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

The diagnosis, management, and long-term outcome of 32 patients with congenital central hypoventilation syndrome are summarized. Sleep hypoventilation was severe in all cases, resulting in an alveolar carbon dioxide pressure (mean +/- SEM) of 62 +/- 2.5 mm Hg and a hemoglobin saturation of 65% +/- 3.3% without ventilatory or arousal response. Awake hypoventilation on initial assessment was present in 12 of the 32 patients, resulting in an alveolar carbon dioxide pressure of 58 +/- 2.2 mm Hg and a hemoglobin saturation of 59% +/- 7%. Associated conditions included pulmonary hypertension or cor pulmonale or both (78%), heart block and sick sinus syndrome requiring a cardiac pacemaker (two patients), mild atrophy by cranial imaging evidence (40%), seizures (72%), normal brain-stem auditory evoked responses in all but one patient tested, ganglioneuroblastomas (one patient), Hirschsprung disease (16%), and ophthalmologic abnormalities (60%). Growth was deficient in 44% of patients; hypotonia or major motor delay or both were apparent in all. Twenty-two patients are living; 12 of them require continuous ventilatory support and 10 breathe spontaneously while awake and require ventilatory support while asleep. Ten patients have died. Autopsy performed in six cases indicated diffuse central nervous system astrocytosis, gliosis, and atrophy but no primary brain-stem abnormality. Although these data support a diffuse central nervous system process, the specific cause and the mode of inheritance remain unclear. With early diagnosis and careful ventilatory management, the sequelae of hypoxia and morbidity should be minimized and long-term outcome improved.
 ...
PMID:Congenital central hypoventilation syndrome: diagnosis, management, and long-term outcome in thirty-two children. 153 84

The application of recombinant DNA technology to the production of tumor necrosis factor has resulted in the availability of large quantities of a highly purified protein product. This product has been evaluated extensively in preclinical studies, which have documented a direct cytostatic and cytotoxic effect on human tumor cells, as well as a variety of immunomodulatory effects on various immune effector cells, including neutrophils, macrophages, and T cells. In addition, a number of anti-infective and metabolic effects have been documented. In addition to its in vitro effects, rTNF has been shown to have antitumor activity in vivo in preclinical studies involving both transplantable murine tumors and human tumor xenografts. Such observations have led to the evaluation of rTNF as a potential antineoplastic agent in humans. Both single- and multiple-dose phase I studies have confirmed that rTNF can be safely administered to patients with advanced malignancies in a dose range associated with anticancer effect without concomitant serious toxicities such as shock and cachexia. The most commonly observed clinical toxicities include constitutional symptoms, such as fever, chills, headache, and fatigue, and toxicities, which can be at least partially controlled with concomitant administration of nonsteroidal anti-inflammatory drugs, such as acetaminophen and meperidine. Hypotension, which occurs at high doses administered by short intravenous infusion, can usually be prevented by prehydration with intravenous fluids or otherwise controlled by the administration. An intense local inflammatory reaction at the injection site as well as thrombocytopenia appear to be the dose-limiting toxicities after subcutaneous and intramuscular administration. Neurologic toxicity is infrequent, except following continuous intravenous infusion, where it may manifest as transient focal neurologic deficits or seizure. Prolonged administration of rTNF at higher doses may be associated with transient, subclinical decreases in diffusing capacity. Patients with underlying cardiopulmonary disease should be excluded from rTNF therapy in future clinical studies until the end-organ toxicities of this agent are better defined. For at least one preparation of rTNF there appears to be no evidence for the formation of antibodies to rTNF in patients who receive multiple administrations of the agent. Pharmacokinetic studies have shown a relatively rapid clearance following intravenous infusion with a half-life of 15 to 30 min and dose-dependent pharmacokinetics. rTNF can be detected in the serum following intramuscular or subcutaneous injection at only relatively high doses, suggesting a decreased bioavailability with the routes of administration. Early phase I studies defined tolerable dose ranges for each route of administration and began to explore immunomodulatory and metabolic effects of rTNF.(ABSTRACT TRUNCATED AT 400 WORDS)
 ...
PMID:Recombinant human TNF-alpha: preclinical studies and results from early clinical trials. 155 Aug 75

