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)

This is the fifth family in the literature with siblings having the prune belly syndrome. It is the first with associated pulmonary stenosis, mental retardation, and hearing deficit. A genetic factor is suggested as the primary cause of the syndrome.
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PMID:Siblings with prune belly syndrome and associated pulmonic stenosis, mental retardation, and deafness. 15 83

Ring X chromosomes that lack the X inactivation center and fail to be inactivated have been implicated as a cause of mental retardation and multiple congenital anomalies. We report on a stillborn fetus with karyotype mos45,X/46,X,r(X) and early urethral obstruction or prune-belly sequence, single umbilical artery, limb deficiency, horseshoe kidney, cardiac hypertrophy, persistent left superior vena cava, and axial skeleton abnormalities. Fluorescent in situ hydridization (FISH) studies confirmed that the ring chromosome is X-derived and demonstrated that it lacks the XIST locus. The findings in this fetus are discussed with regard to the spectrum of phenotypes associated with monosomy X and small ring X chromosomes.
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PMID:Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST. 912 38

VATER "association" is a common condition, with the diagnosis typically based on a characteristic constellation of congenital anomalies. Reported long-term follow-up information on VATER association is limited, thus making it difficult to prognosticate the future of infants and children with this condition. Further, there are few data on how often the initial diagnosis of VATER association is correct. Some information has been published on growth deficiency and mental retardation, but these data are minimal [Bull et al., 1985; Mapstone et al., 1986; Weaver et al., 1986] and for the most part look at children under the age of 10 years. We have undertaken a long-term follow-up of individuals with VATER association originally reported by Weaver et al. [1986] or diagnosed with VATER association by his associates and him after 1986. Out of the 50 patients, we were able to contact 20 individuals or families. Two of the 20 individuals had died: 1 at 3 days with cardiac failure due to a truncus arteriosus, and 1 at 4 years of unspecified cause. Two were unwilling to participate. Of the rest, we interviewed and examined seven persons, and interviewed another nine by telephone. Of the 16, 5 had some degree of cognitive impairment. These individuals were more likely to have congenital anomalies outside of the typical scope of VATER association, such as prune belly sequence or findings of CHARGE association. Of the nine individuals with a history of imperforate anus, five had partial or complete incontinence as adults leading to difficulties in maintaining employment. Height was at the 5th centile or less in 6 of 16 patients. Three of four patients who were trying to have children, had infertility. In two women, the infertility was thought to be related to congenital anomalies of the genitourinary system and multiple pelvic operations. We also present the long-term medical and neurologic problems in these individuals.
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PMID:Adults with VATER association: long-term prognosis. 1615 41

Colonic volvulus is a rare disease in children. Delayed diagnosis of the condition can often be fatal, especially in pediatric patients with mental retardation. We herein present the case of a female pediatric patient with colonic volvulus, prune belly syndrome, and mental retardation. Preoperative CT scans showed the characteristic signs of this disease. The volvulus occurred in the proximal colon of the colostomy. The release of the colonic volvulus and reconstruction of the colostomy were performed without the resection of the ischemic colon. The postoperative clinical course was uneventful.
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PMID:Colonic volvulus detected by CT scan in a case with mental retardation and prune belly syndrome. 2246 36

Fragile X syndrome (FXS), the most common cause of inherited human mental retardation, results from the loss of function of fragile X mental retardation protein (FMRP). To date, most researchers have thought that FXS neural pathologies are primarily caused by extreme dendritic branching and spine formation. With this rationale, several researchers attempted to prune dendritic branches and reduce the number of spines in FXS animal models. We propose that increased dendritic arborization and spinogenesis in FXS are developed rather as secondary compensatory responses to counteract the compromised postsynaptic activity during uncontrollable metabotropic glutamate receptor (mGluR)-dependent long-term depression (LTD). When postsynaptic and electrical activities become dampened in FXS, dendritic trees can increase their sensitivity to brain-derived neurotrophic factor (BDNF) by using the molecular sensor called eukaryotic elongation factor 2 (eEF2) and taking advantage of the tight coupling of mGluR and BDNF-TrkB signaling pathways. Then, this activity-dependent elevation of the BDNF signaling can strategically alter dendritic morphologies to foster branching and develop spine structures in order to improve the postsynaptic response in FXS. Our model suggests a new therapeutic rationale for FXS: correcting the postsynaptic and electrical activity first, and then repairing structural abnormalities of dendrites. Then, it may be possible to successfully fix the dendritic morphologies without affecting the survival of neurons. Our theory may also be generalized to explain aberrant dendritic structures observed in other neurobehavioral diseases, such as tuberous sclerosis, Rett syndrome, schizophrenia, and channelopathies, which accompany high postsynaptic and electrical activity.
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PMID:Activity-dependent alterations in the sensitivity to BDNF-TrkB signaling may promote excessive dendritic arborization and spinogenesis in fragile X syndrome in order to compensate for compromised postsynaptic activity. 2511 67