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3. Tackling algorithmic bias and promoting transparency in health datasets: the STANDING Together consensus recommendations

Author

Alderman, Joseph E, Palmer, Joanne, Laws, Elinor, McCradden, Melissa D, Ordish, Johan, Ghassemi, Marzyeh, Pfohl, Stephen R, Rostamzadeh, Negar, Cole-Lewis, Heather, Glocker, Ben, Calvert, Melanie, Pollard, Tom J, Gill, Jaspret, Gath, Jacqui, Adebajo, Adewale, Beng, Jude, Leung, Cassandra H, Kuku, Stephanie, Farmer, Lesley-Anne, Matin, Rubeta N, Mateen, Bilal A, McKay, Francis, Heller, Katherine, Karthikesalingam, Alan, Treanor, Darren, Mackintosh, Maxine, Oakden-Rayner, Lauren, Pearson, Russell, Manrai, Arjun K, Myles, Puja, Kumuthini, Judit, Kapacee, Zoher, Sebire, Neil J, Nazer, Lama H, Seah, Jarrel, Akbari, Ashley, Berman, Lew, Gichoya, Judy W, Righetto, Lorenzo, Samuel, Diana, Wasswa, William, Charalambides, Maria, Arora, Anmol, Pujari, Sameer, Summers, Charlotte, Sapey, Elizabeth, Wilkinson, Sharon, Thakker, Vishal, Denniston, Alastair, and Liu, Xiaoxuan

Published
2025
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5. Perceptions and attitudes of Children and Young People to Artificial Intelligence in Medicine

Author

Visram, Sheena, Leyden, Deirdre, Annesley, Oceiah, Bappa, Dauda, and Sebire, Neil J

Subjects
Computer Science - Human-Computer Interaction, J.3
Abstract

There is increasing interest in Artificial Intelligence and its application to medicine. Perceptions are less well-known, notably amongst children and young people. 21 members of a Young Persons Advisory Group for research, recommend creating an enabling environment with children and young people, through educational workshops with practical examples that use Artificial Intelligence to help, but not replace humans, address issues, build trust, and effectively communicate about potential opportunities., Comment: 6 Pages, 1 figure, 1 table

Published
2021

7. The value of standards for health datasets in artificial intelligence-based applications

Author

Arora, Anmol, Alderman, Joseph E., Palmer, Joanne, Ganapathi, Shaswath, Laws, Elinor, McCradden, Melissa D., Oakden-Rayner, Lauren, Pfohl, Stephen R., Ghassemi, Marzyeh, McKay, Francis, Treanor, Darren, Rostamzadeh, Negar, Mateen, Bilal, Gath, Jacqui, Adebajo, Adewole O., Kuku, Stephanie, Matin, Rubeta, Heller, Katherine, Sapey, Elizabeth, Sebire, Neil J., Cole-Lewis, Heather, Calvert, Melanie, Denniston, Alastair, and Liu, Xiaoxuan

Published
2023
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8. MotionInput v2.0 supporting DirectX: A modular library of open-source gesture-based machine learning and computer vision methods for interacting and controlling existing software with a webcam

Author

Kummen, Ashild, Li, Guanlin, Hassan, Ali, Ganeva, Teodora, Lu, Qianying, Shaw, Robert, Ratwatte, Chenuka, Zou, Yang, Han, Lu, Almazov, Emil, Visram, Sheena, Taylor, Andrew, Sebire, Neil J, Stott, Lee, Rogers, Yvonne, Roberts, Graham, and Mohamedally, Dean

Subjects
Computer Science - Computer Vision and Pattern Recognition, Computer Science - Graphics, Computer Science - Human-Computer Interaction, Computer Science - Machine Learning, D.2, I.4, J.3
Abstract

Touchless computer interaction has become an important consideration during the COVID-19 pandemic period. Despite progress in machine learning and computer vision that allows for advanced gesture recognition, an integrated collection of such open-source methods and a user-customisable approach to utilising them in a low-cost solution for touchless interaction in existing software is still missing. In this paper, we introduce the MotionInput v2.0 application. This application utilises published open-source libraries and additional gesture definitions developed to take the video stream from a standard RGB webcam as input. It then maps human motion gestures to input operations for existing applications and games. The user can choose their own preferred way of interacting from a series of motion types, including single and bi-modal hand gesturing, full-body repetitive or extremities-based exercises, head and facial movements, eye tracking, and combinations of the above. We also introduce a series of bespoke gesture recognition classifications as DirectInput triggers, including gestures for idle states, auto calibration, depth capture from a 2D RGB webcam stream and tracking of facial motions such as mouth motions, winking, and head direction with rotation. Three use case areas assisted the development of the modules: creativity software, office and clinical software, and gaming software. A collection of open-source libraries has been integrated and provide a layer of modular gesture mapping on top of existing mouse and keyboard controls in Windows via DirectX. With ease of access to webcams integrated into most laptops and desktop computers, touchless computing becomes more available with MotionInput v2.0, in a federated and locally processed method., Comment: 6 pages, 2 figures

