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Biomedical subjects

P E Sylvester

Publications and source records attributed to P E Sylvester.

At least 19 recordsLinked to original sources

The anterior commissure in Down's syndrome.

The area of a mid-sagittal secretion of the anterior commissure was found to be significantly smaller in 16 Down's syndrome patients compared with that of ten control subjects (3.78 mm2 compared with 7.52 mm2). Variables which could have influenced the differences such as brain weight, neuropathological features, relation to olfactory tract and hippocampal sizes were considered and excluded. It was deduced that smallness in size in Down's syndrome was the result of congenital malformation.

Adolescent↗

Xylose absorption in Down's syndrome.

A standard xylose absorption test was carried out in 14 people with Down's syndrome (DS) and in 14 age-matched mentally deficient controls; a further 30 people with DS were similarly investigated. Mentally deficient people as a group were found to have impaired xylose absorption, the matched DS subjects having a significantly reduced xylose absorption (P less than 0.001) when compared to the mentally deficient controls. Ninety percent of the DS subjects had a xylose excretion below the normal range. At present it is not possible to identify the cause of the malabsorption but it is highly likely that the malabsorption plays a role in a number of the vitamin and mineral deficiencies found in people with DS.

Adult↗

Ammon's horn or hippocampal sclerosis without epilepsy in mental handicap.

Neuropathological examination of the brain of eight adult mentally handicapped patients showed mesial temporal sclerosis. Three patients had cerebral palsy, one had Down's syndrome, three were retarded, and one had an unspecific mental handicap. Although there was a suspicion of fits in most patients, temporal lobe epilepsy was not diagnosed in life.

Adult↗

Nutritional aspects of Down's syndrome with special reference to the nervous system.

Multiple deficiencies of vitamins and trace metals have been demonstrated in Down's syndrome. The picture is complex, especially since not all individuals are affected equally. Deficiencies are not age-related, but appear to be lifelong. The brain in Downs's syndrome does not develop adequately; one area, the hippocampus, which is concerned with memory, is poorly developed and is also involved in the pathological changes of Alzheimer's disease. The role of nutrients is discussed in relation to damage to the mature brain, and to the ageing process.

Adolescent↗

The hippocampus in Down's syndrome.

Evidence is presented from area measurements of the end folia (dentate gyrus) and pyramidal cell layer of the hippocampus in adults with Down's syndrome that these structures are significantly smaller than those found in control subjects. This is likely to be largely due to congenital malformation. The observation is supported by the fact that these structures in a Down's fetus were not so well formed as in a non-Down's fetus of equivalent age. Significant functional repercussion in memory processes and intellectual potential as well as in risk of developing ageing disease may follow hippocampal maldevelopment.

Adolescent↗

Head injury and mental handicap.

A clinical and pathological study of head injury and the implications in mental handicap are outlined. Non-accidental injury as a form of child abuse is suspected as contributing considerably to the cause of mental handicap in populations resident in long-stay hospital, but this is unlikely to be the best environment for such patients. A number of mentally handicapped epileptic patients who injure their heads during fits and patients who repeatedly bang their heads as a feature of self-injurious behaviour are exposed to progressive neurological deficits associated with lesions in the brain which could further impair the efficiency of brain function.

Adult↗

Hair trace metal levels in Down syndrome patients.

The concentration of a range of metals has been determined in the hair of a population of Down syndrome patients. These results are compared with a control group and the findings discussed. There does seem to be an abnormally low level of manganese, calcium and possibly copper in the DS patients. To date, the significance of these findings is not known but it is suggested that the results are worthy of further investigation.

Adult↗

Fragile X-linked mental retardation: the Martin-Bell syndrome.

Seven members of the original family of sex-linked mental retardation reported by Martin and Bell in 1943 have been re-examined and five of them proved to carry a fragile X chromosome. Some also display the typical facial appearance associated with this anomaly, and some have macro-orchidism. It is proposed that the condition should be designated "The Martin-Bell syndrome."

Aged↗

Clinicopathological studies of oculo cerebrorenal syndrome of Lowe, Terrey and MacLachlan.

A thirty-three-year-old male with Lowe's syndrome had cataract; nystagmus, buphthalmos, prominent frontal bossing, growth and mental retardation, aminoaciduria, proteinuria, rickets, areflexia, genu valgum, piercing cry and head-banging being among the presenting features. The rickety changes improved over a period of years with the administration of vitamin D2. Pathological changes include: (1) tubular damage in the kidneys and hypertrophies of Bowman's capsules; (2) small brain with ventricular dilatation with thickened meninges, small corpus callosum, small size of pyramidal tracts and medial leminisci, neurofibrillary tangles in the pyramidal cells of the Ammon's horn and frontal lobe; (3) eye changes of buphthalmos, congenital cataracts and thickening of Descemet's membrane; (4) testicular atrophy--both testes showing peritubular fibrosis with an increase of fibrous tissue in the interstitial tissue. Azoospermia was present linked with poor development of spermatogonia and spermatocytes. The lumina of the seminiferous tubules were filled with foamy exudate.

Adolescent↗