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Kristine lynch

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https://www.readbyqxmd.com/read/27812541/muscle-oxidative-phosphorylation-quantitation-using-creatine-chemical-exchange-saturation-transfer-crcest-mri-in-mitochondrial-disorders
#1
Catherine DeBrosse, Ravi Prakash Reddy Nanga, Neil Wilson, Kevin D'Aquilla, Mark Elliott, Hari Hariharan, Felicia Yan, Kristin Wade, Sara Nguyen, Diana Worsley, Chevonne Parris-Skeete, Elizabeth McCormick, Rui Xiao, Zuela Zolkipli Cunningham, Lauren Fishbein, Katherine L Nathanson, David R Lynch, Virginia A Stallings, Marc Yudkoff, Marni J Falk, Ravinder Reddy, Shana E McCormack
Systemic mitochondrial energy deficiency is implicated in the pathophysiology of many age-related human diseases. Currently available tools to estimate mitochondrial oxidative phosphorylation (OXPHOS) capacity in skeletal muscle in vivo lack high anatomic resolution. Muscle groups vary with respect to their contractile and metabolic properties. Therefore, muscle group-specific estimates of OXPHOS would be advantageous. To address this need, a noninvasive creatine chemical exchange saturation transfer (CrCEST) MRI technique has recently been developed, which provides a measure of free creatine...
November 3, 2016: JCI Insight
https://www.readbyqxmd.com/read/27776832/biological-basis-for-the-clustering-of-symptoms
#2
Debra Lynch Kelly, Kristin Dickinson, Chao-Pin Hsiao, Nada Lukkahatai, Velda Gonzalez-Marrero, Margaret McCabe, Leorey N Saligan
OBJECTIVES: Identification of biologic pathways of symptom clusters is necessary to develop precision therapies for distressing symptoms. This review examined extant literature evaluating relationships between biomarkers and symptom clusters in cancer survivors. DATA SOURCES: PubMed, CINAHL, Web of Science and Cochrane Library were searched using terms "biological markers" or "biomarkers" and "symptom cluster" or "symptom complex" or "multiple symptoms." CONCLUSION: Biomarkers related to inflammation (eg, cytokines) were the most studied and showed the most significant relationships with clusters of symptoms...
October 21, 2016: Seminars in Oncology Nursing
https://www.readbyqxmd.com/read/27659441/cigarette-smoking-status-and-receipt-of-an-opioid-prescription-among-veterans-of-recent-wars
#3
Lori A Bastian, Mary A Driscoll, Alicia A Heapy, William C Becker, Joseph L Goulet, Robert D Kerns, Eric C DeRycke, Elliottnell Perez, Shaina M Lynch, Kristin Mattocks, Aimee R Kroll-Desrosiers, Cynthia A Brandt, Melissa Skanderson, Harini Bathulapalli, Sally G Haskell
 Cigarette smokers seeking treatment for chronic pain have higher rates of opioid use than nonsmokers. This study aims to examine whether veterans of Operations Enduring Freedom/Iraqi Freedom/New Dawn (OEF/OIF/OND) who smoke are more likely to receive an opioid prescription than nonsmokers, adjusting for current pain intensity. DESIGN : Cross-sectional analysis of a cohort study of OEF/OIF/OND veterans who had at least one visit to a Veterans Health Administration primary care clinic between 2001 and 2012...
September 21, 2016: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/27362890/baseline-ability-makes-a-larger-contribution-to-race-performance-in-high-school-sprinters-than-race-experience-or-training-exposure
#4
Kristine E Lynch, Alun Thomas, Bryan Gibson
PURPOSE: There has long been a debate regarding the importance of talent versus training in athletic performance. In this study we sought to quantify their relative contributions to the race performance of high-school sprinters. METHODS: Using race results from the athletic.net website, we identified high-school athletes who participated in at least one race in both 9th and 12th grade in the 100 m, 200 m or 400 m. Athletes with a record of racing before high school were excluded from the analyses...
