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53. Improving outcomes of childhood and young adult non-Hodgkin lymphoma: 25 years of research and collaboration within the framework of the European Intergroup for Childhood Non-Hodgkin Lymphoma

Author

Beishuizen, Auke, Mellgren, Karin, Andrés, Mara, Auperin, Anne, Bacon, Chris M, Bomken, Simon, Burke, GA Amos, Burkhardt, Birgit, Brugieres, Laurence, Chiang, Alan KS, Damm-Welk, Christine, d'Amore, Emanuele, Horibe, Keizo, Kabickova, Edita, Khanam, Tasneem, Kontny, Udo, Klapper, Wolfram, Lamant, Laurence, Le Deley, Marie-Cecile, Loeffen, Jan, Macintyre, Elizabeth, Mann, Georg, Meyer-Wentrup, Friederike, Michgehl, Ulf, Minard-Colin, Veronique, Mussolin, Lara, Oschlies, Ilske, Patte, Catherine, Pillon, Marta, Reiter, Alfred, Rigaud, Charlotte, Roncery, Leila, Salaverria, Itziar, Simonitsch-Klupp, Ingrid, Uyttebroeck, Anne, Verdu-Amoros, Jaime, Williams, Denise, Woessmann, Wilhelm, Wotherspoon, Andrew, Wrobel, Grazyna, Zimmermann, Martin, Attarbaschi, Andishe, Turner, Suzanne D, European Intergroup for Childhood Non-Hodgkin Lymphoma, Turner, Suzanne [0000-0002-8439-4507], and Apollo - University of Cambridge Repository

Subjects
Europe, Young Adult, Lymphoma, Non-Hodgkin, Humans, Child
Abstract

The European Intergroup for Childhood Non-Hodgkin Lymphoma (EICNHL) was established 25 years ago with the goal to facilitate clinical trials and research collaborations in the field both within Europe and worldwide. Since its inception, much progress has been made whereby major improvements in outcomes have been achieved. In this Review, we describe the different diagnostic entities of non-Hodgkin lymphoma in children and young adults describing key features of each entity and outlining clinical achievements made in the context of the EICNHL framework. Furthermore, we provide an overview of advances in biopathology with an emphasis on the role of biological studies and how they have shaped available treatments. Finally, for each entity, we describe future goals, upcoming clinical trials, and highlight areas of research that require our focus going forward.

Published
2022
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58. Prevalence and architecture of de novo mutations in developmental disorders

Author

McRae, Jeremy F., Clayton, Stephen, Fitzgerald, Tomas W., Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M., Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D., King, Daniel, Krishnappa, Netravathi, Mason, Laura E., Singh, Tarjinder, Tivey, Adrian R., Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, Paul A., Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J., Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Cooper, Nicola, Cox, Helen, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D’Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus, Donaldson, Alan, Donnai, Dian, Donnelly, Deirdre, Donnelly, Carina, Douglas, Angela, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Ellis, Ian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Fendick, Tina, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fry, Andrew, Fryer, Alan, Gardiner, Carol, Gaunt, Lorraine, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Goodship, Judith, Goudie, David, Gray, Emma, Green, Andrew, Greene, Philip, Greenhalgh, Lynn, Gribble, Susan, Harrison, Rachel, Harrison, Lucy, Harrison, Victoria, Hawkins, Rose, He, Liu, Hellens, Stephen, Henderson, Alex, Hewitt, Sarah, Hildyard, Lucy, Hobson, Emma, Holden, Simon, Holder, Muriel, Holder, Susan, Hollingsworth, Georgina, Homfray, Tessa, Humphreys, Mervyn, Hurst, Jane, Hutton, Ben, Ingram, Stuart, Irving, Melita, Islam, Lily, Jackson, Andrew, Jarvis, Joanna, Jenkins, Lucy, Johnson, Diana, Jones, Elizabeth, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kelsell, Rosemary, Kerr, Bronwyn, Kingston, Helen, Kini, Usha, Kinning, Esther, Kirby, Gail, Kirk, Claire, Kivuva, Emma, Kraus, Alison, Kumar, Dhavendra, Ajith Kumar, V. K., Lachlan, Katherine, Lam, Wayne, Lampe, Anne, Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A., Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McCann, Emma, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, McKay, Kirsten, McKee, Shane, McMullan, Dominic J., McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny, Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea, Nevitt, Louise, Newbury-Ecob, Ruth, Norman, Andrew, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Park, Soo-Mi, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Phipps, Julie, Pilz, Daniela T., Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Price, Sue, Pridham, Abigail, Procter, Annie, Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Josh, Rankin, Julia, Raymond, Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Ann, Seller, Anneke, Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, Miranda, Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, Karen I., Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellåker, Chris, Parker, Michael, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R., Barrett, Jeffrey C., and Hurles, Matthew E.

