Biomedical subjects
Publications and source records attributed to C R Paterson.
A case of medullary hemangioblastoma is described occurring in association with familial hyperparathyroidism. The possibility that this combination may represent a previously unreported variant of Lindau's disease is discussed.
The fundamental biochemical abnormality in familial benign hypercalcaemia (FBH) (familial hypocalciuric hypercalcaemia) is unknown. It seemed possible that, since the kidneys and the parathyroid glands are insensitive to the high extracellular calcium levels, a general disorder of the regulation of the calcium pump on the plasma membrane is present. We obtained evidence suggesting that active calcium efflux by erythrocytes from patients with FBH (85.7 +/- 4.5 mumol 1(-1) min-1) is higher (P less than 0.005) than that by erythrocytes from control subjects (78.6 +/- 4.1 mumol 1(-1) min-1) or from patients with primary hyperparathyroidism (77.5 +/- 5.2 mumol 1(-1) min-1, P less than 0.05). Calcium influx into erythrocytes was normal in FBH and in primary hyperparathyroidism.
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The concentration of alpha 2HS-glycoprotein was measured in the serum and urine of normal individuals and of patients with osteogenesis imperfecta. The serum concentration of alpha 2HS-glycoprotein was higher in normal children than in adults. In women values showed a progressive age-related decrease, from 632 mg/l at 21-30 years to 573 mg/l at 51-60 years. In men there was no such age-related variation, and values were higher than in women of comparable age; the mean value for men aged 20-60 years was 648 mg/l. Of 48 patients with osteogenesis imperfecta, 11 had an abnormally high concentration of alpha 2HS-glycoprotein in serum; the cause of this is not clear. In urine of 24 normal individuals the mean value of the ratio albumin: alpha 2HS-glycoprotein was 20 +/- 3; in serum the corresponding ratio was 70. Urine excretion of alpha 2HS-glycoprotein was lowest in female children (132 +/- 29 micrograms/24 h) and highest in male adults (592 +/- 91 micrograms/24 h); values in patients with osteogenesis imperfecta did not differ from normal.
We have studied 166 patients from 71 families with Sillence type I osteogenesis imperfecta (dominant inheritance and blue sclerae). We confirm earlier findings that there are two subgroups, those with and those without dentinogenesis imperfecta; each family can be allocated to one or other group. Our confidence that the two groups represent distinct disorders is increased by finding that the patients with dentinogenesis imperfecta differ not only in their dental characteristics but also in other clinical features. They have a more severe disease with a greater fracture rate and a greater likelihood of growth impairment.
Most patients with dominantly inherited osteogenesis imperfecta have blue sclerae and relatively mild symptoms. However, in a small group of families the patients have normal sclerae and this disorder has been classified as Type 4 osteogenesis imperfecta. This paper reports the clinical and radiographical features of 48 patients from 16 families with Type 4 osteogenesis imperfecta and compares the findings with those of the classical disorder with blue sclerae (Type 1 osteogenesis imperfecta). The two types are similar in usually causing a mild disease but with a wide range of severity, and in both types the rate of fracture declines in adolescence. There are, however, some significant differences apart from the colour of the sclerae. In Type 4 the first fracture more commonly occurs at birth, dentinogenesis imperfecta is more frequent than in Type 1 and bruising and nose-bleeds are less common. As in Type 1, the radiographic appearances of the bones may be normal. It is important that Type 4 osteogenesis imperfecta should be recognised because of the need for competent genetic counselling, because the management may be different from that appropriate for Type 1 and because it may be mistaken for idiopathic juvenile osteoporosis or child abuse.
Assays of plasma levels of 25-hydroxyvitamin D are widely used to assess vitamin D nutrition in health and disease. In interpreting the results it is important to take into account not only details of analytical technique but also environmental conditions including latitude, season, occupation and weather. This paper presents new data which show that climatic variations from year to year may make appreciable differences to the reference ranges which are appropriate for the interpretation of results from patients.
There are many types of sun-beds, sun-benches and sun-panels containing fluorescent tubes which, because of their predominantly UV-A emission, are advertised to the public as a means of obtaining a tan without sunburn. This study reports the effects of a sun-bed on skin colour, on the protection afforded against sunburn, and on vitamin D formation. Side-effects are also recorded. It was shown that the sun-bed emits mainly UV-A but very little UV-B and some tanning occurred in most subjects. However, no correlation was observed between the subjects' stated ability to tan and the degree of pigmentation achieved at the end of the treatment. Most subjects also had itching and erythema, and three had polymorphic light eruption. Although very little UV-B irradiation was present, a significant increase in serum levels of 25-hydroxyvitamin D occurred, and possible explanations of this surprising finding are discussed. While the sun-bed proved popular with the subjects, only a modest tan was achieved and the incidence of side-effects appeared to limit the value of this type of appliance, especially with regard to the prevention of vitamin D deficiency.
