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2. BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Author

Peron, Angela, D’Arco, Felice, Aldinger, Kimberly A., Smith-Hicks, Constance, Zweier, Christiane, Gradek, Gyri A., Bradbury, Kimberley, Accogli, Andrea, Andersen, Erica F., Au, Ping Yee Billie, Battini, Roberta, Beleford, Daniah, Bird, Lynne M., Bouman, Arjan, Bruel, Ange-Line, Busk, Øyvind Løvold, Campeau, Philippe M., Capra, Valeria, Carlston, Colleen, Carmichael, Jenny, Chassevent, Anna, Clayton-Smith, Jill, Bamshad, Michael J., Earl, Dawn L., Faivre, Laurence, Philippe, Christophe, Ferreira, Patrick, Graul-Neumann, Luitgard, Green, Mary J., Haffner, Darrah, Haldipur, Parthiv, Hanna, Suhair, Houge, Gunnar, Jones, Wendy D., Kraus, Cornelia, Kristiansen, Birgit Elisabeth, Lespinasse, James, Low, Karen J., Lynch, Sally Ann, Maia, Sofia, Mao, Rong, Kalinauskiene, Ruta, Melver, Catherine, McDonald, Kimberly, Montgomery, Tara, Morleo, Manuela, Motter, Constance, Openshaw, Amanda S., Palumbos, Janice Cox, Parikh, Aditi Shah, Perilla-Young, Yezmin, Powell, Cynthia M., Person, Richard, Desai, Megha, Piard, Juliette, Pfundt, Rolph, Scala, Marcello, Serey-Gaut, Margaux, Shears, Deborah, Slavotinek, Anne, Suri, Mohnish, Turner, Claire, Tvrdik, Tatiana, Weiss, Karin, Wentzensen, Ingrid M., Zollino, Marcella, Hsieh, Tzung-Chien, de Vries, Bert B. A., Guillemot, Francois, Dobyns, William B., Viskochil, David, and Dias, Cristina

Published
2024
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4. International survey on invasive lobular breast cancer identifies priority research questions

Author

Oesterreich, Steffi, Pate, Leigh, Lee, Adrian V, Chen, Fangyuan, Jankowitz, Rachel C, Mukhtar, Rita, Metzger, Otto, Sikora, Matthew J, Li, Christopher I, Sotiriou, Christos, Shah, Osama S, Koorman, Thijs, Ulaner, Gary, Reis-Filho, Jorge S, Davidson, Nancy M, Van Baelen, Karen, Hutcheson, Laurie, Freeney, Siobhan, Migyanka, Flora, Turner, Claire, Derksen, Patrick, Bear, Todd, and Desmedt, Christine

Subjects
Health Services and Systems, Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Health Disparities, Cancer, Women's Health, Clinical Research, Breast Cancer, Clinical Trials and Supportive Activities, Clinical sciences, Oncology and carcinogenesis, Epidemiology
Abstract

There is growing awareness of the unique etiology, biology, and clinical presentation of invasive lobular breast cancer (ILC), but additional research is needed to ensure translation of findings into management and treatment guidelines. We conducted a survey with input from breast cancer physicians, laboratory-based researchers, and patients to analyze the current understanding of ILC, and identify consensus research questions. 1774 participants from 66 countries respondents self-identified as clinicians (N = 413), researchers (N = 376), and breast cancer patients and advocates (N = 1120), with some belonging to more than one category. The majority of physicians reported being very/extremely (41%) to moderately (42%) confident in describing the differences between ILC and invasive breast cancer of no special type (NST). Knowledge of histology was seen as important (73%) and as affecting treatment decisions (51%), and most agreed that refining treatment guidelines would be valuable (76%). 85% of clinicians have never powered a clinical trial to allow subset analysis for histological subtypes, but the majority would consider it, and would participate in an ILC clinical trials consortium. The majority of laboratory researchers, reported being and very/extremely (48%) to moderately (29%) confident in describing differences between ILC and NST. They reported that ILCs are inadequately presented in large genomic data sets, and that ILC models are insufficient. The majority have adequate access to tissue or blood from patients with ILC. The majority of patients and advocates (52%) thought that their health care providers did not sufficiently explain the unique features of ILC. They identified improvement of ILC screening/early detection, and identification of better imaging tools as top research priorities. In contrast, both researchers and clinicians identified understanding of endocrine resistance and identifying novel drugs that can be tested in clinical trials as top research priority. In summary, we have gathered information from an international community of physicians, researchers, and patients/advocates that we expect will lay the foundation for a community-informed collaborative research agenda, with the goal of improving management and personalizing treatment for patients with ILC.

