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)

From 1985 to 1989, analysis of the umbilical cord blood gas in 546 cases of cesarean section delivery under spinal anesthesia was carried out to evaluate its relationship with neonatal asphyxia, and the following results were obtained. (1) The UApH of a normal newborn with an Apgar score > 7 was 7.28 +/- 0.04. Acidosis occurred in 33.3% of the infants born with an Apgar score < 7, but the incidence was only 3.9% in those with an Apgar score > 7. Sixteen% of the acidosis was metabolic and 84% belonged to the mixed type. The UApH and Apgar scores were most significantly related. (2) The abnormal UVpH was 4.9% (< M - 2SD). (3) There was no significant difference in UApH between cesarean section performed before and after the onset of labor. (4) The short term morbidity included: one death, 2 cases of convulsions, 2 cases of cerebral edema, and one case of periventricular leukomalacia. (5) The long term morbidity in the 29 cases referred to NICU included: 18 cases of normal growth, 2 cases of severe cerebral palsy, 3 cases of mild cerebral palsy, and 6 cases of mental retardation. (6) In view of the long term morbidity of the newborn, as seen in the correlation between the Apgar score and UApH, it was considered that, the critical points in neonatal asphyxia were Apgar score < or = 3 and UApH < 7.10. My results suggested that the umbilical cord blood gas analysis was helpful for the diagnosis of neonatal asphyxia, and the prognosis of the newborn.
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PMID:[Evaluation of routine gas determinations in umbilical cord blood at cesarean section]. 842 48

Two sisters were presented, 16 years old and 12 years old, who showed similar clinical courses. They had had mental retardation since early childhood, and then ataxia began. They suffered from astatic and tonic seizures from early school age, which gradually evolved to intractable epilepsies. Spasticity progressed, and they deteriorated both physically and mentally. They revealed photo-sensitivity; convulsions were induced by the flickering of light. They were attacked by myoclonic seizures as well as choreoathetosis, and became bedridden by the latter part of the elementary school age. There were no fruitful results of any kind from the laboratory examinations for metabolic disorders. EEG showed that the epileptic seizure discharges were induced by photic stimulation; there were frequent 3-4 Hz diffuse spike-and-wave short bursts during waking and sleep periods. MRI findings of the elder sister at the age of 16 revealed remarkable diffuse brain atrophy. Gene analysis showed abnormally enlarged DNA fragments localized on the short arm of chromosome 12. This meant expanded CAG trinucleotide repeats. The younger sister died at the age of 12 years. Autopsy findings revealed degeneration of both dentatorubral and pallidoluysian pathways. There were especially remarkable gliosis and neuronal cell loss in the outer segment of globus pallidus, and moderate neuronal cell loss and typical grumose degeneration in the dentate nucleus. The diagnosis of juvenile-type hereditary dentatorubral-pallidoluysian atrophy was compatible with the pathologic findings. This diagnosis will be made possible before death through the understanding of the clinical symptoms and molecular genetics.
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PMID:[Sisters with early onset hereditary dentatorubral-pallidoluysian atrophy of childhood--DNA analysis and clinicopathological findings]. 853 13

We report two brothers with congenital total alopecia, mental retardation, childhood convulsions and hypergonadotropic hypogonadism. This association has not previously been reported and probably represents a new autosomal recessive condition.
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PMID:Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism. 872 64

PEHO syndrome is a rare progressive infantile encephalopathy, with variable age of onset of hypotonia, convulsions, mental retardation, oedema, and optic atrophy. Neuroimaging shows cerebellar and brainstem atrophy in most instances. A PEHO-like syndrome has been described in which those affected do not have the typical changes on neuroimaging. We report four new cases, two isolated cases and two sisters, who might be part of the PEHO-like syndrome.
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PMID:PEHO or PEHO-like syndrome? 872 64

Fifty-five infants who presented bacterial neonatal meningitis were prospectively studied to analyze the frequency and the type of sequelae. All the infants were full term newborns. There were 38 boys and 17 girls; the age of disease onset varied from 3 to 28 days. The causative organism was represented mainly by enterobacteriae. The median time of follow-up was 5 years. The frequency of neurologic sequelae was 63.7%, represented mainly by neuropsychomotor development delay (58.2%), hydrocephaly (45.5%) and convulsions (34.5%). Severe motor abnormalities ocurred in 23.6% of children (quadriplegia, diplegia, hemiparesia and ataxia). Convulsions in the acute phase of the disease and the positive cerebrospinal fluid culture were highly associated to sequelae. The school performance, obtained in 25 children, showed presence of disabilities in 48% of cases, which were significantly associated to mental retardation.
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PMID:[Neonatal bacterial meningitis: prospective study of the long-term outcome of 55 children]. 873 49

