المؤلفون: Tobias, Deirdre K, Merino, Jordi, Ahmad, Abrar, Aiken, Catherine, Benham, Jamie L, Bodhini, Dhanasekaran, Clark, Amy L, Colclough, Kevin, Corcoy, Rosa, Cromer, Sara J, Duan, Daisy, Felton, Jamie L, Francis, Ellen C, Gillard, Pieter, Gingras, Véronique, Gaillard, Romy, Haider, Eram, Hughes, Alice, Ikle, Jennifer M, Jacobsen, Laura M, Kahkoska, Anna R, Kettunen, Jarno LT, Kreienkamp, Raymond J, Lim, Lee-Ling, Männistö, Jonna ME, Massey, Robert, Mclennan, Niamh-Maire, Miller, Rachel G, Morieri, Mario Luca, Most, Jasper, Naylor, Rochelle N, Ozkan, Bige, Patel, Kashyap Amratlal, Pilla, Scott J, Prystupa, Katsiaryna, Raghavan, Sridharan, Rooney, Mary R, Schön, Martin, Semnani-Azad, Zhila, Sevilla-Gonzalez, Magdalena, Svalastoga, Pernille, Takele, Wubet Worku, Tam, Claudia Ha-ting, Thuesen, Anne Cathrine B, Tosur, Mustafa, Wallace, Amelia S, Wang, Caroline C, Wong, Jessie J, Yamamoto, Jennifer M, Young, Katherine, Amouyal, Chloé, Andersen, Mette K, Bonham, Maxine P, Chen, Mingling, Cheng, Feifei, Chikowore, Tinashe, Chivers, Sian C, Clemmensen, Christoffer, Dabelea, Dana, Dawed, Adem Y, Deutsch, Aaron J, Dickens, Laura T, DiMeglio, Linda A, Dudenhöffer-Pfeifer, Monika, Evans-Molina, Carmella, Fernández-Balsells, María Mercè, Fitipaldi, Hugo, Fitzpatrick, Stephanie L, Gitelman, Stephen E, Goodarzi, Mark O, Grieger, Jessica A, Guasch-Ferré, Marta, Habibi, Nahal, Hansen, Torben, Huang, Chuiguo, Harris-Kawano, Arianna, Ismail, Heba M, Hoag, Benjamin, Johnson, Randi K, Jones, Angus G, Koivula, Robert W, Leong, Aaron, Leung, Gloria KW, Libman, Ingrid M, Liu, Kai, Long, S Alice, Lowe, William L, Morton, Robert W, Motala, Ayesha A, Onengut-Gumuscu, Suna, Pankow, James S, Pathirana, Maleesa, Pazmino, Sofia, Perez, Dianna, Petrie, John R, Powe, Camille E, Quinteros, Alejandra, Jain, Rashmi, Ray, Debashree, Ried-Larsen, Mathias

المصدر: Nature Medicine. 29(10)

مصطلحات موضوعية: Health Services and Systems, Biomedical and Clinical Sciences, Health Sciences, Health Services, Diabetes, Clinical Research, Pediatric, Metabolic and endocrine, Good Health and Well Being, Humans, Precision Medicine, Consensus, Diabetes Mellitus, Evidence-Based Medicine, Medical and Health Sciences, Immunology, Biomedical and clinical sciences, Health sciences

الوصف: Precision medicine is part of the logical evolution of contemporary evidence-based medicine that seeks to reduce errors and optimize outcomes when making medical decisions and health recommendations. Diabetes affects hundreds of millions of people worldwide, many of whom will develop life-threatening complications and die prematurely. Precision medicine can potentially address this enormous problem by accounting for heterogeneity in the etiology, clinical presentation and pathogenesis of common forms of diabetes and risks of complications. This second international consensus report on precision diabetes medicine summarizes the findings from a systematic evidence review across the key pillars of precision medicine (prevention, diagnosis, treatment, prognosis) in four recognized forms of diabetes (monogenic, gestational, type 1, type 2). These reviews address key questions about the translation of precision medicine research into practice. Although not complete, owing to the vast literature on this topic, they revealed opportunities for the immediate or near-term clinical implementation of precision diabetes medicine; furthermore, we expose important gaps in knowledge, focusing on the need to obtain new clinically relevant evidence. Gaps include the need for common standards for clinical readiness, including consideration of cost-effectiveness, health equity, predictive accuracy, liability and accessibility. Key milestones are outlined for the broad clinical implementation of precision diabetes medicine.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/43n7x223Test

