Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fifteen children, aged 0.3 to 10.5 years (mean 3.8 years) after repair of coarctation of the aorta, underwent cerebral arteriography as part of postoperative catheterization. Four manifested central nervous system symptoms postoperative catheterization. Four manifested central nervous system symptoms postoperatively: Two had persistent headaches, one had exercise-induced hemianopsia and one had major motor seizures. All four had greater blood pressure in the right arm than in the left and evidence of subclavian steal, with retrograde filling of the left vertebral and left subclavian arteries on selective right vertebral arteriography. Ligation of the left vertebral artery in three patients and left subclavian graft arterioplasty in one resulted in disappearance of symptoms. None of the 11 asymptomatic patients manifested cerebrovascular anomalies, and no patient in the series had berry aneurysm. This study suggests that patients with central nervous system symptoms and a disparity of blood pressure in the arms after surgery for coarctation of the aorta should be evaluated carefully to exclude subclavian steal as the cause of the symptoms.
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PMID:Cerebrovascular abnormalities in postoperative coarctation of aorta. Four cases demonstrating left subclavian steal on aortography. 67 42

Orofaciodigital syndrome type I (OFD I) includes striking orodental, facial, digital, renal, and central nervous system (CNS) abnormalities. Frequently associated with mental retardation, OFD I is inherited as an X-linked dominant trait, lethal in males. Here, we report the variable expressivity of OFD I in 6 black U.S. females and review findings in 2 previously reported black patients. Only these 8 of over 160 reported cases involve blacks. Abnormalities observed in black patients are similar to those observed in whites, but with specific differences. Only 25% of the blacks had cleft palate and none was observed with midline cleft of the upper lip. Among whites, 80% have cleft palate and 45% midline cleft of the upper lip. These findings suggest that racial genetic factors may protect lip and palate development in blacks, even in the presence of the OFD I gene. CNS abnormalities, including agenesis of the corpus callosum, hydrocephaly, cystic brain lesions, seizures, and mental retardation, were present in 50% of our the cases. This figure is greater than previously reported. Polycystic kidneys were present in 3 of our patients. Including a previously reported patient, 50% of the black OFD I patients show polycystic kidneys. Hyperplastic and supernumerary frenula, with or without brachydactyly, have been shown to be strong diagnostic criteria in our patients. New findings reported here include intracranial berry aneurysm, periodontal disease, and lip pits. Clinicians treating these patients should be aware of the pleiotropic manifestations of the syndrome, which may include renal and CNS anomalies. Ultrasonic and computed tomography scan studies are indicated in patients diagnosed with OFD I.
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PMID:Variability of expression of the orofaciodigital syndrome type I in black females: six cases. 206 2

We obtained CTs in 259 patients with a first alcohol-related convulsion. Each subject had generalized convulsions, recent abstinence from alcohol abuse, and no obvious etiology for seizures other than alcohol withdrawal. Patients with only focal seizures, major head injury, coma, or a severe toxic-metabolic disorder were excluded. We recorded history and signs of minor head injury, presence of headache, level of consciousness, neurologic signs, routine medical examination findings, and subsequent clinical course. Sixteen patients (6.2%) had intracranial lesions on CT. Eight had subdural hematomas or hygromas, two had vascular malformations, two had neurocysticercosis, and one each showed a Berry aneurysm, possible tumor, skull fracture with subarachnoid hemorrhage, and probable cerebral infarction. In ten cases (3.9%), clinical management was altered because of the CT result. History or signs of minor head trauma, headache, level of consciousness, or focal neurologic signs did not significantly correlate with CT abnormality.
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PMID:Intracranial lesions shown by CT scans in 259 cases of first alcohol-related seizures. 341 99