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Biomedical subjects

W H Price

Publications and source records attributed to W H Price.

At least 37 records · Page 2Linked to original sources
PubMed1983

Dissection of the aorta in Turner's syndrome.

Three deaths from dissection of the aorta in a series of 157 adult women with Turner's syndrome are reported. These are greatly in excess of the numbers expected. None of the three patients had a coarctation of the aorta. One had aortic regurgitation but there was no reason to believe that the aorta in the other two patients had been subjected to unusual haemodynamic stresses. Cystic medial necrosis of the aorta was described in two patients on whom necropsies were carried out. It is concluded that there is probably a greatly increased risk of dissection of the aorta in Turner's syndrome even in the absence of any other abnormality of the aorta and aortic valve. Previously reported cases of aortic dissection in Turner's syndrome are discussed.

Adult↗
PubMed1983

DNA probes in X-linked retinitis pigmentosa.

Informative members of more than twenty families with X-linked retinitis pigmentosa have been sampled by venipuncture and DNA extracted from peripheral blood leucocytes and lymphoblastoid cell lines. X chromosome-specific recombinant DNA probes have been isolated from an X chromosomal genomic DNA library obtained by flow-sorting human chromosomes. These, and similar probes obtained from other laboratories, are being used to identify restriction fragment length polymorphisms in retinitis pigmentosa obligate heterozygotes. By analysis of linkage relationships in the offspring of double heterozygotes, it may be possible to localize the gene(s) responsible for this disorder to a particular subregion of the X-chromosome. Such probes are potentially useful for carrier detection and prenatal diagnosis.

Adolescent↗
PubMed1982

Bone demineralisation in patients with Turner's syndrome.

The hypothesis that the demineralisation associated with gonadal dysgenesis is analogous to post-menopausal osteoporosis was investigated. Bone mineral content of the distal forearm was measured in 11 adult patients with Turner's syndrome aged 18 to 57 years. As a group these patients were significantly demineralised (p less than 0.001) when compared with normal subjects. A bimodal distribution of bone mineral was demonstrated, the eight patients below the normal range having a bone mineral content 73% of normal. This may be the usual bone mineral content for a large proportion of Turner's patients. No steady reduction in mineralisation with age was demonstrated. The number of osteoporotic type fractures was obtained from the records of 36 adult patients with Turner's syndrome. From the cumulative total years at risk (770 patient years) from the age of 15 years, it was found that the number of fractures of the distal radius corresponded to the normal premenopausal rather than post-menopausal fracture incidence. The absence of any reduction in bone mineral content with age and no clear evidence of an increase in frequency of fractures both suggest that the demineralisation associated with Turner's syndrome is not analogous to post-menopausal osteoporosis. The regular use of long term oestrogen therapy as a treatment for 'osteoporosis' in these patients is therefore not justified.

Adolescent↗
PubMed1981

Venous thromboembolic disease in Klinefelter's syndrome.

In a series of 412 patients with Klinefelter's syndrome observed over periods ranging from 1 to 20 years, the frequency of hypostatic ulceration, deep vein thrombosis and pulmonary embolism was found to be raised. The prevalence of past or present hypostatic ulceration was 6%, which is 20-50 times higher than in the general population. The incidence of deep vein thrombosis in subjects aged between 30 and 70 years was 22.8 cases per 10,000 patient-years at risk. In community studies the incidence of this condition is around 4 new cases per 10,000 men per year. The frequency of pulmonary embolism was 16 cases per 10,000 patient-years at risk, compared with an expected figure of 0.9 to 3 cases per 10,000 men per year.

Adolescent↗
PubMed1980

Trisomy 8. Report of a mosaic human male with near-normal phenotype and normal IQ, ascertained through infertility.

Trisomy 8, in mosaic or non-mosaic form is an extremely rare chromosomal condition in man. Liveborn subjects usually present with mental retardation, bone and joint anomalies and a variety of other physical anomalies. The mental retardation associated with the condition is, however, usually moderate compared to that found in other viable human autosomal trisomic conditions. The present report describes a trisomy 8 mosaic male subject with normal IQ and near-normal phenotype, ascertained through infertility. Chromosome studies on peripheral blood lymphocytes reveal a pure trisomy 8 constitution; cultured skin fibroblasts show 46,XY/47,XY+8 mosaicism. At meiosis, the extra No. 8 chromosome is missing from the germ line. The testicular histology indicates a germ cell maturation arrest in many spermatocytes and the patient is severely oligospermic. Biochemical studies to assay levels of glutathione reductase, a red cell enzyme, the gene for which resides in chromosome 8, show increased levels in the trisomy 8 patient compared with controls.

Adult↗
PubMed1980

Hypostatic leg ulceration and Klinefelter's syndrome.

Sixty-one patients with Klinefelter's syndrome, of both normal and low intelligence, have been found to have a significantly higher frequency of hypostatic leg ulceration than a random sample of normal males, a group of male prisoners and a group of mentally subnormal men. The prevalence of varicose veins in these patients is also greater than in normal men and in prisoners but not significantly different from that of the mentally subnormal group.

Adolescent↗
PubMed1979

Plasma cyclic-AMP response to parathyroid hormone in Turner's syndrome and Albright's hereditary osteodystrophy.

Purified bovine parathyroid hormone (BPTH) given by injection to five patients with Turner's syndrome, and seven healthy volunteers produced a significant rise in plasma cyclic AMP reacing a maximum within 10 min. In a pseudohypoparathyroid patient there was no increase. Urinary excretion of cyclic AMP exceeded the normal in three out of four patients with Turner's syndrome. Thus, if there is a relationship between Turner's syndrome and Albright's osteodystrophy it is with the incomplete form known as pseudo-pseudohypoparathyroidism.

Adult↗
PubMed1979

A high incidence of chronic inflammatory bowel disease in patients with Turner's syndrome.

Four new cases of chronic inflammatory bowel disease in a series of 135 adult patients with Turner's syndrome observed over an average period of 11 years are reported. The diagnosis in 2 of the patients was ulcerative colitis; the other 2 had clinical and histological features consistent with a diagnosis of Crohn's disease. The incidence is considerably higher than any reported frequency of new cases of inflammatory bowel disease in the general population. Previously reported cases are described and attention is drawn to the severity of the bowel disorder. An apparent association with a karyotype abnormality which includes a structurally abnormal X chromosome is noted.

Adolescent↗
PubMed1978

Splenic lipofuscinosis in mice.

Autopsy examination of young adult mice revealed a characteristic pigmentation of the anterior splenic pole occurring in a high proportion (8-34 per cent) of three mouse strains and two sublines. Histological studies identified the pigment as lipofuscin and electron microscopy provided supporting evidence. Preliminary results are consistent with the hypothesis that lipofuscin may represent non metabolisable debris from cellular breakdown associated with lysosomal activity.

Animals↗
PubMed1978

Response to thyrotrophin releasing hormone in Klinefelter's syndrome.

In eleven patients with Klinefelter's Syndrome TSH, T4 and T3 levels have been measured after stimulation with TRH. The eleven patients included three who had been noted to have a low radioactive iodine uptake and two of these also had abnormally low T4 levels. Three of the patients were receiving androgen replacement therapy. A normal response to TRH was observed in all cases.

Adult↗