[Persistant pubertal gynecomastia. Biological study (author's transl)].
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Biomedical subjects
Publications and source records attributed to R Jean.
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An anatomoclinical study of a case of Kearns' syndrome is reported. Neuro-ophthalmic symptoms appeared when the child was 13 year-old. Two and a half years later occurred an episode of paroxystic atrioventricular block, after which the triad characterising the syndrome was completed: retinitis pigmentosa, ophthalmoplegia, disorder of heart conduction. The course was unfavorable despite pacemaker insertion. Study of the central nervous system showed spongiosis of the subcortical white substance, of the basal ganglia and of the cranial nerve nuclei. The specialized heart conduction tissue was the site of apparently primary degeneration. The extension of the visceral involvement is discussed in the light of published data.
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Plasma prolactin was measured in six normal boys, during night sleep, with simultaneous recording of EEG for determination of the various stages of sleep. Peaks of prolactin appear clearly during cycles of rapid sleep: in prepuberty, the average of night peaks of prolactin is higher than that in post-puberty subjects. These results suggest indirectly, a participation of prolactin in prepuberty adrenal maturation.
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The difficulties encountered in developing a microassay of plasma aminoacids are presented. Blood was collected by capillary puncture simultaneously at the heel, finger tip and from the lobe of the ear and the results were compared with those obtained from venous blood. Capillary plasma was shown to be contaminated by free aminoacids from the skin, which causes a considerable elevation especially of the serine level. Glycine, ornithine and histidine were also often increased. Our findings suggest that caution is necessary when interpreting aminoacid results estimated on blood collected by capillary puncture.
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Three cases of Kearns syndrome are reported. The neuro-ophthalmological signs were comparable with ophthalmoplegia, pigmentary retinal degeneration and polymorphic neuro-muscular and sensory deficits. The electrocardiological signs were observed 2-4 years after the onset of the condition; the cause of death in each case was related to complete heart block. The post-mortem findings in one of the cases were spongial degeneration of the central nervous system and a seemingly primitive degeneration of the Bundle of His and its branches.
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Two children who presented with Wilm's tumour and severe hypertension are described. The hypertension, which was secondary to excessive renin secretion, regressed after unilateral nephrectomy. In one child the total quantity of renin in the tumour was high and the peripheral plasma renin was also increased. The latter was unaffected by posture or a low salt diet and on angiography there was no compression of the renal arteries. Electron microscopy of the tumour cells showed numerous intra-cytoplasmic granules. In the other child the peripheral renin was only moderated elevated and could be stimulated by changes in posture or a low salt diet. Angiography demonstrated a large tumour that was compressing the renal artery on that side. No renin was detected in the tumour. In this child the inappropriate secretion of renin was probably due to renal parenchyma close to the tumour causing reno-vascular hypertension. The anti-hypertensive effect of propranolol given pre-operatively was excellent.
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Metabolic balances were used to study the intestinal absorption of calcium, magnesium and phosphate in children with steroid sensitive nephrotic syndrome in relapse. Magnesium balance was unaffected by the illness, steroid therapy, or by the addition of vitamin D. In contrast, the absorption of calcium and phosphorus was reduced by the illness and was still furthur diminished by the steroid therapy. The addition of vitamin D was totally ineffective in the doses used. The causes of these changes are discussed.
A boy aged 12 years is described who had eosinophilic gastroenteritis, a rare condition in childhood and one that is difficult to diagnose. Eosinophilia in the peripheral blood is a useful diagnostic clue. Although the histological appearances suggest an allergic process, the aetiology is unknown.
A girl presented with a malignant reticulosis in the early months of life. For 4 years she was treated with repeated courses of irradiation and chemotherapy, mostly cyclophosphamide. After 6 years of complete remission she developed a rapidly progressive B cell lymphoma. The contribution of the various forms of treatment to the development of the second malignancy are discussed.
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