Lafora's disease is a form of progressive myoclonic epilepsy characterized by seizures, myoclonus and dementia. We present the case of a 12-year-old girl who is complaining of epilepsy and myoclonic jerks starting a year ago, with deterioration of school performance, and abnormal EEG. The axillary skin biopsy showed PAS-positive inclusions in the cells of sweat glands, typical of Lafora's disease.
This study has three objectives. 1) First to establish the influence of flow cytometry and hormone receptors on overall survival and disease free survival of stage I to IIIA breast cancer patients. 2) Second to search for associations between the classical prognostic factors: age, menopausal status, histological and nuclear grading, tumor diameter, node metastases, stage, estrogen and progesterone receptors (ER, PR), as well as ploidy and S phase fraction. 3) And third to evaluate the effect of flow cytometry and hormone receptors on the response to neoadjuvant chemotherapy in stage IIIB and IV patients.The series is composed of 150 patients with primary invasive breast cancer (149 females and one male), diagnosed at the St George Hospital Pathology Department and in whom an evaluation of the hormone receptors and a measuring, by flow cytometry, of ploidy and S phase fraction (SPF) were performed. Among them, 68 were followed for a mean period of 45 months. The disease free survival and the overall survival were recorded as well as the response to neoadjuvant chemotherapy.The authors did not find any statistically significant difference in survival between diploid and aneuploid tumors, tumors with SPF above and below 8%, those who are ER+ and ER- and those who are PR+ and PR-. But it seemed that diploid, low SPF and positive hormone receptors tumors had a tendency toward a better disease free survival. The multivariate analysis using the Cox proportional hazards identified the tumor diameter as being the only independent prognostic factor (p = 0.046). The nuclear grade reached a limit of significance (p = 0.08). Diploidy, low SPF and positivity of ER and PR were associated one to the other and to low histologic and nuclear grades. Finally, neither flow cytometry parameters nor hormone receptors were predictive of a susceptibility to neoadjuvant chemotherapy.
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