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265 Publications visible to you, out of a total of 265
Automated detection of the choroid boundary within OCT image data using quadratic measure filters.
LIFE Child

Abstract (Expand)

A novel method for the automated detection of the outer choroid boundary within spectral-domain optical coherence tomography image data, based on an image model within the space of functions of bounded … variation and the application of quadratic measure filters, is presented. The same method is used for the segmentation of retinal layer boundaries and proves to be suitable even for data generated without special imaging modes and moderate line averaging. Based on the segmentations, an automated determination of the central fovea region and choroidal thickness measurements for this and two adjacent 1-mm regions are provided. The quality of the method is assessed by comparison with manual delineations performed by five trained graders. The study is based on data from 50 children of the ages 8 to 13 that were obtained in the framework of the LIFE Child study at Leipzig University.

Authors: M. Wagner, P. Scheibe, M. Francke, B. Zimmerling, K. Frey, M. Vogel, S. Luckhaus, P. Wiedemann, W. Kiess, F. G. Rauscher

Date Published: 1st Feb 2017

Publication Type: Journal article

Diabetes and hypertension contribute to normal-appearing white matter microstructural variability in the brain
LIFE - Leipzig Research Center for Civilization Diseases

Abstract (Expand)

Background and objectives: Obesity has been associated with increased risk of dementia. Grey and white matter (WM) of the brain are commonly used as biomarkers for early detection of dementia. However, … considering WM, available neuroimaging studies had mainly small sample size and yielded less conclusive results (Kullmann et al., 2015). Recently, a positive correlation between obesity and fractional anisotropy (FA) in a middle age group was reported (Birdsill et al. 2017). Furthermore, obesity is related to many medical problems such as diabetes and hypertension. Diabetes and hypertension were found to be correlated with brain structures independently (de Leeuw et al., 2002; Weinstein et al., 2015). Yet, studies rarely investigated non-lesion WM microstructure and its association with diabetes and blood pressure. Therefore we aim to investigate the relation between abdominal obesity, diabetes, blood pressure and WM microstructural variability in a large cohort of community-dwelling healthy adults. Methods: The sample included dementia-free participants (mean age 55 ± 16 years; 50.7% women) of the LIFE cohort with brain MRI scans (n = 1255). WM microstructure was measured with diffusion tensor imaging (DTI). Mean FA was derived from the individual WM skeleton processed by tract-based-spatial-statistic method. Linear regression models were used to assess the relationships between diabetes, blood pressure, waist to hip ratio (WHR) and DTI parameters. Adjustments were made for age, sex, education and Apoe4. Results: The preliminary result indicated diabetes, systolic blood pressure and WHR were independently associated with lower FA, and diabetes explained the most variance besides age. Subgroup analysis revealed both systolic blood pressure and WHR were negatively associated with mean FA in the non-diabetes group (n=1101). Conclusions: The preliminary result of our study indicates that diabetes accelerated brain aging on directional diffusion of WM. Abdominal fat and blood pressure were associated with WM variabilities independently from age, sex and diabetes. With subsequent analysis of additional DTI measures, blood parameters, WM hyperintensity maps and voxel-based microstructural WM “integrity”, we aim to further characterize the associations between obesity, diabetes, blood pressure and WM microstructure. This will contribute to the existing literature and help to disentangle the underlying mechanism.

Authors: Rui Zhang, Frauke Beyer, L. Lampe, T. Luck, S. G. Riedel-Heller, M. Stumvoll, Markus Löffler, M. L. Schroeter, A. Villringer, A. V. Witte

Date Published: 2017

Publication Type: Not specified

Human Diseases: diabetes mellitus, obesity, hypertension

Research in Progress on Integrating Health and Environmental Data in Epidemiological Studies
LIFE - Leipzig Research Center for Civilization Diseases

Abstract (Expand)

Epidemiological studies analyze and monitor the health state of a population. They typically use different methods and techniques to capture and to integrate data of interest before they can be analyzed. … As new technologies and, thus, devices are available for data capturing, such as wearables, new requirements arise for current data integration approaches. In this paper, we review current techniques and approaches as well as new trends in data capturing and the resulting requirement for its integration.