Published
2017
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59. Exploring Women's Experiences and Family Role Shifts Superseding a Breast Cancer Diagnosis.

Author

Kadieva, Violeta Dimitrova, Williams, Denise Alicia Nicholas, Hernandez, Antonia, and Aguon, Nicolette

Subjects
*FAMILIES & psychology, *CANCER patient psychology, *FOCUS groups, *FAMILY support, *EXPERIENCE, *FAMILY roles, *ATTITUDES toward illness, *PSYCHOLOGY of women, *SOCIAL role change, *THEMATIC analysis, *BREAST tumors
Abstract

The purpose of this inquiry is to explore the family members' experience in a family with a breast cancer survivor. This study examined family role shifts. Our research originated from two focus groups with eight breast cancer survivors in each group. The study findings revealed coping as a core theme, which was represented by the main umbrella theme, "Ambiguous Terror" and 7 subcategories on the individual level and on the relational level by "Struggling Well is Relational" and 8 subcategories. Our findings contributed to filling a gap in the literature related to shifting roles and ways to support family members. [ABSTRACT FROM AUTHOR]

Published
2023
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62. sj-pdf-1-spr-10.1177_02654075211041657 – Supplemental Material for Emotional approach coping and daily support behavior in romantic relationships

Author

Austin, Kathryn W., Kane, Heidi S., Williams, Denise D., and Ackerman, Robert A.

Subjects
200199 Communication and Media Studies not elsewhere classified, FOS: Media and communications, FOS: Psychology, 170199 Psychology not elsewhere classified
Abstract

Supplemental Material, sj-pdf-1-spr-10.1177_02654075211041657 for Emotional approach coping and daily support behavior in romantic relationships by Kathryn W Austin, Heidi S Kane, Denise D William and Robert A Ackerman in Journal of Social and Personal Relationships

Published
2022
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63. Neuropsychiatric Risk in Children With Intellectual Disability of Genetic Origin: IMAGINE - The UK National Cohort Study

Author

Wolstencroft, Jeanne, primary, Wicks, Francesca, additional, Erwood, Marie, additional, srinivasan, ramya, additional, Lafont, Amy, additional, Timur, Husniye, additional, Ye, Zheng, additional, Walker, susan, additional, Printzlau, Frida, additional, Juj, Manoj, additional, Davies, Sarah, additional, Denver, Hayley, additional, Watkins, Alice, additional, Kerry, Eleanor, additional, Lucock, Anna, additional, Fatih, Nasratullay, additional, Wynn, Sarah, additional, Robertson, Lisa, additional, Berg, Jonathan, additional, Lampe, Anne, additional, Joss, Shelagh, additional, brennan, paul, additional, Kraus, alison, additional, weber, astrid, additional, Rawson, Myfanwy, additional, Johnson, diana, additional, vasudevan, pradeep, additional, harrison, rachel, additional, williams, denise, additional, Maher, Eamonn, additional, Kini, Usha, additional, Clowes, Virginia, additional, Gurasashvili, Jana, additional, mansour, sahar, additional, Holder-Espinasse, muriel, additional, Watford, Amy, additional, rankin, julia, additional, baralle, diana, additional, procter, annie, additional, Ford, Tamsin, additional, baker, kate, additional, chawners, Samuel, additional, Hall, Jeremy, additional, van den Bree, Marianne, additional, Owen, Michael, additional, Consortium, IMAGINE, additional, Skuse, David, additional, and Raymond, F. Lucy, additional

Published
2022
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69. Finding the Supervision Key of Therapists' Progress.

Author

Kadieva, Violeta D. and Williams, Denise N.

Subjects
*FAMILY psychotherapy, *TEACHER-student relationships, *MARRIAGE, *MOTIVATION (Psychology), *MULTIVARIATE analysis, *ABILITY, *TRAINING, *DESCRIPTIVE statistics, *ANALYSIS of covariance, *QUESTIONNAIRES, *STUDENT attitudes, *SUPERVISION of employees, *DATA analysis software
Abstract

The purpose of this study is to compare the differences between Marriage and Family Therapy (MFT) student perceptions of (a) types of praise used by MFT supervisors, (b) MFT students' self-theory of intelligence, and (c) MFT students' continued development of skills. Four hypotheses were tested stating that different types of praise used by MFT supervisors would have a significant effect on MFT supervisees' development of skills. Two MANCOVAs were performed, which revealed that therapists praised for their efforts significantly continued to improve their professional skills, while others praised for their ability significantly reduced their efforts in upgrading clinical skills. [ABSTRACT FROM AUTHOR]

