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)

A 23-year-old Japanese man presented with status epilepticus unresponsive to medication, respiratory failure, rhabdomyolysis, myoglobinuria, and irreversible renal failure. Muscle biopsy revealed type 1 fiber atrophy and an increased type 2C fibers (7%). His carnitine palmitoyltransferase (CPT) I and II activities were 0.06 and 0.12 nmol/min/mg protein, as compared with a mean value of 0.22 +/- 0.14 and 0.27 +/- 0.07 nmol/min/mg protein, respectively, in control subjects. This appears to be the first report of this disorder presenting as status epilepticus. Metabolic encephalopathy due to CPT deficiency may have presented as status epilepticus. Seizures in the present case may have resulted from the functional disorder of brain due to CPT deficiency.
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PMID:Atypical presentation of carnitine palmitoyltransferase (CPT) deficiency as status epilepticus. 775 48

Renal angiomyolipoma is common in the tuberous sclerosis complex (TSC), the classic features of which are facial angiofibroma, seizures, and mental retardation. We report a family with three affected members demonstrating the wide spectrum of TSC-associated lesions ranging from asymptomatic findings to life-threatening complications. The predominant symptoms of the index patient were hypertension and mild renal insufficiency at age 48, resulting in end-stage renal failure at age 63 due to giant bilateral angiomyolipoma of the kidneys. The two TSC-affected siblings had died years previously, one from pulmonary lymphangioleiomyomatosis and the other during an epileptic state; the latter had situs inversus totalis as another remarkable finding. The diagnosis of TSC may be overlooked if CNS symptoms are absent and if cutaneous lesions are masked by cosmetic procedures, as occurred in the index case. Chronic renal failure due to angiomyolipoma is not widely known to clinical nephrologists, but develops in approximately 15% of TSC patients. Displacement of functional renal parenchyma by abnormal tissue appears to be the major pathogenetic mechanism leading to end-stage renal failure. Angiomyolipomas can be diagnosed from this characteristic sonographic pattern and the demonstration of fatty tissue in CT or MRI. Multiple renal cysts are also common in TSC. Therefore TSC should be considered in the differential diagnosis of polycystic kidney disease.
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PMID:Tuberous sclerosis complex with end-stage renal failure. 779 29

Seizures are a recognized complication of human immunodeficiency virus (HIV)-type-1 infection. CNS disease processes in these patients include encephalitis, focal brain lesions, and meningitis. Metabolic causes of seizures have received little attention. In a retrospective study, we selected 68 HIV-seropositive patients with new-onset seizures and information available for specified metabolic factors on the day of the first seizure. We sought an association of metabolic abnormalities with convulsive status epilepticus (CSE), which was the initial seizure in 12 patients, predominantly intravenous (i.v.) drug users. HIV-seropositive patients with new-onset seizures and hypomagnesemia or renal failure appeared to be at increased risk for CSE. All HIV-seropositive patients with new-onset seizures should undergo metabolic screening including renal function and serum magnesium levels.
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PMID:Metabolic abnormalities and new-onset seizures in human immunodeficiency virus-seropositive patients. 782 Dec 71

Patients requiring creation of an arteriovenous (AV) fistula for long-term dialysis access have a high incidence of cardiovascular risk factors, as well as immunosuppression, neuropathy, and platelet dysfunction related to renal failure. However, the morbidity and mortality of AV fistula creation, and the effect of anesthetic technique on outcome, have not been reported. We therefore retrospectively studied all patients (n = 469) having an AV fistula placed at the Mayo Clinic between 1986 and 1991. Preoperative variables studied were age (mean 63 +/- 14 yr), sex (60% male), diabetes mellitus (26% incidence), hypertension (92%), the presence of a previous AV fistula (31%), coronary artery disease (86%), and previous myocardial infarction (MI) (42%). Outcome variables studied were fistula failure prior to first attempted dialysis (8.7% incidence), infection (3.4%), neuropathy (1.9%), seizure (0.2%), nonfatal cardiac event (MI or arrest) (1.5%), and fatal cardiac event (2.1%). Associations of preoperative factors, outcomes, and anesthetic technique were analyzed by analysis of variance and Wilcoxon rank sum analysis for age, and by exact conditional frequency table analysis for all other factors. A previous AV fistula was associated with infection (P < 0.002) and nonfatal cardiac events (P < 0.003). Increased age (P < 0.025) and previous MI (P < 0.01) were associated with adverse cardiac outcomes. Neither local anesthesia, brachial plexus block, nor general anesthesia were significantly associated with an increased frequency of any adverse outcome. The comparison of general with local and brachial plexus anesthetics was limited by low statistical power.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Risk factors in patients having surgery to create an arteriovenous fistula. 794 77

