22,034 results on '"Kratz A"'
Search Results
102. Hungarian Orthodoxy in Transylvania, Romania*
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Keren-Kratz, Menachem, primary
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- 2023
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103. Quantitative Polymerase Chain Reaction and Precision Medicine
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Ramirez, Joel L., primary and Kratz, Johannes R., additional
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- 2023
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104. Eine Kritik der Solidarität.
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Kratz, Marian, primary
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- 2023
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105. Multi-Normex Distributions for the Sum of Random Vectors. Rates of Convergence
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Kratz, Marie and Prokopenko, Evgeny
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Mathematics - Statistics Theory ,Mathematics - Probability - Abstract
We build a sharp approximation of the whole distribution of the sum of iid heavy-tailed random vectors, combining mean and extreme behaviors. It extends the so-called 'normex' approach from a univariate to a multivariate framework. We propose two possible multi-normex distributions, named $d$-Normex and MRV-Normex. Both rely on the Gaussian distribution for describing the mean behavior, via the CLT, while the difference between the two versions comes from using the exact distribution or the EV theorem for the maximum. The main theorems provide the rate of convergence for each version of the multi-normex distributions towards the distribution of the sum, assuming second order regular variation property for the norm of the parent random vector when considering the MRV-normex case. Numerical illustrations and comparisons are proposed with various dependence structures on the parent random vector, using QQ-plots based on geometrical quantiles.
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- 2021
106. Correlations of r-Process Elements in Very Metal-Poor Stars as Clues to their Nucleosynthesis Sites
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Farouqi, Khalil, Thielemann, Friedrich-Karl, Rosswog, Stephan, and Kratz, Karl-Ludwig
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Astrophysics - Solar and Stellar Astrophysics ,Astrophysics - Astrophysics of Galaxies - Abstract
Various nucleosynthesis studies have pointed out that the r-process elements in very metal-poor (VMP) halo stars might have different origins. By means of familiar concepts from statistics (correlations, cluster analysis, rank tests of elemental abundances), we look for causally correlated elemental abundance patterns and attempt to link them to astrophysical events. Some of these events produce the r-process elements jointly with iron, while others do not have any significant iron contribution. In the early stage of our Galaxy, at least three r-process nucleosynthesis sites have been active. The first two produce and eject iron and the majority of the lighter r-process elements. We assign them to two different types of core-collapse events, not identical to regular core-collapse supernovae (CCSNe), which produce only light trans-Fe elements. The third category is characterized by a strong r-process and responsible for the major fraction of the heavy main r-process elements without a significant co-production of Fe. It does not appear to be connected to CCSNe, in fact the Fe found in the related r-process enriched stars must come from previously occurring CCSNe. The existence of actinide boost stars indicates a further division among strong r-process sites. We assign these two strong r-process sites to neutron star mergers without fast black hole formation and to events where the ejecta are dominated by black hole accretion disk outflows. Indications from the lowest-metallicity stars hint at a connection to massive single stars (collapsars) forming black holes in the early Galaxy., Comment: 40 pages, 25 figures, 10 tables
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- 2021
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107. From Integration to Segregation--The Turnaround in Israel's Haredi Society in the Late 1970s
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Keren-Kratz, Menachem
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Six-Day War, 1967 -- Social aspects ,Political parties -- Eastern Europe -- Lithuania -- Israel ,Segregation -- Social aspects ,Rabbis -- Social aspects ,Judaism -- Social aspects ,Social norms -- Social aspects ,Ethnic, cultural, racial issues/studies ,Regional focus/area studies - Abstract
Until the late 1970s, Israeli Haredim were known for their strict observance of halakha, their deference to their rabbis, the strictly Orthodox education of their children, and their reliable vote for Haredi political parties. Apart from these mores, most Haredim were comfortable leading a normal Israeli life: dressing as they pleased; living wherever their social, cultural, and economic needs were met; choosing an occupation or place of work that suited their capabilities and professional experience; and taking pride in the state which had accepted them as equal citizens after the Holocaust, supported their particular religious needs, and enabled them to follow their Haredi lifestyle to the full. In the wake of a process which began in the mid-1950s and culminated in the late 1970s, Israel's Haredi society adopted a way of life and attitudes which were different from those they had previously followed. The transformation was driven by three main factors: a growing frustration and the realization that the society, public space, and governing bodies of the country were becoming increasingly secularized. A second factor was the rise to power of Rabbi Menachem Mann Shach who became Haredi society's foremost leader during these years. And the third was the 1977 political turnaround when for the first time, right wing parties established the government. This provided Rabbi Shach with the political opportunity to lead the Haredi sector away from its former lifestyle which sought to integrate into Israeli society, and towards a disdain for Israel, Zionist ideology, and non-Haredi society. Rabbi Shach achieved this by imposing strict and unprecedented religious and social norms, glorified as the return to a 'golden age' that never really existed. Keywords: Haredi/Ultra-Orthodox Society, Contemporary Haredism, Rabbi Menachem Shach, Contemporary Israeli Society, Contemporary Judaism., INTRODUCTION THE EARLIEST STUDIES ON ISRAEL S HAREDI SOCIETY BEGAN TO appear in the second half of the 1980s, but the first book on the subject written by Menachem Friedman, [...]
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- 2023
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108. Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study
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Struewe, Farina J., Schott, Sarah, de Zwaan, Martina, and Kratz, Christian P.
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- 2023
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109. Not All Porcine Intestinal Segments Are Equal in Terms of Breaking Force, but None Were Associated to Allometric Parameters
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Tobias Kratz, Jan Dauvergne, Anne-Sophie Kronberg, David Katzer, Rainer Ganschow, Marit Bernhardt, Sarah Westeppe, Benjamin Bierbach, Joanna Strohm, and Christina Oetzmann von Sochaczewski
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swine ,experimental gastroenterology ,breaking force ,allometry ,biomechanics ,Diseases of the digestive system. Gastroenterology ,RC799-869 - Abstract
Biomechanics are gaining ground in gastroenterology in the creation of educational models and to describe the necessary forces to perforate hallow organs during endoscopy. We thus investigated the breaking forces of porcine intestinal segments and whether they could be predicted based on body weight or crown–rump length. Based on a priori power-analyses, 10 pigs were included. The breaking forces were determined with a motorized test stand. We found that the breaking forces of intestinal segments were different (H(6) = 33.7, p < 0.0001): Ileal breaking force (x¯ = 24.14 N) was higher than jejunal (x¯ = 14.24 N, p = 0.0082) and colonic (x¯ = 11.33 N, p < 0.0001) breaking force. The latter was also smaller than cecal breaking force (x¯ = 24.6 N, p = 0.0044). Likewise, rectal (x¯ = 23.57 N) breaking force was higher than jejunal (p = 0.0455) and colonic (p = 0.0006) breaking force. Breaking forces were not correlated to body weight or crown–rump length (R < 0.49, p > 0.148). Intestinal segments differ in their breaking forces. The colon had the least resistance to traction forces. It remains to be determined if similar relationships exist in humans in order to validate porcine models for endoscopy and surgery.