المؤلفون: Tobias, Deirdre K., Merino, Jordi, Ahmad, Abrar, Aiken, Catherine, Benham, Jamie L., Bodhini, Dhanasekaran, Clark, Amy L., Colclough, Kevin, Corcoy, Rosa, Cromer, Sara J., Duan, Daisy, Felton, Jamie L., Francis, Ellen C., Gillard, Pieter, Gingras, Véronique, Gaillard, Romy, Haider, Eram, Hughes, Alice, Ikle, Jennifer M., Jacobsen, Laura M., Kahkoska, Anna R., Kettunen, Jarno L.T., Kreienkamp, Raymond J., Lim, Lee Ling, Männistö, Jonna M.E., Massey, Robert, Mclennan, Niamh Maire, Miller, Rachel G., Morieri, Mario Luca, Most, Jasper, Naylor, Rochelle N., Ozkan, Bige, Patel, Kashyap Amratlal, Pilla, Scott J., Prystupa, Katsiaryna, Raghavan, Sridharan, Rooney, Mary R., Schön, Martin, Semnani-Azad, Zhila, Sevilla-Gonzalez, Magdalena, Svalastoga, Pernille, Takele, Wubet Worku, Tam, Claudia Ha ting, Thuesen, Anne Cathrine B., Tosur, Mustafa, Wallace, Amelia S., Wang, Caroline C., Wong, Jessie J., Yamamoto, Jennifer M., Young, Katherine, Amouyal, Chloé, Bonham, Maxine P., Chen, Mingling, Cheng, Feifei, Chikowore, Tinashe, Chivers, Sian C., Clemmensen, Christoffer, Dabelea, Dana, Dawed, Adem Y., Deutsch, Aaron J., Dickens, Laura T., DiMeglio, Linda A., Dudenhöffer-Pfeifer, Monika, Evans-Molina, Carmella, Fernández-Balsells, María Mercè, Fitipaldi, Hugo, Fitzpatrick, Stephanie L., Gitelman, Stephen E., Goodarzi, Mark O., Grieger, Jessica A., Guasch-Ferré, Marta, Habibi, Nahal, Hansen, Torben, Huang, Chuiguo, Harris-Kawano, Arianna, Ismail, Heba M., Hoag, Benjamin, Johnson, Randi K., Jones, Angus G., Koivula, Robert W., Leong, Aaron, Leung, Gloria K.W., Libman, Ingrid M., Liu, Kai, Long, S. Alice, Lowe, William L., Morton, Robert W., Motala, Ayesha A., Onengut-Gumuscu, Suna, Pankow, James S., Pathirana, Maleesa, Pazmino, Sofia, Perez, Dianna, Petrie, John R., Powe, Camille E., Quinteros, Alejandra, Jain, Rashmi, Ray, Debashree, Ried-Larsen, Mathias, Saeed, Zeb, Santhakumar, Vanessa, Kanbour, Sarah, Sarkar, Sudipa, Monaco, Gabriela S.F., Scholtens, Denise M., Selvin, Elizabeth, Sheu, Wayne Huey Herng, Speake, Cate, Stanislawski, Maggie A., Steenackers, Nele, Steck, Andrea K., Stefan, Norbert, Støy, Julie, Taylor, Rachael, Tye, Sok Cin, Ukke, Gebresilasea Gendisha, Urazbayeva, Marzhan, Van der Schueren, Bart, Vatier, Camille, Wentworth, John M., Hannah, Wesley, White, Sara L., Yu, Gechang, Zhang, Yingchai, Zhou, Shao J., Beltrand, Jacques, Polak, Michel, Aukrust, Ingvild, de Franco, Elisa, Flanagan, Sarah E., Maloney, Kristin A., McGovern, Andrew, Molnes, Janne, Nakabuye, Mariam, Njølstad, Pål Rasmus, Pomares-Millan, Hugo, Provenzano, Michele, Saint-Martin, Cécile, Zhang, Cuilin, Zhu, Yeyi, Auh, Sungyoung, de Souza, Russell, Fawcett, Andrea J., Gruber, Chandra, Mekonnen, Eskedar Getie, Mixter, Emily, Sherifali, Diana, Eckel, Robert H., Nolan, John J., Philipson, Louis H., Brown, Rebecca J., Billings, Liana K., Boyle, Kristen, Costacou, Tina, Dennis, John M., Florez, Jose C., Gloyn, Anna L., Gomez, Maria F., Gottlieb, Peter A., Greeley, Siri Atma W., Griffin, Kurt, Hattersley, Andrew T., Hirsch, Irl B., Hivert, Marie France, Hood, Korey K., Josefson, Jami L., Kwak, Soo Heon, Laffel, Lori M., Lim, Siew S., Loos, Ruth J.F., Ma, Ronald C.W., Mathieu, Chantal, Mathioudakis, Nestoras, Meigs, James B., Misra, Shivani, Mohan, Viswanathan, Murphy, Rinki, Oram, Richard, Owen, Katharine R., Ozanne, Susan E., Pearson, Ewan R., Perng, Wei, Pollin, Toni I., Pop-Busui, Rodica, Pratley, Richard E., Redman, Leanne M., Redondo, Maria J., Reynolds, Rebecca M., Semple, Robert K., Sherr, Jennifer L., Sims, Emily K., Sweeting, Arianne, Tuomi, Tiinamaija, Udler, Miriam S., Vesco, Kimberly K., Vilsbøll, Tina, Rich, Stephen S., Franks, Paul W.

المساهمون: HUS Abdominal Center, Institute for Molecular Medicine Finland, Endokrinologian yksikkö, Centre of Excellence in Complex Disease Genetics, Tiinamaija Tuomi Research Group, Clinicum

مصطلحات موضوعية: 3121 General medicine, internal medicine and other clinical medicine

الوصف: Precision medicine is part of the logical evolution of contemporary evidence-based medicine that seeks to reduce errors and optimize outcomes when making medical decisions and health recommendations. Diabetes affects hundreds of millions of people worldwide, many of whom will develop life-threatening complications and die prematurely. Precision medicine can potentially address this enormous problem by accounting for heterogeneity in the etiology, clinical presentation and pathogenesis of common forms of diabetes and risks of complications. This second international consensus report on precision diabetes medicine summarizes the findings from a systematic evidence review across the key pillars of precision medicine (prevention, diagnosis, treatment, prognosis) in four recognized forms of diabetes (monogenic, gestational, type 1, type 2). These reviews address key questions about the translation of precision medicine research into practice. Although not complete, owing to the vast literature on this topic, they revealed opportunities for the immediate or near-term clinical implementation of precision diabetes medicine; furthermore, we expose important gaps in knowledge, focusing on the need to obtain new clinically relevant evidence. Gaps include the need for common standards for clinical readiness, including consideration of cost-effectiveness, health equity, predictive accuracy, liability and accessibility. Key milestones are outlined for the broad clinical implementation of precision diabetes medicine. ; Peer reviewed