Published
2023
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70. Children and adolescents with follicular lymphoma have an excellent prognosis with either limited chemotherapy or with a “watch and wait” strategy after complete resection

Author

Attarbaschi, Andishe, Beishuizen, Auke, Mann, Georg, Rosolen, Angelo, Mori, Tetsuya, Uyttebroeck, Anne, Niggli, Felix, Csoka, Monika, Krenova, Zdenka, Mellgren, Karin, Kabickova, Edita, Chiang, Alan KS, Reiter, Alfred, Williams, Denise, Burkhardt, Birgit, and on behalf of the European Intergroup for Childhood Non-Hodgkin Lymphoma (EICNHL) and the international Berlin-Frankfurt-Münster (i-BFM) Study Group

Published
2013
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72. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author

Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, McRae, Jeremy F., Clayton, Stephen, Fitzgerald, Tomas W., Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M., Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D., King, Daniel, Krishnappa, Netravathi, Mason, Laura E., Singh, Tarjinder, Tivey, Adrian R., Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A. Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J., Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Cooper, Nicola, Cox, Helen, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D’Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus, Donaldson, Alan, Donnai, Dian, Donnelly, Deirdre, Donnelly, Carina, Douglas, Angela, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Ellis, Ian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Fendick, Tina, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fry, Andrew, Fryer, Alan, Gardiner, Carol, Gaunt, Lorraine, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Goodship, Judith, Goudie, David, Gray, Emma, Green, Andrew, Greene, Philip, Greenhalgh, Lynn, Gribble, Susan, Harrison, Rachel, Harrison, Lucy, Harrison, Victoria, Hawkins, Rose, He, Liu, Hellens, Stephen, Henderson, Alex, Hewitt, Sarah, Hildyard, Lucy, Hobson, Emma, Holden, Simon, Holder, Muriel, Holder, Susan, Hollingsworth, Georgina, Homfray, Tessa, Humphreys, Mervyn, Hurst, Jane, Hutton, Ben, Ingram, Stuart, Irving, Melita, Islam, Lily, Jackson, Andrew, Jarvis, Joanna, Jenkins, Lucy, Johnson, Diana, Jones, Elizabeth, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kelsell, Rosemary, Kerr, Bronwyn, Kingston, Helen, Kini, Usha, Kinning, Esther, Kirby, Gail, Kirk, Claire, Kivuva, Emma, Kraus, Alison, Kumar, Dhavendra, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lampe, Anne, Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A., Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McCann, Emma, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, McKay, Kirsten, McKee, Shane, McMullan, Dominic J., McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny, Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea, Nevitt, Louise, Norman, Andrew, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Park, Soo-Mi, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Phipps, Julie, Pilz, Daniela T., Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Pridham, Abigail, Procter, Annie, Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Josh, Raymond, Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Ann, Seller, Anneke, Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, Miranda, Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, I. Karen, Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellåker, Chris, Parker, Michael, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., and Campeau, Philippe M.

Subjects
Male, Models, Molecular, Developmental Disabilities, Gene Expression, General Physics and Astronomy, 02 engineering and technology, Chromatin remodelling, Sociology, lcsh:Science, Independent research, Adenosine Triphosphatases, 0303 health sciences, Multidisciplinary, biology, Health innovation, Disease genetics, Published Erratum, Neurodevelopmental disorders, 021001 nanoscience & nanotechnology, Spelling, 3. Good health, Phenotype, General partnership, Child, Preschool, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Female, medicine.symptom, Construct (philosophy), 0210 nano-technology, Psychology, Mi-2 Nucleosome Remodeling and Deacetylase Complex, Clinical epigenetics, Genotype, Science, Mutation, Missense, Library science, Child health, Speech Disorders, General Biochemistry, Genetics and Molecular Biology, Domain (software engineering), 03 medical and health sciences, Protein Domains, Intellectual Disability, medicine, Humans, Author Correction, 030304 developmental biology, Research ethics, Language Disorders, Whole Genome Sequencing, Core Grant, Macrocephaly, DNA Helicases, Helicase, General Chemistry, Chromatin Assembly and Disassembly, Megalencephaly, HEK293 Cells, biology.protein, lcsh:Q, Neuroscience, Impaired speech
Abstract