Published
2021

9. Maternal PIGF and umbilical Dopplers predict pregnancy outcomes at diagnosis of early-onset fetal growth restriction

Author

Spencer, Rebecca, Maksym, Kasia, Hecher, Kurt, Marsal, Karel, Figueras, Francesc, Ambler, Gareth, Whitwell, Harry, Nene, Nuno Rocha, Sebire, Neil J., Hansson, Stefan R., Brodszki, Anke DiemerJana, Gratacos, Eduard, Ginsberg, Yuval, Weissbach, Tal, Peebles, Donald M., Zachary, Ian, Marlow, Neil, Huertas-Ceballos, Angela, and David, Anna L.

Subjects
Diagnosis, Usage, Physiological aspects, Measurement, Prognosis, Patient outcomes, Health aspects, Growth factors -- Measurement -- Physiological aspects -- Health aspects, Prenatal ultrasonography -- Usage, Pregnancy complications -- Prognosis, Fetal growth retardation -- Diagnosis -- Patient outcomes, Fetus -- Ultrasonic imaging -- Growth retardation, Pregnancy, Complications of -- Prognosis, Ultrasonics in obstetrics -- Usage
Abstract

Introduction The survival and growth of a fetus depends on placental provision of nutrients and waste exchange with the mother. When this system is impaired by inadequate transformation of the [...], BACKGROUND. Severe, early-onset fetal growth restriction (FGR) causes significant fetal and neonatal mortality and morbidity. Predicting the outcome of affected pregnancies at the time of diagnosis is difficult, thus preventing accurate patient counseling. We investigated the use of maternal serum protein and ultrasound measurements at diagnosis to predict fetal or neonatal death and 3 secondary outcomes: fetal death or delivery at or before 28+0 weeks, development of abnormal umbilical artery (UmA) Doppler velocimetry, and slow fetal growth. METHODS. Women with singleton pregnancies (n = 142, estimated fetal weights [EFWs] below the third centile, less than 600 g, 20+0 to 26+6 weeks of gestation, no known chromosomal, genetic, or major structural abnormalities) were recruited from 4 European centers. Maternal serum from the discovery set (n = 63) was analyzed for 7 proteins linked to angiogenesis, 90 additional proteins associated with cardiovascular disease, and 5 proteins identified through pooled liquid chromatography and tandem mass spectrometry. Patient and clinician stakeholder priorities were used to select models tested in the validation set (n = 60), with final models calculated from combined data. RESULTS. The most discriminative model for fetal or neonatal death included the EFW z score (Hadlock 3 formula/Marsal chart), gestational age, and UmA Doppler category (AUC, 0.91; 95% CI, 0.86-0.97) but was less well calibrated than the model containing only the EFW z score (Hadlock 3/Marsal). The most discriminative model for fetal death or delivery at or before 28+0 weeks included maternal serum placental growth factor (PlGF) concentration and UmA Doppler category (AUC, 0.89; 95% CI, 0.83-0.94). CONCLUSION. Ultrasound measurements and maternal serum PlGF concentration at diagnosis of severe, early-onset FGR predicted pregnancy outcomes of importance to patients and clinicians. TRIAL REGISTRATION. ClinicalTrials.gov NCT02097667. FUNDING. The European Union, Rosetrees Trust, Mitchell Charitable Trust.

