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 30 year old woman with marked joint hypermobility had severe, progressive lung disease, seizures, aneurysms of the sinuses of Valsalva and myocardial infarction documented during life. She died of intractable ventricular fibrillation, and postmortem examination showed myocardial injury in the distribution of the left coronary artery but no occlusive coronary artery disease. Severe panacinar emphysema was found in the lungs. Cerebral heterotopias with peculiar vascularization were present and were a likely cause of the seizure disorder. Electron microscopy showed dermal collagen fibrils to be heterogeneous in size, reduced in number, and irregular and frayed in appearance. This patient had a form of the Ehlers-Danlos syndrome, different from the 10 distinct variants described thus far, associated with lethal internal manifestations.
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PMID:Ehlers-Danlos syndrome with abnormal collagen fibrils, sinus of Valsalva aneurysms, myocardial infarction, panacinar emphysema and cerebral heterotopias. 731 50

A retrospective analysis of six cases of central nervous system paracoccidioidomycosis, all but one proven by biopsy and surgery, was carried out to study the CT and clinical data and pathological correlation. Most of the patients were from the country. Headache, vomiting, seizures and hemiparesis were the most frequent symptoms. Papilloedema was present in four patients with raised intracranial pressure. Five patients had chronic lung disease and two with advanced systemic disease, skin and mucous membrane lesions were also observed. The neurological disturbance was sometimes the presenting features and the diagnosis was discovered incidentally after surgery. Both solitary and multiple parenchymal lesions were observed and the cerebral hemispheres were more commonly involved in four patients. Local meningeal involvement was observed in one with a single cortical granuloma. We emphasise the usefulness of CT, showing a rounded or lobulated mass with an isodense or radiolucent centre after contrast enhancement, surrounded by an irregular wall of varying thickness. There was always moderate oedema, extending peripherally. Other infections or neoplastic diseases may present similar findings. Preoperative diagnosis should rest on integration of clinical data, chest films, laboratory and neuroimaging studies.
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PMID:Paracoccidioidomycosis of the central nervous system: CT findings. 874 94

These clinical guidelines, which have been reviewed and approved by the Board of Directors of the American Sleep Disorders Association, provide recommendations for the practice of sleep medicine in North America regarding the indications for polysomnography in the diagnosis of sleep disorders. Diagnostic categories that are considered include the following: sleep-related breathing disorders; neuromuscular disorders and sleep-related symptoms; chronic lung disease; narcolepsy; parasomnias; sleep-related epilepsy; restless legs syndrome; periodic limb movement disorder; depression with insomnia; and circadian rhythm sleep disorders. Whenever possible, conclusions are based on evidence from review of the literature. Where scientific data are absent, insufficient, or inconclusive, recommendations are based on consensus of opinion. The Standards of Practice Committee of the American Sleep Disorders Association appointed a task force to review the topic, the indications for polysomnography and related procedures. Based on the review and on consultation with specialists, the subsequent recommendations were developed by the Standards of Practice Committee and approved by the Board of Directors of the American Sleep Disorders Association. Polysomnography is routinely indicated for the diagnosis of sleep-related breathing disorders; for continuous positive airway pressure (CPAP) titration in patients with sleep-related breathing disorders; for documenting the presence of obstructive sleep apnea in patients prior to laser-assisted uvulopalatopharyngoplasty; for the assessment of treatment results in some cases; with a multiple sleep latency test in the evaluation of suspected narcolepsy; in evaluating sleep-related behaviors that are violent or otherwise potentially injurious to the patient or others; and in certain atypical or unusual parasomnias. Polysomnography may be indicated in patients with neuromuscular disorders and sleep-related symptoms; to assist in with the diagnosis of paroxysmal arousals or other sleep disruptions thought to be seizure-related; in a presumed parasomnia or sleep-related epilepsy that does not respond to conventional therapy; or when there is a strong clinical suspicion of periodic limb movement disorder. Polysomnography is not routinely indicated to diagnose chronic lung disease; in cases of typical, uncomplicated, and noninjurious parasomnias when the diagnosis is clearly delineated; for patients with epilepsy who have no specific complaints consistent with a sleep disorder; to diagnose or treat restless legs syndrome; for the diagnosis of circadian rhythm sleep disorders; or to establish a diagnosis of depression.
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PMID:Practice parameters for the indications for polysomnography and related procedures. Polysomnography Task Force, American Sleep Disorders Association Standards of Practice Committee. 930 25