Juvenile temporomandibular bony ankylosis may generate micro- and retroposition of the mandible. Collapse of the upper airway during sleep due to muscle atonia awakens the patient, leading to compensative diurnal hypersomnia. In severe cases, alveolar hypoventilation may result in anoxic seizure, sudden death or development of life threatening cor pulmonale. The corrective surgical procedure for adult is an anterior sagittal osteotomy and in the growing child, costochondral grafting is proposed. Pre and post operative polysomnograms with recording of oxygen saturation are objective measures of good surgical results.
 ...
PMID:[Treatment of two cases of periodic sleep apnea by maxillo-facial surgery]. 181 61

Juvenile temporomandibular bony ankylosis may generate micro- and retroposition of the mandible. Collapse of the upper airway during sleep due to muscle atonia awakens the patient, leading to compensative diurnal hypersomnia. In severe cases, alveolar hypoventilation may result in anoxic seizure, sudden death or development of life threatening cor pulmonale. The corrective surgical procedure for adult is an anterior sagittal osteotomy and in the growing child, costochondral grafting is proposed. Pre- and post-operative polysomnograms with recording of oxygen saturation are objective measures of good surgical results.
 ...
PMID:[Sleep obstructive apnea syndrome and temporomandibular ankylosis. Maxillofacial correction for adults and children]. 279 46

Two patients, aged 44 and 68 years, presented with generalized seizures either witnessed or highly suspected. Both patients had laboratory-proven subtherapeutic anticonvulsant serum levels. The patients differed with regard to risk; one patient had existing cardiopulmonary disease, and the other was free of such risk factors except liver disease. An apparently appropriate dose of intravenous phenytoin was initiated in each case, and the patients were monitored appropriately and given supplemental oxygen. Bradycardia, hypotension, respiratory distress, and, ultimately, cardiopulmonary arrest occurred in both. The criteria proposed by Earnest et al. should be implemented for each seizure case that requires a decision on the urgent need for therapeutic anticonvulsant levels, whether by mechanical infusion, manual intravenous push, or oral loading. The mechanical infusion is the easiest method to standardize and monitor. The manual intravenous push has a greater possibility of inadvertent overdosage during some small time frame, as well as more local symptoms by some reports. Record et al. have recommended oral loading in selected patients. Careful consideration must be made of the choice of environment in which intravenous loading is done (e.g., emergency department, intensive care unit), as dictated by patient parameters, nursing staff levels, and planned disposition. The crucial factors contributing to the deterioration of both patients in the two cases presented were the concentration of phenytoin manually infused and the possibility that their high-risk status made them poor candidates for manual intravenous phenytoin. Dose and a hypersensitivity reaction were doubtful factors in these cases.
 ...
PMID:Cardiopulmonary arrest following intravenous phenytoin loading. 337 Jan 3

There is evidence from pediatric tertiary care centers in the United States that childhood deaths from asthma in hospitalized patients are becoming increasingly rare, while asthma mortality outside the hospital appears to be on the rise. When a young outpatient with asthma dies, the event is apt to be sudden and unanticipated and the victim is likely to be a preadolescent or adolescent who has suffered from asthma most of his or her life and who, despite ongoing bronchodilator therapy, requires hospitalizations for treatment of status asthmaticus. Patients in this age cohort have a strong tendency to underuse, overuse, or neglect to use prescribed medications, possibly as a gesture of emerging independence or because of the depression engendered by a chronic illness. In some instances serious psychosocial pathology accounts for noncompliance. For a patient with chronic asthma with a high-risk profile, any departure from an ongoing treatment regimen may result in respiratory failure. Pathologic complications of asthma may also act to upset the precarious physiologic equilibrium these patients have established. Unsuspected chronic pneumonia may lead to further increases in a chronically high degree of oxygen desaturation. Hypoxic seizures during an asthma attack may precipitate pulmonary edema. Tension pneumothorax has an even greater fatality potential for high-risk patients with asthma than it has for other patients with asthma, and pulmonary hypertension with cor pulmonale may develop because of chronic hypoxia. Some sudden deaths in children with chronic, severe asthma are unassociated with any of the above, making it necessary to entertain still other hypotheses.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:An analysis of fifteen childhood asthma fatalities. 362

