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 female child suffering from intrauterine growth retardation was born by caesarean section at 32 weeks. In the immediate newborn period there was a metabolic acidosis but this resolved. Hypotonia, muscular weakness and poor respiratory effort were evident and the child died at 6 days of age. A previous male sibling had died at 3 months of age after similar symptoms with seizures and a dysmyelination disorder. Post-mortem examination of both children showed damage to the basal ganglia. Defects in the activities of the pyruvate dehydrogenase complex, cytochrome oxidase and succinate cytochrome c reductase were found in cultured skin fibroblasts. Similar defects were found in isolated muscle mitochondria but not in isolated liver mitochondria from the patient. Immunoblotting for cytochrome oxidase showed that the multienzyme complex was not assembled in muscle and skin fibroblast mitochondria, but was assembled in liver mitochondria. Similar results were obtained in cultured skin fibroblast mitochondria for complex I of the mitochondrial respiratory chain. This is the first occasion that multiple defects have been demonstrated both in tissue and in culture skin fibroblasts in mitochondrial respiratory chain complexes.
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PMID:Fatal combined defects in mitochondrial multienzyme complexes in two siblings. 132 97

We report the clinical, electroencephalographic, neurophysiologic, and neuroimaging findings in eight children with infant-onset progressive myoclonus epilepsy, all of whom had muscle biopsies performed as as part of the diagnostic evaluation. Each child had myoclonic seizures, generalized tonic-clonic seizures, and neurologic regression or marked developmental delay. Four children died before 3 years of age. Electroencephalograms in seven children showed an abnormally slow background with bilateral multifocal paroxysmal discharges but no burst suppression pattern or photoparoxysmal response. Muscle biopsy specimens were submitted for histopathology and respiratory-chain enzyme studies. Nonspecific abnormalities on light microscopy or electron microscopy were found in seven samples, including increased subsarcolemmal deposits of mitochondria or morphologic mitochondrial changes, but no ragged-red fibers were seen. Respiratory-chain enzyme studies were performed on five samples and in three children (all of whom had a history of elevated lactate in serum or cerebrospinal fluid), there were low levels of rotenone-sensitive reduced nicotinamide adenine dinucleotide (NADH) cytochrome c reductase characteristic of a defect in the complex I part of the respiratory-chain pathway. This study has shown that infant-onset progressive myoclonus epilepsy can be distinguished from other myoclonic epilepsy syndromes of infancy by clinical and electrographic features. Furthermore, respiratory-chain enzyme defects are a relatively common cause of infant-onset progressive myoclonus epilepsy. The absence of ragged-red fibers on muscle histopathology does not preclude a mitochondrial enzyme abnormality.
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PMID:Infant-onset progressive myoclonus epilepsy. 2198 53

A retrospective review of 114 solid organ donors over a 6-year period (1982-1987) was undertaken to identify problems in organ donor management and determine outcome of donated organs. Admission GCS was less than or equal to 4 in 84% of the donors. Complications included hypotension (81%), multiple transfusion requirements (63%), diabetes insipidus (53%), DIC (28%), arrhythmias (27%), cardiac arrest requiring CPR (25%), pulmonary edema (19%), hypoxia (11%), acidosis (11%), seizures (10%), and positive bacterial cultures (10%). Only 18% of organs were procured within 3 hours of brain death; 23% were procured more than 6 hours later. Six patients excluded from this study suffered cardiovascular collapse before their organs could be retrieved. From 114 organ donors, consent was obtained to procure 224 kidneys, 77 livers, 62 hearts, 35 pancreata, and ten heart-lung units. All 224 donated kidneys were procured and 202 were ultimately transplanted. Of 77 donated livers, 32 were procured; 31 transplanted. Of 62 donated hearts, 38 were procured; 29 transplanted and nine used for valves. Ten heart-lung units were donated; six were procured and transplanted. Of 35 donated pancreata, 11 were procured; only five were transplanted. Reasons for failure of donated organs to be procured or transplanted included abnormal organ characteristics, lack of compatible recipients, unavailability of surgical teams, organ injury during procurement, intraoperative arrest, and anatomic limitations precluding multiple organ procurement. This study identifies characteristics of organ donors and common organ-threatening complications. Rapid and continuing resuscitation of clinically brain dead trauma victims is mandatory.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Organ donor management and organ outcome: a 6-year review from a Level I trauma center. 235 1