Authors: T. Kirsten, J. Bumberger, G. Ivanova, P. Dietrich, C. Engel, M. Loeffler, W. Kiess

Date Published: 2017

Publication Type: InBook

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

PURPOSE Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate …e whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways. METHODS Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2. RESULTS We identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most significant SNP rs228595 p = 7 \times 10-6). This association was absent in BRCA2 carriers (p = 0.57). The 11q22.3 region notably encompasses genes such as ACAT1, NPAT, and ATM. Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for ACAT1, ATM, and other genes. In silico analysis revealed some overlap between top risk-associated SNPs and relevant biological features in mammary cell data, which suggests potential functional significance. CONCLUSION We identified 11q22.3 as a new modifier locus in BRCA1 carriers. Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.

Authors: Yosr Hamdi, Penny Soucy, Karoline B. Kuchenbaeker, Tomi Pastinen, Arnaud Droit, Audrey Lemaçon, Julian Adlard, Kristiina Aittomäki, Irene L. Andrulis, Adalgeir Arason, Norbert Arnold, Banu K. Arun, Jacopo Azzollini, Anita Bane, Laure Barjhoux, Daniel Barrowdale, Javier Benitez, Pascaline Berthet, Marinus J. Blok, Kristie Bobolis, Valérie Bonadona, Bernardo Bonanni, Angela R. Bradbury, Carole Brewer, Bruno Buecher, Saundra S. Buys, Maria A. Caligo, Jocelyne Chiquette, Wendy K. Chung, Kathleen B. M. Claes, Mary B. Daly, Francesca Damiola, Rosemarie Davidson, Miguel de La Hoya, Kim de Leeneer, Orland Diez, Yuan Chun Ding, Riccardo Dolcetti, Susan M. Domchek, Cecilia M. Dorfling, Diana Eccles, Ros Eeles, Zakaria Einbeigi, Bent Ejlertsen, Christoph Engel, D. Gareth Evans, Lidia Feliubadalo, Lenka Foretova, Florentia Fostira, William D. Foulkes, George Fountzilas, Eitan Friedman, Debra Frost, Pamela Ganschow, Patricia A. Ganz, Judy Garber, Simon A. Gayther, Anne-Marie Gerdes, Gord Glendon, Andrew K. Godwin, David E. Goldgar, Mark H. Greene, Jacek Gronwald, Eric Hahnen, Ute Hamann, Thomas v. O. Hansen, Steven Hart, John L. Hays, Frans B. L. Hogervorst, Peter J. Hulick, Evgeny N. Imyanitov, Claudine Isaacs, Louise Izatt, Anna Jakubowska, Paul James, Ramunas Janavicius, Uffe Birk Jensen, Esther M. John, Vijai Joseph, Walter Just, Katarzyna Kaczmarek, Beth Y. Karlan, Carolien M. Kets, Judy Kirk, Mieke Kriege, Yael Laitman, Maïté Laurent, Conxi Lazaro, Goska Leslie, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Niklas Loman, Jennifer T. Loud, Siranoush Manoukian, Milena Mariani, Sylvie Mazoyer, Lesley McGuffog, Hanne E. J. Meijers-Heijboer, Alfons Meindl, Austin Miller, Marco Montagna, Anna Marie Mulligan, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Robert L. Nussbaum, Edith Olah, Olufunmilayo I. Olopade, Kai-Ren Ong, Jan C. Oosterwijk, Ana Osorio, Laura Papi, Sue Kyung Park, Inge Sokilde Pedersen, Bernard Peissel, Pedro Perez Segura, Paolo Peterlongo, Catherine M. Phelan, Paolo Radice, Johanna Rantala, Christine Rappaport-Fuerhauser, Gad Rennert, Andrea Richardson, Mark Robson, Gustavo C. Rodriguez, Matti A. Rookus, Rita Katharina Schmutzler, Nicolas Sevenet, Payal D. Shah, Christian F. Singer, Thomas P. Slavin, Katie Snape, Johanna Sokolowska, Ida Marie Heeholm Sønderstrup, Melissa Southey, Amanda B. Spurdle, Zsofia Stadler, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Christian Sutter, Yen Tan, Muy-Kheng Tea, Manuel R. Teixeira, Alex Teulé, Soo-Hwang Teo, Mary Beth Terry, Mads Thomassen, Laima Tihomirova, Marc Tischkowitz, Silvia Tognazzo, Amanda Ewart Toland, Nadine Tung, Ans M. W. van den Ouweland, Rob B. van der Luijt, Klaartje van Engelen, Elizabeth J. van Rensburg, Raymonda Varon-Mateeva, Barbara Wappenschmidt, Juul T. Wijnen, Timothy Rebbeck, Georgia Chenevix-Trench, Kenneth Offit, Fergus J. Couch, Silje Nord, Douglas F. Easton, Antonis C. Antoniou, Jacques Simard