November 2016: Pediatric Exercise Science
https://www.readbyqxmd.com/read/27078625/lung-transplant-outcomes-in-systemic-sclerosis-with-significant-esophageal-dysfunction-a-comprehensive-single-center-experience
#5
Catherine H Miele, Kristin Schwab, Rajeev Saggar, Erin Duffy, David Elashoff, Chi-Hong Tseng, Sam Weigt, Deepshikha Charan, Fereidoun Abtin, Jimmy Johannes, Ariss Derhovanessian, Jeffrey Conklin, Kevin Ghassemi, Dinesh Khanna, Osama Siddiqui, Abbas Ardehali, Curtis Hunter, Murray Kwon, Reshma Biniwale, Michelle Lo, Elizabeth Volkmann, David Torres Barba, John A Belperio, David Sayah, Thomas Mahrer, Daniel E Furst, Suzanne Kafaja, Philip Clements, Michael Shino, Aric Gregson, Bernard Kubak, Joseph P Lynch, David Ross, Rajan Saggar
RATIONALE: Consideration of lung transplantation in patients with systemic sclerosis (SSc) remains guarded, often due to the concern for esophageal dysfunction and the associated potential for allograft injury and suboptimal post-lung transplantation outcomes. OBJECTIVES: The purpose of this study was to systematically report our single-center experience regarding lung transplantation in the setting of SSc, with a particular focus on esophageal dysfunction. METHODS: We retrospectively reviewed all lung transplants at our center from January 1, 2000 through August 31, 2012 (n = 562), comparing the SSc group (n = 35) to the following lung transplant diagnostic subsets: all non-SSc (n = 527), non-SSc diffuse fibrotic lung disease (n = 264), and a non-SSc matched group (n = 109)...
June 2016: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/27059949/catabolic-defect-of-branched-chain-amino-acids-promotes-heart-failure
#6
Haipeng Sun, Kristine C Olson, Chen Gao, Domenick A Prosdocimo, Meiyi Zhou, Zhihua Wang, Darwin Jeyaraj, Ji-Youn Youn, Shuxun Ren, Yunxia Liu, Christoph D Rau, Svati Shah, Olga Ilkayeva, Wen-Jun Gui, Noelle S William, R Max Wynn, Christopher B Newgard, Hua Cai, Xinshu Xiao, David T Chuang, Paul Christian Schulze, Christopher Lynch, Mukesh K Jain, Yibin Wang
BACKGROUND: Although metabolic reprogramming is critical in the pathogenesis of heart failure, studies to date have focused principally on fatty acid and glucose metabolism. Contribution of amino acid metabolic regulation in the disease remains understudied. METHODS AND RESULTS: Transcriptomic and metabolomic analyses were performed in mouse failing heart induced by pressure overload. Suppression of branched-chain amino acid (BCAA) catabolic gene expression along with concomitant tissue accumulation of branched-chain α-keto acids was identified as a significant signature of metabolic reprogramming in mouse failing hearts and validated to be shared in human cardiomyopathy hearts...
May 24, 2016: Circulation
https://www.readbyqxmd.com/read/26916075/tumor-eosinophil-infiltration-and-improved-survival-of-colorectal-cancer-patients-iowa-women-s-health-study
#7
Anna E Prizment, Robert A Vierkant, Thomas C Smyrk, Lori S Tillmans, James J Lee, P Sriramarao, Heather H Nelson, Charles F Lynch, Stephen N Thibodeau, Timothy R Church, James R Cerhan, Kristin E Anderson, Paul J Limburg
The role of the innate immune response in colorectal cancer is understudied. We examined the survival of colorectal cancer patients in relation to eosinophils, innate immune cells, infiltrating the tumor. Tissue microarrays were constructed from paraffin-embedded tumor tissues collected between 1986 and 2002 from 441 post-menopausal women diagnosed with colorectal cancer in the Iowa Women's Health Study. Tissue microarrays were stained with an eosinophil peroxidase antibody. Eosinophils in epithelial and stromal tissues within the tumor (called epithelial and stromal eosinophils, hereafter) were counted and scored into three and four categories, respectively...