An Author Correction to this article was published on 15 February 2019 An Author Correction to this article was published on 02 May 2019 We thank all individuals and families for their contribution. We thank Amaia Carrion Castillo and Else Eising for assistance with the WGS analysis of the index individual, and Sarah Graham and Elliot Sollis for cloning the wild-type CHD3 construct for immunofluorescence. This work was supported by the Netherlands Organization for Scientific Research (NWO) Gravitation Grant 24.001.006 to the Language in Interaction Consortium (L.S.B., S.E.F., and H.G.B.), the Max Planck Society (S.E.F.), the National Institute on Deafness and Other Communication Disorders Grant DC000496 (L.Sh.) and a core grant to the Waisman Center from the National Institute of Child Health and Human Development (Grant U54 HD090256) to L.Sh., the Canadian Institutes of Health Research Grants MOP-119595 and PJT-148830 to W.T.G. Individuals 11, 16, 24, and 28 were part of The DDD Study cohort. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund [Grant number HICF-1009-003], a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute [Grant number WT098051]. The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. The DDD study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12, granted by the Republic of Ireland REC). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network.

Published
2019

75. WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome

Author

Hu, Kun, primary, Zatyka, Malgorzata, additional, Astuti, Dewi, additional, Beer, Nicola, additional, Dias, Renuka P, additional, Kulkarni, Archana, additional, Ainsworth, John, additional, Wright, Benjamin, additional, Majander, Anna, additional, Yu-Wai-Man, Patrick, additional, Williams, Denise, additional, and Barrett, Timothy, additional

Published
2021
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77. The contribution of X-linked coding variation to severe developmental disorders