Date Published: 2017

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

Sexual and reproductive health of young people with disability in Ethiopia: a study on knowledge, attitude and practice: a cross-sectional study
LIFE Adult

Abstract (Expand)

Background As is common in developing countries, in Ethiopia young people with disabilities (YPWD) are more likely than the general population to be illiterate, unemployed and impoverished. They often … lack equal access to information and education for reasons ranging from barriers regarding physical access to services to varied special learning needs. Very little is known about knowledge, attitude and practice (KAP) of YPWD regarding sexual and reproductive health (SRH) related issues. We, therefore, aimed to assess the KAP of 426 YPWD in Addis Ababa, Ethiopia. Methods A cross-sectional survey was conducted in 2012. Data were collected by trained interviewers using a structured questionnaire covering socio-demographic information, as well as information on KAP regarding SRH. Results Only 64.6 % of YPWD were aware of SRH services. Radio and TV were mentioned as the main sources of information by 62.2 % of the participants. 77.9 % had never had a discussion about SRH topics with their parents. Even though 96.7 % of the respondents had heard about HIV, 88 % had poor knowledge about ways of preventing HIV. Perception of the risk of getting infected with HIV was found to be generally low in YPWD; only 21.6 % believed that they were at risk of acquiring HIV. Conclusions Our study, in general, demonstrated that there is a lack of comprehensive knowledge, appropriate practice and favorable attitude of YPWD regarding different SRH-related issues. Our findings thus clearly indicate the need for strategies and programs to raise SRH-related awareness and to help YPWD to develop the appropriate skills and attitudes needed for a healthy reproductive life.

Authors: T. A. Kassa, T. Luck, A. Bekele, S. G. Riedel-Heller

Date Published: 1st Dec 2016

Publication Type: Journal article

Effects of lifestyle intervention in BRCA1/2 mutation carriers on nutrition, BMI, and physical fitness (LIBRE study): study protocol for a randomized controlled trial
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

BACKGROUND Women with highly penetrant BRCA mutations have a 55-60 % lifetime risk for breast cancer and a 16-59 % lifetime risk of developing ovarian cancer. However, penetrance differs interindividually, …, indicating that environmental and behavioral factors may modify this risk. It is well documented that the risk for sporadic breast cancer disease can be modified by changing lifestyle factors that primarily include physical activity, dietary habits, and body weight. It can thus be hypothesized that the modification of these lifestyle factors may also influence the incidence and progression of cancer in BRCA mutation carriers. METHODS/DESIGN This multicenter, interdisciplinary, prospective, two-armed, randomized (1:1) controlled trial aims to enroll a minimum of 600 BRCA1 and BRCA2 mutation carriers to partake in either a lifestyle intervention or usual care. The study primarily aims to demonstrate an improvement of nutritional behavior (adherence to the Mediterranean diet), body mass index, and physical fitness. Furthermore, the effects on quality of life, stress coping capacity, breast cancer incidence, and mortality will be investigated. The intervention group (IG) will receive a structured lifestyle intervention over 12 months, whereas the control group (CG) will only receive information regarding a healthy lifestyle. During the first 3 months, women in the IG will receive structured, individualized, and mainly supervised endurance training with a minimum of 18 MET-h physical activity per week and nutrition education based on the Mediterranean diet. Over the following 9 months, IG monthly group training sessions and regular telephone contacts will motivate study participants. The CG will receive one general training session about healthy nutrition in accordance with the recommendations of the German Society of Nutrition (standard of care in Germany) and the benefits of regular physical activity on health status. At randomization and subsequent time points (3 and 12 months), cardiopulmonary fitness will be assessed by spiroergometry, and nutritional and psychological status will be assessed by validated questionnaires, interviews, and clinical examinations. DISCUSSION As data on the role of lifestyle intervention in women with a hereditary risk for breast and ovarian cancer are currently lacking, this study will be of major importance from a scientific, as well as a practical advice viewpoint. It will investigate the optimal strategy to improve physical fitness, nutritional status, and psychological factors such as quality of life, perceived stress, optimism, as well as incidence and outcome of cancer in this selected group of women at high risk. If the study indicates a positive long-term outcome, a structured lifestyle intervention program could be added to health care prevention strategies for BRCA1 and BRCA2 mutation carriers. TRIAL REGISTRATION ClinicalTrials.gov: NCT02516540 . Registered on 22 July 2015.

