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1. Mpox Diagnosis, Behavioral Risk Modification, and Vaccination Uptake among Gay, Bisexual, and Other Men Who Have Sex with Men, United Kingdom, 2022

Author

Ogaz, Dana, Enayat, Qudsia, Brown, Jack R.G., Phillips, Dawn, Wilkie, Ruth, Jayes, Danielle, Reid, David, Hughes, Gwenda, Mercer, Catherine H., Saunders, John, and Mohammed, Hamish

Subjects
Human monkeypox -- Surveys -- Risk factors -- Prevention, Vaccination -- Surveys, Gay men -- Surveys -- Behavior -- Health aspects, MSM (Men who have sex with men) -- Surveys -- Health aspects -- Behavior, Risk-taking (Psychology) -- Surveys, Health
Abstract

On July 23, 2022, the World Health Organization (WHO) declared a Public Health Emergency of International Concern for the global mpox (formerly known as monkeypox) outbreak (1). By late March [...]

Published
2024
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4. Use of the Internet for Sexual Health Among Sexually Experienced Persons Aged 16 to 44 Years: Evidence from a Nationally Representative Survey of the British Population

Author

Aicken, Catherine RH, Estcourt, Claudia S, Johnson, Anne M, Sonnenberg, Pam, Wellings, Kaye, and Mercer, Catherine H

Subjects
Computer applications to medicine. Medical informatics, R858-859.7, Public aspects of medicine, RA1-1270
Abstract

BackgroundThose who go online regarding their sexual health are potential users of new Internet-based sexual health interventions. Understanding the size and characteristics of this population is important in informing intervention design and delivery. ObjectiveWe aimed to estimate the prevalence in Britain of recent use of the Internet for key sexual health reasons (for chlamydia testing, human immunodeficiency virus [HIV] testing, sexually transmitted infection [STI] treatment, condoms/contraceptives, and help/advice with one’s sex life) and to identify associated sociodemographic and behavioral factors. MethodsComplex survey analysis of data from 8926 sexually experienced persons aged 16-44 years in a 2010-2012 probability survey of Britain’s resident population. Prevalence of recent (past year) use of Internet sources for key sexual health reasons was estimated. Factors associated with use of information/support websites were identified using logistic regression to calculate age-adjusted odds ratios (AORs). ResultsRecent Internet use for chlamydia/HIV testing or STI treatment (combined) was very low (men: 0.31%; women: 0.16%), whereas 2.35% of men and 0.51% of women reported obtaining condoms/contraceptives online. Additionally, 4.49% of men and 4.57% of women reported recent use of information/support websites for advice/help with their sex lives. Prevalence declined with age (men 16-24 years: 7.7%; 35-44 years: 1.84%, P

Published
2016
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5. Nonprobability Web Surveys to Measure Sexual Behaviors and Attitudes in the General Population: A Comparison With a Probability Sample Interview Survey

Author

Erens, Bob, Burkill, Sarah, Couper, Mick P, Conrad, Frederick, Clifton, Soazig, Tanton, Clare, Phelps, Andrew, Datta, Jessica, Mercer, Catherine H, Sonnenberg, Pam, Prah, Philip, Mitchell, Kirstin R, Wellings, Kaye, Johnson, Anne M, and Copas, Andrew J

Subjects
Computer applications to medicine. Medical informatics, R858-859.7, Public aspects of medicine, RA1-1270
Abstract