We report a 46-year-old man with bacterial endocarditis and cardiac failure, who developed status epileptics. The patient was apparently well until July of 1991 when there was a gradual onset of fever and general fatigue. He was hospitalized to the cardiology service of our hospital where diagnosis of bacterial endocarditis and aortic insufficiency was made. On October 9, 1991, he suddenly developed cardiogenic shock, and emergency replacement of the aortic valve was made; at the operation, the main trunk of the left coronary artery showed embolic occlusion, and the myocardial movement was markedly diminished; serum creatine kinase was 3.150 IU/l. His cardiac failure did not resolve, and renal failure developed in December 1991, for which peritoneal dialysis was necessary. On February 2, 1992, he suddenly developed a clonic seizure which started from his face with a transient post-ictal left hemiparesis; a cranial CT scan was unremarkable. He was treated with phenytoin and glycerol, however, he developed status epileptics on February 3; he developed cardiac arrest after the injection of phenytoin 750 mg. He was resuscitated, however, his status did not resolve. Neurological consultation was asked on February 4. On physical examination, his blood pressure was 80/40 mmHg heart rate 77/min and regular, and body temperature 39.1 degrees C. The palpebral conjunctiva were slightly anemic, however, the bulbar conjunctiva were not icteric. No cervical adenopathy was noted. Glade II systolic murmur was heard in the apex; the lungs were clear. The abdomen was flat and soft without organomegaly. No edema was present in the legs. On neurologic examination, he was comatose without response to painful stimuli. He repeatedly had convulsion lasting for 30 seconds every 2 to 3 minutes; his convulsions started with the conjugate deviation of the eyes to the left followed by turning of the head toward left, and then clonic convulsions started in this left upper limb extending to other extremities. The optic fundi were unable to visualize because of corneal clouding; light reflex was sluggish on the right side; no oculocephalic response was elicited; corneal reflex was also lost bilaterally. Extremities were hypotonic, and no automatic movement was seen. The triceps brachii reflex was diminished, but all the other deep reflexes were lost; no plantar response was elicited. Meningeal sign was absent. He was treated with intravenous diazepam; the interval of convulsions prolonged, however, blood pressure dropped to 40 to 40 mmHg. On February 4, intravenous thiopental anesthesia was instituted, and assisted respiration was started.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[A 46-year-old man with cardiac failure and statues epileptics]. 794 26

Hypercalcemic crisis due to hyperparathyroidism which is resistant to medical treatment, is a rare clinical condition which requires prompt surgical intervention. This 78 year-old woman was hospitalized because of hypercalcemic crisis. Conservative treatment including hemodialysis was not successful. A progressive mental disorder was noted. The maximum preoperative calcium value was 18.5 mg.dl-1, and an emergency surgery was scheduled. Anesthetic management for the hypercalcemic state includes (1) good hydration, (2) protection of the cardiac function, and (3) consideration of specific pathological features like renal failure. Balanced anesthesia with analgesics, vecuronium bromide and calcium blocker (diltiazem 0.5 microgram.kg-1.min-1) had been advocated to maintain the stable circulatory state. Postoperatively, this patient went into hypocalcemic seizures and treatment was necessary for a long period of time.
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PMID:[An emergency operation for a patient in hypercalcemic crisis--a case report]. 801 71