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- 2023
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110. High-sensitive nascent transcript sequencing reveals BRD4-specific control of widespread enhancer and target gene transcription
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Annkatrin Bressin, Olga Jasnovidova, Mirjam Arnold, Elisabeth Altendorfer, Filip Trajkovski, Thomas A. Kratz, Joanna E. Handzlik, Denes Hnisz, and Andreas Mayer
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Science - Abstract
Abstract Gene transcription by RNA polymerase II (Pol II) is under control of promoters and distal regulatory elements known as enhancers. Enhancers are themselves transcribed by Pol II correlating with their activity. How enhancer transcription is regulated and coordinated with transcription at target genes has remained unclear. Here, we developed a high-sensitive native elongating transcript sequencing approach, called HiS-NET-seq, to provide an extended high-resolution view on transcription, especially at lowly transcribed regions such as enhancers. HiS-NET-seq uncovers new transcribed enhancers in human cells. A multi-omics analysis shows that genome-wide enhancer transcription depends on the BET family protein BRD4. Specifically, BRD4 co-localizes to enhancer and promoter-proximal gene regions, and is required for elongation activation at enhancers and their genes. BRD4 keeps a set of enhancers and genes in proximity through long-range contacts. From these studies BRD4 emerges as a general regulator of enhancer transcription that may link transcription at enhancers and genes.
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- 2023
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111. A porcine model of postoperative hemi-diaphragmatic paresis to evaluate a unilateral diaphragmatic pacemaker
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Tobias Kratz, Roman Ruff, Marit Bernhardt, David Katzer, Ulrike Herberg, Boulos Asfour, Johannes Breuer, Christina Oetzmann von Sochaczewski, and Benjamin Bierbach
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Medicine ,Science - Abstract
Abstract Unilateral phrenic nerve damage is a dreaded complication in congenital heart surgery. It has deleterious effects in neonates and children with uni-ventricular circulation. Diaphragmatic palsy, caused by phrenic nerve damage, impairs respiratory function, especially in new-borns, because their respiration depends on diaphragmatic contractions. Furthermore, Fontan patients with passive pulmonary perfusion are seriously affected by phrenic nerve injury, because diaphragmatic contraction augments pulmonary blood flow. Diaphragmatic plication is currently employed to ameliorate the negative effects of diaphragmatic palsy on pulmonary perfusion and respiratory mechanics. This procedure attenuates pulmonary compression by the abdominal contents. However, there is no contraction of the plicated diaphragm and consequently no contribution to the pulmonary blood flow. Hence, we developed a porcine model of unilateral diaphragmatic palsy in order to evaluate a diaphragmatic pacemaker. Our illustrated step-by-step description of the model generation enables others to replicate and use our model for future studies. Thereby, it might contribute to investigation and advancement of potential improvements for these patients.
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- 2023
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112. Conflicting objectives in kidney exchange
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Kratz, Jörgen
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- 2024
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113. Examination of Risk Factors Associated With Falls and Injurious Falls in People With Multiple Sclerosis: An Updated Nationwide Study
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Abou, Libak, McCloskey, Chloe, Wernimont, Cory, Fritz, Nora E., and Kratz, Anna L.
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- 2024
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114. Synechococcus dominance induced after hydrogen peroxide treatment of Microcystis bloom in the Caloosahatchee River, Florida
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Hancock, Taylor L., Dahedl, Elizabeth K., Kratz, Michael A., and Urakawa, Hidetoshi
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- 2024
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115. Bacterial community shifts induced by high concentration hydrogen peroxide treatment of Microcystis bloom in a mesocosm study
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Hancock, Taylor L., Dahedl, Elizabeth K., Kratz, Michael A., and Urakawa, Hidetoshi
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- 2024
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116. Effects of accelerated curing in thermoplastic particle interleaf epoxy laminates
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Kratz, James, Paris, Christophe, Gaska, Karolina, Maes, Vincent, Partridge, Ivana, and Olivier, Philippe
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- 2024
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117. Widespread Pain With Nociplastic Features is an Independent Predictor of Low Physical Activity in People with Multiple Sclerosis
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Abou, Libak, Whibley, Daniel, Clauw, Daniel J., and Kratz, Anna L.
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- 2024
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118. Discovering dominant tumor immune archetypes in a pan-cancer census
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Combes, Alexis J, Samad, Bushra, Tsui, Jessica, Chew, Nayvin W, Yan, Peter, Reeder, Gabriella C, Kushnoor, Divyashree, Shen, Alan, Davidson, Brittany, Barczak, Andrea J, Adkisson, Michael, Edwards, Austin, Naser, Mohammad, Barry, Kevin C, Courau, Tristan, Hammoudi, Taymour, Argüello, Rafael J, Rao, Arjun Arkal, Olshen, Adam B, Consortium, The Immunoprofiler, Spitzer, Matthew, Fong, Lawrence, Nelson, Amanda, Kumar, Raj, Lee, Justin, Burra, Arun, Hsu, Joy, Hackett, Caroline, Tolentino, Karen, Sjarif, Jasmine, Johnson, Peter, Shao, Evans, Abrau, Darrell, Lupin, Leonard, Shaw, Cole, Collins, Zachary, Lea, Tasha, Corvera, Carlos, Nakakura, Eric, Carnevale, Julia, Alvarado, Michael, Loo, Kimberley, Chen, Lawrence, Chow, Melissa, Grandis, Jennifer, Ryan, Will, El-Sayed, Ivan, Jablons, David, Woodard, Gavitt, Meng, Maxwell W, Porten, Sima P, Okada, Hideho, Tempero, Margaret, Ko, Andrew, Kirkwood, Kim, Vandenberg, Scott, Guevarra, Denise, Oropeza, Erica, Cyr, Chris, Glenn, Pat, Bolen, Jennifer, Morton, Amanda, Eckalbar, Walter, Cai, Cathy, Zhan, Jenny, Davis, Katelyn C, Kelley, Robin K, Chapman, Jocelyn S, Atreya, Chloe E, Patel, Amar, Daud, Adil I, Ha, Patrick, Diaz, Aaron A, Kratz, Johannes R, Collisson, Eric A, Fragiadakis, Gabriela K, Erle, David J, Boissonnas, Alexandre, Asthana, Saurabh, Chan, Vincent, and Krummel, Matthew F
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Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Immunology ,Genetics ,Cancer ,Cancer Genomics ,Human Genome ,Biomarkers ,Tumor ,Censuses ,Cluster Analysis ,Cohort Studies ,Computational Biology ,Flow Cytometry ,Gene Expression Regulation ,Neoplastic ,Humans ,Neoplasms ,RNA-Seq ,San Francisco ,Transcriptome ,Tumor Microenvironment ,Universities ,Immunoprofiler Consortium ,Pan Cancer analysis ,immune profiling ,solid tumor microenvironement ,system immunology ,tumor immunology ,unsupervised clustering ,Biological Sciences ,Medical and Health Sciences ,Developmental Biology ,Biological sciences ,Biomedical and clinical sciences - Abstract
Cancers display significant heterogeneity with respect to tissue of origin, driver mutations, and other features of the surrounding tissue. It is likely that individual tumors engage common patterns of the immune system-here "archetypes"-creating prototypical non-destructive tumor immune microenvironments (TMEs) and modulating tumor-targeting. To discover the dominant immune system archetypes, the University of California, San Francisco (UCSF) Immunoprofiler Initiative (IPI) processed 364 individual tumors across 12 cancer types using standardized protocols. Computational clustering of flow cytometry and transcriptomic data obtained from cell sub-compartments uncovered dominant patterns of immune composition across cancers. These archetypes were profound insofar as they also differentiated tumors based upon unique immune and tumor gene-expression patterns. They also partitioned well-established classifications of tumor biology. The IPI resource provides a template for understanding cancer immunity as a collection of dominant patterns of immune organization and provides a rational path forward to learn how to modulate these to improve therapy.
