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Margaret E Hunter, Robert M Dorazio, John S S Butterfield, Gaia Meigs-Friend, Leo G Nico, Jason A Ferrante
A set of universal guidelines is needed to determine the limit of detection (LOD) in PCR-based analyses of low concentration DNA. In particular, environmental DNA (eDNA) studies require sensitive and reliable methods to detect rare and cryptic species through shed genetic material in environmental samples. Current strategies for assessing detection limits of eDNA are either too stringent or subjective, possibly resulting in biased estimates of species' presence. Here, a conservative LOD analysis grounded in analytical chemistry is proposed to correct for overestimated DNA concentrations predominantly caused by the concentration plateau, a nonlinear relationship between expected and measured DNA concentrations...
October 21, 2016: Molecular Ecology Resources
B J Laan, S M van den Heiligenberg, M Hemelaar
BACKGROUND: Classical Meigs' syndrome consists of the triad of an ovarian fibroma, ascites and pleural effusion. A characteristic of the syndrome is that the excess fluid is resorbed after surgical resection of the tumour. CASE DESCRIPTION: A 49-year-old woman was admitted to accident and emergency department in a neglected, cachectic and hypothermic condition. A CT scan revealed an ovarian tumour, ascites and a right-sided pleural effusion. The level of the tumour marker CA-125 was also greatly elevated...
2016: Nederlands Tijdschrift Voor Geneeskunde
Atsushi Yamamoto, Yoshiaki Miyasaka, Kazushige Furuya, Hideki Watanabe, Masahiro Maruyama, Haruka Nakada, Atsushi Takano, Masao Hada, Hiroshi Nakagomi, Masao Omata, Toshio Oyama
We herein experienced a case with pseudo-Meigs' syndrome that developed both synchronous and metachronous metastases to the ovary from ascending colon cancer. A 57-year-old female visited a hospital for a 2-month history of abdominal distension and voiding difficulty. Massive pleural effusion on the right side and a small amount of left-sided pleural effusion were detected on CT. She underwent emergent laparotomy due to the severe symptom of abdominal distention. The tumor originated from the left ovary, and left-sided oophorectomy was performed...
December 2016: Surgical Case Reports
Qi Meige Hasi, Yan Fan, Chen Hou, Xiao Qiang Yao, Jia Cheng Liu
In coordination chemistry and crystal engineering, many factors influence the construction of coordination polymers and the final frameworks depend greatly on the organic ligands used. N-Donor ligands with diverse coordination modes and conformations have been employed to assemble metal-organic frameworks. Carboxylic acid ligands can deprotonate completely or partially when bonding to metal ions and can also act as donors or acceptors of hydrogen bonds and are thus good candidates for the construction of supramolecular architectures...
October 1, 2016: Acta Crystallographica. Section C, Structural Chemistry
Reiji Yoshimura, Hikaru Hori, Asuka Katsuki, Kiyokazu Atake
Meige syndrome is a relatively rare type of oral facial dystonia. The dominant symptoms involve involuntary eye blinking and chin thrusting. Some patients may experience excessive tongue protrusion, squinting, muddled speech, or uncontrollable contraction of the platysma muscle. A 44-year-old Japanese male was suffering from schizophrenia. The initial presentation of his psychosis consisted of auditory hallucinations, delusions of persecution, psychomotor excitement, loosening association, and restlessness...
