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

Disialotransferrin developmental deficiency (DDD) syndrome is a recently described disease consisting of hepatopathy, mental retardation and neuropathy. The biochemical findings indicate a defect in the assembly of the carbohydrate moiety that is common to the secretory glucoproteins. It is believed to be of autosomal recessive inheritance. An ophthalmological examination of ten children suffering from this syndrome showed that all had ocular involvement. Esotropia (and deficient abduction) was found in all ten patients. Seven children had retinitis pigmentosa which was verified by an ERG in three. One patient had retinal signs suggestive of retinitis pigmentosa. The high incidence of ocular findings in the DDD syndrome, which are reported for the first time, indicate that an ophthalmological examination is a helpful diagnostic tool in this disease.
Ophthalmic Paediatr Genet 1990 Dec
PMID:Ocular pathology in disialotransferrin developmental deficiency syndrome. 171 Jul 98

Fragile X [fraX] syndrome is a common hereditary disorder associated with a fragile site marker at Xq27.3 which clinically presents as a form of mental retardation (MR). Postmortem investigation of 3 fraX positive males with mild to moderate MR did not document any gross neuropathological changes. Golgi analysis of neocortical dendritic spine morphology extended our previous observations of immature, long, tortuous spines in one adult case of fraX (Rudelli, et al., Acta Neuropathologica 67:289-295, 1985) to 2 new cases. Evidence for similar dendritic spine abnormalities was found, although Golgi analysis was less than optimal because of incomplete dendritic stain impregnation. Neocortical intra-layer cell density was also investigated in all 3 cases. Cresyl violet stained neurons were counted in 10 randomly selected fields in neocortical layers II-VI of cingulate and temporal association areas (Brodmann's areas 23 and 38). Neuron counts in fraX and control neocortex showed no significant differences. Thus, abnormal dendritic spine morphology with preservation of neuronal density appears to characterize the neocortex in individuals with this common form of mental retardation.
Am J Med Genet 1991 Dec 01
PMID:Analysis of neocortex in three males with the fragile X syndrome. 172 12

We report on 2 sisters, 3 and 6 years old, with a possible new syndrome consisting of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia. This disorder closely resembles the Coffin-Siris syndrome (McKusick number 135900). We describe the difficulties in achieving a diagnosis. A major diagnostic clue was the radiological recognition of hypoplasia/aplasia of the terminal phalanx of the 5th finger. Minor facial anomalies and mental retardation alone had not led to the proper diagnosis. Still, several diagnostic possibilities remain. For unknown reasons both children have an increased level of serum alkaline phosphatase activity.
Am J Med Genet 1991 Dec 01
PMID:Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. 172 13

Mental retardation caused by congenital deficiency of thyroid hormones can be prevented by early diagnosis and therapy which are assured by neonatal thyroid screening. Congenital hypothyroidism screening is performed in Italy by regional centres which in 1989 have screened more than 82% of neonatal population. Since 1987 a National Register of children affected by CH has been instituted. The results of the analysis of data collected in the first three years are reported.
Thyroidology 1990 Dec
PMID:Three years of experience of the congenital hypothyroidism National Register. 172 14

We recently reported a new X-linked mental retardation (XLMR) disorder in a four-generation family of Dutch descent. Features included Dandy-Walker malformation, basal ganglia disease, and seizures. Twenty-six family members, including two living affected males and two obligate carriers, were available for study. No evidence of linkage was observed between the disease locus and RFLPs from several X-chromosome regions, including Xp21-p22 (13 markers), proximal Xq (four markers), and Xq28 (three markers). However, a new hypervariable short tandem repeat (STR) within the HPRT gene at Xq26 showed positive linkage to the disease locus, with a maximum lod score of 2.19 at a recombination fraction of 0. A second hypervariable marker in Xq26, the dinucleotide repeat XL90A3 (DXS425), showed a lod score of .84 at a recombination fraction of .11. Both the HPRT and DXS425 markers were typed in 40 CEPH families, and subsequent multipoint linkage analysis showed the following order: Xcen-DXS425-(HPRT,XLMR)-F9-qter. HPRT and these flanking markers are therefore useful for carrier detection and prenatal diagnosis in this family. This study illustrates that hypervariable STRs will be powerful tools for linkage analysis and genetic diagnosis, particularly when relatively small families are involved.
Am J Hum Genet 1991 Dec
PMID:Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26). 174 58