Published
2023
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10. Clinical phenotypes and outcomes in children with multisystem inflammatory syndrome across SARS-CoV-2 variant eras: a multinational study from the 4CE consortium

Author

Aaron, James R., Adam, Atif, Agapito, Giuseppe, Albayrak, Adem, Albi, Giuseppe, Alessiani, Mario, Alloni, Anna, Amendola, Danilo F., Angoulvant, François, Anthony, Li LLJ., Aronow, Bruce J., Ashraf, Fatima, Atz, Andrew, Avillach, Paul, Panickan, Vidul Ayakulangara, Azevedo, Paula S., Badenes, Rafael, Balshi, James, Batugo, Ashley, Beaulieu-Jones, Brendin R., Beaulieu-Jones, Brett K., Bell, Douglas S., Bellasi, Antonio, Bellazzi, Riccardo, Benoit, Vincent, Beraghi, Michele, Bernal-Sobrino, José Luis, Bernaux, Mélodie, Bey, Romain, Bhatnagar, Surbhi, Blanco-Martínez, Alvar, Boeker, Martin, Bonzel, Clara-Lea, Booth, John, Bosari, Silvano, Bourgeois, Florence T., Bradford, Robert L., Brat, Gabriel A., Bréant, Stéphane, Brown, Nicholas W., Bruno, Raffaele, Bryant, William A., Bucalo, Mauro, Bucholz, Emily, Burgun, Anita, Cai, Tianxi, Cannataro, Mario, Carmona, Aldo, Cattelan, Anna Maria, Caucheteux, Charlotte, Champ, Julien, Chen, Jin, Chen, Krista Y., Chiovato, Luca, Chiudinelli, Lorenzo, Cho, Kelly, Cimino, James J., Colicchio, Tiago K., Cormont, Sylvie, Cossin, Sébastien, Craig, Jean B., Cruz-Bermúdez, Juan Luis, Cruz-Rojo, Jaime, Dagliati, Arianna, Daniar, Mohamad, Daniel, Christel, Das, Priyam, Devkota, Batsal, Dionne, Audrey, Duan, Rui, Dubiel, Julien, DuVall, Scott L., Esteve, Loic, Estiri, Hossein, Fan, Shirley, Follett, Robert W., Ganslandt, Thomas, García-Barrio, Noelia, Garmire, Lana X., Gehlenborg, Nils, Getzen, Emily J., Geva, Alon, Goh, Rachel SJ., González, Tomás González, Gradinger, Tobias, Gramfort, Alexandre, Griffier, Romain, Griffon, Nicolas, Grisel, Olivier, Gutiérrez-Sacristán, Alba, Guzzi, Pietro H., Han, Larry, Hanauer, David A., Haverkamp, Christian, Hazard, Derek Y., He, Bing, Henderson, Darren W., Hilka, Martin, Ho, Yuk-Lam, Holmes, John H., Honerlaw, Jacqueline P., Hong, Chuan, Huling, Kenneth M., Hutch, Meghan R., Issitt, Richard W., Jannot, Anne Sophie, Jouhet, Vianney, Kainth, Mundeep K., Kate, Kernan F., Kavuluru, Ramakanth, Keller, Mark S., Kennedy, Chris J., Kernan, Kate F., Key, Daniel A., Kirchoff, Katie, Klann, Jeffrey G., Kohane, Isaac S., Krantz, Ian D., Kraska, Detlef, Krishnamurthy, Ashok K., L'Yi, Sehi, Leblanc, Judith, Lemaitre, Guillaume, Lenert, Leslie, Leprovost, Damien, Liu, Molei, Will Loh, Ne