September 2016: Journal of UOEH
Brian H Chen, Marie-France Hivert, Marjolein J Peters, Luke C Pilling, John D Hogan, Lisa M Pham, Lorna W Harries, Caroline S Fox, Stefania Bandinelli, Abbas Dehghan, Dena G Hernandez, Albert Hofman, Jaeyoung Hong, Roby Joehanes, Andrew D Johnson, Peter J Munson, Denis V Rybin, Andrew B Singleton, André G Uitterlinden, Saixia Ying, Magic Investigators, David Melzer, Daniel Levy, Joyce B J van Meurs, Luigi Ferrucci, Jose C Florez, Josée Dupuis, James B Meigs, Eric D Kolaczyk
Genome-wide association studies (GWAS) have successfully identified genetic loci associated with glycemic traits. However, characterizing the functional significance of these loci has proven challenging. We sought to gain insights into the regulation of fasting insulin and fasting glucose through the use of gene expression microarray data from peripheral blood samples of non-diabetic participants in the Framingham Heart Study (n=5,056), the Rotterdam Study (n=723), and the InCHIANTI Study (n=595). Using a false discovery rate q<0...
September 13, 2016: Diabetes
Gang Liu, Ming Ding, Stephanie E Chiuve, Eric B Rimm, Paul W Franks, James B Meigs, Frank B Hu, Qi Sun
OBJECTIVE: To examine select adipokines, including fatty acid-binding protein 4, retinol-binding protein 4, and high-molecular-weight (HMW) adiponectin in relation to cardiovascular disease (CVD) mortality among patients with type 2 diabetes mellitus. APPROACH AND RESULTS: Plasma levels of fatty acid-binding protein 4, retinol-binding protein 4, and HMW adiponectin were measured in 950 men with type 2 diabetes mellitus in the Health Professionals Follow-up Study...
September 8, 2016: Arteriosclerosis, Thrombosis, and Vascular Biology
Sangeetha Yoganathan, Sniya Valsa Sudhakar, Maya Mary Thomas, Vikas Kapildeo Yadav
Japanese encephalitis (JE) is a mosquito borne encephalitis caused by Flavivirus. Neurocysticercosis (NCC) is a parasitic disease of the central nervous system caused by Taenia solium. In this report, we describe the clinical profile, imaging findings, and outcome of two children with JE and coexisting NCC. Eleven and thirteen-year-old boys from the same town of Jharkhand state were brought with history of fever, seizures, altered sensorium, and extrapyramidal symptoms. Dystonia, hypomimia, bradykinesia, and dyskinesia were observed...
April 2016: Journal of Pediatric Neurosciences
Carolina de Mendonça Coutinho E Silva, Octavio Muniz da Costa Vargens
OBJECTIVES: to describe the feelings and perceptions resulting from gynecologic surgery by women and analyze how they experience the changes caused by the surgery. METHOD: a qualitative, descriptive and exploratory study, which had Symbolic Interactionism and Grounded Theory as its theoretical framework. Participants of the study: 13 women submitted to surgery: Total Abdominal Hysterectomy, Total Abdominal Hysterectomy with bilateral Adnexectomy, Wertheim-Meigs surgery, Oophorectomy, Salpingectomy, Mastectomy, Quadrantectomy and Tracheloplasty...
2016: Revista Latino-americana de Enfermagem
Meige Zheng, Junxiu Duan, Zhendan He, Zhiwei Wang, Shuhua Mu, Zhiwen Zeng, Junle Qu, Jian Zhang, Dong Wang
BACKGROUND AIMS: Bone marrow stromal cells (BMSCs) can differentiate into Schwann-like cells in vivo and effectively promote nerve regeneration and functional recovery as the seed cells for peripheral nerve repair. However, the survival rate and neural differentiation rate of the transplanted BMSCs are very low, which would limit their efficacy. METHODS: In this work, rat BMSCs were infected by recombinant lentiviruses to construct tropomyosin receptor kinase A (TrkA)-overexpressing BMSCs and TrkA-shRNA-expressing BMSCs, which were then used in transplantation for rat sciatic nerve defects...
