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https://www.readbyqxmd.com/read/29902448/postponing-early-intrauterine-transfusion-with-intravenous-immunoglobulin-treatment-the-petit-study-on-severe-hemolytic-disease-of-the-fetus-and-newborn
#1
Carolien Zwiers, Johanna G van der Bom, Inge L van Kamp, Nan Van Geloven, Enrico Lopriore, John Smoleniec, Roland Devlieger, Pauline E Sim, Marie Anne Ledingham, Eleonor Tiblad, Kenneth J Moise, Karl-Philip Gloning, Mark D Kilby, Timothy G Overton, Ditte S Jørgensen, Katrine V Schou, Bettina Paek, Martin Walker, Emma Parry, Dick Oepkes, Masja de Haas
BACKGROUND: Intrauterine transfusion for severe alloimmunization in pregnancy performed before 20 weeks' gestation is associated with a higher fetal death rate. Intravenous immunoglobulins may prevent hemolysis and could therefore be a non-invasive alternative for early transfusions. OBJECTIVE(S): We evaluated whether maternal treatment with intravenous immunoglobulins defers the development of severe fetal anemia and its consequences in a retrospective cohort to which 12 fetal therapy centers contributed...
June 11, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29885144/childhood-risk-factors-for-heavy-episodic-alcohol-use-and-alcohol-problems-in-late-adolescence-a-marginal-structural-model-analysis
#2
Kenneth S Kendler, Charles O Gardner, Alexis C Edwards, Danielle M Dick, Matt Hickman, John Macleod, Jon Heron
OBJECTIVE: This study seeks to clarify the nature of the association between five well-studied late childhood predictors and alcohol-related behaviors in adolescence. METHOD: We examined, in 7,168 subjects from the Avon Longitudinal Study of Parents and Children (ALSPAC), using linear probability and marginal structural models, the association between parental alcohol problems, peer group deviance, antisocial behavior, and low parental monitoring, and sensation seeking assessed at multiple times from ages 12...
May 2018: Journal of Studies on Alcohol and Drugs
https://www.readbyqxmd.com/read/29870277/reliability-and-validity-of-an-internalizing-symptom-scale-based-on-the-adolescent-and-adult-semi-structured-assessment-for-the-genetics-of-alcoholism-ssaga
#3
Laura Acion, John Kramer, Xiangtao Liu, Grace Chan, Douglas Langbehn, Kathleen Bucholz, Vivia McCutcheon, Victor Hesselbrock, Marc Schuckit, Danielle Dick, Michie Hesselbrock, Samuel Kuperman
BACKGROUND: The Semi-Structured Assessment for the Genetics of Alcoholism (SSAGA) is an interview that assesses psychiatric symptoms and diagnoses, including substance use disorders and anxiety and mood (i.e., internalizing) disorders. Although the SSAGA is widely used, there exists no overall internalizing characteristics scale based on items drawn from SSAGA's mood and anxiety disorder sections. OBJECTIVES: To design and assess a SSAGA-based measurement instrument capturing the overall internalizing dimension that underlies more specific internalizing conditions...
June 5, 2018: American Journal of Drug and Alcohol Abuse
https://www.readbyqxmd.com/read/29844566/study-of-300-486-individuals-identifies-148-independent-genetic-loci-influencing-general-cognitive-function
#4
