Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1

Presentation of 11 cases of retroperitoneal sarcoma. Mean time from the beginning of symptoms to diagnosis is 6 months. The primary complementary study is CT. Surgery was performed in all cases, using complete resection in 6 cases, and partial resection in 5. Ten patients relapsed. 9 of which were treated with surgical rescue, in one or more occasions; chemotherapy was added in 6 cases and radiotherapy in 7. Survival at five years is 68%, with a mean follow-up of 66 months.     

Benign and malignant esophageal strictures: treatment with a polyurethane-covered retrievable expandable metallic stent

PURPOSE: To evaluate the clinical effectiveness of a polyurethane-covered, retrievable, self-expandable metallic stent and hook catheter in the treatment of esophageal strictures. MATERIALS AND METHODS: Stents were constructed of 0.4-mm stainless steel wire in a cylindric zig-zag configuration of six to nine bends. Four to eight stents were connected in tandem by dipping in a polyurethane solution. A nylon loop was hooked inside to each bend of the proximal portion of the stent and strung with a thread. Under fluoroscopic guidance, 22 stents were placed in 16 patients with a malignant stricture and five patients with a benign stricture. The stent was removed with a hook catheter 2 months after placement in patients with a benign stricture and when complications occurred in patients with a malignant stricture. All patients had dysphagia with ingestion of soft foods or liquids. RESULTS: Stent placement was technically successful and well tolerated in 20 patients. In one patient, the stent was misplaced but relocated successfully. After stent placement, all patients were able to ingest solid and/or soft foods without dysphagia. After stent removal, strictures showed improvement but recurred in two patients. CONCLUSION: Use of polyurethane-covered, retrievable expandable stents seems to be a feasible and effective method of treatment of benign and malignant esophageal strictures.     

Interaction of vitamins E and K: effect of high dietary vitamin E on phylloquinone activity in chicks

Age-standardised mortality rates are often used in epidemiologic studies to describe the dimension of social inequalities in mortality. This, however, conceals any age-dependence of social inequality. In an ecologic study, all causes and cause-specific mortality of all citizens of Bochum, FRG, who died 1988-1990, were evaluated using 13.171 death certificates. Data was aggregated on census tract level. The social status of a census tract was determined using 6 variables from the census 1987 describing the socio-economic situation in each census tract. Census tracts were grouped into quintiles according to their social status. Age and sex-specific mortality rates as well as rate ratios, using the quintile with the highest social status as reference, were calculated. Results for men (n = 6.288) indicate that social inequality is age-dependent for total mortality. Social differentials are especially marked for the age groups 35-64 years. For age group < 35 years and > 84 years no social differentiation in mortality is visible. Similar patterns are found with mortality from cardiovascular diseases (ICD-9: 390-459) and cancer (ICD-9: 140-208). Mortality from diseases related to health behaviour such as lung cancer or diseases associated with high alcohol intake are characterised by social inequalities above average in the middle age groups. For total mortality in women (n = 6.883) large social differentials are found for age groups 25-34 years and 45-54 years. Efforts to reduce social inequality on community level should especially be aimed at adolescents and young adults living in underprivileged areas.     

Association between intestinal vitamin D receptor, calcium absorption, and serum 1,25 dihydroxyvitamin D in normal young and elderly women

This paper systematically reviews the results from epidemiologic studies investigating the hypothesis that breast cancer risk in postmenopausal women increases with increasing concentrations of estradiol in blood and with increasing urinary estrogen excretion rates. Data from 29 epidemiologic studies of endogenous hormones and postmenopausal breast cancer were used. The ratio of the average estrogen concentration in the women with breast cancer to that in the women without breast cancer (and its 95 percent confidence interval [CI]) was calculated for each study, and the results were summarized by calculating weighted averages of the log ratios. In six prospective studies of serum estradiol concentration, 329 women who subsequently developed breast cancer had, overall, a 15 percent (CI = 6-24 percent, P = 0.0003) higher mean concentration of estradiol in their blood than the 1,105 women who remained free of cancer. The results of these prospective studies did not differ significantly from each other (chi2 for heterogeneity = 8.7; degrees of freedom = 5; P > 0.1). Similar differences in mean estrogen levels were seen in the case-control studies which reported either estradiol concentrations in the blood or urinary estrogen excretion. However, the case-control studies showed significant heterogeneity among their results. The data from the prospective studies strongly suggest that breast cancer risk in postmenopausal women is associated with relatively high concentrations of endogenous estradiol.     

Parotid gland metastases of two uncommon neoplasms with low metastatic potential

Oligodendrogliomas are uncommon intracranial glial tumours in which extracranial spread is only rarely reported. Similarly, both intracranial and ocular medulloepitheliomas are also rare, with metastatic spread from the ocular neoplasm being less common than its intracranial counterpart. We report cases of an intracranial oligodendroglioma and an ocular medulloepithelioma both of which metastasised to the parotid gland. To our knowledge these are only the second oligodendroglioma and the third ocular medulloepithelioma to be reported as metastasising to this site.