BackgroundNonprobability Web surveys using volunteer panels can provide a relatively cheap and quick alternative to traditional health and epidemiological surveys. However, concerns have been raised about their representativeness. ObjectiveThe aim was to compare results from different Web panels with a population-based probability sample survey (n=8969 aged 18-44 years) that used computer-assisted self-interview (CASI) for sensitive behaviors, the third British National Survey of Sexual Attitudes and Lifestyles (Natsal-3). MethodsNatsal-3 questions were included on 4 nonprobability Web panel surveys (n=2000 to 2099), 2 using basic quotas based on age and sex, and 2 using modified quotas based on additional variables related to key estimates. Results for sociodemographic characteristics were compared with external benchmarks and for sexual behaviors and opinions with Natsal-3. Odds ratios (ORs) were used to express differences between the benchmark data and each survey for each variable of interest. A summary measure of survey performance was the average absolute OR across variables. Another summary measure was the number of key estimates for which the survey differed significantly (at the 5% level) from the benchmarks. ResultsFor sociodemographic variables, the Web surveys were less representative of the general population than Natsal-3. For example, for men, the average absolute OR for Natsal-3 was 1.14, whereas for the Web surveys the average absolute ORs ranged from 1.86 to 2.30. For all Web surveys, approximately two-thirds of the key estimates of sexual behaviors were different from Natsal-3 and the average absolute ORs ranged from 1.32 to 1.98. Differences were appreciable even for questions asked by CASI in Natsal-3. No single Web survey performed consistently better than any other did. Modified quotas slightly improved results for men, but not for women. ConclusionsConsistent with studies from other countries on less sensitive topics, volunteer Web panels provided appreciably biased estimates. The differences seen with Natsal-3 CASI questions, where mode effects may be similar, suggest a selection bias in the Web surveys. The use of more complex quotas may lead to some improvement, but many estimates are still likely to differ. Volunteer Web panels are not recommended if accurate prevalence estimates for the general population are a key objective.

Published
2014
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8. 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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9. Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients

Author

Hamad, Asma, Sherlaw-Sturrock, Charlotte A., Glover, Kate, Salmon, Rachel, Low, Karen, Nair, Ramya, Sansbury, Francis H., Rawlins, LettieE., Carmichael, Jenny, Horton, Rachael, Wedderburn, Sarah, Edgerley, Katherine, Irving, Rachel, Callaghan, Mary, Mercer, Catherine, McGowan, Ruth, Robert, Leema, Titheradge, Hannah, and Naik, Swati

Published
2023
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10. Accelerated partner therapy contact tracing for people with chlamydia (LUSTRUM): a crossover cluster-randomised controlled trial

Author

Estcourt, Claudia S, Stirrup, Oliver, Copas, Andrew, Low, Nicola, Mapp, Fiona, Saunders, John, Mercer, Catherine H, Flowers, Paul, Roberts, Tracy, Howarth, Alison R, Owusu, Melvina Woode, Symonds, Merle, Nandwani, Rak, Ogwulu, Chidubem, Brice, Susannah, Johnson, Anne M, Althaus, Christian L, Williams, Eleanor, Comer-Schwartz, Alex, Tostevin, Anna, and Cassell, Jackie A

Published
2022
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15. A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study