Gail Davies, Max Lam, Sarah E Harris, Joey W Trampush, Michelle Luciano, W David Hill, Saskia P Hagenaars, Stuart J Ritchie, Riccardo E Marioni, Chloe Fawns-Ritchie, David C M Liewald, Judith A Okely, Ari V Ahola-Olli, Catriona L K Barnes, Lars Bertram, Joshua C Bis, Katherine E Burdick, Andrea Christoforou, Pamela DeRosse, Srdjan Djurovic, Thomas Espeseth, Stella Giakoumaki, Sudheer Giddaluru, Daniel E Gustavson, Caroline Hayward, Edith Hofer, M Arfan Ikram, Robert Karlsson, Emma Knowles, Jari Lahti, Markus Leber, Shuo Li, Karen A Mather, Ingrid Melle, Derek Morris, Christopher Oldmeadow, Teemu Palviainen, Antony Payton, Raha Pazoki, Katja Petrovic, Chandra A Reynolds, Muralidharan Sargurupremraj, Markus Scholz, Jennifer A Smith, Albert V Smith, Natalie Terzikhan, Anbupalam Thalamuthu, Stella Trompet, Sven J van der Lee, Erin B Ware, B Gwen Windham, Margaret J Wright, Jingyun Yang, Jin Yu, David Ames, Najaf Amin, Philippe Amouyel, Ole A Andreassen, Nicola J Armstrong, Amelia A Assareh, John R Attia, Deborah Attix, Dimitrios Avramopoulos, David A Bennett, Anne C Böhmer, Patricia A Boyle, Henry Brodaty, Harry Campbell, Tyrone D Cannon, Elizabeth T Cirulli, Eliza Congdon, Emily Drabant Conley, Janie Corley, Simon R Cox, Anders M Dale, Abbas Dehghan, Danielle Dick, Dwight Dickinson, Johan G Eriksson, Evangelos Evangelou, Jessica D Faul, Ian Ford, Nelson A Freimer, He Gao, Ina Giegling, Nathan A Gillespie, Scott D Gordon, Rebecca F Gottesman, Michael E Griswold, Vilmundur Gudnason, Tamara B Harris, Annette M Hartmann, Alex Hatzimanolis, Gerardo Heiss, Elizabeth G Holliday, Peter K Joshi, Mika Kähönen, Sharon L R Kardia, Ida Karlsson, Luca Kleineidam, David S Knopman, Nicole A Kochan, Bettina Konte, John B Kwok, Stephanie Le Hellard, Teresa Lee, Terho Lehtimäki, Shu-Chen Li, Tian Liu, Marisa Koini, Edythe London, Will T Longstreth, Oscar L Lopez, Anu Loukola, Tobias Luck, Astri J Lundervold, Anders Lundquist, Leo-Pekka Lyytikäinen, Nicholas G Martin, Grant W Montgomery, Alison D Murray, Anna C Need, Raymond Noordam, Lars Nyberg, William Ollier, Goran Papenberg, Alison Pattie, Ozren Polasek, Russell A Poldrack, Bruce M Psaty, Simone Reppermund, Steffi G Riedel-Heller, Richard J Rose, Jerome I Rotter, Panos Roussos, Suvi P Rovio, Yasaman Saba, Fred W Sabb, Perminder S Sachdev, Claudia L Satizabal, Matthias Schmid, Rodney J Scott, Matthew A Scult, Jeannette Simino, P Eline Slagboom, Nikolaos Smyrnis, Aïcha Soumaré, Nikos C Stefanis, David J Stott, Richard E Straub, Kjetil Sundet, Adele M Taylor, Kent D Taylor, Ioanna Tzoulaki, Christophe Tzourio, André Uitterlinden, Veronique Vitart, Aristotle N Voineskos, Jaakko Kaprio, Michael Wagner, Holger Wagner, Leonie Weinhold, K Hoyan Wen, Elisabeth Widen, Qiong Yang, Wei Zhao, Hieab H H Adams, Dan E Arking, Robert M Bilder, Panos Bitsios, Eric Boerwinkle, Ornit Chiba-Falek, Aiden Corvin, Philip L De Jager, Stéphanie Debette, Gary Donohoe, Paul Elliott, Annette L Fitzpatrick, Michael Gill, David C Glahn, Sara Hägg, Narelle K Hansell, Ahmad R Hariri, M Kamran Ikram, J Wouter Jukema, Eero Vuoksimaa, Matthew C Keller, William S Kremen, Lenore Launer, Ulman Lindenberger, Aarno Palotie, Nancy L Pedersen, Neil Pendleton, David J Porteous, Katri Räikkönen, Olli T Raitakari, Alfredo Ramirez, Ivar Reinvang, Igor Rudan, Dan Rujescu, Reinhold Schmidt, Helena Schmidt, Peter W Schofield, Peter R Schofield, John M Starr, Vidar M Steen, Julian N Trollor, Steven T Turner, Cornelia M Van Duijn, Arno Villringer, Daniel R Weinberger, David R Weir, James F Wilson, Anil Malhotra, Andrew M McIntosh, Catharine R Gale, Sudha Seshadri, Thomas H Mosley, Jan Bressler, Todd Lencz, Ian J Deary
General cognitive function is a prominent and relatively stable human trait that is associated with many important life outcomes. We combine cognitive and genetic data from the CHARGE and COGENT consortia, and UK Biobank (total N = 300,486; age 16-102) and find 148 genome-wide significant independent loci (P < 5 × 10-8 ) associated with general cognitive function. Within the novel genetic loci are variants associated with neurodegenerative and neurodevelopmental disorders, physical and psychiatric illnesses, and brain structure...
