Minerva Access

The placenta is the villain or victim in the pathogenesis of pre-eclampsia

Sun, 25 Oct 2020 00:00:00 GMT

Murthi, P; Brennecke, SP 2020-10-25 The placenta is the villain or victim in the pathogenesis of pre-eclampsia Journal Article

Opportunities for improving hypertensive disorders of pregnancy (HDP) management in primary care settings: A review of international published guidelines in the context of pregnancy care in Indonesia

Wed, 01 Jan 2020 00:00:00 GMT

Ekawati, FM; Emilia, O; Brennecke, S; Gunn, J; Licqurish, S; Lau, P 2020-01-01 Opportunities for improving hypertensive disorders of pregnancy (HDP) management in primary care settings: A review of international published guidelines in the context of pregnancy care in Indonesia Almost all of global maternal mortality caused by HDP occurs in low to middle-income countries (LMIC). However, limited guidance is available to local primary care practitioners who are usually the main health care providers. This review examined existing international practice guidelines to identify potential practices to improve HDP management in Indonesian primary care settings. We performed structured literature search strategies and snowballing searches in six databases (MEDLINE, Web of Science, EMBASE, CINAHL, Cochrane reviews and Google Scholar) for guidelines that were published between 2007 and 2018 using relevant keywords and phrases of ‘guidelines’, ‘hypertensive disorders of pregnancy’ or ‘preeclampsia’ and ‘primary care’. The AGREE II instrument was used to assess quality and reporting of the eligible guidelines. Thematic analysis was performed on all of the guidelines and the results were discussed among the project investigators. Sixteen international practice guidelines or similar management recommendations were reviewed. Almost all of them were partially applicable, with some managements potentially able to be adopted to Indonesian primary care settings. Three main themes for improving HDP management were identified, namely clinical management, care planning, and professional communication. These potential improvements in managing women with HDP in Indonesia may also be relevant in other LMIC. Further contextualisation is required to facilitate their adoption in practice settings. Journal Article

The addition of fetal scalp blood lactate measurement as an adjunct to cardiotocography to reduce caesarean sections during labour: The Flamingo randomised controlled trial

Tue, 23 Mar 2021 00:00:00 GMT

East, CE; Davey, M-A; Kamlin, COF; Davis, PG; Sheehan, PM; Kane, SC; Brennecke, SP 2021-03-23 The addition of fetal scalp blood lactate measurement as an adjunct to cardiotocography to reduce caesarean sections during labour: The Flamingo randomised controlled trial BACKGROUND: Fetal scalp blood sampling for lactate measurement (FBSLM) is sometimes used to assist in identification of the need for expedited birth in the presence of an abnormal cardiotocograph (CTG). However, there is no randomised controlled trial evidence to support this. AIM: To determine whether adding FBSLM reduces the risk of birth by emergency caesarean section in labours complicated by an abnormal CTG, compared with CTG without FBS. MATERIAL AND METHODS: Labouring women at a tertiary maternity hospital in Melbourne, Australia with a singleton, cephalic presentation, at ≥37 weeks gestation with an abnormal CTG pattern were randomised to the intervention (n = 61), with intermittent FBSLM in addition to CTG monitoring, or control (CTG without FBS, n = 62). The primary outcome was rate of birth by caesarean section. Secondary outcomes included overall operative birth and fetal and neonatal safety endpoints. TRIAL REGISTRATION: ACTRN12611000172909. RESULTS: The smaller than anticipated sample was unable to demonstrate an effect from adding FBSLM to CTG monitoring on birth by caesarean section vs monitoring by CTG without FBS (25/61 and 28/62 respectively, P = 0.64, risk ratio 0.91, 95% confidence intervals 0.60-1.36). One newborn infant in the CTG group met the criteria for the composite neonatal outcome of death or serious outcome, neonatal encephalopathy, five-minute Apgar score < 4, neonatal resuscitation, admission to neonatal intensive care unit for 96 h or more. CONCLUSION: We were unable to provide robust evidence of the effectiveness of FBSLM to improve the specificity of the CTG in the assessment of fetal wellbeing. Journal Article

Prediction of preterm pre-eclampsia at midpregnancy using a multivariable screening algorithm

Mon, 02 Mar 2020 00:00:00 GMT

Black, C; Rolnik, DL; Al-Amin, A; Kane, SC; Stolarek, C; White, A; Da Silva Costa, F; Brennecke, S 2020-03-02 Prediction of preterm pre-eclampsia at midpregnancy using a multivariable screening algorithm BACKGROUND: Competing risk models used for midpregnancy prediction of preterm pre-eclampsia have shown detection rates (DR) of 85%, at fixed false-positive rate (FPR) of 10%. The full algorithm used between 19+0 and 24+6 weeks includes maternal factors, mean arterial pressure (MAP), mean uterine artery pulsatility index (UtAPI), serum placental growth factor (PlGF) level in multiples of the median (MoM), and soluble Fms-like tyrosine kinase-1 (sFlt-1) level in MoM. AIMS: To assess performance of the Fetal Medicine Foundation (FMF) algorithm at midpregnancy to screen for preterm (<37 weeks) pre-eclampsia. The outcome measured was preterm pre-eclampsia. MATERIALS AND METHODS: This is a prospective study including singleton pregnancies at 19-22 weeks gestation. Maternal bloods were collected and analysed using three different immunoassay platforms. Maternal characteristics, medical history, MAP, mean UtAPI, serum PlGF MoM and serum sFlt-1 MoM were used for risk assessment. DR and FPR were calculated, and receiver operating characteristic curves produced. RESULTS: Five hundred and twelve patients were included. Incidence of preterm pre-eclampsia was 1.6%. Using predicted risk of pre-eclampsia of one in 60 or more and one in 100 or higher, as given by the FMF predictive algorithm, the combination with the best predictive performance for preterm pre-eclampsia included maternal factors, MAP, UtAPI and PlGF MoM, giving DRs of 100% and 100%, respectively, and FPRs of 9.3 for all platforms and 12.9-13.5, respectively. Addition of sFlt-1 to the algorithm did not appear to improve performance. sFlt-1 MoM and PlGF MoM values obtained on the different platforms performed very similarly. CONCLUSIONS: Second trimester combined screening for preterm pre-eclampsia by maternal history, MAP, mean UtAPI and PlGF MoM using the FMF algorithm performed very well in this patient population. Journal Article

New Insights into the Nature and Role of Potassium Channels in Regulating Uterine Contraction in Human Labour.

Sun, 01 Mar 2020 00:00:00 GMT

Siriwardhana, R; Tonta, MA; Sheehan, PM; Coleman, HA; Brennecke, SP; Parkington, HC 2020-03-01 New Insights into the Nature and Role of Potassium Channels in Regulating Uterine Contraction in Human Labour. Conference Paper

NO placental inflammation

Mon, 18 May 2020 00:00:00 GMT

Parkington, HC; Sheehan, PM; Coleman, HA; Brennecke, SP 2020-05-18 NO placental inflammation Journal Article

Hypertensive disorders of pregnancy (HDP) management pathways: results of a Delphi survey to contextualise international recommendations for Indonesian primary care settings.

Thu, 01 Apr 2021 00:00:00 GMT

Ekawati, FM; Licqurish, S; Gunn, J; Brennecke, S; Lau, P 2021-04-01 Hypertensive disorders of pregnancy (HDP) management pathways: results of a Delphi survey to contextualise international recommendations for Indonesian primary care settings. BACKGROUND: Hypertensive disorders of pregnancy (HDP) are a significant contributor to the high maternal mortality rate in Indonesia. At the moment, limited guidelines are available to assist primary care providers in managing HDP cases. A previous review of 16 international HDP guidelines has identified opportunities for improving HDP management in Indonesian primary care, but it has not determined the suitability of the recommendations in practice. This study aims to achieve consensus among the experts regarding the recommendations suitability and to develop HDP pathways in Indonesian primary care. METHODS: Maternal health experts, including GPs, midwives, nurses, medical specialists and health policy researchers from Indonesia and overseas were recruited for the study. They participated in a consensus development process that applied a mix of quantitative and qualitative questions in three Delphi survey rounds. At the first and second-round survey, the participants were asked to rate their agreement on whether each of 125 statements about HDP and HDP management is appropriate for use in Indonesian primary care settings. The third-round survey presented the drafts of HDP pathways and sought participants' agreement and further suggestions. The participants' agreement scores were calculated with a statement needing a minimum of 70% agreement to be included in the HDP pathways. The participants' responses and suggestions to the free text questions were analysed thematically. RESULTS: A total of 52 participants were included, with 48, 45 and 37 of them completing the first, second and third round of the survey respectively. Consensus was reached for 115 of the 125 statements on HDP definition, screening, management and long-term follow-up. Agreement scores for the statements ranged from 70.8-100.0%, and potential implementation barriers of the pathways were identified. Drafts of HDP management pathways were also agreed upon and received suggestions from the participants. CONCLUSIONS: Most evidence-based management recommendations achieved consensus and were included in the developed HDP management pathways, which can potentially be implemented in Indonesian settings. Further investigations are needed to explore the acceptability and feasibility of the developed HDP pathways in primary care practice. Journal Article

Transcriptional and epi-transcriptional dynamics of SARS-CoV-2 during cellular infection

Thu, 01 Apr 2021 00:00:00 GMT

Chang, JJ-Y; Rawlinson, D; Pitt, ME; Taiaroa, G; Gleeson, J; Zhou, C; Mordant, FL; De Paoli-Iseppi, R; Caly, L; Purcell, DFJ; Stinear, TP; Londrigan, SL; Clark, MB; Williamson, DA; Subbarao, K; Coin, LJM 2021-04 Transcriptional and epi-transcriptional dynamics of SARS-CoV-2 during cellular infection Journal Article

The long and the short of it: unlocking nanopore long-read RNA sequencing data with short-read differential expression analysis tools.

Tue, 01 Jun 2021 00:00:00 GMT

Dong, X; Tian, L; Gouil, Q; Kariyawasam, H; Su, S; De Paoli-Iseppi, R; Prawer, YDJ; Clark, MB; Breslin, K; Iminitoff, M; Blewitt, ME; Law, CW; Ritchie, ME 2021-06 The long and the short of it: unlocking nanopore long-read RNA sequencing data with short-read differential expression analysis tools. Application of Oxford Nanopore Technologies' long-read sequencing platform to transcriptomic analysis is increasing in popularity. However, such analysis can be challenging due to the high sequence error and small library sizes, which decreases quantification accuracy and reduces power for statistical testing. Here, we report the analysis of two nanopore RNA-seq datasets with the goal of obtaining gene- and isoform-level differential expression information. A dataset of synthetic, spliced, spike-in RNAs ('sequins') as well as a mouse neural stem cell dataset from samples with a null mutation of the epigenetic regulator Smchd1 was analysed using a mix of long-read specific tools for preprocessing together with established short-read RNA-seq methods for downstream analysis. We used limma-voom to perform differential gene expression analysis, and the novel FLAMES pipeline to perform isoform identification and quantification, followed by DRIMSeq and limma-diffSplice (with stageR) to perform differential transcript usage analysis. We compared results from the sequins dataset to the ground truth, and results of the mouse dataset to a previous short-read study on equivalent samples. Overall, our work shows that transcriptomic analysis of long-read nanopore data using long-read specific preprocessing methods together with short-read differential expression methods and software that are already in wide use can yield meaningful results. Journal Article

Poor Birth Outcomes in Malaria in Pregnancy: Recent Insights Into Mechanisms and Prevention Approaches

Mon, 15 Mar 2021 00:00:00 GMT

Chua, CLL; Hasang, W; Rogerson, SJ; Teo, A 2021-03-15 Poor Birth Outcomes in Malaria in Pregnancy: Recent Insights Into Mechanisms and Prevention Approaches Pregnant women in malaria-endemic regions are susceptible to malaria in pregnancy, which has adverse consequences on birth outcomes, including having small for gestational age and preterm babies. These babies are likely to have low birthweights, which predisposes to infant mortality and lifelong morbidities. During malaria in pregnancy, Plasmodium falciparum-infected erythrocytes express a unique variant surface antigen, VAR2CSA, that mediates sequestration in the placenta. This process may initiate a range of host responses that contribute to placental inflammation and dysregulated placental development, which affects placental vasculogenesis, angiogenesis and nutrient transport. Collectively, these result in the impairment of placental functions, affecting fetal development. In this review, we provide an overview of malaria in pregnancy and the different pathological pathways leading to malaria in pregnancy-associated low birthweight. We also discuss current prevention and management strategies for malaria in pregnancy, and some potential therapeutic interventions that may improve birth outcomes. Lastly, we outline some priorities for future research that could bring us one step closer to reducing this health burden. Journal Article

8th IAS Conference on HIV Pathogenesis, Treatment and Prevention (IAS 2015).