Hooi, Long, Qi, Lozano-Zahonero, Sara, Luo, Yuan, Lynch, Kristine E., Mahmood, Sadiqa, Maidlow, Sarah E., Makoudjou, Adeline, Makwana, Simran, Malovini, Alberto, Mandl, Kenneth D., Mao, Chengsheng, Maram, Anupama, Maripuri, Monika, Martel, Patricia, Martins, Marcelo R., Marwaha, Jayson S., Masino, Aaron J., Mazzitelli, Maria, Mazzotti, Diego R., Mensch, Arthur, Milano, Marianna, Minicucci, Marcos F., Moal, Bertrand, Ahooyi, Taha Mohseni, Moore, Jason H., Moraleda, Cinta, Morris, Jeffrey S., Morris, Michele, Moshal, Karyn L., Mousavi, Sajad, Mowery, Danielle L., Murad, Douglas A., Murphy, Shawn N., Naughton, Thomas P., Breda Neto, Carlos Tadeu, Neuraz, Antoine, Newburger, Jane, Ngiam, Kee Yuan, Njoroge, Wanjiku FM., Norman, James B., Obeid, Jihad, Okoshi, Marina P., Olson, Karen L., Omenn, Gilbert S., Orlova, Nina, Ostasiewski, Brian D., Palmer, Nathan P., Paris, Nicolas, Patel, Lav P., Pedrera-Jiménez, Miguel, Pfaff, Ashley C., Pfaff, Emily R., Pillion, Danielle, Pizzimenti, Sara, Priya, Tanu, Prokosch, Hans U., Prudente, Robson A., Prunotto, Andrea, Quirós-González, Víctor, Ramoni, Rachel B., Raskin, Maryna, Rieg, Siegbert, Roig-Domínguez, Gustavo, Rojo, Pablo, Romero-Garcia, Nekane, Rubio-Mayo, Paula, Sacchi, Paolo, Sáez, Carlos, Salamanca, Elisa, Samayamuthu, Malarkodi Jebathilagam, Sanchez-Pinto, L. Nelson, Sandrin, Arnaud, Santhanam, Nandhini, Santos, Janaina C.C., Sanz Vidorreta, Fernando J., Savino, Maria, Schriver, Emily R., Schubert, Petra, Schuettler, Juergen, Scudeller, Luigia, Sebire, Neil J., Serrano-Balazote, Pablo, Serre, Patricia, Serret-Larmande, Arnaud, Shah, Mohsin A., Hossein Abad, Zahra Shakeri, Silvio, Domenick, Sliz, Piotr, Son, Jiyeon, Sonday, Charles, South, Andrew M., Sperotto, Francesca, Spiridou, Anastasia, Strasser, Zachary H., Tan, Amelia LM., Tan, Bryce W.Q., Tan, Byorn W.L., Tanni, Suzana E., Taylor, Deanne M., Terriza-Torres, Ana I., Tibollo, Valentina, Tippmann, Patric, Toh, Emma MS., Torti, Carlo, Trecarichi, Enrico M., Vallejos, Andrew K., Varoquaux, Gael, Vella, Margaret E., Verdy, Guillaume, Vie, Jill-Jênn, Visweswaran, Shyam, Vitacca, Michele, Wagholikar, Kavishwar B., Waitman, Lemuel R., Wang, Xuan, Wassermann, Demian, Weber, Griffin M., Wolkewitz, Martin, Wong, Scott, Xia, Zongqi, Xiong, Xin, Ye, Ye, Yehya, Nadir, Yuan, William, Zachariasse, Joany M., Zahner, Janet J., Zambelli, Alberto, Zhang, Harrison G., Zöller, Daniela, Zuccaro, Valentina, Zucco, Chiara, Li, Xiudi, Rofeberg, Valerie N., Elias, Matthew D., Laird-Gion, Jessica, and Newburger, Jane W.