October 2016: Cytotherapy
Marloes Derks, Jacobus van der Velden, Minke M Frijstein, Willemijn M Vermeer, Anne M Stiggelbout, Jan Paul W R Roovers, Cornelis D de Kroon, Moniek M Ter Kuile, Gemma G Kenter
OBJECTIVE: This study aimed to compare urinary and bowel symptoms and quality of life (QoL) among women treated with a Wertheim-Meigs (WM, type III) or Wertheim-Okabayashi (WO, type IV) radical hysterectomy with pelvic lymphadenectomy for early-stage cervical cancer. METHODS: In this cross-sectional observational study, patients treated with a WO or a (nerve sparing) WM radical hysterectomy (with or without adjuvant radiotherapy) between January 2000 and December 2010 in the Center for Gynaecological Oncology Amsterdam or Leiden University Medical Center were included...
October 2016: International Journal of Gynecological Cancer
Kenneth M Landgraf, Reshma Kakkar, Michelle Meigs, Paul T Jankauskas, Thi Thu Huong Phan, Viet Nga Nguyen, Duy Thai Nguyen, Thanh Tung Duong, Thi Hoa Nguyen, Kyle B Bond
OBJECTIVE: The objectives of this case report are as follows: to describe the process of establishing a national laboratory information management system (LIMS) program for clinical and public health laboratories in Vietnam; to evaluate the outcomes and lessons learned; and to present a model for sustainability based on the program outcomes that could be applied to diverse laboratory programs. METHODS: This case report comprises a review of program documentation and records, including planning and budgetary records of the donor, monthly reports from the implementer, direct observation, and ad-hoc field reports from technical advisors and governmental agencies...
September 2016: International Journal of Medical Informatics
Geoffrey A Walford, Stefan Gustafsson, Denis Rybin, Alena Stančáková, Han Chen, Ching-Ti Liu, Jaeyoung Hong, Richard A Jensen, Ken Rice, Andrew P Morris, Reedik Mägi, Anke Tönjes, Inga Prokopenko, Marcus E Kleber, Graciela Delgado, Günther Silbernagel, Anne U Jackson, Emil V Appel, Niels Grarup, Joshua P Lewis, May E Montasser, Claes Landenvall, Harald Staiger, Jian'an Luan, Timothy M Frayling, Michael N Weedon, Weijia Xie, Sonsoles Morcillo, María Teresa Martínez-Larrad, Mary L Biggs, Yii-Der Ida Chen, Arturo Corbaton-Anchuelo, Kristine Færch, Juan Miguel Gómez-Zumaquero, Mark O Goodarzi, Jorge R Kizer, Heikki A Koistinen, Aaron Leong, Lars Lind, Cecilia Lindgren, Fausto Machicao, Alisa K Manning, Gracia María Martín-Núñez, Gemma Rojo-Martínez, Jerome I Rotter, David S Siscovick, Joseph M Zmuda, Zhongyang Zhang, Manuel Serrano-Rios, Ulf Smith, Federico Soriguer, Torben Hansen, Torben J Jørgensen, Allan Linnenberg, Oluf Pedersen, Mark Walker, Claudia Langenberg, Robert A Scott, Nicholas J Wareham, Andreas Fritsche, Hans-Ulrich Häring, Norbert Stefan, Leif Groop, Jeff R O'Connell, Michael Boehnke, Richard N Bergman, Francis S Collins, Karen L Mohlke, Jaakko Tuomilehto, Winfried März, Peter Kovacs, Michael Stumvoll, Bruce M Psaty, Johanna Kuusisto, Markku Laakso, James B Meigs, Josée Dupuis, Erik Ingelsson, Jose C Florez
Genome-wide association studies (GWAS) have found few common variants that influence fasting measures of insulin sensitivity. We hypothesized that a GWAS of an integrated assessment of fasting and dynamic measures of insulin sensitivity would detect novel common variants. We performed a GWAS of the modified Stumvoll Insulin Sensitivity Index (ISI) within the Meta-Analyses of Glucose and Insulin-Related Traits Consortium. Discovery for genetic association was performed in 16,753 individuals, and replication was attempted for the 23 most significant novel loci in 13,354 independent individuals...