Thu, 01 Jan 2015 00:00:00 GMT

Pate, KM; Pohlmeyer, C; Walker-Sperling, V; Foote, J; Najarro, K; Cryer, C; Salgado, M; Gama, L; Engle, E; Shirk, E; Queen, S; Chioma, S; Vermillion, M; Bullock, B; Li, M; Lyons, C; Adams, R; Zink, C; Clements, J; Mankowski, J; Blankson, J; Micci, L; Ryan, E; Fromentin, R; Benne, C; Chomont, N; Lifson, J; Paiardini, M; Lee, S; Chomont, N; Fromentin, R; Silicano, R; Silicano, J; Richman, D; O'Doherty, U; Palmer, S; Burbelo, P; Deeks, S; Ghneim, K; Ahlers, J; Fourati, S; Shive, C; Cameron, M; Mukerjee, P; Ghannoum, M; Rodriguez, B; Deeks, S; Lederman, M; Sekaly, R; Frange, P; Faye, A; Avettand-Fenoel, V; Bellaton, E; Deschamps, D; Angin, M; Caillat-Zucman, S; Peytavin, G; Le Chenadec, J; Warszawski, J; Rouzioux, C; Saez-Cirion, A; Chang, C; Cameron, P; Elliott, J; Perelson, A; Roche, M; Dantanarayana, A; Solomon, A; Naranbhai, V; Tenakoon, S; Hoh, R; McMahon, J; Sikaris, K; Hartogensis, W; Bacchetti, P; Hecht, F; Lifson, J; Deeks, S; Lewin, S; Byrareddy, S; Arthos, J; Cicala, C; Reimann, K; Parslow, T; Santangelo, P; Villinger, F; Fauci, A; Ansari, A; George, M; Weiser, B; Burger, H; Lewy, T; Anastos, K; Asmuth, D; Somsouk, M; Hunt, P; Min, Z; Miller, C; Li, XD; Hinkle, J; Shaw, A; Weaver, E; Klein, G; Viljoen, K; Wendoh, J; Karaoz, U; Brodie, E; Mulder, N; Botha, G; Kidzeru, E; Butcher, J; Gray, C; Rosenthal, K; Abimiku, A; Cameron, B; Stintzi, A; Jaspan, H; Schafer, J; Evans, T; Li, H; Reeves, RK; Kroon, M; Dunning, L; Hsiao, M; Myer, L; Crowell, CS; Maiga, AI; Sylla, M; Taiwo, B; Koné, N; Murphy, RL; Marcelin, A-G; Traore, B; Fofana, DB; Chadwick, EG; Ásbjörnsdóttir, KH; Slyker, JA; Wamalwa, D; De Rosa, S; Hughes, JP; Rowhani-Rahbar, A; Chohan, BH; Benki-Nugent, S; Tapia, K; John-Stewart, GC; Kizito, H; Gaur, A; Prasitsuebsai, W; Rakhmanina, N; Chokephaibulkit, K; Fourie, J; Bekker, L-G; Shao, Y; Bennett, S; Quirk, E; Prasitsuebsai, W; Teeraananchai, S; Truong, KH; Ananworanich, J; Chau, V; Van Nguyen, L; Kosalaraksa; Kurniati, N; Sudjaritruk, T; Chokephaibulkit, K; Singtoroj, T; Kerr, SJ; Sohn, AH; Lombaard, J; Bunupuradah, T; Flynn, P; Ramapuram, J; Ssali, F; Crauwels, H; Hoogstoel, A; Van Eygen, V; Stevens, M; Boven, K; Jao, J; Myer, L; Phillips, T; Petro, G; Zerbe, A; Abrams, EJ; Hanrahan, C; Martinson, N; Link-Barnes, G; Msandiwa, R; Chaisson, R; Golub, J; Evans, DH; Schnippel, K; Budgell, E; Shearer, K; Berhanu, R; Long, L; Rosen, S; Schultze, A; Efsen, AMW; Post, FA; Panteleev, A; Furrer, H; Miller, R; Losso, MH; Toibaro, J; Skrahin, A; Miro, JM; Caylà, JA; Girardi, E; Bruyand, M; Obel, N; Podlekareva, DN; Lundgren, JD; Mocroft, A; Kirk, O; Baddeley, A; Doherty, M; Kanchar, A; Matteelli, A; Timimi, HB; Getahun, H; Hosseinipour, M; Bisson, G; Miyahara, S; Sun, X; Moses, A; Riviere, C; Kirui, FK; Badal-Faesen, S; Lagat, D; Nyirenda, M; Naidoo, K; Hakim, J; Mugyenyi, P; Henostroza, G; Leger, PD; Lama, JR; Mohapi, L; Alave, J; Mave, V; Veloso, VG; Pillay, S; Kumarasamy, N; Bao, J; Hogg, E; Jones, L; Zolopa, A; Kumwenda, J; Gupta, A; Cohen, M; Chen, Y; McCauley, M; Gamble, T; Hosseinipour, M; Kumarasamy, N; Hakim, J; Kumwenda, N; Brum, T; Grinsztejn, B; Godbole, S; Chariyalertsak, S; Santos, RB; Mayer, K; Hoffman, I; Eshleman, S; Piwowar-Manning, E; Ou, S-S; Cottle, L; Makhema, J; Mills, L; Panchia, R; Badal-Faesen, S; Eron, J; Gallant, J; Havlir, D; Swindells, S; Elharrar, V; Burns, D; Taha, T; Nielsen, K; Celentano, D; Essex, M; Fleming, T; Jean, K; Puren, A; Cutler, E; Singh, B; Bouscaillou, J; Rain-Taljaard, R; Taljjard, D; Lissouba, P; Peytavin, G; Auvert, B; Jenkins, L; Nordio, J; Vasarhelyi, K; Nunez, A; Barrios, R; Rutherford, A; Iwuji, C; Dray-Spira, R; Calmy, A; Larmarange, J; Orne-Gliemann, J; Dabis, F; Pillay, D; Porter, K; Barnabas, R; van Rooyen, H; Tumwesigye, E; Brantley, J; Baeten, J; van Heerden, A; Turyamureeba, B; Joseph, P; Krows, M; Hughes, J; Celum, C; Eshleman, SH; Hudelson, SE; Ou, SS; Redd, AD; Swanstrom, R; Porcella, SF; Chen, YQ; Piwowar-Manning, E; McCauley, M; Gamble, T; Sievers, M; Martens, CA; Bruno, D; Ping, L-H; Dukhovlinova, E; Quinn, TC; Kumwenda, J; Maliwichi, M; Nhando, N; Akelo, V; Moyo, S; Panchia, R; Kumarasamy, N; Chotirosniramit, N; Rocha, MM; Bustorff, F; Grinsztejn, B; Mayer, KH; Hughes, JP; Cohen, MS; Haas, AD; Tenthani, L; Msukwa, MT; Jahn, A; Midiani, D; Mhango, E; Gadabu, O; Tal, K; Spörri, A; Egger, M; Chimbwandira, F; van Oosterhout, JJ; Keiser, O; Rosenberg, N; Mtande, T; Saidi, F; Stanley, C; Jere, E; Mwangomba, L; Kumwenda, K; Mofolo, I; Mwale, M; Chauma, A; Miller, WC; Hoffman, I; Hosseinipour, MC; Buzdugan, R; McCoy, SI; Watadzaushe, C; Dufour, M-SK; Petersen, M; Dirawo, J; Mushavi, A; Mujuru, HA; Mahomva, A; Engelsmann, B; Hakobyan, A; Mugurungi, O; Cowan, FM; Padian, NS; Lallemant, M; Amzal, B; Urien, S; Sripan, P; Cressey, T; Ngo-Giang-Huong, N; Rawangban, B; Sabsanong, P; Siriwachirachai, T; Jarupanich, T; Kanjanavikai, P; Wanasiri, P; Koetsawang, S; Jourdain, G; Le Cœur, S; Ochoa-Moreno, I; Mangenah, C; Buzdugan, R; Padian, NS; Mccoy, SI; Cowan, FM; Bautista-Arredondo, S; Wambura, M; Hayes, R; Grund, J; Kapiga, S; Mahler, H; Mshana, G; Kuringe, E; Plotkin, M; Bock, N; Larke, N; Changalucha, J; Weiss, H; Thirumurthy, H; Akello, I; Murray, K; Masters, S; Maman, S; Omanga, E; Agot, K; Duwve, J; Hoover, K; Conrad, C; Galang, R; Hillman, D; Hoots, B; Patel, M; Peters, P; Pontones, P; Roseberry, J; Shields, J; Waterhouse, D; Weidle, P; Galang, RR; Gentry, J; Peters, PJ; Blosser, SJ; Chapman, EL; Conrad, C; Duwve, JM; Ganova-Raeva, L; Heneine, W; Hillman, D; Jia, H; Liu, L; Luo, W; Lovchik, J; Masciotra, S; Owen, SM; Perez, A; Peyrani, P; Pontones, P; Ramachandran, S; Roseberry, JC; Sandoval, M; Shankar, A; Thai, H; Xia, G; Khudyakov, Y; Switzer, WM; Mannheimer, S; Hirsch-Moverman, Y; Loquere, A; Franks, J; Hughes, J; Ou, S-S; Amico, KR; Hendrix, C; Dye, BJ; Piwowar-Manning, E; Marzinke, M; Elharrar, V; Stirratt, M; Grant, RM; Holtz, TH; Chitwarakorn, A; Curlin, ME; Hughes, J; Amico, KR; Hendrix, C; Dye, BJ; Anderson, PL; Ou, S-S; Elharrar, V; Eshleman, SH; Stirratt, M; Grant, RM; Doherty, M; Beusenberg, M; Asamoah-Odei, E; Lule, F; Pendse, R; Ghidinelli, M; Lo, Y-R; Reidner, G; Donoghoe, M; Vitoria, M; Hirnschall, G; Levi, J; Raymond, A; Pozniak, A; Vernazza, P; Kohler, P; Ford, N; Hill, A; Wolff, M; Cortes, CP; Shepherd, BE; Giganti, M; Gowan, CM; Rawat, A; Uebel, KE; Moore, D; Yassi, A; Wilkinson, L; Harley, B; Jacobs, S; Cragg, C; Kriel, E; Solomon, S; Peton, N; Jennings, K; Youngleson, M; Grimsrud, A; Joy, J; Liang, R; McCloskey, R; Nguyen, T; Brumme, C; Colley, G; Hogg, R; Montaner, J; Harrigan, PR; Poon, A; Klein, K; Ratcliff, A; Nickel, G; Nankya, I; Lobritz, M; Gao, Y; Shattock, R; Arts, E; Kinloch, NN; Macmillan, DR; Le, AQ; Cotton, LA; Mccloskey, R; Bangsberg, DR; Buchbinder, S; Carrington, M; Fuchs, J; Harrigan, PR; Koblin, B; Markowitz, M; Mayer, K; Milloy, MJ; Schechter, MT; Wagner, T; Walker, BD; Carlson, JM; Poon, AFY; Brumme, ZL; Mesplède, T; Anstett, K; Osman, N; Hassounah, S; Liang, J; Han, Y; Wainberg, M; Demeulemeester, J; Vets, S; Schrijvers, R; Madlala, P; De Maeyer, M; De Rijck, J; Ndung'u, T; Debyser, Z; Gijsbers, R; Prentice, H; Tomaras, G; Geraghty, D; Apps, R; Fong, Y; Ehrenberg, P; Rolland, M; Kijak, G; Nelson, W; Decamp, A; Shen, X; Yates, N; Zolla-Pazner, S; Nitayaphan, S; Rerks-Ngarm, S; Pitisuttithum, P; Ferrari, G; Montefiori, D; McElrath, J; Bailer, R; Koup, R; O'Connell, R; Robb, M; Michael, N; Kim, J; Thomas, R; Peterson, C; Wang, J; Polacino, P; Holmes, M; Hu, S-L; Gregory, P; Kiem, H-P; Kaminski, R; Hu, W; Zhang, Y; Karn, J; Khalili, K; Chew, G; Fujita, T; Clayton, K; Ishii, N; Abdel-Mohsen, M; Liegler, T; Hecht, F; Ostrowski, M; Shikuma, C; Maurer, M; Korman, A; Deeks, S; Ndhlovu, L; Karn, J; Das, B; Dobrowolski, C; Scully, E; Deeks, S; Gandhi, M; Johnston, R; Bunupuradah, T; Kiertiburanakul, S; Avihingsanon, A; Chetchotisakd, P; Techapornroong, M; Leerattanapetch, N; Kantipong, P; Bowonwatanuwong, C; Banchongkit, S; Klinbuayaem, V; Mekviwattanawan, S; Nimitvilai, S; Jirajariyavej, S; Prasithsirikul, W; 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Journal Article

Enteric pathogen infection and consequences for child growth in young Aboriginal Australian children: a cross-sectional study

Wed, 06 Jan 2021 00:00:00 GMT

Hanieh, S; Mahanty, S; Gurruwiwi, G; Kearns, T; Dhurrkay, R; Gondarra, V; Shield, J; Ryan, N; Azzato, F; Ballard, SA; Orlando, N; Nicholson, S; Gibney, K; Brimblecombe, J; Page, W; Harrison, LC; Biggs, B-A 2021-01-06 Enteric pathogen infection and consequences for child growth in young Aboriginal Australian children: a cross-sectional study BACKGROUND: To determine the prevalence of enteric infections in Aboriginal children aged 0-2 years using conventional and molecular diagnostic techniques and to explore associations between the presence of pathogens and child growth. METHODS: Cross-sectional analysis of Aboriginal children (n = 62) residing in a remote community in Northern Australia, conducted from July 24th - October 30th 2017. Stool samples were analysed for organisms by microscopy (directly in the field and following fixation and storage in sodium-acetate formalin), and by qualitative PCR for viruses, bacteria and parasites and serology for Strongyloides-specific IgG. Child growth (height and weight) was measured and z scores calculated according to WHO growth standards. RESULTS: Nearly 60% of children had evidence for at least one enteric pathogen in their stool (37/62). The highest burden of infection was with adenovirus/sapovirus (22.9%), followed by astrovirus (9.8%) and Cryptosporidium hominis/parvum (8.2%). Non-pathogenic organisms were detected in 22.5% of children. Ten percent of children had diarrhea at the time of stool collection. Infection with two or more pathogens was negatively associated with height for age z scores (- 1.34, 95% CI - 2.61 to - 0.07), as was carriage of the non-pathogen Blastocystis hominis (- 2.05, 95% CI - 3.55 to - 0.54). CONCLUSIONS: Infants and toddlers living in this remote Northern Australian Aboriginal community had a high burden of enteric pathogens and non-pathogens. The association between carriage of pathogens/non-pathogens with impaired child growth in the critical first 1000 days of life has implications for healthy child growth and development and warrants further investigation. These findings have relevance for many other First Nations Communities that face many of the same challenges with regard to poverty, infections, and malnutrition. Journal Article

36th International Symposium on Intensive Care and Emergency Medicine : Brussels, Belgium. 15-18 March 2016.