The ability to safely and efficiently feed by mouth is based on oral-motor competence, neurobehavioral organization, and gastrointestinal maturity. Although most infants successfully make the transition to oral feedings as they approach term gestation, infants who were very immature at birth have historically had the most difficulty achieving this milestone. Postnatal complications (chronic lung disease, intraventricular hemorrhage, seizures, and so on) are also associated with delays in the onset of the first feeding, as well as with delays in achieving full enteral intake. Weaning the infant to breast is a slow and gradual process that may necessitate supplemental gavage or bottle feedings. A variety of measures--such as positioning, containment, reduced milk flow, and imposed rest breaks--may help to facilitate better oral intake, but infants probably benefit most from the passage of time. Frequently, the older the infant is at first feeding, the shorter the time required to make the transition to full oral feedings. Rather than attempting to accelerate the inherent maturational processes that form the basis for oral feeding, efforts might better be spent in providing adequate nutritional support while avoiding unnecessary stress and fatigue.
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PMID:From gavage to oral feedings: just a matter of time. 1214 17

Pulmonary disease is a rare manifestation of Tuberous Sclerosis. We report a case where the patient presented with seizures, shortness of breath, popular lesions on the face and warty growths over the skin. She was intubated and the lung expanded on the 7th day after a longstanding pneumothorax of 3 months.
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PMID:Tuberous sclerosis--rare presentation as pneumothorax. 1506 37

Acute respiratory failure is a common complication of drug abuse. It is more likely to develop in the setting of chronic lung disease or debility in those with limited respiratory reserve. Drugs may acutely precipitate respiratory failure by compromising respiratory pump function and/or by causing pulmonary pathology. Polysubstance overdoses are common, and clinicians should anticipate complications related to multiple drugs. Impairment of respiratory pump function may develop from central nervous system (CNS) depression (suppression of the medulla oblongata, stroke or seizures) or respiratory muscle fatigue (increased respiratory workload, metabolic acidosis). Drug-related respiratory pathology may result from parenchymal (aspiration-related events, pulmonary edema, hemorrhage, pneumothorax, infectious and non-infectious pneumonitides), airway (bronchospasm and hemorrhage), or pulmonary vascular insults (endovascular infections, hemorrhage, and vasoconstrictive events). Alcohol, cocaine, amphetamines, opiates, and benzodiazepines are the most commonly abused drugs that may induce events leading to acute respiratory failure. While decontamination and aggressive supportive measures are indicated, specific therapies to correct seizures, metabolic acidosis, pneumothorax, infections, bronchospasm, and agitation should be considered. Drug-related respiratory failure when due to CNS depression alone may portend well, but in patients with drug-related significant pulmonary pathology, a protracted course of illness may be anticipated.
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PMID:Acute respiratory failure from abused substances. 1529 19

This review is focused on pathways and mechanisms that might provide molecular links between the pathogenesis of renal and pulmonary disease in tuberous sclerosis complex and the pathogenesis of the neurologic manifestations of tuberous sclerosis complex. Tuberous sclerosis complex is an autosomal dominant disorder in which the manifestations can include seizures; mental retardation; autism; benign tumors of the brain, retina, skin, and kidneys; and pulmonary lymphangiomyomatosis. Lymphangiomyomatosis is a life-threatening lung disease affecting almost exclusively young women. Genetic data have demonstrated that the cells giving rise to renal angiomyolipomas, the most frequent tumor type in patients with tuberous sclerosis complex, exhibit differentiation plasticity. Genetic studies have also shown that the benign smooth muscle cells of angiomyolipomas and pulmonary lymphangiomyomatosis have the ability to migrate or metastasize to other organs. These findings indicate that hamartin and tuberin play functional roles in the regulation of cell migration and differentiation. The biochemical pathways responsible for these effects are not yet fully understood but might involve dysregulation of the small guanosine triphosphatase Rho. Similar pathways might contribute to aberrant neuronal differentiation and migration in tuberous sclerosis complex.
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PMID:Aberrant cellular differentiation and migration in renal and pulmonary tuberous sclerosis complex. 1556 18