May 29, 2018: Nature Communications
https://www.readbyqxmd.com/read/29793546/distinct-patterns-of-brain-atrophy-in-genetic-frontotemporal-dementia-initiative-genfi-cohort-revealed-by-visual-rating-scales
#5
Giorgio G Fumagalli, Paola Basilico, Andrea Arighi, Martina Bocchetta, Katrina M Dick, David M Cash, Sophie Harding, Matteo Mercurio, Chiara Fenoglio, Anna M Pietroboni, Laura Ghezzi, John van Swieten, Barbara Borroni, Alexandre de Mendonça, Mario Masellis, Maria C Tartaglia, James B Rowe, Caroline Graff, Fabrizio Tagliavini, Giovanni B Frisoni, Robert Laforce, Elizabeth Finger, Sandro Sorbi, Elio Scarpini, Jonathan D Rohrer, Daniela Galimberti
BACKGROUND: In patients with frontotemporal dementia, it has been shown that brain atrophy occurs earliest in the anterior cingulate, insula and frontal lobes. We used visual rating scales to investigate whether identifying atrophy in these areas may be helpful in distinguishing symptomatic patients carrying different causal mutations in the microtubule-associated protein tau (MAPT), progranulin (GRN) and chromosome 9 open reading frame (C9ORF72) genes. We also analysed asymptomatic carriers to see whether it was possible to visually identify brain atrophy before the appearance of symptoms...
May 24, 2018: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/29769714/author-correction-a-myc-enhancer-cluster-regulates-normal-and-leukaemic-haematopoietic-stem-cell-hierarchies
#6
Carsten Bahr, Lisa von Paleske, Veli V Uslu, Silvia Remeseiro, Naoya Takayama, Stanley W Ng, Alex Murison, Katja Langenfeld, Massimo Petretich, Roberta Scognamiglio, Petra Zeisberger, Amelie S Benk, Ido Amit, Peter W Zandstra, Mathieu Lupien, John E Dick, Andreas Trumpp, François Spitz
In the originally published version of this Letter, ref. 43 was erroneously provided twice. In the 'Estimation of relative cell-type-specific composition of AML samples' section in the Methods, the citation to ref. 43 after the GEO dataset GSE24759 is correct. However, in the 'Mice' section of the Methods, the citation to ref. 43 after 'TAMERE' should have been associated with a new reference1. The original Letter has been corrected online (with the new reference included as ref. 49).
May 16, 2018: Nature
https://www.readbyqxmd.com/read/29761121/poly-gp-neurofilament-and-grey-matter-deficits-in-c9orf72-expansion-carriers
#7
Lieke H H Meeter, Tania F Gendron, Ana C Sias, Lize C Jiskoot, Silvia P Russo, Laura Donker Kaat, Janne M Papma, Jessica L Panman, Emma L van der Ende, Elise G Dopper, Sanne Franzen, Caroline Graff, Adam L Boxer, Howard J Rosen, Raquel Sanchez-Valle, Daniela Galimberti, Yolande A L Pijnenburg, Luisa Benussi, Roberta Ghidoni, Barbara Borroni, Robert Laforce, Marta Del Campo, Charlotte E Teunissen, Rick van Minkelen, Julio C Rojas, Giovanni Coppola, Dan H Geschwind, Rosa Rademakers, Anna M Karydas, Linn Öijerstedt, Elio Scarpini, Giuliano Binetti, Alessandro Padovani, David M Cash, Katrina M Dick, Martina Bocchetta, Bruce L Miller, Jonathan D Rohrer, Leonard Petrucelli, John C van Swieten, Suzee E Lee
Objective: To evaluate poly(GP), a dipeptide repeat protein, and neurofilament light chain (NfL) as biomarkers in presymptomatic C9orf72 repeat expansion carriers and patients with C9orf72- associated frontotemporal dementia. Additionally, to investigate the relationship of poly(GP) with indicators of neurodegeneration as measured by NfL and grey matter volume. Methods: We measured poly(GP) and NfL levels in cerebrospinal fluid (CSF) from 25 presymptomatic C9orf72 expansion carriers, 64 symptomatic expansion carriers with dementia, and 12 noncarriers...