Wed, 20 Apr 2016 00:00:00 GMT

Bateman, RM; Sharpe, MD; Jagger, JE; Ellis, CG; Solé-Violán, J; López-Rodríguez, M; Herrera-Ramos, E; Ruíz-Hernández, J; Borderías, L; Horcajada, J; González-Quevedo, N; Rajas, O; Briones, M; Rodríguez de Castro, F; Rodríguez Gallego, C; Esen, F; Orhun, G; Ergin Ozcan, P; Senturk, E; Ugur Yilmaz, C; Orhan, N; Arican, N; Kaya, M; Kucukerden, M; Giris, M; Akcan, U; Bilgic Gazioglu, S; Tuzun, E; Riff, R; Naamani, O; Douvdevani, A; Takegawa, R; Yoshida, H; Hirose, T; Yamamoto, N; Hagiya, H; Ojima, M; Akeda, Y; Tasaki, O; Tomono, K; Shimazu, T; Ono, S; Kubo, T; Suda, S; Ueno, T; Ikeda, T; Hirose, T; Ogura, H; Takahashi, H; Ojima, M; Kang, J; Nakamura, Y; Kojima, T; Shimazu, T; Ikeda, T; Suda, S; Izutani, Y; Ueno, T; Ono, S; Taniguchi, T; O, M; Dinter, C; Lotz, J; Eilers, B; Wissmann, C; Lott, R; Meili, MM; Schuetz, PS; Hawa, H; Sharshir, M; Aburageila, M; Salahuddin, N; Chantziara, V; Georgiou, S; Tsimogianni, A; Alexandropoulos, P; Vassi, A; Lagiou, F; Valta, M; Micha, G; Chinou, E; Michaloudis, G; Kodaira, A; Ikeda, T; Ono, S; Ueno, T; Suda, S; Izutani, Y; Imaizumi, H; De la Torre-Prados, MV; Garcia-De la Torre, A; Enguix-Armada, A; Puerto-Morlan, A; Perez-Valero, V; Garcia-Alcantara, A; Bolton, N; Dudziak, J; Bonney, S; Tridente, A; Nee, P; Nicolaes, G; Wiewel, M; Schultz, M; Wildhagen, K; Horn, J; Schrijver, R; Van der Poll, T; Reutelingsperger, C; Pillai, S; Davies, G; Mills, G; Aubrey, R; Morris, K; Williams, P; Evans, P; Gayat, EG; Struck, J; Cariou, A; Deye, N; Guidet, B; Jabert, S; Launay, J; Legrand, M; Léone, M; Resche-Rigon, M; Vicaut, E; Vieillard-Baron, A; Mebazaa, A; Arnold, R; Capan, M; Linder, A; Akesson, P; Popescu, M; Tomescu, D; Sprung, CL; Calderon Morales, R; Munteanu, G; Orenbuch-Harroch, E; Levin, P; Kasdan, H; Reiter, A; Volker, T; Himmel, Y; Cohen, Y; Meissonnier, J; Girard, L; Rebeaud, F; Herrmann, I; Delwarde, B; Peronnet, E; Cerrato, E; Venet, F; Lepape, A; Rimmelé, T; Monneret, G; Textoris, J; Beloborodova, N; Moroz, V; Osipov, A; Bedova, A; Sarshor, Y; Pautova, A; Sergeev, A; Chernevskaya, E; Odermatt, J; Bolliger, R; Hersberger, L; Ottiger, M; Christ-Crain, M; Mueller, B; Schuetz, P; Sharma, NK; Tashima, AK; Brunialti, MK; Machado, FR; Assuncao, M; Rigato, O; Salomao, R; Cajander, SC; Rasmussen, G; Tina, E; Söderquist, B; Källman, J; Strålin, K; Lange, AL; Sundén-Cullberg, JS; Magnuson, AM; Hultgren, OH; Davies, G; Pillai, S; Mills, G; Aubrey, R; Morris, K; Williams, P; Evans, P; Pillai, S; Davies, G; Mills, G; Aubrey, R; Morris, K; Williams, P; Evans, P; Pillai, S; Davies, G; Mills, G; Aubrey, R; Morris, K; Williams, P; Evans, P; Van der Geest, P; Mohseni, M; Linssen, J; De Jonge, R; Duran, S; Groeneveld, J; Miller, R; Lopansri, BK; McHugh, LC; Seldon, A; Burke, JP; Johnston, J; Reece-Anthony, R; Bond, A; Molokhia, A; Mcgrath, C; Nsutebu, E; Bank Pedersen, P; Pilsgaard Henriksen, D; Mikkelsen, S; Touborg Lassen, A; Tincu, R; Cobilinschi, C; Tomescu, D; Ghiorghiu, Z; Macovei, R; Wiewel, MA; Harmon, MB; Van Vught, LA; Scicluna, BP; Hoogendijk, AJ; Horn, J; Zwinderman, AH; Cremer, OL; Bonten, MJ; Schultz, MJ; Van der Poll, T; Juffermans, NP; Wiersinga, WJ; Eren, G; Tekdos, Y; Dogan, M; Acicbe, O; Kaya, E; Hergunsel, O; Alsolamy, S; Ghamdi, G; Alswaidan, L; Alharbi, S; Alenezi, F; Arabi, Y; Heaton, J; Boyce, A; Nolan, L; Johnston, J; Dukoff-Gordon, A; Dean, A; Molokhia, A; Mann Ben Yehudah, T; Fleischmann, C; Thomas-Rueddel, D; Haas, C; Dennler, U; Reinhart, K; Suntornlohanakul, O; Khwannimit, B; Breckenridge, F; Puxty, A; Szturz, P; Folwarzcny, P; Svancara, J; Kula, R; Sevcik, P; Caneva, L; Casazza, A; Bellazzi, E; Marra, S; Pagani, L; Vetere, M; Vanzino, R; Ciprandi, D; Preda, R; Boschi, R; Carnevale, L; Lopez, V; Aguilar Arzapalo, M; Barradas, L; Escalante, A; Gongora, J; Cetina, M; Adamik, B; Jakubczyk, D; Kübler, A; Radford, A; Lee, T; Singer, J; Boyd, J; Fineberg, D; Williams, M; Russell, J; Scarlatescu, E; Tomescu, D; Droc, G; Arama, S; Müller, M; Straat, M; Zeerleder, SS; Juffermans, NP; Fuchs, CF; Scheer, CS; Wauschkuhn, SW; Vollmer, MV; Meissner, KM; Kuhn, SK; Hahnenkamp, KH; Rehberg, SR; Gründling, MG; Yamamoto, N; Ojima, M; Hamaguchi, S; Hirose, T; Akeda, Y; Takegawa, R; Tasaki, O; Shimazu, T; Tomono, K; Gómez-Sánchez, E; Heredia-Rodríguez, M; Álvarez-Fuente, E; Lorenzo-López, M; Gómez-Pesquera, E; Aragón-Camino, M; Liu-Zhu, P; Sánchez-López, A; Hernández-Lozano, A; Peláez-Jareño, MT; Tamayo, E; Thomas-Rüddel, DO; Fleischmann, C; Haas, C; Dennler, U; Reinhart, K; Adora, V; Kar, A; Chakraborty, A; Roy, S; Bandyopadhyay, A; Das, M; Mann Ben Yehudah, T; BenYehudah, G; Salim, M; Kumar, N; Arabi, L; Burger, T; Lephart, P; Toth-martin, E; Valencia, C; Hammami, N; Blot, S; Vincent, JL; Lambert, ML; Brunke, J; Riemann, T; Roschke, I; Tincu, R; Cobilinschi, C; Tomescu, D; Ghiorghiu, Z; Macovei, R; Nimitvilai, S; Jintanapramote, K; Jarupongprapa, S; Adukauskiene, D; Valanciene, D; Bose, G; Lostarakos, V; Carr, B; Khedher, S; Maaoui, A; Ezzamouri, A; Salem, M; Chen, J; Cranendonk, DR; Van Vught, LA; Wiewel, MA; Cremer, OL; Horn, J; Bonten, MJ; Schultz, MJ; Van der Poll, T; Wiersinga, WJ; Day, M; Penrice, G; Roy, K; Robertson, P; Godbole, G; Jones, B; Booth, M; Donaldson, L; Kawano, Y; Ishikura, H; Al-Dorzi, H; Almutairi, M; Alhamadi, B; Crizaldo Toledo, A; Khan, R; Al Raiy, B; Arabi, Y; Talaie, H; Van Oers, JA; Harts, A; Nieuwkoop, E; Vos, P; Boussarsar, Y; Boutouta, F; Kamoun, S; Mezghani, I; Koubaji, S; Ben Souissi, A; Riahi, A; Mebazaa, MS; Giamarellos-Bourboulis, E; Tziolos, N; Routsi, C; Katsenos, C; Tsangaris, I; Pneumatikos, I; Vlachogiannis, G; Theodorou, V; Prekates, A; Antypa, E; Koulouras, V; Kapravelos, N; Gogos, C; Antoniadou, E; Mandragos, K; Armaganidis, A; Robles Caballero, AR; Civantos, B; Figueira, JC; López, J; Silva-Pinto, A; Ceia, F; Sarmento, A; Santos, L; Almekhlafi, G; Sakr, Y; Al-Dorzi, H; Khan, R; Baharoon, S; Aldawood, A; Matroud, A; Alchin, J; Al Johani, S; Balkhy, H; Arabi, Y; Alsolamy, S; Yousif, SY; Alotabi, BO; Alsaawi, AS; Ang, J; Curran, MD; Enoch, D; Navapurkar, V; Morris, A; Sharvill, R; Astin, J; Heredia-Rodríguez, M; Gómez-Sánchez, E; Peláez-Jareño, MT; Gómez-Pesquera, E; Lorenzo-López, M; Liu-Zhu, P; Aragón-Camino, M; Hernández-Lozano, A; Sánchez-López, A; Álvarez-Fuente, E; Tamayo, E; Patel, J; Kruger, C; O’Neal, J; Rhodes, H; Jancik, J; François, B; Laterre, PF; Eggimann, P; Torres, A; Sánchez, M; Dequin, PF; Bassi, GL; Chastre, J; Jafri, HS; Ben Romdhane, M; Douira, Z; Kamoun, S; Bousselmi, M; Ben Souissi, A; Boussarsar, Y; Riahi, A; Mebazaa, MS; Vakalos, A; Avramidis, V; Craven, TH; Wojcik, G; Kefala, K; McCoubrey, J; Reilly, J; Paterson, R; Inverarity, D; Laurenson, I; Walsh, TS; Mongodi, S; Bouhemad, B; Orlando, A; Stella, A; Via, G; Iotti, G; Braschi, A; Mojoli, F; Haliloglu, M; Bilgili, B; Kasapoglu, U; Sayan, I; Süzer Aslan, M; Yalcın, A; Cinel, I; Vakalos, A; Avramidis, V; Ellis, HE; Bauchmuller, K; Miller, D; Temple, A; Chastre, J; François, B; Torres, A; Luyt, CE; Sánchez, M; Singer, M; Jafri, HS; Nassar, Y; Ayad, MS; Trifi, A; Abdellatif, S; Daly, F; Nasri, R; Ben Lakhal, S; Bilgili, B; Haliloglu, M; Gul, F; Cinel, I; Kuzovlev, A; Shabanov, A; Polovnikov, S; Moroz, V; Kadrichu, N; Dang, T; Corkery, K; Challoner, P; Bassi, GL; Aguilera, E; Chiurazzi, C; Travierso, C; Motos, A; Fernandez, L; Amaro, R; Senussi, T; Idone, F; Bobi, J; Rigol, M; Torres, A; Hodiamont, CJ; Juffermans, NP; Janssen, JM; Bouman, CS; Mathôt, RA; De Jong, MD; Van Hest, RM; Payne, L; Fraser, GL; Tudor, B; Lahner, M; Roth, G; Krenn, C; Talaie, H; Jault, P; Gabard, J; Leclerc, T; Jennes, S; Que, Y; Rousseau, A; Ravat, F; Al-Dorzi, H; Eissa, A; Al-Harbi, S; Aldabbagh, T; Khan, R; Arabi, Y; Trifi, A; Abdellatif., S; Daly, F; Nasri, R; Ben Lakhal, S; Paramba, F; Purayil, N; Naushad, V; Mohammad, O; Negi, V; Chandra, P; Kleinsasser, A; Witrz, MR; Buchner-Doeven, JF; Tuip-de Boer, AM; Goslings, JC; Juffermans, NP; Van Hezel, M; Straat, M; Boing, A; Van Bruggen, R; Juffermans, N; Markopoulou, D; Venetsanou, K; Kaldis, V; Koutete, D; Chroni, D; Alamanos, I; Koch, L; Jancik, J; Rhodes, H; Walter, E; Maekawa, K; Hayakawa, M; Kushimoto, S; Shiraishi, A; Kato, H; Sasaki, J; Ogura, H; Matauoka, T; Uejima, T; Morimura, N; Ishikura, H; Hagiwara, A; Takeda, M; Tarabrin, O; Shcherbakow, S; Gavrychenko, D; Mazurenko, G; Ivanova, V; Chystikov, O; Plourde, C; Lessard, J; Chauny, J; Daoust, R; Shcherbakow, S; Tarabrin, O; Gavrychenko, D; Mazurenko, G; Chystikov, O; Vakalos, A; Avramidis, V; Kropman, L; In het Panhuis, L; Konings, J; Huskens, D; Schurgers, E; Roest, M; De Laat, B; Lance, M; Durila, M; Lukas, P; Astraverkhava, M; Jonas, J; Budnik, I; Shenkman, B; Hayami, H; Koide, Y; Goto, T; Iqbal, R; Alhamdi, Y; Venugopal, N; Abrams, S; Downey, C; Toh, CH; Welters, ID; Bombay, VB; Chauny, JM; Daoust, RD; Lessard, JL; Marquis, MM; Paquet, JP; Siemens, K; Sangaran, D; Hunt, BJ; Durward, A; Nyman, A; Murdoch, IA; Tibby, SM; Ampatzidou, F; Moisidou, D; Dalampini, E; Nastou, M; Vasilarou, E; Kalaizi, V; Chatzikostenoglou, H; Drossos, G; Spadaro, S; Fogagnolo, A; Fiore, T; Schiavi, A; Fontana, V; Taccone, F; Volta, C; Chochliourou, E; Volakli, E; Violaki, A; Samkinidou, E; Evlavis, G; Panagiotidou, V; Sdougka, M; Mothukuri, R; Battle, C; Guy, K; Mills, G; Evans, P; Wijesuriya, J; Keogh, S; Docherty, A; O’Donnell, R; Brunskill, S; Trivella, M; Doree, C; Holst, L; Parker, M; Gregersen, M; Almeida, J; Walsh, T; Stanworth, S; Moravcova, S; Mansell, J; Rogers, A; Smith, RA; Hamilton-Davies, C; Omar, A; Allam, M; Bilala, O; Kindawi, A; Ewila, H; Ampatzidou, F; Moisidou, D; Nastou, M; Dalampini, E; Malamas, A; Vasilarou, E; Drossos, G; Ferreira, G; Caldas, J; Fukushima, J; Osawa, EA; Arita, E; Camara, L; Zeferino, S; Jardim, J; Gaioto, F; Dallan, L; Jatene, FB; Kalil Filho, R; Galas, F; Hajjar, LA; Mitaka, C; Ohnuma, T; Murayama, T; Kunimoto, F; Nagashima, M; Takei, T; Tomita, M; Omar, A; Mahmoud, K; Hanoura, S; Sudarsanan, S; Sivadasan, P; Othamn, H; Shouman, Y; Singh, R; Al Khulaifi, A; Mandel, I; Mikheev, S; Suhodolo, I; Kiselev, V; Svirko, Y; Podoksenov, Y; Jenkins, SA; Griffin, R; Tovar Doncel, MS; Lima, A; Aldecoa, C; Ince, C; Taha, A; Shafie, A; Mostafa, M; Syed, N; Hon, H; Righetti, F; Colombaroli, E; Castellano, G; Righetti, F; Colombaroli, E; Hravnak, M; Chen, LC; Dubrawski, AD; Clermont, GC; Pinsky, MR; Gonzalez, S; Macias, D; Acosta, J; Jimenez, P; Loza, A; Lesmes, A; Lucena, F; Leon, C; Tovar Doncel, MS; Ince, C; Aldecoa, C; Lima, A; Bastide, M; Richecoeur, J; Frenoy, E; Lemaire, C; Sauneuf, B; Tamion, F; Nseir, S; Du Cheyron, D; Dupont, H; Maizel, J; Shaban, M; Kolko, R; Salahuddin, N; Sharshir, M; AbuRageila, M; AlHussain, A; Mercado, P; Maizel, J; Kontar, L; Titeca, D; Brazier, F; Riviere, A; Joris, M; Soupison, T; De Cagny, B; Slama, M; Wagner, J; Körner, A; Kubik, M; Kluge, S; Reuter, D; Saugel, B; Colombaroli, E; Righetti, F; Castellano, G; Tran, T; De Bels, D; Cudia, A; Strachinaru, M; Ghottignies, P; Devriendt, J; Pierrakos, C; Martínez González, Ó; Blancas, R; Luján, J; Ballesteros, D; Martínez Díaz, C; Núñez, A; Martín Parra, C; López Matamala, B; Alonso Fernández, M; Chana, M; Huber, W; Eckmann, M; Elkmann, F; Gruber, A; Klein, I; Schmid, RM; Lahmer, T; Moller, PW; Sondergaard, S; Jakob, SM; Takala, J; Berger, D; Bastoni, D; Aya, H; Toscani, L; Pigozzi, L; Rhodes, A; Cecconi, M; Ostrowska, C; Aya, H; Abbas, A; Mellinghoff, J; Ryan, C; Dawson, D; Rhodes, A; Cecconi, M; Cronhjort, M; Wall, O; Nyberg, E; Zeng, R; Svensen, C; Mårtensson, J; Joelsson-Alm, E; Aguilar Arzapalo, M; Barradas, L; Lopez, V; Cetina, M; Parenti, N; Palazzi, C; Amidei, LA; Borrelli, FB; Campanale, SC; Tagliazucchi, FT; Sedoni, GS; Lucchesi, DL; Carella, EC; Luciani, AL; Mackovic, M; Maric, N; Bakula, M; Aya, H; Rhodes, A; Grounds, RM; Fletcher, N; Cecconi, M; Avard, B; Zhang, P; Mezidi, M; Charbit, J; Ould-Chikh, M; Deras, P; Maury, C; Martinez, O; Capdevila, X; Hou, P; Linde-Zwirble, WZ; Douglas, ID; Shapiro, NS; Ben Souissi, A; Mezghani, I; Ben Aicha, Y; Kamoun, S; Laribi, B; Jeribi, B; Riahi, A; Mebazaa, MS; Pereira, C; Marinho, R; Antunes, R; Marinho, A; Crivits, M; Raes, M; Decruyenaere, J; Hoste, E; Bagin, V; Rudnov, V; Savitsky, A; Astafyeva, M; Korobko, I; Vein, V; Kampmeier, T; Arnemann, P; Hessler, M; Wald, A; Bockbreder, K; Morelli, A; Van Aken, H; Rehberg, S; Ertmer, C; Arnemann, P; Hessler, M; Kampmeier, T; Rehberg, S; Van Aken, H; Ince, C; Ertmer, C; Reddy, S; Bailey, M; Beasley, R; Bellomo, R; Mackle, D; Psirides, A; Young, P; Reddy, S; Bailey, M; Beasley, R; Bellomo, R; Mackle, D; Young, P; Venkatesh, H; Ramachandran, S; Basu, A; Nair, H; Egan, S; Bates, J; Oliveira, S; Rangel Neto, NR; Reis, FQ; Lee, CP; Lin, XL; Choong, C; Eu, KM; Sim, WY; Tee, KS; Pau, J; Abisheganaden, J; Maas, K; De Geus, H; Lafuente, E; Marinho, R; Moura, J; Antunes, R; Marinho, A; Doris, TE; Monkhouse, D; Shipley, T; Kardasz, S; Gonzalez, I; Stads, S; Groeneveld, AJ; Elsayed, I; Ward, N; Tridente, A; Raithatha, A; Steuber, A; Pelletier, C; Schroeder, S; Michael, E; Slowinski, T; Kindgen-Milles, D; Ghabina, S; Turani, F; Belli, A; Busatti, S; Barettin, G; Candidi, F; Gargano, F; Barchetta, R; Falco, M; Demirkiran, O; Kosuk, M; Bozbay, S; Weber, V; Hartmann, J; Harm, S; Linsberger, I; Eichhorn, T; Valicek, G; Miestinger, G; Hoermann, C; Faenza, S; Ricci, D; Mancini, E; Gemelli, C; Cuoghi, A; Magnani, S; Atti, M; Laddomada, T; Doronzio, A; Balicco, B; Gruda, MC; O’Sullivan, P; Dan, VP; Guliashvili, T; Scheirer, A; Golobish, TD; Capponi, VJ; Chan, PP; Kogelmann, K; Drüner, M; Jarczak, D; Turani, F; Belli, AB; Martni, SM; Cotticelli, VC; Mounajergi, F; Barchetta, R; Morimoto, S; Ishikura, H; Hussain, I; Salahuddin, N; Nadeem, A; Ghorab, K; Maghrabi, K; Kloesel, SK; Goldfuss, C; Stieglitz, A; Stieglitz, AS; Krstevska, L; Albuszies, G; Aguilar Arzapalo, M; Barradas, L; Lopez, V; Escalante, A; Jimmy, G; Cetina, M; Izawa, J; Iwami, T; Uchino, S; Takinami, M; Kitamura, T; Kawamura, T; Powell-Tuck, JG; Crichton, S; Raimundo, M; Camporota, L; Wyncoll, D; Ostermann, M; Hana, A; De Geus, HR; De Geus, HR; Hana, A; Aydogdu, M; Boyaci, N; Yuksel, S; Gursel, G; Cayci Sivri, AB; Meza-Márquez, J; Nava-López, J; Carrillo-Esper, R; Dardashti, A; Grubb, A; Maizel, J; Wetzstein, M; Titeca, D; Kontar, L; Brazier, F; De Cagny, B; Riviere, A; Soupison, T; Joris, M; Slama, M; Peters, E; Njimi, H; Pickkers, P; Vincent, JL; Waraich, M; Doyle, J; Samuels, T; Forni, L; Desai, N; Baumber, R; Gunning, P; Sell, A; Lin, S; Torrence, H; O’Dwyer, M; Kirwan, C; Prowle, J; Kim, T; O’Connor, ME; Hewson, RW; Kirwan, CJ; Pearse, RM; Prowle, J; Hanoura, S; Omar, A; Othamn, H; Sudarsanan, S; Allam, M; Maksoud, M; Singh, R; Al Khulaifi, A; O’Connor, ME; Hewson, RW; Kirwan, CJ; Pearse, RM; Prowle, J; Uzundere, O; Memis, D; Ýnal, M; Gultekin, A; Turan, N; Aydin, MA; Basar, H; Sencan, I; Kapuagasi, A; Ozturk, M; Uzundurukan, Z; Gokmen, D; Ozcan, A; Kaymak, C; Artemenko, VA; Budnyuk, A; Pugh, R; Bhandari, S; Mauri, T; Turrini, C; Langer, T; Taccone, P; Volta, CA; Marenghi, C; Gattinoni, L; Pesenti, A; Sweeney, L; O’Sullivan, A; Kelly, P; Mukeria, E; MacLoughlin, R; Pfeffer, M; Thomas, JT; Bregman, GB; Karp, GK; Kishinevsky, EK; Stavi, DS; Adi, NA; Poropat, T; Knafelj, R; Llopart, E; Batlle, M; De Haro, C; Mesquida, J; Artigas, A; Pavlovic, D; Lewerentz, L; Spassov, A; Schneider, R; De Smet, S; De Raedt, S; Derom, E; Depuydt, P; Oeyen, S; Benoit, D; Decruyenaere, J; Gobatto, A; Besen, B; Tierno, P; Melro, L; Mendes, P; Cadamuro, F; Park, M; Malbouisson, LM; Civantos, BC; Lopez, JL; Robles, A; Figueira, J; Yus, S; Garcia, A; Oglinda, A; Ciobanu, G; Oglinda, C; Schirca, L; Sertinean, T; Lupu, V; Kelly, P; O’Sullivan, A; Sweeney, L; MacLoughlin, R; O’Sullivan, A; Kelly, P; Sweeney, L; Mukeria, E; Wolny, M; MacLoughlin, R; Pagano, A; Numis, F; Visone, G; Saldamarco, L; Russo, T; Porta, G; Paladino, F; Bell, C; Liu, J; Debacker, J; Lee, C; Tamberg, E; Campbell, V; Mehta, S; Silva-Pinto, A; Sarmento, A; Santos, L; Kara, Ý; Yýldýrým, F; Zerman, A; Güllü, Z; Boyacý, N; Basarýk Aydogan, B; Gaygýsýz, Ü; Gönderen, K; Arýk, G; Turkoglu, M; Aydogdu, M; Aygencel, G; 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Jamaer, L; Dubois, J; Medo, V; Galvez, R; Miranda, JP; Stone, C; Wigmore, T; Arunan, Y; Wheeler, A; Bauchmuller, K; Bryden, D; Wong, Y; Poi, C; Gu, C; Molmy, P; Van Grunderbeeck, N; Nigeon, O; Lemyze, M; Thevenin, D; Mallat, J; Ramos, J; Correa, M; Carvalho, RT; Forte, D; Fernandez, A; McBride, C; Koonthalloor, E; Walsh, C; Webber, A; Ashe, M; Smith, K; Jeanrenaud, P; Marudi, A; Baroni, S; Ragusa, F; Bertellini, E; Volakli, EA; Chochliourou, E; Dimitriadou, M; Violaki, A; Mantzafleri, P; Samkinidou, E; Vrani, O; Arbouti, A; Varsami, T; Sdougka, M; Bollen, JA; Van Smaalen, TC; De Jongh, WC; Ten Hoopen, MM; Ysebaert, D; Van Heurn, LW; Van Mook, WN; Sim, K; Fuller, A; Roze des Ordons, A; Couillard, P; Doig, C; Van Keer, RV; Deschepper, RD; Francke, AF; Huyghens, LH; Bilsen, JB; Nyamaizi, B; Dalrymple, C; Molokhia, A; Dobru, A; Marrinan, E; Ankuli, A; Molokhia, A; McPeake, J; Struthers, R; Crawford, R; Devine, H; Mactavish, P; Quasim, T; Morelli, P; Degiovanangelo, M; Lemos, F; MArtinez, V; Verga, F; Cabrera, J; Burghi, G; Rutten, A; Van Ieperen, S; De Geer, S; Van Vugt, M; Der Kinderen, E; Giannini, A; Miccinesi, G; Marchesi, T; Prandi, E 2016-04-20 36th International Symposium on Intensive Care and Emergency Medicine : Brussels, Belgium. 15-18 March 2016. Journal Article