October 2016: Diabetes
Christian Fuchsberger, Jason Flannick, Tanya M Teslovich, Anubha Mahajan, Vineeta Agarwala, Kyle J Gaulton, Clement Ma, Pierre Fontanillas, Loukas Moutsianas, Davis J McCarthy, Manuel A Rivas, John R B Perry, Xueling Sim, Thomas W Blackwell, Neil R Robertson, N William Rayner, Pablo Cingolani, Adam E Locke, Juan Fernandez Tajes, Heather M Highland, Josee Dupuis, Peter S Chines, Cecilia M Lindgren, Christopher Hartl, Anne U Jackson, Han Chen, Jeroen R Huyghe, Martijn van de Bunt, Richard D Pearson, Ashish Kumar, Martina Müller-Nurasyid, Niels Grarup, Heather M Stringham, Eric R Gamazon, Jaehoon Lee, Yuhui Chen, Robert A Scott, Jennifer E Below, Peng Chen, Jinyan Huang, Min Jin Go, Michael L Stitzel, Dorota Pasko, Stephen C J Parker, Tibor V Varga, Todd Green, Nicola L Beer, Aaron G Day-Williams, Teresa Ferreira, Tasha Fingerlin, Momoko Horikoshi, Cheng Hu, Iksoo Huh, Mohammad Kamran Ikram, Bong-Jo Kim, Yongkang Kim, Young Jin Kim, Min-Seok Kwon, Juyoung Lee, Selyeong Lee, Keng-Han Lin, Taylor J Maxwell, Yoshihiko Nagai, Xu Wang, Ryan P Welch, Joon Yoon, Weihua Zhang, Nir Barzilai, Benjamin F Voight, Bok-Ghee Han, Christopher P Jenkinson, Teemu Kuulasmaa, Johanna Kuusisto, Alisa Manning, Maggie C Y Ng, Nicholette D Palmer, Beverley Balkau, Alena Stancáková, Hanna E Abboud, Heiner Boeing, Vilmantas Giedraitis, Dorairaj Prabhakaran, Omri Gottesman, James Scott, Jason Carey, Phoenix Kwan, George Grant, Joshua D Smith, Benjamin M Neale, Shaun Purcell, Adam S Butterworth, Joanna M M Howson, Heung Man Lee, Yingchang Lu, Soo-Heon Kwak, Wei Zhao, John Danesh, Vincent K L Lam, Kyong Soo Park, Danish Saleheen, Wing Yee So, Claudia H T Tam, Uzma Afzal, David Aguilar, Rector Arya, Tin Aung, Edmund Chan, Carmen Navarro, Ching-Yu Cheng, Domenico Palli, Adolfo Correa, Joanne E Curran, Denis Rybin, Vidya S Farook, Sharon P Fowler, Barry I Freedman, Michael Griswold, Daniel Esten Hale, Pamela J Hicks, Chiea-Chuen Khor, Satish Kumar, Benjamin Lehne, Dorothée Thuillier, Wei Yen Lim, Jianjun Liu, Yvonne T van der Schouw, Marie Loh, Solomon K Musani, Sobha Puppala, William R Scott, Loïc Yengo, Sian-Tsung Tan, Herman A Taylor, Farook Thameem, Gregory Wilson, Tien Yin Wong, Pål Rasmus Njølstad, Jonathan C Levy, Massimo Mangino, Lori L Bonnycastle, Thomas Schwarzmayr, João Fadista, Gabriela L Surdulescu, Christian Herder, Christopher J Groves, Thomas Wieland, Jette Bork-Jensen, Ivan Brandslund, Cramer Christensen, Heikki A Koistinen, Alex S F Doney, Leena Kinnunen, Tõnu Esko, Andrew J Farmer, Liisa Hakaste, Dylan Hodgkiss, Jasmina Kravic, Valeriya Lyssenko, Mette Hollensted, Marit E Jørgensen, Torben Jørgensen, Claes Ladenvall, Johanne Marie Justesen, Annemari Käräjämäki, Jennifer Kriebel, Wolfgang Rathmann, Lars Lannfelt, Torsten Lauritzen, Narisu Narisu, Allan Linneberg, Olle Melander, Lili