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%.     

Intensive retreatment of adults and children with acute lymphoblastic leukemia.

Twenty-three patients (16 adults) failing their first or subsequent (n = 8) intensive treatment for de novo acute lymphoblastic leukemia (ALL) and chronic myeloid leukemia lymphoid blast phase (n = 2) were managed with protocol POG 8201, originally introduced in relapsed ALL of childhood. In this programme, a four-drug induction phase is followed by early consolidation with teniposide-cytarabine, intrathecal chemotherapy, continuation weekly chemotherapy alternating teniposide-cytarabine with vincristine-cyclophosphamide, and periodic reinduction courses. Fourteen adults and five children with ALL achieved a complete response (CR) (86 per cent). The highest response rate (100 per cent) was obtained in 12 patients treated at first relapse after an initial CR of greater than 18 months (p = 0.07). Median duration of CR was 8 months in adults and 11 months in children. A longer than previous one CR (inversion) was obtained in four cases. Four ALL patients were successfully transplanted from a matched sibling after 3-11 months from achievement of CR. Median overall survival in adults with ALL was 11 months, significantly longer than for 40 comparable cases treated intensively but without rotational continuation therapy in previous years (p less than 0.001). This regimen is applicable to adults with relapsed ALL, where prolongation of survival may allow time for effective salvage with bone marrow transplantation.     

Quality of life research and health technology assessment—a time for synergy

Measuring quality of life and assessing technologies are both increasingly prominent in health care systems. This growth has accompanied growing concern over aging populations and health care expenditure growth. Nevertheless, there appears to be unrealized potential for synergy between quality of life research and technology assessment. In this paper, we consider the roles and challenges facing quality of life research in three domains: research—particularly clinical trials of therapeutics; clinical situations and policy-making. We then examine the potential for synergy in these domains and conclude that expanding collaboration will strengthen both fields and intensity their impact in research, clinical practice and policy-making.Keynote address at the Second Meeting of the International Society for Quality of Life Research, Montreal, Quebec, Canada, 14–17 October 1995.     

Replacement of the Descending Thoracic Aorta for Massive Aneurysm in Neonatal Marfan Syndrome

We describe a patient with neonatal Marfan syndrome presenting with massive ascending and descending thoracic aortic aneurysm. Because of rapidly progressive respiratory distress due to tracheobronchial compression, emergency replacement of the descending thoracic aorta with a 12-mm PTFE vascular prosthesis was undertaken at 1 month of age. The postoperative course was complicated by bilateral tension pneumothorax contributing to irreversible respiratory failure. The unique clinico-pathological features and the relevant surgical implications of the case are discussed. (J Card Surg 1994;9:109–114)     

Determinants of preventive practices of general practitioners in Torino, Italy.

We conducted a study of general practitioners in Torino, Italy, to determine their patterns of preventive practice. We examined a set of primary and secondary preventive interventions and their determinants. We explored the determinants of primary preventive interventions (antismoking and alcohol abuse counseling, counseling for prevention of accidents at home among the elderly, flu vaccination for the elderly, and counseling on contraceptive use) and cancer early detection techniques (chest x rays and sputum cytology for lung cancer; mammography, physical examination, teaching of breast self-examination, and Papanicolaou [Pap] smear for gynecological cancers). Grouping determinants in cognitive, sociodemographic, and organization factors, we found different patterns for each maneuver. Cognitive factors played an important role, but their importance varied for each intervention. We found that smoking behavior of physicians predicted antismoking counseling. Further, the availability of other primary care services is an important factor in the early detection of gynecological cancers.     

Assessing postoperative discomfort after third molar surgery: a prospective study.

PURPOSE: The purpose of this study was to identify the risk factors for severe discomfort after mandibular third molar surgery and to assess the validity of the Postoperative Symptom Severity (PoSSe) scale. PATIENTS AND METHODS: In a 2-year prospective study, a total of 255 unilateral impacted mandibular third molar teeth were surgically removed under local anesthesia by 3 surgeons. Standardized surgical and analgesic protocols were followed. At the review appointment, 1 week after surgery, all patients returned a completed follow-up questionnaire (PoSSe scale) and were evaluated clinically for postoperative pain (number of painkillers taken) and trismus (differences in mouth opening). Sixteen predictive variables were evaluated using stepwise logistic regression analysis to identify the risk factors associated with severe discomfort. RESULTS: Severe postoperative discomfort was predicted by these independent variables: gender, tobacco use, ramus relationship/space available, and antibiotic prophylaxis. Oral contraceptive use and operation time were not identified as risk factors. The patients' perceptions of the severity of symptoms (PoSSe scale score) was strongly correlated with clinical assessment of trismus (r = 0.54) and pain (r = 0.42). CONCLUSION: The PoSSe scale resulted in a valid and responsive measure of the severity of symptoms after surgical extraction of lower third molars and reflected the clinical severity of the postoperative discomfort. From a patient's perspective, operative factors had little bearing on the quality of life after removal of mandibular third molars.