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X-ray of the hands showing brown tumors in a patient with hyperparathyroidism. (Contributed by Ahmed Haroud. Courtesy of Radiopaedia.org and Wikipedia.)
Neuropharmacology & Neurotherapeutics
Jul. 20, 2021
Stroke & Vascular Disorders
Aortic atheroma is an important risk factor for ischemic stroke. In particular, large and complex aortic arch atheroma has been associated with an increased
Jul. 09, 2018
Hepatic encephalopathy is a potentially reversible metabolic disturbance of the brain in liver disease. The most common cause is cirrhosis of the liver, but other hepatotoxic agents may lead to hepatic encephalopathy. Manifestations range from minimal cognitive deficits to stupor and coma. Most of the cases can be managed medically, but liver transplant is required in some cases.
Jul. 03, 2021
Epilepsy & Seizures
Progressive myoclonic epilepsy type 1 (EPM1) is a progressive myoclonus epilepsy caused by pathogenic, autosomal recessive variants in the cystatin B (CSTB) gene mapped to chromosome 21q22.3. It manifests with action and stimulus-sensitive myoclonus, generalized tonic-clonic seizures, mild and slowly progressive cerebellar ataxia, and cognitive deficits. Diagnosis can be confirmed by appropriate molecular genetic testing.
Feb. 23, 2021
Kearns-Sayre syndrome is a multisystemic disorder defined by the triad of chronic progressive external ophthalmoplegia, retinitis pigmentosa, and onset before 20 years of age. It is usually a result of single, large-scale deletion mutations of mitochondrial DNA. Progressive cardiac conduction block is common and can be fatal; therefore, timely placement of a cardiac pacemaker can extend lifespan.
Nov. 12, 2020
Lacosamide (trade name Vimpat) is used as an antiepileptic drug for the adjunctive treatment of partial-onset seizures, and is also being developed for the treatment of diabetic neuropathic pain. It is the only antiepileptic/analgesic drug that selectively enhances slow inactivation of voltage-gated sodium channels but without apparent interaction with fast inactivation gating.
Sep. 14, 2020
Neuro-Ophthalmology & Neuro-Otology
Oct. 21, 2020
Childhood Degenerative & Metabolic Disorders
Myoclonus epilepsy with ragged-red fibers (MERRF) is a multisystem mitochondrial disorder defined by myoclonus, generalized epilepsy, ataxia, and myopathy with ragged-red fibers detected in muscle biopsy. MERRF patients often have sensorineural hearing loss, cognitive impairment, multiple lipomatosis, peripheral neuropathy, exercise intolerance, ptosis, ophthalmoparesis, optic atrophy, cardiomyopathy, muscle wasting, respiratory impairment, diabetes, muscle pain, tremor, and migraine.
Jun. 10, 2021