The FLUXNET2015 dataset and the ONEFlux processing pipeline for eddy covariance data (vol 7, 225, 2020)

Thu, 25 Feb 2021 00:00:00 GMT

Pastorello, G; Trotta, C; Canfora, E; Chu, H; Christianson, D; Cheah, Y-W; Poindexter, C; Chen, J; Elbashandy, A; Humphrey, M; Isaac, P; Polidori, D; Reichstein, M; Ribeca, A; van Ingen, C; Vuichard, N; Zhang, L; Amiro, B; Ammann, C; Arain, MA; Ardo, J; Arkebauer, T; Arndt, SK; Arriga, N; Aubinet, M; Aurela, M; Baldocchi, D; Barr, A; Beamesderfer, E; Marchesini, LB; Bergeron, O; Beringer, J; Bernhofer, C; Berveiller, D; Billesbach, D; Black, TA; Blanken, PD; Bohrer, G; Boike, J; Bolstad, PV; Bonal, D; Bonnefond, J-M; Bowling, DR; Bracho, R; Brodeur, J; Brummer, C; Buchmann, N; Burban, B; Burns, SP; Buysse, P; Cale, P; Cavagna, M; Cellier, P; Chen, S; Chini, I; Christensen, TR; Cleverly, J; Collalti, A; Consalvo, C; Cook, BD; Cook, D; Coursolle, C; Cremonese, E; Curtis, PS; D'Andrea, E; da Rocha, H; Dai, X; Davis, KJ; De Cinti, B; de Grandcourt, A; De Ligne, A; De Oliveira, RC; Delpierre, N; Desai, AR; Di Bella, CM; di Tommasi, P; Dolman, H; Domingo, F; Dong, G; Dore, S; Duce, P; Dufrene, E; Dunn, A; Dusek, J; Eamus, D; Eichelmann, U; ElKhidir, HAM; Eugster, W; Ewenz, CM; Ewers, B; Famulari, D; Fares, S; Feigenwinter, I; Feitz, A; Fensholt, R; Filippa, G; Fischer, M; Frank, J; Galvagno, M; Gharun, M; Gianelle, D; Gielen, B; Gioli, B; Gitelson, A; Goded, I; Goeckede, M; Goldstein, AH; Gough, CM; Goulden, ML; Graf, A; Griebel, A; Gruening, C; Grunwald, T; Hammerle, A; Han, S; Han, X; Hansen, BU; Hanson, C; Hatakka, J; He, Y; Hehn, M; Heinesch, B; Hinko-Najera, N; Hortnagl, L; Hutley, L; Ibrom, A; Ikawa, H; Jackowicz-Korczynski, M; Janous, D; Jans, W; Jassal, R; Jiang, S; Kato, T; Khomik, M; Klatt, J; Knohl, A; Knox, S; Kobayashi, H; Koerber, G; Kolle, O; Kosugi, Y; Kotani, A; Kowalski, A; Kruijt, B; Kurbatova, J; Kutsch, WL; Kwon, H; Launiainen, S; Laurila, T; Law, B; Leuning, R; Li, Y; Liddell, M; Limousin, J-M; Lion, M; Liska, AJ; Lohila, A; Lopez-Ballesteros, A; Lopez-Blanco, E; Loubet, B; Loustau, D; Lucas-Moffat, A; Luers, J; Ma, S; Macfarlane, C; Magliulo, V; Maier, R; Mammarella, I; Manca, G; Marcolla, B; Margolis, HA; Marras, S; Massman, W; Mastepanov, M; Matamala, R; Matthes, JH; Mazzenga, F; McCaughey, H; McHugh, I; McMillan, AMS; Merbold, L; Meyer, W; Meyers, T; Miller, SD; Minerbi, S; Moderow, U; Monson, RK; Montagnani, L; Moore, CE; Moors, E; Moreaux, V; Moureaux, C; Munger, JW; Nakai, T; Neirynck, J; Nesic, Z; Nicolini, G; Noormets, A; Northwood, M; Nosetto, M; Nouvellon, Y; Novick, K; Oechel, W; Olesen, JE; Ourcival, J-M; Papuga, SA; Parmentier, F-J; Paul-Limoges, E; Pavelka, M; Peichl, M; Pendall, E; Phillips, RP; Pilegaard, K; Pirk, N; Posse, G; Powell, T; Prasse, H; Prober, SM; Rambal, S; Rannik, U; Raz-Yaseef, N; Rebmann, C; Reed, D; de Dios, VR; Restrepo-Coupe, N; Reverter, BR; Roland, M; Sabbatini, S; Sachs, T; Saleska, SR; Sanchez-Canete, EP; Sanchez-Mejia, ZM; Schmid, HP; Schmidt, M; Schneider, K; Schrader, F; Schroder, I; Scott, RL; Sedlak, P; Serrano-Ortiz, P; Shao, C; Shi, P; Shironya, I; Siebicke, L; Sigut, L; Silberstein, R; Sirca, C; Spano, D; Steinbrecher, R; Stevens, RM; Sturtevant, C; Suyker, A; Tagesson, T; Takanashi, S; Tang, Y; Tapper, N; Thom, J; Tomassucci, M; Tuovinen, J-P; Urbanski, S; Valentini, R; van der Molen, M; van Gorsel, E; van Huissteden, K; Varlagin, A; Verfaillie, J; Vesala, T; Vincke, C; Vitale, D; Vygodskaya, N; Walker, JP; Walter-Shea, E; Wang, H; Weber, R; Westermann, S; Wille, C; Wofsy, S; Wohlfahrt, G; Wolf, S; Woodgate, W; Li, Y; Zampedri, R; Zhang, J; Zhou, G; Zona, D; Agarwal, D; Biraud, S; Torn, M; Papale, D 2021-02-25 The FLUXNET2015 dataset and the ONEFlux processing pipeline for eddy covariance data (vol 7, 225, 2020) A Correction to this paper has been published: https://doi.org/10.1038/s41597-021-00851-9. Journal Article

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Wed, 17 Feb 2021 00:00:00 GMT

Coignard, J; Lush, M; Beesley, J; O'Mara, TA; Dennis, J; Tyrer, JP; Barnes, DR; McGuffog, L; Leslie, G; Bolla, MK; Adank, MA; Agata, S; Ahearn, T; Aittomaeki, K; Andrulis, IL; Anton-Culver, H; Arndt, V; Arnold, N; Aronson, KJ; Arun, BK; Augustinsson, A; Azzollini, J; Barrowdale, D; Baynes, C; Becher, H; Bermisheva, M; Bernstein, L; Bialkowska, K; Blomqvist, C; Bojesen, SE; Bonanni, B; Borg, A; Brauch, H; Brenner, H; Burwinkel, B; Buys, SS; Caldes, T; Caligo, MA; Campa, D; Carter, BD; Castelao, JE; Chang-Claude, J; Chanock, SJ; Chung, WK; Claes, KBM; Clarke, CL; Collee, JM; Conroy, DM; Czene, K; Daly, MB; Devilee, P; Diez, O; Ding, YC; Domchek, SM; Dork, T; dos-Santos-Silva, I; Dunning, AM; Dwek, M; Eccles, DM; Eliassen, AH; Engel, C; Eriksson, M; Evans, DG; Fasching, PA; Flyger, H; Fostira, F; Friedman, E; Fritschi, L; Frost, D; Gago-Dominguez, M; Gapstur, SM; Garber, J; Garcia-Barberan, V; Garcia-Closas, M; Garcia-Saenz, JA; Gaudet, MM; Gayther, SA; Gehrig, A; Georgoulias, V; Giles, GG; Godwin, AK; Goldberg, MS; Goldgar, DE; Gonzalez-Neira, A; Greene, MH; Guenel, P; Haeberle, L; Hahnen, E; Haiman, CA; Hakansson, N; Hall, P; Hamann, U; Harrington, PA; Hart, SN; He, W; Hogervorst, FBL; Hollestelle, A; Hopper, JL; Horcasitas, DJ; Hulick, PJ; Hunter, DJ; Imyanitov, EN; Jager, A; Jakubowska, A; James, PA; Jensen, UB; John, EM; Jones, ME; Kaaks, R; Kapoor, PM; Karlan, BY; Keeman, R; Khusnutdinova, E; Kiiski, JI; Ko, Y-D; Kosma, V-M; Kraft, P; Kurian, AW; Laitman, Y; Lambrechts, D; Le Marchand, L; Lester, J; Lesueur, F; Lindstrom, T; Lopez-Fernandez, A; Loud, JT; Luccarini, C; Mannermaa, A; Manoukian, S; Margolin, S; Martens, JWM; Mebirouk, N; Meindl, A; Miller, A; Milne, RL; Montagna, M; Nathanson, KL; Neuhausen, SL; Nevanlinna, H; Nielsen, FC; O'Brien, KM; Olopade, OI; Olson, JE; Olsson, H; Osorio, A; Ottini, L; Park-Simon, T-W; Parsons, MT; Pedersen, IS; Peshkin, B; Peterlongo, P; Peto, J; Pharoah, PDP; Phillips, K-A; Polley, EC; Poppe, B; Presneau, N; Angel Pujana, M; Punie, K; Radice, P; Rantala, J; Rashid, MU; Rennert, G; Rennert, HS; Robson, M; Romero, A; Rossing, M; Saloustros, E; Sandler, DP; Santella, R; Scheuner, MT; Schmidt, MK; Schmidt, G; Scott, C; Sharma, P; Soucy, P; Southey, MC; Spinelli, JJ; Steinsnyder, Z; Stone, J; Stoppa-Lyonnet, D; Swerdlow, A; Tamimi, RM; Tapper, WJ; Taylor, JA; Terry, MB; Teule, A; Thull, DL; Tischkowitz, M; Toland, AE; Torres, D; Trainer, AH; Truong, T; Tung, N; Vachon, CM; Vega, A; Vijai, J; Wang, Q; Wappenschmidt, B; Weinberg, CR; Weitzel, JN; Wendt, C; Wolk, A; Yadav, S; Yang, XR; Yannoukakos, D; Zheng, W; Ziogas, A; Zorn, KK; Park, SK; Thomassen, M; Offit, K; Schmutzler, RK; Couch, FJ; Simard, J; Chenevix-Trench, G; Easton, DF; Andrieu, N; Antoniou, AC 2021-02-17 A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10-8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers. Journal Article