May 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/26235985/mutations-in-ddx3x-are-a-common-cause-of-unexplained-intellectual-disability-with-gender-specific-effects-on-wnt-signaling
#8
Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Margot R F Reijnders, Hanka Venselaar, Céline Helsmoortel, Megan T Cho, Alexander Hoischen, Lisenka E L M Vissers, Tom S Koemans, Willemijn Wissink-Lindhout, Evan E Eichler, Corrado Romano, Hilde Van Esch, Connie Stumpel, Maaike Vreeburg, Eric Smeets, Karin Oberndorff, Bregje W M van Bon, Marie Shaw, Jozef Gecz, Eric Haan, Melanie Bienek, Corinna Jensen, Bart L Loeys, Anke Van Dijck, A Micheil Innes, Hilary Racher, Sascha Vermeer, Nataliya Di Donato, Andreas Rump, Katrina Tatton-Brown, Michael J Parker, Alex Henderson, Sally A Lynch, Alan Fryer, Alison Ross, Pradeep Vasudevan, Usha Kini, Ruth Newbury-Ecob, Kate Chandler, Alison Male, Sybe Dijkstra, Jolanda Schieving, Jacques Giltay, Koen L I van Gassen, Janneke Schuurs-Hoeijmakers, Perciliz L Tan, Igor Pediaditakis, Stefan A Haas, Kyle Retterer, Patrick Reed, Kristin G Monaghan, Eden Haverfield, Marvin Natowicz, Angela Myers, Michael C Kruer, Quinn Stein, Kevin A Strauss, Karlla W Brigatti, Katherine Keating, Barbara K Burton, Katherine H Kim, Joel Charrow, Jennifer Norman, Audrey Foster-Barber, Antonie D Kline, Amy Kimball, Elaine Zackai, Margaret Harr, Joyce Fox, Julie McLaughlin, Kristin Lindstrom, Katrina M Haude, Kees van Roozendaal, Han Brunner, Wendy K Chung, R Frank Kooy, Rolph Pfundt, Vera Kalscheuer, Sarju G Mehta, Nicholas Katsanis, Tjitske Kleefstra
Intellectual disability (ID) affects approximately 1%-3% of humans with a gender bias toward males. Previous studies have identified mutations in more than 100 genes on the X chromosome in males with ID, but there is less evidence for de novo mutations on the X chromosome causing ID in females. In this study we present 35 unique deleterious de novo mutations in DDX3X identified by whole exome sequencing in 38 females with ID and various other features including hypotonia, movement disorders, behavior problems, corpus callosum hypoplasia, and epilepsy...
August 6, 2015: American Journal of Human Genetics
https://www.readbyqxmd.com/read/26223303/quality-and-quantity-of-tfh-cells-are-critical-for-broad-antibody-development-in-shivad8-infection
#9
Takuya Yamamoto, Rebecca M Lynch, Rajeev Gautam, Rodrigo Matus-Nicodemos, Stephen D Schmidt, Kristin L Boswell, Sam Darko, Patrick Wong, Zizhang Sheng, Constantinos Petrovas, Adrian B McDermott, Robert A Seder, Brandon F Keele, Lawrence Shapiro, Daniel C Douek, Yoshiaki Nishimura, John R Mascola, Malcolm A Martin, Richard A Koup
Broadly neutralizing antibodies (bNAbs) protect against HIV-1 infection, yet how they are generated during chronic infection remains unclear. It is known that T follicular helper (TFH) cells are needed to promote affinity maturation of B cells during an immune response; however, the role of TFH during HIV-1 infection is undefined within lymph node germinal centers (GCs). We use nonhuman primates to investigate the relationship in the early stage of chronic SHIVAD8 (simian-human immunodeficiency virus AD8) infection between envelope (Env)-specific TFH cells, Env-specific B cells, virus, and the generation of bNAbs during later infection...
