
abstract::Legal issues must be considered in caring for patients with epilepsy. Doctors caring for people with epilepsy may be legally involved in three primary ways: as the agent of social control, as patient advocate, and as the target of liability or malpractice suits. This article examines these factors and the implications...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:
更新日期:1994-02-01 00:00:00