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- 2022
119. Perioperative Lung Resection Outcomes After Implementation of a Multidisciplinary, Evidence-based Thoracic ERAS Program.
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Haro, Greg J, Sheu, Bonnie, Marcus, Sivan G, Sarin, Ankit, Campbell, Lundy, Jablons, David M, and Kratz, Johannes R
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Humans ,Lung Neoplasms ,Analgesics ,Opioid ,Length of Stay ,Patient Readmission ,Pulmonary Surgical Procedures ,Prospective Studies ,Evidence-Based Medicine ,Aged ,Cost Control ,Female ,Male ,Practice Guidelines as Topic ,Propensity Score ,Minimally Invasive Surgical Procedures ,Enhanced Recovery After Surgery ,Cancer ,Clinical Research ,Lung ,Patient Safety ,Evaluation of treatments and therapeutic interventions ,6.4 Surgery ,Good Health and Well Being ,enhanced recovery after surgery ,lung resection ,perioperative outcomes ,thoracic surgery ,Medical and Health Sciences ,Surgery - Abstract
ObjectiveThis prospective study evaluated perioperative lung resection outcomes after implementation of a multidisciplinary, evidence-based Thoracic Enhanced Recovery After Surgery (ERAS) Program in an academic, quaternary-care center.BackgroundERAS programs have the potential to improve outcomes, but have not been widely utilized in thoracic surgery.MethodsIn all, 295 patients underwent elective lung resection for pulmonary malignancy from 2015 to 2019 PRE (n = 169) and POST (n = 126) implementation of an ERAS program containing all major ERAS Society guidelines. Propensity score-matched analysis, based upon patient, tumor, and surgical characteristics, was utilized to evaluate outcomes.ResultsAfter ERAS implementation, there was increased minimally invasive surgery (PRE 39.6%→POST 62.7%), reduced intensive care unit utilization (PRE 70.4%→POST 21.4%), improved chest tube (PRE 24.3%→POST 54.8%) and urinary catheter (PRE 20.1%→POST 65.1%) removal by postoperative day 1, and increased ambulation ≥3× on postoperative day 1 (PRE 46.8%→POST 54.8%). Propensity score-matched analysis that accounted for minimally invasive surgery demonstrated that program implementation reduced length of stay by 1.2 days [95% confidence interval (CI) 0.3-2.0; PRE 4.4→POST 3.2), morbidity by 12.0% (95% CI 1.6%-22.5%; PRE 32.0%→POST 20.0%), opioid use by 19 oral morphine equivalents daily (95% CI 1-36; PRE 101→POST 82), and the direct costs of surgery and hospitalization by $3500 (95% CI $1100-5900; PRE $23,000→POST $19,500). Despite expedited discharge, readmission remained unchanged (PRE 6.3%→POST 6.6%; P = 0.94).ConclusionsThe Thoracic ERAS Program for lung resection reduced length of stay, morbidity, opioid use, and direct costs without change in readmission. This is the first external validation of the ERAS Society thoracic guidelines; adoption by other centers may show similar benefit.
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- 2021
120. Improved outcomes and staging in non-small-cell lung cancer guided by a molecular assay.
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Gupta, Alexander R, Woodard, Gavitt A, Jablons, David M, Mann, Michael J, and Kratz, Johannes R
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Humans ,Carcinoma ,Non-Small-Cell Lung ,Lung Neoplasms ,Neoplasm Recurrence ,Local ,Neoplasm Staging ,Disease-Free Survival ,Chemotherapy ,Adjuvant ,Pneumonectomy ,Molecular Diagnostic Techniques ,Risk Assessment ,Prospective Studies ,Gene Expression Profiling ,Gene Expression Regulation ,Neoplastic ,Real-Time Polymerase Chain Reaction ,Carcinogenesis ,Datasets as Topic ,Biomarkers ,Tumor ,Clinical Decision-Making ,adjuvant therapy ,molecular assay ,molecular prognostic classifier ,non-small-cell lung cancer ,predictive ,risk stratification ,tumor genetic profile ,Cancer ,Biotechnology ,Rare Diseases ,Patient Safety ,Lung ,Lung Cancer ,Evaluation of treatments and therapeutic interventions ,4.1 Discovery and preclinical testing of markers and technologies ,6.4 Surgery ,4.2 Evaluation of markers and technologies ,Detection ,screening and diagnosis ,Good Health and Well Being ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
There remains a critical need for improved staging of non-small-cell lung cancer, as recurrence and mortality due to undetectable metastases at the time of surgery remain high even after complete resection of tumors currently categorized as 'early stage.' A 14-gene quantitative PCR-based expression profile has been extensively validated to better identify patients at high-risk of 5-year mortality after surgical resection than conventional staging - mortality that almost always results from previously undetectable metastases. Furthermore, prospective studies now suggest a predictive benefit in disease-free survival when the assay is used to guide adjuvant chemotherapy decisions in early-stage non-small-cell lung cancer patients.
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- 2021
121. Genetic and immunologic features of recurrent stage I lung adenocarcinoma.
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Kratz, Johannes R, Li, Jack Z, Tsui, Jessica, Lee, Jen C, Ding, Vivianne W, Rao, Arjun A, Mann, Michael J, Chan, Vincent, Combes, Alexis J, Krummel, Matthew F, and Jablons, David M
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Humans ,Neoplasm Recurrence ,Local ,Disease Susceptibility ,Neoplasm Staging ,Prognosis ,Proportional Hazards Models ,Gene Expression Profiling ,Computational Biology ,Epigenesis ,Genetic ,Gene Expression Regulation ,Neoplastic ,Mutation ,Male ,Genetic Variation ,Tumor Microenvironment ,Biomarkers ,Tumor ,Adenocarcinoma of Lung ,Clinical Research ,Human Genome ,Lung ,Rare Diseases ,Lung Cancer ,Cancer ,Genetics - Abstract
Although surgery for early-stage lung cancer offers the best chance of cure, recurrence still occurs between 30 and 50% of the time. Why patients frequently recur after complete resection of early-stage lung cancer remains unclear. Using a large cohort of stage I lung adenocarcinoma patients, distinct genetic, genomic, epigenetic, and immunologic profiles of recurrent tumors were analyzed using a novel recurrence classifier. To characterize the tumor immune microenvironment of recurrent stage I tumors, unique tumor-infiltrating immune population markers were identified using single cell RNA-seq on a separate cohort of patients undergoing stage I lung adenocarcinoma resection and applied to a large study cohort using digital cytometry. Recurrent stage I lung adenocarcinomas demonstrated higher mutation and lower methylation burden than non-recurrent tumors, as well as widespread activation of known cancer and cell cycle pathways. Simultaneously, recurrent tumors displayed downregulation of immune response pathways including antigen presentation and Th1/Th2 activation. Recurrent tumors were depleted in adaptive immune populations, and depletion of adaptive immune populations and low cytolytic activity were prognostic of stage I recurrence. Genomic instability and impaired adaptive immune responses are key features of stage I lung adenocarcinoma immunosurveillance escape and recurrence after surgery.