وصف الملف: application/pdf

العلاقة: We thank P. Siming (Department of Clinical Sciences, Lund University, Malmö, Sweden) for administrative support and M. Björklund and K. Aronsson (Faculty of Medicine Library, Lund University, Sweden) for Covidence support. We thank L. Schwingshackl (University of Freiburg, Germany) for advice on systematic review methods and ADA for administrative support. Funding: The ADA/EASD Precision Diabetes Medicine Initiative, within which this work was conducted, has received the following support: The Covidence license was funded by Lund University, Sweden (PI: P.W. Franks) for which technical support was provided by M. Björklund and K. Aronsson (Faculty of Medicine Library, Lund University, Sweden). Administrative support was provided by Lund University (Malmö, Sweden), University of Chicago (IL, USA) and the American Diabetes Association (Washington DC, USA). The Novo Nordisk Foundation (Hellerup, Denmark) provided grant support for in-person consensus meetings (PI: L. Phillipson, University of Chicago, IL, USA). The opinions expressed herein do not necessarily reflect those of the American Diabetes Association, the European Association for the Study of Diabetes, Novo Nordisk Foundation, National Institutes of Health (NIH), or any other society, institute, or foundation. J. Merino was partially supported by funding from the American Diabetes Association (award no. 7-21-JDFM-005) and the NIH (grant nos. P30 DK40561 and UG1 HD107691); S.J.C. is supported by a Junior Faculty Development Award from the American Diabetes Association (award no. 7-21-JDFM-005); D. Duan is supported by NIH grant no. K23DK133690; E.C.F. received grant support from NIH/NICHD grant no. K99108272-02 and NIH/NHLBI grant no. R25HL146166-05; J.M.I. was supported by NIH (grant no. K08 DK133676-01); A.R.K. is supported by the National Center for Advancing Translational Sciences, NIH, through grant no. KL2TR002490. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. A.R.K. also reports receiving research grants from the Diabetes Research Connection and the American Diabetes Association, and a research prize from the National Academy of Medicine, outside the submitted work; R.J.K. is supported by NIGMS grant no. T32GM774844 and Pediatric Endocrine Society Rising Star Award; N.-M.M. is supported by grants from the NIDDK (grant nos. R01DK125780 and R01DK134955); M.L.M. is supported by the Italian Ministry of Health grant no. GR-2019-12369702; R.N.N. was supported by ADA grant nos. 7-22-ICTSPM-17, R01DK104942 and U54DK118612; B.O. is supported by American Heart Association (grant no. 20SFRN35120152); K.A.P. is funded by the Wellcome Trust (grant no. 219606/Z/19/Z) and the National Institute for Health Research (NIHR) Exeter Biomedical Research Centre, Exeter, UK; S.J.P. was supported by the National Institute of Diabetes and Digestive and Kidney Diseases (grant no. K23DK128572); S.R. is funded by US Department of Veterans Affairs Award no. IK2-CX001907 and a Webb-Waring Biomedical Research Award from the Boettcher Foundation; M.S.-G. is supported by the American Diabetes Association (grant no. 9-22-PDFPM-04) and NIH (grant no. 5UM1DK078616-14); W.W.T. has received funding from the Monash Graduate and International Tuition Scholarship and the Australian Government Research Training Program Scholarship; M.T. is supported by grant no. K23-DK129821 from NIH/NIDDK; A.S.W. is supported by NIH/NHLBI grant no. T32HL007024; M.C. has received funding from the Monash Graduate and International Tuition Scholarship and the Australian Government Research Training Program Scholarship; T.C. is an international training fellow supported by the Wellcome Trust (grant no. 214205/Z/18/Z); S.C.C. is funded by Diabetes UK Sir George Alberti fellowship (grant no. 21/0006277); A.J.D. is supported by NIH/NIDDK grant no. T32DK007028; S.E.G. currently receives research funding from the NIH: NIDDK (TrialNet, grant no. 2U01DK106993-02) and NIAID (Immune Tolerance Network, grant no. FY20ITN372), and from Provention Bio; M.O.G. is supported by the Eris M. Field Chair in Diabetes Research and NIH grant no. P30-DK063491; J.A.G. is supported by a NHMRC Ideas Grant (APP: 2000905); H.M.I. was supported by NIH/NIDDK grant no. K23DK129799; Pilot and Feasibility Award, CDMD, NIH/NIDDK grant no. P30 DK097512; grant no. 2021258 from the Doris Duke Charitable Foundation through the COVID-19 Fund to Retain Clinical Scientists collaborative grant program and grant no. 62288 from the John Templeton Foundation; R.K.J. is funded by NIH grant no. R03-DK127472 and The Leona M. and Harry B. Helmsley Charitable Trust (grant no. 2103-05094); A.L. is supported by grant no. 2020096 from the Doris Duke Foundation and the American Diabetes Association grant no. 7-22-ICTSPM-23; D.R. is supported by NIH/NIDDK grant no. R21DK125888 and other grants from the NIH; E.S. is supported by NIH/NHLBI grant no. K24 HL152440 and other grants from the NIH; W.H.-H.S. obtained funding from NHRI, Taiwan (grant nos. MG-112-PP-18 and MG-112-PP-19); M.A.S. is supported by NIH grant no. K01/NHLBI HL157658; G.G.U. is funded by the Monash Graduate Scholarship and Monash International Tuition Scholarship; J.M.W is funded by NHMRC Ideas Grant; S.L.W. is supported by a research grant no. MR/W003740/1 from the Medical Research Council; J.B. is funded by the Intramural Research Program of the National Institute of Diabetes and Digestive and Kidney Diseases; E.D.F. is a Diabetes UK RD Lawrence Fellow (19/005971); S.E.F. has a Wellcome Trust Senior Research Fellowship (grant no. 223187/Z/21/Z); K.A.M. was supported by NIH grant no. U54DK118612 and NIH/NICHD grant no. U24HD093486; J. Molnes is funded by the Norwegian Diabetes Association; P.R.N. was supported by grants from the European Research Council (grant no. 293574), the Trond Mohn Foundation (Mohn Center for Diabetes Precision Medicine, grant no. TMS2022TMT01), the Research Council of Norway (grant no. 240413) and the Novo Nordisk Foundation (grant no. 54741); T.C. was supported by grant nos. R01HL130153 and R01DK034818; J.M.D. is supported by Research England’s Expanding Excellence in England (E3) fund; J.C.F. is supported by NIH grant no. K24 HL157960; A.L.G. is a Wellcome Trust Senior Fellow (200837/Z/16/Z) and is also supported by NIDDK (award no. UM-1DK126185); M.F.G. is supported by the Swedish Heart-Lung Foundation (grant no. 20190470), Swedish Research Council (EXODIAB, grant nos. 2009-1039 and 2018-02837), Swedish Foundation for Strategic Research (LUDC-IRC, grant no. 15-0067) and EU H2020-JTI-lMl2-2015-05 (grant agreement no. 115974 - BEAt-DKD); M.-F.H. was supported by the American Diabetes Association Pathways Award no. 1-15-ACE-26; J.L.J. is funded by the NIH (grant no. 5R01DK118403); L.M.L. is supported by National Institute of Healths grant no. P30DK036836; S.S.L. is funded by the Australian National Health and Medical Research Council (NHMRC) Fellowship; C.C., J. Merino, A.C.B.T., M.K.A., M.G.-F., T.H. and R.J.F.L. acknowledge that The Novo Nordisk Foundation Center for Basic Metabolic Research is supported by and unrestricted grant from the Novo Nordisk Foundation (grant no. NNF18CC0034900); R.C.W.M. acknowledges support from the Research Grants Council of the Hong Kong Special Administrative Region (grant no. CU R4012-18), the Croucher Foundation Senior Medical Research Fellowship and University Grants Committee Research Grants Matching Scheme and Research Committee Postdoctoral Fellowship Scheme of the Chinese University of Hong Kong; J.B.M. reports funding from NIH grant nos. U01 DK078616 and R01 HL151855; S.M. has a personal award from Wellcome Trust Career Development scheme (grant no. 223024/Z/21/Z) and is supported by the NIHR Imperial Biomedical Research Centre; K.R.O. is supported by the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC). The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, or the Department of Health; S.E.O. is funded by the British Heart Foundation (grant no. RG/17/12/33167) and the Medical Research Council (grant no. MC_UU_00014/4); T.I.P. was supported by NIH grant nos. U54DK118612, NIH/NICHD U24HD093486 and NIH/NHGRI U01HG007775; L.M.R. is funded by the National Institute of Health (grant no. 5R01DK124806); relevant funding for M.J.R. includes NIH grant no. R01 DK124395 and NIH grant no. 1 R01 DK121843-01; R.M.R. acknowledges the support of the British Heart Foundation (grant no. RE/18/5/34216); T.T. is supported by The Folkhalsan Research Foundation and The Academy of Finland/University of Helsinki (grant nos. 312072 and 336826); M.S.U. is supported by an NIH grant no. K23DK114551 and the Doris Duke Foundation Clinical Scientist Development Award; S.S.R. is supported by NIH/NIDDK grant no. R01DK122586 and other grants from the NIH; P.W.F. is supported by research grants from the European Commission (grant no. ERC-CoG_NASCENT-681742) and the Swedish Research Council (grant nos. 2014-03529 and 2019-01348).; Tobias , D K , Merino , J , Ahmad , A , Aiken , C , Benham , J L , Bodhini , D , Clark , A L , Colclough , K , Corcoy , R , Cromer , S J , Duan , D , Felton , J L , Francis , E C , Gillard , P , Gingras , V , Gaillard , R , Haider , E , Hughes , A , Ikle , J M , Jacobsen , L M , Kahkoska , A R , Kettunen , J L T , Kreienkamp , R J , Lim , L L , Männistö , J M E , Massey , R , Mclennan , N M , Miller , R G , Morieri , M L , Most , J , Naylor , R N , Ozkan , B , Patel , K A , Pilla , S J , Prystupa , K , Raghavan , S , Rooney , M R , Schön , M , Semnani-Azad , Z , Sevilla-Gonzalez , M , Svalastoga , P , Takele , W W , Tam , C H T , Thuesen , A C B , Tosur , M , Wallace , A S , Wang , C C , Wong , J J , Yamamoto , J M , Young , K , Amouyal , C , Bonham , M P , Chen , M , Cheng , F , Chikowore , T , Chivers , S C , Clemmensen , C , Dabelea , D , Dawed , A Y , Deutsch , A J , Dickens , L T , DiMeglio , L A , Dudenhöffer-Pfeifer , M , Evans-Molina , C , Fernández-Balsells , M M , Fitipaldi , H , Fitzpatrick , S L , Gitelman , S E , Goodarzi , M O , Grieger , J A , Guasch-Ferré , M , Habibi , N , Hansen , T , Huang , C , Harris-Kawano , A , Ismail , H M , Hoag , B , Johnson , R K , Jones , A G , Koivula , R W , Leong , A , Leung , G K W , Libman , I M , Liu , K , Long , S A , Lowe , W L , Morton , R W , Motala , A A , Onengut-Gumuscu , S , Pankow , J S , Pathirana , M , Pazmino , S , Perez , D , Petrie , J R , Powe , C E , Quinteros , A , Jain , R , Ray , D , Ried-Larsen , M , Saeed , Z , Santhakumar , V , Kanbour , S , Sarkar , S , Monaco , G S F , Scholtens , D M , Selvin , E , Sheu , W H H , Speake , C , Stanislawski , M A , Steenackers , N , Steck , A K , Stefan , N , Støy , J , Taylor , R , Tye , S C , Ukke , G G , Urazbayeva , M , Van der Schueren , B , Vatier , C , Wentworth , J M , Hannah , W , White , S L , Yu , G , Zhang , Y , Zhou , S J , Beltrand , J , Polak , M , Aukrust , I , de Franco , E , Flanagan , S E , Maloney , K A , McGovern , A , Molnes , J , Nakabuye , M , Njølstad , P R , Pomares-Millan , H , Provenzano , M , Saint-Martin , C , Zhang , C , Zhu , Y , Auh , S , de Souza , R , Fawcett , A J , Gruber , C , Mekonnen , E G , Mixter , E , Sherifali , D , Eckel , R H , Nolan , J J , Philipson , L H , Brown , R J , Billings , L K , Boyle , K , Costacou , T , Dennis , J M , Florez , J C , Gloyn , A L , Gomez , M F , Gottlieb , P A , Greeley , S A W , Griffin , K , Hattersley , A T , Hirsch , I B , Hivert , M F , Hood , K K , Josefson , J L , Kwak , S H , Laffel , L M , Lim , S S , Loos , R J F , Ma , R C W , Mathieu , C , Mathioudakis , N , Meigs , J B , Misra , S , Mohan , V , Murphy , R , Oram , R , Owen , K R , Ozanne , S E , Pearson , E R , Perng , W , Pollin , T I , Pop-Busui , R , Pratley , R E , Redman , L M , Redondo , M J , Reynolds , R M , Semple , R K , Sherr , J L , Sims , E K , Sweeting , A , Tuomi , T , Udler , M S , Vesco , K K , Vilsbøll , T , Rich , S S & Franks , P W 2023 , ' Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine ' , Nature Medicine , vol. 29 , no. 10 , pp. 2438-2457 . https://doi.org/10.1038/s41591-023-02502-5Test; ORCID: /0000-0002-8306-6202/work/147915772; ORCID: /0000-0002-9995-698X/work/147917835; 85173437266; e0702ace-bdba-40bb-a426-ff47f56ce55c; http://hdl.handle.net/10138/570781Test; 001085074500001

