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)

Subacute necrotizing encephalomyelopathy (Leigh's syndrome) is a rare neurodegenerative disease in the adult. The precise metabolic defect is unknown, but abnormalities of a mitochondrial enzyme system related to cytochrome-c oxidase or pyruvate dehydrogenase are described. The clinical picture usually consists of an altered breathing pattern, oculomotor paralysis, other signs of cranial nerve dysfunction, ataxia, myoclonic jerks, nystagmus, generalized seizures, optic atrophy and demyelinating peripheral neuropathy. Hypopnea leads to CO2-retention with consecutive loss of consciousness demanding mechanical ventilation. Respiratory failure is the most frequent cause of death. Here we describe two patients with adult onset Leigh's syndrome and we discuss the longterm treatment strategies including vitamin B1 and CPAP mask.
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PMID:[Adult Leigh syndrome. A rare differential diagnosis of central respiratory insufficiency]. 771 56

Deficiency of cytochrome c oxidase activity was established in a girl born to consanguineous parents. She showed symptoms of dysmaturity, generalized hypotonia, myoclonic seizures and progressive respiratory failure, leading to death on the seventh day of life. Structural abnormalities of the central nervous system consisted of severe cerebellar hypoplasia and optic nerve atrophy. Biochemical analysis of a muscle biopsy specimen demonstrated deficiency of cytochrome c oxidase activity. Cultured fibroblasts from this patient also showed a selective decrease in the activity of cytochrome c oxidase, excluding a muscle-specific type of deficiency. Further investigations in cultured fibroblasts revealed that synthesis, assembly and stability of both the mitochondrial and the nuclear subunits of the enzyme were entirely normal. The steady-state concentration of cytochrome c oxidase in the fibroblasts of the patient was also normal, suggesting that the kinetic properties of the enzyme were altered. Analysis of the kinetic parameters of cytochrome c oxidase demonstrated an aberrant interaction between cytochrome c oxidase and its substrate, cytochrome c, most likely because of a mutation in one of the nuclear subunits of the enzyme.
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PMID:Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy. 772 43

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

We describe the clinical presentation, pulmonary function tests, chest radiograph, and computed tomography findings, response to hormonal treatment, and duration of survival of nine patients with pulmonary involvement in tuberous sclerosis complex with follow-up over an average of 17 years (range, 1 to 35 years) since diagnosis. All patients were female, and the average age at onset of symptoms was 16 years (range, 3 months to 39 years); pulmonary symptoms did not develop until an average age of 33 years (range, 22 to 46 years). There was an average delay of 8 years before the correct diagnosis was made. The most common presenting clinical features were seizures, pneumothorax, bleeding into a renal angiomyolipoma, dyspnea, and typical skin changes. Pulmonary function tests commonly demonstrated obstruction to airflow and reduced single-breath diffusing capacity. Chest radiograph and computed tomography characteristically demonstrated diffuse interstitial infiltrates with cystic changes. Two asymptomatic patients with mild pulmonary involvement have remained in stable condition without hormonal therapy. The remaining seven patients had moderate to severe airflow obstruction; of these, five underwent hormonal therapy. Three patients had a clinical response to treatment. Two patients who did not receive hormonal treatment died of progressive respiratory failure. Most patients with pulmonary involvement in tuberous sclerosis have a slowly declining clinical course. Although the available data are limited, they suggest that a trial of hormonal therapy is recommended both for symptomatic patients and for those with declining pulmonary function. Tuberous sclerosis complex should be suspected in all patients with the diagnosis of lymphangioleiomyomatosis.
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PMID:Pulmonary tuberous sclerosis. 781 75