Author

Adams, Lisa, Adlard, Julian, Alfonso, Rosa, Ali, Saira, Andrew, Angela, Araújo, Luís, Azam, Nazya, Ball, Darran, Barker, Queenstone, Basevitch, Alon, Benton, Barbara, Berlin, Cheryl, Bermingham, Nicola, Biller, Leah, Bloss, Angela, Bradford, Matilda, Bradshaw, Nicola, Branson, Amy, Brendler, Charles, Brennan, Maria, Bulman, Barbara, Burgess, Lucy, Cahill, Declan, Callard, Alice, Calvo Verges, Nuria, Cardoso, Marta, Carter, Vanda, Catanzaro, Mario, Chamberlain, Anthony, Chapman, Cyril, Chong, Michael, Clark, Caroline, Clowes, Virginia, Cogley, Lyn, Cole, Trevor, Compton, Cecilia, Conner, Tom, Cookson, Sandra, Cornford, Philip, Costello, Philandra, Coulier, Laura, Davies, Michaela, Dechet, Christopher, DeSouza, Bianca, Devlin, Gemma, Douglas, Fiona, Douglas, Emma, Dudakia, Darshna, Duncan, Alexis, Ellery, Natalie, Everest, Sarah, Freemantle, Sue, Frydenberg, Mark, Fuller, Debbie, Gabriel, Camila, Gale, Madeline, Garcia, Lynda, Gay, Simona, Genova, Elena, George, Angela, Georgiou, Demetra, Gisbert, Alexandra, Gleeson, Margaret, Glover, Wayne, Gnanapragasam, Vincent, Goff, Sally, Goldgar, David, Gonçalves, Nuno, Goodman, Selina, Gorrie, Jennifer, Gott, Hannah, Grant, Anna, Gray, Catherine, Griffiths, Julie, Gupwell, Karin, Gurasashvili, Jana, Hanslien, Eldbjørg, Haraldsdottir, Sigurdis, Hart, Rachel, Hartigan, Catherine, Hawkes, Lara, Heaton, Tricia, Henderson, Alex, Henrique, Rui, Hilario, Kathrine, Hill, Kathryn, Hulick, Peter, Hunt, Clare, Hutchings, Melanie, Ibitoye, Rita, Inglehearn, Thomas, Ireland, Joanna, Islam, Farah, Ismail, Siti, Jacobs, Chris, James, Denzil, Jenkins, Sharon, Jobson, Irene, Johnstone, Anne, Jones, Oliver, Josefsberg Ben-Yehoshua, Sagi, Kaemba, Beckie, Kaul, Karen, Kemp, Zoe, Kinsella, Netty, Klehm, Margaret, Kockelbergh, Roger, Kohut, Kelly, Kosicka-Slawinska, Monika, Kulkarni, Anjana, Kumar, Pardeep, Lam, Jimmy, LeButt, Mandy, Leibovici, Dan, Lim, Ramona, Limb, Lauren, Lomas, Claire, Longmuir, Mark, López, Consol, Magnani, Tiziana, Maia, Sofia, Maiden, Jessica, Male, Alison, Manalo, Merrie, Martin, Phoebe, McBride, Donna, McGuire, Michael, McMahon, Romayne, McNally, Claire, McVeigh, Terri, Melzer, Ehud, Mencias, Mark, Mercer, Catherine, Mitchell, Gillian, Mora, Josefina, Morton, Catherine, Moss, Cathryn, Murphy, Morgan, Murphy, Declan, Mzazi, Shumi, Nadolski, Maria, Newlin, Anna, Nogueira, Pedro, O'Keefe, Rachael, O'Toole, Karen, O'Connell, Shona, Ogden, Chris, Okoth, Linda, Oliveira, Jorge, Paez, Edgar, Palou, Joan, Park, Linda, Patel, Nafisa, Paulo Souto, João, Pearce, Allison, Peixoto, Ana, Perez, Kimberley, Petelin, Lara, Pichert, Gabriella, Poile, Charlotte, Potter, Alison, Preitner, Nadia, Purnell, Helen, Quinn, Ellen, Radice, Paolo, Rankin, Brigette, Rees, Katie, Renton, Caroline, Richardson, Kate, Risby, Peter, Rogers, Jason, Ruderman, Maggie, Ruiz, April, Sajoo, Anaar, Salvatore, Natale, Sands, Victoria, Sanguedolce, Francesco, Sattar, Ayisha, Saunders, Kathryn, Schofield, Lyn, Scott, Rodney, Searle, Anne, Sehra, Ravinder, Selkirk, Christina, Shackleton, Kylie, Shanley, Sue, Shaw, Adam, Shevrin, Daniel, Shipman, Hannah, Sidat, Zahirah, Siguake, Kas, Simon, Kate, Smyth, Courtney, Snadden, Lesley, Solanky, Nita, Solomons, Joyce, Sorrentino, Margherita, Stayner, Barbara, Stephenson, Robert, Stoffel, Elena, Thomas, Maggie, Thompson, Alan, Tidey, Lizzie, Tischkowitz, Marc, Torokwa, Audrey, Townshend, Sharron, Treherne, Katy, Tricker, Karen, Trinh, Quoc-Dien, Tripathi, Vishakha, Turnbull, Clare, Valdagni, Riccardo, Van As, Nicholas, Venne, Vickie, Verdon, Lizzie, Vitellaro, Marco, Vogel, Kristen, Walker, Lisa, Watford, Amy, Watt, Cathy, Weintroub, Ilana, Weiss, Shelly, Weissman, Scott, Weston, Michelle, Wiggins, Jennifer, Wise, Gillian, Woodhouse, Christopher, Yesildag, Pembe, Youngs, Alice, Yurgelun, Matthew, Zollo, Fabiana, Bancroft, Elizabeth K, Page, Elizabeth C, Brook, Mark N, Thomas, Sarah, Taylor, Natalie, Pope, Jennifer, McHugh, Jana, Jones, Ann-Britt, Karlsson, Questa, Merson, Susan, Ong, Kai Ren, Hoffman, Jonathan, Huber, Camilla, Maehle, Lovise, Grindedal, Eli Marie, Stormorken, Astrid, Evans, D Gareth, Rothwell, Jeanette, Lalloo, Fiona, Brady, Angela F, Bartlett, Marion, Snape, Katie, Hanson, Helen, James, Paul, McKinley, Joanne, Mascarenhas, Lyon, Syngal, Sapna, Ukaegbu, Chinedu, Side, Lucy, Thomas, Tessy, Barwell, Julian, Teixeira, Manuel R, Izatt, Louise, Suri, Mohnish, Macrae, Finlay A, Poplawski, Nicola, Chen-Shtoyerman, Rakefet, Ahmed, Munaza, Musgrave, Hannah, Nicolai, Nicola, Greenhalgh, Lynn, Brewer, Carole, Pachter, Nicholas, Spigelman, Allan D, Azzabi, Ashraf, Helfand, Brian T, Halliday, Dorothy, Buys, Saundra, Ramon y Cajal, Teresa, Donaldson, Alan, Cooney, Kathleen A, Harris, Marion, McGrath, John, Davidson, Rosemarie, Taylor, Amy, Cooke, Peter, Myhill, Kathryn, Hogben, Matthew, Aaronson, Neil K, Ardern-Jones, Audrey, Bangma, Chris H, Castro, Elena, Dearnaley, David, Dias, Alexander, Dudderidge, Tim, Eccles, Diana M, Green, Kate, Eyfjord, Jorunn, Falconer, Alison, Foster, Christopher S, Gronberg, Henrik, Hamdy, Freddie C, Johannsson, Oskar, Khoo, Vincent, Lilja, Hans, Lindeman, Geoffrey J, Lubinski, Jan, Axcrona, Karol, Mikropoulos, Christos, Mitra, Anita V, Moynihan, Clare, Ni Raghallaigh, Holly, Rennert, Gad, Collier, Rebecca, Offman, Judith, Kote-Jarai, Zsofia, and Eeles, Rosalind A

