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https://www.readbyqxmd.com/read/28664346/success-of-referral-to-genetic-counseling-after-positive-lynch-syndrome-screening-test
#1
Robin F Irons, Krysta M Contino, Janice J Horte, Brooke Levin, Kristin D Mattie, Margaret Wight, Michael E Kwiatt, Kathryn C Behling, Tina B Edmonston, Steven J McClane
PURPOSE: Lynch syndrome (LS) is a hereditary condition that increases one's risk of developing colorectal, endometrial, and other extracolonic cancers. MD Anderson Cancer Center at Cooper implemented a reflex screening protocol for DNA mismatch repair (dMMR) deficiency. Those with findings suspicious for LS were referred for genetic counseling (GC). Our goal was to assess compliance with GC and factors associated with successful follow-up. METHODS: Immunohistochemistry (IHC) for the MMR proteins MSH2, MLH1, MSH6, and PMS2 was performed on all colorectal tumor resections from patients ≤70 years old and all stage II cancers...
June 29, 2017: International Journal of Colorectal Disease
https://www.readbyqxmd.com/read/28578175/trends-in-hysterectomy-rates-among-women-veterans-in-the%C3%A2-us-department-of-veterans-affairs
#2
Jodie G Katon, Kristen Gray, Lisa Callegari, Carolyn Gardella, Carolyn Gibson, Erica Ma, Kristine E Lynch, Laurie Zephyrin
BACKGROUND: Prior studies demonstrate a higher prevalence of hysterectomy among veterans compared with nonveterans. While studies identify overall decreasing hysterectomy rates in the United States, none report rates of hysterectomy among women veterans. Given the increasing numbers of women veterans using Veterans Affairs health care, there is an ongoing need to ensure high-quality gynecology care. Therefore, it is important to examine current hysterectomy trends, including proportion of minimally invasive surgeries, among veterans using Veterans Affairs health care...
May 31, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28557581/quality-of-life-in-youth-with-obstructive-sleep-apnea-syndrome-osas-treated-with-continuous-positive-airway-pressure-cpap-therapy
#3
Mary K Lynch, Lindsey C Elliott, Kristin T Avis, David C Schwebel, Burel R Goodin
OBJECTIVE/BACKGROUND: Improvement is sought for youth with obstructive sleep apnea syndrome (OSAS) who have poor quality of life (QoL), which resolves somewhat following treatment. One mitigating factor in improved QoL following treatment may be adherence to the CPAP protocol, which presents a barrier to most youth. This study explored relations between CPAP adherence and QoL in youth with OSAS. PARTICIPANTS: We recruited 42 youth-caregiver dyads in which youth between the ages of 8 and 16 years were diagnosed with OSAS and required CPAP use as part of their treatment plan...
May 30, 2017: Behavioral Sleep Medicine
https://www.readbyqxmd.com/read/28525438/slowing-bmi-growth-trajectories-in-elementary-school-aged-children-the-northeast-iowa-food-and-fitness-initiative
#4
Loren L Toussaint, Kristin Housholder, Katelyn Janssen, Ann Mansfield, Brian A Lynch
This project examines the Northeast Iowa Food and Fitness Initiative, a policy-, community-, and school-based effort to slow children's body mass index (BMI) growth over 6 years. Kindergarteners (K) to fifth graders (5) from 10 different school districts participated (N = 4101). Students with 0 to 1 years of initiative exposure showed greater growth in BMI compared with children who had 2 to 6 years of exposure, resulting in K-5 BMI savings of 1.5 points (6 lb) for median-height boys and girls. Results suggest that changes to policies, communities, and schools may provide effective obesity reduction in children...
July 2017: Family & Community Health
https://www.readbyqxmd.com/read/28466842/comprehensive-population-wide-analysis-of-lynch-syndrome-in-iceland-reveals-founder-mutations-in-msh6-and-pms2
#5
Sigurdis Haraldsdottir, Thorunn Rafnar, Wendy L Frankel, Sylvia Einarsdottir, Asgeir Sigurdsson, Heather Hampel, Petur Snaebjornsson, Gisli Masson, Daniel Weng, Reynir Arngrimsson, Birte Kehr, Ahmet Yilmaz, Stefan Haraldsson, Patrick Sulem, Tryggvi Stefansson, Peter G Shields, Fridbjorn Sigurdsson, Tanios Bekaii-Saab, Pall H Moller, Margret Steinarsdottir, Kristin Alexiusdottir, Megan Hitchins, Colin C Pritchard, Albert de la Chapelle, Jon G Jonasson, Richard M Goldberg, Kari Stefansson
Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch syndrome, associated cancer risks and pathogenicity of several variants in the Icelandic population. We use colorectal cancer samples from 1,182 patients diagnosed between 2000-2009. One-hundred and thirty-two (11.2%) tumours are mismatch repair deficient per immunohistochemistry...
May 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/28426643/incidence-and-trends-of-infections-with-pathogens-transmitted-commonly-through-food-and-the-effect-of-increasing-use-of-culture-independent-diagnostic-tests-on-surveillance-foodborne-diseases-active-surveillance-network-10-u-s-sites-2013-2016
#6
Ellyn P Marder, Paul R Cieslak, Alicia B Cronquist, John Dunn, Sarah Lathrop, Therese Rabatsky-Ehr, Patricia Ryan, Kirk Smith, Melissa Tobin-D'Angelo, Duc J Vugia, Shelley Zansky, Kristin G Holt, Beverly J Wolpert, Michael Lynch, Robert Tauxe, Aimee L Geissler
Foodborne diseases represent a substantial public health concern in the United States. CDC's Foodborne Diseases Active Surveillance Network (FoodNet) monitors cases reported from 10 U.S. sites* of laboratory-diagnosed infections caused by nine enteric pathogens commonly transmitted through food. This report describes preliminary surveillance data for 2016 on the nine pathogens and changes in incidences compared with 2013-2015. In 2016, FoodNet identified 24,029 infections, 5,512 hospitalizations, and 98 deaths caused by these pathogens...