Recent definition of the pharmacodynamics and pharmacokinetic characteristics of theophylline and readily available, specific assays have increased the therapeutic benefits from this drug while decreasing the risk of toxicity. Once familiarity is achieved with the various factors that alter clearance, such as age, smoking habits, physiological abnormalities, and concurrent drug therapy, initial dosage can be appropriately individualized. Careful product selection, the slow progressive titration of dose over nine days, and the accurate measurement and interpretation of serum theophylline concentration prevent adverse effects and interactions. However, long-term therapy with theophylline should probably be avoided when other alternatives are available in patients with cor pulmonale, liver dysfunction, cardiac decompensation, migraine headaches, and seizure disorders.
 ...
PMID:Avoidance of adverse effects during chronic therapy with theophylline. 700 76

Recurrent apneic episodes were typically associated with sleep, not wakefulness, in an infant with congenital primary hypoventilation ("Ondine's Curse"). Quiet sleep (SLQ) was shown to constitute a higher risk condition than active sleep (SLA) at the ages she was recorded polygraphically (2-4 months old). This infant's respiratory disorder was complicated by recurrent pneumonia, seizures and deficient growth which resulted in death at the age of eight months. Necropsy revealed bronchopulmonary dysplastic fibrosis and cor pulmonale. Neuropathologic examination failed to reveal pathologic changes in the brainstem.
 ...
PMID:Sleep apnea studies in an infant with congenital primary hypoventilation ("Ondine's curse"). 723 87

Hypoventilation in children with hypertrophied tonsils can cause hypoxemia, hypercarbia, acidosis and pulmonary vasoconstriction resulting in cardiac arrhythmias or cor pulmonale. In addition, cerebral symptoms such as day-time hypersomnia or even seizures may be present. Early recognition of hypertrophied tonsils is necessary to avoid development of severe cardiac symptoms. If cardiac incompensation is present, medical treatment is advocated prior to tonsillectomy. Anaesthesia for tonsillectomy in these children is associated with special considerations. Preoperative sedation should be excluded, and inhalational induction with O2 and Halothane is recommended. On induction a difficult intubation should be expected.
 ...
PMID:[Hypertrophic tonsils, upper airway obstruction and cardiac complications. A combined otological, medical and anesthesiological problem]. 825 5

Idiopathic congenital central alveolar hypoventilation syndrome, otherwise known as Ondine's curse, is a rare neuropathologic syndrome characterized by an inadequate respiratory drive with hypoventilation and periods of prolonged apnea resulting in hypercarbia and hypoxemia. Although no definite pathologic abnormality has been identified to account for the disorder, it is thought to represent a primary defect related to altered function of central chemoreceptors resulting in defective control of minute ventilation. Associated problems related to neural crest cell migration, including neuroblastoma formation and Hirschsprung's disease, suggest that the primary defect is defective neural crest cell migration and function. Problems that may impact on perioperative care include the defective central control of ventilation and defective control of upper respiratory musculature, which may lead to upper airway obstruction. Although many patients will have previously undergone tracheostomy and chronic mechanical ventilation, problems in other organ systems can impact on perioperative care. Cardiovascular issues include the possible presence of cor pulmonale and autonomic nervous system dysfunction. Central nervous system issues include the frequent occurrence of seizures and mental retardation. The preoperative work-up, premedication, and the intraoperative/postoperative care and monitoring of these patients is reviewed.
 ...
PMID:Anesthetic care for the child with congenital central alveolar hypoventilation syndrome (Ondine's curse). 1052 17


1 2 Next >>