Published
2021
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16. Feasibility and acceptability of home-based self-collection of multiple vaginal swabs in a general population survey in Britain′s fourth National Survey of Sexual Attitudes and Lifestyles-4 (Natsal-4)

Author

Oeser, Clarissa, Beddows, Simon, Chang, Gwendolyn, Clifton, Soazig, Conolly, Anne, David, Alexandra, Dema, Emily, Field, Nigel, Gibbs, Jo, Hamilton, Rebecca, Light, Rebecca, Mercer, Catherine H., Panwar, Kavita, Roodt, Abraham, Sadler, Katherine, Sonnenberg, Pam, Unemo, Magnus, Oeser, Clarissa, Beddows, Simon, Chang, Gwendolyn, Clifton, Soazig, Conolly, Anne, David, Alexandra, Dema, Emily, Field, Nigel, Gibbs, Jo, Hamilton, Rebecca, Light, Rebecca, Mercer, Catherine H., Panwar, Kavita, Roodt, Abraham, Sadler, Katherine, Sonnenberg, Pam, and Unemo, Magnus

Abstract

Background: Despite greater sensitivity of vaginal swabs compared to urine for detection of STIs and high acceptability in clinical settings, acceptability and feasibility of home-based self-collected vaginal swabs for research are less certain. We undertook development work to test these attributes for self-collected vaginal swabs for Natsal-4, a probability sample, interviewer-administered, survey of the ritish population aged 16-59 years. Methods: We conducted two pilot studies in 2021-22. After completing an interview, all participants identifying as cisgender women were invited to provide three self-collected vaginal swabs, with procedures for providing samples during or afte rface-to-face interviews or after remote interviews. Samples were posted to the laboratory. Consent was provided with the understanding of non-return of results. Participants declining vaginal swabs were invited to provide urine. Interviewers were not clinically trained. Qualitative follow-up interviews were conducted with participants and interviewers provided feedback. Results: Of the 153 cisgender women interviewed, 77 (50%) agreed to provide a vaginal swab, and 22 preferred to provide urine, resulting in an overall biosample consent rate of 65%. Of these, 60 swabs and 18 urine samples were received (Figure), resulting in an overall response of 51% (39% for vaginal swabs). Of the 77 who consented to provide swabs, 43 (56%) were during face-to-face interviews, of which 95% were received, compared to 13 (17%) agreeing to collection after face-to-face with 54% received, and 21 (27%) choosing remote interviews with 57% received. Fourteen participants (10 provided swabs) gave follow-up interviews and seven interviewers provided feedback. Participants conveyed their motivation to support research by giving samples. Interviewers were surprised at participants’ willingness to provide swabs. Reasons for not providing a swab included the belief that it was uncomfortable, too intimate or not relev

