Different genetic impact in the development of renal length and width: a twin study.

BACKGROUND: Ultrasound measurements of renal dimensions are conventionally limited to renal length, shape and cortical thickness. These are regarded as adequate for normal therapeutic decision-making and volume measurements are reserved for a few clinical trials. However, there is no evidence concerning the degree to which renal length or volume is independently susceptible to heritable and environmental influences. AIM: We aimed to determine whether renal length or width (as a surrogate of volume) was more influenced by heritability. METHODS: A single operator measured renal length and width in 114 adult monozygotic and same-sex dizygotic Hungarian twin pairs (mean age 43.6 ± 16.3 years), using an Esaote MyLab 70X ultrasound machine with curved array transducer (1-8 MHz, CA431). RESULTS: Analysis of within-pair co-twin correlations adjusted for age and gender showed that the age- and sex-adjusted heritability of average renal length was 51% (95% confidence interval, 29-72%). Renal width showed negligible genetic influence. Common environmental effects had no influence, and unshared environments were responsible for 49-80% of the variance, mainly renal width. CONCLUSIONS: This study is the first to demonstrate the moderate heritability and limited environmental influence on renal length, and the contrasting lack of heritability of renal width, which is mainly influenced by unshared environmental components, that is lifestyle habits. Renal width therefore better represents the influence of modifiable environmental factors than renal length. The results suggest that renal width not length should be reported to facilitate early detection and monitoring of renal disease.

MLH1 and MSH2 mutation screening in HNPCC families of Hungary - Two new MMR gene mutations.

INTRODUCTION: Hereditary Non-Polyposis Colorectal Cancer is an inherited disease with deleterious germline mutations in the DNA mismatch repair genes causing the development of colon cancer and other malignancies. This is the first study in Hungary screening the population of our colorectal cancer patients in order to identify the prevalence of the disease. METHODS: In families who met the Modified Amsterdam and Bethesda Criteria the removed tumor tissue was first examined by immunohistochemistry and microsatellite instability analysis. Those cases which showed high microsatellite instability underwent DNA sequencing and multiple ligation dependent probe amplification. RESULTS: Of the 1576 patients with colorectal cancer underwent screening for the modified Amsterdam and Bethesda criteria, 69 (4.4%) and 166 (10.5%) fulfilled the criteria respectively. 15 patients (31%) of the Amsterdam positive group and 19 patients from the Bethesda positive (18.1%) were MSI-H. There were 8 pathogenic mutations identified in 9 families (60%) in the Amsterdam positive group. 5 mutations were found in 5 families (26%) in the Bethesda positive group. 12 pathogenic mutations were identified, two of these are newly identified, and being published first in this work. These two new mutations were located on MLH1 (g.31276_35231del) and MSH2 (c.969_970delTC) genes. CONCLUSION: The prevalence of the mutations in the MLH1 and MSH2 genes was almost equal in our Hungarian colorectal cancer patients. One mutation in the MLH1 gene (c.143A > C; p.Q48P) was identified in three different families. Whether this mutation is the most frequent in the Hungarian population is still unidentified and warrant further investigation.

Heritability of arterial stiffness and carotid intima-media thickness: an Italian twin study.

BACKGROUND AND AIMS: Carotid intima-media thickness (IMT) and arterial stiffness parameters, including aortic augmentation index (AIx) and pulse wave velocity (PWV), are independent predictors of stroke and cardiovascular disease. Genetic effects on these traits were never explored in a Mediterranean country. The present study aims to quantify the contribution of genes, environment and age to carotid IMT and aortic Aix and PWV. METHODS AND RESULTS: The twin design was used. A total of 348 adult twins from the Italian Twin Register underwent measurements of carotid IMT and aortic PWV and AIx in three university hospitals located in Rome, Padua and Perugia. Carotid IMT was measured by B-mode ultrasound, aortic PWV and AIx by Arteriograph. Genetic modelling was performed to decompose total variance of traits into genetic, shared and unshared environmental and age components. For each phenotype, the best-fitting model included additive genetic, unshared environmental and age effects. For IMT, heritability was 0.32 (95% confidence interval (CI): 0.25-0.38), unshared environmental component was 0.25 (0.18-0.32) and age contribution was 0.44 (0.39-0.49). For AIx and PWV, heritabilities were 0.42 (0.29-0.55) and 0.49 (0.35-0.62), unshared environmental components were 0.31 (0.22-0.44) and 0.37 (0.26-0.51) and age contributions were 0.27 (0.16-0.39) and 0.14 (0.06-0.24), respectively. CONCLUSION: This study shows substantial genetic and unshared environmental influences on carotid intima-media thickness and arterial stiffness and confirms the relevant role of age in the aetiology of these traits. Further support is provided for prevention and health promotion strategies based on modifiable factors.

The value of 18-FDG PET/CT in early-stage breast cancer compared to traditional diagnostic modalities with an emphasis on changes in disease stage designation and treatment plan.