May 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29690278/remarkable-fly-diptera-diversity-in-a-patch-of-costa-rican-cloud-forest-why-inventory-is-a-vital-science
#8
Art Borkent, Brian V Brown, Peter H Adler, Dalton de Souza Amorim, Kevin Barber, Daniel Bickel, Stephanie Boucher, Scott E Brooks, John Burger, Z L Burington, Renato S Capellari, Daniel N R Costa, Jeffrey M Cumming, Greg Curler, Carl W Dick, J H Epler, Eric Fisher, Stephen D Gaimari, Jon Gelhaus, David A Grimaldi, John Hash, Martin Hauser, Heikki Hippa, Sergio IbÁÑez-Bernal, Mathias Jaschhof, Elena P Kameneva, Peter H Kerr, Valery Korneyev, Cheslavo A Korytkowski, Giar-Ann Kung, Gunnar Mikalsen Kvifte, Owen Lonsdale, Stephen A Marshall, Wayne N Mathis, Verner Michelsen, Stefan Naglis, Allen L Norrbom, Steven Paiero, Thomas Pape, Alessandre Pereira-Colavite, Marc Pollet, Sabrina Rochefort, Alessandra Rung, Justin B Runyon, Jade Savage, Vera C Silva, Bradley J Sinclair, Jeffrey H Skevington, John O Iii Stireman, John Swann, Pekka Vilkamaa, Terry Wheeler, Terry Whitworth, Maria Wong, D Monty Wood, Norman Woodley, Tiffany Yau, Thomas J Zavortink, Manuel A Zumbado
Study of all flies (Diptera) collected for one year from a four-hectare (150 x 266 meter) patch of cloud forest at 1,600 meters above sea level at Zurquí de Moravia, San José Province, Costa Rica (hereafter referred to as Zurquí), revealed an astounding 4,332 species. This amounts to more than half the number of named species of flies for all of Central America. Specimens were collected with two Malaise traps running continuously and with a wide array of supplementary collecting methods for three days of each month...
March 27, 2018: Zootaxa
https://www.readbyqxmd.com/read/29680205/comparative-risk-of-major-congenital-malformations-with-eight-different-antiepileptic-drugs-a-prospective-cohort-study-of-the-eurap-registry
#9
Torbjörn Tomson, Dina Battino, Erminio Bonizzoni, John Craig, Dick Lindhout, Emilio Perucca, Anne Sabers, Sanjeev V Thomas, Frank Vajda
BACKGROUND: Evidence for the comparative teratogenic risk of antiepileptic drugs is insufficient, particularly in relation to the dosage used. Therefore, we aimed to compare the occurrence of major congenital malformations following prenatal exposure to the eight most commonly used antiepileptic drugs in monotherapy. METHODS: We did a longitudinal, prospective cohort study based on the EURAP international registry. We included data from pregnancies in women who were exposed to antiepileptic drug monotherapy at conception, prospectively identified from 42 countries contributing to EURAP...
June 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29656754/malignant-cells-from-pleural-fluids-in-malignant-mesothelioma-patients-reveal-novel-mutations
#10
Sophie Sneddon, Ian Dick, Y C Gary Lee, A W Bill Musk, Ann-Marie Patch, John V Pearson, Nicola Waddell, Richard J N Allcock, Robert A Holt, Bruce W S Robinson, Jenette Creaney
OBJECTIVES: Malignant mesothelioma (MM) is an asbestos related tumour affecting cells of serosal cavities. More than 70% of MM patients develop pleural effusions which contain tumour cells, representing a readily accessible source of malignant cells for genetic analysis. Although common somatic mutations and losses have been identified in solid MM tumours, the characterization of tumour cells within pleural effusions could provide novel insights but is little studied. MATERIALS AND METHODS: DNA and RNA were extracted from cells from short term cultures of 27 human MM pleural effusion samples...
May 2018: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/29604160/baseline-characteristics-and-enrichment-results-from-the-sonar-trial
#11
Hiddo J L Heerspink, Dennis L Andress, George Bakris, John J Brennan, Ricardo Correa-Rotter, Fan Fan Hou, Dalane W Kitzman, Donald Kohan, Hirofumi Makino, John McMurray, Vlado Perkovic, Sheldon Tobe, Melissa Wigderson, Tingting Yi, Hans-Henrik Parving, Dick de Zeeuw
AIM: The SONAR trial uses an enrichment design based on the individual response to the selective endothelin receptor antagonist atrasentan on efficacy (the degree of the individual response in the urinary albumin-to-creatinine ratio [UACR]) and safety/tolerability (signs of sodium retention and acute increases in serum creatinine) to assess the effects of this agent on major renal outcomes. The patient population and enrichment results are described here. METHODS: Patients with type 2 diabetes with an estimated glomerular filtration rate (eGFR) within 25 to 75 mL/min/1...