Published
2024

17. Molecular genetic investigation of left ventricular outflow tract obstruction

Author

Mercer, Catherine, Wilson, David, O'kelly, Ita, and Lucassen, Anneke

Subjects
616.1
Abstract

Left Ventricular Outflow Tract Obstruction (LVOTO) is a significant subtype of Congenital Heart Disease (CHD) with these lesions accounting for 14% of all CHD. The associated mortality and morbidity associated with these lesions is significant with severe cases frequently fatal. Although a multifactorial aetiology for LVOTO has been proposed, there are multiple strands of evidence to suggest that LVOTO is in at least some cases monogenic. The use of chromosomal abnormalities such as balanced translocations is a recognised tool in the identification of disease genes. A patient was identified with LVOTO in association with a de novo balanced translocation, 46,XY,t(14;15)(q23;q26.3) dn and the regions surrounding the breakpoints on both chromosomes were considered candidate loci for a causative gene. Investigation of the breakpoints by FISH and by mapping of the breakpoint on derived chromosome 14 showed that NR2F2, a transcription factor with a role in development, was interrupted by the translocation. However, sequencing of NR2F2 in 112 DNA samples from patients with isolated LVOTO failed to show any additional mutations. Due to the possibility of a position effect, additional genes up to 2 Mb from the breakpoints were considered candidate genes and the mRNA expression in murine embryos was studied. mRNA expression patterns of Nr2f2 and Mctp2were identified consistent with a role in cardiac development. Subsequent sequencing of MCTP2 identified a single missense mutation in the LVOTO patient cohort, suggesting both genes may be involved in the aetiology of LVOTO. Immunohistochemistry of NR2F2 and MCTP2 also showed patterns consistent with a role for both proteins in cardiogenesis; NR2F2 expression included atrial myocardium and heart valves and MCTP2 in the ventricular myocardium. As copy number variation of NR2F2 and MCTP2 remained a further possible cause for LVOTO, DNA from 36 cases of isolated LVOTO with a normal karyotype and negative for mutations in NR2F2 or MCTP2, was interrogated using array Comparative Genomic Hybridisation. Although no CNVs of the region containing these genes were identified, the interruption of NR2F2 by a translocation and discovery of a mutation in MCTP2 suggests that variation in either gene may be a low frequency cause of LVOTO.

Published
2016

18. Methodology of Natsal-COVID Wave 2: A large, quasi-representative, longitudinal survey measuring the impact of COVID-19 on sexual and reproductive health in Britain

Author

Dema, Emily, primary, Conolly, Anne, additional, Willis, Malachi, additional, Copas, Andrew J., additional, Clifton, Soazig, additional, Blake, Margaret, additional, Riddell, Julie, additional, Bosó Pérez, Raquel, additional, Tanton, Clare, additional, Bonell, Chris, additional, Sonnenberg, Pam, additional, Mercer, Catherine H., additional, Mitchell, Kirstin R., additional, and Field, Nigel, additional

Published
2024
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24. De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Author

