Biomarker definition Biomarkers are critical to understand disease pathophysiology, improve diagnostics, and select therapies. Biomarkers are used to determine the presence or absence of a disease, measure response to therapy,…
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…
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…
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…
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…
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…
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…
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…
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…
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,…