Author

Martin, Hilary C., Gardner, Eugene J., Samocha, Kaitlin E., Kaplanis, Joanna, Akawi, Nadia, Sifrim, Alejandro, Eberhardt, Ruth Y., Tavares, Ana Lisa Taylor, Neville, Matthew D. C., Niemi, Mari E. K., Gallone, Giuseppe, McRae, Jeremy, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E., Borras, Silvia, Clark, Caroline, Dean, John, Miedzybrodzka, Zosia, Ross, Alison, Tennant, Stephen, Dabir, Tabib, Donnelly, Deirdre, Humphreys, Mervyn, Magee, Alex, McConnell, Vivienne, McKee, Shane, McNerlan, Susan, Morrison, Patrick J., Rea, Gillian, Stewart, Fiona, Cole, Trevor, Cooper, Nicola, Cooper-Charles, Lisa, Cox, Helen, Islam, Lily, Jarvis, Joanna, Keelagher, Rebecca, Lim, Derek, McMullan, Dominic, Morton, Jenny, Naik, Swati, O’Driscoll, Mary, Ong, Kai-Ren, Osio, Deborah, Ragge, Nicola, Turton, Sarah, Vogt, Julie, Williams, Denise, Bodek, Simon, Donaldson, Alan, Hills, Alison, Low, Karen, Newbury-Ecob, Ruth, Norman, Andrew M., Roberts, Eileen, Scurr, Ingrid, Smithson, Sarah, Tooley, Madeleine, Abbs, Steve, Armstrong, Ruth, Dunn, Carolyn, Holden, Simon, Park, Soo-Mi, Paterson, Joan, Raymond, Lucy, Reid, Evan, Sandford, Richard, Simonic, Ingrid, Tischkowitz, Marc, Woods, Geoff, Bradley, Lisa, Comerford, Joanne, Green, Andrew, Lynch, Sally, McQuaid, Shirley, Mullaney, Brendan, Berg, Jonathan, Goudie, David, Mavrak, Eleni, McLean, Joanne, McWilliam, Catherine, Reavey, Eleanor, Azam, Tara, Cleary, Elaine, Jackson, Andrew, Lam, Wayne, Lampe, Anne, Moore, David, Porteous, Mary, Baple, Emma, Baptista, Júlia, Brewer, Carole, Castle, Bruce, Kivuva, Emma, Owens, Martina, Rankin, Julia, Shaw-Smith, Charles, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Bradley, Therese, Davidson, Rosemarie, Gardiner, Carol, Joss, Shelagh, Kinning, Esther, Longman, Cheryl, McGowan, Ruth, Murday, Victoria, Pilz, Daniela, Tobias, Edward, Whiteford, Margo, Williams, Nicola, Barnicoat, Angela, Clement, Emma, Faravelli, Francesca, Hurst, Jane, Jenkins, Lucy, Jones, Wendy, Kumar, V.K.Ajith, Lees, Melissa, Loughlin, Sam, Male, Alison, Morrogh, Deborah, Rosser, Elisabeth, Scott, Richard, Wilson, Louise, Beleza, Ana, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Irving, Melita, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Molenda, Aneta, Robert, Leema, Roworth, Wendy, Ruddy, Deborah, Ryten, Mina, Yau, Shu, Bennett, Christopher, Blyth, Moira, Campbell, Jennifer, Coates, Andrea, Dobbie, Angus, Hewitt, Sarah, Hobson, Emma, Jackson, Eilidh, Jewell, Rosalyn, Kraus, Alison, Prescott, Katrina, Sheridan, Eamonn, Thomson, Jenny, Bradshaw, Kirsty, Dixit, Abhijit, Eason, Jacqueline, Haines, Rebecca, Harrison, Rachel, Mutch, Stacey, Sarkar, Ajoy, Searle, Claire, Shannon, Nora, Sharif, Abid, Suri, Mohnish, Vasudevan, Pradeep, Canham, Natalie, Ellis, Ian, Greenhalgh, Lynn, Howard, Emma, Stinton, Victoria, Swale, Andrew, Weber, Astrid, Banka, Siddharth, Breen, Catherine, Briggs, Tracy, Burkitt-Wright, Emma, Chandler, Kate, Clayton-Smith, Jill, Donnai, Dian, Douzgou, Sofia, Gaunt, Lorraine, Jones, Elizabeth, Kerr, Bronwyn, Langley, Claire, Metcalfe, Kay, Smith, Audrey, Wright, Ronnie, Bourn, David, Burn, John, Fisher, Richard, Hellens, Steve, Henderson, Alex, Montgomery, Tara, Splitt, Miranda, Straub, Volker, Wright, Michael, Zwolinski, Simon, Allen, Zoe, Bernhard, Birgitta, Brady, Angela, Brooks, Claire, Busby, Louise, Clowes, Virginia, Ghali, Neeti, Holder, Susan, Ibitoye, Rita, Wakeling, Emma, Blair, Edward, Carmichael, Jenny, Cilliers, Deirdre, Clasper, Susan, Gibbons, Richard, Kini, Usha, Lester, Tracy, Nemeth, Andrea, Poulton, Joanna, Price, Sue, Shears, Debbie, Stewart, Helen, Wilkie, Andrew, Albaba, Shadi, Baker, Duncan, Balasubramanian, Meena, Johnson, Diana, Parker, Michael, Quarrell, Oliver, Stewart, Alison, Willoughby, Josh, Crosby, Charlene, Elmslie, Frances, Homfray, Tessa, Jin, Huilin, Lahiri, Nayana, Mansour, Sahar, Marks, Karen, McEntagart, Meriel, Saggar, Anand, Tatton-Brown, Kate, Butler, Rachel, Clarke, Angus, Corrin, Sian, Fry, Andrew, Kamath, Arveen, McCann, Emma, Mugalaasi, Hood, Pottinger, Caroline, Procter, Annie, Sampson, Julian, Sansbury, Francis, Varghese, Vinod, Baralle, Diana, Callaway, Alison, Cassidy, Emma J., Daniels, Stacey, Douglas, Andrew, Foulds, Nicola, Hunt, David, Kharbanda, Mira, Lachlan, Katherine, Mercer, Catherine, Side, Lucy, Temple, I. Karen, Wellesley, Diana, Martin, Hilary C. [0000-0002-4454-9084], Gardner, Eugene J. [0000-0001-9671-1533], Samocha, Kaitlin E. [0000-0002-1704-3352], Eberhardt, Ruth Y. [0000-0001-6152-1369], Tavares, Ana Lisa Taylor [0000-0001-7089-0502], Neville, Matthew D. C. [0000-0001-5816-7936], Niemi, Mari E. K. [0000-0003-0696-6175], Wright, Caroline F. [0000-0003-2958-5076], Hurles, Matthew E. [0000-0002-2333-7015], and Apollo - University of Cambridge Repository

Subjects
631/208/366, 49/23, article, 631/208/1516, 631/208/205
Abstract

Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in 11,044 developmental disorder patients, and find a similar rate of X-linked causes in males and females (6.0% and 6.9%, respectively), indicating that such variants do not account for the 1.4-fold male bias. We develop an improved strategy to detect X-linked developmental disorders and identify 23 significant genes, all of which were previously known, consistent with our inference that the vast majority of the X-linked burden is in known developmental disorder-associated genes. Importantly, we estimate that, in male probands, only 13% of inherited rare missense variants in known developmental disorder-associated genes are likely to be pathogenic. Our results demonstrate that statistical analysis of large datasets can refine our understanding of modes of inheritance for individual X-linked disorders.