Use of extracorporeal membrane oxygenation for treatment of respiratory failure caused by sepsis is controversial because of concerns over survival benefit and hemorrhage-related complications. To evaluate the impact of the primary diagnosis of sepsis on outcome, we reviewed data from 6853 neonates in the Extracorporeal Life Support Organization Registry and defined two groups: group 1 (n = 1060), all patients undergoing extracorporeal membrane oxygenation with a primary diagnosis of sepsis; group 2 (n = 5793), those with any other primary diagnosis. A multivariate logistic regression analysis that considered 15 variables present before extracorporeal membrane oxygenation (including age, sex, birth weight, prior cardiopulmonary arrest, arterial blood gas results, and ventilator settings) was used to compare outcomes between groups. Survival was not different between the two groups (77%, group 1; 82%, group 2; p = 0.2480), although lung recovery was less frequent in the patients with sepsis (p = 0.0185). Group 1 had a higher incidence of complications including seizures (odds ratio 1.446, p = 0.0346), cerebral infarct or hemorrhage (2.310, p = 0.0001), need for dialysis (1.478, p = 0.0131), hypernatremia (2.089, p = 0.0019), hyperbilirubinemia (2.423, p = 0.0001), and dobutamine use (1.918, p = 0.0001). Neonates with sepsis are more likely to have neurologic, renal, and metabolic complications from extracorporeal membrane oxygenation but may still achieve a survival benefit equivalent to those without sepsis. From these data, extracorporeal membrane oxygenation should not be withheld from neonates solely on the basis of sepsis. Rather, management strategies should focus on limiting the incidence or severity of the common complications.
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PMID:Results of extracorporeal membrane oxygenation in neonates with sepsis. The Extracorporeal Life Support Organization experience. 787 2

We studied the prognostic significance of electroencephalograms recorded serially at 2- to 4-day intervals during the acute neonatal course of 119 near-term infants with severe respiratory failure treated by venoarterial extracorporeal membrane oxygenation (ECMO). A poor prognosis was defined as early death (n = 27), an abnormally low developmental assessment score (n = 14), or cerebral palsy (n = 14) at 12 to 45 months of age. The only electroencephalographic abnormalities that were significantly related to a poor prognosis were burst suppression (B-S) and electrographic seizure (ES). The 30 infants with two or more recordings of B-S or ES, when compared with the 58 neonates without such electroencephalographic abnormalities, had an odds ratio for a poor prognosis of 6.6 (95% confidence limits, 2.2 to 20.2). The 31 infants with a single ES or B-S recording did not have a significantly increased risk for a poor prognosis. Cardiopulmonary resuscitation immediately before ECMO (n = 8) and the lowest systolic blood pressure before or during ECMO were significantly related to the occurrence of ES or B-S recordings. There was no significant predilection of ES for either cerebral hemisphere. We conclude that in near-term neonates with respiratory failure, serial electroencephalographic recordings are of predictive value, and may facilitate clinical care including the decision to initiate or to continue ECMO.
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PMID:Predictive value of neonatal electroencephalograms before and during extracorporeal membrane oxygenation. 799 72

Organophosphate insecticides may cause serious poisoning either accidentally or by deliberate ingestion. Toxic symptoms are produced by acetylcholine accumulation at cholinergic receptors. Diagnosis is based on history of exposure or ingestion, symptoms and signs of cholinergic overactivity and a decrease in serum pseudocholinesterase levels. Following diagnosis, grading of disease severity may identify patients with serious poisoning who should receive treatment in intensive care using adequate doses of anticholinergic drugs. Complications, particularly ventricular arrhythmias, central nervous system depression or seizures, and respiratory failure, should be anticipated and treated. Relapse may occur after seemingly successful treatment. Public education with regard to symptoms of toxicity must be encouraged, and physicians must provide skilled treatment for a potentially lethal condition.
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PMID:Organophosphate and carbamate poisoning. 801 98

