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Pleural aspergillosis occurs mostly in established cases of pleural empyema with a broncho-pleural fistula. Ten such patients are reported here: in all, infection was related to tuberculosis. In three cases with an active, sputum-positive tuberculous process the pleural empyema was a complication of spontaneous pneumothorax in two, and of lung resection in one. In two cases the empyema occurred as a complication of tuberculous pleuritis, but infection was noted only after the sputum had become negative for tubercle bacilli. In five patients with inactive tuberculosis, the empyema was a late complication of pneumothorax therapy. The diagnosis of pleural aspergillosis is made on the basis of microscopical examination and culture of in the pleural pus. The cultures were positive in seven of the 10 cases presented. In two cases in which the culture was negative microscopical examination of the pus revealed the presence of numerous fungal hyphae which was evidence of fungal necrosis. In one case the diagnosis was not made until necropsy. Serum precipitin tests with filtrates of are further valuable evidence of aspergillous infection. Of 10 presented patients, this test was positive in all seven cases in which it was done. The treatment of pleural aspergillosis by local instillation of nystatin or amphotericin B was effective in six out of seven cases in which it was used. [ABSTRACT FROM PUBLISHER]

An anthropometric study was undertaken to assess head proportions of patients with X-linked hypophosphatemia (XLH). Fourteen morphometric parameters of the head were measured and 10 cephalic indices calculated in 82 affected persons (57 females and 25 males) from 55 unrelated families with XLH, and compared with the results obtained in the group of their healthy relatives (37 females and 33 males), as well as with general population control values. Normalized values (SD, z-score) were analyzed statistically. The group of healthy relatives, both males and females, differed significantly from Polish population control values in most of the normalized variables measured, making population control values useless as a control group for the analyzed XLH group. Intrafamilial values of cephalic parameters in healthy relatives of the XLH patients were finally applied for statistical analysis. Generally patients with XLH showed highly statistically significant increase in head length (males 0.95 +/- 1.07 vs. -0.37 +/- 1.02, females 0.57 +/- 1.59 vs. -0.06 +/- 1.15), significant decrease in occipital breadth (males -0.56 +/- 1.27 vs. 0.70 +/- 1.28, females -0.59 +/- 1.7 vs. 0.13 +/- 1.1) and several milder anomalies of craniofacial proportions. Mean cephalic index was significantly lower in XLH patients when compared with the healthy relatives (males -0.909 vs. 0.278 P < 0.0001, females -0.705 vs. 0.381 P = 0.007). The cephalic changes were found both in XLH children and XLH adults and were more pronounced in affected males than in females. There were no differences between offspring born by hypophosphatemic and normophosphatemic mothers., (Copyright 2003 Wiley-Liss, Inc.)

Clinical and molecular data of 59 affected persons from 36 unrelated families with XLH (36 probands and 23 members of their families) were analysed. Characteristic phenotypic features (degree of leg deformities, growth failure, tooth abnormalities, tubular reabsorption of phosphate, serum phosphate and 1,25-dihydroxyvitamin D3 concentrations, head length and hearing defect in some cases) were assessed in relation to the type and localisation of 29 different PHEX gene mutations. The severity of clinical symptoms did not strictly depend upon the type and localisation of the PHEX gene mutation. A hearing defect was correlated with mutations in the beginning fragment, while tooth abnormalities and increased head length with the mutations in the beginning and the terminal fragment of the gene. Phosphate and vitamin D3 supplementation usually slowed progressive growth retardation and leg bowing. Our results point to the probability that alternative splicing occurs in the PHEX gene, producing several active forms of the PHEX protein. Some of them might be involved in bone turnover and dentin formation, others in renal phosphate uptake and vitamin D3 metabolism.

The aim of the study was to characterize abnormalities of calcium-phosphate and vitamin D3 metabolism in children with a past history of "mild" Lightwood-type idiopathic infantile hypercalcaemia. Seventeen seemingly healthy children aged 2-12 years, with long-term idiopathic hypercalcaemic syndrome since infancy were studied. Two reference groups were also included (vitamin D3 intoxication/healthy and Williams groups). Despite a long-term milk-restricted diet and a restricted vitamin D3 intake, urinary calcium excretion in the study group was 0.117 +/- 0.07 mumol/kg per 24 h. Compared with the reference groups (0.047 +/- 0.029 and 0.067 +/- 0.06 mumol/kg per 24 h, P < 0.05), there was significant hypercalciuria in the children with idiopathic hypercalcaemia since infancy. Serum concentrations of 25-hydroxyvitamin D3 in the study group were also elevated compared with the reference groups (57.4 +/- 15.5 vs. 34.6 +/- 9.3 and 22.7 +/- 10.5 ng/ml). 1,25-Dihydroxyvitamin D3 levels were at the upper limit of normal (45.9 +/- 13.1 vs. 35.0 +/- 8.1 and 30.0 +/- 13.7 pg/ml). Non-progressive, clinically silent nephrocalcinosis was visible on ultrasound examinations. The disturbances of vitamin D3 and calcium-phosphate metabolism persistent in the normocalcaemic phase of idiopathic infantile hypercalcaemia may be a primary metabolic defect of the condition. The mechanisms leading to elevation of metabolites of 1,25-dihydroxy- and 25-hydroxyvitamin D3 and the relationship between this and persistent hypercalciuria and nephrocalcinosis need pathophysiological explanation.

