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

Twenty-seven infants with cytomegalovirus hepatitis were followed up for 15-40 months after onset of the illness. They had recovered from the hepatitis, but microcephaly was present in 2 (7.4%), sensorineural hearing loss in 5 (18.5%), quadriplegia, mental retardation, ventricular septal defect and tooth defects in 1 (3.7%) each. The patients with congenital infection had more severe and complex defects, some with perinatal infection had mild defects, those with postnatally acquired infection had no sequelae. The mean MDI and frequency of expressive language delay in the former group differed significantly from those of the other 2. Five patients still excreted cytomegalovirus in the urine at follow-up.
 ...
PMID:Effects of cytomegalovirus hepatitis on growth, development and nervous system of infants. A follow-up study. 165 27

Dystrophin is normally expressed in a number of tissues including muscle, brain and the outer plexiform layer of the retina. In Duchenne and Becker muscular dystrophy abnormal or deficient dystrophin expression leads to muscle degeneration and has been implicated in mental retardation and a form of night blindness. We have examined the expression of dystrophin immunoreactivity in cochlear tissues of normal guinea-pig and mouse, and whether expression is perturbed in the cochlea of the dystrophic MDX mouse. A single band of approximately 427 kDa, corresponding to a full-length isoform of dystrophin was detected in guinea-pig and normal mouse but was absent from the MDX mouse. Cochleae from guinea-pig, normal and MDX mouse also showed a second dystrophin isoform of 116 kDa molecular weight with the C-terminal specific antibody. Immunostained guinea pig cochlear half turns were examined by laser scanning confocal microscopy. Dystrophin was localized in both inner and outer hair cells with staining patterns which were qualitatively similar with both antibodies. In the outer hair cells labelling of the lateral wall was especially distinctive. The synaptic region of both hair cell types was also strongly labelled.
 ...
PMID:Dystrophin expression in the hair cells of the cochlea. 759 70

Anticipation describes an inheritance pattern within a pedigree with an increase in disease severity and/or decrease in age at onset in successive generations. The phenomenon of anticipation has recently been shown to be correlated with the expansion of trinucleotide repeat sequences in a neuromuscular disease, various neurodegenerative disorders and mental retardation. We have studied parent-offspring differences in age at onset and disease severity in 31 pairs with unilineal inheritance of unipolar affective disorder (UPAD). Life-table analyses showed a significant decrease in survival to 1st episode of major depression in the offspring generation compared with the parental generation (P = 0.0007). There was also a significant difference in age at onset (P < 0.001) between parents and offsprings. The offspring generation experienced onset 15.6 years earlier and illness 1.5 x more severe than did the parent generation. Furthermore, there was a significant correlation (P < 0.05) in age at onset between parent and offspring generations. When we excluded pairs where the affected parent has an age of onset greater than the age of the child at the time of ascertainment (i.e., 23 pairs left), there was still a significant (P = 0.02) decrease in age at onset (8.4 years) and 1.5 x more severe disease in the offspring generation. No evidence for specific maternal or paternal inheritance was found. We found evidence of anticipation in 75-80% of this sample of unilineal family pairs of UPAD. Anticipation is, thus, an inheritance pattern in a large group of UPAD which suggests that the expansion of trinucleotide repeat sequences is a possible mode of inheritance in this group of UPAD. The findings of anticipation in this study of families with UPAD and previous findings in families with BPAD suggest that the variable expression of unstable expansions of trinucleotide repeats may turn out to be the basis of the continuum of liability in affective disorders.
 ...
PMID:Anticipation in unipolar affective disorder. 855 85

This study focuses on the early temperamental (TTQ = toddler temperament questionnaire), behavioral (IBR = infant behavior record), and cognitive precursors of impaired language functioning in preschool-age pre-terms infants. The study group consisted of 63 pre-term infants with a mean birth weight of 1246 +/- 437 g born in 1989-1991 in the University Central Hospital of Helsinki. Children with major disabilities (CP or mental retardation) were excluded. At the age of 4 years, 22% showed impaired language function. Logistic regression analysis showed that the Bayley MDI score was the best predictor in identifying an increased risk for language impairment. Behavioral characteristics were more strongly associated with subsequent language impairment than temperament.
 ...
PMID:Cognitive development, temperament and behavior at 2 years as indicative of language development at 4 years in pre-term infants. 1122 91