Chong, Jessica X, McMillin, Margaret J, Shively, Kathryn M, Beck, Anita E, Marvin, Colby T, Armenteros, Jose R, Buckingham, Kati J, Nkinsi, Naomi T, Boyle, Evan A, Berry, Margaret N, Bocian, Maureen, Foulds, Nicola, Uzielli, Maria Luisa Giovannucci, Haldeman-Englert, Chad, Hennekam, Raoul CM, Kaplan, Paige, Kline, Antonie D, Mercer, Catherine L, Nowaczyk, Malgorzata JM, Wassink-Ruiter, Jolien S Klein, McPherson, Elizabeth W, Moreno, Regina A, Scheuerle, Angela E, Shashi, Vandana, Stevens, Cathy A, Carey, John C, Monteil, Arnaud, Lory, Philippe, Tabor, Holly K, Smith, Joshua D, Shendure, Jay, Nickerson, Deborah A, Genomics, University of Washington Center for Mendelian, Bamshad, Michael J, Abecasis, Gonçalo R, Anderson, Peter, Blue, Elizabeth Marchani, Annable, Marcus, Browning, Brian L, Chen, Christina, Chin, Jennifer, Cooper, Gregory M, Davis, Colleen P, Frazar, Christopher, Harrell, Tanya M, He, Zongxiao, Jain, Preti, Jarvik, Gail P, Jimenez, Guillaume, Johanson, Eric, Jun, Goo, Kircher, Martin, Kolar, Tom, Krauter, Stephanie A, Krumm, Niklas, Leal, Suzanne M, Luksic, Daniel, McGee, Sean, O’Reilly, Patrick, Paeper, Bryan, Patterson, Karynne, Perez, Marcos, Phillips, Sam W, Pijoan, Jessica, Poel, Christa, Reinier, Frederic, Robertson, Peggy D, Santos-Cortez, Regie, Shaffer, Tristan, Shephard, Cindy, Siegel, Deborah L, Staples, Jeffrey C, Tackett, Monica, Underwood, Jason G, Wegener, Marc, Wang, Gao, Wheeler, Marsha M, and Yi, Qian

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Congenital Structural Anomalies, Pediatric, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Congenital, Arthrogryposis, Contracture, Craniofacial Dysostosis, Cytoskeletal Proteins, Exome, Extremities, Face, Female, Gene Frequency, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Infant, Ion Channels, Male, Membrane Proteins, Muscle Hypotonia, Mutation, Missense, Sodium Channels, University of Washington Center for Mendelian Genomics, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five individuals who had been putatively diagnosed with "DA2A with severe neurological abnormalities" and for whom congenital contractures of the limbs and face, hypotonia, and global developmental delay had resulted in early death in three cases; this is a unique condition that we now refer to as CLIFAHDD syndrome. Exome sequencing identified missense mutations in the sodium leak channel, non-selective (NALCN) in four families affected by CLIFAHDD syndrome. We used molecular-inversion probes to screen for NALCN in a cohort of 202 distal arthrogryposis (DA)-affected individuals as well as concurrent exome sequencing of six other DA-affected individuals, thus revealing NALCN mutations in ten additional families with "atypical" forms of DA. All 14 mutations were missense variants predicted to alter amino acid residues in or near the S5 and S6 pore-forming segments of NALCN, highlighting the functional importance of these segments. In vitro functional studies demonstrated that NALCN alterations nearly abolished the expression of wild-type NALCN, suggesting that alterations that cause CLIFAHDD syndrome have a dominant-negative effect. In contrast, homozygosity for mutations in other regions of NALCN has been reported in three families affected by an autosomal-recessive condition characterized mainly by hypotonia and severe intellectual disability. Accordingly, mutations in NALCN can cause either a recessive or dominant condition characterized by varied though overlapping phenotypic features, perhaps based on the type of mutation and affected protein domain(s).

Published
2015

27. Improving sexual health through partner notification: the LUSTRUM mixed-methods research Programme including RCT of accelerated partner therapy.

Author

Estcourt, Claudia S., Mapp, Fiona, Owusu, Melvina Woode, Low, Nicola, Flowers, Paul, Copas, Andrew, Roberts, Tracy E., Mercer, Catherine H., Saunders, John, Nandwani, Rak, Althaus, Christian L., Stirrup, Oliver, Symonds, Merle, Howarth, Alison R., Johnson, Anne M., Ogwulu, Chidubem Okeke, Pothoulaki, Maria, Vojt, Gabriele, Wayal, Sonali, and Brice, Susie

Published
2024
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32. The RESPECT study: a feasibility randomised controlled trial of a sexual health promotion intervention for people with serious mental illness in community mental health services in the UK