July 29, 2015: Science Translational Medicine
https://www.readbyqxmd.com/read/26036338/universal-tumor-screening-for-lynch-syndrome-assessment-of-the-perspectives-of-patients-with-colorectal-cancer-regarding-benefits-and-barriers
#10
Jessica Ezzell Hunter, Jamilyn M Zepp, Mari J Gilmore, James V Davis, Elizabeth J Esterberg, Kristin R Muessig, Susan K Peterson, Sapna Syngal, Louise S Acheson, Georgia L Wiesner, Jacob A Reiss, Katrina A B Goddard
BACKGROUND: Universal tumor screening for Lynch syndrome, the most common form of hereditary colorectal cancer (CRC), has been recommended among all patients newly diagnosed with CRC. However, there is limited literature regarding patient perspectives of tumor screening for Lynch syndrome among patients with CRC who are not selected for screening based on family history criteria. METHODS: A total of 145 patients aged 39 to 87 years were administered surveys assessing perceived risk, patient perspectives, and potential benefits of and barriers to tumor screening for Lynch syndrome...
September 15, 2015: Cancer
https://www.readbyqxmd.com/read/25953398/the-in-vivo-pig-a-assay-a-report-of-the-international-workshop-on-genotoxicity-testing-iwgt-workgroup
#11
B Bhaskar Gollapudi, Anthony M Lynch, Robert H Heflich, Stephen D Dertinger, Vasily N Dobrovolsky, Roland Froetschl, Katsuyoshi Horibata, Michelle O Kenyon, Takafumi Kimoto, David P Lovell, Leon F Stankowski, Paul A White, Kristine L Witt, Jennifer Y Tanir
The in vivo Pig-a assay uses flow cytometry to measure phenotypic variants for antibody binding to cell surface glycosylphosphatidylinositol (GPI)-anchored proteins. There is good evidence suggesting that the absence of antibody binding is the result of a mutation in the endogenous X-linked Pig-a gene, which forms the rationale for the assay. Although the assay has been performed with several types of hematopoietic cells and in a variety of mammalian species, including humans, currently it is optimized only for measuring CD59-deficient (presumed Pig-a mutant) erythrocytes in the peripheral blood of rats...
May 1, 2015: Mutation Research. Genetic Toxicology and Environmental Mutagenesis
https://www.readbyqxmd.com/read/25880440/stakeholder-perspectives-on-implementing-a-universal-lynch-syndrome-screening-program-a-qualitative-study-of-early-barriers-and-facilitators
#12
Jennifer L Schneider, James Davis, Tia L Kauffman, Jacob A Reiss, Cheryl McGinley, Kathleen Arnold, Jamilyn Zepp, Marian Gilmore, Kristin R Muessig, Sapna Syngal, Louise Acheson, Georgia L Wiesner, Susan K Peterson, Katrina A B Goddard
PURPOSE: Evidence-based guidelines recommend that all newly diagnosed colon cancer be screened for Lynch syndrome (LS), but best practices for implementing universal tumor screening have not been extensively studied. We interviewed a range of stakeholders in an integrated health-care system to identify initial factors that might promote or hinder the successful implementation of a universal LS screening program. METHODS: We conducted interviews with health-plan leaders, managers, and staff...
February 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/25871441/evaluation-of-cadd-scores-in-curated-mismatch-repair-gene-variants-yields-a-model-for-clinical-validation-and-prioritization
#13
K Joeri van der Velde, Joël Kuiper, Bryony A Thompson, John-Paul Plazzer, Gert van Valkenhoef, Mark de Haan, Jan D H Jongbloed, Cisca Wijmenga, Tom J de Koning, Kristin M Abbott, Richard Sinke, Amanda B Spurdle, Finlay Macrae, Maurizio Genuardi, Rolf H Sijmons, Morris A Swertz
Next-generation sequencing in clinical diagnostics is providing valuable genomic variant data, which can be used to support healthcare decisions. In silico tools to predict pathogenicity are crucial to assess such variants and we have evaluated a new tool, Combined Annotation Dependent Depletion (CADD), and its classification of gene variants in Lynch syndrome by using a set of 2,210 DNA mismatch repair gene variants. These had already been classified by experts from InSiGHT's Variant Interpretation Committee...