March 31, 2018: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/29572002/early-contrast-enhancement-a-novel-magnetic-resonance-imaging-biomarker-of-pleural-malignancy
#12
Selina Tsim, Catherine A Humphreys, Gordon W Cowell, David B Stobo, Colin Noble, Rosemary Woodward, Caroline A Kelly, Laura Alexander, John E Foster, Craig Dick, Kevin G Blyth
INTRODUCTION: Pleural Malignancy (PM) is often occult on subjective radiological assessment. We sought to define a novel, semi-objective Magnetic Resonance Imaging (MRI) biomarker of PM, targeted to increased tumour microvessel density (MVD) and applicable to minimal pleural thickening. MATERIALS AND METHODS: 60 consecutive patients with suspected PM underwent contrast-enhanced 3-T MRI then pleural biopsy. In 58/60, parietal pleura signal intensity (SI) was measured in multiple regions of interest (ROI) at multiple time-points, generating ROI SI/time curves and Mean SI gradient (MSIG: SI increment/time)...
April 2018: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/29567793/corneal-transplant-follow-up-study-ii-ctfs-ii-a-prospective-clinical-trial-to-determine-the-influence-of-hla-class-ii-matching-on-corneal-transplant-rejection-baseline-donor-and-recipient-characteristics
#13
W John Armitage, Helen L Winton, Mark N A Jones, Julie M Crewe, Chris A Rogers, Derek M Tole, Andrew D Dick
PURPOSE: To describe a study to determine the influence of HLA class II matching on allograft rejection of high-risk, full-thickness corneal transplants. METHODS: A prospective, longitudinal, clinical trial (ISRCTN25094892) with a primary outcome measure of time to first clinically determined rejection episode. Tissue typing used DNA-based techniques. Corneas were allocated to patients with ≤2 human leucocyte antigen (HLA) class I antigen mismatches by cohort minimisation to achieve 0, 1 or 2 HLA class II (HLA-DR) antigen mismatches...
March 22, 2018: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29505775/autoimmunity-autoinflammation-and-infection-in-uveitis
#14
John V Forrester, Lucia Kuffova, Andrew D Dick
PURPOSE: To review the pathogenesis of uveitis in light of recent advances in our understanding of innate and adaptive immune responses and their regulation. DESIGN: Perspective. METHODS: Methods included a review of prevailing views on the pathogenesis of uveitis and an analysis of developments in immunology that impact on its conceptual basis, particularly the concept of immunologic tolerance and its loss in autoimmunity. Importantly, the role of infection in the pathogenesis of uveitis is evaluated...
May 2018: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29495257/a-fluorescent-cell-based-system-for-imaging-zika-virus-infection-in-real-time
#15
Michael J McFadden, Aaron Mitchell-Dick, Christine Vazquez, Allison E Roder, Kevin F Labagnara, John J McMahon, Debra L Silver, Stacy M Horner
Zika virus (ZIKV) is a re-emerging flavivirus that is transmitted to humans through the bite of an infected mosquito or through sexual contact with an infected partner. ZIKV infection during pregnancy has been associated with numerous fetal abnormalities, including prenatal lethality and microcephaly. However, until recent outbreaks in the Americas, ZIKV has been relatively understudied, and therefore the biology and pathogenesis of ZIKV infection remain incompletely understood. Better methods to study ZIKV infection in live cells could enhance our understanding of the biology of ZIKV and the mechanisms by which ZIKV contributes to fetal abnormalities...
February 24, 2018: Viruses
https://www.readbyqxmd.com/read/29409465/association-of-rs2282679-a-c-polymorphism-in-vitamin-d-binding-protein-gene-with-colorectal-cancer-risk-and-survival-effect-modification-by-dietary-vitamin-d-intake
#16
Yun Zhu, Peizhong Peter Wang, Guangju Zhai, Bharati Bapat, Sevtap Savas, Jennifer R Woodrow, Peter T Campbell, Yuming Li, Ning Yang, Xin Zhou, Elizabeth Dicks, John R Mclaughlin, Patrick S Parfrey
BACKGROUND: The rs2282679 A>C polymorphism in the vitamin D binding protein gene is associated with lower circulating levels of vitamin D. We investigated associations of this SNP with colorectal cancer (CRC) risk and survival and whether the associations vary by dietary vitamin D intake and tumor molecular phenotype. METHODS: A population-based case-control study identified 637 incident CRC cases (including 489 participants with follow-up data on mortality end-points) and 489 matched controls...