Seropositivity and geographical distribution of Strongyloides stercoralis in Australia: A study of pathology laboratory data from 2012-2016

Mon, 01 Mar 2021 00:00:00 GMT

Shield, J; Braat, S; Watts, M; Robertson, G; Beaman, M; McLeod, J; Baird, RW; Hart, J; Robson, J; Lee, R; McKessar, S; Nicholson, S; Mayer-Coverdale, J; Biggs, B-A 2021-03-01 Seropositivity and geographical distribution of Strongyloides stercoralis in Australia: A study of pathology laboratory data from 2012-2016 BACKGROUND: There are no national prevalence studies of Strongyloides stercoralis infection in Australia, although it is known to be endemic in northern Australia and is reported in high risk groups such as immigrants and returned travellers. We aimed to determine the seropositivity (number positive per 100,000 of population and percent positive of those tested) and geographical distribution of S. stercoralis by using data from pathology laboratories. METHODOLOGY: We contacted all seven Australian laboratories that undertake Strongyloides serological (ELISA antibody) testing to request de-identified data from 2012-2016 inclusive. Six responded. One provided positive data only. The number of people positive, number negative and number tested per 100,000 of population (Australian Bureau of Statistics data) were calculated including for each state/territory, each Australian Bureau of Statistics Statistical Area Level 3 (region), and each suburb/town/community/locality. The data was summarized and expressed as maps of Australia and Greater Capital Cities. PRINCIPAL FINDINGS: We obtained data for 81,777 people who underwent serological testing for Strongyloides infection, 631 of whom were from a laboratory that provided positive data only. Overall, 32 (95% CI: 31, 33) people per 100,000 of population were seropositive, ranging between 23/100,000 (95% CI: 19, 29) (Tasmania) and 489/100,000 population (95%CI: 462, 517) (Northern Territory). Positive cases were detected across all states and territories, with the highest (260-996/100,000 and 17-40% of those tested) in regions across northern Australia, north-east New South Wales and north-west South Australia. Some regions in Greater Capital Cities also had a high seropositivity (112-188/100,000 and 17-20% of those tested). Relatively more males than females tested positive. Relatively more adults than children tested positive. Children were under-represented in the data. CONCLUSIONS/SIGNIFICANCE: The study confirms that substantial numbers of S. stercoralis infections occur in Australia and provides data to inform public health planning. Journal Article

Rapid Translation of COVID-19 Preprint Data into Critical Care Practice.

Mon, 01 Feb 2021 00:00:00 GMT

Burrell, AJC; Serpa Neto, A; Trapani, T; Broadley, T; French, C; Udy, AA; SPRINT-SARI Australia Investigators 2021-02-01 Rapid Translation of COVID-19 Preprint Data into Critical Care Practice. Journal Article

DNA methylation patterns identify subgroups of pancreatic neuroendocrine tumors with clinical association

Wed, 03 Feb 2021 00:00:00 GMT

Lakis, V; Lawlor, RT; Newell, F; Patch, A-M; Mafficini, A; Sadanandam, A; Koufariotis, LT; Johnston, RL; Leonard, C; Wood, S; Rusev, B; Corbo, V; Luchini, C; Cingarlini, S; Landoni, L; Salvia, R; Milella, M; Chang, D; Bailey, P; Jamieson, NB; Duthie, F; Gingras, M-C; Muzny, DM; Wheeler, DA; Gibbs, RA; Milione, M; Pederzoli, P; Samra, JS; Gill, AJ; Johns, AL; Pearson, J; Biankin, A; Grimmond, SM; Waddell, N; Nones, K; Scarpa, A 2021-02-03 DNA methylation patterns identify subgroups of pancreatic neuroendocrine tumors with clinical association Here we report the DNA methylation profile of 84 sporadic pancreatic neuroendocrine tumors (PanNETs) with associated clinical and genomic information. We identified three subgroups of PanNETs, termed T1, T2 and T3, with distinct patterns of methylation. The T1 subgroup was enriched for functional tumors and ATRX, DAXX and MEN1 wild-type genotypes. The T2 subgroup contained tumors with mutations in ATRX, DAXX and MEN1 and recurrent patterns of chromosomal losses in half of the genome with no association between regions with recurrent loss and methylation levels. T2 tumors were larger and had lower methylation in the MGMT gene body, which showed positive correlation with gene expression. The T3 subgroup harboured mutations in MEN1 with recurrent loss of chromosome 11, was enriched for grade G1 tumors and showed histological parameters associated with better prognosis. Our results suggest a role for methylation in both driving tumorigenesis and potentially stratifying prognosis in PanNETs. Journal Article

Evidence for similar structural brain anomalies in youth and adult attention-deficit/hyperactivity disorder: a machine learning analysis.

Mon, 01 Feb 2021 00:00:00 GMT

Zhang-James, Y; Helminen, EC; Liu, J; ENIGMA-ADHD Working Group; Franke, B; Hoogman, M; Faraone, SV 2021-02-01 Evidence for similar structural brain anomalies in youth and adult attention-deficit/hyperactivity disorder: a machine learning analysis. Attention-deficit/hyperactivity disorder (ADHD) affects 5% of children world-wide. Of these, two-thirds continue to have impairing symptoms of ADHD into adulthood. Although a large literature implicates structural brain differences of the disorder, it is not clear if adults with ADHD have similar neuroanatomical differences as those seen in children with recent reports from the large ENIGMA-ADHD consortium finding structural differences for children but not for adults. This paper uses deep learning neural network classification models to determine if there are neuroanatomical changes in the brains of children with ADHD that are also observed for adult ADHD, and vice versa. We found that structural MRI data can significantly separate ADHD from control participants for both children and adults. Consistent with the prior reports from ENIGMA-ADHD, prediction performance and effect sizes were better for the child than the adult samples. The model trained on adult samples significantly predicted ADHD in the child sample, suggesting that our model learned anatomical features that are common to ADHD in childhood and adulthood. These results support the continuity of ADHD's brain differences from childhood to adulthood. In addition, our work demonstrates a novel use of neural network classification models to test hypotheses about developmental continuity. Journal Article

Mapping subnational HIV mortality in six Latin American countries with incomplete vital registration systems

Fri, 08 Jan 2021 00:00:00 GMT

Graetz, N; Woyczynski, L; Wilson, KF; Hall, JB; Abate, KH; Abd-Allah, F; Adebayo, OM; Adekanmbi, V; Afshari, M; Ajumobi, O; Akinyemiju, T; Alahdab, F; Al-Aly, Z; Alcalde Rabanal, JE; Alijanzadeh, M; Alipour, V; Altirkawi, K; Amiresmaili, M; Anber, NH; Andrei, CL; Anjomshoa, M; Antonio, CAT; Arabloo, J; Aremu, O; Aryal, KK; Asadi-Aliabadi, M; Atique, S; Ausloos, M; Awasthi, A; Ayala Quintanilla, BP; Azari, S; Badawi, A; Banoub, JAM; Barker-Collo, SL; Barnett, A; Bedi, N; Bennett, DA; Bhattacharjee, NV; Bhattacharyya, K; Bhattarai, S; Bhutta, ZA; Bijani, A; Bikbov, B; Britton, G; Burstein, R; Butt, ZA; Cardenas, R; Carvalho, F; Castaneda-Orjuela, CA; Castro, F; Cerin, E; Chang, J-C; Collison, ML; Cooper, C; Cork, MA; Daoud, F; Das Gupta, R; Weaver, ND; De Neve, J-W; Deribe, K; Desalegn, BB; Deshpande, A; Desta, M; Dhimal, M; Diaz, D; Dinberu, MT; Djalalinia, S; Dubey, M; Dubljanin, E; Duraes, AR; Dwyer-Lindgren, L; Earl, L; Kalan, ME; El-Khatib, Z; Eshrati, B; Faramarzi, M; Fareed, M; Faro, A; Fereshtehnejad, S-M; Fernandes, E; Filip, I; Fischer, F; Fukumoto, T; Garcia, JA; Gill, PS; Gill, TK; Gona, PN; Gopalani, SV; Grada, A; Guo, Y; Gupta, R; Gupta, V; Haj-Mirzaian, A; Haj-Mirzaian, A; Hamadeh, RR; Hamidi, S; Hasan, M; Hassen, HY; Hendrie, D; Henok, A; Henry, NJ; Hernandez Prado, B; Herteliu, C; Hole, MK; Hossain, N; Hosseinzadeh, M; Hu, G; Ilesanmi, OS; Irvani, SSN; Islam, SMS; Izadi, N; Jakovljevic, M; Jha, RP; Ji, JS; Jonas, JB; Shushtari, ZJ; Jozwiak, JJ; Kanchan, T; Kasaeian, A; Karyani, AK; Keiyoro, PN; Kesavachandran, CN; Khader, YS; Khafaie, MA; Khan, EA; Khater, MM; Kiadaliri, AA; Kiirithio, DN; Kim, YJ; Kimokoti, RW; Kinyoki, DK; Kisa, A; Kosen, S; Koyanagi, A; Krishan, K; Defo, BK; Kumar, M; Kumar, P; Lami, FH; Lee, PH; Levine, AJ; Li, S; Liao, Y; Lim, L-L; Listl, S; Lopez, JCF; Majdan, M; Majdzadeh, R; Majeed, A; Malekzadeh, R; Mansournia, MA; Martins-Melo, FR; Masaka, A; Massenburg, BB; Mayala, BK; Mehta, KM; Mendoza, W; Mensah, GA; Meretoja, TJ; Mestrovic, T; Miller, TR; Mini, GK; Mirrakhimov, EM; Moazen, B; Mohammad, DK; Darwesh, AM; Mohammed, S; Mohebi, F; Mokdad, AH; Monasta, L; Moodley, Y; Moosazadeh, M; Moradi, G; Moradi-Lakeh, M; Moraga, P; Morawska, L; Morrison, SD; Mosser, JF; Mousavi, SM; Murray, CJL; Mustafa, G; Nahvijou, A; Najafi, F; Nangia, V; Ndwandwe, DE; Negoi, I; Negoi, RI; Ngunjiri, JW; Cuong, TN; Long, HN; Ningrum, DNA; Noubiap, JJ; Shiadeh, MN; Nyasulu, PS; Oancea, B; Ogbo, FA; Olagunju, AT; Olusanya, BO; Olusanya, JO; Onwujekwe, OE; Ortega-Altamirano, DDV; Ortiz-Panozo, E; Overland, S; Mahesh, PA; Pana, A; Panda-Jonas, S; Pati, S; Patton, GC; Perico, N; Pigott, DM; Pirsaheb, M; Postma, MJ; Pourshams, A; Prakash, S; Puri, P; Qorbani, M; Radfar, A; Rahim, F; Rahimi-Movaghar, V; Rahman, MHU; Rajati, F; Ranabhat, CL; Rawaf, DL; Rawaf, S; Reiner, RC; Remuzzi, G; Renzaho, AMN; Rezaei, S; Rezapour, A; Rios-Gonzalez, C; Roever, L; Ronfani, L; Roshandel, G; Rostami, A; Rubagotti, E; Sadat, N; Sadeghi, E; Safari, Y; Sagar, R; Salam, N; Salamati, P; Salimi, Y; Salimzadeh, H; Samy, AM; Sanabria, J; Milicevic, MMS; Sartorius, B; Sathian, B; Sawant, AR; Schaeffer, LE; Schipp, MF; Schwebel, DC; Senbeta, AM; Sepanlou, SG; Shaikh, MA; Shams-Beyranvand, M; Shamsizadeh, M; Sharafi, K; Sharma, R; She, J; Sheikh, A; Shigematsu, M; Siabani, S; Silveira, DGA; Singh, JA; Sinha, DN; Skirbekk, V; Sligar, A; Sobaih, BH; Soofi, M; Soriano, JB; Soyiri, IN; Sreeramareddy, CT; Sudaryanto, A; Sufiyan, MB; Sutradhar, I; Sylaja, P; Tabares-Seisdedos, R; Tadesse, BT; Temsah, M-H; Terkawi, AS; Tessema, B; Tessema, ZT; Thankappan, KR; Topor-Madry, R; Tovani-Palone, MR; Tran, BX; Car, LT; Ullah, I; Uthman, OA; Valdez, PR; Veisani, Y; Violante, FS; Vlassov, V; Vollmer, S; Vu, GT; Waheed, Y; Wang, Y-P; Wilkinson, JC; Winkler, AS; Wolfe, CDA; Yamada, T; Yeshaneh, A; Yip, P; Yisma, E; Yonemoto, N; Younis, MZ; Yousefifard, M; Yu, C; Bin Zaman, S; Zhang, J; Zhang, Y; Zodpey, S; Gakidou, E; Hay, SI 2021-01-08 Mapping subnational HIV mortality in six Latin American countries with incomplete vital registration systems BACKGROUND: Human immunodeficiency virus (HIV) remains a public health priority in Latin America. While the burden of HIV is historically concentrated in urban areas and high-risk groups, subnational estimates that cover multiple countries and years are missing. This paucity is partially due to incomplete vital registration (VR) systems and statistical challenges related to estimating mortality rates in areas with low numbers of HIV deaths. In this analysis, we address this gap and provide novel estimates of the HIV mortality rate and the number of HIV deaths by age group, sex, and municipality in Brazil, Colombia, Costa Rica, Ecuador, Guatemala, and Mexico. METHODS: We performed an ecological study using VR data ranging from 2000 to 2017, dependent on individual country data availability. We modeled HIV mortality using a Bayesian spatially explicit mixed-effects regression model that incorporates prior information on VR completeness. We calibrated our results to the Global Burden of Disease Study 2017. RESULTS: All countries displayed over a 40-fold difference in HIV mortality between municipalities with the highest and lowest age-standardized HIV mortality rate in the last year of study for men, and over a 20-fold difference for women. Despite decreases in national HIV mortality in all countries-apart from Ecuador-across the period of study, we found broad variation in relative changes in HIV mortality at the municipality level and increasing relative inequality over time in all countries. In all six countries included in this analysis, 50% or more HIV deaths were concentrated in fewer than 10% of municipalities in the latest year of study. In addition, national age patterns reflected shifts in mortality to older age groups-the median age group among decedents ranged from 30 to 45 years of age at the municipality level in Brazil, Colombia, and Mexico in 2017. CONCLUSIONS: Our subnational estimates of HIV mortality revealed significant spatial variation and diverging local trends in HIV mortality over time and by age. This analysis provides a framework for incorporating data and uncertainty from incomplete VR systems and can help guide more geographically precise public health intervention to support HIV-related care and reduce HIV-related deaths. Journal Article

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

Tue, 20 Mar 2018 00:00:00 GMT

Mikropoulos, C; Hutten Selkirk, CG; Saya, S; Bancroft, E; Vertosick, E; Dadaev, T; Brendler, C; Page, E; Dias, A; Evans, DG; Rothwell, J; Maehle, L; Axcrona, K; Richardson, K; Eccles, D; Jensen, T; Osther, PJ; van Asperen, CJ; Vasen, H; Kiemeney, LA; Ringelberg, J; Cybulski, C; Wokolorczyk, D; Hart, R; Glover, W; Lam, J; Taylor, L; Salinas, M; Feliubadaló, L; Oldenburg, R; Cremers, R; Verhaegh, G; van Zelst-Stams, WA; Oosterwijk, JC; Cook, J; Rosario, DJ; Buys, SS; Conner, T; Domchek, S; Powers, J; Ausems, MGEM; Teixeira, MR; Maia, S; Izatt, L; Schmutzler, R; Rhiem, K; Foulkes, WD; Boshari, T; Davidson, R; Ruijs, M; Helderman-van den Enden, ATJM; Andrews, L; Walker, L; Snape, K; Henderson, A; Jobson, I; Lindeman, GJ; Liljegren, A; Harris, M; Adank, MA; Kirk, J; Taylor, A; Susman, R; Chen-Shtoyerman, R; Pachter, N; Spigelman, A; Side, L; Zgajnar, J; Mora, J; Brewer, C; Gadea, N; Brady, AF; Gallagher, D; van Os, T; Donaldson, A; Stefansdottir, V; Barwell, J; James, PA; Murphy, D; Friedman, E; Nicolai, N; Greenhalgh, L; Obeid, E; Murthy, V; Copakova, L; McGrath, J; Teo, S-H; Strom, S; Kast, K; Leongamornlert, DA; Chamberlain, A; Pope, J; Newlin, AC; Aaronson, N; Ardern-Jones, A; Bangma, C; Castro, E; Dearnaley, D; Eyfjord, J; Falconer, A; Foster, CS; Gronberg, H; Hamdy, FC; Johannsson, O; Khoo, V; Lubinski, J; Grindedal, EM; McKinley, J; Shackleton, K; Mitra, AV; Moynihan, C; Rennert, G; Suri, M; Tricker, K; IMPACT study collaborators; Moss, S; Kote-Jarai, Z; Vickers, A; Lilja, H; Helfand, BT; Eeles, RA 2018-03-20 Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition. This corrects the article DOI: 10.1038/bjc.2017.429. Journal Article