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- 2021
122. Peripheral Oxygenation and Pulmonary Hemodynamics in Individuals With Fontan Circulation During 24-Hour High-Altitude Exposure Simulation
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Müller, Nicole, Härtel, Julian Alexander, Schmitz, Jan, Baur, Ute, von der Wiesche, Melanie, Rieger, Iris, Gerlach, Darius, von Stritzky, Jon, Bach, Anja, Hart, Christopher, Bros, Janina, Seeger, Benedikt, Zollmann, Emily, Grau, Marijke, Dragutinovic, Boris, de Boni, Laura-Maria, Hönemann, Jan-Niklas, Bloch, Wilhelm, Aeschbach, Daniel, Elmenhorst, Eva-Maria, Herberg, Ulrike, Hess, Alena, Schumann, Moritz, Kratz, Tobias, Jordan, Jens, Breuer, Johannes, and Tank, Jens
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- 2024
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123. Unveiling the Two-Proton Halo Character of 17Ne: Exclusive Measurement of Quasi-free Proton-Knockout Reactions
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Lehr, C., Wamers, F., Aksouh, F., Aksyutina, Yu., Alvarez-Pol, H., Atar, L., Aumann, T., Beceiro-Novo, S., Bertulani, C. A., Boretzky, K., Borge, M. J. G., Caesar, C., Chartier, M., Chatillon, A., Chulkov, L. V., Cortina-Gil, D., Fernandez, P. Diaz, Emling, H., Ershova, O., Fraile, L. M., Fynbo, H. O. U., Galaviz, D., Geissel, H., Heil, M., Heine, M., Hoffmann, D. H. H., Holl, M., Johansson, H. T., Jonson, B., Karagiannis, C., Kiselev, O. A., Kratz, J. V., Kulessa, R., Kurz, N., Langer, C., Lantz, M., Bleis, T. Le, Lemmon, R., Litvinov, Yu. A., Loeher, B., Mahata, K., Marganiec-Galazka, J., Muentz, C., Nilsson, T., Nociforo, C., Ott, W., Panin, V., Paschalis, S., Perea, A., Plag, R., Reifarth, R., Richter, A., Riisager, K., Rodriguez-Tajes, C., Rossi, D., Savran, D., Scheit, H., Schrieder, G., Schrock, P., Simon, H., Stroth, J., Suemmerer, K., Tengblad, O., Weick, H., and Wimmer, C.
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Nuclear Experiment - Abstract
The proton drip-line nucleus 17Ne is investigated experimentally in order to determine its two-proton halo character. A fully exclusive measurement of the 17Ne(p,2p)16F->15O+p quasi-free one-proton knockout reaction has been performed at GSI at around 500 MeV/nucleon beam energy. All particles resulting from the scattering process have been detected. The relevant reconstructed quantities are the angles of the two protons scattered in quasi-elastic kinematics, the decay of 16F into 15O (including gamma decays from excited states) and a proton, as well as the 15O+p relative-energy spectrum and the 16F momentum distributions. The latter two quantities allow an independent and consistent determination of the ratio of l=0 and l=2 motion of the valence protons in 17Ne. With a resulting relatively small l=0 component of only around 35(3)%, it is concluded that 17Ne exhibits a rather modest halo character only. The quantitative agreement of the two values deduced from the energy spectrum and the momentum distributions supports the theoretical treatment of the calculation of momentum distributions after quasi-free knockout reactions at high energies by taking into account distortions based on the Glauber theory. Moreover, the experimental data allow the separation of valence-proton knockout and knockout from the 15O core. The latter process contributes with 11.8(3.1) mb around 40% to the total proton-knockout cross section of 30.3(2.3) mb, which explains previously reported contradicting conclusions derived from inclusive cross sections., Comment: 7 pages, 5 figures
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- 2021
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124. Elastocapillary network model of inhalation
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Louf, Jean-François, Kratz, Felix, and Datta, Sujit S.
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Physics - Biological Physics ,Condensed Matter - Soft Condensed Matter ,Physics - Fluid Dynamics ,Physics - Medical Physics - Abstract
The seemingly simple process of inhalation relies on a complex interplay between muscular contraction in the thorax, elasto-capillary interactions in individual lung branches, propagation of air between different connected branches, and overall air flow into the lungs. These processes occur over considerably different length and time scales; consequently, linking them to the biomechanical properties of the lungs, and quantifying how they together control the spatiotemporal features of inhalation, remains a challenge. We address this challenge by developing a computational model of the lungs as a hierarchical, branched network of connected liquid-lined flexible cylinders coupled to a viscoelastic thoracic cavity. Each branch opens at a rate and a pressure that is determined by input biomechanical parameters, enabling us to test the influence of changes in the mechanical properties of lung tissues and secretions on inhalation dynamics. By summing the dynamics of all the branches, we quantify the evolution of overall lung pressure and volume during inhalation, reproducing the shape of measured breathing curves. Using this model, we demonstrate how changes in lung muscle contraction, mucus viscosity and surface tension, and airway wall stiffness---characteristic of many respiratory diseases, including those arising from COVID-19, cystic fibrosis, chronic obstructive pulmonary disease, asthma, and emphysema---drastically alter inhaled lung capacity and breathing duration. Our work therefore helps to identify the key factors that control breathing dynamics, and provides a way to quantify how disease-induced changes in these factors lead to respiratory distress., Comment: In press
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- 2020
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125. Supporting Piggybacked Co-Located Leisure Activities via Augmented Reality.
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Samantha Reig, Erica Principe Cruz, Melissa M. Powers, Jennifer He, Timothy Chong, Yu Jiang Tham, Sven Kratz, Ava Robinson, Brian A. Smith 0001, Rajan Vaish, and Andrés Monroy-Hernández
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- 2023
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126. Memento Player: Shared Multi-Perspective Playback of Volumetrically-Captured Moments in Augmented Reality.