Published
2024

5. Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

Author

Meester, Josephina A. N., Hebert, Anne, Bastiaansen, Maaike, Rabaut, Laura, Bastianen, Jarl, Boeckx, Nele, Ashcroft, Kathryn, Atwal, Paldeep S., Benichou, Antoine, Billon, Clarisse, Blankensteijn, Jan D., Brennan, Paul, Bucks, Stephanie A., Campbell, Ian M., Conrad, Solène, Curtis, Stephanie L., Dasouki, Majed, Dent, Carolyn L., Eden, James, Goel, Himanshu, Hartill, Verity, Houweling, Arjan C., Isidor, Bertrand, Jackson, Nicola, Koopman, Pieter, Korpioja, Anita, Kraatari-Tiri, Minna, Kuulavainen, Liina, Lee, Kelvin, Low, Karen J., Lu, Alan C., McManus, Morgan L., Oakley, Stephen P., Oliver, James, Organ, Nicole M., Overwater, Eline, Revencu, Nicole, Trainer, Alison H., Trivedi, Bhavya, Turner, Claire L. S., Whittington, Rebecca, Zankl, Andreas, Zentner, Dominica, Van Laer, Lut, Verstraeten, Aline, and Loeys, Bart L.

Published
2024
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6. Reporting on invasive lobular breast cancer in clinical trials: a systematic review

Author

Van Baelen, Karen, Van Cauwenberge, Josephine, Maetens, Marion, Beck, Gabriela, Camden, Ann, Chase, Megan-Claire, Fraser, Valerie, Freeney, Siobhan, Hutcheson, Laurie, Levine, Julia K., Lien, Tone, Terveer, Rian, Turner, Claire, Senkus, Elzbieta, Jankowitz, Rachel C., Vandecaveye, Vincent, Floris, Giuseppe, Neven, Patrick, Wildiers, Hans, Sawyer, Elinor, Vincent-Salomon, Anne, Derksen, Patrick W. B., and Desmedt, Christine

Published
2024
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8. Streptococcus pyogenes carriage and infection within households in The Gambia: a longitudinal cohort study

Author

Sesay, Abdul Karim, Bah, Saikou, Erhart, Annette, Roca, Anna, Tiencheu, Peggy-Estelle, Jabang, Sona, Darboe, Saffiatou, Antonio, Martin, Jaiteh, Lamin, Forrest, Karen, Armitage, Edwin P, de Crombrugghe, Gabrielle, Keeley, Alexander J, Senghore, Elina, Camara, Fatoumata E, Jammeh, Musukoi, Bittaye, Amat, Ceesay, Haddy, Ceesay, Isatou, Samateh, Bunja, Manneh, Muhammed, Kampmann, Beate, Turner, Claire E, Kucharski, Adam, Botteaux, Anne, Smeesters, Pierre R, de Silva, Thushan I, and Marks, Michael

Published
2024
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12. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Author

