Genetic abnormalities and CNS tumors: report of two cases of ependymoma associated with Klinefelter’s Syndrome (KS)

Objects Genetic syndromes associated with ependymoma are uncommon, with the exception of NF2. We describe two cases of ependymoma presenting with Klinefelter’s Syndrome (KS) as co-morbid condition. Materials and methods The first patient was diagnosed for KS during pregnancy; he also presented a thyroid agenesis and a deficit of methyltetrahydrofolate reductase (MTHFR); at 30 months of age he was operated on for a grade II ependymoma of IV ventricle; after a multiple-stage surgery, he underwent oral chemotherapy and stereotactic radiotherapy, but after 15 months he presented a local recurrence and died. The second patient was diagnosed for KS at the age of 16 months; at 10 years of age, due to back pain, he underwent an MRI, which showed a cauda equine tumor. He underwent surgery and radiotherapy. Histology was of mixopapillary ependymoma. Conclusion In a review of literature, various neoplasms have been described in association with KS. To our knowledge, these are the first two cases reported of ependymoma associated to KS. A retrospective study of 44 monoinstitutional ependymoma cases demonstrated association with genetic syndromes in 22%.     

Interferon for non-A, non-B chronic hepatitis. A meta-analysis of randomised clinical trials

We reviewed randomised clinical trials evaluating the effect of lymphoblastoid or recombinant alpha-interferon in non-A, non-B chronic hepatitis. The outcomes assessed were the rates of serum alanine aminotransferase normalization and relapse during and after stopping interferon. Data were pooled by meta-analysis and a 50% overall rate difference, favouring treated patients, was found. Results showed homogeneity in direction of treatment effect both after short-term (2-6 months, greater than or equal to 2 mega-units thrice weekly) and long-term (9-18 months, variable dose) interferon course. Moreover, results did not change when type of publication (abstracts vs. full reports) and treatment duration or schedule were accounted for. About 50% of patients originally responding to treatment relapsed within 6 months of either dose reduction or stopping interferon, thus suggesting that only in about one out of four patients is benefit from treatment sustained up to 1 year. We conclude that larger trials are needed to identify an optimal schedule of treatment and to evaluate predictors of interferon effectiveness in patients with non-A, non-B chronic hepatitis.     

Disseminated intracerebral alveolar echinococcosis: CT and MRI

Cerebral alveolar echinococcosis is rare and has a poor prognosis. We report an unusual case presenting with disseminated intracranial lesions secondary to primary hepatic infection. Received: 2 May 1996 Accepted: 23 August 1996     

Coronary stenting for coronary artery narrowing in a heart transplant recipient

Transplant atherosclerotic coronary disease remains the leading cause of death in heart transplant recipients. We report the first case of coronary stent implantation in a heart graft for epicardial focal stenosis. Due to the lower rate of restenosis after stenting in the native coronary artery, we suggest that coronary stenting be considered an acceptable, first intention therapeutic option instead of angioplasty alone whenever possible.     

Glutathione S-transferases in human testicular germ cell tumors: changes of expression and activity.

Glutathione S-transferases are involved in the detoxification of carcinogens and xenobiotics and are potentially associated with the development of drug-resistance. Forty-six testicular germ cell tumors and 33 adjacent normal testicular tissue specimens were analyzed at the RNA level for the expression of glutathione S-transferase alpha and pi. Glutathione S-transferase alpha was expressed in 31 of the 33 normal testicular tissues (94%) but in only three of the 46 germ cell tumors (7%). Glutathione S-transferase pi mRNA was detected in all normal and malignant testicular tissue samples. Thirteen testicular germ cell tumors and eight normal testicular tissue samples were analyzed at the protein level. The mean specific activity of total cytosolic glutathione S-transferase in tumor tissue was decreased by about 80% as compared to normal testicular tissue. Protein analysis of the glutathione S-transferase subunits of normal testicular tissue demonstrated the presence of the glutathione S-transferase classes alpha, mu and pi, with a predominance of the mu class. In testicular germ cell tumors the glutathione S-transferase subunit pattern showed a predominance of glutathione S-transferase pi representing 88% +/- 3% of total glutathione S-transferase. Since all three glutathione S-transferase isoenzyme classes contribute to the resistance to antineoplastic drugs, the altered glutathione S-transferase isoenzyme pattern and the decrease of glutathione S-transferase activity may play a role in the high inherent drug sensitivity of human testicular germ cell tumors.     

Experience with thoracoscopic pleurodesis in the treatment of idiopathic spontaneous pneumothorax

Between January 1987 and December 1988 thoracoscopic pleurodesis has been used as a standard treatment for idiopathic spontaneous pneumothorax. Bullae were electrocoagulated, and visceral and parietal pleurae were cauterized. Chemical pleurodesis with 50% glucose-solution was added. 34 procedures were performed on 32 patients. The average hospital stay was 8 +/- 2 days. One patient suffered from postoperative Horner-syndrome. No other complications occurred. Patients were re-evaluated 11 +/- 8 months after the operation. Recurrence was found in four patients within 30 days. These patients underwent pleurectomy. Another patient had recurrence after two months. He was again and successfully treated by thoracoscopic pleurodesis. Our data show improvement of the results as compared with simple chemical pleurodesis.     

Measurement of right ventricular dP/dt. A simultaneous/comparative hemodynamic and Doppler echocardiographic study]

Right ventricular systolic function is difficult to assess by Doppler echocardiography. We studied 14 patients with tricuspid regurgitation on Doppler echocardiographic examination with the object of determining an index of right ventricular contractility based on the continuous Doppler signal of the regurgitant jet. The rate of increase in right ventricular pressure was calculated between 2 points, V1 and V2, situated on the ascending limb of the velocity profile of the tricuspid regurgitation and compared with the dP/dt max measured simultaneously at right heart catheterisation. The different values of V1 and V2 were: 0 and 1 m/s, 0 and 2 m/s, 0.5 and 1.5 m/s, 1 and 2 m/s and 0.5 and 2 m/s. An excellent correlation was observed between the catheter dP/dt max and the rate of increase in pressure measured by Doppler between 0 and 2 m/s (r = 0.93; p = 0.0001) and between 0.5 and 2 m/s (r = 0.93; p = 0.0001). The correlation was not as close between 0 and 1 m/s (r = 0.69; p = 0.048) and there was no correlation with the measurements between 0.5 and 1.5 m/s and between 1 and 2 m/s. Doppler echocardiography could therefore be used for non-invasive assessment of right ventricular systolic function in clinical practice.