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Yimeng Liu, Jacob Ritchie, Sven Kratz, Misha Sra, Brian A. Smith 0001, Andrés Monroy-Hernández, and Rajan Vaish
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- 2023
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127. University Education Adapts to Industry 4.0 Topic
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Vrignat, Pascal, Avila, Manuel, Marangé, Pascale, Kratz, Frédéric, Kacprzyk, Janusz, Series Editor, Gomide, Fernando, Advisory Editor, Kaynak, Okyay, Advisory Editor, Liu, Derong, Advisory Editor, Pedrycz, Witold, Advisory Editor, Polycarpou, Marios M., Advisory Editor, Rudas, Imre J., Advisory Editor, Wang, Jun, Advisory Editor, Auer, Michael E., editor, Langmann, Reinhard, editor, and Tsiatsos, Thrasyvoulos, editor
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- 2023
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128. Hydrogen technologies: outlook and future possibilities
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Spohn, Uwe, Ilse, Klemens, Kleeberg, Jörg, Michel, Peter, Schattauer, Sylvia, Spieß, Alexander, Beyer, Ulrike, Kratz, Detlef, Spindler, Stefan, Gossens, Stefan, Schnettler, Armin, and Neugebauer, Reimund, editor
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- 2023
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129. Exploring the Links between Diet and Inflammation: Dairy Foods as Case Studies
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Hess, Julie M, Stephensen, Charles B, Kratz, Mario, and Bolling, Bradley W
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Biomedical and Clinical Sciences ,Nutrition and Dietetics ,Prevention ,Clinical Research ,Nutrition ,Clinical Trials and Supportive Activities ,Obesity ,Metabolic and endocrine ,Cardiovascular ,Oral and gastrointestinal ,Animals ,Cheese ,Dairy Products ,Diet ,Humans ,Inflammation ,Milk ,Risk Factors ,Yogurt ,dairy ,chronic disease ,diet ,inflammation ,immune system ,Nutrition and dietetics - Abstract
Systemic chronic inflammation may be a contributing factor to many noncommunicable diseases, including diabetes, cardiovascular disease, and obesity. With the rapid rise of these conditions, identifying the causes of and treatment for chronic inflammation is an important research priority, especially with regard to modifiable lifestyle factors such as diet. An emerging body of evidence indicates that consuming certain foods, including dairy foods like milk, cheese, and yogurt, may be linked to a decreased risk for inflammation. To discuss both broader research on diet and inflammation as well as research on links between individual foods and inflammation, the National Dairy Council sponsored a satellite session entitled "Exploring the Links between Diet and Inflammation: Dairy Foods as Case Studies" at the American Society for Nutrition's 2020 LIVE ONLINE Conference. This article, a review based on the topics discussed during that session, explores the links between diet and inflammation, focusing most closely on the relations between intake of dairy fat and dairy foods like milk, cheese, and yogurt, and biomarkers of inflammation from clinical trials. While there is currently insufficient evidence to prove an "anti-inflammatory" effect of dairy foods, the substantial body of clinical research discussed in this review indicates that dairy foods do not increase concentrations of biomarkers of chronic systemic inflammation.
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- 2021
130. Interpretation of cancer mutations using a multiscale map of protein systems.
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Zheng, Fan, Kelly, Marcus R, Ramms, Dana J, Heintschel, Marissa L, Tao, Kai, Tutuncuoglu, Beril, Lee, John J, Ono, Keiichiro, Foussard, Helene, Chen, Michael, Herrington, Kari A, Silva, Erica, Liu, Sophie N, Chen, Jing, Churas, Christopher, Wilson, Nicholas, Kratz, Anton, Pillich, Rudolf T, Patel, Devin N, Park, Jisoo, Kuenzi, Brent, Yu, Michael K, Licon, Katherine, Pratt, Dexter, Kreisberg, Jason F, Kim, Minkyu, Swaney, Danielle L, Nan, Xiaolin, Fraley, Stephanie I, Gutkind, J Silvio, Krogan, Nevan J, and Ideker, Trey
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Humans ,Neoplasms ,Neoplasm Proteins ,Protein Interaction Mapping ,Mutation ,Genes ,Neoplasm ,Protein Interaction Maps ,Genetics ,Rare Diseases ,Cancer ,2.1 Biological and endogenous factors ,Aetiology ,General Science & Technology - Abstract
A major goal of cancer research is to understand how mutations distributed across diverse genes affect common cellular systems, including multiprotein complexes and assemblies. Two challenges—how to comprehensively map such systems and how to identify which are under mutational selection—have hindered this understanding. Accordingly, we created a comprehensive map of cancer protein systems integrating both new and published multi-omic interaction data at multiple scales of analysis. We then developed a unified statistical model that pinpoints 395 specific systems under mutational selection across 13 cancer types. This map, called NeST (Nested Systems in Tumors), incorporates canonical processes and notable discoveries, including a PIK3CA-actomyosin complex that inhibits phosphatidylinositol 3-kinase signaling and recurrent mutations in collagen complexes that promote tumor proliferation. These systems can be used as clinical biomarkers and implicate a total of 548 genes in cancer evolution and progression. This work shows how disparate tumor mutations converge on protein assemblies at different scales.
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- 2021
131. Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance
- Author
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Durno, Carol, Ercan, Ayse Bahar, Bianchi, Vanessa, Edwards, Melissa, Aronson, Melyssa, Galati, Melissa, Atenafu, Eshetu G, Abebe-Campino, Gadi, Al-Battashi, Abeer, Alharbi, Musa, Azad, Vahid Fallah, Baris, Hagit N, Basel, Donald, Bedgood, Raymond, Bendel, Anne, Ben-Shachar, Shay, Blumenthal, Deborah T, Blundell, Maude, Bornhorst, Miriam, Bronsema, Annika, Cairney, Elizabeth, Rhode, Sara, Caspi, Shani, Chamdin, Aghiad, Chiaravalli, Stefano, Constantini, Shlomi, Crooks, Bruce, Das, Anirban, Dvir, Rina, Farah, Roula, Foulkes, William D, Frenkel, Zehavit, Gallinger, Bailey, Gardner, Sharon, Gass, David, Ghalibafian, Mithra, Gilpin, Catherine, Goldberg, Yael, Goudie, Catherine, Hamid, Syed Ahmer, Hampel, Heather, Hansford, Jordan R, Harlos, Craig, Hijiya, Nobuko, Hsu, Saunders, Kamihara, Junne, Kebudi, Rejin, Knipstein, Jeffrey, Koschmann, Carl, Kratz, Christian, Larouche, Valerie, Lassaletta, Alvaro, Lindhorst, Scott, Ling, Simon C, Link, Michael P, De Mola, Rebecca Loret, Luiten, Rebecca, Lurye, Michal, Maciaszek, Jamie L, MagimairajanIssai, Vanan, Maher, Ossama M, Massimino, Maura, McGee, Rose B, Mushtaq, Naureen, Mason, Gary, Newmark, Monica, Nicholas, Garth, Nichols, Kim E, Nicolaides, Theodore, Opocher, Enrico, Osborn, Michael, Oshrine, Benjamin, Pearlman, Rachel, Pettee, Daniel, Rapp, Jan, Rashid, Mohsin, Reddy, Alyssa, Reichman, Lara, Remke, Marc, Robbins, Gabriel, Roy, Sumita, Sabel, Magnus, Samuel, David, Scheers, Isabelle, Schneider, Kami Wolfe, Sen, Santanu, Stearns, Duncan, Sumerauer, David, Swallow, Carol, Taylor, Leslie, Thomas, Gregory, Toledano, Helen, Tomboc, Patrick, Van Damme, An, Winer, Ira, Yalon, Michal, Yen, Lee Yi, Zapotocky, Michal, Zelcer, Shayna, and Ziegler, David S
- Subjects
Cancer ,Brain Disorders ,Clinical Research ,Digestive Diseases ,Prevention ,Brain Cancer ,Rare Diseases ,Adolescent ,Adult ,Brain Neoplasms ,Child ,Child ,Preschool ,Colorectal Neoplasms ,DNA Mismatch Repair ,DNA Repair Enzymes ,Early Detection of Cancer ,Female ,Follow-Up Studies ,Humans ,Male ,Neoplastic Syndromes ,Hereditary ,Population Surveillance ,Prognosis ,Prospective Studies ,Survival Rate ,United States ,Young Adult ,Clinical Sciences ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
PurposeConstitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection in these individuals.Patients and methodsData were collected from patients with confirmed CMMRD who were registered in the International Replication Repair Deficiency Consortium. Tumor spectrum, efficacy of the surveillance protocol, and malignant transformation of low-grade lesions were examined for the entire cohort. Survival outcomes were analyzed for patients followed prospectively from the time of surveillance implementation.ResultsA total of 193 malignant tumors in 110 patients were identified. Median age of first cancer diagnosis was 9.2 years (range: 1.7-39.5 years). For patients undergoing surveillance, all GI and other solid tumors, and 75% of brain cancers were detected asymptomatically. By contrast, only 16% of hematologic malignancies were detected asymptomatically (P < .001). Eighty-nine patients were followed prospectively and used for survival analysis. Five-year overall survival (OS) was 90% (95% CI, 78.6 to 100) and 50% (95% CI, 39.2 to 63.7) when cancer was detected asymptomatically and symptomatically, respectively (P = .001). Patient outcome measured by adherence to the surveillance protocol revealed 4-year OS of 79% (95% CI, 54.8 to 90.9) for patients undergoing full surveillance, 55% (95% CI, 28.5 to 74.5) for partial surveillance, and 15% (95% CI, 5.2 to 28.8) for those not under surveillance (P < .0001). Of the 64 low-grade tumors detected, the cumulative likelihood of transformation from low-to high-grade was 81% for GI cancers within 8 years and 100% for gliomas in 6 years.ConclusionSurveillance and early cancer detection are associated with improved OS for individuals with CMMRD.