Author

Hughes, Elizabeth, Mitchell, Natasha, Gascoyne, Samantha, Moe-Byrne, Thirimon, Edmondson, Amanda, Coleman, Elizabeth, Millett, Lottie, Ali, Shehzad, Cournos, Francine, Dare, Ceri, Hewitt, Catherine, Johnson, Sonia, Kaur, Harminder Dosanjh, McKinnon, Karen, Mercer, Catherine, Nolan, Fiona, Walker, Charlotte, Wainberg, Milton, and Watson, Judith

Published
2020
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43. The age difference between spouses : cross-national and within-country variations

Author

Mercer, Catherine Heather

Subjects
306, Marriage customs
Abstract

This thesis examines the spousal age difference, which is defined as the male age at marriage minus the female age at marriage. Considerable variation is identified both between and within countries in the average age difference, as well as in its constituent parts. In addition, a greater association is observed cross-nationally between the age difference and the age at which females rather than males marry, while within countries, there is evidence of the opposite pattern. Several hypotheses have been proposed in the literature in an attempt to explain the variations in the age difference. However, these hypotheses have seldom been examined. This thesis examines three of the most common, theoretically complementary hypotheses. These are (1) that variations in the age difference reflect the age-sex structure of men and women eligible to marry; (2) the age difference is a by-product of factors associated with the timing of marriage; and (3) that the age difference reflects the status of women, which is associated with the idea that there are preferences regarding the age difference. The thesis begins by using aggregate-level data from the United Nations; WISTAT3 database to consider cross-national variations in the average age difference. The hypothesis that these variations reflect the status of women is then examined by considering associations between the age difference and hypothesised indicators of women's status. Given the continuing debate surrounding how women's status is conceptualised and measured, this analysis interprets women's status in several different ways. Some evidence in support of this hypothesis is observed, but not when considered in light of the association between female age at marriage and, in turn, the age difference and women's status. This thesis concludes that variations in the age difference tend to reflect the age-sex structure of men and women marrying. However, it is unlikely that these variations are also a by-product of factors associated with marriage timing. In addition, this thesis finds little evidence to support the popular women's status hypothesis, especially when considered net of the association between the age difference and women's age at marriage.

Published
2002

44. Sexting among British adults: a qualitative analysis of sexting as emotion work governed by ‘feeling rules’

Author

Macdowall, Wendy G., Reid, David S., Lewis, Ruth, Bosó Pérez, Raquel, Mitchell, Kirstin R., Maxwell, Karen J., Smith, Clarissa, Attwood, Feona, Gibbs, Jo, Hogan, Bernie, Mercer, Catherine H., Sonnenberg, Pam, and Bonell, Chris

Subjects
Health (social science), L300, Public Health, Environmental and Occupational Health
Abstract

Sexting has generated considerable public and professional interest with concerns centring on young people, and potential harms to mental and sexual health. Little research thus far has explored the practice among adults and none has focused on the cultural norms relating to the emotional experience of sexting across different ages and genders. We conducted 40 semi-structured interviews with a diverse sample of adults aged 18-59 years in Britain on the role of digital technologies in participants' sexual lives. In this paper, we draw on the accounts of 34 people with experience of sexting. We identified three main themes in participants' accounts related to the emotional aspects of sexting: (1) trust, (2) desire/intimacy and (3) shame. Under each theme, we identified motivations, 'feeling rules', and examples of 'emotion work' relating to the self, the other and the dyad. We conclude that there are shared cultural norms that constitute what appropriate sexting should feel like. Interventions aiming to minimise harms arising from sexting need to build on commonly held cultural conventions regarding the 'rules of the game' concerning feelings as well as behaviours.

Published
2022

46. Sexual and reproductive health in Britain during the first year of the COVID-19 pandemic: cross-sectional population survey (Natsal-COVID-Wave 2) and national surveillance data

Author

Mitchell, Kirstin R, primary, Willis, Malachi, additional, Dema, Emily, additional, Baxter, Andrew J, additional, Connolly, Anne, additional, Riddell, Julie, additional, Bosó Pérez, Raquel, additional, Clifton, Soazig, additional, Gibbs, Jo, additional, Tanton, Clare, additional, Geary, Rebecca, additional, Ratna, Natasha, additional, Mohammed, Hamish, additional, Unemo, Magnus, additional, Bonell, Christopher, additional, Copas, Andrew, additional, Sonnenberg, Pam, additional, Mercer, Catherine H, additional, and Field, Nigel, additional