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, Ajith Kumar, V.K., 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, Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., FurióTarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., MaleadyCrowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Johnston, Jean M., Karaviti, Lefkothea, Kelley, Emily G., Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Sharma, Prashant, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tamburro, Cecelia P., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-Kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Jeffries, Lauren, Mis, Emily K., McWalter, Kirsty, Donkervoort, Sandra, Brodsky, Nina N., Carpier, Jean-Marie, Ji, Weizhen, Ionita, Cristian, Roy, Bhaskar, Morrow, Jon S., Darbinyan, Armine, Iyer, Krishna, Aul, Ritu B., Chao, Katherine R., Cobbold, Laura, Cohen, Stacey, Custodio, Helena M., Drummond-Borg, Margaret, Finanger, Erika, Hainline, Bryan E., Helbig, Ingo, Hewson, Stacy, Hu, Ying, Jackson, Adam, Konstantino, Monica, Leach, Meganne E., McCormick, David, Nelson, Stanley, Nguyen, Joanne, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Roeder, Elizabeth, Roy, Sani, Sapp, Katie, Saade, Dimah, Sisodiya, Sanjay M., Stals, Karen, Towner, Shelley, Wilson, William, Khokha, Mustafa K., Bönnemann, Carsten G., Lucas, Carrie L., and Lakhani, Saquib A.

Published
2024
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13. Genetic association analysis of 77,539 genomes reveals rare disease etiologies

Author

Greene, Daniel, Pirri, Daniela, Frudd, Karen, Sackey, Ege, Al-Owain, Mohammed, Giese, Arnaud P. J., Ramzan, Khushnooda, Riaz, Sehar, Yamanaka, Itaru, Boeckx, Nele, Thys, Chantal, Gelb, Bruce D., Brennan, Paul, Hartill, Verity, Harvengt, Julie, Kosho, Tomoki, Mansour, Sahar, Masuno, Mitsuo, Ohata, Takako, Stewart, Helen, Taibah, Khalid, Turner, Claire L. S., Imtiaz, Faiqa, Riazuddin, Saima, Morisaki, Takayuki, Ostergaard, Pia, Loeys, Bart L., Morisaki, Hiroko, Ahmed, Zubair M., Birdsey, Graeme M., Freson, Kathleen, Mumford, Andrew, and Turro, Ernest

Published
2023
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16. Mind The Gap: Labour Court Rules On Mental Health And Misconduct In The Workplace

Author

Turner, Claire

Subjects
Cases, Company legal issue, Mental disorders -- Cases, Workplace accommodation -- Cases, Employment terminations -- Cases, Professional misconduct -- Cases, Employee dismissals -- Cases, Mental illness -- Cases
Abstract

As a result of the Covid-19 pandemic and other factors, many employees struggle with physical and mental illness. In the more recent case of Pahlanga vs The Petroleum Oil and [...]

Published
2024

18. Streptococcus pyogenes carriage and infection within households in The Gambia: a longitudinal cohort study

Author

Armitage, Edwin P, primary, de Crombrugghe, Gabrielle, additional, Keeley, Alexander J, additional, Senghore, Elina, additional, Camara, Fatoumata E, additional, Jammeh, Musukoi, additional, Bittaye, Amat, additional, Ceesay, Haddy, additional, Ceesay, Isatou, additional, Samateh, Bunja, additional, Manneh, Muhammed, additional, Kampmann, Beate, additional, Turner, Claire E, additional, Kucharski, Adam, additional, Botteaux, Anne, additional, Smeesters, Pierre R, additional, de Silva, Thushan I, additional, Marks, Michael, additional, Sesay, Abdul Karim, additional, Bah, Saikou, additional, Erhart, Annette, additional, Roca, Anna, additional, Tiencheu, Peggy-Estelle, additional, Jabang, Sona, additional, Darboe, Saffiatou, additional, Antonio, Martin, additional, Jaiteh, Lamin, additional, and Forrest, Karen, additional

Published
2024
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19. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Author