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- 2021
132. Design, synthesis, and lead optimization of piperazinyl-pyrimidine analogues as potent small molecules targeting the viral capping machinery of Chikungunya virus
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Battisti, Verena, Moesslacher, Julia, Abdelnabi, Rana, Leyssen, Pieter, Rosales Rosas, Ana Lucia, Langendries, Lana, Aufy, Mohammed, Studenik, Christian, Kratz, Jadel M., Rollinger, Judith M., Puerstinger, Gerhard, Neyts, Johan, Delang, Leen, Urban, Ernst, and Langer, Thierry
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- 2024
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133. Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility
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Pinto, Emilia M., Fridman, Cintia, Figueiredo, Bonald C., Salvador, Hector, Teixeira, Manuel R., Pinto, Carla, Pinheiro, Manuela, Kratz, Christian P., Lavarino, Cinzia, Legal, Edith A.M. F., Le, Anh, Kelly, Gregory, Koeppe, Erika, Stoffel, Elena M., Breen, Kelsey, Hahner, Stefanie, Heinze, Britta, Techavichit, Piti, Krause, Amanda, Ogata, Tsutomu, Fujisawa, Yasuko, Walsh, Michael F., Rana, Huma Q., Maxwell, Kara N., Garber, Judy E., Rodriguez-Galindo, Carlos, Ribeiro, Raul C., and Zambetti, Gerard P.
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- 2024
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134. Psychometric Properties of the Spinal Cord Injury-Quality of Life (SCI-QOL) Resilience Short Form in a Sample With Spinal Cord Injury
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Kuzu, Duygu, Kallen, Michael A., and Kratz, Anna L.
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- 2024
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135. Observations of wrinkling in Non-Crimp Fabrics during multi-ply stack forming using in situ XCT scanning
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Jimenez Martin, Claudia, Maes, Vincent, Rosini, Sebastian, Smith, Ronan, Sinclair, Ian, Mavrogordato, Mark, McMahon, Turlough, and Kratz, James
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- 2024
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136. Christmas Carol Challenge
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Kratz, Marilyn
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General interest - Abstract
Mya finished playing a Christmas carol and looked up at her piano teacher. 'You played that very well,' Ms. Jackson said. 'How would you like to join some of the [...]
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- 2023
137. 492 Pain and falls among persons with multiple sclerosis.
- Author
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Libak Abou and Anna Kratz
- Subjects
Medicine - Abstract
OBJECTIVES/GOALS: Falls are very common among persons with multiple sclerosis (PwMS) due to the disabling symptoms associated with the disease. The relationship between pain and falls is underexplored. This study investigated the relationship between the facets of pain (intensity and interference) and falls in the context of co-occurring symptoms of MS. METHODS/STUDY POPULATION: This is a survey-based study that included 915 adults with MS. Participants provided data on demographics, clinical data, concerns about falling, symptom severity, and occurrence of falls in the past 6 months. Participants also completed the Patient Reported Outcome Measurement Information System (PROMIS) pain interference and pain intensity short forms. Pain interference and pain intensity were separately entered into univariate and multivariable logistic regression models developed to examine the associations between falls incidence and pain. Multivariable models were adjusted for age, sex, years since diagnosis, MS type, Patient Determined Disease Steps, MS status, concerns about falling, fatigue severity, PROMIS depression short form, and PROMIS physical function short form. RESULTS/ANTICIPATED RESULTS: Univariate regression analyses indicated that pain interference (OR = 1.05; 95% CI 1.03 to 1.06; p < 0.01) and pain intensity (OR = 1.03; 95% CI 1.02 to 1.04; p < 0.01) were both associated with falls. Only pain interference remained significantly associated with falls in multivariable regression analysis (OR = 1.02; 95% CI 1.00 to 1.05; p = 0.03). The model explained 25% of the variance in falls. Pain intensity was not associated with falls (OR = 0.98; 95% CI 0.95 to 1.01; p > 0.05) in multivariable regression analysis. DISCUSSION/SIGNIFICANCE: The findings suggest that pain is associated with falls among PwMS. Interventions designed to reduce falls incidence among PwMS may consider the inclusion of pain management as an integral component of those programs.
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- 2024
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138. Die Zukunft aufs Papier träumen: Gedanken und Fantasien von Psychodramatiker*innen der Gegenwart
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Flegelskamp, S., Köfeler, C., Kratz, D., Kress, B., Krüger, M., Laudenberg, B., Zilch-Purucker, B., Meents, A., and von Ameln, F.
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- 2023
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139. Sensor integrating plain bearings: design of an energy-autonomous, temperature-based condition monitoring system
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Baszenski, Thao, Kauth, Kevin, Kratz, Karl-Heinz, Gutiérrez Guzmán, Francisco, Jacobs, Georg, and Gemmeke, Tobias
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- 2023
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140. Molecular complete remission following combination treatment of daratumumab and venetoclax in an adolescent with relapsed mixed phenotype acute leukemia
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Stanulla, Martin, Schewe, Denis M., Bornhauser, Beat, Bourquin, Jean-Pierre, Eckert, Cornelia, Eberl, Wolfgang, Wolf, Saskia, Wolf, Julian, Vogiatzi, Fotini, Bergmann, Anke K., Cario, Gunnar, Beier, Rita, Sauer, Martin, Kratz, Christian P., and Maecker-Kolhoff, Britta
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- 2023
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141. Self-selected meal composition alters the relationship between same-day caloric intake and appetite scores in humans during a long-term ad-libitum feeding study
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Horgan, Angela M., Palmbach, Gundula R., Jordan, Julia M., Callahan, Holly S., Meeuws, Kaatje E., Weigle, David S., Kratz, Mario, and Purnell, Jonathan Q.