Published
2023
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11. Characterization of long COVID temporal sub-phenotypes by distributed representation learning from electronic health record data: a cohort study

Author

Aaron, James R., Agapito, Giuseppe, Albayrak, Adem, Albi, Giuseppe, Alessiani, Mario, Alloni, Anna, Amendola, Danilo F., François Angoulvant, Anthony, Li L.L.J., Aronow, Bruce J., Ashraf, Fatima, Atz, Andrew, Avillach, Paul, Azevedo, Paula S., Balshi, James, Beaulieu-Jones, Brett K., Bell, Douglas S., Bellasi, Antonio, Bellazzi, Riccardo, Benoit, Vincent, Beraghi, Michele, Bernal-Sobrino, José Luis, Bernaux, Mélodie, Bey, Romain, Bhatnagar, Surbhi, Blanco-Martínez, Alvar, Bonzel, Clara-Lea, Booth, John, Bosari, Silvano, Bourgeois, Florence T., Bradford, Robert L., Brat, Gabriel A., Bréant, Stéphane, Brown, Nicholas W., Bruno, Raffaele, Bryant, William A., Bucalo, Mauro, Bucholz, Emily, Burgun, Anita, Cai, Tianxi, Cannataro, Mario, Carmona, Aldo, Caucheteux, Charlotte, Champ, Julien, Chen, Jin, Chen, Krista Y., Chiovato, Luca, Chiudinelli, Lorenzo, Cho, Kelly, Cimino, James J., Colicchio, Tiago K., Cormont, Sylvie, Cossin, Sébastien, Craig, Jean B., Cruz-Bermúdez, Juan Luis, Cruz-Rojo, Jaime, Dagliati, Arianna, Daniar, Mohamad, Daniel, Christel, Das, Priyam, Devkota, Batsal, Dionne, Audrey, Duan, Rui, Dubiel, Julien, DuVall, Scott L., Esteve, Loic, Estiri, Hossein, Fan, Shirley, Follett, Robert W., Ganslandt, Thomas, Barrio, Noelia García, Garmire, Lana X., Gehlenborg, Nils, Getzen, Emily J., Geva, Alon, Gradinger, Tobias, Gramfort, Alexandre, Griffier, Romain, Griffon, Nicolas, Grisel, Olivier, Gutiérrez-Sacristán, Alba, Han, Larry, Hanauer, David A., Haverkamp, Christian, Hazard, Derek Y., He, Bing, Henderson, Darren W., Hilka, Martin, Ho, Yuk-Lam, Holmes, John H., Hong, Chuan, Huling, Kenneth M., Hutch, Meghan R., Issitt, Richard W., Jannot, Anne Sophie, Jouhet, Vianney, Kavuluru, Ramakanth, Keller, Mark S., Kennedy, Chris J., Key, Daniel A., Kirchoff, Katie, Klann, Jeffrey G., Kohane, Isaac S., Krantz, Ian D., Kraska, Detlef, Krishnamurthy, Ashok K., L'Yi, Sehi, Le, Trang T., Leblanc, Judith, Lemaitre, Guillaume, Lenert, Leslie, Leprovost, Damien, Liu, Molei, Will Loh, Ne Hooi, Long, Qi, Lozano-Zahonero, Sara, Luo, Yuan, Lynch, Kristine E., Mahmood, Sadiqa, Maidlow, Sarah E., Makoudjou, Adeline, Malovini, Alberto, Mandl, Kenneth D., Mao, Chengsheng, Maram, Anupama, Martel, Patricia, Martins, Marcelo R., Marwaha, Jayson S., Masino, Aaron J., Mazzitelli, Maria, Mensch, Arthur, Milano, Marianna, Minicucci, Marcos F., Moal, Bertrand, Ahooyi, Taha Mohseni, Moore, Jason H., Moraleda, Cinta, Morris, Jeffrey S., Morris, Michele, Moshal, Karyn L., Mousavi, Sajad, Mowery, Danielle L., Murad, Douglas A., Murphy, Shawn N., Naughton, Thomas P., Breda Neto, Carlos Tadeu, Neuraz, Antoine, Newburger, Jane, Ngiam, Kee Yuan, Njoroge, Wanjiku F.M., Norman, James B., Obeid, Jihad, Okoshi, Marina P., Olson, Karen L., Omenn, Gilbert S., Orlova, Nina, Ostasiewski, Brian D., Palmer, Nathan P., Paris, Nicolas, Patel, Lav P., Pedrera-Jiménez, Miguel, Pfaff, Emily R., Pfaff, Ashley C., Pillion, Danielle, Pizzimenti, Sara, Prokosch, Hans U., Prudente, Robson A., Prunotto, Andrea, Quirós-González, Víctor, Ramoni, Rachel B., Raskin, Maryna, Rieg, Siegbert, Roig-Domínguez, Gustavo, Rojo, Pablo, Rubio-Mayo, Paula, Sacchi, Paolo, Sáez, Carlos, Salamanca, Elisa, Samayamuthu, Malarkodi Jebathilagam, Sanchez-Pinto, L. Nelson, Sandrin, Arnaud, Santhanam, Nandhini, Santos, Janaina C.C., Sanz Vidorreta, Fernando J., Savino, Maria, Schriver, Emily R., Schubert, Petra, Schuettler, Juergen, Scudeller, Luigia, Sebire, Neil J., Serrano-Balazote, Pablo, Serre, Patricia, Serret-Larmande, Arnaud, Shah, Mohsin, Hossein Abad, Zahra Shakeri, Silvio, Domenick, Sliz, Piotr, Son, Jiyeon, Sonday, Charles, South, Andrew M., Spiridou, Anastasia, Strasser, Zachary H., Tan, Amelia L.M., Tan, Bryce W.Q., Tan, Byorn W.L., Tanni, Suzana E., Taylor, Deanne M., Terriza-Torres, Ana I., Tibollo, Valentina, Tippmann, Patric, Toh, Emma M.S., Torti, Carlo, Trecarichi, Enrico M., Tseng, Yi-Ju, Vallejos, Andrew K., Varoquaux, Gael, Vella, Margaret E., Verdy, Guillaume, Vie, Jill-Jênn, Visweswaran, Shyam, Vitacca, Michele, Wagholikar, Kavishwar B., Waitman, Lemuel R., Wang, Xuan, Wassermann, Demian, Weber, Griffin M., Wolkewitz, Martin, Wong, Scott, Xia, Zongqi, Xiong, Xin, Ye, Ye, Yehya, Nadir, Yuan, William, Zambelli, Alberto, Zhang, Harrison G., Zo¨ller, Daniela, Zuccaro, Valentina, Zucco, Chiara, Mesa, Rebecca, and Verdy, Guillame