الإتاحة: http://hdl.handle.net/10138/570781Test

المؤلفون: Semnani-Azad, Zhila, Gaillard, Romy, Hughes, Alice E., Boyle, Kristen E., Tobias, Deirdre K., Merino, Jordi, Ahmad, Abrar, Aiken, Catherine, Benham, Jamie L., Bodhini, Dhanasekaran, Clark, Amy L., Colclough, Kevin, Corcoy, Rosa, Cromer, Sara J., Duan, Daisy, Felton, Jamie L., Francis, Ellen C., Gillard, Pieter, Gingras, Véronique, Haider, Eram, Hughes, Alice, Ikle, Jennifer M., Jacobsen, Laura M., Kahkoska, Anna R., Kettunen, Jarno L. T., Kreienkamp, Raymond J., Lim, Lee-Ling, Männistö, Jonna M. E., Massey, Robert, Mclennan, Niamh-Maire, Miller, Rachel G., Morieri, Mario Luca, Most, Jasper, Naylor, Rochelle N., Ozkan, Bige, Patel, Kashyap Amratlal, Pilla, Scott J., Prystupa, Katsiaryna, Raghavan, Sridharan, Rooney, Mary R., Schön, Martin, Sevilla-Gonzalez, Magdalena, Svalastoga, Pernille, Takele, Wubet Worku, Tam, Claudia Ha-ting, Thuesen, Anne Cathrine B., Tosur, Mustafa, Wallace, Amelia S.

المساهمون: Canadian Institutes of Health Research (CIHR) Fellowship

المصدر: Communications Medicine ; volume 4, issue 1 ; ISSN 2730-664X

الوصف: Background The objective of this systematic review is to identify prognostic factors among women and their offspring affected by gestational diabetes mellitus (GDM), focusing on endpoints of cardiovascular disease (CVD) and type 2 diabetes (T2D) for women, and cardiometabolic profile for offspring. Methods This review included studies published in English language from January 1st, 1990, through September 30th, 2021, that focused on the above outcomes of interest with respect to sociodemographic factors, lifestyle and behavioral characteristics, traditional clinical traits, and ‘omics biomarkers in the mothers and offspring during the perinatal/postpartum periods and across the lifecourse. Studies that did not report associations of prognostic factors with outcomes of interest among GDM-exposed women or children were excluded. Results Here, we identified 109 publications comprising 98 observational studies and 11 randomized-controlled trials. Findings indicate that GDM severity, maternal obesity, race/ethnicity, and unhealthy diet and physical activity levels predict T2D and CVD in women, and greater cardiometabolic risk in offspring. However, using the Diabetes Canada 2018 Clinical Practice Guidelines for studies, the level of evidence was low due to potential for confounding, reverse causation, and selection biases. Conclusions GDM pregnancies with greater severity, as well as those accompanied by maternal obesity, unhealthy diet, and low physical activity, as well as cases that occur among women who identify as racial/ethnic minorities are associated with worse cardiometabolic prognosis in mothers and offspring. However, given the low quality of evidence, prospective studies with detailed covariate data collection and high fidelity of follow-up are warranted.