Milani, Matt Neville, Marju Orho-Melander, Lu Qi, Qibin Qi, Michael Roden, Olov Rolandsson, Amy Swift, Anders H Rosengren, Kathleen Stirrups, Andrew R Wood, Evelin Mihailov, Christine Blancher, Mauricio O Carneiro, Jared Maguire, Ryan Poplin, Khalid Shakir, Timothy Fennell, Mark DePristo, Martin Hrabé de Angelis, Panos Deloukas, Anette P Gjesing, Goo Jun, Peter Nilsson, Jacquelyn Murphy, Robert Onofrio, Barbara Thorand, Torben Hansen, Christa Meisinger, Frank B Hu, Bo Isomaa, Fredrik Karpe, Liming Liang, Annette Peters, Cornelia Huth, Stephen P O'Rahilly, Colin N A Palmer, Oluf Pedersen, Rainer Rauramaa, Jaakko Tuomilehto, Veikko Salomaa, Richard M Watanabe, Ann-Christine Syvänen, Richard N Bergman, Dwaipayan Bharadwaj, Erwin P Bottinger, Yoon Shin Cho, Giriraj R Chandak, Juliana C N Chan, Kee Seng Chia, Mark J Daly, Shah B Ebrahim, Claudia Langenberg, Paul Elliott, Kathleen A Jablonski, Donna M Lehman, Weiping Jia, Ronald C W Ma, Toni I Pollin, Manjinder Sandhu, Nikhil Tandon, Philippe Froguel, Inês Barroso, Yik Ying Teo, Eleftheria Zeggini, Ruth J F Loos, Kerrin S Small, Janina S Ried, Ralph A DeFronzo, Harald Grallert, Benjamin Glaser, Andres Metspalu, Nicholas J Wareham, Mark Walker, Eric Banks, Christian Gieger, Erik Ingelsson, Hae Kyung Im, Thomas Illig, Paul W Franks, Gemma Buck, Joseph Trakalo, David Buck, Inga Prokopenko, Reedik Mägi, Lars Lind, Yossi Farjoun, Katharine R Owen, Anna L Gloyn, Konstantin Strauch, Tiinamaija Tuomi, Jaspal Singh Kooner, Jong-Young Lee, Taesung Park, Peter Donnelly, Andrew D Morris, Andrew T Hattersley, Donald W Bowden, Francis S Collins, Gil Atzmon, John C Chambers, Timothy D Spector, Markku Laakso, Tim M Strom, Graeme I Bell, John Blangero, Ravindranath Duggirala, E Shyong Tai, Gilean McVean, Craig L Hanis, James G Wilson, Mark Seielstad, Timothy M Frayling, James B Meigs, Nancy J Cox, Rob Sladek, Eric S Lander, Stacey Gabriel, Noël P Burtt, Karen L Mohlke, Thomas Meitinger, Leif Groop, Goncalo Abecasis, Jose C Florez, Laura J Scott, Andrew P Morris, Hyun Min Kang, Michael Boehnke, David Altshuler, Mark I McCarthy
The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of the heritability of this disease. Here, to test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing in 12,940 individuals from five ancestry groups...
August 4, 2016: Nature
S McVorran, J Song, V Pochineni, A Abrudescu-Opran
The case presented is consistent with the phenomenon known as Pseudo-Pseudo Meigs Syndrome (PPMS). In it, we describe a young woman with newly diagnosed Systemic Lupus Erythematosus presenting with ascites, pleural effusions, and an elevated CA-125 level. Although rare, and of uncertain etiology, PPMS is becoming increasingly recognized in the literature. It should be considered as a differential diagnosis in such patients, along with the search for malignancy.
