Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Previous studies have shown that approximately 80% of patients with X-linked ichthyosis have a total deletion of the steroid sulphatase (STS) locus which lies in Xp22.3-Xpter. We show by Southern analysis that a common core of sequences are absent in 78.6% of our cases, suggesting that the deletion breakpoints may be highly clustered. To characterize the region in more detail a long-range physical map of over 3 megabases (Mb) surrounding the STS locus was constructed using pulse-field gel electrophoresis. The map enabled the order of sequences tel-SI19-GMGXY3-[STS,GMGXY19]-GMGX9-[dic56 ,SIII2]-cen and the localization of the deletion breakpoints to be established. In ten cases the pulse-field evidence supports the clustering of breakpoints and indicates a deletion size of 2 Mb in most patients. Five CpG islands have been positioned around the STS locus and may be associated with other loci in the region involved in mental retardation and Kallman's syndrome. The map will be instrumental in an attempt to isolate and characterize the deletion breakpoints and to access other genes located in the region.
Proc Biol Sci 1990 Dec 22
PMID:Physical mapping of deletion breakpoints in patients with X-linked ichthyosis: evidence for clustering of distal and proximal breakpoints. 198 39

Newborn screening for inborn errors of metabolism is an established practice that has shown its value in preventing the morbidity, mortality, and mental retardation that ravage the child suffering from an inherited disorder of intermediary metabolism. The American Academy of Pediatrics has taken a strong stand supporting newborn screening for PKU and hypothyroidism for all newborns and has repeatedly stressed the need for such screening to be part of an integrated program that incorporates screening, diagnosis, management, and support. As we enter the 21st century, the challenges of maintaining excellence in existing programs, developing new screening tests, and assuring optimal follow-up and management must be met for all children.
Semin Perinatol 1990 Dec
PMID:Neonatal screening for inborn errors of metabolism: update. 207 63

A new syndrome of congenital cataract, hearing loss, hypercholesterolemia, spasticity of the lower extremities, and perhaps mental retardation, is described. Manifestation in two brothers with no other affected family members suggests an autosomal recessive pattern of inheritance. A discussion of the differential diagnosis of oculo-auditory syndromes is presented.
Acta Ophthalmol (Copenh) 1990 Dec
PMID:Cataract, hearing loss and hypercholesterolemia. 208 Jul 9

Fetal alcohol syndrome (FAS) is a major known cause of fetal malformations and mental retardation. Prevention/intervention of FAS can only be achieved with identification of the mechanisms by which alcohol induces birth defects. The purpose of this paper is to discuss the data on possible mechanisms of FAS, and to give a number of suggestions for future research areas.
Alcohol Clin Exp Res 1990 Dec
PMID:Perspectives on the pathophysiology of fetal alcohol syndrome. 208 15

Two unrelated cases of single maxillary central incisor (SM-CI) with 7q terminal deletion of the same breakpoint at 7q36.1 were described. They had mental retardation, microcephaly, hypotelorism, short stature, and normal levels of plasma growth hormone. One case had bilateral caudal ectopic kidneys, double renal pelves, and dilated ureters. The other had bilateral hydroureteronephrosis. The present cases suggest that 7q terminal deletion is one of the causes of SMCI.
Jinrui Idengaku Zasshi 1990 Dec
PMID:Two unrelated cases of single maxillary central incisor with 7q terminal deletion. 209 80

Variable angle strabismus can be inward (esotropy) or outward (exotropy) or vary from esotropy to exotropy. Mental retardation has been found to be related to strabismus in 50% or more of the cases and 35% of these had variable angle strabismus. A total of 61 patients with variable angle strabismus were studied finding 55.7% with esotropy, 36% exotropy and 8.2% varying from esotropy to exotropy. Of those under study, 64% were females and 77% under five years old. No accommodative factors were found in any of the patients. The best results were obtained through surgery (recession plus Faden) previous rehabilitation.
Bol Med Hosp Infant Mex 1990 Dec
PMID:[Variable angle strabismus and its relation to poor vision and psychomotor retardation]. 209 36