Skraban, Cara M, Wells, Constance F, Markose, Preetha, Cho, Megan T, Nesbitt, Addie I, Au, PY Billie, Begtrup, Amber, Bernat, John A, Bird, Lynne M, Cao, Kajia, de Brouwer, Arjan PM, Denenberg, Elizabeth H, Douglas, Ganka, Gibson, Kristin M, Grand, Katheryn, Goldenberg, Alice, Innes, A Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M, Owens, Martina M, Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire LS, Verbeek, Nienke E, Walsh, Laurence E, Warner, Taylor C, Wheeler, Patricia G, Wieczorek, Dagmar, Wilkens, Alisha B, Zonneveld-Huijssoon, Evelien, Study, Deciphering Developmental Disorders, Kleefstra, Tjitske, Robertson, Stephen P, Santani, Avni, van Gassen, Koen LI, and Deardorff, Matthew A

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Dental/Oral and Craniofacial Disease, Rare Diseases, Neurodegenerative, Epilepsy, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Adaptor Proteins, Signal Transducing, Amino Acid Sequence, Base Sequence, Child, Preschool, Chromosome Deletion, Facies, Female, Gait, Growth and Development, Haploinsufficiency, Humans, Intellectual Disability, Male, Mutation, Proteins, RNA Stability, Seizures, Syndrome, Deciphering Developmental Disorders Study, WD-40, WDR protein, WDR26, intellectual disability, seizure, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

We report 15 individuals with de novo pathogenic variants in WDR26. Eleven of the individuals carry loss-of-function mutations, and four harbor missense substitutions. These 15 individuals comprise ten females and five males, and all have intellectual disability with delayed speech, a history of febrile and/or non-febrile seizures, and a wide-based, spastic, and/or stiff-legged gait. These subjects share a set of common facial features that include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip. Together, these features comprise a recognizable facial phenotype. We compared these features with those of chromosome 1q41q42 microdeletion syndrome, which typically contains WDR26, and noted that clinical features are consistent between the two subsets, suggesting that haploinsufficiency of WDR26 contributes to the pathology of 1q41q42 microdeletion syndrome. Consistent with this, WDR26 loss-of-function single-nucleotide mutations identified in these subjects lead to nonsense-mediated decay with subsequent reduction of RNA expression and protein levels. We derived a structural model of WDR26 and note that missense variants identified in these individuals localize to highly conserved residues of this WD-40-repeat-containing protein. Given that WDR26 mutations have been identified in ∼1 in 2,000 of subjects in our clinical cohorts and that WDR26 might be poorly annotated in exome variant-interpretation pipelines, we would anticipate that this disorder could be more common than currently appreciated.

Published
2017

20. International survey on invasive lobular breast cancer identifies priority research questions

Author

Pathologie patiënten zorg, Pathologie Groep Derksen, Cancer, Oesterreich, Steffi, Pate, Leigh, Lee, Adrian V., Chen, Fangyuan, Jankowitz, Rachel C., Mukhtar, Rita, Metzger, Otto, Sikora, Matthew J., Li, Christopher I., Sotiriou, Christos, Shah, Osama S., Koorman, Thijs, Ulaner, Gary, Reis-Filho, Jorge S., Davidson, Nancy M., Van Baelen, Karen, Hutcheson, Laurie, Freeney, Siobhan, Migyanka, Flora, Turner, Claire, Derksen, Patrick, Bear, Todd, Desmedt, Christine, Pathologie patiënten zorg, Pathologie Groep Derksen, Cancer, Oesterreich, Steffi, Pate, Leigh, Lee, Adrian V., Chen, Fangyuan, Jankowitz, Rachel C., Mukhtar, Rita, Metzger, Otto, Sikora, Matthew J., Li, Christopher I., Sotiriou, Christos, Shah, Osama S., Koorman, Thijs, Ulaner, Gary, Reis-Filho, Jorge S., Davidson, Nancy M., Van Baelen, Karen, Hutcheson, Laurie, Freeney, Siobhan, Migyanka, Flora, Turner, Claire, Derksen, Patrick, Bear, Todd, and Desmedt, Christine