The paper presents the results of the analysis of atonic epileptic seizures with application of brain mapping eeg. The views to date on the pathogenesis of atonic seizures could be based on the assumptions of centrencephalic epilepsy voiced by Penfield and Jasper. The present investigations and electrophysiological-clinical observations support, however, contrary to the concept of Penfield and Jasper, the cortical origin of these seizures. The discussion on the clinical forms of atonic seizures in epilepsy, confirmed by analysis of brain mapping in the domain of frequencies and amplitude distribution, in the form of brain topograms, allows for the concept of cortical origin of these seizures with the probability of localisation of the epileptic focus, as in here presented case, in the anterior right paramedial frontal region of the brain.

Growth rate of five children with vitamin D-dependent rickets was analyzed during the long-term treatment with an active analog of vitamin D3. Considerable increase in growth rate together with the improvement of biochemical values and radiological pattern took place during the initial phase of administration of 1-hydroxyvitamin D3. During the maintenance treatment of long duration with 1-hydroxyvitamin D3 both the acceleration of growth and catch-up growth persisted. However, in 4 among 5 children studied an inhibition of growth was observed during different periods of time. Only in one boy was this connected with the conclusion of the process of physiological growth. In three remaining children a slow-down in growth rate appeared during the pre-pubertal period or was the effect of lowering the dose of 1-hydroxyvitamin D3 as an countermeasure to hypercalciuria. In such cases inhibition of growth was caused by the administration of too small a dose of 1-hydroxyvitamin D3 in relation to the requirement. In all cases the appearance of biochemical features of rickets aggravation, such as low blood serum phosphate concentration and elevated alkaline phosphatase activity, preceded the observable inhibition of growth. The results obtained allow us to conclude that the inhibition of growth observed during the long-term treatment of rickets with 1-hydroxyvitamin D3 may be regarded as the first signal of inadequate dosage of 1-hydroxy vitamin D3.

Brain mapping of the cerebral bioelectric activity was done by the BEAM method in 20 patients with Parkinson's disease treated by cryothalamotomy. Conventional egg examinations demonstrating relatively small changes of the type of local asymmetry of frequencies and/or amplitudes, sporadic focal changes, and sporadic generalized and disseminated generalized changes were analysed in a computer system in the domain of frequency and time. Brain mapping demonstrated very distinctly the asymmetry in the frequency bands alpha and beta. On the operated side a regular alpha rhythm of lower frequency but higher amplitude dominated in the brain hemisphere. On the intact side a quick beta rhythm prevailed and an irregular alpha rhythm was noticeable. This phenomenon described by analysis in the domain of frequency confirms the unilateral synchronizing influence of thalamotomy on the bioelectric activity of the operated brain hemisphere and may correlate with the functional motor improvement noted in the operated subjects. In three cases with a longer course of the disease analysis in the frequency domain demonstrated the presence of generalized diffused slow waves in both frontal regions. These changes correlated with mental insufficiency of the examined patients.

In a group of 5 patients it was found that the presence of succinylacetone in urine as well as increased urinary excretion of delta-aminolaevulinic acid are a good criterion for the diagnosis of type I tyrosinaemia, and may serve for monitoring of the effectiveness of treatment with low-tyrosine diet. Determination of tyrosine levels in blood and urine by the semiquantitative method may be deceptive.

Two cases are described of epileptiform convulsive seizures and consciousness disturbances in girls. The diagnosis of hypocalcaemia due to hypoparathyroidism was considerably delayed, and was made only when irreversible brain damage developed. The pathological mechanism, principles of diagnosis and treatment of hypoparathyroidism are discussed.

Investigations of calcium-phosphate metabolism were carried out in a group of 11 children and adults with intracerebral calcifications. It was possible to isolate three different pathogenetic types of calcifications in the striatum and dentate nuclei in the cerebellum. The authors suggest restriction of the term "Fahr's syndrome" to cases without true of false hypoparathyroidism. The assessment of the calcium-phosphate metabolism, and particularly, the test with parathyroid hormone, seem to be an indispensable element in the differential diagnosis of this type of intracerebral calcifications.

One hundred sixty one epileptic patients, resistant to standard antiepileptic medication, were treatecd with clonazepam. In 19 cases clonazepam was given during the epileptic status. In 17 cases the status was stopped. In the remaining 142 patients clonazepam was given orally. The short term effect of the drug was analysed after 3 months of observation and the long term effect after a period of more than 1 year of observation. The authors compare the relationship between the clinical form of epilepsy, the EEG changes and the duration of disease with the long and short term therapeutic effect of clonazepam. The results obtained suggest: short term therapy is more successful than long term therapy, poor results or intolerance at the beginning of the treatment occur in about 20% of patients. The influence of clonazepam on epilepsy with focal seizures is relatively better than on generalized forms of epilepsy. "Old" cases of epilepsy are significantly more resistant to clonazepam medication. The same is true for diffuse brain damage.

The similar localization of intracranial calcification in hypoparathyroidism and in Fahr disease without parathyroid gland disorder suggests that in these two disorders the pathomechanism of calcium phosphate deposition in the brain may be similar. It may be that in Fahr disease some factors, such as chronic respiratory alkalosis, could lead to hypoparathyroidism-like changes in the brain tissue. Abolition of the phosphaturic response to parathormone (PTH) was recently demonstrated in acute experimental hypocapnia. In three adult patients with Fahr disease, a tendency towards compensatory respiratory alkalosis and arterial hypocapnia was found. The parathormone test revealed a marked decrease in phosphaturia response to PTH, but normal cAMP response. In one patient, the parathormone test was repeated during propranolol administration and showed a considerable improvement in the phosphaturic response to parathormone. It is postulated that chronic hyperventilation and hypocapnia as well as phosphaturic resistance to PTH, intracellular increase of phosphate concentration and development of hypoparathyroidism-like intracranial calcification in patients with Fahr disease could all be caused by disturbance of adrenergic receptors and their relationship to PTH receptors.