Electromechanical dissociation (EMD) is the presenting rhythm in approximately 17% of all prehospital cardiorespiratory arrests. Yet, we know comparatively little about the demographic profile of these patients. The purpose of this study was to review historical and resuscitative parameters to help create a demographic profile. For a 6-year period of time from January 1st, 1980 to December 31st, 1985, 503 adult patients presented to a prehospital system in non-traumatic, nonpoisoned, cardiorespiratory arrest with an initial rhythm of electromechanical dissociation. The overall average response time was 6.1 +/- 3.2 min. Sixty percent of the patients were witnessed arrests and 65% had bystander initiated CPR. Forty-six percent of the patients had a cardiac history: myocardial infarction 13%, CHF 11% and other 21%. Other pertinent past medical history included diabetes 15%, COPD 10% and seizures 3%. The average age was 69.8 +/- 13.7 years. Fifty-seven percent were male. Forty-three percent were on cardiac medication including: digoxin, 24%; nitroglycerin, 12%; potassium supplements, 9%; propranolol, 8%; isordil, 6%; quinidine, 3%; nitropaste, 3%; and other cardiac medications, 15%. One hundred forty-eight (29%) patients developed a pulse at some time during resuscitative efforts, of these 17 (3.4%) patients responded with a pulse immediately after intubation. The mean time of resuscitation to sustaining pulse was 20 +/- 11 min and the mean resuscitation time to sustaining pressure was 22 +/- 11 min. Nineteen percent were successfully resuscitated, defined as a conveyance of a patient with a pulse and a rhythm to an emergency department. Four point four percent were saved, defined as a patient discharged alive from the hospital. Approximately 53% of the successfully resuscitated patients and 45% of the save patients were determined to have a probable respiratory event as the primary etiology of their arrest. This study attempts to provide some insight into the demographic profile of the patients in EMD.
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PMID:Electromechanical dissociation: six years prehospital experience. 254 33

We report two siblings with a mitochondrial encephalomyopathy. The syndrome was characterized by ataxia, intellectual impairment, myoclonic jerks, rare seizures, and small stature. Muscle biopsy specimens showed abnormal accumulations of mitochondria and lipid droplets. Biochemical studies on muscle demonstrated decreased succinate-cytochrome c reductase activity in the mitochondrial respiratory chain.
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PMID:Mitochondrial encephalomyopathy with decreased succinate-cytochrome c reductase activity. 631 58

Standard external CPR (SECPR) steps A, B, and C can maintain the brain's viability if started immediately, but not after prolonged arrest times. "New CPR" (simultaneous ventilation-compression CPR, SVC-CPR) is not suitable for basic life support, and may not be physiologically superior to optimally performed SECPR. The superiority of interposed abdominal compression CPR (IAC-CPR) over SECPR for basic life support is also uncertain. Open-chest CPR is physiologically superior to all external CPR methods studied thus far. Open-chest CPR should again be taught to physicians, and used more often after prolonged cardiac arrest. In intractable cases of cardiac arrest, particularly after prolonged arrest times or cold water drowning, cardiopulmonary bypass appears promising. After restoration of normal perfusion pressures and blood gases, a brain-oriented intensive care protocol for the support of extracerebral organs leads to better outcome than "usual care." Reflow promoting measures, particularly intracarotid hypertensive hemodilution, ameliorate postarrest brain damage and should be developed for clinical use. Barbiturates have been shown to exert no breakthrough effect on outcome after cardiac arrest, but are safe in the hands of those skilled in advanced intensive care. Barbiturates may be of adjunctive value after prolonged cardiac arrest, particularly when used to suppress seizures, facilitate controlled ventilation, and reduce intracranial pressure. Calcium entry blockers have been shown in animal models to improve hemodynamics and cerebral outcome postarrest, but not consistently.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Recent advances in cardiopulmonary-cerebral resuscitation: a review. 638 43

There is a type of cerebral lesion, which kills neuronal cells at a later stage (greater than 48 hrs) post CA, while the systemic circulation is functioning normally. Although this lesion is probably dependent on multiple factors (----multiple therapies), a keyfactor in the pathogenesis is the loss of autoregulation and "finetuning" of the cerebral bloodflow according to local tissue metabolic needs. Although beneficial effect of almost none of the following therapies has been documented in randomised clinical studies, the following suggestions are made: a) In the CA-CPR phase: efficient respiratory care and external cardiac compressions (ECC), especially during bicarbonate administration; consider open chest CPR early, especially in cases of long arrest time and ineffective ECC. The socalled new CPR does not improve neurological outcome. b) In the post CPR phase: The non-autoregulated brain (cfr. focal ischemia) is kept preferentially at pCO2 values 25-30 mmHg, pO2 values greater than 100 mmHg, and normotension. Some form of stress, seizure and hyperthermia control prevents further imbalance metabolism/bloodflow. Relative dehydration, oncotic balance, steroids, early control of sepsis and uremia, early CT scan and measurement/control of ICP. All the above is currently grouped under "standard neuro-intensive therapy". Some other therapies, presently suggested by animal research are not very obvious, need first randomised clinical studies and are not suggested at this stage for clinical use: barbiturate coma, diphantoine, streptokinase, multifaceted therapy including hemodilution-brainflushing, Ca++ influx blocking drugs (lidoflazine). One such "innovative" therapy, barbiturate coma, has already been proven to be relatively ineffective (BRCT I) (Acta anaesth. belg., 1984, 25, suppl., 219-226).
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PMID:Brain protection in the immediate post-resuscitation phase. 651 33