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- 2023
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142. Nicotinamide mononucleotide (NMN) alleviates the poly(I:C)-induced inflammatory response in human primary cell cultures
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Hitomi Sano, Anton Kratz, Taiko Nishino, Haruna Imamura, Yuki Yoshida, Noriaki Shimizu, Hiroaki Kitano, and Ayako Yachie
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Medicine ,Science - Abstract
Abstract NMN is the direct precursor of nicotinamide adenine dinucleotide (NAD+) and is considered as a key factor for increasing NAD+ levels and mitochondrial activity in cells. In this study, based on transcriptome analysis, we showed that NMN alleviates the poly(I:C)-induced inflammatory response in cultures of two types of human primary cells, human pulmonary microvascular endothelial cells (HPMECs) and human coronary artery endothelial cells (HCAECs). Major inflammatory mediators, including IL6 and PARP family members, were grouped into coexpressed gene modules and significantly downregulated under NMN exposure in poly(I:C)-activated conditions in both cell types. The Bayesian network analysis of module hub genes predicted common genes, including eukaryotic translation initiation factor 4B (EIF4B), and distinct genes, such as platelet-derived growth factor binding molecules, in HCAECs, which potentially regulate the identified inflammation modules. These results suggest a robust regulatory mechanism by which NMN alleviates inflammatory pathway activation, which may open up the possibility of a new role for NMN replenishment in the treatment of chronic or acute inflammation.
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- 2023
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143. Exploring environmental and physiological drivers of the annual carbon budget of biocrusts from various climatic zones with a mechanistic data-driven model
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Y. Ma, B. Weber, A. Kratz, J. Raggio, C. Colesie, M. Veste, M. Y. Bader, and P. Porada
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Ecology ,QH540-549.5 ,Life ,QH501-531 ,Geology ,QE1-996.5 - Abstract
Biocrusts are a worldwide phenomenon, contributing substantially to ecosystem functioning. Their growth and survival depend on multiple environmental factors, including climatic ones, and the relations of these factors to physiological processes. Responses of biocrusts to individual environmental factors have been examined in a large number of field and laboratory experiments. These observational data, however, have rarely been assembled into a comprehensive, consistent framework that allows quantitative exploration of the roles of multiple environmental factors and physiological properties for the performance of biocrusts, in particular across climatic regions. Here we used a data-driven mechanistic modelling framework to simulate the carbon balance of biocrusts, a key measure of their growth and survival. We thereby assessed the relative importance of physiological and environmental factors for the carbon balance at six study sites that differ in climatic conditions. Moreover, we examined the role of seasonal acclimation of physiological properties using our framework, since the effects of this process on the carbon balance of biocrusts are poorly constrained so far. We found substantial effects of air temperature, CO2 concentration, and physiological parameters that are related to respiration on biocrust carbon balance, which differ, however, in their patterns across regions. The ambient CO2 concentration is the most important factor for biocrusts from drylands, while air temperature has the strongest impact at alpine and temperate sites. Metabolic respiration cost plays a more important role than optimum temperature for gross photosynthesis at the alpine site; this is not the case, however, in drylands and temperate regions. Moreover, we estimated a small annual carbon gain of 1.5 gm-2yr-1 by lichen-dominated biocrust and 1.9 gm-2yr-1 by moss-dominated biocrust at a dryland site, while the biocrusts lost a large amount of carbon at some of the temperate sites (e.g. −92.1 for lichen-dominated and −74.7 gm-2yr-1 for moss-dominated biocrust). These strongly negative values contradict the observed survival of the organisms at the sites and may be caused by the uncertainty in environmental conditions and physiological parameters, which we assessed in a sensitivity analysis. Another potential explanation for this result may be the lack of acclimation in the modelling approach, since the carbon balance can increase substantially when testing for seasonally varying parameters in the sensitivity analysis. We conclude that the uncertainties in air temperature, CO2 concentration, respiration-related physiological parameters, and the absence of seasonal acclimation in the model for humid temperate and alpine regions may be a relevant source of error and should be taken into account in future approaches that aim at estimating the long-term biocrust carbon balance based on ecophysiological data.
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- 2023
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144. Proof of concept of an accelerometer as a trigger for unilateral diaphragmatic pacing: a porcine model
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Tobias Kratz, Roman Ruff, Timo Koch, Anne-Sophie Kronberg, Johannes Breuer, Boulos Asfour, Ulrike Herberg, and Benjamin Bierbach
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Accelerometer ,Diaphragm excursion ,Unilateral diaphragm paralysis ,Unilateral diaphragm pacemaker ,Fontan ,Medical technology ,R855-855.5 - Abstract
Abstract Background Unilateral diaphragmatic paralysis in patients with univentricular heart is a known complication after pediatric cardiac surgery. Because diaphragmatic excursion has a significant influence on perfusion of the pulmonary arteries and hemodynamics in these patients, unilateral loss of function leads to multiple complications. The current treatment of choice, diaphragmatic plication, does not lead to a full return of function. A unilateral diaphragmatic pacemaker has shown potential as a new treatment option. In this study, we investigated an accelerometer as a trigger for a unilateral diaphragm pacemaker (closed-loop system). Methods Seven pigs (mean weight 20.7 ± 2.25 kg) each were implanted with a customized accelerometer on the right diaphragmatic dome. Accelerometer recordings (mV) of the diaphragmatic excursion of the right diaphragm were compared with findings using established methods (fluoroscopy [mm]; ultrasound, M-mode [cm]). For detection of the amplitude of diaphragmatic excursions, the diaphragm was stimulated with increasing amperage by a cuff electrode implanted around the right phrenic nerve. Results Results with the different techniques for measuring diaphragmatic excursions showed correlations between accelerometer and fluoroscopy values (correlation coefficient 0.800, P
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- 2023
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145. Dynamic proteome trade-offs regulate bacterial cell size and growth in fluctuating nutrient environments
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Josiah C. Kratz and Shiladitya Banerjee
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Biology (General) ,QH301-705.5 - Abstract
Abstract Bacteria dynamically regulate cell size and growth to thrive in changing environments. While previous studies have characterized bacterial growth physiology at steady-state, a quantitative understanding of bacterial physiology in time-varying environments is lacking. Here we develop a quantitative theory connecting bacterial growth and division rates to proteome allocation in time-varying nutrient environments. In such environments, cell size and growth are regulated by trade-offs between prioritization of biomass accumulation or division, resulting in decoupling of single-cell growth rate from population growth rate. Specifically, bacteria transiently prioritize biomass accumulation over production of division machinery during nutrient upshifts, while prioritizing division over growth during downshifts. When subjected to pulsatile nutrient concentration, we find that bacteria exhibit a transient memory of previous metabolic states due to the slow dynamics of proteome reallocation. This allows for faster adaptation to previously seen environments and results in division control which is dependent on the time-profile of fluctuations.