الإتاحة: https://doi.org/10.1038/s43856-023-00427-1Test
https://www.nature.com/articles/s43856-023-00427-1.pdfTest
https://www.nature.com/articles/s43856-023-00427-1Test

المؤلفون: Tobias, Deirdre K., Merino, Jordi, Ahmad, Abrar, Aiken, Catherine, Benham, Jamie L., Bodhini, Dhanasekaran, Clark, Amy L., Colclough, Kevin, Corcoy, Rosa, Cromer, Sara J., Duan, Daisy, Felton, Jamie L., Francis, Ellen C., Gillard, Pieter, Gingras, Véronique, Gaillard, Romy, Haider, Eram, Hughes, Alice, Ikle, Jennifer M., Jacobsen, Laura M., Kahkoska, Anna R., Kettunen, Jarno L.T., Kreienkamp, Raymond J., Lim, Lee Ling, Männistö, Jonna M.E., Massey, Robert, Mclennan, Niamh Maire, Miller, Rachel G., Morieri, Mario Luca, Most, Jasper, Naylor, Rochelle N., Ozkan, Bige, Patel, Kashyap Amratlal, Pilla, Scott J., Prystupa, Katsiaryna, Raghavan, Sridharan, Rooney, Mary R., Schön, Martin, Semnani-Azad, Zhila, Sevilla-Gonzalez, Magdalena, Svalastoga, Pernille, Takele, Wubet Worku, Tam, Claudia Ha ting, Thuesen, Anne Cathrine B., Tosur, Mustafa, Wallace, Amelia S., Wang, Caroline C., Wong, Jessie J., Yamamoto, Jennifer M., Young, Katherine, Amouyal, Chloé, Andersen, Mette K., Bonham, Maxine P., Chen, Mingling, Cheng, Feifei, Chikowore, Tinashe, Chivers, Sian C., Clemmensen, Christoffer, Dabelea, Dana, Dawed, Adem Y., Deutsch, Aaron J., Dickens, Laura T., DiMeglio, Linda A., Dudenhöffer-Pfeifer, Monika, Evans-Molina, Carmella, Fernández-Balsells, María Mercè, Fitipaldi, Hugo, Fitzpatrick, Stephanie L., Gitelman, Stephen E., Goodarzi, Mark O., Grieger, Jessica A., Guasch-Ferré, Marta, Habibi, Nahal, Hansen, Torben, Huang, Chuiguo, Harris-Kawano, Arianna, Ismail, Heba M., Hoag, Benjamin, Johnson, Randi K., Jones, Angus G., Koivula, Robert W., Leong, Aaron, Leung, Gloria K.W., Libman, Ingrid M., Liu, Kai, Long, S. Alice, Lowe, William L., Morton, Robert W., Motala, Ayesha A., Onengut-Gumuscu, Suna, Pankow, James S., Pathirana, Maleesa, Pazmino, Sofia, Perez, Dianna, Petrie, John R., Powe, Camille E., Quinteros, Alejandra, Jain, Rashmi, Ray, Debashree, Ried-Larsen, Mathias, Saeed, Zeb, Santhakumar, Vanessa, Kanbour, Sarah, Sarkar, Sudipa, Monaco, Gabriela S.F., Scholtens, Denise M., Selvin, Elizabeth, Sheu, Wayne Huey Herng, Speake, Cate, Stanislawski, Maggie A., Steenackers, Nele, Steck, Andrea K., Stefan, Norbert, Støy, Julie, Taylor, Rachael, Tye, Sok Cin, Ukke, Gebresilasea Gendisha, Urazbayeva, Marzhan, Van der Schueren, Bart, Vatier, Camille, Wentworth, John M., Hannah, Wesley, White, Sara L., Yu, Gechang, Zhang, Yingchai, Zhou, Shao J., Beltrand, Jacques, Polak, Michel, Aukrust, Ingvild, de Franco, Elisa, Flanagan, Sarah E., Maloney, Kristin A., McGovern, Andrew, Molnes, Janne, Nakabuye, Mariam, Njølstad, Pål Rasmus, Pomares-Millan, Hugo, Provenzano, Michele, Saint-Martin, Cécile, Zhang, Cuilin, Zhu, Yeyi, Auh, Sungyoung, de Souza, Russell, Fawcett, Andrea J., Gruber, Chandra, Mekonnen, Eskedar Getie, Mixter, Emily, Sherifali, Diana, Eckel, Robert H., Nolan, John J., Philipson, Louis H., Brown, Rebecca J., Billings, Liana K., Boyle, Kristen, Costacou, Tina, Dennis, John M., Florez, Jose C., Gloyn, Anna L., Gomez, Maria F., Gottlieb, Peter A., Greeley, Siri Atma W., Griffin, Kurt, Hattersley, Andrew T., Hirsch, Irl B., Hivert, Marie France, Hood, Korey K., Josefson, Jami L., Kwak, Soo Heon, Laffel, Lori M., Lim, Siew S., Loos, Ruth J.F., Ma, Ronald C.W., Mathieu, Chantal, Mathioudakis, Nestoras, Meigs, James B., Misra, Shivani, Mohan, Viswanathan, Murphy, Rinki, Oram, Richard, Owen, Katharine R., Ozanne, Susan E., Pearson, Ewan R., Perng, Wei, Pollin, Toni I., Pop-Busui, Rodica, Pratley, Richard E., Redman, Leanne M., Redondo, Maria J., Reynolds, Rebecca M., Semple, Robert K., Sherr, Jennifer L., Sims, Emily K., Sweeting, Arianne, Tuomi, Tiinamaija, Udler, Miriam S., Vesco, Kimberly K., Vilsbøll, Tina, Wagner, Robert, Rich, Stephen S., Franks, Paul W.

المصدر: Tobias , D K , Merino , J , Ahmad , A , Aiken , C , Benham , J L , Bodhini , D , Clark , A L , Colclough , K , Corcoy , R , Cromer , S J , Duan , D , Felton , J L , Francis , E C , Gillard , P , Gingras , V , Gaillard , R , Haider , E , Hughes , A , Ikle , J M , Jacobsen , L M , Kahkoska , A R , Kettunen , J L T , ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

الوصف: Precision medicine is part of the logical evolution of contemporary evidence-based medicine that seeks to reduce errors and optimize outcomes when making medical decisions and health recommendations. Diabetes affects hundreds of millions of people worldwide, many of whom will develop life-threatening complications and die prematurely. Precision medicine can potentially address this enormous problem by accounting for heterogeneity in the etiology, clinical presentation and pathogenesis of common forms of diabetes and risks of complications. This second international consensus report on precision diabetes medicine summarizes the findings from a systematic evidence review across the key pillars of precision medicine (prevention, diagnosis, treatment, prognosis) in four recognized forms of diabetes (monogenic, gestational, type 1, type 2). These reviews address key questions about the translation of precision medicine research into practice. Although not complete, owing to the vast literature on this topic, they revealed opportunities for the immediate or near-term clinical implementation of precision diabetes medicine; furthermore, we expose important gaps in knowledge, focusing on the need to obtain new clinically relevant evidence. Gaps include the need for common standards for clinical readiness, including consideration of cost-effectiveness, health equity, predictive accuracy, liability and accessibility. Key milestones are outlined for the broad clinical implementation of precision diabetes medicine.