Published
2021
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78. sj-pdf-1-spr-10.1177_02654075211041657 – Supplemental Material for Emotional approach coping and daily support behavior in romantic relationships

Author

Austin, Kathryn W, Kane, Heidi S, Williams, Denise D, and Ackerman, Robert A

Subjects
200199 Communication and Media Studies not elsewhere classified, FOS: Media and communications, FOS: Psychology, 170199 Psychology not elsewhere classified
Abstract

Supplemental Material, sj-pdf-1-spr-10.1177_02654075211041657 for Emotional approach coping and daily support behavior in romantic relationships by Kathryn W Austin, Heidi S Kane, Denise D William and Robert A Ackerman in Journal of Social and Personal Relationships

Published
2021
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80. Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)

Author

Meyer, Esther, Ricketts, Christopher, Morgan, Neil V., Morris, Mark R., Pasha, Shanaz, Tee, Louise J., Rahman, Fatimah, Bazin, Anne, Bessieres, Bettina, Dechelotte, Pierre, Yacoubi, Mohamed T., Al-Adnani, Mudher, Marton, Tamas, Tannahill, David, Trembath, Richard C., Fallet-Bianco, Catherine, Cox, Phillip, Williams, Denise, and Maher, Eamonn R.

Subjects
Gene mutations -- Research, Proliferative vitreoretinopathy -- Genetic aspects, Hydrocephalus -- Genetic aspects, Biological sciences
Abstract

A study performs autozygosity mapping in three consanguineous families to identify the molecular basis for proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also called Fowler syndrome. Results reveal that germline mutations in FLVCR2 gene in the 14q24.3 chromosome are associated with PVHH.

Published
2010

84. SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

Author

Krieger, Michael, Roos, Andreas, Stendel, Claudia, Claeys, Kristl G., Sonmez, Fatma Mujgan, Baudis, Michael, Bauer, Peter, Bornemann, Antje, de Goede, Christian, Dufke, Andreas, Finkel, Richard S., Goebel, Hans H., Häussler, Martin, Kingston, Helen, Kirschner, Janbernd, Medne, Livija, Muschke, Petra, Rivier, François, Rudnik-Schöneborn, Sabine, Spengler, Sabrina, Inzana, Francesca, Stanzial, Franco, Benedicenti, Francesco, Synofzik, Matthis, Lia Taratuto, Ana, Pirra, Laura, Tay, Stacey Kiat-Hong, Topaloglu, Haluk, Uyanik, Gökhan, Wand, Dorothea, Williams, Denise, Zerres, Klaus, Weis, Joachim, and Senderek, Jan

Published
2013
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89. Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy

Author

Fry, Andrew E., primary, Marra, Christopher, additional, Derrick, Anna V., additional, Pickrell, William O., additional, Higgins, Adam T., additional, te Water Naude, Johann, additional, McClatchey, Martin A., additional, Davies, Sally J., additional, Metcalfe, Kay A., additional, Tan, Hui Jeen, additional, Mohanraj, Rajiv, additional, Avula, Shivaram, additional, Williams, Denise, additional, Brady, Lauren I., additional, Mesterman, Ronit, additional, Tarnopolsky, Mark A., additional, Zhang, Yuehua, additional, Yang, Ying, additional, Wang, Xiaodong, additional, Rees, Mark I., additional, Goldfarb, Mitchell, additional, and Chung, Seo-Kyung, additional

Published
2021
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92. De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