Published
2024

21. Reporting on invasive lobular breast cancer in clinical trials: a systematic review

Author

Pathologie patiënten zorg, Pathologie Groep Derksen, Cancer, Van Baelen, Karen, Van Cauwenberge, Josephine, Maetens, Marion, Beck, Gabriela, Camden, Ann, Chase, Megan Claire, Fraser, Valerie, Freeney, Siobhan, Hutcheson, Laurie, Levine, Julia K., Lien, Tone, Terveer, Rian, Turner, Claire, Senkus, Elzbieta, Jankowitz, Rachel C., Vandecaveye, Vincent, Floris, Giuseppe, Neven, Patrick, Wildiers, Hans, Sawyer, Elinor, Vincent-Salomon, Anne, Derksen, Patrick W.B., Desmedt, Christine, Pathologie patiënten zorg, Pathologie Groep Derksen, Cancer, Van Baelen, Karen, Van Cauwenberge, Josephine, Maetens, Marion, Beck, Gabriela, Camden, Ann, Chase, Megan Claire, Fraser, Valerie, Freeney, Siobhan, Hutcheson, Laurie, Levine, Julia K., Lien, Tone, Terveer, Rian, Turner, Claire, Senkus, Elzbieta, Jankowitz, Rachel C., Vandecaveye, Vincent, Floris, Giuseppe, Neven, Patrick, Wildiers, Hans, Sawyer, Elinor, Vincent-Salomon, Anne, Derksen, Patrick W.B., and Desmedt, Christine

Published
2024

22. Streptococcus pyogenes carriage and infection within households in The Gambia: a longitudinal cohort study

Author

Armitage, Edwin Peter, de Crombrugghe, Gabrielle, Keeley, Alexander Ryota A.J., Senghore, Elina, Camara, Fatoumata, Jammeh, Musukoi, Bittaye, Amat, Ceesay, Haddy, Ceesay, Isatou, Samateh, Bunja, Manneh, Muhammed, Kampmann, Beate, Turner, Claire C.R., Kucharski, Adam A.J., Botteaux, Anne, Smeesters, Pierre, De Silva, Thushan T.I., Marks, Michael, Sesay, Abdul Karim, Bah, Saikou, Erhart, Annette, Roca, Anna, Tiencheu, Peggy Estelle, Jabang, Sona, Darboe, Saffiatou, Antonio, Martin, Jaiteh, Lamin, Forrest, Karen, Armitage, Edwin Peter, de Crombrugghe, Gabrielle, Keeley, Alexander Ryota A.J., Senghore, Elina, Camara, Fatoumata, Jammeh, Musukoi, Bittaye, Amat, Ceesay, Haddy, Ceesay, Isatou, Samateh, Bunja, Manneh, Muhammed, Kampmann, Beate, Turner, Claire C.R., Kucharski, Adam A.J., Botteaux, Anne, Smeesters, Pierre, De Silva, Thushan T.I., Marks, Michael, Sesay, Abdul Karim, Bah, Saikou, Erhart, Annette, Roca, Anna, Tiencheu, Peggy Estelle, Jabang, Sona, Darboe, Saffiatou, Antonio, Martin, Jaiteh, Lamin, and Forrest, Karen