العلاقة: https://pure.eur.nl/en/publications/38186c7b-73a5-4ce7-a6a7-9a2e128f663cTest

الإتاحة: https://doi.org/10.1038/s41591-023-02502-5Test
https://pure.eur.nl/en/publications/38186c7b-73a5-4ce7-a6a7-9a2e128f663cTest
http://www.scopus.com/inward/record.url?scp=85173437266&partnerID=8YFLogxKTest

المؤلفون: Rooney, Mary, R, Chen, Jingsha, Ballantyne, Christie, M, Hoogeveen, Ron, C, Tang, Olive, Grams, Morgan, E, Tin, Adrienne, Ndumele, Chiadi, E, Zannad, Faiez, Couper, David, J, Tang, Weihong, Selvin, Elizabeth, Coresh, Josef

المساهمون: Johns Hopkins Bloomberg School of Public Health Baltimore, Johns Hopkins University (JHU), Baylor College of Medicine (BCM), Baylor University, University of Mississippi Medical Center (UMMC), Défaillance Cardiovasculaire Aiguë et Chronique (DCAC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Centre d'investigation clinique plurithématique Pierre Drouin Nancy (CIC-P), Centre d'investigation clinique Nancy (CIC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Cardiovascular and Renal Clinical Trialists Vandoeuvre-les-Nancy (INI-CRCT), Institut Lorrain du Coeur et des Vaisseaux Louis Mathieu Nancy, French-Clinical Research Infrastructure Network - F-CRIN Paris (Cardiovascular & Renal Clinical Trialists - CRCT ), University of North Carolina Chapel Hill (UNC), University of North Carolina System (UNC), University of Minnesota Twin Cities (UMN), University of Minnesota System (UMN), The Atherosclerosis Risk in Communities study has been funded in whole or in part with Federal funds from the National Heart, Lung, and Blood Institute, National Institutes of Health, Department of Health and Human Services, under Contract nos. (75N92022D00001, 75N92022D00002, 75N92022D00003, 75N92022D00004, 75N92022D00005). Research reported in this publication was supported by the NIH/NHLBI grants T32HL007024 (Rooney), K24HL152440 (Selvin), R01-HL134320 (Ballantyne and Selvin), R01-HL146907 (Ndumele), NIH/NIDDK grant R01DK089174 (Selvin), and the American Heart Association grant 20SFRN35120152. The research leading to these results has received funding from the European Union Commission’s Seventh Framework Programme under grant agreement No. 305507 (HOMAGE Heart Omics in Ageing consortium )., European Project: 305507

المصدر: ISSN: 0009-9147.

مصطلحات موضوعية: [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system

الوصف: International audience ; Background The plasma proteome can be quantified using different types of highly multiplexed technologies, including aptamer-based and proximity-extension immunoassay methods. There has been limited characterization of how these protein measurements correlate across platforms and with absolute measures from targeted immunoassays. Methods We assessed the comparability of (a) highly multiplexed aptamer-based (SomaScan v4; Somalogic) and proximity-extension immunoassay (OLINK Proseek® v5003; Olink) methods in 427 Atherosclerosis Risk in Communities (ARIC) Study participants (Visit 5, 2011–2013), and (b) 18 of the SomaScan protein measurements against targeted immunoassays in 110 participants (55 cardiovascular disease cases, 55 controls). We calculated Spearman correlations (r) between the different measurements and compared associations with case-control status. Results There were 417 protein comparisons (366 unique proteins) between the SomaScan and Olink platforms. The average correlation was r = 0.46 (range: −0.21 to 0.97; 79 [19%] with r ≥ 0.8). For the comparison of SomaScan and targeted immunoassays, 6 of 18 assays (growth differentiation factor 15 [GDF15], interleukin-1 receptor-like 1 [ST2], interstitial collagenase [MMP1], adiponectin, leptin, and resistin) had good correlations (r ≥ 0.8), 2 had modest correlations (0.5 ≤ r < 0.8; osteopontin and interleukin-6 [IL6]), and 10 were poorly correlated (r <; 0.5; metalloproteinase inhibitor 1 [TIMP1], stromelysin-1 [MMP3], matrilysin [MMP7], C-C motif chemokine 2 [MCP1], interleukin-10 [IL10], vascular cell adhesion protein 1 [VCAM1], intercellular adhesion molecule 1 [ICAM1], interleukin-18 [IL18], tumor necrosis factor [TNFα], and visfatin) overall. Correlations for SomaScan and targeted immunoassays were similar according to case status. Conclusions There is variation in the quantitative measurements for many proteins across aptamer-based and proximity-extension immunoassays (approximately 1/2 showing good or modest ...

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36508319; info:eu-repo/grantAgreement//305507/EU/HOMAGE (Heart Omics in Ageing consortium)/; hal-03897803; https://hal.univ-lorraine.fr/hal-03897803Test; https://hal.univ-lorraine.fr/hal-03897803/documentTest; https://hal.univ-lorraine.fr/hal-03897803/file/Proteomics-ARIC.pdfTest; PUBMED: 36508319; PUBMEDCENTRAL: PMC9812856

الإتاحة: https://doi.org/10.1093/clinchem/hvac186Test
https://hal.univ-lorraine.fr/hal-03897803Test
https://hal.univ-lorraine.fr/hal-03897803/documentTest
https://hal.univ-lorraine.fr/hal-03897803/file/Proteomics-ARIC.pdfTest

المؤلفون: Misra, Shivani, Wagner, Robert, Ozkan, Bige, Schön, Martin, Sevilla-Gonzalez, Magdalena, Prystupa, Katsiaryna, Wang, Caroline C, Kreienkamp, Raymond J, Cromer, Sara J, Rooney, Mary R, Duan, Daisy, Thuesen, Anne Cathrine Baun, Wallace, Amelia S, Leong, Aaron, Deutsch, Aaron J, Andersen, Mette K, Billings, Liana K, Eckel, Robert H, Sheu, Wayne Huey-Herng, Hansen, Torben, Stefan, Norbert, Goodarzi, Mark O, Ray, Debashree, Selvin, Elizabeth, Florez, Jose C, ADA/EASD PMDI, Meigs, James B, Udler, Miriam S

مصطلحات موضوعية: ADA/EASD PMDI

الوصف: BACKGROUND: Heterogeneity in type 2 diabetes presentation and progression suggests that precision medicine interventions could improve clinical outcomes. We undertook a systematic review to determine whether strategies to subclassify type 2 diabetes were associated with high quality evidence, reproducible results and improved outcomes for patients. METHODS: We searched PubMed and Embase for publications that used 'simple subclassification' approaches using simple categorisation of clinical characteristics, or 'complex subclassification' approaches which used machine learning or 'omics approaches in people with established type 2 diabetes. We excluded other diabetes subtypes and those predicting incident type 2 diabetes. We assessed quality, reproducibility and clinical relevance of extracted full-text articles and qualitatively synthesised a summary of subclassification approaches. RESULTS: Here we show data from 51 studies that demonstrate many simple stratification approaches, but none have been replicated and many are not associated with meaningful clinical outcomes. Complex stratification was reviewed in 62 studies and produced reproducible subtypes of type 2 diabetes that are associated with outcomes. Both approaches require a higher grade of evidence but support the premise that type 2 diabetes can be subclassified into clinically meaningful subtypes. CONCLUSION: Critical next steps toward clinical implementation are to test whether subtypes exist in more diverse ancestries and whether tailoring interventions to subtypes will improve outcomes.