Author

Cappuccio, Gerarda, primary, Sayou, Camille, additional, Tanno, Pauline Le, additional, Tisserant, Emilie, additional, Bruel, Ange-Line, additional, Kennani, Sara El, additional, Sá, Joaquim, additional, Low, Karen J., additional, Dias, Cristina, additional, Havlovicová, Markéta, additional, Hančárová, Miroslava, additional, Eichler, Evan E., additional, Devillard, Françoise, additional, Moutton, Sébastien, additional, Van-Gils, Julien, additional, Dubourg, Christèle, additional, Odent, Sylvie, additional, Gerard, Bénédicte, additional, Piton, Amélie, additional, Yamamoto, Toshiyuki, additional, Okamoto, Nobuhiko, additional, Firth, Helen, additional, Metcalfe, Kay, additional, Moh, Anna, additional, Chapman, Kimberly A., additional, Aref-Eshghi, Erfan, additional, Kerkhof, Jennifer, additional, Torella, Annalaura, additional, Nigro, Vincenzo, additional, Perrin, Laurence, additional, Piard, Juliette, additional, Le Guyader, Gwenaël, additional, Jouan, Thibaud, additional, Thauvin-Robinet, Christel, additional, Duffourd, Yannis, additional, George-Abraham, Jaya K., additional, Buchanan, Catherine A., additional, Williams, Denise, additional, Kini, Usha, additional, Wilson, Kate, additional, Brunetti-Pierri, Nicola, additional, Casari, Giorgio, additional, Cappuccio, Gerarda, additional, Pinelli, Michele, additional, Musacchia, Francesco, additional, Mutarelli, Margherita, additional, Carrella, Diego, additional, Vitiello, Giuseppina, additional, Capra, Valeria, additional, Parenti, Giancarlo, additional, Leuzzi, Vincenzo, additional, Selicorni, Angelo, additional, Maitz, Silvia, additional, Banfi, Sandro, additional, Zollino, Marcella, additional, Montomoli, Mario, additional, Milani, Donatelli, additional, Romano, Corrado, additional, Tummolo, Albina, additional, De Brasi, Daniele, additional, Coppola, Antonietta, additional, Santoro, Claudia, additional, Peron, Angela, additional, Pantaleoni, Chiara, additional, Castello, Raffaele, additional, D’Arrigo, Stefano, additional, Sousa, Sérgio B., additional, Hennekam, Raoul C.M., additional, Sadikovic, Bekim, additional, Thevenon, Julien, additional, Govin, Jérôme, additional, and Vitobello, Antonio, additional

Published
2020
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94. Contributors

Author

Aiton, Neil, primary, Archer, Nick, additional, Ayling, Ruth M, additional, Balchin, Imelda, additional, Barth, Peter G, additional, Bedford Russell, Alison, additional, Bishop, Nick, additional, Blott, Maggie, additional, Bowron, Ann, additional, Boylan, Geraldine, additional, Cairns, Pamela, additional, Caluseriu, Oana, additional, Cant, Andrew J, additional, Cartlidge, Patrick H T, additional, Cheetham, Tim, additional, Chiswick, Malcolm, additional, Chomtho, Sirinuch, additional, Choonara, Imti, additional, Clarke, N M P, additional, Cole, Tim, additional, Conroy, Sharon, additional, Dare, Christopher J, additional, Davenport, Mark, additional, Denbow, Mark, additional, Dyet, Leigh, additional, Edmonds, D Keith, additional, Farrer, Kate, additional, Fewtrell, Mary, additional, Fleck, Brian, additional, Fox, Grenville F, additional, Gennery, Andrew R, additional, Green, Andrew, additional, Greenough, Anne, additional, Groenendaal, Floris, additional, Hadžić, Nedim, additional, Hagmann, Cornelia, additional, Hannam, Simon, additional, Harding, Sian, additional, Hawdon, Jane, additional, Huertas-Ceballos, Angela, additional, Humphries, Paul, additional, Isaacs, David, additional, Ives, N Kevin, additional, Jain, Anoo, additional, Johnson, Samantha, additional, Jones, Simon A, additional, Kempley, Steve, additional, Kennedy, Gillian, additional, Kyle, Pippa, additional, Laing, Ian A, additional, Lawn, Cassie, additional, Leigh, Bertie, additional, Lucas, Alan, additional, Lyon, Andrew, additional, Macfarlane, Alison, additional, Manzur, Adnan, additional, Marlow, Neil, additional, Mayahi, Lila, additional, Mchaffie, Hazel E, additional, Mcintyre, John, additional, Meek, Judith Helen, additional, Mieli-Vergani, Giorgina, additional, Milner, Anthony D, additional, Modi, Neena, additional, Morley, Colin J, additional, Morrison, Gavin, additional, Mugford, Miranda, additional, Muntoni, Francesco, additional, Murdoch, Edile, additional, Murray, Neil A, additional, Newell, Simon, additional, O'Donnell, Colm, additional, Palmer, Roger D, additional, Pasupathy, Dharmintra, additional, Peebles, Donald, additional, Piyasena, Chinthika, additional, Ratnavel, Nandiran, additional, Reardon, William, additional, Rennie, Janet M, additional, Robb, Stephanie, additional, Roberts, Irene, additional, Robertson, Nicola J, additional, Rogers, Maureen, additional, Sale, Steven M, additional, Schenk, Daniel J, additional, Sebire, Neil, additional, Shah, Divyen K, additional, Smeulders, Naima, additional, Smith, Gordon C S, additional, Smyth, Alistair G, additional, Stringer, Mark D, additional, Sugarman, Ian, additional, Thayyil, Sudhin, additional, Turowski, Carmen, additional, Veerareddy, Sukrutha, additional, Weber, Martin A, additional, Wilcox, Duncan T, additional, Williams, David, additional, Williams, Denise M, additional, Wraith, James E, additional, Wyatt, John, additional, and Yates, Robert W M, additional

Published
2012
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98. Suicide Postvention in Schools: What Evidence Supports Our Current National Recommendations?