Cerebral small vessel disease genomics and its implications across the lifespan

Tue, 08 Dec 2020 00:00:00 GMT

Sargurupremraj, M; Suzuki, H; Jian, X; Sarnowski, C; Evans, TE; Bis, JC; Eiriksdottir, G; Sakaue, S; Terzikhan, N; Habes, M; Zhao, W; Armstrong, NJ; Hofer, E; Yanek, LR; Hagenaars, SP; Kumar, RB; van den Akker, EB; McWhirter, RE; Trompet, S; Mishra, A; Saba, Y; Satizabal, CL; Beaudet, G; Petit, L; Tsuchida, A; Zago, L; Schilling, S; Sigurdsson, S; Gottesman, RF; Lewis, CE; Aggarwal, NT; Lopez, OL; Smith, JA; Hernandez, MCV; van der Grond, J; Wright, MJ; Knol, MJ; Dorr, M; Thomson, RJ; Bordes, C; Le Grand, Q; Duperron, M-G; Smith, A; Knopman, DS; Schreiner, PJ; Evans, DA; Rotter, J; Beiser, AS; Maniega, SM; Beekman, M; Trollor, J; Stott, DJ; Vernooij, MW; Wittfeld, K; Niessen, WJ; Soumare, A; Boerwinkle, E; Sidney, S; Turner, ST; Davies, G; Thalamuthu, A; Volker, U; van Buchem, MA; Bryan, RN; Dupuis, J; Bastin, ME; Ames, D; Teumer, A; Amouyel, P; Kwok, JB; Bulow, R; Deary, IJ; Schofield, PR; Brodaty, H; Jiang, J; Tabara, Y; Setoh, K; Miyamoto, S; Yoshida, K; Nagata, M; Kamatani, Y; Matsuda, F; Psaty, BM; Bennett, DA; De Jager, PL; Mosley, TH; Sachdev, PS; Schmidt, R; Warren, HR; Evangelou, E; Tregouet, D-A; Ikram, MA; Wen, W; DeCarli, C; Srikanth, VK; Jukema, JW; Slagboom, EP; Kardia, SLR; Okada, Y; Mazoyer, B; Wardlaw, JM; Nyquist, PA; Mather, KA; Grabe, HJ; Schmidt, H; Van Duijn, CM; Gudnason, V; Longstreth, WT; Launer, LJ; Lathrop, M; Seshadri, S; Tzourio, C; Adams, HH; Matthews, PM; Fornage, M; Debette, S 2020-12-08 Cerebral small vessel disease genomics and its implications across the lifespan White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WMH-volume in a cohort of 50,970 older individuals, accounting for modification/confounding by hypertension. Aggregated WMH risk variants were associated with altered white matter integrity (p = 2.5×10-7) in brain images from 1,738 young healthy adults, providing insight into the lifetime impact of SVD genetic risk. Mendelian randomization suggested causal association of increasing WMH-volume with stroke, Alzheimer-type dementia, and of increasing blood pressure (BP) with larger WMH-volume, notably also in persons without clinical hypertension. Transcriptome-wide colocalization analyses showed association of WMH-volume with expression of 39 genes, of which four encode known drug targets. Finally, we provide insight into BP-independent biological pathways underlying SVD and suggest potential for genetic stratification of high-risk individuals and for genetically-informed prioritization of drug targets for prevention trials. Journal Article

Department of Error.

Sat, 22 Jun 2019 00:00:00 GMT

Stanaway, JD; Afshin, A; Gakidou, E; Lim, SS; Abate, D; Abate, KH; Abbafati, C; Abbasi, N; Abbastabar, H; Abd-Allah, F; Abdela, J; Abdelalim, A; Abdollahpour, I; Abdulkader, RS; Abebe, M; Abebe, Z; Abera, SF; Abil, OZ; Abraha, HN; Abrham, AR; Abu-Raddad, LJ; Abu-Rmeileh, NME; Accrombessi, MMK; Acharya, D; Acharya, P; Adamu, AA; Adane, AA; Adebayo, OM; Adedoyin, RA; Adekanmbi, V; Ademi, Z; Adetokunboh, OO; Adib, MG; Admasie, A; Adsuar, JC; Afanvi, KA; Afarideh, M; Agarwal, G; Aggarwal, A; Aghayan, SA; Agrawal, A; Agrawal, S; Ahmadi, A; Ahmadi, M; Ahmadieh, H; Ahmed, MB; Aichour, AN; Aichour, I; Aichour, MTE; Akbari, ME; Akinyemiju, T; Akseer, N; Al-Aly, Z; Al-Eyadhy, A; Al-Mekhlafi, HM; Alahdab, F; Alam, K; Alam, S; Alam, T; Alashi, A; Alavian, SM; Alene, KA; Ali, K; Ali, SM; Alijanzadeh, M; Alizadeh-Navaei, R; Aljunid, SM; Alkerwi, A; Alla, F; Alsharif, U; Altirkawi, K; Alvis-Guzman, N; Amare, AT; Ammar, W; Anber, NH; Anderson, JA; Andrei, CL; Androudi, S; Animut, MD; Anjomshoa, M; Ansha, MG; Antó, JM; Antonio, CAT; Anwari, P; Appiah, LT; Appiah, SCY; Arabloo, J; Aremu, O; Ärnlöv, J; Artaman, A; Aryal, KK; Asayesh, H; Ataro, Z; Ausloos, M; Avokpaho, EFGA; Awasthi, A; Ayala Quintanilla, BP; Ayer, R; Ayuk, TB; Azzopardi, PS 2019-06-22 Department of Error. Journal Article

Cytosponge-trefoil factor 3 versus usual care to identify Barrett's oesophagus in a primary care setting: a multicentre, pragmatic, randomised controlled trial

Sat, 01 Aug 2020 00:00:00 GMT

Fitzgerald, RC; di Pietro, M; O'Donovan, M; Maroni, R; Muldrew, B; Debiram-Beecham, I; Gehrung, M; Offman, J; Tripathi, M; Smith, SG; Aigret, B; Walter, FM; Rubin, G; Sasieni, P 2020-08-01 Cytosponge-trefoil factor 3 versus usual care to identify Barrett's oesophagus in a primary care setting: a multicentre, pragmatic, randomised controlled trial BACKGROUND: Treatment of dysplastic Barrett's oesophagus prevents progression to adenocarcinoma; however, the optimal diagnostic strategy for Barrett's oesophagus is unclear. The Cytosponge-trefoil factor 3 (TFF3) is a non-endoscopic test for Barrett's oesophagus. The aim of this study was to investigate whether offering this test to patients on medication for gastro-oesophageal reflux would increase the detection of Barrett's oesophagus compared with standard management. METHODS: This multicentre, pragmatic, randomised controlled trial was done in 109 socio-demographically diverse general practice clinics in England. Randomisation was done both at the general practice clinic level (cluster randomisation) and at the individual patient level, and the results for each type of randomisation were analysed separately before being combined. Patients were eligible if they were aged 50 years or older, had been taking acid-suppressants for symptoms of gastro-oesophageal reflux for more than 6 months, and had not undergone an endoscopy procedure within the past 5 years. General practice clinics were selected by the local clinical research network and invited to participate in the trial. For cluster randomisation, clinics were randomly assigned (1:1) by the trial statistician using a computer-generated randomisation sequence; for individual patient-level randomisation, patients were randomly assigned (1:1) by the general practice clinics using a centrally prepared computer-generated randomisation sequence. After randomisation, participants received either standard management of gastro-oesophageal reflux (usual care group), in which participants only received an endoscopy if required by their general practitioner, or usual care plus an offer of the Cytosponge-TFF3 procedure, with a subsequent endoscopy if the procedure identified TFF3-positive cells (intervention group). The primary outcome was the diagnosis of Barrett's oesophagus at 12 months after enrolment, expressed as a rate per 1000 person-years, in all participants in the intervention group (regardless of whether they had accepted the offer of the Cytosponge-TFF3 procedure) compared with all participants in the usual care group. Analyses were intention-to-treat. The trial is registered with the ISRCTN registry, ISRCTN68382401, and is completed. FINDINGS: Between March 20, 2017, and March 21, 2019, 113 general practice clinics were enrolled, but four clinics dropped out shortly after randomisation. Using an automated search of the electronic prescribing records of the remaining 109 clinics, we identified 13 657 eligible patients who were sent an introductory letter with 14 days to opt out. 13 514 of these patients were randomly assigned (per practice or at the individual patient level) to the usual care group (n=6531) or the intervention group (n=6983). Following randomisation, 149 (2%) of 6983 participants in the intervention group and 143 (2%) of 6531 participants in the usual care group, on further scrutiny, did not meet all eligibility criteria or withdrew from the study. Of the remaining 6834 participants in the intervention group, 2679 (39%) expressed an interest in undergoing the Cytosponge-TFF3 procedure. Of these, 1750 (65%) met all of the eligibility criteria on telephone screening and underwent the procedure. Most of these participants (1654 [95%]; median age 69 years) swallowed the Cytosponge successfully and produced a sample. 231 (3%) of 6834 participants had a positive Cytosponge-TFF3 result and were referred for an endoscopy. Patients who declined the offer of the Cytosponge-TFF3 procedure and all participants in the usual care group only had an endoscopy if deemed necessary by their general practitioner. During an average of 12 months of follow-up, 140 (2%) of 6834 participants in the intervention group and 13 (<1%) of 6388 participants in the usual care group were diagnosed with Barrett's oesophagus (absolute difference 18·3 per 1000 person-years [95% CI 14·8-21·8]; rate ratio adjusted for cluster randomisation 10·6 [95% CI 6·0-18·8], p<0·0001). Nine (<1%) of 6834 participants were diagnosed with dysplastic Barrett's oesophagus (n=4) or stage I oesophago-gastric cancer (n=5) in the intervention group, whereas no participants were diagnosed with dysplastic Barrett's oesophagus or stage I gastro-oesophageal junction cancer in the usual care group. Among 1654 participants in the intervention group who swallowed the Cytosponge device successfully, 221 (13%) underwent endoscopy after testing positive for TFF3 and 131 (8%, corresponding to 59% of those having an endoscopy) were diagnosed with Barrett's oesophagus or cancer. One patient had a detachment of the Cytosponge from the thread requiring endoscopic removal, and the most common side-effect was a sore throat in 63 (4%) of 1654 participants. INTERPRETATION: In patients with gastro-oesophageal reflux, the offer of Cytosponge-TFF3 testing results in improved detection of Barrett's oesophagus. Cytosponge-TFF3 testing could also lead to the diagnosis of treatable dysplasia and early cancer. This strategy will lead to additional endoscopies with some false positive results. FUNDING: Cancer Research UK, National Institute for Health Research, the UK National Health Service, Medtronic, and the Medical Research Council. Journal Article

Height and body-mass index trajectories of school-aged children and adolescents from 1985 to 2019 in 200 countries and territories: a pooled analysis of 2181 population-based studies with 65 million participants.

Sat, 07 Nov 2020 00:00:00 GMT

NCD Risk Factor Collaboration (NCD-RisC) 2020-11-07 Height and body-mass index trajectories of school-aged children and adolescents from 1985 to 2019 in 200 countries and territories: a pooled analysis of 2181 population-based studies with 65 million participants. BACKGROUND: Comparable global data on health and nutrition of school-aged children and adolescents are scarce. We aimed to estimate age trajectories and time trends in mean height and mean body-mass index (BMI), which measures weight gain beyond what is expected from height gain, for school-aged children and adolescents. METHODS: For this pooled analysis, we used a database of cardiometabolic risk factors collated by the Non-Communicable Disease Risk Factor Collaboration. We applied a Bayesian hierarchical model to estimate trends from 1985 to 2019 in mean height and mean BMI in 1-year age groups for ages 5-19 years. The model allowed for non-linear changes over time in mean height and mean BMI and for non-linear changes with age of children and adolescents, including periods of rapid growth during adolescence. FINDINGS: We pooled data from 2181 population-based studies, with measurements of height and weight in 65 million participants in 200 countries and territories. In 2019, we estimated a difference of 20 cm or higher in mean height of 19-year-old adolescents between countries with the tallest populations (the Netherlands, Montenegro, Estonia, and Bosnia and Herzegovina for boys; and the Netherlands, Montenegro, Denmark, and Iceland for girls) and those with the shortest populations (Timor-Leste, Laos, Solomon Islands, and Papua New Guinea for boys; and Guatemala, Bangladesh, Nepal, and Timor-Leste for girls). In the same year, the difference between the highest mean BMI (in Pacific island countries, Kuwait, Bahrain, The Bahamas, Chile, the USA, and New Zealand for both boys and girls and in South Africa for girls) and lowest mean BMI (in India, Bangladesh, Timor-Leste, Ethiopia, and Chad for boys and girls; and in Japan and Romania for girls) was approximately 9-10 kg/m2. In some countries, children aged 5 years started with healthier height or BMI than the global median and, in some cases, as healthy as the best performing countries, but they became progressively less healthy compared with their comparators as they grew older by not growing as tall (eg, boys in Austria and Barbados, and girls in Belgium and Puerto Rico) or gaining too much weight for their height (eg, girls and boys in Kuwait, Bahrain, Fiji, Jamaica, and Mexico; and girls in South Africa and New Zealand). In other countries, growing children overtook the height of their comparators (eg, Latvia, Czech Republic, Morocco, and Iran) or curbed their weight gain (eg, Italy, France, and Croatia) in late childhood and adolescence. When changes in both height and BMI were considered, girls in South Korea, Vietnam, Saudi Arabia, Turkey, and some central Asian countries (eg, Armenia and Azerbaijan), and boys in central and western Europe (eg, Portugal, Denmark, Poland, and Montenegro) had the healthiest changes in anthropometric status over the past 3·5 decades because, compared with children and adolescents in other countries, they had a much larger gain in height than they did in BMI. The unhealthiest changes-gaining too little height, too much weight for their height compared with children in other countries, or both-occurred in many countries in sub-Saharan Africa, New Zealand, and the USA for boys and girls; in Malaysia and some Pacific island nations for boys; and in Mexico for girls. INTERPRETATION: The height and BMI trajectories over age and time of school-aged children and adolescents are highly variable across countries, which indicates heterogeneous nutritional quality and lifelong health advantages and risks. FUNDING: Wellcome Trust, AstraZeneca Young Health Programme, EU. Journal Article

Prospects for observing and localizing gravitational-wave transients with Advanced LIGO, Advanced Virgo and KAGRA