Authors: Marion Kiechle, Christoph Engel, Anika Berling, Katrin Hebestreit, Stephan C. Bischoff, Ricarda Dukatz, Michael Siniatchkin, Katharina Pfeifer, Sabine Grill, Maryam Yahiaoui-Doktor, Ellen Kirsch, Uwe Niederberger, Ute Enders, Markus Löffler, Alfons Meindl, Kerstin Rhiem, Rita Schmutzler, Nicole Erickson, Martin Halle

Date Published: 1st Dec 2016

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

Lifestyle intervention in BRCA1/2 mutation carriers: study protocol for a prospective, randomized, controlled clinical feasibility trial (LIBRE-1 study)
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

BACKGROUND Women with highly penetrant BRCA mutations have a 55-60% lifetime risk for breast cancer and a 16-59% lifetime risk for ovarian cancer. However, penetrance differs interindividually, indicating …g that environmental and behavioral factors may modify this risk. These include lifestyle factors such as physical activity status, dietary habits, and body weight. The modification of penetrance by changing lifestyle factors has not thus far been investigated in a randomized trial in BRCA mutation carriers. METHODS Therefore, we intend to enroll 60 BRCA1/2 mutation carriers in a pilot feasibility study (Lifestyle Intervention Study in Women with Hereditary Breast and Ovarian Cancer (LIBRE) pilot). This multi-center, prospective, controlled trial aims to randomize (1:1) participants into a (1) multi-factorial lifestyle intervention group (IG) versus (2) the control group with usual care (CG). The primary endpoint is feasibility and acceptance of a structured interdisciplinary lifestyle intervention program over 12 months (at least 70% of the patients to complete the 1-year intervention). Furthermore, the effects on physical fitness, BMI, quality of life, and stress coping capacity will be investigated. During the first 3 months, women in the IG will receive structured, individualized and mainly supervised endurance training of \geq18 MET*h/week (MET = metabolic equivalent task) and personal nutritional counseling based on the Mediterranean diet. During the subsequent 9 months, the IG will receive monthly group training sessions and regular telephone contacts for motivation, whereas the CG will only receive usual care (one general counseling on healthy nutrition and benefits of regular physical activity on health status). At randomization and subsequent time points (3, 6, 12 months), cardiopulmonary fitness will be assessed by spiroergometry and nutritional and psychological status by validated questionnaires. DISCUSSION This pilot study will investigate the optimal strategy to improve physical fitness, nutritional habits, and psychological factors in women at high risk for developing breast or ovarian cancer. The results of this pilot feasibility study will be the basis for a larger prospective randomized trial including clinical events (LIBRE). TRIAL REGISTRATION ClinicalTrials.gov, NCT02087592.

Authors: Marion Kiechle, Christoph Engel, Anika Berling, Katrin Hebestreit, Stephan Bischoff, Ricarda Dukatz, Wolf-Dieter Gerber, Michael Siniatchkin, Katharina Pfeifer, Sabine Grill, Maryam Yahiaoui-Doktor, Ellen Kirsch, Uwe Niederberger, Nicole Marter, Ute Enders, Markus Löffler, Alfons Meindl, Kerstin Rhiem, Rita Schmutzler, Nicole Erickson, Martin Halle

Date Published: 1st Dec 2016

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

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