Abstract

Background: Streptococcus pyogenes causes more than 500 000 deaths per year globally, which occur disproportionately in low-income and middle-income countries. The roles of S pyogenes skin and pharyngeal carriage in transmission are unclear. We aimed to investigate the clinical epidemiology and household transmission dynamics of both S pyogenes asymptomatic carriage and infection in a high-burden setting. Methods: We did a 1-year prospective, longitudinal, household cohort study, recruiting healthy participants from households in Sukuta, The Gambia. Households were eligible if they comprised at least three members, including one child younger than 18 years, and were excluded if more than half of household members declined to participate. Households were identified by random GPS coordinates derived from census data. At monthly visits, pharyngeal and normal skin swabs were collected for S pyogenes culture, and sociodemographic data were recorded by interview. Incident pharyngitis and pyoderma infections were captured. Cultured isolates underwent emm genotyping. The primary outcome measures were incidence of S pyogenes carriage and disease. Additional outcomes were prevalence of S pyogenes skin and pharyngeal carriage, S pyogenes skin and pharyngeal clearance time, S pyogenes emm type, risk factors for carriage and disease events, household secondary attack rate, and emm-linked household transmission events. The study is registered on ClinicalTrials.gov, NCT05117528. Findings: Between July 27, 2021, and Sept 28, 2022, 442 participants were enrolled from 44 households. The median age was 15 years (IQR 6–28) and 233 (53%) were female. We identified 17 pharyngitis and 99 pyoderma events and 49 pharyngeal and 39 skin S pyogenes carriage acquisition events. Mean monthly prevalence was 1·4% (95% CI 1·1–1·9) for S pyogenes pharyngeal carriage and 1·2% (0·9–1·6) for S pyogenes skin carriage. Incidence was 120 per 1000 person-years (95% CI 87–166) for S pyogenes pharyngeal carr, SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2024

23. Identification of pathways to high-level vancomycin resistance in Clostridioides difficile that incur high fitness costs in key pathogenicity traits.

Author

Buddle, Jessica E., Thompson, Lucy M., Williams, Anne S., Wright, Rosanna C. T., Durham, William M., Turner, Claire E., Chaudhuri, Roy R., Brockhurst, Michael A., and Fagan, Robert P.

Subjects
VANCOMYCIN resistance, CLOSTRIDIOIDES difficile, GLYCOPEPTIDE antibiotics, CELLULAR signal transduction, VANCOMYCIN
Abstract

Clostridioides difficile is an important human pathogen, for which there are very limited treatment options, primarily the glycopeptide antibiotic vancomycin. In recent years, vancomycin resistance has emerged as a serious problem in several gram-positive pathogens, but high-level resistance has yet to be reported for C. difficile, although it is not known if this is due to constraints upon resistance evolution in this species. Here, we show that resistance to vancomycin can evolve rapidly under ramping selection but is accompanied by fitness costs and pleiotropic trade-offs, including sporulation defects that would be expected to severely impact transmission. We identified 2 distinct pathways to resistance, both of which are predicted to result in changes to the muropeptide terminal D-Ala-D-Ala that is the primary target of vancomycin. One of these pathways involves a previously uncharacterised D,D-carboxypeptidase, expression of which is controlled by a dedicated two-component signal transduction system. Our findings suggest that while C. difficile is capable of evolving high-level vancomycin resistance, this outcome may be limited clinically due to pleiotropic effects on key pathogenicity traits. Moreover, our data identify potential mutational routes to resistance that should be considered in genomic surveillance. Clostridioides difficile is a human pathogen primarily treated with the antibiotic vancomycin. High-level vancomycin resistance is a serious problem in other pathogens, not yet for C. difficile. This study identifies two resistance pathways in C. difficile, which evolve rapidly but with fitness costs that could affect transmission. [ABSTRACT FROM AUTHOR]

Published
2024
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26. Molecular methods enhance the detection of pyoderma-related Streptococcus pyogenes and emm-type distribution in children

Author

Hall, Jennifer Natalie, primary, Armitage, Edwin P., additional, Senghore, Elina, additional, Darboe, Saffiatou, additional, Barry, Momodou, additional, Camara, Janko, additional, Bah, Sulayman, additional, Keeley, Alexander J., additional, McCarthy, James S., additional, Smeesters, Pierre, additional, Turner, Claire E., additional, Darton, Thomas C., additional, Marks, Michael, additional, Angyal, Adrienn, additional, and de Silva, Thushan I., additional