July 2015: Human Mutation
https://www.readbyqxmd.com/read/25840445/topical-review-eosinophilic-esophagitis-in-children-implications-for-health-related-quality-of-life-and-potential-avenues-for-future-research
#14
REVIEW
Mary K Lynch, Kristin T Avis, Reed A Dimmitt, Burel R Goodin
OBJECTIVE: To characterize the health-related quality of life (HRQoL) of children with eosinophilic esophagitis (EoE) as well as generate novel hypotheses for future research in this pediatric population. METHOD: A literature review was completed using PubMed and the keywords below. RESULTS: Research has shown that for children with EoE and their parents, symptom experiences and recommended treatments can have a negative impact on HRQoL. However, studies have yet to adequately address mechanisms that may help explain why this is...
September 2015: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/25673644/clinical-acquired-resistance-to-raf-inhibitor-combinations-in-braf-mutant-colorectal-cancer-through-mapk-pathway-alterations
#15
Leanne G Ahronian, Erin M Sennott, Eliezer M Van Allen, Nikhil Wagle, Eunice L Kwak, Jason E Faris, Jason T Godfrey, Koki Nishimura, Kerry D Lynch, Craig H Mermel, Elizabeth L Lockerman, Anuj Kalsy, Joseph M Gurski, Samira Bahl, Kristin Anderka, Lisa M Green, Niall J Lennon, Tiffany G Huynh, Mari Mino-Kenudson, Gad Getz, Dora Dias-Santagata, A John Iafrate, Jeffrey A Engelman, Levi A Garraway, Ryan B Corcoran
UNLABELLED: BRAF mutations occur in approximately 10% of colorectal cancers. Although RAF inhibitor monotherapy is highly effective in BRAF-mutant melanoma, response rates in BRAF-mutant colorectal cancer are poor. Recent clinical trials of combined RAF/EGFR or RAF/MEK inhibition have produced improved efficacy, but patients ultimately develop resistance. To identify molecular alterations driving clinical acquired resistance, we performed whole-exome sequencing on paired pretreatment and postprogression tumor biopsies from patients with BRAF-mutant colorectal cancer treated with RAF inhibitor combinations...
April 2015: Cancer Discovery
https://www.readbyqxmd.com/read/25650184/associations-between-environmental-exposures-and-incident-colorectal-cancer-by-esr2-protein-expression-level-in-a-population-based-cohort-of-older-women
#16
Lori S Tillmans, Robert A Vierkant, Alice H Wang, Niloy Jewel Samadder, Charles F Lynch, Kristin E Anderson, Amy J French, Robert W Haile, Lisa J Harnack, John D Potter, Susan L Slager, Thomas C Smyrk, Stephen N Thibodeau, James R Cerhan, Paul J Limburg
BACKGROUND: Cigarette smoking (smoking), hormone therapy (MHT), and folate intake (folate) are each thought to influence colorectal cancer risk, but the underlying molecular mechanisms remain incompletely defined. Expression of estrogen receptor β (ESR2) has been associated with colorectal cancer stage and survival. METHODS: In this prospective cohort study, we examined smoking, MHT, and folate-associated colorectal cancer risks by ESR2 protein expression level among participants in the Iowa Women's Health Study (IWHS)...
