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)

Amniotic fluid embolism is a catastrophic event of the intra- and early postpartum period which may also be seen with cesarean delivery and during abortions. Presenting symptomatology includes respiratory distress with cyanosis, shock, and possibly tonic-clonic seizures. DIC frequently occurs. The pathogenesis may include entry of amniotic fluid through lacerations or ruptures of the uterus or cervix, through endocervical veins and through abnormal uteroplacental sites, such as with placental abruption, placenta previa, or placenta accreta. Amniotic fluid probably causes cardiovascular-respiratory symptoms by pulmonary vascular obstruction and through a vasoactive substance causing pulmonary vascular constriction. The lethality of amniotic fluid may be enhanced by a high particulate content or meconium staining. The diagnosis of amniotic fluid embolism may be made ante mortem by demonstrating amniotic fluid debris in central blood samples or expectorated sputum. Postmortem diagnosis often requires meticulous examination of the pulmonary microvasculature with the utilization of special stains. Treatment is directed towards symptoms of shock, arterial hypoxemia, and DIC. Acute renal failure may complicate the picture after shock. If the patient survives the embolic and coagulative problems, recovery is usually complete without long-term sequelae.
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PMID:Amniotic fluid embolism. Three case reports with a review of the literature. 402 76

We reviewed clinical data in 33 patients with transient hyperammonemia of the newborn (THAN): six previously unreported cases and 27 from the literature. Thirteen neonates with urea cycle enzyme deficiencies (UCED) served for comparison. No differences were found in the incidence of perinatal complications, route of delivery, Apgar scores, sex, or incidence or time of onset of seizures. On the other hand, neonates with THAN had significantly lower birth weights (mean +/- SEM 2282 +/- 78 gm vs 3336 +/- 222 gm, P less than 0.001) and gestational ages (35.1 +/- 0.5 weeks vs 39.6 +/- 0.5 weeks, P less than 0.001). Mean time of onset of respiratory distress (3.9 +/- 1.4 hours vs 71.5 +/- 26.1 hours, P less than 0.001), ventilatory support (P less than 0.001), lethargy (P less than 0.005), and coma (P less than 0.005) occurred earlier in THAN. Distinctive laboratory findings in patients with THAN included abnormal chest radiographic findings and plasma ammonium concentrations that were higher (1871 +/- 209 microM vs 973 +/- 169 microM, P less than 0.02) at an earlier age. Respiratory distress occurred in all but one patient with THAN before 24 hours; in contrast, only 62% of infants with UCED had respiratory symptoms, and none before 30 hours. In this retrospective study, the clinical presentation alone differentiated THAN from UCED.
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PMID:Differentiation of transient hyperammonemia of the newborn and urea cycle enzyme defects by clinical presentation. 405 69

Curare and other muscle relaxants are being used with increasing frequency in the management of infants who are mechanically ventilated for severe respiratory distress. Neurological evaluation of these paralyzed newborns is difficult and neonatal convulsions may go unrecognized. The present study includes 5 curarized infants in whom neurological impairment was suspected because of complicated pregnancies and perinatal asphyxia. All showed very abnormal EEGs with ongoing paroxysmal activity in the absence of clinical seizures or a severely depressed record. In two of these infants an improvement in the values of the blood-gases coincided with the administration of diazepam. In curarized infants the electroencephalogram is of importance in the evaluation of the background activity, the detection of convulsive brain activity, and in the management of anticonvulsive therapy.
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PMID:The usefulness of electroencephalography in curarized newborns. 616 96

Growth, development, and neurologic status were assessed at 1 year of age in 38 infants of birth weight less than 1,000 gm who were born in 1976 through 1978. Twenty had received mechanical ventilation as newborns, and this group had a significantly higher incidence of respiratory distress syndrome, seizures, cardiac arrest, bronchopulmonary dysplasia, and retrolental fibroplasia than those not ventilated. The ventilated infants had a high incidence (70%) of bronchopulmonary dysplasia and of retrolental fibroplasia (20% grade III or IV). Seven of eight infants with severe developmental delay (greater than 2 SD), six of nine with moderate delay (greater than 1 SD), and seven of eight with neurologic disability had received ventilation. There was no difference in growth between the ventilated and nonventilated children. Of the total group, 53% showed no problems.
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PMID:Early development of infants of birth weight less than 1,000 grams with reference to mechanical ventilation in newborn period. 616 97