2016: Case Reports in Rheumatology
Alexander Teumer, Qibin Qi, Maria Nethander, Hugues Aschard, Stefania Bandinelli, Marian Beekman, Sonja I Berndt, Martin Bidlingmaier, Linda Broer, Anne Cappola, Gian Paolo Ceda, Stephen Chanock, Ming-Huei Chen, Tai C Chen, Yii-Der Ida Chen, Jonathan Chung, Fabiola Del Greco Miglianico, Joel Eriksson, Luigi Ferrucci, Nele Friedrich, Carsten Gnewuch, Mark O Goodarzi, Niels Grarup, Tingwei Guo, Elke Hammer, Richard B Hayes, Andrew A Hicks, Albert Hofman, Jeanine J Houwing-Duistermaat, Frank Hu, David J Hunter, Lise L Husemoen, Aaron Isaacs, Kevin B Jacobs, Joop A M J L Janssen, John-Olov Jansson, Nico Jehmlich, Simon Johnson, Anders Juul, Magnus Karlsson, Tuomas O Kilpelainen, Peter Kovacs, Peter Kraft, Chao Li, Allan Linneberg, Yongmei Liu, Ruth J F Loos, Mattias Lorentzon, Yingchang Lu, Marcello Maggio, Reedik Magi, James Meigs, Dan Mellström, Matthias Nauck, Anne B Newman, Michael N Pollak, Peter P Pramstaller, Inga Prokopenko, Bruce M Psaty, Martin Reincke, Eric B Rimm, Jerome I Rotter, Aude Saint Pierre, Claudia Schurmann, Sudha Seshadri, Klara Sjögren, P Eline Slagboom, Howard D Strickler, Michael Stumvoll, Yousin Suh, Qi Sun, Cuilin Zhang, Johan Svensson, Toshiko Tanaka, Archana Tare, Anke Tönjes, Hae-Won Uh, Cornelia M van Duijn, Diana van Heemst, Liesbeth Vandenput, Ramachandran S Vasan, Uwe Völker, Sara M Willems, Claes Ohlsson, Henri Wallaschofski, Robert C Kaplan
The growth hormone/insulin-like growth factor (IGF) axis can be manipulated in animal models to promote longevity, and IGF-related proteins including IGF-I and IGF-binding protein-3 (IGFBP-3) have also been implicated in risk of human diseases including cardiovascular diseases, diabetes, and cancer. Through genomewide association study of up to 30 884 adults of European ancestry from 21 studies, we confirmed and extended the list of previously identified loci associated with circulating IGF-I and IGFBP-3 concentrations (IGF1, IGFBP3, GCKR, TNS3, GHSR, FOXO3, ASXL2, NUBP2/IGFALS, SORCS2, and CELSR2)...