Published
2023
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12. Use of super resolution reconstruction MRI for surgical planning in Placenta accreta spectrum disorder: Case series

Author

Mufti, Nada, Chappell, Joanna, O'Brien, Patrick, Attilakos, George, Irzan, Hassna, Sokolska, Magda, Narayanan, Priya, Gaunt, Trevor, Humphries, Paul D., Patel, Premal, Whitby, Elspeth, Jauniaux, Eric, Hutchinson, J. Ciaran, Sebire, Neil J., Atkinson, David, Kendall, Giles, Ourselin, Sebastien, Vercauteren, Tom, David, Anna L., and Melbourne, Andrew

Published
2023
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14. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

Author

D'Gama, Alissa M, Mulhern, Sarah, Sheidley, Beth R, Boodhoo, Fadil, Buts, Sarah, Chandler, Natalie J, Cobb, Joanna, Curtis, Meredith, Higginbotham, Edward J, Holland, Jonathon, Khan, Tayyaba, Koh, Julia, Liang, Nicole S Y, McRae, Lyndsey, Nesbitt, Sarah E, Oby, Brandon T, Paternoster, Ben, Patton, Alistair, Rose, Graham, Scotchman, Elizabeth, Valentine, Rozalia, Wiltrout, Kimberly N, Hayeems, Robin Z, Jain, Puneet, Lunke, Sebastian, Marshall, Christian R, Rockowitz, Shira, Sebire, Neil J, Stark, Zornitza, White, Susan M, Chitty, Lyn S, Cross, J Helen, Scheffer, Ingrid E, Chau, Vann, Costain, Gregory, Poduri, Annapurna, Howell, Katherine B, and McTague, Amy

Published
2023
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19. Senescent cells evade immune clearance via HLA-E-mediated NK and CD8+ T cell inhibition.

Author

Pereira, Branca I, Devine, Oliver P, Vukmanovic-Stejic, Milica, Chambers, Emma S, Subramanian, Priya, Patel, Neil, Virasami, Alex, Sebire, Neil J, Kinsler, Veronica, Valdovinos, Alexis, LeSaux, Claude Jourdan, Passos, João F, Antoniou, Antony, Rustin, Malcom HA, Campisi, Judith, and Akbar, Arne N

Subjects
Killer Cells, Natural, CD8-Positive T-Lymphocytes, Fibroblasts, Skin, Dermis, Humans, Nevus, Pigmented, p38 Mitogen-Activated Protein Kinases, RNA, Small Interfering, Histocompatibility Antigens Class I, Cytokines, Signal Transduction, Aging, Phenotype, Adult, Aged, NK Cell Lectin-Like Receptor Subfamily C, Young Adult, In Vitro Techniques, Cellular Senescence, Killer Cells, Natural, Nevus, Pigmented, RNA, Small Interfering, MD Multidisciplinary
Abstract

Senescent cells accumulate in human tissues during ageing and contribute to age-related pathologies. The mechanisms responsible for their accumulation are unclear. Here we show that senescent dermal fibroblasts express the non-classical MHC molecule HLA-E, which interacts with the inhibitory receptor NKG2A expressed by NK and highly differentiated CD8+ T cells to inhibit immune responses against senescent cells. HLA-E expression is induced by senescence-associated secretary phenotype-related pro-inflammatory cytokines, and is regulated by p38 MAP kinase signalling in vitro. Consistently, HLA-E expression is increased on senescent cells in human skin sections from old individuals, when compared with those from young, and in human melanocytic nevi relative to normal skin. Lastly, blocking the interaction between HLA-E and NKG2A boosts immune responses against senescent cells in vitro. We thus propose that increased HLA-E expression contributes to persistence of senescent cells in tissues, thereby suggesting a new strategy for eliminating senescent cells during ageing.