February 6, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29408959/a-comparative-analysis-of-phenotypic-predictors-of-mutations-in-familial-hypercholesterolemia
#17
Dick C Chan, Jing Pang, Amanda J Hooper, Damon A Bell, Timothy R Bates, John R Burnett, Gerald F Watts
Context: The gold standard for diagnosing familial hypercholesterolemia (FH) is identification of a causative pathogenic mutation. However, genetic testing is expensive and not widely available. Objective: To compare the validity of the Dutch Lipid Clinic Network (DLCN), Simon Broome (SB), Make Early Diagnosis to Prevent Early Deaths (MEDPED) and American Heart Association (AHA) criteria in predicting an FH-causing mutation. Design, Setting, and Patients: An adult cohort of unrelated patients referred to a lipid clinic for genetic testing...
February 2, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29408229/trends-in-care-processes-and-survival-following-prehospital-resuscitation-improvement-initiatives-for-out-of-hospital-cardiac-arrest-in-british-columbia-2006-2016
#18
Brian Grunau, Takahisa Kawano, William Dick, Ronald Straight, Helen Connolly, Robert Schlamp, Frank X Scheuermeyer, Christopher B Fordyce, David Barbic, John Tallon, Jim Christenson
BACKGROUND: British Columbia (BC) Emergency Health Services implemented a strategy to improve outcomes for out-of-hospital cardiac arrest (OHCA), focusing on paramedic-led high-quality on-scene resuscitation. We measured changes in care metrics and survival trends. METHODS: This was a post-hoc study of prospectively identified consecutive non-traumatic ambulance-treated adult OHCAs from 2006 to 2016 within BC's four metropolitan areas. The primary outcome was survival to hospital discharge; we also described available favourable neurological outcomes (mRS ≤3)...
April 2018: Resuscitation
https://www.readbyqxmd.com/read/29405626/rationale-and-protocol-of-the-study-of-diabetic-nephropathy-with-atrasentan-sonar-trial-a-clinical-trial-design-novel-to-diabetic-nephropathy
#19
Hiddo J L Heerspink, Dennis L Andress, George Bakris, John J Brennan, Ricardo Correa-Rotter, Jyotirmoy Dey, Fan Fan Hou, Dalane W Kitzman, Donald Kohan, Hirofumi Makino, John McMurray, Vlado Perkovic, Sheldon Tobe, Melissa Wigderson, Hans-Henrik Parving, Dick de Zeeuw
AIMS: Individuals with diabetes and chronic kidney disease (CKD) are at high risk for renal events. Recent trials of novel treatments have been negative, possibly because of variability in response to treatment of the target risk factor. Atrasentan is a selective endothelin A receptor antagonist that reduces urinary albumin-to-creatinine ratio (UACR), with a large variability between patients. We are assessing its effect on renal outcomes in the Study Of diabetic Nephropathy with AtRasentan (SONAR; NCT01858532) with an enrichment design (>30% lowering of albuminuria) to select patients most likely to benefit...
February 6, 2018: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/29405378/polygenic-risk-score-prediction-of-alcohol-dependence-symptoms-across-population-based-and-clinically-ascertained-samples
#20
Jeanne E Savage, Jessica E Salvatore, Fazil Aliev, Alexis C Edwards, Matthew Hickman, Kenneth S Kendler, John Macleod, Antti Latvala, Anu Loukola, Jaakko Kaprio, Richard J Rose, Grace Chan, Victor Hesselbrock, Bradley T Webb, Amy Adkins, Tim B Bigdeli, Brien P Riley, Danielle M Dick
BACKGROUND: Despite consistent evidence of the heritability of alcohol use disorders (AUDs), few specific genes with an etiological role have been identified. It is likely that AUDs are highly polygenic; however, the etiological pathways and genetic variants involved may differ between populations. The aim of this study was thus to evaluate whether aggregate genetic risk for AUDs differed between clinically ascertained and population-based epidemiological samples. METHODS: Four independent samples were obtained: 2 from unselected birth cohorts (Avon Longitudinal Study of Parents and Children [ALSPAC], N = 4,304; FinnTwin12 [FT12], N = 1,135) and 2 from families densely affected with AUDs, identified from treatment-seeking patients (Collaborative Study on the Genetics of Alcoholism, N = 2,097; Irish Affected Sib Pair Study of Alcohol Dependence, N = 706)...
March 2018: Alcoholism, Clinical and Experimental Research
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