A family with autosomal dominant distal arthrogryposis multiplex congenita and brown syndrome

Arthrogryposis multiplex congenita is a heterogeneous condition found in a number of different disorders and characterized by congenital joint contractures. We describe typical signs of congenital Brown syndrome (inability to elevate the affected eye actively or passively in full adduction) in three relatives with distal arthrogryposis multiplex congenita. We found a thickening of the superior oblique muscles in these patients with pain and increased intraocular pressure in upgaze. The pathogenesis of clinical and morphological findings is discussed. The association of Brown syndrome with distal arthrogryposis multiplex congenita has not been previously reported and provides us with an important point of reference in the understanding of both syndromes.     

中空栓剂在医院制剂中的发展前景

目的 :展示一种新剂型中空栓剂作为医院制剂发展的前景及可行性。方法 :参考国内外文献 ,概括中空栓剂的特性 ,并介绍其处方设计和制备方法。结果 :中空栓剂具有生物利用度高 ,副作用小 ,制剂稳定性好 ,临床应用广泛等优点 ,而且便于个体化给药 ,尤适于小儿、呕吐及慢性病患者应用。其处方设计和制剂制备简单。结论 :中空栓剂在医院制剂室中发展 ,具有良好的可行性和广阔的开发前景。     

Nutritional support and growth in thalassaemia major

Twelve thalassaemic children under 3 years of age received intensive nutritional support for one month and were discharged on a prescribed diet of locally available foods. Anthropometry, bioelectrical impedance analysis and dietary intake were longitudinally assessed. Mean energy intake was 20% greater than the recommended daily allowance during nutritional supplementation as compared with below the recommended daily allowance before and after the period of nutritional support. Weight, but not height, significantly increased during the support period and was due to increases in both fat free mass and fat mass. Body weight, fat free mass and fat mass declined in line with the reduced intake upon return home; however, height velocity accelerated and exceeded normal through the fourth month before resuming a below normal rate. It can be concluded that (1) nutritional stunting as the result of reduced nutrient intake is an important cause of growth failure in young children with thalassaemia and is responsive to nutritional support, (2) the deficit in height velocity was due to retarded truncal height growth, and (3) the bioelectrical impedance analysis method is suitable for body composition analysis of thalassaemic children.     

Chemopreventive effects of the aromatase inhibitor vorozole (R 83842) in the methylnitrosourea-induced mammary cancer model

The chemopreventive activity of the highly specific nonsteroidal aromatase inhibitor, vorozole, was examined in the methylnitrosourea (MNU)-induced rat model of mammary carcinogenesis. Various doses of vorozole (0.08-1.25 mg/kg body wt/day) were administered daily (by gavage) to female Sprague-Dawley rats starting at 43 days of age. Seven days later, the rats were given a single i.v. dose of MNU (50 mg/kg body wt). Rats were continually treated with vorozole until the end of the experiment (120 days post-MNU). Vorozole caused a dose dependent inhibition of mammary cancer multiplicity. The highest dose of vorozole (1.25 mg/kg body wt/day) decreased cancer multiplicity by approximately 90%, and simultaneously decreased cancer incidence from 100 to 44%. The next two highest doses of vorozole (0.63 and 0.31 mg/kg body wt/day) inhibited MNU-induced mammary cancer multiplicity by 70-80%. Even the two lowest doses of vorozole (0.16 and 0.08 mg/kg body wt/ day) decreased cancer multiplicity -50%. Serum level determinations were performed on a variety of endpoints at either 4 or 24 h following the last dose of vorozole. Insulin-like growth factor (IGF)-1 levels were slightly, but significantly, increased by vorozole treatment. Vorozole induced striking increases in serum testosterone levels at 4 h at all the dose levels employed. Testosterone levels were significantly elevated over controls at 24 h in rats given the lower doses of vorozole (0.08-0.31 mg/kg body wt/day), but were significantly lower than in rats administered the higher doses of vorozole (0.63 or 1.25 mg/kg body wt/ day). This result presumably reflects the limited half- life of vorozole in rats. In a second series of experiments, the effects of limited duration of dosing with vorozole (2.5 mg/kg body wt/day) or intermittent dosing with vorozole were determined. Treatment of rats with vorozole for limited time periods, from 3 days post-MNU administration until 30 or 60 days post-MNU treatment, resulted in significant delays in the time to appearance of palpable cancers. However, these limited treatments did not greatly affect the overall incidence or multiplicity of mammary cancers when compared with the MNU controls at the end of the study (150 days post-MNU). Finally, the effects of intermittent dosing with vorozole (2.5 mg/kg body wt/day) were examined. Rats were administered cycles of vorozole daily for a period of 3 weeks followed by treatment with the vorozole vehicle for the next 3 weeks (total of four cycles). Although this intermittent treatment did inhibit the appearance of new tumors during each of the periods that vorozole was administered, it did not cause regression of palpable cancers.      