Since 1973, 7667 neonates have been treated with extracorporeal membrane oxygenation for severe respiratory failure and their cases reported to the Extracorporeal Life Support Organization Registry. The overall survival was 81% in these neonates, who were thought to have a survival of 20% without extracorporeal membrane oxygenation. A total of 4322 mechanical complications (0.56 +/- 0.84 per case) and 13,827 patient complications (1.80 +/- 2.12 per case) were reported overall. The most common mechanical complications included clots in the circuit (19%), cannula placement (9%), oxygenator failure (4%), and others (9%). Common patient complications included cardiopulmonary (43%), neurologic (35%), bleeding (35%), metabolic (32%), renal (25%), and renal (25%), and infectious (9%). From the initial experience to 1988 the average number of mechanical complications per case was 0.27 per case and this significantly increased during 1990 to 1992 to 0.75 per case (p < 0.05). Likewise, from 1973-1985 to 1988 the average patient complications per case were 1.44 per case and this significantly increased during 1990 to 1992 to 2.10 per case. During the same periods, patient survival significantly decreased from 84% (1973-1985 to 1988, n = 2463) to 80% (1990 to 1992, n = 4005). Venovenous double-lumen single cannula extracorporeal membrane oxygenation had a higher survival than venoarterial extracorporeal membrane oxygenation (91% versus 81%) and a lower rate of major neurologic complications. The incidence and survival with seizures (6% and 89% venovenous versus 13% and 61% venoarterial) or cerebral infarction (9% and 69% venovenous versus 14% and 46% venoarterial) was significantly lower with the venovenous method and appeared to have a substantial impact on overall survival. The correlation of patient complication rate and total complication rate with survival was highly significant, however, causality cannot be established. Explanations for the increase in complications, relative to a decrease in survival, despite a growing nationwide experience include (1) increased complexity of cases as many programs expand entry criteria (more premature infants, infants with grade 1 or 2 intracranial hemorrhage, and complex congenital diaphragmatic hernia), (2) a growing number of programs with fewer cases per program, yet greater accessibility, (3) less reluctance to report complications encountered during extracorporeal membrane oxygenation as group experience grows, and (4) changes in the Extracorporeal Life Support Organization data form to be more inclusive of more minor complications.
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PMID:Complications of neonatal extracorporeal membrane oxygenation. Collective experience from the Extracorporeal Life Support Organization. 812 13

A case of malignant lymphoma presented with various neuropsychological symptoms which made it difficult to achieve the diagnosis and therapy. A 9-year-old boy was referred to our hospital with complaints of psychological symptoms, impairment of consciousness and generalized convulsive seizures. A lumbar puncture revealed infiltration of numerous blasts which were positive for immature B cell markers. CT scan showed a mass in the right ethmoidal sinus, but no space occupying lesion in the brain. The tumor cells in the right ethmoidal sinus had the same phenotypes as those in the CSF. Thus a diagnosis of non-Hodgkin's lymphoma, developing in the right ethmoidal sinus and infiltrating into the central nervous system, was established. The blast cells in the liquor and the tumor of the right ethmoidal sinus disappeared after induction of systemic chemotherapy, irradiation and intrathecal chemotherapy. However, intracranial bleeding occurred during the chemotherapy. He died of respiratory failure 10 months after the start of treatment.
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PMID:[Malignant lymphoma with various neuropsychological symptoms]. 813 3

The mechanism of death following exposure to anticholinesterases, such as the highly toxic nerve agents soman and VX, and other organophosphate anticholinesterases such as the insecticide parathion, remains unclear, although evidence from nerve agent research suggests that death occurs by an atropine blockable respiratory failure mediated through mechanisms involving the central nervous system. It is proposed that REM sleep pathways, which can be triggered by acetylcholine accumulation in the pontomedullar reticular field, mediate respiratory failure through the inhibition of respiratory muscles. Cholinergic activation of REM sleep activities may also account for other physiological and behavioural effects that follow exposure to nerve agents. These include forebrain activation, which is associated with EEG desynchronization and seizures, locomotor depression with concomitant loss of righting reflex, and limb jerks and extensions. Pharmacologic evidence for atropine and clonidine protection against soman intoxication effects is entirely consistent with a scenario of cholinergic receptor activation in the pontomedullar reticular field.
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PMID:REM sleep pathways and anticholinesterase intoxication: a mechanism for nerve agent-induced, central respiratory failure. 823 94


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