Respiratory syncytial virus (RSV) has been described as the single most important virus causing acute respiratory infections, especially bronchiolitis and pneumonia, in children. The most severe infections affect the youngest infants and well-defined high-risk groups, including infants with a history of premature birth, and those with chronic lung disease, congenital heart disease, cystic fibrosis and immunodeficiency. It has been reported that approximately 1/3 of high-risk children hospitalized with RSV infection are admitted to the intensive care unit, while the need for mechanical ventilation and mortality rate are increased in infants with underlying cardiac disease or chronic lung disease. The majority of infants hospitalized for RSV lower respiratory tract infection develop one complication or more, which have an impact on hospital length of stay and costs. A relatively uncommon complication consisting of seizures and other neurologic abnormalities such as lethargy, irritability and abnormal tone has been sporadically reported in infants and children with RSV respiratory infection. A recent study first focused on the association between RSV bronchiolitis and an encephalopathic process occurring in the form of a seizures disorder. This transient neurologic complication seems to be frequently associated with an abnormal EEG pattern, but no anatomic brain damages have been shown. Little is known about the long-term neurodevelopmental outcomes of children developing RSV-related encephalopathy, so a prolonged period of neurologic follow up can be recommended.
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PMID:Acute encephalopathy associated with respiratory syncytial virus infections in childhood. A literature review. 1617 Feb 98

These practice parameters are an update of the previously-published recommendations regarding the indications for polysomnography and related procedures in the diagnosis of sleep disorders. Diagnostic categories include the following: sleep related breathing disorders, other respiratory disorders, narcolepsy, parasomnias, sleep related seizure disorders, restless legs syndrome, periodic limb movement sleep disorder, depression with insomnia, and circadian rhythm sleep disorders. Polysomnography is routinely indicated for the diagnosis of sleep related breathing disorders; for continuous positive airway pressure (CPAP) titration in patients with sleep related breathing disorders; for the assessment of treatment results in some cases; with a multiple sleep latency test in the evaluation of suspected narcolepsy; in evaluating sleep related behaviors that are violent or otherwise potentially injurious to the patient or others; and in certain atypical or unusual parasomnias. Polysomnography may be indicated in patients with neuromuscular disorders and sleep related symptoms; to assist in the diagnosis of paroxysmal arousals or other sleep disruptions thought to be seizure related; in a presumed parasomnia or sleep related seizure disorder that does not respond to conventional therapy; or when there is a strong clinical suspicion of periodic limb movement sleep disorder. Polysomnography is not routinely indicated to diagnose chronic lung disease; in cases of typical, uncomplicated, and noninjurious parasomnias when the diagnosis is clearly delineated; for patients with seizures who have no specific complaints consistent with a sleep disorder; to diagnose or treat restless legs syndrome; for the diagnosis of circadian rhythm sleep disorders; or to establish a diagnosis of depression.
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PMID:Practice parameters for the indications for polysomnography and related procedures: an update for 2005. 1617 Dec 94

Survival rates from childhood cancer have dramatically improved over the past three decades; average overall 5-yr survival rates are now > 75%. However, this has been achieved by treatments associated with significant morbidity that may present many years later. This review seeks to delineate the basic information necessary to evaluate flight-training candidates with a history of childhood cancer. We performed a literature review using the Medline database with appropriate search terms related to delayed morbidity and mortality associated with childhood cancer; we did not attempt to evaluate the risk of recurrent cancer. The neurological, cardiovascular, and pulmonary systems were identified areas of aeromedical concern. Central nervous disease and treatment-related effects may increase the risk of seizures or other neurocognitive sequelae. The cardiac toxicity of chemotherapeutic agents such as anthracyclines and radiation may cause late-occurring arrhythmia, cardiac failure, and sudden death, while available screening modalities are of limited value. Pulmonary disease and related treatment effects may cause a 9-fold increase of late-occurring pulmonary fibrosis and lung cancer, with increasing prevalence as long as 25 yr following the cancer diagnosis. Additionally, second malignancies may occur in up to 12.5% of cancer survivors at 25 yr after cancer diagnosis, affecting medical clearance for flight training. In summary, this review discusses the relevant aeromedical issues, including disabilities with specific relevance to the flying environment, risk estimation of late-occurring treatment complications, and possible interactions with occupational exposures in aircrew.
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PMID:Long-term survivors of childhood malignancies--aeromedical dilemmas and implications. 1718 23


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