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/362324Test

الإتاحة: https://www.repository.cam.ac.uk/handle/1810/362324Test

المؤلفون: Misra, Shivani, Wagner, Robert, Ozkan, Bige, Schön, Martin, Sevilla-Gonzalez, Magdalena, Prystupa, Katsiaryna, Wang, Caroline C, Kreienkamp, Raymond J, Cromer, Sara J, Rooney, Mary R, Duan, Daisy, Thuesen, Anne Cathrine Baun, Wallace, Amelia S, Leong, Aaron, Deutsch, Aaron J, Andersen, Mette K, Billings, Liana K, Eckel, Robert H, Sheu, Wayne Huey-Herng, Hansen, Torben, Stefan, Norbert, Goodarzi, Mark O, Ray, Debashree, Selvin, Elizabeth, Florez, Jose C, Meigs, James B, Udler, Miriam S

المصدر: Misra , S , Wagner , R , Ozkan , B , Schön , M , Sevilla-Gonzalez , M , Prystupa , K , Wang , C C , Kreienkamp , R J , Cromer , S J , Rooney , M R , Duan , D , Thuesen , A C B , Wallace , A S , Leong , A , Deutsch , A J , Andersen , M K , Billings , L K , Eckel , R H , Sheu , W H-H , Hansen , T , Stefan , N , Goodarzi , M ....

الوصف: Background Heterogeneity in type 2 diabetes presentation and progression suggests that precision medicine interventions could improve clinical outcomes. We undertook a systematic review to determine whether strategies to subclassify type 2 diabetes were associated with high quality evidence, reproducible results and improved outcomes for patients. Methods We searched PubMed and Embase for publications that used ‘simple subclassification’ approaches using simple categorisation of clinical characteristics, or ‘complex subclassification’ approaches which used machine learning or ‘omics approaches in people with established type 2 diabetes. We excluded other diabetes subtypes and those predicting incident type 2 diabetes. We assessed quality, reproducibility and clinical relevance of extracted full-text articles and qualitatively synthesised a summary of subclassification approaches. Results Here we show data from 51 studies that demonstrate many simple stratification approaches, but none have been replicated and many are not associated with meaningful clinical outcomes. Complex stratification was reviewed in 62 studies and produced reproducible subtypes of type 2 diabetes that are associated with outcomes. Both approaches require a higher grade of evidence but support the premise that type 2 diabetes can be subclassified into clinically meaningful subtypes. Conclusion Critical next steps toward clinical implementation are to test whether subtypes exist in more diverse ancestries and whether tailoring interventions to subtypes will improve outcomes. ; BACKGROUND: Heterogeneity in type 2 diabetes presentation and progression suggests that precision medicine interventions could improve clinical outcomes. We undertook a systematic review to determine whether strategies to subclassify type 2 diabetes were associated with high quality evidence, reproducible results and improved outcomes for patients. METHODS: We searched PubMed and Embase for publications that used 'simple subclassification' approaches using simple ...

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/s43856-023-00360-3Test
https://curis.ku.dk/portal/da/publications/precision-subclassification-of-type-2-diabetesTest(cb11a562-8ece-479a-a470-458e49e516aa).html
https://curis.ku.dk/ws/files/379656935/s43856_023_00360_3.pdfTest

المؤلفون: Francis, Ellen C., Powe, Camille E., Lowe, William L., White, Sara L., Scholtens, Denise M., Yang, Jiaxi, Zhu, Yeyi, Zhang, Cuilin, Hivert, Marie-France, Kwak, Soo Heon, Sweeting, Arianne, Tobias, Deirdre K., Merino, Jordi, Ahmad, Abrar, Aiken, Catherine, Benham, Jamie L., Bodhini, Dhanasekaran, Clark, Amy L., Colclough, Kevin, Corcoy, Rosa, Cromer, Sara J., Duan, Daisy, Felton, Jamie L., Gillard, Pieter, Gingras, Véronique, Gaillard, Romy, Haider, Eram, Hughes, Alice, Ikle, Jennifer M., Jacobsen, Laura M., Kahkoska, Anna R., Kettunen, Jarno L. T., Kreienkamp, Raymond J., Lim, Lee-Ling, Männistö, Jonna M. E., Massey, Robert, Mclennan, Niamh-Maire, Miller, Rachel G., Morieri, Mario Luca, Most, Jasper, Naylor, Rochelle N., Ozkan, Bige, Patel, Kashyap Amratlal, Pilla, Scott J., Prystupa, Katsiaryna, Raghavan, Sridharan, Rooney, Mary R., Schön, Martin, Semnani-Azad, Zhila, Sevilla-Gonzalez, Magdalena

المساهمون: U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development, Robert Wood Johnson Foundation, U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases, RCUK | Medical Research Council, U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute, American Diabetes Association, U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute, Department of Health | National Health and Medical Research Council, Australian Diabetes Society

المصدر: Communications Medicine ; volume 3, issue 1 ; ISSN 2730-664X

الوصف: Background Perinatal outcomes vary for women with gestational diabetes mellitus (GDM). The precise factors beyond glycemic status that may refine GDM diagnosis remain unclear. We conducted a systematic review and meta-analysis of potential precision markers for GDM. Methods Systematic literature searches were performed in PubMed and EMBASE from inception to March 2022 for studies comparing perinatal outcomes among women with GDM. We searched for precision markers in the following categories: maternal anthropometrics, clinical/sociocultural factors, non-glycemic biochemical markers, genetics/genomics or other -omics, and fetal biometry. We conducted post-hoc meta-analyses of a subset of studies with data on the association of maternal body mass index (BMI, kg/m 2 ) with offspring macrosomia or large-for-gestational age (LGA). Results A total of 5905 titles/abstracts were screened, 775 full-texts reviewed, and 137 studies synthesized. Maternal anthropometrics were the most frequent risk marker. Meta-analysis demonstrated that women with GDM and overweight/obesity vs. GDM with normal range BMI are at higher risk of offspring macrosomia (13 studies [ n = 28,763]; odds ratio [OR] 2.65; 95% Confidence Interval [CI] 1.91, 3.68), and LGA (10 studies [ n = 20,070]; OR 2.23; 95% CI 2.00, 2.49). Lipids and insulin resistance/secretion indices were the most studied non-glycemic biochemical markers, with increased triglycerides and insulin resistance generally associated with greater risk of offspring macrosomia or LGA. Studies evaluating other markers had inconsistent findings as to whether they could be used as precision markers. Conclusions Maternal overweight/obesity is associated with greater risk of offspring macrosomia or LGA in women with GDM. Pregnancy insulin resistance or hypertriglyceridemia may be useful in GDM risk stratification. Future studies examining non-glycemic biochemical, genetic, other -omic, or sociocultural precision markers among women with GDM are warranted.

