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Skin biopsy cryosection, stained with PGP 9.5 stain for epidermal nerve fibers. Image demonstrates normal intraepidermal nerve fiber staining. (Courtesy of Kurenai Tanji MD.)
Neuropharmacology & Neurotherapeutics
Mar. 20, 2021
Copper deficiency myeloneuropathy may have a subacute onset, presenting with a spastic gait and prominent sensory ataxia due to dorsal column dysfunction. It is the most common neurologic manifestation of acquired copper deficiency.
Feb. 26, 2021
Stroke & Vascular Disorders
Genetic and acquired hypercoagulable states, such as factor V Leiden deficiency and antiphospholipid syndrome, are associated with cerebrovascular events, including cerebral venous thrombosis and ischemic stroke. The clinical manifestations of thrombophilic patients can be due to either venous thrombosis or (rarely) arterial thrombosis. The most common presentation of venous thrombosis is deep vein thrombosis of the lower extremity with or without pulmonary embolism.
Aug. 27, 2021
Headache & Pain
Migraine aura without headache consists of visual, sensory, or speech symptoms such as photopsia, teichopsia, scotoma, visual distortion, numbness, weakness, or difficulty hearing or speaking. Cortical spreading depression, glutamatergic neurotransmission, channelopathies, neuronal-glial gap-junction communications, endothelial disfunctions, and microembolization may play a role in pathogenesis.
Jan. 05, 2020
Triptans, selective serotonin receptor (5-HT) agonists, are used in the treatment of acute migraine attacks as well as nonmigraine headaches. Their effect is related to their multiple mechanisms of action at sites implicated in the pathophysiology of migraine, eg, vasoconstriction.
Nov. 14, 2020
Childhood Degenerative & Metabolic Disorders
Ornithine transcarbamylase deficiency (OTCD) is the most common inherited urea cycle disorder and the only one to be transmitted as an X-linked trait.
Aug. 17, 2021
Syndrome of inappropriate secretion of antidiuretic hormone (SIADH) is a leading cause of euvolemic hyponatremia in hospitalized patients. SIADH can only be diagnosed after excluding other forms of hyponatremia, adrenal insufficiency, and hypothyroidism. The most common etiologies of SIADH include malignancy, medications, CNS disorders, and pulmonary disorders.
Aug. 07, 2021
Motor and multifocal motor neuropathy is characterized by weakness with muscle wasting and fasciculations, and may resemble motor neuron disease. Sensory symptoms are notably absent, with only the occasional complaint of paresthesias. Motor weakness typically occurs in the distribution of individual motor nerves rather than the segmental distribution seen in amyotrophic lateral sclerosis. Compared with amyotrophic lateral sclerosis, motor neuropathies have a favorable prognosis and a prolonged course.
Oct. 24, 2020