October 2016: Aging Cell
Ching-Ti Liu, Sridharan Raghavan, Nisa Maruthur, Edmond Kato Kabagambe, Jaeyoung Hong, Maggie C Y Ng, Marie-France Hivert, Yingchang Lu, Ping An, Amy R Bentley, Anne M Drolet, Kyle J Gaulton, Xiuqing Guo, Loren L Armstrong, Marguerite R Irvin, Man Li, Leonard Lipovich, Denis V Rybin, Kent D Taylor, Charles Agyemang, Nicholette D Palmer, Brian E Cade, Wei-Min Chen, Marco Dauriz, Joseph A C Delaney, Todd L Edwards, Daniel S Evans, Michele K Evans, Leslie A Lange, Aaron Leong, Jingmin Liu, Yongmei Liu, Uma Nayak, Sanjay R Patel, Bianca C Porneala, Laura J Rasmussen-Torvik, Marieke B Snijder, Sarah C Stallings, Toshiko Tanaka, Lisa R Yanek, Wei Zhao, Diane M Becker, Lawrence F Bielak, Mary L Biggs, Erwin P Bottinger, Donald W Bowden, Guanjie Chen, Adolfo Correa, David J Couper, Dana C Crawford, Mary Cushman, John D Eicher, Myriam Fornage, Nora Franceschini, Yi-Ping Fu, Mark O Goodarzi, Omri Gottesman, Kazuo Hara, Tamara B Harris, Richard A Jensen, Andrew D Johnson, Min A Jhun, Andrew J Karter, Margaux F Keller, Abel N Kho, Jorge R Kizer, Ronald M Krauss, Carl D Langefeld, Xiaohui Li, Jingling Liang, Simin Liu, William L Lowe, Thomas H Mosley, Kari E North, Jennifer A Pacheco, Patricia A Peyser, Alan L Patrick, Kenneth M Rice, Elizabeth Selvin, Mario Sims, Jennifer A Smith, Salman M Tajuddin, Dhananjay Vaidya, Mary P Wren, Jie Yao, Xiaofeng Zhu, Julie T Ziegler, Joseph M Zmuda, Alan B Zonderman, Aeilko H Zwinderman, Adebowale Adeyemo, Eric Boerwinkle, Luigi Ferrucci, M Geoffrey Hayes, Sharon L R Kardia, Iva Miljkovic, James S Pankow, Charles N Rotimi, Michele M Sale, Lynne E Wagenknecht, Donna K Arnett, Yii-Der Ida Chen, Michael A Nalls, Michael A Province, W H Linda Kao, David S Siscovick, Bruce M Psaty, James G Wilson, Ruth J F Loos, Josée Dupuis, Stephen S Rich, Jose C Florez, Jerome I Rotter, Andrew P Morris, James B Meigs
Knowledge of the genetic basis of the type 2 diabetes (T2D)-related quantitative traits fasting glucose (FG) and insulin (FI) in African ancestry (AA) individuals has been limited. In non-diabetic subjects of AA (n = 20,209) and European ancestry (EA; n = 57,292), we performed trans-ethnic (AA+EA) fine-mapping of 54 established EA FG or FI loci with detailed functional annotation, assessed their relevance in AA individuals, and sought previously undescribed loci through trans-ethnic (AA+EA) meta-analysis. We narrowed credible sets of variants driving association signals for 22/54 EA-associated loci; 18/22 credible sets overlapped with active islet-specific enhancers or transcription factor (TF) binding sites, and 21/22 contained at least one TF motif...
July 7, 2016: American Journal of Human Genetics
D A Sánchez-Torres, R Díaz-Murillo, S Kazlauskas, J de Santiago, I Zapardiel
We report the case of a 55-year-old patient who pre- sented a pelvic mass, ascites and elevated serum CA125. Suspecting a malignant process she underwent surgery and a total hysterectomy with bilateral salpigo-oforectomy was performed. Pathologic report revealed a bilateral ovarian fibroma and non-tumoral ascites. The presence of elevated serum CA125 levels in a postmenopausal woman with a pelvic mass and ascites suggest an ovarian malignant disease. However, in case of Meigs'syndrome, all symptoms will diappear after removal of the pelvic tumor, so a fast surgical management of the patients is mandatory...