Two female infants with nonketotic hyperglycinemia (NKH) were treated with diazepam for the control of seizures. The first infant had seizures, lethargy, and respiratory distress in the first 24 hours of life. The diagnosis of NKH was made at 3 weeks of age and she was then placed on a regimen of strychnine and a low-protein diet. Strychnine therapy was discontinued after three months of treatment because there was no improvement in the seizure control or in the patient's condition. At 5 months of age the patient was referred to our clinic for further work-up. The second infant had seizures, hypotonia, and respiratory distress shortly after birth. She was treated with phenobarbital and diphenylhydantoin, which had no effect on her seizures. The baby was referred to our clinic at 8 months of age and diagnostic studies revealed NKH. All previous medications were stopped and both infants were placed on diazepam, a competitor for glycine receptors in the CNS. Choline and folic acid were added for one-carbon unit transfer and sodium benzoate to bind excessive glycine. Both infants responded to this treatment with cessation of seizures; they became more responsive and alert, and their EEGs showed remarkable improvement despite the persistence of elevated glycine levels in plasma, CSF, and urine. Diazepam as a competitor for the receptors of glycine may prove helpful in controlling the intractable seizures associated with NKH.
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PMID:Nonketotic hyperglycinemia: treatment with diazepam--a competitor for glycine receptors. 630 Jul 46

We have reported a case of transplacentally transmitted herpes simplex virus (HSV) infection in association with both congenital malformations and other serious abnormalities, including facial abnormalities, microcephaly, cerebral atrophy, and microscopic cranial calcifications. Before death, the infant showed marked neurologic deficits, seizures, and respiratory distress. Serum IgM and complement fixing antibodies to HSV were elevated at birth. Light and electron microscopy and immunofluorescence studies confirmed the presence of the virus.
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PMID:Herpes simplex virus and congenital malformations. 631 63

Foreign body in the tracheobronchial tree is a relatively infrequent, but, potentially fatal event, requiring rapid and expert intervention. The symptoms and signs may be mistaken for asthma and pneumonia, - or, as in the case described, with grand mal epileptiform seizures. This emphasises the need to take a thorough case history, and to have a high index of suspicion in a case presenting with convulsion associated with cough, wheezing or respiratory distress.
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PMID:Pulmonary aspiration presenting with generalised convulsions. 641 86

We introduced a rapid rewarming technique as part of standard therapy in 16 newborn infants with effects of severe environmental hypothermia. On admission, mean rectal temperature was 31.0 +/- 2.7 degrees C, mean gestational age was 33.4 +/- 4.5 weeks, and mean birth weight was 1.76 +/- 0.71 kg. Thirteen infants were admitted within 30 hours of delivery, and the remainder at 2 to 3 weeks of age. Infants were rewarmed under a radiant warmer. The mean time required to reach a rectal temperature of 36.5 degrees C was 3.96 +/- 2.37 hours. Major medical entities encountered included thrombocytopenia (eight patients), metabolic acidosis (eight), respiratory distress (eight), renal failure (six), apnea (four), patent ductus arteriosus (four), seizures (four), intracranial hemorrhage (three), infection (three), and necrotizing enterocolitis (two). No complications could be attributed to the rapid rewarming technique. Of three infants who died, all weighed less than 1.25 kg at birth. This 81% survival is in contrast to the high mortality (25% to 50%) noted previously among infants treated by gradual rewarming.
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PMID:Improved prognosis in severely hypothermic newborn infants treated by rapid rewarming. 647 Aug 70

The longitudinal study of a hyperlexic girl, A.E., is described. Although her WISC-R IQ was 58, her reading was significantly advanced for age and level of intellectual functioning. She was socially withdrawn and displayed repetitive and self-stimulation behaviors. At birth she weighed 1000 g and was 32 weeks gestational age. She had severe respiratory distress, seizures and apnea in the perinatal period. She had a history of significantly delayed development, although the delays were more pronounced in language than in perceptual motor skills. She demonstrated difficulties with semantic and syntactic processing of language and could read words and sentences of which she had little or no comprehension. The existence of reading in spite of severely disordered language suggests that reading may occur by visual and/or phonological routes but that semantic and syntactical processing of words is not essential.
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PMID:A longitudinal study of a hyperlexic child: hyperlexia as a language disorder. 650 98

A symptomatic elevation in plasma ammonium concentration, termed hyperammonemia, is associated with numerous congenital and acquired conditions (Table 11). In some cases, such as urea cycle disorders, ammonia is the principal toxin. In other instances, such as portal systemic encephalopathy, it is but one of a number of metabolic disturbances, However, in either case hyperammonemic episodes should be treated aggressively to prevent coma, subsequent brain damage, or death. This involves restricting protein intake, providing adequate calories, and giving agents that remove accumulated nitrogen. Long-term therapy relies on diagnosing the specific disease rate. This rarely requires invasive procedures such as liver biopsy. In most cases measurement of plasma amino acids and urinary organic acids will identify the defect. Treatment involving restriction of nitrogen intake, vitamin supplementation, or stimulation of alternative pathways of waste nitrogen excretion can then be instituted. Early therapy, especially in patients with neonatal-onset hyperammonemia, is imperative to avoid severe brain damage. On this basis, the plasma ammonium level should be determined in virtually every newborn with lethargy, hypotonia, poor feeding, seizures, and/or respiratory distress of unclear origin (Table 12).
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PMID:Hyperammonemia. 651 17


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