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)

A 3-year-old boy with mixed glomerular/tubular proteinuria, mental retardation, and hyperkinesis is described. The proteinuria was discovered at the age of 3 years on urinary mass screening. Most of the urinary protein consisted of albumin, accompanied by increases in low molecular weight proteins, including beta 2-microglobulin and alpha 1-microglobulin. Mixed glomerular/tubular proteinuria is known to be caused by the following conditions: chronic renal failure, chronic pyelonephritis, cadmium poisoning, tubulointerstitial nephritis of various etiologies, and after strenuous, short-term, exhaustive exercise. The present patient did not display any of these disorders or conditions.
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PMID:Glomerular/tubular mixed-type proteinuria in a 3-year-old boy with mental retardation and hyperkinesis. 147 31

To characterize the energy metabolism in individuals with mental retardation (MRs), we measured energy cost at several physical activity levels (basal, supine, sitting, standing, and walking at 30, 50 and 70 m/min), maximal oxygen consumption (Vo2max), and body composition in 23 male MRs and the same number of volunteer male controls. Both groups were individually matched for age, body height, and body weight. Energy cost was measured by the Douglas bag technique. The recently developed sulfur hexafluoride (SF6) dilution technique was employed for measuring body composition. In addition, 3-dimensional accelerometry was used for evaluating body movements, and plasma indices of macronutrients were also measured. The energy cost of MRs, when sitting, standing, and walking at 30 and 50 m/min, was significantly higher than that of controls (p < 0.05), while the basal and resting metabolic rates were similar in both groups. Vo2max was significantly lower (p < 0.05) in MRs than controls. Accelerometry demonstrated excessive movement by MRs, which may explain their higher energy cost of exercise. In contrast, no significant difference was observed in percent body fat or lean body mass. Concentrations of plasma total cholesterol, triacylglycerols and albumin were significantly lower in MRs as compared with the controls. Our findings suggest that MRs are burdened with an energy metabolism less economical than non-MRs. Limited physical activity in their daily life may be the cause. These characteristics of MRs' energy metabolism should be considered for planning their proper dietary schedules and physical activity programs.
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PMID:Characteristics of energy metabolism in males with mental retardation. 959 Dec 42

As shown in the first part of this review, well equilibrated neurotransmission in which 5-HT plays a dominant role is important for proper neuromodulation and adjustment of neuronal network elements. Adequate 5-HT system function supports regulation of intercommunicative neuronal transmission in the brain, which optimizes behavioral neuromodulation during and after different forms of exertions, thereby preventing transient dysregulation. Impairment of neuromodulation and neuronal network in the brain with transient dysfunctions or permanent substantial deficits at manifestation of various types of depression results from prevalent impairment of 5-HT neurotransmission and its central interaction with other neurotransmitter systems. Exercise-induced increase of free tryptophan (TRP) in blood occurs due to liberation from albumin, which is caused by adrenergically induced lipolysis of free fatty acids and results in higher free TRP uptake into the brain. Consecutively enhanced serotonin (5-HT) biosynthesis does not per se initiate mood impairment or central fatigue. It is suggested that in overtrained athletes central fatigue, mental deficiency and behavioral alterations with depressive mood are probably not primarily caused by metabolic and neuromuscular alterations. The primary trigger of these transient behavioural alterations might instead be initiated by a central exhaustive exercise stress which elicits impairment of complex neuromodulation, also afflicting the interaction of central neurotransmitters or hypothalamic neuropeptides and releasing factors. In a consecutive correction of the variation, the implication of the serotonergic system on the central neuromodular disturbance might improve or prevent the progressive course both in transient and in permanent mental disorders. However, an unsuccessful attempt to improve the depressive symptomatology leads mostly to an overproportional exaggeration of the behavioral changes.
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PMID:Physiology and pathophysiology of the serotonergic system and its implications on mental and physical performance. Part II. 1159 Apr 75

Malformations of cortical development (MCD) result from abnormal neuronal positioning during corticogenesis. MCD are believed to be the morphological and perhaps physiological bases of several neurological diseases, spanning from mental retardation to autism and epilepsy. In view of the fact that during development, an appropriate blood supply is necessary to drive organogenesis in other organs, we hypothesized that vasculogenesis plays an important role in brain development and that E15 exposure in rats to the angiogenesis inhibitor thalidomide would cause postnatal MCD. Our results demonstrate that thalidomide inhibits angiogenesis in vitro at concentrations that result in significant morphological alterations in cortical and hippocampal regions of rats prenatally exposed to this vasculotoxin. Abnormal neuronal development was associated with vascular malformations and a leaky blood-brain barrier. Protein extravasation and uptake of fluorescent albumin by neurons, but not glia, was commonly associated with abnormal cortical development. Neuronal hyperexcitability was also a hallmark of these abnormal cortical regions. Our results suggest that prenatal vasculogenesis is required to support normal neuronal migration and maturation. Altering this process leads to failure of normal cerebrovascular development and may have a profound implication for CNS maturation.
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PMID:Prenatal exposure to thalidomide, altered vasculogenesis, and CNS malformations. 1685 33