Published
2023
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47. Contraceptive use and pregnancy planning in Britain during the first year of the COVID-19 pandemic: findings from a large, quasi-representative survey (Natsal-COVID)

Author

Baxter, Andrew J, primary, Geary, Rebecca S, additional, Dema, Emily, additional, Bosó Pérez, Raquel, additional, Riddell, Julie, additional, Willis, Malachi, additional, Conolly, Anne, additional, Oakley, Laura L, additional, Copas, Andrew J, additional, Gibbs, Jo, additional, Bonell, Christopher, additional, Sonnenberg, Pam, additional, Mercer, Catherine H, additional, Clifton, Soazig, additional, Field, Nigel, additional, and Mitchell, Kirsten, additional

Published
2023
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48. Difficulty accessing condoms because of the COVID-19 pandemic reported by gay, bisexual and other men who have sex with men in the UK: findings from a large, cross-sectional, online survey

Author

Brown, Jack RG, primary, Reid, David, additional, Howarth, Alison R, additional, Mohammed, Hamish, additional, Saunders, John, additional, Pulford, Caisey V, additional, Ogaz, Dana, additional, Hughes, Gwenda, additional, and Mercer, Catherine H, additional

Published
2023
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50. How did the COVID-19 pandemic affect access to condoms, chlamydia and HIV testing, and cervical cancer screening at a population level in Britain? (Natsal-COVID)

Author

Dema, Emily, Sonnenberg, Pam, Gibbs, Jo, Conolly, Anne, Willis, Malachi, Riddell, Julie, Pérez, Raquel Bosó, Copas, Andrew J., Tanton, Clare, Bonell, Chris, Oeser, Clarissa, Clifton, Soazig, Unemo, Magnus, Mercer, Catherine H., Mitchell, Kirstin R., Field, Nigel, Dema, Emily, Sonnenberg, Pam, Gibbs, Jo, Conolly, Anne, Willis, Malachi, Riddell, Julie, Pérez, Raquel Bosó, Copas, Andrew J., Tanton, Clare, Bonell, Chris, Oeser, Clarissa, Clifton, Soazig, Unemo, Magnus, Mercer, Catherine H., Mitchell, Kirstin R., and Field, Nigel

Abstract

Objectives: To investigate how differential access to key interventions to reduce STIs, HIV and their sequelae changed during the COVID-19 pandemic. Methods: British participants (18-59 years) completed a cross-sectional web survey 1 year (March-April 2021) after the initial lockdown in Britain. Quota-based sampling and weighting resulted in a quasi-representative population sample. We compared Natsal-COVID data with Natsal-3, a household-based probability sample cross-sectional survey (16-74 years) conducted in 2010-2012. Reported unmet need for condoms because of the pandemic and uptake of chlamydia testing/HIV testing/cervical cancer screening were analysed among sexually experienced participants (18-44 years) (n=3869, Natsal-COVID; n=8551, Natsal-3). ORs adjusted for age and other potential confounders describe associations with demographic and behavioural factors. Results: In 2021, 6.9% of women and 16.2% of men reported unmet need for condoms because of the pandemic. This was more likely among participants: aged 18-24 years, of black or black British ethnicity, and reporting same-sex sex (past 5 years) or one or more new relationships (past year). Chlamydia and HIV testing were more commonly reported by younger participants, those reporting condomless sex with new sexual partners and men reporting same-sex partners; a very similar distribution to 10 years previously (Natsal-3). However, there were differences during the pandemic, including stronger associations with chlamydia testing for men reporting same-sex partners; with HIV testing for women reporting new sexual partners and with cervical screening among smokers. Conclusions: Our study suggests differential access to key primary and secondary STI/HIV prevention interventions continued during the first year of the COVID-19 pandemic. However, there was not strong evidence that differential access has changed during the pandemic when compared with 2010-2012. While the pandemic might not have exacerbated ineq, Funding agencies:UK Research & Innovation (UKRI)Economic & Social Research Council (ESRC)National Institute for Health Research (NIHR)UCL Coronavirus Response FundUK Research & Innovation (UKRI)Medical Research Council UK (MRC) MC_UU_00022/3 SPHSU18

Published
2023
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