Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two cases of the latent form of Asphyxiating Thoracic Dystrophy or Asphyxiating Thoracic Dystrophy without respiratory disease or respiratory problems are reported. The skeletal survey was diagnostic in both of them. In the first case it was performed after the pelvic film, ordered because of externally rotated thighs, showed triradiate acetabulum. In the second case the skeletal survey was requested because of undiagnosed mental retardation syndrome.
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PMID:Asphyxiating thoracic dystrophy without respiratory disease: report of two cases of the latent form. 82 32

Mortality rates for institutionalized persons with mental retardation were presented. Rates were provided for two time intervals, 1974 through 1979 and 1980 through 1985, and by age, race, and gender. Consistent differences between black and white residents or by gender were not indicated. However, significant improvement in mortality did occur between the two time periods. Persons with profound retardation were found to have higher mortality than those whose retardation was mild to severe. Respiratory disease was the most prevalent cause of death among the individuals with profound mental retardation, whereas heart disease and cancer were the most common causes of death among persons with mild, moderate, or severe retardation. Aging of the population was noted over the period of the study, indicative of the increasing frailty of the institutionalized population.
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PMID:Mortality in a large southeastern facility for persons with mental retardation. 200 9

The objective of this study was to determine which causes of death are more frequent in persons with autism, and by how much, compared with the general population. Subjects were 13,111 ambulatory Californians with autism, followed between 1983 and 1997. The units of study were person-years, each linked to the subject's age, sex, and cause of death (if any) for the specific year. Observed numbers of cause-specific deaths were compared with numbers expected according to general population mortality rates. Standardized mortality rates (SMRs) were computed for each mental retardation level. Elevated death rates were observed for several causes, including seizures and accidents such as suffocation and drowning; elevated mortality due to respiratory disease was observed among persons with severe mental retardation. Overall, excess mortality was especially marked for persons with severe mental retardation, but life expectancy is reduced even for persons who are fully ambulatory and who have only mild mental retardation.
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PMID:Causes of death in autism. 1656 85

Epigenetics is the term used to describe heritable changes in gene expression that are not coded in the DNA sequence itself but by post-translational modifications in DNA and histone proteins. These modifications include histone acetylation, methylation, ubiquitination, sumoylation and phosphorylation. Epigenetic regulation is not only critical for generating diversity of cell types during mammalian development, but it is also important for maintaining the stability and integrity of the expression profiles of different cell types. Until recently, the study of human disease has focused on genetic mechanisms rather than on non-coding events. However, it is becoming increasingly clear that disruption of epigenetic processes can lead to several major pathologies, including cancer, syndromes involving chromosomal instabilities, and mental retardation. Furthermore, the expression and activity of enzymes that regulate these epigenetic modifications have been reported to be abnormal in the airways of patients with respiratory disease. The development of new diagnostic tools might reveal other diseases that are caused by epigenetic alterations. These changes, despite being heritable and stably maintained, are also potentially reversible and there is scope for the development of 'epigenetic therapies' for disease.
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PMID:Epigenetics and airways disease. 1646 May 59

Substance abuse in pregnancy has increased over the past three decades in the United States, resulting in approximately 225,000 infants yearly with prenatal exposure to illicit substances. Routine screening and the education of women of child bearing age remain the most important ways to reduce addiction in pregnancy. Legal and illegal substances and their effect on pregnancy discussed in this review include opiates, cocaine, alcohol, tobacco, marijuana, and amphetamines. Most literature regarding opiate abuse is derived from clinical experience with heroin and methadone. Poor obstetric outcomes can be up to six times higher in patients abusing opiates. Neonatal care must be specialized to treat symptoms of withdrawal. Cocaine use in pregnancy can lead to spontaneous abortion, preterm births, placental abruption, and congenital anomalies. Neonatal issues include poor feeding, lethargy, and seizures. Mothers using cocaine require specialized prenatal care and the neonate may require extra supportive care. More than 50% of women in their reproductive years use alcohol. Alcohol is a teratogen and its effects can include spontaneous abortion, growth restriction, birth defects, and mental retardation. Fetal alcohol spectrum disorder can have long-term sequelae for the infant. Tobacco use is high among pregnant women, but this can be a time of great motivation to begin cessation efforts. Long-term effects of prenatal tobacco exposure include spontaneous abortion, ectopic pregnancy, placental insufficiency, low birth weight, fetal growth restriction, preterm delivery, childhood respiratory disease, and behavioral issues. Marijuana use can lead to fetal growth restriction, as well as withdrawal symptoms in the neonate. Lastly, amphetamines can lead to congenital anomalies and other poor obstetric outcomes. Once recognized, a multidisciplinary approach can lead to improved maternal and neonatal outcomes.
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PMID:Addiction in pregnancy. 2040 75