Published
2024
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27. 44 Quantitative PCR demonstrates the underestimated burden of Streptococcus pyogenes as a cause of paediatric pyoderma in The Gambia

Author

Hall, Jennifer, primary, Angyal, Adri, additional, Armitage, Edwin, additional, Senghore, Elina, additional, Darboe, Saffiatou, additional, Barry, Momodou, additional, Camara, Janko, additional, Bah, Sulayman, additional, Keeley, Alexander, additional, McCarthy, James, additional, Turner, Claire, additional, Darton, Thomas, additional, Marks, Michael, additional, and de Silva, Thushan, additional

Published
2023
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33. A cluster of acute thebaine poisonings from non-food grade poppy seeds in the Australian food supply

Author

Isoardi, Katherine Z., primary, Roberts, Darren M., additional, Holford, Amanda G., additional, Brown, Jared A., additional, Griffiths, Andrew, additional, Soderstrom, Jessamine, additional, McDonald, Catherine, additional, Gerostamoulos, Dimitri, additional, Sakrajda, Paul, additional, Turner, Claire, additional, Yates, Hans, additional, Gunja, Naren, additional, and Greene, Shaun, additional

Published
2023
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35. Representing events in Saanich (Northern Straits Salish) : the interaction of aspect and valence

Author

Turner, Claire Kelly

Subjects
410
Abstract

The linguistic representation of events in time results from the interaction of various components: the inherent semantics of a given verb, derivational morphology, aspect, argument structure, adverbial modification, etc. In the Salish languages of Western North America, a great deal of information about argument structure is given by derivational affixes, and recent work on predicate classification in Salish languages has shown that some of these affixes affect the situation type (i.e., Vendlerian/Aristotelian aspectual class) of a predicate. This thesis examines the interaction of derivational affixes with both situation type and grammatical aspect in the Saanich dialect of Northern Straits Salish (SENCOTEN). Drawing mostly on primary fieldwork with speakers of this highly endangered language, I argue that aktionsart (derivational aspectual morphology), situation type, and grammatical aspect are distinct but interacting categories relevant to Saanich temporal interpretation. The thesis provides the most comprehensive description of Saanich grammatical aspect to date, by investigating its morphological status, its semantic restrictions, and its use in discourse. Building on previous analyses of aspect in Saanich and other Salish languages, I argue for a two-way inflectional distinction between perfective and imperfective aspect, and provide further evidence that the traditionally named derivational ‘control’ distinction affects situation type. Lastly, I examine the use of aspect in non-elicited contexts. The thesis supports two cross-linguistic generalisations: i) the relevance of argument structure to telicity, and ii) the correlation between telicity and perfectivity.

Published
2011

44. Clinical and Molecular Epidemiology of Staphylococcal Toxic Shock Syndrome in the United Kingdom

Author

Sharma, Hema, Smith, Debra, Turner, Claire E., Game, Laurence, Pichon, Bruno, Hope, Russell, Hill, Robert, Kearns, Angela, and Sriskandan, Shiranee

Subjects
Toxic shock syndrome -- Research, Staphylococcus aureus -- Research, Infection -- Health aspects, Epidemiology -- Analysis, Health
Abstract

Saphylococcal toxic shock syndrome (TSS) is a life-threatening illness characterized by fever, rash, desquamation, organ dysfunction, and shock. In 1980, the use of highly absorbent tampons in the United States [...]