الإتاحة: https://doi.org/10.1038/s43856-023-00393-8Test
https://www.nature.com/articles/s43856-023-00393-8.pdfTest
https://www.nature.com/articles/s43856-023-00393-8Test

المؤلفون: Semple, Robert K., Patel, Kashyap A., Auh, Sungyoung, Tobias, Deirdre K., Merino, Jordi, Ahmad, Abrar, Aiken, Catherine, Benham, Jamie L., Bodhini, Dhanasekaran, Clark, Amy L., Colclough, Kevin, Corcoy, Rosa, Cromer, Sara J., Duan, Daisy, Felton, Jamie L., Francis, Ellen C., Gillard, Pieter, Gingras, Véronique, Gaillard, Romy, Haider, Eram, Hughes, Alice, Ikle, Jennifer M., Jacobsen, Laura M., Kahkoska, Anna R., Kettunen, Jarno L. T., Kreienkamp, Raymond J., Lim, Lee-Ling, Männistö, Jonna M. E., Massey, Robert, Mclennan, Niamh-Maire, Miller, Rachel G., Morieri, Mario Luca, Most, Jasper, Naylor, Rochelle N., Ozkan, Bige, Patel, Kashyap Amratlal, Pilla, Scott J., Prystupa, Katsiaryna, Raghaven, Sridaran, Rooney, Mary R., Schön, Martin, Semnani-Azad, Zhila, Sevilla-Gonzalez, Magdalena, Svalastoga, Pernille, Takele, Wubet Worku, Tam, Claudia Ha-ting, Thuesen, Anne Cathrine B., Tosur, Mustafa, Wallace, Amelia S., Wang, Caroline C.

المساهمون: Wellcome Trust, U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases, Lund University | Medicinska Fakulteten, Lunds Universitet, Novo Nordisk Foundation Center for Basic Metabolic Research

المصدر: Communications Medicine ; volume 3, issue 1 ; ISSN 2730-664X

الوصف: Background Monogenic insulin resistance (IR) includes lipodystrophy and disorders of insulin signalling. We sought to assess the effects of interventions in monogenic IR, stratified by genetic aetiology. Methods Systematic review using PubMed, MEDLINE and Embase (1 January 1987 to 23 June 2021). Studies reporting individual-level effects of pharmacologic and/or surgical interventions in monogenic IR were eligible. Individual data were extracted and duplicates were removed. Outcomes were analysed for each gene and intervention, and in aggregate for partial, generalised and all lipodystrophy. Results 10 non-randomised experimental studies, 8 case series, and 23 case reports meet inclusion criteria, all rated as having moderate or serious risk of bias. Metreleptin use is associated with the lowering of triglycerides and haemoglobin A1c (HbA1c) in all lipodystrophy ( n = 111), partial ( n = 71) and generalised lipodystrophy ( n = 41), and in LMNA , PPARG , AGPAT2 or BSCL2 subgroups ( n = 72,13,21 and 21 respectively). Body Mass Index (BMI) is lowered in partial and generalised lipodystrophy, and in LMNA or BSCL2 , but not PPARG or AGPAT2 subgroups. Thiazolidinediones are associated with improved HbA1c and triglycerides in all lipodystrophy ( n = 13), improved HbA1c in PPARG ( n = 5), and improved triglycerides in LMNA ( n = 7). In INSR -related IR, rhIGF-1, alone or with IGFBP3, is associated with improved HbA1c ( n = 17). The small size or absence of other genotype-treatment combinations preclude firm conclusions. Conclusions The evidence guiding genotype-specific treatment of monogenic IR is of low to very low quality. Metreleptin and Thiazolidinediones appear to improve metabolic markers in lipodystrophy, and rhIGF-1 appears to lower HbA1c in INSR-related IR. For other interventions, there is insufficient evidence to assess efficacy and risks in aggregated lipodystrophy or genetic subgroups.

الإتاحة: https://doi.org/10.1038/s43856-023-00368-9Test
https://www.nature.com/articles/s43856-023-00368-9.pdfTest
https://www.nature.com/articles/s43856-023-00368-9Test

المؤلفون: Murphy, Rinki, Colclough, Kevin, Pollin, Toni I., Ikle, Jennifer M., Svalastoga, Pernille, Maloney, Kristin A., Saint-Martin, Cécile, Molnes, Janne, Tobias, Deirdre K., Merino, Jordi, Ahmad, Abrar, Aiken, Catherine, Benham, Jamie L., Bodhini, Dhanasekaran, Clark, Amy L., Corcoy, Rosa, Cromer, Sara J., Duan, Daisy, Felton, Jamie L., Francis, Ellen C., Gillard, Pieter, Gingras, Véronique, Gaillard, Romy, Haider, Eram, Hughes, Alice, Jacobsen, Laura M., Kahkoska, Anna R., Kettunen, Jarno L. T., Kreienkamp, Raymond J., Lim, Lee-Ling, Männistö, Jonna M. E., Massey, Robert, Mclennan, Niamh-Maire, Miller, Rachel G., Morieri, Mario Luca, Most, Jasper, Naylor, Rochelle N., Ozkan, Bige, Patel, Kashyap Amratlal, Pilla, Scott J., Prystupa, Katsiaryna, Raghaven, Sridaran, Rooney, Mary R., Schön, Martin, Semnani-Azad, Zhila, Sevilla-Gonzalez, Magdalena, Takele, Wubet Worku, Tam, Claudia Ha-ting

المساهمون: Wellcome Trust

المصدر: Communications Medicine ; volume 3, issue 1 ; ISSN 2730-664X

الوصف: Background Monogenic diabetes presents opportunities for precision medicine but is underdiagnosed. This review systematically assessed the evidence for (1) clinical criteria and (2) methods for genetic testing for monogenic diabetes, summarized resources for (3) considering a gene or (4) variant as causal for monogenic diabetes, provided expert recommendations for (5) reporting of results; and reviewed (6) next steps after monogenic diabetes diagnosis and (7) challenges in precision medicine field. Methods Pubmed and Embase databases were searched (1990-2022) using inclusion/exclusion criteria for studies that sequenced one or more monogenic diabetes genes in at least 100 probands (Question 1), evaluated a non-obsolete genetic testing method to diagnose monogenic diabetes (Question 2). The risk of bias was assessed using the revised QUADAS-2 tool. Existing guidelines were summarized for questions 3-5, and review of studies for questions 6-7, supplemented by expert recommendations. Results were summarized in tables and informed recommendations for clinical practice. Results There are 100, 32, 36, and 14 studies included for questions 1, 2, 6, and 7 respectively. On this basis, four recommendations for who to test and five on how to test for monogenic diabetes are provided. Existing guidelines for variant curation and gene-disease validity curation are summarized. Reporting by gene names is recommended as an alternative to the term MODY. Key steps after making a genetic diagnosis and major gaps in our current knowledge are highlighted. Conclusions We provide a synthesis of current evidence and expert opinion on how to use precision diagnostics to identify individuals with monogenic diabetes.

الإتاحة: https://doi.org/10.1038/s43856-023-00369-8Test
https://www.nature.com/articles/s43856-023-00369-8.pdfTest
https://www.nature.com/articles/s43856-023-00369-8Test