April 21, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28343630/de-novo-truncating-mutations-in-the-last-and-penultimate-exons-of-ppm1d-cause-an-intellectual-disability-syndrome
#7
Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C Herkert, Elysa J Marco, Marjolein H Willemsen, Tjitske Kleefstra, Mark Hannibal, Joseph T Shieh, Sally Ann Lynch, Frances Flinter, David R FitzPatrick, Alice Gardham, Birgitta Bernhard, Nicola Ragge, Ruth Newbury-Ecob, Raphael Bernier, Malin Kvarnung, E A Helena Magnusson, Marja W Wessels, Marjon A van Slegtenhorst, Kristin G Monaghan, Petra de Vries, Joris A Veltman, Christopher J Lord, Lisenka E L M Vissers, Bert B A de Vries
Intellectual disability (ID) is a highly heterogeneous disorder involving at least 600 genes, yet a genetic diagnosis remains elusive in ∼35%-40% of individuals with moderate to severe ID. Recent meta-analyses statistically analyzing de novo mutations in >7,000 individuals with neurodevelopmental disorders highlighted mutations in PPM1D as a possible cause of ID. PPM1D is a type 2C phosphatase that functions as a negative regulator of cellular stress-response pathways by mediating a feedback loop of p38-p53 signaling, thereby contributing to growth inhibition and suppression of stress-induced apoptosis...
April 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28176204/universal-screening-for-lynch-syndrome-among-patients-with-colorectal-cancer-patient-perspectives-on-screening-and-sharing-results-with-at-risk-relatives
#8
Jessica Ezzell Hunter, Kathleen A Arnold, Jennifer E Cook, Jamilyn Zepp, Marian J Gilmore, Alan F Rope, James V Davis, Kellene M Bergen, Elizabeth Esterberg, Kristin R Muessig, Susan K Peterson, Sapna Syngal, Louise Acheson, Georgia Wiesner, Jacob Reiss, Katrina A B Goddard
Universal screening for Lynch syndrome (LS) among all cases of colorectal cancer (CRC) could increase the diagnosis of LS and reduce morbidity and mortality of LS-associated cancers. Given universal screening includes all patients, irrespective of high risk factors such early age at onset or family history of CRC, it is important to understand perspectives of all patients and not just those at high risk. As part of a study to assess the feasibility and implementation of universal screening, 189 patients newly diagnosed with CRC were surveyed about their interest in screening for LS and communication of results with at-risk family members...
February 7, 2017: Familial Cancer
https://www.readbyqxmd.com/read/27979806/cytotoxic-t-cells-and-granzyme-b-associated-with-improved-colorectal-cancer-survival-in-a-prospective-cohort-of-older-women
#9
Anna E Prizment, Robert A Vierkant, Thomas C Smyrk, Lori S Tillmans, Heather H Nelson, Charles F Lynch, Thomas Pengo, Stephen N Thibodeau, Timothy R Church, James R Cerhan, Kristin E Anderson, Paul J Limburg
Background: Host immune response may predict the course of colorectal cancer. We examined the survival of 468 colorectal cancer patients associated with two tumor-infiltrating immune biomarkers, the number of cytotoxic T lymphocytes (CTLs), and the activated CTLs, as reflected by the number of cells expressing granzyme B (GZMB) in the prospective Iowa Women's Health Study.Methods: Using paraffin-embedded tissue samples, we constructed and immunostained tumor microarrays with CD8 (for CTL) and GZMB antibodies...
April 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/27978560/prevalence-and-spectrum-of-germline-cancer-susceptibility-gene-mutations-among-patients-with-early-onset-colorectal-cancer
#10
Rachel Pearlman, Wendy L Frankel, Benjamin Swanson, Weiqiang Zhao, Ahmet Yilmaz, Kristin Miller, Jason Bacher, Christopher Bigley, Lori Nelsen, Paul J Goodfellow, Richard M Goldberg, Electra Paskett, Peter G Shields, Jo L Freudenheim, Peter P Stanich, Ilene Lattimer, Mark Arnold, Sandya Liyanarachchi, Matthew Kalady, Brandie Heald, Carla Greenwood, Ian Paquette, Marla Prues, David J Draper, Carolyn Lindeman, J Philip Kuebler, Kelly Reynolds, Joanna M Brell, Amy A Shaper, Sameer Mahesh, Nicole Buie, Kisa Weeman, Kristin Shine, Mitchell Haut, Joan Edwards, Shyamal Bastola, Karen Wickham, Karamjit S Khanduja, Rosemary Zacks, Colin C Pritchard, Brian H Shirts, Angela Jacobson, Brian Allen, Albert de la Chapelle, Heather Hampel
Importance: Hereditary cancer syndromes infer high cancer risks and require intensive cancer surveillance, yet the prevalence and spectrum of these conditions among unselected patients with early-onset colorectal cancer (CRC) is largely undetermined. Objective: To determine the frequency and spectrum of cancer susceptibility gene mutations among patients with early-onset CRC. Design, Setting, and Participants: Overall, 450 patients diagnosed with colorectal cancer younger than 50 years were prospectively accrued from 51 hospitals into the Ohio Colorectal Cancer Prevention Initiative from January 1, 2013, to June 20, 2016...
April 1, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/27812541/muscle-oxidative-phosphorylation-quantitation-using-creatine-chemical-exchange-saturation-transfer-crcest-mri-in-mitochondrial-disorders
#11
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
#12
REVIEW
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...
November 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
#13
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
Objective.:  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...
June 1, 2017: 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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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