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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Many human genetic diseases, including some cancers, are characterized by consistent chromosome abnormalities, such as deletions and translocations. Analyses of these mutations often prove crucial to the eventual cloning and characterization of the gene(s) responsible for the disease. Two methods for analyzing these chromosome abnormalities have been developed in recent years: somatic cell hybridization and pulsed field gel electrophoresis (PFGE). Somatic cell hybridization is a technique for segregating an aberrant chromosome from its normal homologue in a cell derived from an unrelated species, which is usually a rodent. Panels of such hybrids dividing a given chromosomal region into increasingly smaller units can be constructed and used specifically to map DNA probes into those units. PFGE can then be used to define precise physical distances between such an array of chromosome abnormalities. Demonstrations of these analytic techniques are presented, using as an example chromosomal abnormalities involving human chromosome band 11p13, the locus for the Wilms' tumor, aniridia, genitourinary abnormality, and mental retardation (WAGR) syndrome.
Environ Mol Mutagen 1991
PMID:Molecular analysis of chromosomal rearrangements using pulsed field gel electrophoresis and somatic cell hybrids. 166 Aug 7

The offspring of mothers with untreated classic phenylketonuria (PKU) have shown a high frequency of microcephaly, mental retardation, pre- and postnatal growth retardation, and birth defects. The aim of this study was to determine whether phenylalanine (phe) is the teratogenic agent in maternal PKU. To observe the direct effects of phe on organogenesis, embryos of 9.5-day pregnant rats were cultured for 48 h in the presence of phe at concentrations of 0.1 to 6.0 mM. Within this range no morphological abnormalities occurred in exposed embryos, when compared to control embryos. However there was a reduction (P less than or equal to 0.05) in embryonic protein content and somite number at the highest concentration of phe (6.0 mM). This does not preclude the longer-term effects of phe at later stages of gestation. To examine phe transport into the embryo in response to elevated serum phe levels, 3H-phe uptake studies were undertaken. These showed that 3H-phe from the culture serum is incorporated rapidly into the free amino acid pools and embryonic protein. At serum concentrations of 1.4 mM or higher, phe saturation occurs in the cellular pools of the embryo. Amino acid analysis of the exocoelomic fluid showed that when embryos were cultured for 48 h in serum containing 3.45 mM phe, the total amino acid concentration was maintained near the control levels (16 mM). Of this, 27% (4.26 mM) was contributed by phe, and all other amino acids, except methionine, were decreased with respect to control levels.
Teratog Carcinog Mutagen 1984
PMID:The effects of phenylalanine on cultured rat embryos. 615 Dec 61

Aneuploidy is the most common class of chromosome abnormality in humans, occurring in at least 0.3% of newborns and approximately 50% of spontaneous abortions. Considered as a class, it is the most common known cause of mental retardation and the leading cause of pregnancy loss. Despite the high frequency of aneuploidy, its obvious clinical importance, its severe impact on human reproduction, and the 35 years of research since the first human chromosome abnormality was described, we still know very little about its causes, let alone the contribution of environmental exposures. Recently, however, with the advent of molecular and molecular cytogenetic techniques and advances in reproductive biology, a body of evidence has been generated that is beginning to shed light on the incidence, origin, and etiology of human aneuploid conditions. The bulk of this evidence comes from two sources: 1) studies of the incidence of aneuploidy in the cells of origin, namely oocytes and sperm; and 2) examinations of meiotic stage, parent of origin, and meiotic recombination in trisomic conceptuses, both liveborn and abortuses. Using a multicolor fluorescence in situ hybridization (FISH) approach, it is now possible to screen on extremely large number of human sperm to determine chromosome-specific rates of disomy. Likewise, because of the introduction in the past decade of in vitro fertilization technology, a population of human oocytes suitable for aneuploidy screening became available. The examination of the cells of origin of aneuploidy, the sperm and oocytes, has provided data on the incidence of chromosome aberrations and valuable insight into possible mechanisms of nondisjunction. Additionally, the recent identification of multiple, highly informative DNA polymorphisms on all human chromosomes has made the determination of parental origin and the analysis of recombination a straightforward matter. We now know that the vast majority of trisomic conceptuses are maternal in origin, that increased maternal age is associated with nondisjunction, and that the amount and position of recombination on nondisjoined chromosomes is altered. In this review we will restrict discussions to these recent developments and to new models of the mechanism(s) of human nondisjunction based on the molecular cytogenetic analyses. Additionally, we will discuss the direction of future epidemiological research made possible through the development of molecular and molecular cytogenetic techniques. These technological advances have now allowed for a systematic search for genetic and environmental components to human nondisjunction.
Environ Mol Mutagen 1995
PMID:Etiology of nondisjunction in humans. 778 61

A report of a study to analyze the effect of sociocultural patient characteristics (age, terminal diseases, drug abuse, alcoholism, mental retardation, dementia, suicide attempts, institutionalization, noncompliance with medical regimens, violent crimes, lack of support system, or relationship to a staff physician) on decisions to initiate or withhold cardiopulmonary resuscitation in an emergency situation. Pairs of vignettes were presented to residents in internal medicine and graduate students in an MBA program for comparisons of physicians' decisions with administrators' decisions. On some patient characteristics there were significant differences between the two groups. For most factors (drug abuse, multiple suicide attempts, age, violent crime, lack of known support systems, and relationship to staff), doctors are more likely to initiate CPR than are business students representing health care administrators. In chronic, long-term situations (carcinoma or heart disease, dementia, mental retardation, and institutionalization), the doctors are less likely to initiate CPR than the business students. If objectivity is a goal in deciding whether or not to initiate CPR, physicians should be aware of differences between their opinions and others'.
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PMID:Values and CPR decisions: a comparison of physicians and administrators in training. 1027 38