Mon, 28 Sep 2020 00:00:00 GMT

Abbott, BP; Abbott, R; Abbott, TD; Abraham, S; Acernese, F; Ackley, K; Adams, C; Adya, VB; Affeldt, C; Agathos, M; Agatsuma, K; Aggarwal, N; Aguiar, OD; Aiello, L; Ain, A; Ajith, P; Akutsu, T; Allen, G; Allocca, A; Aloy, MA; Altin, PA; Amato, A; Ananyeva, A; Anderson, SB; Anderson, WG; Ando, M; Angelova, SV; Antier, S; Appert, S; Arai, K; Arai, K; Arai, Y; Araki, S; Araya, A; Araya, MC; Areeda, JS; Arene, M; Aritomi, N; Arnaud, N; Arun, KG; Ascenzi, S; Ashton, G; Aso, Y; Aston, SM; Astone, P; Aubin, F; Aufmuth, P; AultONeal, K; Austin, C; Avendano, V; Avila-Alvarez, A; Babak, S; Bacon, P; Badaracco, F; Bader, MKM; Bae, SW; Bae, YB; Baiotti, L; Bajpai, R; Baker, PT; Baldaccini, F; Ballardin, G; Ballmer, SW; Banagiri, S; Barayoga, JC; Barclay, SE; Barish, BC; Barker, D; Barkett, K; Barnum, S; Barone, F; Barr, B; Barsotti, L; Barsuglia, M; Barta, D; Bartlett, J; Barton, MA; Bartos, I; Bassiri, R; Basti, A; Bawaj, M; Bayley, JC; Bazzan, M; Becsy, B; Bejger, M; Belahcene, I; Bell, AS; Beniwal, D; Berger, BK; Bergmann, G; Bernuzzi, S; Bero, JJ; Berry, CPL; Bersanetti, D; Bertolini, A; Betzwieser, J; Bhandare, R; Bidler, J; Bilenko, IA; Bilgili, SA; Billingsley, G; Birch, J; Birney, R; Birnholtz, O; Biscans, S; Biscoveanu, S; Bisht, A; Bitossi, M; Bizouard, MA; Blackburn, JK; Blair, CD; Blair, DG; Blair, RM; Bloemen, S; Bode, N; Boer, M; Boetzel, Y; Bogaert, G; Bondu, F; Bonilla, E; Bonnand, R; Booker, P; Boom, BA; Booth, CD; Bork, R; Boschi, V; Bose, S; Bossie, K; Bossilkov, V; Bosveld, J; Bouffanais, Y; Bozzi, A; Bradaschia, C; Brady, PR; Bramley, A; Branchesi, M; Brau, JE; Briant, T; Briggs, JH; Brighenti, F; Brillet, A; Brinkmann, M; Brisson, V; Brockill, P; Brooks, AF; Brown, DA; Brown, DD; Brunett, S; Buikema, A; Bulik, T; Bulten, HJ; Buonanno, A; Buskulic, D; Buy, C; Byer, RL; Cabero, M; Cadonati, L; Cagnoli, G; Cahillane, C; Bustillo, JC; Callister, TA; Calloni, E; Camp, JB; Campbell, WA; Canepa, M; Cannon, K; Cannon, KC; Cao, H; Cao, J; Capocasa, E; Carbognani, F; Caride, S; Carney, MF; Carullo, G; Diaz, JC; Casentini, C; Caudill, S; Cavaglia, M; Cavalier, F; Cavalieri, R; Cella, G; Cerda-Duran, P; Cerretani, G; Cesarini, E; Chaibi, O; Chakravarti, K; Chamberlin, SJ; Chan, M; Chan, ML; Chao, S; Charlton, P; Chase, EA; Chassande-Mottin, E; Chatterjee, D; Chaturvedi, M; Chatziioannou, K; Cheeseboro, BD; Chen, CS; Chen, HY; Chen, KH; Chen, X; Chen, Y; Chen, YR; Cheng, H-P; Cheong, CK; Chia, HY; Chincarini, A; Chiummo, A; Cho, G; Cho, HS; Cho, M; Christensen, N; Chu, HY; Chu, Q; Chu, YK; Chua, S; Chung, KW; Chung, S; Ciani, G; Ciobanu, AA; Ciolfi, R; Cipriano, F; Cirone, A; Clara, F; Clark, JA; Clearwater, P; Cleva, F; Cocchieri, C; Coccia, E; Cohadon, P-F; Cohen, D; Colgan, R; Colleoni, M; Collette, CG; Collins, C; Cominsky, LR; Constancio, M; Conti, L; Cooper, SJ; Corban, P; Corbitt, TR; Cordero-Carrion, I; Corley, KR; Cornish, N; Corsi, A; Cortese, S; Costa, CA; Cotesta, R; Coughlin, MW; Coughlin, SB; Coulon, J-P; Countryman, ST; Couvares, P; Covas, PB; Cowan, EE; 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Huang, GZ; Huang, PW; Huang, YJ; Huerta, EA; Huet, D; Hughey, B; Hulko, M; Husa, S; Huttner, SH; Huynh-Dinh, T; Idzkowski, B; Iess, A; Ikenoue, B; Imam, S; Inayoshi, K; Ingram, C; Inoue, Y; Inta, R; Intini, G; Ioka, K; Irwin, B; Isa, HN; Isac, J-M; Isi, M; Itoh, Y; Iyer, BR; Izumi, K; Jacqmin, T; Jadhav, SJ; Jani, K; Janthalur, NN; Jaranowski, P; Jenkins, AC; Jiang, J; Johnson, DS; Jones, AW; Jones, DI; Jones, R; Jonker, RJG; Ju, L; Jung, K; Jung, P; Junker, J; Kajita, T; Kalaghatgi, CV; Kalogera, V; Kamai, B; Kamiizumi, M; Kanda, N; Kandhasamy, S; Kang, GW; Kanner, JB; Kapadia, SJ; Karki, S; Karvinen, KS; Kashyap, R; Kasprzack, M; Katsanevas, S; Katsavounidis, E; Katzman, W; Kaufer, S; Kawabe, K; Kawaguchi, K; Kawai, N; Kawasaki, T; Keerthana, NV; Kefelian, F; Keitel, D; Kennedy, R; Key, JS; Khalili, FY; Khan, H; Khan, I; Khan, S; Khan, Z; Khazanov, EA; Khursheed, M; Kijbunchoo, N; Kim, C; Kim, C; Kim, JC; Kim, J; Kim, K; Kim, W; Kim, WS; Kim, Y-M; Kimball, C; Kimura, N; King, EJ; King, PJ; Kinley-Hanlon, M; Kirchhoff, R; Kissel, JS; Kita, N; Kitazawa, H; Kleybolte, L; Klika, JH; Klimenko, S; Knowles, TD; Knyazev, E; Koch, P; Koehlenbeck, SM; Koekoek, G; Kojima, Y; Kokeyama, K; Koley, S; Komori, K; Kondrashov, V; Kong, AKH; Kontos, A; Koper, N; Korobko, M; Korth, WZ; Kotake, K; Kowalska, I; Kozak, DB; Kozakai, C; Kozu, R; Kringel, V; Krishnendu, N; Krolak, A; Kuehn, G; Kumar, A; Kumar, P; Kumar, R; Kumar, R; Kumar, S; Kume, J; Kuo, CM; Kuo, HS; Kuo, L; Kuroyanagi, S; Kusayanagi, K; Kutynia, A; Kwak, K; Kwang, S; Lackey, BD; Lai, KH; Lam, TL; Landry, M; Lane, BB; Lang, RN; Lange, J; Lantz, B; Lanza, RK; Lartaux-Vollard, A; Lasky, PD; Laxen, M; Lazzarini, A; Lazzaro, C; Leaci, P; Leavey, S; Lecoeuche, YK; Lee, CH; Lee, HK; Lee, HM; Lee, HW; Lee, J; Lee, K; Lee, RK; Lehmann, J; Lenon, A; Leonardi, M; Leroy, N; Letendre, N; Levin, Y; Li, J; Li, KJL; Li, TGF; Li, X; Lin, CY; Lin, F; Lin, FL; Lin, LCC; Linde, F; Linker, SD; Littenberg, TB; Liu, GC; Liu, J; Liu, X; Lo, RKL; Lockerbie, NA; London, LT; Longo, A; Lorenzini, M; Loriette, V; Lormand, M; Losurdo, G; Lough, JD; Lousto, CO; Lovelace, G; Lower, ME; Lueck, H; Lumaca, D; Lundgren, AP; Luo, LW; Lynch, R; Ma, Y; Macas, R; Macfoy, S; MacInnis, M; Macleod, DM; Macquet, A; Magana-Sandoval, F; Zertuche, LM; Magee, RM; Majorana, E; Maksimovic, I; Malik, A; Man, N; Mandic, V; Mangano, V; Mansell, GL; Manske, M; Mantovani, M; Marchesoni, F; Marchio, M; Marion, F; Marka, S; Marka, Z; Markakis, C; Markosyan, AS; Markowitz, A; Maros, E; Marquina, A; Marsat, S; Martelli, F; Martin, IW; Martin, RM; Martynov, DV; Mason, K; Massera, E; Masserot, A; Massinger, TJ; Masso-Reid, M; Mastrogiovanni, S; Matas, A; Matichard, F; Matone, L; Mavalvala, N; Mazumder, N; McCann, JJ; McCarthy, R; McClelland, DE; McCormick, S; McCuller, L; McGuire, SC; McIver, J; McManus, DJ; McRae, T; McWilliams, ST; Meacher, D; Meadors, GD; Mehmet, M; Mehta, AK; Meidam, J; Melatos, A; Mendell, G; Mercer, RA; Mereni, L; Merilh, EL; Merzougui, M; Meshkov, S; Messenger, C; Messick, C; Metzdorff, R; Meyers, PM; Miao, H; Michel, C; Michimura, Y; Middleton, H; Mikhailov, EE; Milano, L; Miller, AL; Miller, A; Millhouse, M; Mills, JC; Milovich-Goff, MC; Minazzoli, O; Minenkov, Y; Mio, N; Mishkin, A; Mishra, C; Mistry, T; Mitra, S; Mitrofanov, VP; Mitselmakher, G; Mittleman, R; Miyakawa, O; Miyamoto, A; Miyazaki, Y; Miyo, K; Miyoki, S; Mo, G; Moffa, D; Mogushi, K; Mohapatra, SRP; Montani, M; Moore, CJ; Moraru, D; Moreno, G; Morisaki, S; Moriwaki, Y; Mours, B; Mow-Lowry, CM; Mukherjee, A; Mukherjee, D; Mukherjee, S; Mukund, N; Mullavey, A; Munch, J; Muniz, EA; Muratore, M; Murray, PG; Nagano, K; Nagano, S; Nagar, A; Nakamura, K; Nakano, H; Nakano, M; Nakashima, R; Nardecchia, I; Narikawa, T; Naticchioni, L; Nayak, RK; Negishi, R; Neilson, J; Nelemans, G; Nelson, TJN; Nery, M; Neunzert, A; Ng, KY; Ng, S; Nguyen, P; Ni, WT; Nichols, D; Nishizawa, A; Nissanke, S; Nocera, F; North, C; Nuttall, LK; Obergaulinger, M; Oberling, J; O'Brien, BD; Obuchi, Y; O'Dea, GD; Ogaki, W; Ogin, GH; Oh, JJ; Oh, SH; Ohashi, M; Ohishi, N; Ohkawa, M; Ohme, F; Ohta, H; Okada, MA; Okutomi, K; Oliver, M; Oohara, K; Ooi, CP; Oppermann, P; Oram, RJ; O'Reilly, B; Ormiston, RG; Ortega, LF; O'Shaughnessy, R; Oshino, S; Ossokine, S; Ottaway, DJ; Overmier, H; Owen, BJ; Pace, AE; Pagano, G; Page, MA; Pai, A; Pai, SA; Palamos, JR; Palashov, O; Palomba, C; Pal-Singh, A; Pan, H-W; Pan, KC; Pang, B; Pang, HF; Pang, PTH; Pankow, C; Pannarale, F; Pant, BC; Paoletti, F; Paoli, A; Papa, MA; Parida, A; Park, J; Parker, W; Pascucci, D; Pasqualetti, A; Passaquieti, R; Passuello, D; Patil, M; Patricelli, B; Pearlstone, BL; Pedersen, C; Pedraza, M; Pedurand, R; Pele, A; Arellano, FEP; Penn, S; Perez, CJ; Perreca, A; Pfeiffer, HP; Phelps, M; Phukon, KS; Piccinni, OJ; Pichot, M; Piergiovanni, F; Pillant, G; Pinard, L; Pinto, I; Pirello, M; Pitkin, M; Poggiani, R; Pong, DYT; Ponrathnam, S; Popolizio, P; Porter, EK; Powell, J; Prajapati, AK; Prasad, J; Prasai, K; Prasanna, R; Pratten, G; Prestegard, T; Privitera, S; Prodi, GA; Prokhorov, LG; Puncken, O; Punturo, M; Puppo, P; Puerrer, M; Qi, H; Quetschke, V; Quinonez, PJ; Quintero, EA; Quitzow-James, R; Raab, FJ; Radkins, H; Radulescu, N; Raffai, P; Raja, S; Rajan, C; Rajbhandari, B; Rakhmanov, M; Ramirez, KE; Ramos-Buades, A; Rana, J; Rao, K; Rapagnani, P; Raymond, V; Razzano, M; Read, J; Regimbau, T; Rei, L; Reid, S; Reitze, DH; Ren, W; Ricci, F; Richardson, CJ; Richardson, JW; Ricker, PM; Riles, K; Rizzo, M; Robertson, NA; Robie, R; Robinet, F; Rocchi, A; Rolland, L; Rollins, JG; Roma, VJ; Romanelli, M; Romano, R; Romel, CL; Romie, JH; Rose, K; Rosinska, D; Rosofsky, SG; Ross, MP; Rowan, S; Ruediger, A; Ruggi, P; Rutins, G; Ryan, K; Sachdev, S; Sadecki, T; Sago, N; Saito, S; Saito, Y; Sakai, K; Sakai, Y; Sakamoto, H; Sakellariadou, M; Sakuno, Y; Salconi, L; Saleem, M; Samajdar, A; Sammut, L; Sanchez, EJ; Sanchez, LE; Sanchis-Gual, N; Sandberg, V; Sanders, JR; Santiago, KA; Sarin, N; Sassolas, B; Sathyaprakash, BS; Sato, S; Sato, T; Sauter, O; Savage, RL; Sawada, T; Schale, P; Scheel, M; Scheuer, J; Schmidt, P; Schnabel, R; Schofield, RMS; Schoenbeck, A; Schreiber, E; Schulte, BW; Schutz, BF; Schwalbe, SG; Scott, J; Scott, SM; Seidel, E; Sekiguchi, T; Sekiguchi, Y; Sellers, D; Sengupta, AS; Sennett, N; Sentenac, D; Sequino, V; Sergeev, A; Setyawati, Y; Shaddock, DA; Shaffer, T; Shahriar, MS; Shaner, MB; Shao, L; Sharma, P; Shawhan, P; Shen, H; Shibagaki, S; Shimizu, R; Shimoda, T; Shimode, K; Shink, R; Shinkai, H; Shishido, T; Shoda, A; Shoemaker, DH; Shoemaker, DM; ShyamSundar, S; Siellez, K; Sieniawska, M; Sigg, D; Silva, AD; Singer, LP; Singh, N; Singhal, A; Sintes, AM; Sitmukhambetov, S; Skliris, V; Slagmolen, BJJ; Slaven-Blair, TJ; Smith, JR; Smith, RJE; Somala, S; Somiya, K; Son, EJ; Sorazu, B; Sorrentino, F; Sotani, H; Souradeep, T; Sowell, E; Spencer, AP; Srivastava, AK; Srivastava, V; Staats, K; Stachie, C; Standke, M; Steer, DA; Steinke, M; Steinlechner, J; Steinlechner, S; Steinmeyer, D; Stevenson, SP; Stocks, D; Stone, R; Stops, DJ; Strain, KA; Stratta, G; Strigin, SE; Strunk, A; Sturani, R; Stuver, AL; Sudhir, V; Sugimoto, R; Summerscales, TZ; Sun, L; Sunil, S; Suresh, J; Sutton, PJ; Suzuki, T; Suzuki, T; Swinkels, BL; Szczepanczyk, MJ; Tacca, M; Tagoshi, H; Tait, SC; Takahashi, H; Takahashi, R; Takamori, A; Takano, S; Takeda, H; Takeda, M; Talbot, C; Talukder, D; Tanaka, H; Tanaka, K; Tanaka, K; Tanaka, T; Tanaka, T; Tanioka, S; Tanner, DB; Tapai, M; Martin, ENTS; Taracchini, A; Tasson, JD; Taylor, R; Telada, S; Thies, F; Thomas, M; Thomas, P; Thondapu, SR; Thorne, KA; Thrane, E; Tiwari, S; Tiwari, S; Tiwari, V; Toland, K; Tomaru, T; Tomigami, Y; Tomura, T; Tonelli, M; Tornasi, Z; Torres-Forne, A; Torrie, CI; Toyra, D; Travasso, F; Traylor, G; Tringali, MC; Trovato, A; Trozzo, L; Trudeau, R; Tsang, KW; Tsang, TTL; Tse, M; Tso, R; Tsubono, K; Tsuchida, S; Tsukada, L; Tsuna, D; Tsuzuki, T; Tuyenbayev, D; Uchikata, N; Uchiyama, T; Ueda, A; Uehara, T; Ueno, K; Ueshima, G; Ugolini, D; Unnikrishnan, CS; Uraguchi, F; Urban, AL; Ushiba, T; Usman, SA; Vahlbruch, H; Vajente, G; Valdes, G; Bakel, NV; Beuzekom, MV; Brand, JFJVD; Broeck, CVD; Vander-Hyde, DC; Schaaf, LVD; Heijningen, JVV; Putten, MHPMV; Veggel, AAV; Vardaro, M; Varma, V; Vass, S; Vasuth, M; Vecchio, A; Vedovato, G; Veitch, J; Veitch, PJ; Venkateswara, K; Venugopalan, G; Verkindt, D; Vetrano, F; Vicere, A; Viets, AD; Vine, DJ; Vinet, J-Y; Vitale, S; Vivanco, FH; Vo, T; Vocca, H; Vorvick, C; Vyatchanin, SP; Wade, AR; Wade, LE; Wade, M; Walet, R; Walker, M; Wallace, L; Walsh, S; Wang, G; Wang, H; Wang, J; Wang, JZ; Wang, WH; Wang, YF; Ward, RL; Warden, ZA; Warner, J; Was, M; Watchi, J; Weaver, B; Wei, L-W; Weinert, M; Weinstein, AJ; Weiss, R; Wellmann, F; Wen, L; Wessel, EK; Wessels, P; Westhouse, JW; Wette, K; Whelan, JT; Whiting, BF; Whittle, C; Wilken, DM; Williams, D; Williamson, AR; Willis, JL; Willke, B; Wimmer, MH; Winkler, W; Wipf, CC; Wittel, H; Woan, G; Woehler, J; Wofford, JK; Worden, J; Wright, JL; Wu, CM; Wu, DS; Wu, HC; Wu, SR; Wysocki, DM; Xiao, L; Xu, WR; Yamada, T; Yamamoto, H; Yamamoto, K; Yamamoto, K; Yamamoto, T; Yancey, CC; Yang, L; Yap, MJ; Yazback, M; Yeeles, DW; Yokogawa, K; Yokoyama, J; Yokozawa, T; Yoshioka, T; Yu, H; Yu, H; Yuen, SHR; Yuzurihara, H; Yvert, M; Zadrozny, AK; Zanolin, M; Zeidler, S; Zelenova, T; Zendri, J-P; Zevin, M; Zhang, J; Zhang, L; Zhang, T; Zhao, C; Zhao, Y; Zhou, M; Zhou, Z; Zhu, XJ; Zhu, ZH; Zimmerman, AB; Zucker, ME; Zweizig, J 2020-09-28 Prospects for observing and localizing gravitational-wave transients with Advanced LIGO, Advanced Virgo and KAGRA We present our current best estimate of the plausible observing scenarios for the Advanced LIGO, Advanced Virgo and KAGRA gravitational-wave detectors over the next several years, with the intention of providing information to facilitate planning for multi-messenger astronomy with gravitational waves. We estimate the sensitivity of the network to transient gravitational-wave signals for the third (O3), fourth (O4) and fifth observing (O5) runs, including the planned upgrades of the Advanced LIGO and Advanced Virgo detectors. We study the capability of the network to determine the sky location of the source for gravitational-wave signals from the inspiral of binary systems of compact objects, that is binary neutron star, neutron star–black hole, and binary black hole systems. The ability to localize the sources is given as a sky-area probability, luminosity distance, and comoving volume. The median sky localization area (90% credible region) is expected to be a few hundreds of square degrees for all types of binary systems during O3 with the Advanced LIGO and Virgo (HLV) network. The median sky localization area will improve to a few tens of square degrees during O4 with the Advanced LIGO, Virgo, and KAGRA (HLVK) network. During O3, the median localization volume (90% credible region) is expected to be on the order of 105,106,107 Mpc3 for binary neutron star, neutron star–black hole, and binary black hole systems, respectively. The localization volume in O4 is expected to be about a factor two smaller than in O3. We predict a detection count of 1+12−1(10+52−10) for binary neutron star mergers, of 0+19−0(1+91−1) for neutron star–black hole mergers, and 17+22−11(79+89−44) for binary black hole mergers in a one-calendar-year observing run of the HLV network during O3 (HLVK network during O4). We evaluate sensitivity and localization expectations for unmodeled signal searches, including the search for intermediate mass black hole binary mergers. Journal Article

