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Biomedical subjects

J U Crichton

Publications and source records attributed to J U Crichton.

At least 19 recordsLinked to original sources
PubMed1995

Hydrocephalus, mineralizing angiopathy, hypercholesterolemia, and hyperlipoprotein (a).

A boy born at 34 weeks gestation with initially normal development presented with acute hydrocephalus at 22 months. Subsequently his development has been slow and complicated clinically by epilepsy. Upon extensive investigation, he has been found to have extremely elevated lipoprotein(a) levels, hypercholesterolemia (familial), and lesions of the cortex and meninges. Radiologic studies have disclosed a mineralizing angiopathy.

Acute Disease↗
PubMed1995

The life-expectancy of persons with cerebral palsy.

Survival rates for persons with cerebral palsy were calculated using information from a population-based registry which has been collecting data since 1952. The 30-year survival rate approximates 87 per cent. Adverse factors affecting survival are the type of cerebral palsy (spastic quadriplegia having the worst prognosis), epilepsy and severe or profound mental retardation. The length of time over which the data were collected precludes estimating survival time beyond 30 years.

Adolescent↗
PubMed1988

Cerebrospinal fluid values for monoamine metabolites, gamma-aminobutyric acid, and other amino compounds in Rett syndrome.

We measured concentrations of 3-methoxy-4-hydroxy-phenylglycol, 3,4-dihydroxyphenylacetic acid, homovanillic acid, and 5-hydroxyindoleacetic acid--the metabolites of noradrenaline, dopamine, and serotonin used as central neurotransmitters--in the cerebrospinal fluid (CSF) specimens of five girls with Rett syndrome. These patients met the clinical criteria for both inclusion and exclusion of the diagnosis of Rett syndrome. In contrast to previous reports, cerebral monoamine metabolites were present in normal concentrations in CSF. In addition, concentrations of gamma-aminobutyric acid and of a large number of other amino acids and related compounds were normal in the CSF of patients with the syndrome. We doubt that an underlying biochemical cause for this disorder has yet been discovered.

Adolescent↗
PubMed1985

Hallervorden-Spatz disease: cysteine accumulation and cysteine dioxygenase deficiency in the globus pallidus.

We describe neurochemical abnormalities found in the brains of 2 patients with autopsy-confirmed Hallervorden-Spatz (HS) disease. In 1 patient, contents of cystine and of glutathione-cysteine mixed disulfide in the globus pallidus were markedly elevated above values for appropriate control subjects. Activity of cysteine dioxygenase, which converts cysteine to cysteine sulfinic acid, was reduced in the globus pallidus, but normal in the frontal cortex and putamen of both patients. gamma-Aminobutyric acid content was markedly decreased in the globus pallidus and substantia nigra of both patients. These results suggest that cysteine accumulates locally in the globus pallidus in Hallervorden-Spatz disease as a result of an enzymatic block in the metabolic pathway from cysteine to taurine. Accumulated cysteine may chelate iron, accounting for the local increase in iron content in Hallervorden-Spatz disease. The combined excess of cysteine and ferrous iron may generate free radicals that damage neuronal membranes to cause the typical morphological changes observed in this disorder.

Adult↗
PubMed1983

Argininosuccinic aciduria. A developmental and biochemical case study.

An infant with argininosuccinic aciduria was detected through the routine newborn screening program for inborn metabolic diseases and has been followed for over 7 years. Treatment consisting of restricted protein intake and arginine base supplementation was initiated at the age of 8 months and was continued intermittently. She maintained normal psychomotor development to the age of 3 years and currently at the age of 7.3 years, she has measured intelligence in the borderline range. She has had mild symptoms of cerebellar ataxia. Her physical growth has been below normal. Biochemical abnormalities are described. Special metabolic investigations and the effects of treatment are discussed.

Amino Acid Metabolism, Inborn Errors↗
PubMed1981

Fibromatosis of dura presenting as infantile spasms.

A 6-month-old boy developed emprosthotonic infantile spasms and right hemiparesis. CT scan revealed a large mass related to a distended right temporal horn which on craniotomy proved to be a hard white tumour of the tentorium cerebelli which could be only incompletely resected. Microscopically and ultrastructurally, this lesion proved to be a typical fibromatosis containing myofibroblasts which invaded the brain. The child made an excellent recovery and is well a year after surgery. This case is another example which argues for full investigation of cases of infantile spasms which usually carry such a dismal prognosis.

Cerebellar Neoplasms↗
PubMed1980

Neurological, psychological and educational sequelae of low birth weight.

In a prospective study of 501 infants of low birth weight (LBW) who mostly weighed 2,041 g (4 1/2 lb) or less, and of 203 control infants of full birth weight (FBW > 2,500 g), 335 LBW and 139 FBW children were followed beyond the age of 6 years and 6 months. The incidence of neurological defects was negatively correlated with birth weight, and the mean "global" IQ of different birth weight groups retained a direct relationship. While the relationship of birth weight to IQ gradually became less marked, the effect of social class was increasingly evident from the age of 2 years and 6 months. The preterm children whose birth weight was appropriate for gestational age (AGA) attained a slightly higher mean IQ and significantly better grade placement in the third school year than the children who were unduly light for their gestational age. Details of the neurological and ophthalmological defects are given, and the predictive significance of neonatal variables is analyzed.

Attention Deficit Disorder with Hyperactivity↗
PubMed1980

Spinal cord damage: a rare complication of purulent meningitis.

Three cases of spinal cord damage following acute bacterial meningitis are described. Two children survived with neurological sequelae, while one died. Autopsy showed extensive spinal cord necrosis. The possible mechanisms for this rare complication are discussed and a possible connection with transient cardiorespiratory arrest is suggested.

Child, Preschool↗
PubMed1975

Optic nerve hypoplasia with hypopituitarism. Septo-optic dysplasia with hypopituitarism.

Four children had optic nerve hypoplasia with hypopituitarism, and their clinical picture varied with age. The newborn had apnea, hypotonia, seizures, hyopglycemia, and prolong jaundice. The young infant had defective vision, behavioral delay, hypotonia, and seizures. Except for a mildly receding lower jaw and a high-arched palate, the appearance of the patients was not unusual. The fasting blood glucose level was mildly depressed. In two cases the liver was palpable and results of liver function tests were abnormal. The older child, who was blind and mentally retarded, had growth failure. The extent of the pituitary hormone deficiencies was variable, including diabetes insipidus. The septum pellucidum was not invariably absent. Clinical and pathological findings indicate that the brain lesion might be more diffuse than hitherto recognized. Early recognition of this syndrome and timely intervention might diminish serious sequels.

Abnormalities, Multiple↗
PubMed1975

Name-printing as a test of developmental maturity.

An attempt to derive a practical scoring technique for name-printing by children in kinderten (age-range 5 1/2 to 6 1/2 years) as a quick test of skills and maturity is reported. The relationship of the Print-Your-Name test scores to other established tools of developmental assessment is examined. Teachers' assessments of the study children's readiness for academic promotion and of those children with school problems tended to correlate with the test scores.

Canada↗