Author

Williams, Denise Yookong, Wexler, Lisa, and Mueller, Anna S.

Abstract

Suicide is a leading cause of death for school-aged preteens and adolescents and a growing risk for younger children. Schools are the ubiquitous institutional context serving this age group. These trends suggest a need for knowledge and guidance related to school postvention efforts, yet the available research is limited. Focusing on postvention, or the period after a peer suicide occurs, is critical to youth suicide prevention because this is a time of elevated suicide risk for youth. Targeted postvention interventions in schools can mitigate youth suicide risk and limit contagion within a school's student body. This article explores the scientific literature related to school-based suicide postvention, describing the strength and limits of research supporting common recommendations for suicide postvention in schools. It identifies widespread recommendations for school postvention that have only preliminary supportive evidence and notes several areas in need of additional research. With clearer postvention best practices to guide their suicide crisis preparedness plans and postvention procedures, schools can better support students, families, and the community as a whole in order to prevent further tragedies. [ABSTRACT FROM AUTHOR]

Published
2022

99. Emotional approach coping and daily support behavior in romantic relationships.

Author

Austin, Kathryn W., Kane, Heidi S., Williams, Denise D., and Ackerman, Robert A.

Subjects
PREVENTION of psychological stress, WELL-being, SOCIAL support, DIARY (Literary form), PSYCHOSOCIAL factors, EMOTIONS, PSYCHOLOGICAL adaptation, SEXUAL partners
Abstract

People differ in the degree to which they seek emotional support from romantic partners during times of stress. Moreover, receiving emotional support from partners is not always beneficial. Emotional approach coping (EAC)—the tendency to cope with stress by processing and expressing emotions—may play an important role in determining who seeks and who benefits from emotional support. This report used dyadic data from a two-week daily diary study (N = 116 couples) to determine if those higher in EAC seek more emotional support, receive more emotional support, and perceive the support they receive from romantic partners as more effective than those lower in EAC. Further, we examined if these associations are stronger on days of above average perceived stress. Finally, we examined if participants higher in EAC, were more likely to benefit from receiving emotional support. Participants higher in EAC were more likely to seek emotional support from their partners. After adjusting for emotional support seeking, EAC was unrelated to receiving emotional support; however, participants higher in EAC rated the emotional support they received as more effective. Although participants reported greater individual well-being and higher relationship satisfaction on days they received emotional support from their partners, EAC did not moderate these associations. Taken together, these results suggest that people higher in EAC are more likely to experience benefits from receiving support because they seek more emotional support and report receiving more effective emotional support from their partners. [ABSTRACT FROM AUTHOR]

Published
2022
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100. Decontamination of metals from firefighter turnout gear.

Author

Stolpman, Drew, Williams, Denise N., Solouki, Touradj, and Harris, Debra D.

Subjects
*TEXTILES, *DETERGENTS, *DECONTAMINATION (From gases, chemicals, etc.), *ARSENIC, *CADMIUM, *PROTECTIVE clothing, *CLEANING compounds, *ANTIMONY, *CONTINUING education units, *METALS, *NITRIC acid, *MASS spectrometry, *LEAD, *HYDROGEN peroxide
Abstract

Firefighters are exposed to many different contaminants during structural fires. Moreover, if their protective gear is not successfully decontaminated, firefighters are at risk of being repeatedly exposed to contaminants from previous fires. Thus, the successful removal of contaminants from firefighter turnout gear is necessary to prevent or reduce repeated exposure risks. Laundering methods can reduce the probability of re-exposure to contaminants, such as heavy metals, thus reducing repeated exposure risks. In this study, the efficiencies of heavy metal removal from the firefighter turnout gear outer textile by Decon7 cleaning solution and a standard reference detergent were compared. Nitric acid digests were used to extract metals from textile samples, which were cut from small sections of firefighter jackets, before and after their laundering with either cleaning solution. Inductively coupled plasma mass spectrometry (ICP-MS) was utilized to determine metal contents, including arsenic (As), antimony (Sb), cadmium (Cd), chromium (Cr), and lead (Pb) concentrations. Results from multiplicate samples indicated that, on average, Decon7 was significantly more efficient than a standard detergent in decreasing the concentrations of the five metals studied herein. [ABSTRACT FROM AUTHOR]

Published
2022
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