Knowledge regarding the etiology and optimal management of prolonged apnea and its relationship to SIDS is still limited. The majority of infants with prolonged apnea do not die of SIDS, although the risk of SIDS in this group is greater than in the general population. Many infants with prolonged apnea who are perceived by parents and physicians as having had a "life-threatening" event may be at risk for another. Appropriate assessment following this event includes a careful history and physical examination to determine cause and severity. Etiologies to be considered include infections, metabolic aberrations, seizure problems, cardiac arrhythmias or congenital heart disease, anatomic airway abnormalities, gastroesophageal reflux and impaired regulation of breathing. If a specific cause has been identified for the infant's apnea, appropriate treatment often will lead to resolution of the apnea problem. If a specific etiology has not been identified or if the risk of "life-threatening" prolonged apnea seems to persist, electronic cardiorespiratory monitoring may be considered. Appropriate treatment for asymptomatic infants who are at increased statistical risk of SIDS is controversial. Asymptomatic infants may be candidates for home monitoring, but as yet, there are no reliable tests to predict which infants are at risk for prolonged apnea. Monitoring at home must be prescribed by the physician and should be continued until judged no longer appropriate by the attending physician. Skilled caregivers are crucial to the continuous observation and management of these patients in the hospital and at home. Therefore parents should be taught monitor use and also CPR.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Evaluation and management of infantile apnea. 670 8

This study was designed to assess the strain differences in pentobarbital toxicity, narcosis, the development of tolerance and physical dependence, the half-life of pentobarbital and the activities of hepatic microsomal electron transfer chain in DBA/2J, C57BL/6J and ICR mice. The comparisons of responses to acute pentobarbital-induced narcosis with two different doses revealed that DBA was most sensitive among these strains. When continuous administration of pentobarbital by pentobarbital pellet implantation is concerned, four criteria were used to assess strain differences: 1) determination of the duration of the loss of righting reflex during pentobarbital pellet implantation; 2) cumulative mortality after pentobarbital pellet implantation; 3) degree of tolerance development after 3 days of s.c. implantation of a 75-mg pentobarbital pellet by the relative decrease in the pentobarbital sleeping time; and 4) assessment of hyperexcitability by pentylenetetrazol- and audiogenic-induced seizures after pellet removal. The order of susceptibility to continuous pentobarbital pellet implantation was found to be as follows: DBA/2J > C57BL/6J > ICR. The biochemical data also revealed that the half-life of pentobarbital in DBA/2J mice was significantly longer than that of C57BL/6J or ICR mice in both brain and serum. Further studies also showed that DBA/2J mice have lower hepatic cytochrome P-450 and cytochrome b5 levels and NADPH dehydrogenase and NADPH-cytochrome c reductase activities as compared with the other strains of mice. However, these parameters were markedly induced in DBA/2J mice after the development of tolerance to pentobarbital. It appears that the differences in genetic variation could be of importance for further studies in gaining insight of the mechanism of barbiturate tolerance and dependence.
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PMID:Pharmacological responses to pentobarbital in different strains of mice. 719 35

Significant hypothermia is an increasing clinical problem that requires a rapid response with properly trained personnel and techniques. Although the clinical presentation may be such that the victim appears dead, aggressive management may allow successful resuscitation in many instances. Initial management should include CPR if the victim is not breathing or is pulseless. Further core heat loss should be prevented by removing wet garments, insulating the victim, and ventilating with warm humidified air/oxygen to help stabilize core temperature. Core temperature and cardiac rhythm should be monitored in the prehospital setting, if possible, and CPR should be continued during transport. In-hospital management should consist of rapid core rewarming in the severely hypothermic victim with heated humidified oxygen, centrally administered warm IV fluids (43 C), and peritoneal dialysis until extracorporeal rewarming can be accomplished. Postresuscitation complications should be monitored; they include pneumonia, pulmonary edema, cardiac arrhythmias, myoglobinuria, disseminated intravascular thrombosis, and seizures. The decision to terminate resuscitative efforts must be individualized by the physician in charge.
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PMID:Hypothermia. 843 36


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