Published
2018
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45. Streptococcus pyogenes Colonization in Children Aged 24–59 Months in the Gambia: Impact of Live Attenuated Influenza Vaccine and Associated Serological Responses

Author

Keeley, Alexander J, primary, Groves, Danielle, additional, Armitage, Edwin P, additional, Senghore, Elina, additional, Jagne, Ya Jankey, additional, Sallah, Hadijatou J, additional, Drammeh, Sainabou, additional, Angyal, Adri, additional, Hornsby, Hailey, additional, de Crombrugghe, Gabrielle, additional, Smeesters, Pierre R, additional, Rossi, Omar, additional, Carducci, Martina, additional, Peno, Chikondi, additional, Bogaert, Debby, additional, Kampmann, Beate, additional, Marks, Michael, additional, Shaw, Helen A, additional, Turner, Claire R, additional, and de Silva, Thushan I, additional

Published
2023
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46. Characterization of emergent toxigenic M1UK Streptococcus pyogenes and associated sublineages

Author

Li, Ho Kwong, primary, Zhi, Xiangyun, additional, Vieira, Ana, additional, Whitwell, Harry J., additional, Schricker, Amelia, additional, Jauneikaite, Elita, additional, Li, Hanqi, additional, Yosef, Ahmed, additional, Andrew, Ivan, additional, Game, Laurence, additional, Turner, Claire E., additional, Lamagni, Theresa, additional, Coelho, Juliana, additional, and Sriskandan, Shiranee, additional

Published
2023
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48. Abstract P6-05-10: An international survey on invasive lobular breast cancer (ILC) reveals gaps in knowledge and top priority research areas

Author

Oesterreich, Steffi, primary, Pate, Leigh, additional, LEE, ADRIAN V., additional, Jankowitz, Rachel C., additional, Derksen, Patrick, additional, Mukhtar, Rita, additional, Metzger, Otto, additional, Sikora, Matthew J., additional, Li, Christopher, additional, Sotiriou, Christos, additional, Ulaner, Gary, additional, Reis-Filho, Jorge, additional, Davidson, Nancy E, additional, Van Baelen, Karen, additional, Hutcheson, Laurie, additional, Freeney, Siobhan, additional, Migyanka, Flora, additional, Turner, Claire, additional, Bear, Todd, additional, and Desmedt, Christine, additional

Published
2023
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49. Author Correction: Human CEACAM1 is targeted by a Streptococcus pyogenes adhesin implicated in puerperal sepsis pathogenesis (Nature Communications, (2023), 14, 1, (2275), 10.1038/s41467-023-37732-1)

Author

Infection & Immunity, MMB Research line 1, Catton, Erin A, Bonsor, Daniel A, Herrera, Carolina, Stålhammar-Carlemalm, Margaretha, Lyndin, Mykola, Turner, Claire E, Soden, Jo, van Strijp, Jos A G, Singer, Bernhard B, van Sorge, Nina M, Lindahl, Gunnar, McCarthy, Alex J, Infection & Immunity, MMB Research line 1, Catton, Erin A, Bonsor, Daniel A, Herrera, Carolina, Stålhammar-Carlemalm, Margaretha, Lyndin, Mykola, Turner, Claire E, Soden, Jo, van Strijp, Jos A G, Singer, Bernhard B, van Sorge, Nina M, Lindahl, Gunnar, and McCarthy, Alex J

Published
2023

50. Human CEACAM1 is targeted by a Streptococcus pyogenes adhesin implicated in puerperal sepsis pathogenesis

Author

Infection & Immunity, MMB Research line 1, MMB onderwijs, Research UMC Utrecht, Catton, Erin A., Bonsor, Daniel A., Herrera, Carolina, Stålhammar-Carlemalm, Margaretha, Lyndin, Mykola, Turner, Claire E., Soden, Jo, van Strijp, Jos A.G., Singer, Bernhard B., van Sorge, Nina M., Lindahl, Gunnar, McCarthy, Alex J., Infection & Immunity, MMB Research line 1, MMB onderwijs, Research UMC Utrecht, Catton, Erin A., Bonsor, Daniel A., Herrera, Carolina, Stålhammar-Carlemalm, Margaretha, Lyndin, Mykola, Turner, Claire E., Soden, Jo, van Strijp, Jos A.G., Singer, Bernhard B., van Sorge, Nina M., Lindahl, Gunnar, and McCarthy, Alex J.

Published
2023

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