Phenytoin is frequently used to treat seizure episodes in critically ill patients. Some of these patients have acute renal failure, requiring continuous hemofiltration to help maintain fluid and solute balance. We evaluated the removal of phenytoin in patients who received the drug while undergoing continuous hemofiltration treatment. Arterial and ultrafiltrate sample pairs were collected for phenytoin concentration determination. The ultrafiltrate drug concentrations were almost identical to the free serum phenytoin concentrations. Thus the ultrafiltrate/arterial drug concentration ratios resembled the percentages of serum free drug. Between 0.32 and 0.78 mg of phenytoin/h was removed by hemofiltration. The magnitude of hemofiltration phenytoin removal was related to the free drug concentration, total serum drug concentration, and ultrafiltration flow rate. When the ultrafiltration flow rate was low, the amount of phenytoin removed by hemofiltration was small relative to the usual daily dose. However, in patients with renal failure in whom serum phenytoin protein binding is substantially reduced, continuous hemofiltration at a high ultrafiltration rate may remove a clinically significant amount of the drug. Higher daily doses of phenytoin may be needed to maintain the therapeutic effect. Serum drug concentration monitoring will be necessary to determine the optimal dosage regimen.
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PMID:Effect of continuous hemofiltration on phenytoin elimination. 816 Feb 56

Neurological complications in bone marrow transplant (BMT) patients include central nervous system (CNS) infection, seizure, cerebrovascular accidents, and CNS disease recurrence. The purpose of this study was to describe the pattern and distribution of CNS complications and responses during BMT and to describe the presentation and outcome of select neurological incidents. The records of 200 BMT patients undergoing transplantation in 1989 were randomly selected and comprise the sampling unit for this study. Generally, the peak occurrence of CNS complications was pretransplant through day 21 posttranplant. Neuropathy and somnolence occurred earliest, peaking on day -13 and -8 pretransplant, respectively; confusion or disorientation peaked around day 12 posttransplant. Fifteen patients (7.5%) experienced seizure or suspected seizure, principally of the tonic-clonic type. Fifty-two patients (26%) experienced coma or encephalopathy. Etiologies included respiratory compromise, renal failure, and hepatic dysfunction, often occurring simultaneously. Coma and encephalopathy were commonly associated with terminal events. Because nurses are often the first to identify sensory and perceptual alterations in BMT patients, these results may assist nurses in the early detection of CNS complications.
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PMID:Pattern of occurrence and clinical presentation of neurological complications in bone marrow transplant patients. 818 Sep 74

A 59-year-old woman with renal failure was admitted in a coma with seizures. Computerized tomography (CT) revealed a frontal mass in the right cerebral hemisphere and on day 12 new low density areas had appeared in both the right and left hemisphere. Blood cultures on day 13 grew Salmonella typhimurium, and the patient died the next day. An autopsy showed cerebral infarction with abscess formation. The elusive features of non-typhoid Salmonella infections make it advisable to obtain blood and faecal cultures from susceptible patients with fever or focal disorders of unknown aetiology.
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PMID:Cerebral Salmonella typhimurium abscess in a patient with a stroke. 822 31

Even a single honeybee sting can lead to anaphylaxis in a susceptible person, but severe reactions can result from multiple stings, particularly if stings are from the fast-spreading Africanized honeybees, sometimes called "killer" bees. Signs and symptoms of multiple stings may include urticaria, nausea, vomiting, diarrhea, hypotension, confusion, seizures, and renal failure. Treatment is entirely supportive and requires special attention to airway patency, blood pressure, and renal function. Patients with more than 50 stings are at a higher risk of toxicity. Stingers should be removed by scraping gently to prevent further venom injection. Smoke or aerosolized deet (diethyl-toluamide) may thwart attacking bees, but avoidance is the best line of defense.
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PMID:Invasion of the 'killer' bees. Separating fact from fiction. 834 28


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