@article{HaringLengRobinsonetal.2013,
  author    = {Haring, Bernhard and Leng, Xiaoyan and Robinson, Jennifer and Johnson, Karen C. and Jackson, Rebecca D. and Beyth, Rebecca and Wactawski-Wende, Jean and Wyler von Ballmoos, Moritz and Goveas, Joseph S. and Kuller, Lewis H. and Wassertheil-Smoller, Sylvia},
  title     = {Cardiovascular Disease and Cognitive Decline in Postmenopausal Women: Results From the Women's Health Initiative Memory Study},
  series = {Journal of the American Heart Association},
  volume    = {2},
  journal   = {Journal of the American Heart Association},
  number    = {e000369},
  doi       = {10.1161/JAHA.113.000369},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-129487},
  year      = {2013},
  abstract  = {Background-—Data on cardiovascular diseases (CVD) and cognitive decline are conflicting. Our objective was to investigate if CVD is associated with an increased risk for cognitive decline and to examine whether hypertension, diabetes, or adiposity modify the effect of CVD on cognitive functioning. Methods and Results-—Prospective follow-up of 6455 cognitively intact, postmenopausal women aged 65 to 79 years old enrolled in the Women's Health Initiative Memory Study (WHIMS). CVD was determined by self-report. For cognitive decline, we assessed the incidence of mild cognitive impairment (MCI) or probable dementia (PD) via modified mini-mental state examination (3 MS) score, neurocognitive, and neuropsychiatric examinations. The median follow-up was 8.4 years. Women with CVD tended to be at increased risk for cognitive decline compared with those free of CVD (hazard ratio [HR], 1.29; 95\% CI: 1.00, 1.67). Women with myocardial infarction or other vascular disease were at highest risk (HR, 2.10; 95\% CI: 1.40, 3.15 or HR, 1.97; 95\% CI: 1.34, 2.87). Angina pectoris was moderately associated with cognitive decline (HR 1.45; 95\% CI: 1.05, 2.01) whereas no significant relationships were found for atrial fibrillation or heart failure. Hypertension and diabetes increased the risk for cognitive decline in women without CVD. Diabetes tended to elevate the risk for MCI/PD in women with CVD. No significant trend was seen for adiposity. Conclusions-—CVD is associated with cognitive decline in elderly postmenopausal women. Hypertension and diabetes, but not adiposity, are associated with a higher risk for cognitive decline. More research is warranted on the potential of CVD prevention for preserving cognitive functioning.},
  language  = {en}
}
@article{HaringLengRobinsonetal.2013,
  author    = {Haring, Bernhard and Leng, Xiaoyan and Robinson, Jennifer and Johnson, Karen C. and Jackson, Rebecca D. and Beyth, Rebecca and Wactawski-Wende, Jean and Wyler von Ballmoos, Moritz and Goveas, Joseph S. and Kuller, Lewis H. and Wassertheil-Smoller, Sylvia},
  title     = {Cardiovascular Disease and Cognitive Decline in Postmenopausal Women: Results From the Women's Health Initiative Memory Study},
  doi       = {10.1161/JAHA.113.000369)},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-111376},
  year      = {2013},
  abstract  = {Background Data on cardiovascular diseases (CVD) and cognitive decline are conflicting. Our objective was to investigate if CVD is associated with an increased risk for cognitive decline and to examine whether hypertension, diabetes, or adiposity modify the effect of CVD on cognitive functioning. Methods and Results: Prospective follow-up of 6455 cognitively intact, postmenopausal women aged 65 to 79 years old enrolled in the Women's Health Initiative Memory Study (WHIMS). CVD was determined by self-report. For cognitive decline, we assessed the incidence of mild cognitive impairment (MCI) or probable dementia (PD) via modified mini-mental state examination (3 MS) score, neurocognitive, and neuropsychiatric examinations. The median follow-up was 8.4 years. Women with CVD tended to be at increased risk for cognitive decline compared with those free of CVD (hazard ratio [HR], 1.29; 95\% CI: 1.00, 1.67). Women with myocardial infarction or other vascular disease were at highest risk (HR, 2.10; 95\% CI: 1.40, 3.15 or HR, 1.97; 95\% CI: 1.34, 2.87). Angina pectoris was moderately associated with cognitive decline (HR 1.45; 95\% CI: 1.05, 2.01) whereas no significant relationships were found for atrial fibrillation or heart failure. Hypertension and diabetes increased the risk for cognitive decline in women without CVD. Diabetes tended to elevate the risk for MCI/PD in women with CVD. No significant trend was seen for adiposity. Conclusions: CVD is associated with cognitive decline in elderly postmenopausal women. Hypertension and diabetes, but not adiposity, are associated with a higher risk for cognitive decline. More research is warranted on the potential of CVD prevention for preserving cognitive functioning.},
  language  = {en}
}
@article{WestburyTurroGreeneetal.2015,
  author    = {Westbury, Sarah K and Turro, Ernest and Greene, Daniel and Lentaigne, Claire and Kelly, Anne M and Bariana, Tadbir K and Simeoni, Ilenia and Pillois, Xavier and Attwood, Antony and Austin, Steve and Jansen, Sjoert BG and Bakchoul, Tamam and Crisp-Hihn, Abi and Erber, Wendy N and Favier, R{\´e}mi and Foad, Nicola and Gattens, Michael and Jolley, Jennifer D and Liesner, Ri and Meacham, Stuart and Millar, Carolyn M and Nurden, Alan T and Peerlinck, Kathelijne and Perry, David J and Poudel, Pawan and Schulman, Sol and Schulze, Harald and Stephens, Jonathan C and Furie, Bruce and Robinson, Peter N and van Geet, Chris and Rendon, Augusto and Gomez, Keith and Laffan, Michael A and Lambert, Michele P and Nurden, Paquita and Ouwehand, Willem H and Richardson, Sylvia and Mumford, Andrew D and Freson, Kathleen},
  title     = {Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders},
  series = {Genome Medicine},
  volume    = {7},
  journal   = {Genome Medicine},
  number    = {36},
  doi       = {10.1186/s13073-015-0151-5},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-143329},
  year      = {2015},
  abstract  = {Background: Heritable bleeding and platelet disorders (BPD) are heterogeneous and frequently have an unknown genetic basis. The BRIDGE-BPD study aims to discover new causal genes for BPD by high throughput sequencing using cluster analyses based on improved and standardised deep, multi-system phenotyping of cases. Methods: We report a new approach in which the clinical and laboratory characteristics of BPD cases are annotated with adapted Human Phenotype Ontology (HPO) terms. Cluster analyses are then used to characterise groups of cases with similar HPO terms and variants in the same genes. Results: We show that 60\% of index cases with heritable BPD enrolled at 10 European or US centres were annotated with HPO terms indicating abnormalities in organ systems other than blood or blood-forming tissues, particularly the nervous system. Cases within pedigrees clustered closely together on the bases of their HPO-coded phenotypes, as did cases sharing several clinically suspected syndromic disorders. Cases subsequently found to harbour variants in ACTN1 also clustered closely, even though diagnosis of this recently described disorder was not possible using only the clinical and laboratory data available to the enrolling clinician. Conclusions: These findings validate our novel HPO-based phenotype clustering methodology for known BPD, thus providing a new discovery tool for BPD of unknown genetic basis. This approach will also be relevant for other rare diseases with significant genetic heterogeneity.},
  language  = {en}
}