Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Emery-Dreifuss muscular dystrophy (EDMD) is a muscular disorder characterized by 1) early contracture of the elbows. Achilles tendons and post-cervical muscles, 2) slowly progressive muscle wasting and weakness with a humeroperoneal distribution, and 3) life-threatening cardiomyopathy with conduction block. Most of families with EDMD show X-linked recessive inheritance with mutations in the STA gene on chromosome Xq28, which encodes a protein named emerin. A rare autosomal dominant form of EDMD (AD-EDMD) is caused by mutations in lamin A/C gene (LMNA) on chromosome 1q21. Both emerin and lamin A/C are located in the inner surface membrane of the nucleus. A 49-year-old woman was skinny and slow runner from childhood and suspected as having a certain muscular disorder. At 35 years, she was found to have the second degree atrioventricular block. At 45 years, she was admitted to a hospital for right-side hemiplegia after cerebral infarction. Cardiac involvement was also observed including high degree atrioventricular block with chronic atrial fibrillation and frequent paroxysmal ventricular contraction on the electrocardiogram. At 49 years, she was referred to our hospital for further evaluation. She had possible dilated cardiomyopathy with conduction block. She also had muscular atrophy and weakness in all extremities, predominantly in the right-side, and contracture of bilateral Achilles tendon, knee and elbow joints, and postcervical muscles. Biopsied skeletal muscle and electromyogram showed myopathic changes. Since a novel point mutation of Ser303Pro was found in exon 5 of LMNA gene, she was diagnosed as having AD-EDMD and had a permanent pacemaker implantation. Her daughter also had some abnormalities on electrocardiogram. This is the first Japanese case of AD-EDMD. Amiodaron was effective for non-sustained ventricular tachycardia. Early diagnosis and following cardiological examinations and treatments are important and necessary to improve the prognosis of the patients with EDMD.
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PMID:[The first Japanese case of autosomal dominant Emery-Dreifuss muscular dystrophy with a novel mutation in the lamin A/C gene]. 1242 64

Cerebral hyperperfusion syndrome is a rare but well-described complication following carotid endarterectomy or stenting. Clinical signs are ipsilateral, throbbing, unilateral headache with nausea or vomiting, seizures, and neurological deficits, with or without intracerebral abnormalities on CT scan, such as brain edema or intracerebral hemorrhage. Subarachnoidal hemorrhage is rarely described especially if it occurs isolated. We describe a 74-year-old man with a history of high blood pressure, hypercholesterolemia, atrioventricular block with pacemaker, and ischemic cardiopathy with coronary bypass. He underwent right carotid endarterectomy for a 90% NASCET asymptomatic stenosis. Four days after surgery, he complained of unusual headaches with right, throbbing hemicrania. Nine days after surgery, he presented with left hemiplegia and a partial motor seizure. He had fluctuant altered consciousness, left hemiplegia, and left visual and sensory neglect. Brain CT showed right frontal subarachnoidal hemorrhage without parenchymal bleeding. Cerebral angiography found no cerebral aneurysm, no vascular malformation, but a vasospasm of the left middle cerebral artery. Transcranial Doppler confirmed this vasospasm. Evolution was favorable with no recurrence of seizures but with an improvement of the neurological deficits and vasospasm. Physicians should bear in mind this very rare complication of endarterectomy and immediately perform neuroimaging in case of unusual headache following endarterectomy or angioplasty.
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PMID:Isolated Subarachnoidal Hemorrhage following Carotid Endarterectomy. 2067 62