Based on recent studies of neuroimmune networks, the lymphocyte binding of serotonin neurotransmitter was studied in patients with Alzheimer's disease, idiopathic mental retardation, and autism. The specific binding to lymphocytes of [3H]serotonin, at a single concentration of 100 nM, was significantly reduced in Alzheimer's disease patients as compared to aged controls (group mean of 3.667 +/- 2.301 v 7.506 +/- 1.717 picomoles; p = 0.001), and in children with idiopathic mental retardation as compared to healthy children (group mean of 3.694 +/- 1.627 v 5.792 +/- 1.902 picomoles; p = 0.003). However, autistic children did not differ significantly from the healthy children (group mean of 5.287 +/- 1.987 v 5.792 +/- 1.902 picomoles; p = 0.475). Reduced lymphocyte binding of serotonin may be an indication of breakdown of an unknown neuroimmune pathway relevant to the pathophysiology of Alzheimer's disease and idiopathic mental retardation.
Mol Chem Neuropathol 1990 Dec
PMID:Binding of [3H]serotonin to lymphocytes in patients with neuropsychiatric disorders. 209 81

The toxicities of many metals, such as mercury and lead, are known to man since the dawn of civilization. Organic compounds of some heavy metals are known to have a particular toxic impact on the central nervous system. Organomercury, particularly alkyl-mercuric compounds (e.g. methylmercury), has a selective effect on the granule cells of the cerebellum, the nerve cells of the calcarine cortex, and the sensory neurons in the dorsal root ganglia. The well known Minamata Bay disease is the result of a massive epidemic episode of human exposure to alkylmercury contaminated food sources. Mental retardation and other developmental defects are also known to be a consequence of exposure to this toxic metal. Organic lead compounds have been employed as gasoline additives and in other industrial purposes. Unlike its inorganic counterpart, organolead compounds have a more prominent impact on the central nervous system. Pathological changes of the brain stem neurons have been described. Organotin compounds have been used in plastic industries and as agricultural chemicals. Both trimethyl and triethyl tin compounds are found to be extremely neurotoxic. Despite the similarity of their chemical structures, trimethyl and triethyl tins have a diversely different toxic property and effects. While triethyl tin is myelinotoxic, producing edematous and vacuolar changes in the central myelin, trimethyl tin is neurotoxic, producing prominent toxic changes in the neurons of the limbic system (hippocampus, entorhinal cortex, etc.). The factors which determine the specificity and selectivity of the neurotoxic impacts by various organometals are still unknown. In view that most of the organometals are still widely employed by many countries for industrial and for agricultural purposes, caution must be made for their proper handling and disposure to avoid undesirable exposures to workers and environmental contamination of water sources and food-chain for the common public. Since organometals are difficult to eliminate from the central nervous system, injuries usually lead to permanent neurological deficits, such tragedies are frequently long lasting and create not only a medical problem, but also a social economical problem for the society.
J Toxicol Sci 1990 Dec
PMID:The neurotoxicology and pathology of organomercury, organolead, and organotin. 210 Mar 18

Changes in the size and type of operation of residential facilities for persons with mental retardation in the United States over the past 2 decades were discussed and current (June 30, 1988) interstate variability in residential services along these same dimensions examined. Considerable progress was noted nationally in securing relatively small, community-based residential opportunities for persons with mental retardation. However, this progress has not been uniformly realized in all states or for all types of facilities. Standards for federal policy that would make the official national commitment to community-based services more consistent among all the states were considered.
Ment Retard 1990 Dec
PMID:Longitudinal change and interstate variability in the size of residential facilities for persons with mental retardation. 212 67

A 31-year-old woman with mental retardation who demonstrated total food refusal as the symptom of a conversion disorder was successfully treated with behavioural management techniques. The treatment utilized a shaping paradigm combined with relaxation procedures. The results supported the hypothesis that conversion disorder symptoms are maintained through their consequences, and the efficacy of behavioural treatments for those disorders.
J Ment Defic Res 1990 Dec
PMID:Behavioural treatment of a food refusal conversion disorder in a mentally retarded adult. 212 7


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