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In a newborn girl with a history of connatal liver damage, histological examination of a liver biopsy sample taken during the seventh week of life revealed incipient destruction of bile ducts. Very high titres of antimitochondrial antibodies were later detected in the plasma. As the hepatic injury tended towards fibrosis, the histological diagnosis became primary biliary cirrhosis. Autoantibodies against E1α, E2, and E3 subunits and protein X component of pyruvate dehydrogenase complex, and against citrate synthase were detected on western immunoblotting in a 1 in 1000 dilution of the patient's serum. The patient died of her illness at 11 years of age. In liver specimens obtained at autopsy human immunoglobulin deposition was detected on the surface of almost all hepatic cells by immunohistology. As there is a physical and functional interaction between pyruvate dehydrogenase and citrate synthase within the mitochondria, the presence of autoantibodies against certain proteins in the patient suggests that in this form of the disease the molecular recognition and then the autoimmunisation process could be directed against a mitochondrial enzyme cluster containing both pyruvate dehydrogenase and citrate synthase. Keywords: primary biliary cirrhosis; pyruvate dehydrogenase; citrate synthase

The authors investigated the usefulness of the interphase cytogenetic approach to reveal numerical chromosomal abnormalities. Experiments performed on normal human cells using chromosome specific (peri)centromeric probes indicated that disomy was recognized in a range of 89.1 +/- 5.4%-96.8 +/- 0.4% for the somatic chromosomes and in 98.1 +/- 0.8% for the sex chromosomes. Using positivity threshold of mean percentage of the fals monosomy and trisomy + 2 SD, chromosome loss or gain for the somatic chromosomes could be revealed beyond clonal ratio of 3.6-13.2% and 1.1-6.8%, respectively. The same value for the sex chromosomes was 3.2% and 0%, respectively. Eleven pediatric acute lymphoid leukaemia were investigated for chromosomal aneuploidy by interphase cytogenetics using chromosome specific (peri)centromeric probes for all the somatic and sex chromosomes. Results were compared with metaphase cytogenetic and flow cytometry derived gross DNA aneuploidy data. In 5 cases the leukaemic cells proved to be diploid with all three methods at both gross DNA and chromosome levels. Interphase cytogenetics revealed chromosome loss or gain in all the remaining 6 cases, however, metaphase analysis indicated numerical aberration in only 2 patients. In one of them only the increased chromosome number could have been detected without identifying the chromosomes involved and in the other one the two methods indicated trisomy for not the same chromosome. Flow cytometry data showed aneuploidy in 3 out of the 6 aneuploid leukaemia. The results imply that interphase cytogenetics might be more accurate as compared with flow cytometry and metaphase analysis to reveale aneuploidy.

The authors report on 9 cases of bladder augmentation with detubularized intestinal segments. The capacity of the contracted bladder was increased in 4 cases; care was taken to prevent the development of an hour-glass bladder. In a young female patient a caecal-ileal segment was applied so that in case of a possible future pregnancy the mesentery should not hinder the growth of the uterus. In 4 cases hypertonic neurogenic bladders were augmented with intestinal segments, thus the further destruction of the kidneys could be avoided. In one case the reflux was hindered by a Kock valve, but stagnation developed above the valve, therefore it was eliminated and replaced by a 15 cm intestinal segment. In one case the uninhibited neurogenic bladder was augmented, the resistance of the urethra increased as a result of which the patient stayed dry between self-catheterizations. Attention is called upon the metabolic disturbances and increased risk of infection following intestinal implantations.

Radical prostatectomy has been successfully applied in the treatment of intracapsular prostatic tumour. A few modifications of the surgical technique are suggested to prevent complications. Initial results confirm that the method works, as all patients have remained continent. One of them died of pulmonary embolism right in the postoperative phase.

Twenty-two carcinoma patients aged less than 65 years were subjected to radical nephrectomy through total median laparotomy. This type of approach provides excellent access to both essential operation phases: vessel management and lymphadenectomy. Postoperative abdominal complications and hernia have not been encountered.

A total of 780 patients were operated on for lithiasis. Among them 97 presented multiple urolithiasis which was often associated with Schistosoma infection. Bilharziasis, in accord with theoretical considerations, plays a part in the formation of calculi, especially in that of multiple urolithiasis.

Residual urine was measured with the two-dimensional and the gray-scale equipments (Kretz-Technik) in 26 cases each. The results were checked by catheterization. The difference between the ultrasonographic and the catheter values was 20 to 40 ml for the two-dimensional, but only 5 to 10 ml for the gray-scale apparatus. Ultrasonography is regarded as a reliable and entirely harmless procedure, suited for the measurement of residual urine.

The authors have treated 38 patients with chronic phase chronic myeloid leukemia in their single center in the last five years. Conventional chemotherapy provided about 40-50% hematological response, interferon-alpha seems to be more effective, complete hematological remission occurred in 65%. Interphase cytogenetics and fluorescein in situ hybridisation technique was used to measure the cytogenetic response. They observed complete cytogenetic remission in two cases (8%), major response in 11 (39%), minor response in 4 (15%) and minimal response in 4 cases (15%). Interferon-alpha is an effective, well-tolerated medicine in the treatment of chronic myeloid leukemia.

A case is reported in which diagnosis of a calyceal diverticulum, at the time of observation of cystic appearance, was made by ultrasonography, without requiring special roentgen diagnostic procedures of limited safety.

The highly variable biological behaviour of neuroblastoma, a neoplasm which belongs to the family of primitive neuroectodermal tumours, is determined by its molecular pathological characteristics. Among them amplification of the N-myc gene is the most important factor in both therapeutic and prognostic points of view. Value of the amplification can be determined by different methods. The latest of them is the competitive polymerase chain reaction (PCR), essence of which is the parallel reaction of the target N-myc gene (exon 3.) and the endogen competitor CF gene (exon 3.) in the same reaction solution. The authors applied the method on 11 neuroblastoma cases diagnosed between 1994 and january of 1999. In three cases the amplification was determined also by fluorescens in situ hybridization (FISH). Six of the 11 cases were detected to have more than 10-fold, two of the six about 100-fold N-myc amplification. Results of the PCR and FISH correlated well. The two methods applied by the authors complete each other and are appropriate for determining the gene amplification which gives valuable prognostic and therapeutic information about the examined tumour.