REM sleep behavior disorder and vocal cord paralysis in Machado-Joseph disease.

We evaluated the occurrence of REM sleep behaviour disorder (RBD) and vocal cord abductor paralysis (VCAP) in a group of 9 Machado-Joseph disease (MJD) patients. RBD was diagnosed by clinical history plus audiovisual polysomnography in 4 men and 1 woman (55%). While dreaming, 4 fell out of the bed and the other injured his arms. Laryngoscopy detected bilateral VCAP in 1 patient with stridor who required emergency tracheotomy, and partial vocal cord abductor restriction in 2. RBD and VCAP are two potentially injurious conditions that should be considered part of the clinical spectrum of MJD.     

Loss of cables, a novel gene on chromosome 18q, in ovarian cancer.

Cables, a cyclin-dependent kinase (cdk) interacting protein, has recently been identified and mapped to human chromosome 18q11. Cables appears to be primarily involved in cell cycle regulation and cell proliferation. Overexpression of Cables in Hela and other cell lines inhibits cell proliferation and tumor formation. We hypothesize that loss of Cables expression is associated with ovarian cancer. To test our hypothesis, we examined Cables expression in the four most common subtypes of ovarian carcinomas: serous, endometrioid, mucinous, and clear cell. In addition, mucinous and serous borderline tumors were also included. Loss of Cables expression was observed at high frequency in ovarian serous (11 of 14 cases, 79%) and endometrioid (5 of 10 cases, 50%) carcinomas. In contrast, strong Cables staining was detected in all clear cell carcinomas (10 cases) and mucinous tumors (5 carcinomas and 5 borderline tumors). The majority of serous borderline tumors (11 of 14 cases, 79%) showed positive Cables staining, with the rest showing focal loss of Cables expression. Furthermore, RT-PCR revealed the lack of Cables mRNA in a human ovarian cancer xenograft. No correlation was noted between loss of Cables and histologic grade, tumor stage, and survival. In conclusion, our results indicate that loss of Cables is common in ovarian serous and endometrioid carcinomas and imply that Cables may be involved in the pathogenesis of these two types of ovarian carcinomas.     

Tissue characterization of symptomatic and asymptomatic disc herniations by quantitative magnetic resonance imaging

The purpose of this investigation was to determine differences in tissue composition of symptomatic and asymptomatic disc herniations as reflected in T₁ and T₂ relaxation times (quantitative magnetic resonance investigation of the lumber spine. The longitudinal and transverse magnetic rlaxation times (T₁ and T₂, respectively) were calculated from a set of 20 images obtained with five single-slice/multi-echo sequences at different repetition time values on a commercial whole-body system (1.5 T). Twenty-two symptomatic and asymptomatic disc herniations could be matched according to age, gender, disc level, and the extent of herniation (protrusion or extrusion) and were compared with regard to T₁ and T₂ relaxation times. Symptomatic disc herniations exhibited significantly (p_T1 < 0.04 and p_T2 < 0.003) shorter T₁(ΔT₁:–182.1 milliseconds, ?15%) and T₂(ΔT₂: ?11.0 milliseconds, ?21%) relaxation times than matched asymptomatic herniations. Symptomatic disc herniations also exhibited more advanced disc degeneration as graded by Pearce's criteria (p < 0.01). These results suggest that symptomatic and morphologically matched asymptomatic disc herniations differ with regard to disc matrix composition.     

Magnetic resonance in the diagnosis of aneurysmal bone cyst]

A patient of 12 suffering from aneurysmal cyst of the ischium was studied with traditional radiology, computed tomography (CT) and magnetic resonance imaging (MRI). The advantages of MRI in the study of this pathology compared to traditional radiography and CT are assessed. It was shown that the CT and MRI techniques are superior to standard X-ray examinations in anatomic definition and in evaluating the lesions's relationships with neighbouring structures and, in particular, that MRI is superior to CT in extension.     

Labour management. Our experience.

We report a retrospective analysis of 1202 deliveries assisted by the same medical team, evaluating the clinical management of labour and the resulting type of delivery. Examination of the data revealed a gradual reduction in the number of deliveries treated pharmacologically accompanied by a reduction in the incidence of operative deliveries from 16% to 6%. Statistical analysis of the data using X2 test demonstrated a clear correlation between the administration of oxytocin and the incidence of operative deliveries (p less than or equal to 0.001). We believe that the indiscriminate use of oxytocin in labour should be avoided and that the pharmacological and operative management of labour requires precise clinical indications.     

Lymphoepithelioma-like carcinoma of the skin: A light-microscopic and immunohistochemical study

Cutaneous carcinoma histopathologically resembling nasopharyngeal carcinoma has been termed lymphoepithelioma-like carcinoma of the skin. We present an additional example of this rare cutaneous neoplasm that was located on the left temple of an 83-year-old woman. Serology for Epstein-Barr virus was negative, and exploration of the nasopharyngeal region disclosed no abnormalities. Histopathologically, the neoplasm consisted of a relatively well-circumscribed, dermal-hypodermal nodule composed of irregular aggregates of epithelial cells with vesicular nuclei, some of them in mitosis, and scant cytoplasm. A dense lymphocytic infiltrate was present within the neoplastic aggregates, obscuring the epithelial component, and at scanning magnification, the lesion closely resembled cutaneous lymphoma or pseudolymphoma. There was local sebaceous differentiation. Immunohistochemistry showed positivity in the epithelial component for AE1/AE3 and AEB-903 cytokeratins and negativity for 8–18 cylokeratins. The inflammatory infiltrate was positive for leukocyte common antigen, UCHL-1, L-26, Leu-22, and OPD-4 in variable proportions. Scattered cells within this inflammatory infiltrate were also positive for S-100 protein, vimentin, HAM-56, and MAC-387. In situ hybridization investigations for the presence of Epstein-Barr virus genomic DNA yielded negative results. Lymphoepithelioma-like carcinoma of the skin is a distinct cutaneous neoplasm of unknown histogenesis, although some foci of adnexal differentiation have been found in some specimens. The possibility of cutaneous metastasis from occult nasopharyngeal carcinoma should be ruled out.
Requena L, Sánchez Yus E, Jiménez E, Roo E. Lymphoepithelioma-like carcinoma of the skin: A light-microscopic and immunohistochemical study.     

Multiple sclerosis: genetic versus environmental aetiology: epidemiology in Israel updated

The incidence and prevalence of multiple sclerosis (MS) were compared, controlling for age, in native-born Israelis of different origins and in immigrants to Israel. This comparison was carried out in two populations, countrywide and in Jerusalem. In the countrywide population, ascertainment was based mainly on hospitalizations; it included 252 patients who were native-born and 150 who had immigrated from Africa-Asia (AA immigrants). The 89 MS patients of Jerusalem also included patients diagnosed in outpatient clinics. In native-born Israelis whose father was born in Europe-America (I-EA), the incidence and prevalence of MS were found to be as high as or even higher than that found previously in immigrants from Europe-America. Among native-born Israelis whose father was born in Africa or Asia (I-AA), the yearly age-adjusted incidence and prevalence rates were found to be 1.4- to 1.8-fold higher than among AA immigrants, pointing to environmental factors. The incidence and prevalence rates in the I-EA were 1.2- to 1.6-fold higher than in the I-AA, pointing to genetic factors. These results seem to point to both environmental and genetic factors in the aetiology of MS. Further research is needed, however, to disentangle the genetic factors from possible environmental differences in the two ethnic groups.