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- 2023
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146. The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem
- Author
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RaeLynn Forsyth, Ryan H. Peretz, Angela Dempsey, Jacquelyn Britton, Lisa Kratz, Ada Hamosh, Hilary Vernon, Mark L. Batshaw, and David Valle
- Subjects
CPS1 ,hypothermia ,intellectual disability ,ornithine transcarbamylase deficiency ,OTC ,severe SARS‐CoV‐2 infection ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 ,Genetics ,QH426-470 - Abstract
Abstract Urea cycle disorders (UCDs) comprise a group of inborn errors of metabolism with impaired ammonia clearance and an incidence of ~1:35 000 individuals. First described in the 1970s, the diagnosis and management of these disorders has evolved dramatically. We report on a 59‐year‐old woman with a UCD who contributed to advances in the understanding and treatment of this group of disorders. This individual was diagnosed with carbamoyl phosphate synthetase 1 deficiency based on a biochemical assay under a research context predating genetic sequencing, treated longitudinally as having this metabolic disorder, and was among the first participants to trial UCD pharmaceutical therapies. She ultimately succumbed to a SARS‐CoV‐2 infection while maintaining unexpectedly normal ammonium levels. Postmortem genetic testing revealed ornithine transcarbamylase deficiency. This individual's contributions to the field of UCDs is discussed herein.
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- 2023
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147. Exploring correlations: Human seminal plasma and blood serum biochemistry in relation to semen quality.
- Author
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Sylwia Płaczkowska, Kamil Rodak, Agnieszka Kmieciak, Iwona Gilowska, and Ewa Maria Kratz
- Subjects
Medicine ,Science - Abstract
Male infertility is a pressing global issue, prompting the need for biomarkers correlating with seminal parameters for diagnosis. Our study investigated 10 biochemical and energetic parameters in the seminal plasma and blood sera of fertile (25 subjects) and infertile (88 subjects) Polish men, correlations between their levels in seminal plasma and semen quality, and correlations between blood sera and seminal plasma levels of examined parameters. Infertile men displayed elevated seminal plasma glucose and fructose but reduced HDL levels compared to fertile men. We observed also weak negative correlations between seminal plasma triglycerides and sperm concentration in both groups. Moreover, infertile men exhibited positive correlations between seminal plasma HDL/LDL concentrations and sperm concentration. Fertile men showed moderate negative correlations between glucose/triglycerides concentrations and sperm count and between seminal plasma triglycerides levels and sperm vitality. Semen volume correlated with triglycerides (negative) and fructose (positive) concentrations in infertile men. Sperm motility correlated negatively with total cholesterol, LDL, and triglycerides concentrations in fertile men, and weakly with AMP-activated protein kinase in infertile men. Weak negative correlations between seminal plasma fructose/AMP-activated protein kinase concentrations and sperm progressive motility were observed in infertile men, whereas in fertile men seminal plasma AMP-activated protein kinase levels were positively correlated with progressive motility. Correlation analysis between blood serum and seminal plasma parameters revealed intriguing connections, notably regarding LDL, AMP-activated protein kinase, and carnitine, suggesting systemic influences on seminal plasma composition. These findings emphasize the complex interplay between metabolic factors and sperm parameters, offering promising directions for future research in male infertility diagnostics and therapeutics.
- Published
- 2024
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148. Machine learning in the identification of native species from seed image analysis
- Author
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Francival Cardoso Felix, Dagma Kratz, Richardson Ribeiro, and Antônio Carlos Nogueira
- Subjects
artificial intelligence ,forest seeds ,image processing ,morphobiometry ,seed identification ,Plant culture ,SB1-1110 - Abstract
Abstract: The identification of seeds from native species is a complex assessment due to the high Brazilian biodiversity and varied characteristics between species. The objective was to apply different machine learning classifiers associated with image analysis to identify seeds of forest species. In total, 155 native species belonging to 42 botanical families were analyzed. In addition, to determine the appropriate machine learning classifier, five supervised learning classification techniques were implemented: decision trees (DT), artificial neural networks (ANN), k-nearest neighbors (k-NN), Naive-Bayes classifier (NBC) and support vector machine (SVM), which had their performance evaluated. For modeling, 66% of the seeds’ morphobiometric data were used to train the classifiers, while 34% were reserved for validation. The classifiers are promising tools for identifying species from seed images. The decision tree (DT) classifier showed greater accuracy for correct species identification (82.8%), followed by ANN (81.7%), k-NN (81.7%), NBC (81.1%) and SVM (78.7%). Therefore, it is possible to identify seeds of native species from images and machine learning with a satisfactory accuracy rate. Finally, the decision tree classifier is recommended.
- Published
- 2024
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149. Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility
- Author
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Emilia M. Pinto, Cintia Fridman, Bonald C. Figueiredo, Hector Salvador, Manuel R. Teixeira, Carla Pinto, Manuela Pinheiro, Christian P. Kratz, Cinzia Lavarino, Edith A.M. F. Legal, Anh Le, Gregory Kelly, Erika Koeppe, Elena M. Stoffel, Kelsey Breen, Stefanie Hahner, Britta Heinze, Piti Techavichit, Amanda Krause, Tsutomu Ogata, Yasuko Fujisawa, Michael F. Walsh, Huma Q. Rana, Kara N. Maxwell, Judy E. Garber, Carlos Rodriguez-Galindo, Raul C. Ribeiro, and Gerard P. Zambetti
- Subjects
R337H ,founder mutation ,haplotype ,ancestry ,Iberian Peninsula ,Brazil ,Genetics ,QH426-470 - Abstract
Summary: The germline TP53 p.R337H mutation is reported as the most common germline TP53 variant. It exists at a remarkably high frequency in the population of southeast Brazil as founder mutation in two distinct haplotypes with the most frequent co-segregating with the p.E134∗ variant of the XAF1 tumor suppressor and an increased cancer risk. Founder mutations demonstrate linkage disequilibrium with neighboring genetic polymorphic markers that can be used to identify the founder variant in different geographic regions and diverse populations. We report here a shared haplotype among Brazilian, Portuguese, and Spanish families and the existence of three additional distinct TP53 p.R337H alleles. Mitochondrial DNA sequencing and Y-STR profiling of Brazilian carriers of the founder TP53 p.R337H allele reveal an excess of Native American haplogroups in maternal lineages and exclusively European haplogroups in paternal lineages, consistent with communities established through male European settlers with extensive intermarriage with Indigenous women. The identification of founder and independent TP53 p.R337H alleles underlines the importance for considering the haplotype as a functional unit and the additive effects of constitutive polymorphisms and associated variants in modifier genes that can influence the cancer phenotype.
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- 2024
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150. Pendant Drop Tensiometry: A Machine Learning Approach
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Kratz, Felix and Kierfeld, Jan
- Subjects
Condensed Matter - Soft Condensed Matter ,Computer Science - Machine Learning ,Physics - Chemical Physics ,Physics - Computational Physics - Abstract
Modern pendant drop tensiometry relies on numerical solution of the Young-Laplace equation and allow to determine the surface tension from a single picture of a pendant drop with high precision. Most of these techniques solve the Young-Laplace equation many times over to find the material parameters that provide a fit to a supplied image of a real droplet. Here we introduce a machine learning approach to solve this problem in a computationally more efficient way. We train a deep neural network to determine the surface tension of a given droplet shape using a large training set of numerically generated droplet shapes. We show that the deep learning approach is superior to the current state of the art shape fitting approach in speed and precision, in particular if shapes in the training set reflect the sensitivity of the droplet shape with respect to surface tension. In order to derive such an optimized training set we clarify the role of the Worthington number as quality indicator in conventional shape fitting and in the machine learning approach. Our approach demonstrates the capabilities of deep neural networks in the material parameter determination from rheological deformation experiments in general.
- Published
- 2020
- Full Text
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