Epidemiology and public health and prevention
Epidemiology and public health Definition of traumatic brain injury The Centers for Disease Control and Prevention (CDC) defines a traumatic brain injury (TBI) as an “injury to the head from…
Brain death criteria
With the advancement of positive-pressure ventilation in the 1950s, patients who sustained a catastrophic brain injury could be supported in hospitals after cessation of brain function. In 1968, an ad…
TBI by pattern: Penetrating, nonpenetrating, and blast injury
Traumatic brain injuries (TBIs) are sustained through a variety of mechanisms. The three broad classifications are discussed in Table 4.1 . TABLE 4.1 Mechanisms of Traumatic Brain Injury Penetrating Brain…
Mild, moderate, and severe traumatic brain injury
Traumatic brain injury (TBI) is defined by the Centers for Disease Control and Prevention as a disruption of normal brain function that can be caused by an external force, such…
Chapter 32 – Novel Therapeutic Approaches to Metabolic Movement Disorders
Abstract Movement disorders are common symptoms in patients with inborn errors of metabolism (IEMs), and have a serious impact on their quality of life. Treatment of the movement disorder is…
Chapter 31 – Deep Brain Stimulation for Metabolic Movement Disorders
Abstract As pharmacological management is dissatisfying in many metabolic movement disorders, neurosurgical procedures have been attempted to alleviate the most disabling symptoms, which are often severe dystonia, chorea, tremor, and…
Chapter 30 – Metabolic Movement Disorders in the Era of Next-Generation Sequencing
Abstract Suspecting a genetic etiology for movement disorders of childhood often requires a high index of suspicion due to the heterogenous phenotypic expression, variable penetrance, and the influence of epigenetic…
Chapter 29 – Hereditary Spastic Paraplegia-Related Inborn Errors of Metabolism
Abstract Hereditary spastic paraplegias (HSPs) represent a large and heterogeneous group of inherited disorders, presenting with a phenotype that is predominated by lower limb spasticity and weakness, often accompanied by…
Chapter 27 – Purine Metabolism Defects: The Movement Disorder of Lesch–Nyhan Disease
Abstract Purine metabolism encompasses the metabolic pathways involved in the synthesis, interconversion, salvage, and degradation of purine-based nucleosides and nucleotides. These metabolic pathways are involved in many essential cellular processes,…
Chapter 28 – Disorders of Creatine Metabolism: Creatine Deficiency Syndromes and Movement Disorders
Abstract Creatine is synthetized from two amino acids, arginine and glycine, in the kidney, liver, and pancreas. Two enzymes that are involved in the synthesis of creatine are L-arginine:glycine amidinotransferase…