At least ten members in four generations of a large family had familial benign hypercalcaemia (FBH) (familial hypocalciuric hypercalcaemia). Three members of the family had had parathyroid explorations (one on two occasions) before it was realised that they did not have primary hyperparathyroidism. FBH resembles hyperparathyroidism in that the plasma phosphate level is often in the low-normal range and in that parathyroid hormone is often detectable in the plasma. Urinary excretion of calcium is exceptionally low in FBH; indices reflecting tubular handling of calcium, such as calcium excretion per litre of glomerular filtrate, are better than 24 h urinary calcium in discriminating between FBH and primary hyperparathyroidism.. FBH may be more common than is generally appreciated; it is important that it should be recognised so that patients may be spared unnecessary surgery.
The high incidence of peptic ulcers and abdominal pain from other causes in patients with primary hyperparathyroidism has been recognized for many years. This paper reports 20 patients with hyperparathyroidism: 12 with peptic ulcers and 8 with abdominal pain from other causes. Only in a minority of these was the diagnosis of hypercalcaemia made as a result of a deliberately sought assay; in most the plasma calcium had been measured as part of a 'screening' procedure with a multichannel analyser. In almost all of the patients who had parathyroid surgery the abdominal symptoms were completely relieved. We urge that plasma calcium assays should be made in all patients with dyspepsia particularly those with recurrent symptoms.
1. A group of 129 patients with chronic alcoholism were assessed for their nutritional status with respect to certain minerals and vitamins, and compared with control subjects. 2. In all subjects the plasma values were normal for calcium, magnesium and zinc. 3. As in other studies a seasonal variation was found in the plasma levels of 25-hydroxyvitamin D in the control subjects and the alcoholic subjects; in all seasons lower levels were found in the alcoholics than in the controls, but none of the alcoholic patients had results in the range found in osteomalacia. 4. The alcoholic subjects had low levels of ascorbic acid both in the plasma and in the leucocytes. 5. Although vitamin A and beta-carotene levels were within the reference range, the results in alcoholics were found to be lower than in the control subjects. 6. We suggest that subclinical vitamin deficiencies other than thiamine deficiency contribute to the cerebral impairment frequently found in alcoholism.
Seasonal variations in vitamin D nutrition were assessed by measurements of serum 25-hydroxycholecalciferol levels in outdoor workers, indoor workers and long-term hospital inpatients. All three groups showed seasonal changes and the outdoor workers had, as might be expected, the highest levels at all seasons. However, the highest levels of 25-hydroxycholecalciferol were found in October in the indoor workers and in November for the outdoor workers whereas the peak in ultraviolet exposure was in July. The possible reasons for this long lag are discussed; the most likely explanation is that vitamin D continues to be formed and stored during the autumn especially in outdoor workers.
This paper describes a 2 1/2-year-old Bengali child who presented with failure to thrive and was found to have several fractures of the extremities. The skull radiographs showed widening of the sutures and fracture-like appearances. However, there was no evidence of a subdural haematoma. Minor rachitic changes were at first disregarded, and he was assumed to have been neglected and to have sustained nonaccidental injury. He was discharged to foster parents. It was eventually recognised that the skeletal changes were all appearances of rickets and that some of the fractures were in fact pseudofractures. The child returned to his own parents at the age of 4. Malnutrition, a well known consequences of rickets, may make interpretation of radiographs of the epiphyses difficult.
This paper describes a woman with pseudopseudohypoparathyroidism (PPHP) who had intractable lymphoedema and also abnormal dermatoglyphics. The findings were quite distinct from those in two previously reported cases of pseudohypoparathyroidism (PHP). Dermatoglyphics may prove useful in the diagnosis of PPHP but may also provide a clue to the factors which distinguish PPHP from PHP.
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A survey is reported of the genetic advice given to 272 families with osteogenesis imperfecta. An appreciable number of families were not given advice by anyone even though they had asked for it, and only one quarter of the families had been referred to a clinical genetic specialist. Overall approximately one third of the information recollected as having been received was incorrect but genetic specialists were clearly more successful than other doctors.
Three women with hypoparathyroidism are described who developed severe symptomatic hypercalcaemia while being treated with alphacalcidol (1 alpha-hydroxycholecalciferol; One-Alpha). One sustained permanent renal damage. Alphacalcidol may have advantages over calciferol in its speed of action but poisoning may be more likely to occur. Frequent follow-up checks on the plasma calcium is needed for any patient on alphacalcidol. For long-term management calciferol may still be the drug of choice.
This paper reports a seasonal variation in alkaline phosphatase (ALP) levels in the serum, with low values occurring in summer and high in winter. These variations were found both in indoor and outdoor workers and in a group of elderly women in a long-stay ward. The seasonal change in ALP was in the opposite direction to the seasonal change in the serum levels of 25-hydroxyvitamin D. No such change was seen in the serum levels of gamma-glutamyltransferase. It is suggested that the seasonal change in plasma ALP could be due to changes in the bone isoenzyme. Serum levels of calcium remained unchanged; the change in ALP may reflect a homeostatic mechanism controlling plasma calcium, which compensates for seasonal variations in vitamin D supply.