We have studied the patterns of mutation and X inactivation in female carriers of a fragile X mutation, to try to correlate them with various phenotypic features. We used a simple assay, which shows simultaneously the size of the mutation, its methylation status, and DNA fragments that represent the normal active and inactive X chromosomes. We have observed an age dependent process, whereby the 'full' fragile X mutation is found preferentially on the inactive X in leucocytes in adult females, but not in younger ones. This phenomenon was not observed in female carriers of a 'premutation', who have little phenotypic expression. Preliminary data suggest that young females who show preferential presence of a full mutation on the active X in leucocytes may be at increased risk for mental retardation. We have also obtained preliminary evidence for an age dependent decrease in the somatic heterogeneity of full mutations, possibly owing to selection for smaller mutated fragments. If confirmed, the latter phenomenon might account for the known decrease with age of the expression of the fragile site. Our observations suggest that a gene whose expression is affected by the presence of a full mutation (possibly the FMR-1 gene) has a cell autonomous function in leucocytes, leading to a slowly progressive selection for cells where the mutation is on the inactive X chromosome.
J Med Genet 1991 Dec
PMID:Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation. 175 58

Three cases of arteriovenous malformations of the vein of Galen were operated on without mortality and morbidity. Postoperative angiography confirmed total occlusion of the fistulas in each case. Microsurgical operation in the parieto-occipital region with interhemispheric approach was performed to cut the numerous feeders. The procedure was terminated when the sac was diminished in size with bipolar coagulation and clipped with encircling clips to preserve the flow through the vein of Galen. In spite of the good surgical results, the long-term outcome in the two pediatric patients was discouraging because of mental retardation caused by the arteriovenous malformation itself.
Surg Neurol 1991 Dec
PMID:Arteriovenous malformations of the vein of Galen: report of three microsurgically treated cases. 175 88

Fragile X syndrome results from mutations in a (CGG)n repeat found in the coding sequence of the FMR-1 gene. Analysis of length variation in this region in normal individuals shows a range of allele sizes varying from a low of 6 to a high of 54 repeats. Premutations showing no phenotypic effect in fragile X families range in size from 52 to over 200 repeats. All alleles with greater than 52 repeats, including those identified in a normal family, are meiotically unstable with a mutation frequency of one, while 75 meioses of alleles of 46 repeats and below have shown no mutation. Premutation alleles are also mitotically unstable as mosaicism is observed. The risk of expansion during oogenesis to the full mutation associated with mental retardation increases with the number of repeats, and this variation in risk accounts for the Sherman paradox.
Cell 1991 Dec 20
PMID:Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. 176 Aug 38

We report the case of a fourteen years six months old girl with features of the Cohen-syndrome. The patient shows all main symptoms of this entity: characteristic craniofacial appearance, truncal obesity, mental retardation, microcephaly, short stature and limb anomalies.
Monatsschr Kinderheilkd 1991 Dec
PMID:[Cohen syndrome. Personal case report and literature review]. 177 Sep 62

The Galt Visiting Scholar in Public Mental Health program was developed in Virginia to strengthen the relationships between the Virginia Department of Mental Health, Mental Retardation, and Substance Abuse Services and the Commonwealth's three medical schools. We describe the development and evolution of this program and its accomplishments to date. Despite significant accomplishments, many of the key recommendations of previous Galt Scholars have not been enacted. The Galt Scholar approach of a consultant model is discussed and analyzed structurally using consultation theory. This analysis demonstrates both the potentials and limits of consultant models of state-university collaboration.
Community Ment Health J 1991 Dec
PMID:The Galt Visiting Scholar in Public Mental Health: a review of a model of state-university collaboration. 177 2


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