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Apr. 07, 2020
Oct. 21, 2020
Childhood Degenerative & Metabolic Disorders
Citrullinemia is a term for 2 different inherited defects of the urea cycle: deficiency of the enzyme argininosuccinate synthetase (classic citrullinemia,
Aug. 06, 2021
Primary carnitine transporter deficiency is an autosomal recessive inherited disorder caused by a defect of the plasmalemmal high-affinity carnitine
Jun. 14, 2021
Neuro-Ophthalmology & Neuro-Otology
Alexia without agraphia is a dramatic disorder of higher visual function in which patients can still write but are unable to read. It may be either a disconnection syndrome or a selective word form visual agnosia. Alexia without agraphia is due to the language cortex being cut off from visual input and is usually associated with visual agnosia and prosopagnosia but may also occur in isolation.
Oct. 07, 2020
Neuropharmacology & Neurotherapeutics
High-dose intravenous immune globulin (IVIG) has been used for the treatment of autoimmune disorders since 1981, starting with idiopathic thrombocytopenic purpura. IVIG is a safe and effective therapy for Guillain-Barré syndrome, but some cases may not respond to it or may get worse. IVIG is the preferred first-line treatment for chronic inflammatory demyelinating polyradiculoneuropathy and an adjunctive therapy for myasthenia gravis where no other therapy is effective.
Mar. 08, 2021
Defecation and micturition syncopes are forms of the so-called situational syncopes, which occur immediately after precipitating situations, such as urination and defecation. There may be associated brief jerking or rhythmic movements, but there is no associated incontinence, tongue biting, or postictal state. Recovery usually occurs within seconds without vasomotor or other sequelae. Patients are amnestic for the period of lost consciousness.
Autoreactive antibodies against central or peripheral nervous system antigens may be useful for the diagnosis of several neurologic diseases. In paraneoplastic neurologic disorders, their detection can also help identify an associated cancer at a stage before it is clinically overt, potentially leading to early successful therapy. The sensitivity and specificity and the reliability of the commercially used techniques is important to evaluate in order to avoid useless tests.
Jan. 30, 2017