BACKGROUND: Proper preoperative staging is vital in the treatment of breast cancer patients. The aim of our study was to assess the value of the diagnostic information provided by PET/CT in surgical practice in breast cancer cases considered early-stage by conventional diagnostic modalities. METHODS: Whole-body 18-FDG PET/CT was performed on 115 breast cancer patients in whom traditional diagnostic modalities showed no signs of distant metastases or extensive axillary and/or extra-axillary lymphatic spreading, and the size of the primary tumor was <4 cm. RESULTS: The sensitivity of PET/CT in the detection of the primary tumor was 93%. The sensitivity of the traditional diagnostic modalities in the detection of multifocality was 43.8% while that of PET/CT was 100% (p < 0.001). In the assessment of axillary lymph nodes, ultrasound had a sensitivity of 30% and a specificity of 95%. The corresponding estimates for PET/CT were 72% and 96%, respectively. PET/CT detected distant metastases in 8 patients. TNM classification was modified after PET/CT scanning in 54 patients (47%). PET/CT data changed the treatment plan established upon the results of traditional imaging modalities in 18 patients (15.6%). CONCLUSIONS: PET/CT is able to assess primary tumor size and axillary lymphatic status more accurately than traditional diagnostic methods. It can detect distant metastases in 7-8% of those patients who were declared free of metastasis by clinical investigations. PET/CT scan modifies the disease stage determined by traditional diagnostic modalities in almost half of the patients and leads to a change in the treatment plan in every 6th patient.

[The role of MIBI scintigraphy in the early detection of breast cancer]. / A MIBI szcintigráfia szerepe az emlórákok korai diagnosztikájában.

The authors investigate the role of MIBI scintigraphy in the early diagnosis of breast cancer. The importance of early diagnosis is emphasized by the fact that breast cancer has the highest morbidity and mortality preceding cervical carcinoma amongst women. Retrospective examinations were made in case of 42 patients operated before because of breast cancer in order to examine accuracy of both mammography and scintigraphy in comparison with the results of histological diagnosis. In these cases sensitivity of scintigraphy turned out to be 69%, while its specificity 42%. In cases of mammographical investigations the sensitivity proved to be 74% and specificity was 61%. Besides mammography, scintigraphy has a very important additional role in the diagnosis of breast cancer. Because of its results and costs scintigraphy is not able to take over the mammography's dominant position (as a popular diagnostic method) but in selected patients' groups it can help to realise tumors as well as to avoid unnecessary operations or needle biopsis. Based on our results this method can give significant additional information in T1b and especially in T1c states of tumors. Therefore this method can be offered as an additional investigation in cases of physically realised or mammographically screened, but not-palpable, larger than 1 cm size lumps when there is little or moderate risk of malignancy.

[Changes in the surgical treatment of breast cancer]. / Szemléletváltozás az emlórák sebészi kezelésében.

Changes in radicality of breast cancer surgery between 1991 and 2000 are issued in this paper. While breast conserving surgery was performed in 26 cases (25%) out of 103 in 1991, in the year 2000 165 patients were operated of breast cancer and the breast was preserved in 143 cases (87%). These results are partly approved by the breast cancer screening performed by physical examination since 1981 and also by mammography since 1998. The five-year overall survival of patients who had been operated between 1991 and 1994 is 90%, the local recurrency rate is 6%. Considering these data breast preserving surgery is a reliable method.

Surgical treatment of gastric cancer: a retrospective study with special reference to epidemiology.

The present retrospective study gives the analysis of the epidemiological data of 1474 patients with gastric cancer, who were operated on at the 1st Department of Surgery of the University Medical School of Debrecen in the course of 35 years. In spite of the changes in diagnostics and therapeutic management it was impossible to raise, during this period, the rate of resectability: in the first 10 years it was 56%, and 55% in the last five years. There was no improvement in the proportion of curative and palliative resection, either: 50/6 vs 49/6. The number of gastrectomies increased to 22.5% from 17%, in a quarter of the cases, in the last two periods, extended multivisceral interventions were also performed. In the location of resectable carcinomas the number of those spreading over more than one third increased from 2% to 7%, and similar growth was encountered in the rate of diffuse-type carcinomas. The postoperative surgical complications decreased to 18% from 27%, and early postoperative death from 19.6 to 10.1%. In the last two periods 46% of the patients were admitted in advanced stages of tumor (UICC III B or IV), with half a year's or longer histories. Exclusively surgical treatment is not effective in these cases.

[Operability of pancreatic carcinoma, surgical experience]. / A pancreas-carcinoma operabilitása, sebészi kezelésének tapasztalatai.

The authors analyse and evaluate the clinical records of 251 patients operated on during the last 14 years for pancreatic cancer, comparing the results with data in the literature. Among the surgical procedures there were 42 resections of the pancreas, 106 palliative bypass operations and 103 explorative laparotomies. The rate of resectability was 16.7% considering the whole period but it was 21.5% for the second seven-year period. The mortality rate of the palliative and resection operations was 14.2% and 14.3 respectively, it was the highest after explorative laparotomies (22.3%). Among the palliative operations choledochojejunostomy came into prominence opposed to cholecystojejunostomy, however choledochoduodenostomy was the most frequent operation. The authors did not routinely perform GEA together with biliary bypass surgery. As to the radical operations, pylorus preserving pancreatoduodenectomy was applied in the greatest numbers (22 from 42). Late survival after resection operations, palliative procedures and laparotomies was 15.2, 5.6 and 2.1 months respectively. On the basis of the early results and survival times the authors regard it necessary to perform resection operations instead of the palliative procedures.