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https://www.readbyqxmd.com/read/27910683/publisher-s-note-in-vessel-calibration-of-the-imaging-diagnostics-for-the-real-time-protection-of-the-jet-iter-like-wall-rev-sci-instrum-87-11d430-2016
#1
V Huber, A Huber, D Kinna, I Balboa, S Collins, N Conway, P Drewelow, C F Maggi, G F Matthews, A G Meigs, Ph Mertens, M Price, G Sergienko, S Silburn, A Wynn, K-D Zastrow
No abstract text is available yet for this article.
November 2016: Review of Scientific Instruments
https://www.readbyqxmd.com/read/27910322/in-vessel-calibration-of-the-imaging-diagnostics-for-the-real-time-protection-of-the-jet-iter-like-wall
#2
V Huber, A Huber, D Kinna, I Balboa, S Collins, N Conway, P Drewelow, C F Maggi, G F Matthews, A G Meigs, Ph Mertens, M Price, G Sergienko, S Silburn, A Wynn, K-D Zastrow
The in situ absolute calibration of the JET real-time protection imaging system has been performed for the first time by means of radiometric light source placed inside the JET vessel and operated by remote handling. High accuracy of the calibration is confirmed by cross-validation of the near infrared (NIR) cameras against each other, with thermal IR cameras, and with the beryllium evaporator, which lead to successful protection of the JET first wall during the last campaign. The operation temperature ranges of NIR protection cameras for the materials used on JET are Be 650-1600 °C, W coating 600-1320 °C, and W 650-1500 °C...
November 2016: Review of Scientific Instruments
https://www.readbyqxmd.com/read/27895818/case-of-pseudo-meigs-syndrome-caused-by-gastric-cancer-related-metastatic-ovarian-tumor-with-prolonged-survival
#3
Masaru Okamoto, Kazunori Maeda, Atsushi Yanagitani, Kiwamu Tanaka
A 48-year-old woman presented with bilateral enlarged ovaries, ascites, bilateral pleural effusion, and advanced gastric cancer. Pleural fluid cytology did not reveal malignant cells. Oophorectomy, performed as a palliative procedure, was followed by rapid resolution of the pleural effusion and ascites. The patient was diagnosed with pseudo-Meigs' syndrome, and underwent chemotherapy followed by partial gastrectomy. At the last follow-up, 84 mo following oophorectomy, she was alive, and free of disease recurrence, despite not receiving any further treatment...
November 15, 2016: World Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/27842595/long-term-survival-in-pseudo-meigs-syndrome-caused-by-ovarian-metastases-from-colon-cancer
#4
Yosuke Tajima, Hitoshi Kameyama, Saki Yamada, Ryoma Yagi, Masato Nakano, Masayuki Nagahashi, Yoshifumi Shimada, Jun Sakata, Takashi Kobayashi, Hajime Umezu, Toshifumi Wakai
BACKGROUND: Meigs' syndrome is defined as the co-existence of benign ovarian fibroma or fibroma-like tumor, ascites, and pleural effusion. In contrast, pseudo-Meigs' syndrome is defined as the co-existence of other ovarian or pelvic tumors, ascites, and pleural effusion. In Meigs' and pseudo-Meigs' syndromes, ascites and pleural effusion resolve promptly after the complete resection of the ovarian or pelvic tumor(s). Secondary ovarian tumors from colorectal gastrointestinal metastases rarely cause pseudo-Meigs' syndrome; only 11 cases of pseudo-Meigs' syndrome secondary to colorectal cancers have been reported in the literature...
November 14, 2016: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/27782109/joint-association-analysis-of-a-binary-and-a-quantitative-trait-in-family-samples
#5
Shuai Wang, James B Meigs, Josée Dupuis
In recent years, improved genotyping and sequencing technologies have enabled the discovery of new loci associated with various diseases or traits. For instance, by testing the association with each single-nucleotide variant (SNV) separately, genome-wide association studies (GWAS) have achieved tremendous success in identifying SNVs associated with specific traits. However, little is known about the common genetic basis of multiple traits owing to lack of efficient methods. With the use of extended quasi-likelihood, a Wald test has been proposed to perform a bivariate analysis of a continuous and a binary trait in unrelated samples...
October 26, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27768244/detection-limits-of-quantitative-and-digital-pcr-assays-and-their-influence-in-presence-absence-surveys-of-environmental-dna
#6
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
https://www.readbyqxmd.com/read/27758721/-ascites-pleural-effusion-and-a-benign-ovarian-tumour-the-triad-of-meigs-syndrome
#7
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
https://www.readbyqxmd.com/read/27734419/pseudo-meigs-syndrome-due-to-ovarian-metastases-from-colon-cancer-a-case-report-and-review-of-the-literature
#8
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
https://www.readbyqxmd.com/read/27703118/two-new-two-dimensional-coordination-polymers-based-on-isophthalate-and-a-flexible-n-donor-ligand-containing-benzimidazole-and-pyridine-rings-synthesis-crystal-structures-and-a-solid-state-uv-vis-study
#9
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
https://www.readbyqxmd.com/read/27627971/marked-improvement-of-meige-syndrome-in-a-japanese-male-patient-with-schizophrenia-after-switching-from-risperidone-to-paliperidone-a-case-report
#10
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
https://www.readbyqxmd.com/read/27625022/peripheral-blood-transcriptomic-signatures-of-fasting-glucose-and-insulin-concentrations
#11
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
https://www.readbyqxmd.com/read/27609367/plasma-levels-of-fatty-acid-binding-protein-4-retinol-binding-protein-4-high-molecular-weight-adiponectin-and-cardiovascular-mortality-among-men-with-type-2-diabetes-a-22-year-prospective-study
#12
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...
November 2016: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/27606026/a-tropical-menace-of-co-infection-of-japanese-encephalitis-and-neurocysticercosis-in-two-children
#13
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
https://www.readbyqxmd.com/read/27579935/woman-experiencing-gynecologic-surgery-coping-with-the-changes-imposed-by-surgery
#14
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
https://www.readbyqxmd.com/read/27497699/overexpression-of-tropomyosin-receptor-kinase-a-improves-the-survival-and-schwann-like-cell-differentiation-of-bone-marrow-stromal-cells-in-nerve-grafts-for-bridging-rat-sciatic-nerve-defects
#15
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
https://www.readbyqxmd.com/read/27465892/long-term-pelvic-floor-function-and-quality-of-life-after-radical-surgery-for-cervical-cancer-a-multicenter-comparison-between-different-techniques-for-radical-hysterectomy-with-pelvic-lymphadenectomy
#16
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
https://www.readbyqxmd.com/read/27435952/open-source-lims-in-vietnam-the-path-toward-sustainability-and-host-country-ownership
#17
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
https://www.readbyqxmd.com/read/27416945/genome-wide-association-study-of-the-modified-stumvoll-insulin-sensitivity-index-identifies-bcl2-and-fam19a2-as-novel-insulin-sensitivity-loci
#18
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
https://www.readbyqxmd.com/read/27398621/the-genetic-architecture-of-type-2-diabetes
#19
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
https://www.readbyqxmd.com/read/27366341/systemic-lupus-erythematosus-presenting-with-massive-ascites-a-case-of-pseudo-pseudo-meigs-syndrome
#20
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
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