Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032290 (aspiration pneumonia)
 2,291 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Infants born to opiate-dependent women frequently have low birth weights and low 1- and 5-min Apgar scores. Significant postnatal problems, excluding neonatal withdrawal, can include jaundice, infection, aspiration pneumonia, transient tachypnea, and hyaline membrane disease. Neonatal abstinence may be severe and persist for as long as 3 months. Abstinence symptoms can include central nervous system hyperirritability, gastrointestinal dysfunction, respiratory distress, tremors, fever, high-pitched cry, increased muscle tone, uncoordinated sucking and swallowing reflexes, dehydration, and possible electrolyte imbalance. During the first week of life, increased respirations associated with hypocapnia and alkalosis may occur. The Brazelton Neonatal Behavioral Assessment Scale has been used to quantify the neurobehavioral effects on neonates of narcotics administered prenatally. A marked decline in mortality rates of infants born to opiate-dependent mothers is evident. In Philadelphia, infant morbidity has been related not only to the type of maternal narcotic dependence, but also to the amount of prenatal care. Infants whose mothers received prenatal care have been found to have higher birth weights similar to infants of control mothers. Although the newborn with intrauterine exposure to narcotic agents may appear normal at birth, the effects of the pharmacologic agent may not become apparent until later in development. To obtain a more favorable outcome for the high-risk mother and child involved in the problems of perinatal addiction, several recommendations are proposed.
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PMID:Effects of maternal opiate abuse on the newborn. 388 86

Selective dorsal rhizotomy has shown great promise as a treatment for the functional disabilities and deforming hypertonia of spastic cerebral palsy. At New York University Medical Center, 200 children underwent this procedure between 1986 and 1990. All groups, whether walkers, crawlers, or nonlocomotors, showed improvement in the tone and range of most muscles tested. Half of these patients experienced complications. Thirty-five of these were serious and included bronchospasm (5.5%), aspiration pneumonia (3.5%), urinary retention (7%), and sensory loss (2%). There are, however, clear indications that warn of these complications; monitoring and prophylactic treatment can minimize their effects, and the possibility of such problems is more than offset by the proven benefits of this operative procedure.
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PMID:Selective dorsal rhizotomy: outcome and complications in treating spastic cerebral palsy. 826 82

Hyperekplexia is primarily an autosomal dominant disease characterized by exaggerated startle reflex and neonatal hypertonia. It can be associated with, if untreated, sudden infant death from apnea or aspiration pneumonia and serious injuries and loss of ambulation from frequent falls. Different mutations in the alpha1 subunit of inhibitory glycine receptor (GLRA1) gene have been identified in many affected families. The most common mutation is Arg271 reported in at least 12 independent families. These mutations uncouple the ligand binding and chloride channel function of inhibitory glycine receptor and result in increased excitability in pontomedullary reticular neurons and abnormal spinal reciprocal inhibition. Three mouse models from spontaneous mutations in GLRA1 and beta subunit of inhibitory glycine receptor (GLRB) genes and two transgenic mouse models are valuable for the study of the pathophysiology and the genotype-phenotype correlation of the disease. The disease caused by mutation in GLRB in mice supports the notion that human hyperekplexia with no detectable mutations in GLRA1 may harbor mutations in GLRB. Clonazepam, a gamma aminobutyric acid (GABA) receptor agonist, is highly effective and is the drug of choice. It enhances the GABA-gated chloride channel function and presumably compensates for the defective glycine-gated chloride channel in hyperekplexia. Recognition of the disease will lead to appropriate treatment and genetic counseling.
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PMID:Hyperekplexia: a treatable neurogenetic disease. 1242 12

Hyperekplexia (OMIM 138491) is primarily an autosomal dominant disease characterized by exaggerated startle reflex and neonatal hypertonia. If untreated it can be associated with sudden infant death from apnea or aspiration pneumonia and serious injuries. Different mutations of the alpha1-subunit of inhbitory glyzine receptor (GLRA1) could be found. Clonazepame, a gammaaminobutyric acid (GABA) receptor agonist is the therapy of choice. An early diagnose will lead to appropriate treatment and genetic counseling.
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PMID:[Hyperekplexia -- a treatable neuropediatric disease]. 1603 47