Single-subject grey matter network trajectories over the disease course of autosomal dominant Alzheimer's disease

Wed, 01 Jan 2020 00:00:00 GMT

Vermunt, L; Dicks, E; Wang, G; Dincer, A; Flores, S; Keefe, SJ; Berman, SB; Cash, DM; Chhatwal, JP; Cruchaga, C; Fox, NC; Ghetti, B; Graff-Radford, NR; Hassenstab, J; Karch, CM; Laske, C; Levin, J; Masters, CL; McDade, E; Mori, H; Morris, JC; Noble, JM; Perrin, RJ; Schofield, PR; Xiong, C; Scheltens, P; Visser, PJ; Bateman, RJ; Benzinger, TLS; Tijms, BM; Gordon, BA 2020-01-01 Single-subject grey matter network trajectories over the disease course of autosomal dominant Alzheimer's disease Structural grey matter covariance networks provide an individual quantification of morphological patterns in the brain. The network integrity is disrupted in sporadic Alzheimer's disease, and network properties show associations with the level of amyloid pathology and cognitive decline. Therefore, these network properties might be disease progression markers. However, it remains unclear when and how grey matter network integrity changes with disease progression. We investigated these questions in autosomal dominant Alzheimer's disease mutation carriers, whose conserved age at dementia onset allows individual staging based upon their estimated years to symptom onset. From the Dominantly Inherited Alzheimer Network observational cohort, we selected T1-weighted MRI scans from 269 mutation carriers and 170 non-carriers (mean age 38 ± 15 years, mean estimated years to symptom onset -9 ± 11), of whom 237 had longitudinal scans with a mean follow-up of 3.0 years. Single-subject grey matter networks were extracted, and we calculated for each individual the network properties which describe the network topology, including the size, clustering, path length and small worldness. We determined at which time point mutation carriers and non-carriers diverged for global and regional grey matter network metrics, both cross-sectionally and for rate of change over time. Based on cross-sectional data, the earliest difference was observed in normalized path length, which was decreased for mutation carriers in the precuneus area at 13 years and on a global level 12 years before estimated symptom onset. Based on longitudinal data, we found the earliest difference between groups on a global level 6 years before symptom onset, with a greater rate of decline of network size for mutation carriers. We further compared grey matter network small worldness with established biomarkers for Alzheimer disease (i.e. amyloid accumulation, cortical thickness, brain metabolism and cognitive function). We found that greater amyloid accumulation at baseline was associated with faster decline of small worldness over time, and decline in grey matter network measures over time was accompanied by decline in brain metabolism, cortical thinning and cognitive decline. In summary, network measures decline in autosomal dominant Alzheimer's disease, which is alike sporadic Alzheimer's disease, and the properties show decline over time prior to estimated symptom onset. These data suggest that single-subject networks properties obtained from structural MRI scans form an additional non-invasive tool for understanding the substrate of cognitive decline and measuring progression from preclinical to severe clinical stages of Alzheimer's disease. Journal Article

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

Tue, 16 Jun 2020 00:00:00 GMT

Liu, J; van der Smissen, WJCP; Collee, JM; Bolla, MK; Wang, Q; Michailidou, K; Dennis, J; Ahearn, TU; Aittomaki, K; Ambrosone, CB; Andrulis, IL; Anton-Culver, H; Antonenkova, NN; Arndt, V; Arnold, N; Aronson, KJ; Augustinsson, A; Auvinen, P; Becher, H; Beckmann, MW; Behrens, S; Bermisheva, M; Bernstein, L; Bogdanova, N; Bogdanova-Markov, N; Bojesen, SE; Brauch, H; Brenner, H; Briceno, I; Brucker, SY; Bruening, T; Burwinkel, B; Cai, Q; Cai, H; Campa, D; Canzian, F; Castelao, JE; Chang-Claude, J; Chanock, SJ; Choi, J-Y; Christiaens, M; Clarke, CL; Couch, FJ; Czene, K; Daly, MB; Devilee, P; dos-Santos-Silva, I; Dwek, M; Eccles, DM; Eliassen, AH; Fasching, PA; Figueroa, J; Flyger, H; Fritschi, L; Gago-Dominguez, M; Gapstur, SM; Garcia-Closas, M; Garcia-Saenz, JA; Gaudet, MM; Giles, GG; Goldberg, MS; Goldgar, DE; Guenel, P; Haiman, CA; Hakansson, N; Hall, P; Harrington, PA; Hart, SN; Hartman, M; Hillemanns, P; Hopper, JL; Hou, M-F; Hunter, DJ; Huo, D; Ito, H; Iwasaki, M; Jakimovska, M; Jakubowska, A; John, EM; Kaaks, R; Kang, D; Keeman, R; Khusnutdinova, E; Kim, S-W; Kraft, P; Kristensen, VN; Kurian, AW; Le Marchand, L; Li, J; Lindblom, A; Lophatananon, A; Luben, RN; Lubinski, J; Mannermaa, A; Manoochehri, M; Manoukian, S; Margolin, S; Mariapun, S; Matsuo, K; Maurer, T; Mavroudis, D; Meindl, A; Menon, U; Milne, RL; Muir, K; Mulligan, AM; Neuhausen, SL; Nevanlinna, H; Offit, K; Olopade, O; Olson, JE; Olsson, H; Orr, N; Park, SK; Peterlongo, P; Peto, J; Plaseska-Karanfilska, D; Presneau, N; Rack, B; Rau-Murthy, R; Rennert, G; Rennert, HS; Rhenius, V; Romero, A; Ruebner, M; Saloustros, E; Schmutzler, RK; Schneeweiss, A; Scott, C; Shah, M; Shen, C-Y; Shu, X-O; Simard, J; Sohn, C; Southey, MC; Spinelli, JJ; Tamimi, RM; Tapper, WJ; Teo, SH; Terry, MB; Torres, D; Truong, T; Untch, M; Vachon, CM; van Asperen, CJ; Wolk, A; Yamaji, T; Zheng, W; Ziogas, A; Ziv, E; Torres-Mejia, G; Doerk, T; Swerdlow, AJ; Hamann, U; Schmidt, MK; Dunning, AM; Pharoah, PDP; Easton, DF; Hooning, MJ; Martens, JWM; Hollestelle, A 2020-06-16 Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk In breast cancer, high levels of homeobox protein Hox-B13 (HOXB13) have been associated with disease progression of ER-positive breast cancer patients and resistance to tamoxifen treatment. Since HOXB13 p.G84E is a prostate cancer risk allele, we evaluated the association between HOXB13 germline mutations and breast cancer risk in a previous study consisting of 3,270 familial non-BRCA1/2 breast cancer cases and 2,327 controls from the Netherlands. Although both recurrent HOXB13 mutations p.G84E and p.R217C were not associated with breast cancer risk, the risk estimation for p.R217C was not very precise. To provide more conclusive evidence regarding the role of HOXB13 in breast cancer susceptibility, we here evaluated the association between HOXB13 mutations and increased breast cancer risk within 81 studies of the international Breast Cancer Association Consortium containing 68,521 invasive breast cancer patients and 54,865 controls. Both HOXB13 p.G84E and p.R217C did not associate with the development of breast cancer in European women, neither in the overall analysis (OR = 1.035, 95% CI = 0.859-1.246, P = 0.718 and OR = 0.798, 95% CI = 0.482-1.322, P = 0.381 respectively), nor in specific high-risk subgroups or breast cancer subtypes. Thus, although involved in breast cancer progression, HOXB13 is not a material breast cancer susceptibility gene. Journal Article

Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk

Mon, 01 Mar 2021 00:00:00 GMT

Kapoor, PM; Mavaddat, N; Choudhury, PP; Wilcox, AN; Lindstrom, S; Behrens, S; Michailidou, K; Dennis, J; Bolla, MK; Wang, Q; Jung, A; Abu-Ful, Z; Ahearn, T; Andrulis, IL; Anton-Culver, H; Arndt, V; Aronson, KJ; Auer, PL; Freeman, LEB; Becher, H; Beckmann, MW; Beeghly-Fadiel, A; Benitez, J; Bernstein, L; Bojesen, SE; Brauch, H; Brenner, H; Bruening, T; Cai, Q; Campa, D; Canzian, F; Carracedo, A; Carter, BD; Castelao, JE; Chanock, SJ; Chatterjee, N; Chenevix-Trench, G; Clarke, CL; Couch, FJ; Cox, A; Cross, SS; Czene, K; Dai, JY; Earp, HS; Ekici, AB; Eliassen, AH; Eriksson, M; Evans, DG; Fasching, PA; Figueroa, J; Fritschi, L; Gabrielson, M; Gago-Dominguez, M; Gao, C; Gapstur, SM; Gaudet, MM; Giles, GG; Gonzalez-Neira, A; Guenel, P; Haeberle, L; Haiman, CA; Hakansson, N; Hall, P; Hamann, U; Hatse, S; Heyworth, J; Holleczek, B; Hoover, RN; Hopper, JL; Howell, A; Hunter, DJ; John, EM; Jones, ME; Kaaks, R; Keeman, R; Kitahara, CM; Ko, Y-D; Koutros, S; Kurian, AW; Lambrechts, D; Le Marchand, L; Lee, E; Lejbkowicz, F; Linet, M; Lissowska, J; Llaneza, A; MacInnis, RJ; Martinez, ME; Maurer, T; McLean, C; Neuhausen, SL; Newman, WG; Norman, A; O'Brien, KM; Olshan, AF; Olson, JE; Olsson, H; Orr, N; Perou, CM; Pita, G; Polley, EC; Prentice, RL; Rennert, G; Rennert, HS; Ruddy, KJ; Sandler, DP; Saunders, C; Schoemaker, MJ; Schoettker, B; Schumacher, F; Scott, C; Scott, RJ; Shu, X-O; Smeets, A; Southey, MC; Spinelli, JJ; Stone, J; Swerdlow, AJ; Tamimi, RM; Taylor, JA; Troester, MA; Vachon, CM; van Veen, EM; Wang, X; Weinberg, CR; Weltens, C; Willett, W; Winham, SJ; Wolk, A; Yang, XR; Zheng, W; Ziogas, A; Dunning, AM; Pharoah, PDP; Schmidt, MK; Kraft, P; Easton, DF; Milne, RL; Garcia-Closas, M; Chang-Claude, J 2021-03-01 Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk We evaluated the joint associations between a new 313-variant PRS (PRS313) and questionnaire-based breast cancer risk factors for women of European ancestry, using 72 284 cases and 80 354 controls from the Breast Cancer Association Consortium. Interactions were evaluated using standard logistic regression and a newly developed case-only method for breast cancer risk overall and by estrogen receptor status. After accounting for multiple testing, we did not find evidence that per-standard deviation PRS313 odds ratio differed across strata defined by individual risk factors. Goodness-of-fit tests did not reject the assumption of a multiplicative model between PRS313 and each risk factor. Variation in projected absolute lifetime risk of breast cancer associated with classical risk factors was greater for women with higher genetic risk (PRS313 and family history) and, on average, 17.5% higher in the highest vs lowest deciles of genetic risk. These findings have implications for risk prevention for women at increased risk of breast cancer. Journal Article

Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study.

Tue, 01 Jan 2019 00:00:00 GMT

Jansen, AC; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; D'Amato, L; Beaure d'Augères, G; de Vries, PJ; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Marques, R; Nabbout, R; O'Callaghan, F; Qin, J; Sander, V; Sauter, M; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Kingswood, JC 2019 Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study. The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in TSC2. Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in TSC2. Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in TSC2. Journal Article