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%.     

Pathophysiology of urinary dysfunction in multiple sclerosis

Neurological Sciences - Bladder and urethra are innervated peripherally by pelvic parasympathetic, lumbar sympathetic and pudendal nerves; but a complex of brain networks is involved in the...     

Correlation of serum metalloproteinase levels with lung cancer metastasis and response to therapy.

Cancer cells elaborate metalloproteinases which may play a role in invasion and metastasis. The serum level of the M(r) 72,000 type IV collagenase (MMP-2) was measured in 87 lung cancer patients. Stage IV cancer levels were significantly elevated (P less than 0.0001) compared to normal sera. A significant difference (P less than 0.01) was found between enzyme levels in the presence versus the absence of distant metastasis. For 29 patients treated with combination chemotherapy, a positive relationship was noted between response failure and elevated enzyme levels. Serum metalloproteinase levels may provide information relevant to prognosis as well as treatment decisions.     

Non-invasive detection of coronary artery disease by dobutamine-stress echocardiography in children after heart transplantation.

BACKGROUND: Coronary vasculopathy is the main cause of cardiac graft failure. Because yearly coronary angiography is invasive in children, a non-invasive method for detecting graft vasculopathy is needed. The aim of this study was to test dobutamine-stress echocardiography in a pediatric population to determine its feasibility, safety and reliability in the detection of graft coronary artery disease. METHODS: Eighteen patients, aged 2 days to 16.8 years at transplantation (mean 8.4 years), underwent 44 dobutamine-stress echocardiography (DSE) exams, at a follow-up of 1.1 to 11.8 years (mean 5.1 years). Selective coronary angiography was performed for comparison. Echocardiographic recordings were obtained in 4 standard views of the left ventricle and measurements carried out within the frames of a 16-segment model. Segmental scores of contractility were obtained for each segment and a total segmental contractility index was calculated at each stage. RESULTS: All patients reached the maximum dose stage. Maximum heart rate was 57% to 90% of predicted maximum. Maximum systolic blood pressure reached 190 mmHg. Segmental scores were normal in 37 and abnormal in 7 cases. Echographic results were concordant with angiography in 82% and discordant in 18% of the cases (4 negative DSEs with minor angiographic lesions, 2 positive DSEs with normal angiography), but there was no significant angiographic lesion with normal DSE. CONCLUSIONS: DSE is a safe and highly feasible non-invasive technique in transplanted children. A normal DSE study successfully predicts the absence of significant coronary artery disease in the post-transplant population.     

Fine-needle aspiration biopsies of breast masses. An additional experience with 1153 cases (1985 to 1988) and a meta-analysis.

A series of 1153 fine-needle aspiration biopsies (FNAB) of breast masses obtained during the period 1985 to 1988 in one institution was examined. The following diagnostic accuracy values were found: sensitivity, 93.0%; specificity, 92.4%; predictive positive value, 93.7%; and efficiency, 92.8%. These results were compared with a previously published series for the period 1976 to 1984. The diagnostic accuracy values did not differ significantly between the two series.     

Fungal infections in cancer patients: An international autopsy survey

In an attempt to estimate the frequency of fungal infections among cancer patients, a survey of autopsy examinations was conducted in multiple institutions in Europe, Japan and Canada. Fungal infections were identified most often in leukemic patients and transplant recipients (25 % each). Fifty-eight percent of fungal infections were caused byCandida spp. and 30 % byAspergillus spp. There was considerable variability in the frequency of fungal infections in different countries. Nevertheless, this study clearly demonstrates that fungal infections represent a common complication in cancer patients, especially in patients with leukemia.     

Repetitive conservative surgery for recurrence of endometriosis

We evaluated the recovery of fertility and the relief of pain symptoms in a long-term follow-up of 42 women undergoing repetitive conservative surgery for recurrent endometriosis. The mean age of the patients was 31.1 +/- 4.3 years. At the time of their second operation the disease was stage IV in 14 women, stage III in 25, and stage I in three. After reoperation, the patients were followed for a mean period of 41.8 +/- 30.3 months. Pain symptoms returned in eight women, dysmenorrhea and deep dyspareunia in eight, and pelvic pain in seven. Eight of the 28 women (28.6%) who attempted to conceive achieved a total of 13 pregnancies. The corrected pregnancy rate was 35%, and the cumulative rate at 27 months was 30.7%. A third operation was necessary in six women after a mean period of 35 months. Conservative surgery is an effective therapeutic option for infertile patients with recurrent endometriosis.     

Central sensory and motor conduction in vitamin B12 deficiency.

Four patients with subacute combined degeneration were studied through upper and lower limb SEPs recorded with a non-cephalic reference montage and through cortical and spinal magnetic stimulation. Clinical signs were confined to the lower limbs in 3 patients; the remaining patient presented only paraesthesiae in 4 limbs. Median nerve SEPs showed a normal cervical N13 response with a significant increase of central conduction time concerning exclusively the P9-P14 interpeak interval. Central motor conduction to upper and lower limb muscles was abnormal. Nerve conduction studies provided no evidence of peripheral nerve involvement. These electrophysiological findings suggest that in vitamin B12 deficiency the higher segments of the cervical cord are usually affected first and that central sensory and motor conduction studies are sensitive methods for detecting such damage.     

白细胞介素—2新的功能位点及其中枢镇痛作用

白细胞介素－２（ＩＬ－２）不仅是重要的免疫调节因子，而且还具有重要的中枢调节作用。本实验以钾离子透入引起大鼠甩尾反应为指标，发现侧脑室注射ＩＬ—２能显著提高动物痛阈，并能被纳洛酮所阻断，表示ＩＬ－２的中枢镇痛作用可能与阿片受体有关。利用基因定位突变技术获得的无免疫活性ＩＬ－２实查体仍具有中枢镇痛作用，表明ＩＬ—２分子上发挥镇痛和免疫调节作用的功能位点是相互独立的。纳洛酮能够阻断ＩＬ—２的中枢镇痛作用，而不能影响ＩＬ—２增殖ＣＴＬＬ－２细胞的作用，提示ＩＬ－２发挥镇痛和免疫调节作用可能通过不同的受体途径。ＩＬ－２分子中第４５位Ｔｙｒ残基突变为Ｖａｌ后，虽仍保留了免疫活性，但丧失了镇痛功能，表示４５位Ｔｙｒ残基是ＩＬ—２发挥中枢镇痛功能的关键残基之一。我们推测ＩＬ—２的镇痛功能位点可能在ＩＬ—２分子中第４５位Ｔｙｒ残基附近区域。     

Social desirability and irritable bowel syndrome.

The Marlowe-Crowne Social Desirability Scale, a 33-item self-report questionnaire, was administered to an age-matched sample of twenty-five irritable bowel syndrome (IBS) patients, twenty-four psychiatric patients meeting a diagnosis of major depression, and nineteen controls. As predicted, planned comparisons analysis showed a significant group effect: IBS group scores were significantly higher than both depressed and control group scores (p less than .05). Implications of this social desirability response set for the psychological assessment and treatment of IBS are discussed.