Tyrosinemia type 3, caused by a genetic deficiency of 4-hydroxyphenylpyruvic acid dioxygenase (HPD) in tyrosine catabolism, is characterized by convulsion, ataxia, and mental retardation. The III mouse is a model of tyrosinemia type 3. HPD activity and protein are defective in the liver and its blood tyrosine levels are elevated, the range being between 1,100 and 1,656 microM. We constructed a recombinant adenoviral vector bearing the human HPD cDNA (AdexCAGhHPD), which is expressed under the control of a potent CAG promoter. III mice were injected with 1.0 x 10(8) to 1.0 x 10(9) pfu of AdexCAGhHPD through the tail vein. When 3.0 x 10(8) - 1.0 x 10(9) pfu were injected, blood tyrosine levels decreased within 3 hr, reached a normal range (under 300 microM), and remained at a low level for 2-6 weeks. Hepatic HPD activities also increased as early as 3 hr after the injection of 5.0 x 10(8) pfu, reached the levels comparable to the control mice in 3-7 days, and then decreased, and correlated well to blood tyrosine. Hepatic HPD expression was confirmed by Northern blot and immunoblot analyses. Histology revealed no difference (gross or microscopic) between the liver injected with AdexCAGhHPD and the control. No significant changes in blood tyrosine levels were noted after the second injection of 5.0 x 10(8) pfu of AdexCAGhHPD. Thus, the intravenous administration of the adenoviral vector bearing a foreign gene seems suitable for transient, early gene transfer into the liver.
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PMID:In vivo correction with recombinant adenovirus of 4-hydroxyphenylpyruvic acid dioxygenase deficiencies in strain III mice. 898 96

A cohort of 92 children with an initial febrile convulsion (FC), prospectively identified in a community-based study 1985-1987, was compared with a cohort of 185 age- and sex-matched referents from the same study area. The median time of follow-up was 6.7 years (range: 5.7-7.7) and the median age at follow-up was 8.3 years (range 6.5-14). The cases had their first FC at a median age of 18 months (range 5-67 months), their second FC at 24 months (11-108 months) and their third FC at 26 months (13-92 months). FC recurred in 42% of the FC cohort, and 3.8% of the children in the referent cohort experienced FC. Single or recurrent afebrile seizures occurred in 4.3% and epilepsy in 3.3% of the FC cohort, while no afebrile seizures occurred in the referent cohort. The risk of having a sibling with FC was three times (95% confidence interval 1.3-6.2) higher in the FC cohort, while there was no difference between the cohorts in the risk of siblings developing afebrile seizures. There was no difference between the cohorts in the utilization of health services during the follow-up period. Two children in the FC cohort went to a school for the mentally retarded. There was no aetiological relationship between the FC and the mental retardation in these cases. All other children attended normal schools and none needed remedial instruction.
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PMID:A follow-up of an incident case-referent study of febrile convulsions seven years after the onset. 906 19

Forty-nine patients with cerebral palsy, mental retardation, or other congenital neurological disorders who had experienced febrile convulsions and had no previous nonfebrile seizures were presented. They were followed for 1.6 years to 15 years (mean: 6.8 years) after the initial febrile convulsion. The incidence of subsequent epilepsy (two or more afebrile seizures) was 39%, and 80% of them developed epilepsy within 2 years after the first febrile convulsion. The paroxysmal discharges on EEG recorded prior to or after the first febrile convulsion did not predict the occurrence of later epilepsy. Also under 3 years of age, EEG findings led to the same result. There was no definite evidence that administration of anticonvulsive drugs prevented later epilepsy. Pre-existing neurological abnormality was identified as a risk factor for epilepsy, and was an indication of persistent medication. There is no clear prophylactic procedure against long-lasting attacks. Accordingly, medical therapy can be started when epilepsy has developed. Patients with very severe brain damage who could not move except lying comprised only 6% of all cases, and 69% of the epilepsy patients were well controlled. They showed a good prognosis as compared with children with brain-damage in general with epilepsy.
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PMID:[The clinical study of the first febrile convulsion in children with brain-damage]. 914 28

We report on a new autosomal-recessive syndrome in 4 Japanese children in 2 families. The key manifestations are Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, metabolic acidosis, and autosomal-recessive inheritance. There were no consanguineous marriages. Abnormal eye movements were noticed neonatally, and ophthalmological examinations showed no visual acuity, pigmentary retinal degeneration, and nonrecordable electroretinograms in all cases. Inadequate weight gain and short stature gradually became apparent after birth, and at present the height range is -4.6 - -7.2 SD (standard deviations). Developmental delay was noted at age 4 months, and the developmental quotient is 50-70 at present. Deterioration of development and convulsions were not recognized. Elevated serum aminotransferase levels and metabolic acidosis were also found at age 4 months. Proximal renal tubular acidosis was clarified by bicarbonate tolerance tests in 1 case, and may have caused metabolic acidosis. Growth hormone secretion was insufficient by insulin tolerance test in 3 cases. One year of growth hormone therapy in 2 cases did not affect growth velocity. Hepatic dysfunction and metabolic acidosis ameliorated later. No renal cysts were found. A cranial computed tomographic scan and magnetic resonance imaging showed normal findings. Amino acids, organic acids, and very long chain fatty acid levels in plasma were all normal in the 3 cases examined. Histopathological and mitochondrial DNA analyses showed no evidence of mitochondrial disorders.
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PMID:New autosomal-recessive syndrome of Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis. 926 92

The combination of X-linked mental retardation (XLMR) and neurological disorders occurs in a number of syndromes. Differential diagnosis mostly depends on clinical data and mapping of responsible genes by linkage analysis. We present a Belgian family with severe XLMR and a progressive neurological disorder with ataxia, spasticity and convulsions. Biochemical investigations, neuroimaging and neuropathology were normal. Linkage analysis pointed to region Xq27-28 as the probable locus for the genetic defect. The sequence of the L1CAM cDNA, a possible candidate gene, proved to be normal in the patients. This suggests the presence of a genetic factor on Xq27-28, different from L1CAM, which can lead to severe XLMR and a progressive neurological disorder.
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PMID:X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies. 937 4


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