Resective surgical treatment of exocrine pancreas neoplasms. Retrospective study of 294 cases and review of the literature

Authors report their own experience on the treatment of pancreatic neoplasms. Two-hundred-ninety-four patients were observed during the years 1959-95. Resectability rate was 18%. Fifty-three patients underwent pancreatic resection: 22 distal pancreatectomies (41.5%), 2 total pancreatectomies (3.7%) and 29 pancreaticoduodenectomies (54.7%) (7 PPPD). Overall morbidity rate was 15.6% with decrease during the years of major postoperative complications. More frequent complications were renal failure (4%), bleeding (1.7%) and acute pancreatitis (5.6%), which was absent during the 1981-95 period. Pancreatic fistula occurred in 5.6%, but in the years 1981-95 only one patient suffered from it (1.8%). During the years 1959-70 operative mortality rate after pancreatic resection was 22.7%, during 1971-80 was 12.5% and during 1981-95 decreased to 4.3%. Patients with stage I tumours survived curative pancreatic resection for about 18.2 months, compared with those with stage II and III tumours, who survived for about 15 and 13 months, respectively. Recent studies have demonstrated a reduction in the morbidity and mortality of pancreatic resections and improvement in the actuarial 5-year survival for patients with resected ductal adenocarcinoma. In the presence of lymphnode metastases, pancreaticoduodenectomy offers good palliation and meaningful survival. In the absence of lymphnode metastases, pancreaticoduodenectomy offers encouraging long-term survival rates and a chance for cure.     

Benign thyroid disease: 20-year experience in surgical therapy

This retrospective study compares recurrence and postoperative complication rates after isthmo-lobectomy and subtotal thyroidectomy (group I) vs near-total and total thyroidectomy (group II) for benign thyroid disease. Seven hundred and forty-three patients were operated on for thyroid diseases over the period from 1977 to 1998. We considered 202 patients operated on for benign thyroid disease from 1988 to 1998. The follow-up ranged from 1 to 10 years (mean: 3.4 yrs). One hundred and thirty-two patients (65.3%) were operated on for bilateral nodular goitre, 35 (17.3%) for unilateral nodular goitre, 14 (6.9%) for toxic goitre and 21 (10.4%) for thyroiditis. Over the period 1988-1992, 19 patients underwent isthmo-lobectomy and 71 subtotal thyroidectomy (group I). From 1993 to 1998, 39 patients underwent near-total thyroidectomy and 61 total thyroidectomy (group II). The relapse rate was 14.4% in group I, while there were no recurrences in group II (p = 0.000064). Temporary hypocalcaemia was significantly higher (p = 0.000001) in group II (29%) than in group I (2.2%). Within group II, the rate was significantly higher (p = 0.0013) after total thyroidectomy (37.7%) than after near-total thyroidectomy (15.4%). In our experience, near-total and total thyroidectomy are an appropriate approach for preventing recurrence in patients with benign thyroid disease despite the fact that the risk of temporary hypocalcaemia is higher than after less radical surgery. Near-total thyroidectomy and the exercise of all due care in the surgical technique may help to reduce its incidence.     

Serum apolipoproteins, lipoproteins and fatty acids in relation to ischaemic heart disease in northern and southern European males

Serum apolipoprotein and lipoprotein concentrations, fatty acid spectra of various lipids, dietary habits and common risk factors for ischaemic heart disease were studied in 73 and 77 randomly selected, 50-year-old healthy men in Naples and Stockholm, respectively. Mean serum cholesterol concentration was higher in Stockholm than in Naples men (6.23 vs. 5.47 mmol/l, p less than 0.001) as were low (LDL) (4.08 vs. 3.57 mmol/l, p less than 0.001) and high (HDL) (1.40 vs. 1.25 mmol/l, p less than 0.001) density lipoprotein fractions. Mean serum triglyceride concentrations did not differ. Mean apolipoprotein B and C-I concentrations were higher in Stockholm men (1,116 vs. 1,020 mg/l, p less than 0.05 and 96 vs. 79 mg/l, p less than 0.01, respectively). Stockholm men derived significantly more of their calories from fat (38 vs. 28%, p less than 0.001) and the dietary fat had significantly lower polyunsaturated-to-saturated fatty acid ratio (P/S-ratio 0.29 vs. 0.51, p less than 0.001), and less from carbohydrate (44 vs. 49%, p less than 0.001) than Naples men, respectively. Mean caloric intake and mean weight/height index did not differ. Stockholm men had higher blood pressures, but there were more smokers among Naples men. The higher fat intake in Stockholm men may offer an explanation of the differences seen in lipoprotein and apoprotein concentrations and compositions but other factors, such as genetic influences cannot be excluded. A greater cholesterol flux through the plasma compartment in Stockholm men may be one important factor contributing to the higher incidence of ischaemic heart disease in this population.