April 2015: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/25194323/the-effects-of-ecology-and-evolutionary-history-on-robust-capuchin-morphological-diversity
#17
Kristin A Wright, Barth W Wright, Susan M Ford, Dorothy Fragaszy, Patricia Izar, Marilyn Norconk, Thomas Masterson, David G Hobbs, Michael E Alfaro, Jessica W Lynch Alfaro
Recent molecular work has confirmed the long-standing morphological hypothesis that capuchins are comprised of two distinct clades, the gracile (untufted) capuchins (genus Cebus, Erxleben, 1777) and the robust (tufted) capuchins (genus Sapajus Kerr, 1792). In the past, the robust group was treated as a single, undifferentiated and cosmopolitan species, with data from all populations lumped together in morphological and ecological studies, obscuring morphological differences that might exist across this radiation...
January 2015: Molecular Phylogenetics and Evolution
https://www.readbyqxmd.com/read/25186627/frequency-of-mutations-in-individuals-with-breast-cancer-referred-for-brca1-and-brca2-testing-using-next-generation-sequencing-with-a-25-gene-panel
#18
Nadine Tung, Chiara Battelli, Brian Allen, Rajesh Kaldate, Satish Bhatnagar, Karla Bowles, Kirsten Timms, Judy E Garber, Christina Herold, Leif Ellisen, Jill Krejdovsky, Kim DeLeonardis, Kristin Sedgwick, Kathleen Soltis, Benjamin Roa, Richard J Wenstrup, Anne-Renee Hartman
BACKGROUND: Next-generation sequencing (NGS) allows for simultaneous sequencing of multiple cancer susceptibility genes and, for an individual, may be more efficient and less expensive than sequential testing. The authors assessed the frequency of deleterious germline mutations among individuals with breast cancer who were referred for BRCA1 and BRCA2 (BRCA1/2) gene testing using a panel of 25 genes associated with inherited cancer predisposition. METHODS: This was a cross-sectional study using NGS in 2158 individuals, including 1781 who were referred for commercial BRCA1/2 gene testing (cohort 1) and 377 who had detailed personal and family history and had previously tested negative for BRCA1/2 mutations (cohort 2)...
January 1, 2015: Cancer
https://www.readbyqxmd.com/read/24875398/assessment-of-anovulation-in-eumenorrheic-women-comparison-of-ovulation-detection-algorithms
#19
COMPARATIVE STUDY
Kristine E Lynch, Sunni L Mumford, Karen C Schliep, Brian W Whitcomb, Shvetha M Zarek, Anna Z Pollack, Elizabeth R Bertone-Johnson, Michelle Danaher, Jean Wactawski-Wende, Audrey J Gaskins, Enrique F Schisterman
OBJECTIVE: To compare previously used algorithms to identify anovulatory menstrual cycles in women self-reporting regular menses. DESIGN: Prospective cohort study. SETTING: Western New York. PATIENT(S): Two hundred fifty-nine healthy, regularly menstruating women followed for one (n=9) or two (n=250) menstrual cycles (2005-2007). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Prevalence of sporadic anovulatory cycles identified using 11 previously defined algorithms that use E2, P, and LH concentrations...
August 2014: Fertility and Sterility
https://www.readbyqxmd.com/read/24767862/braf-kras-gene-sequencing-of-sebaceous-neoplasms-after-mismatch-repair-protein-analysis
#20
Kristine M Cornejo, Lloyd Hutchinson, April Deng, Keith Tomaszewicz, Matthew Welch, Stephen Lyle, Karen Dresser, Ediz F Cosar
Sebaceous neoplasms are cutaneous markers for the autosomal-dominant Muir-Torre syndrome (MTS). This phenotypic variant of Lynch syndrome (LS) is caused by germline mutations in DNA mismatch repair (MMR) genes. Microsatellite instability or loss of protein expression suggests a mutation or promoter hypermethylation in 1 of the MMR genes. BRAF gene sequencing may help to distinguish between patients with sporadic and LS-associated colorectal carcinomas with loss of MLH1 expression. LS-associated carcinomas are virtually negative for BRAF mutations, but a subset harbors KRAS mutations...
June 2014: Human Pathology
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