February 2016: Ginecología y Obstetricia de México
Robert A Scott, Daniel F Freitag, Li Li, Audrey Y Chu, Praveen Surendran, Robin Young, Niels Grarup, Alena Stancáková, Yuning Chen, Tibor V Varga, Hanieh Yaghootkar, Jian'an Luan, Jing Hua Zhao, Sara M Willems, Jennifer Wessel, Shuai Wang, Nisa Maruthur, Kyriaki Michailidou, Ailith Pirie, Sven J van der Lee, Christopher Gillson, Ali Amin Al Olama, Philippe Amouyel, Larraitz Arriola, Dominique Arveiler, Iciar Aviles-Olmos, Beverley Balkau, Aurelio Barricarte, Inês Barroso, Sara Benlloch Garcia, Joshua C Bis, Stefan Blankenberg, Michael Boehnke, Heiner Boeing, Eric Boerwinkle, Ingrid B Borecki, Jette Bork-Jensen, Sarah Bowden, Carlos Caldas, Muriel Caslake, L Adrienne Cupples, Carlos Cruchaga, Jacek Czajkowski, Marcel den Hoed, Janet A Dunn, Helena M Earl, Georg B Ehret, Ele Ferrannini, Jean Ferrieres, Thomas Foltynie, Ian Ford, Nita G Forouhi, Francesco Gianfagna, Carlos Gonzalez, Sara Grioni, Louise Hiller, Jan-Håkan Jansson, Marit E Jørgensen, J Wouter Jukema, Rudolf Kaaks, Frank Kee, Nicola D Kerrison, Timothy J Key, Jukka Kontto, Zsofia Kote-Jarai, Aldi T Kraja, Kari Kuulasmaa, Johanna Kuusisto, Allan Linneberg, Chunyu Liu, Gaëlle Marenne, Karen L Mohlke, Andrew P Morris, Kenneth Muir, Martina Müller-Nurasyid, Patricia B Munroe, Carmen Navarro, Sune F Nielsen, Peter M Nilsson, Børge G Nordestgaard, Chris J Packard, Domenico Palli, Salvatore Panico, Gina M Peloso, Markus Perola, Annette Peters, Christopher J Poole, J Ramón Quirós, Olov Rolandsson, Carlotta Sacerdote, Veikko Salomaa, María-José Sánchez, Naveed Sattar, Stephen J Sharp, Rebecca Sims, Nadia Slimani, Jennifer A Smith, Deborah J Thompson, Stella Trompet, Rosario Tumino, Daphne L van der A, Yvonne T van der Schouw, Jarmo Virtamo, Mark Walker, Klaudia Walter, Jean E Abraham, Laufey T Amundadottir, Jennifer L Aponte, Adam S Butterworth, Josée Dupuis, Douglas F Easton, Rosalind A Eeles, Jeanette Erdmann, Paul W Franks, Timothy M Frayling, Torben Hansen, Joanna M M Howson, Torben Jørgensen, Jaspal Kooner, Markku Laakso, Claudia Langenberg, Mark I McCarthy, James S Pankow, Oluf Pedersen, Elio Riboli, Jerome I Rotter, Danish Saleheen, Nilesh J Samani, Heribert Schunkert, Peter Vollenweider, Stephen O'Rahilly, Panos Deloukas, John Danesh, Mark O Goodarzi, Sekar Kathiresan, James B Meigs, Margaret G Ehm, Nicholas J Wareham, Dawn M Waterworth
Regulatory authorities have indicated that new drugs to treat type 2 diabetes (T2D) should not be associated with an unacceptable increase in cardiovascular risk. Human genetics may be able to guide development of antidiabetic therapies by predicting cardiovascular and other health endpoints. We therefore investigated the association of variants in six genes that encode drug targets for obesity or T2D with a range of metabolic traits in up to 11,806 individuals by targeted exome sequencing and follow-up in 39,979 individuals by targeted genotyping, with additional in silico follow-up in consortia...
June 1, 2016: Science Translational Medicine
Chuanhua Xing, Janice M McCarthy, Josée Dupuis, L Adrienne Cupples, James B Meigs, Xihong Lin, Andrew S Allen
The case-control study is a common design for assessing the association between genetic exposures and a disease phenotype. Though association with a given (case-control) phenotype is always of primary interest, there is often considerable interest in assessing relationships between genetic exposures and other (secondary) phenotypes. However, the case-control sample represents a biased sample from the general population. As a result, if this sampling framework is not correctly taken into account, analyses estimating the effect of exposures on secondary phenotypes can be biased leading to incorrect inference...
October 15, 2016: Statistics in Medicine
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