Published
2019

21. The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development.

Author

Suntharalingham, Jenifer P., del Valle, Ignacio, Buonocore, Federica, McGlacken-Byrne, Sinead M., Brooks, Tony, Ogunbiyi, Olumide K., Liptrot, Danielle, Dunton, Nathan, Madhan, Gaganjit K., Metcalfe, Kate, Nel, Lydia, Marshall, Abigail R., Ishida, Miho, Sebire, Neil J., Moore, Gudrun E., Crespo, Berta, Solanky, Nita, Conway, Gerard S., and Achermann, John C.

Subjects
ASCENDING aorta aneurysms, LINCRNA, GENE expression, LIFE sciences, X chromosome
Abstract

Monosomy X (45,X) is associated with Turner syndrome and pregnancy loss in humans, but the underlying mechanisms remain unclear. We therefore undertook an exploratory study of the transcriptomic landscape of clinically relevant human fetal 45,X tissues (including pancreas, liver, kidney, skin, placenta) with matched 46,XX and 46,XY control samples between 11 and 15 weeks post conception (n = 78). Although most pseudoautosomal region 1 (PAR1) genes are lower in monosomy X tissues, we also found reduced expression of several key genes escaping X inactivation (e.g., KDM5C and KDM6A), several ancestral X-Y gene pairs, and potentially clinically important transcripts such as genes implicated in ascending aortic aneurysm. In contrast, higher expression of an autosomal, long non-coding RNA (OVCH1-AS1) is seen in all 45,X tissues. In the placenta, lower expression of CSF2RA is demonstrated, likely contributing to immune dysregulation. Taken together, these findings provide insights into the biological consequences of a single X chromosome during early human development and potential insights in genetic mechanisms in Turner syndrome. Transcriptomic analysis of monosomy X (45,X) tissues during early human fetal development provides insight into sex chromosome gene dosage and potential mechanisms and management in Turner syndrome. [ABSTRACT FROM AUTHOR]

Published
2025
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26. Local and systemic responses to SARS-CoV-2 infection in children and adults

Author

Yoshida, Masahiro, Worlock, Kaylee B., Huang, Ni, Lindeboom, Rik G. H., Butler, Colin R., Kumasaka, Natsuhiko, Dominguez Conde, Cecilia, Mamanova, Lira, Bolt, Liam, Richardson, Laura, Polanski, Krzysztof, Madissoon, Elo, Barnes, Josephine L., Allen-Hyttinen, Jessica, Kilich, Eliz, Jones, Brendan C., de Wilton, Angus, Wilbrey-Clark, Anna, Sungnak, Waradon, Pett, J. Patrick, Weller, Juliane, Prigmore, Elena, Yung, Henry, Mehta, Puja, Saleh, Aarash, Saigal, Anita, Chu, Vivian, Cohen, Jonathan M., Cane, Clare, Iordanidou, Aikaterini, Shibuya, Soichi, Reuschl, Ann-Kathrin, Herczeg, Iván T., Argento, A. Christine, Wunderink, Richard G., Smith, Sean B., Poor, Taylor A., Gao, Catherine A., Dematte, Jane E., Reynolds, Gary, Haniffa, Muzlifah, Bowyer, Georgina S., Coates, Matthew, Clatworthy, Menna R., Calero-Nieto, Fernando J., Göttgens, Berthold, O’Callaghan, Christopher, Sebire, Neil J., Jolly, Clare, De Coppi, Paolo, Smith, Claire M., Misharin, Alexander V., Janes, Sam M., Teichmann, Sarah A., Nikolić, Marko Z., and Meyer, Kerstin B.

Published
2022
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30. Early relapse of atypical hemolytic uremic syndrome following ABO-incompatible living-related pediatric kidney re-transplant successfully treated with eculizumab

Author

Stojanovic, Jelena, Adamusiak, Anna, Waters, Aoife, Sebire, Neil J., Kessaris, Nicos, Mamode, Nizam, and Marks, Stephen D.

Subjects
Testing, Complications and side effects, Development and progression, Risk factors, Patient outcomes, Health aspects, Eculizumab -- Testing, Hemolytic-uremic syndrome -- Risk factors -- Development and progression, Kidney transplantation -- Complications and side effects -- Patient outcomes, ABO blood-group system -- Health aspects, Kidneys -- Transplantation, Blood groups -- Health aspects
Abstract

Author(s): Jelena Stojanovic [sup.1] , Anna Adamusiak [sup.2] , Aoife Waters [sup.1] , Neil J. Sebire [sup.3] , Nicos Kessaris [sup.2] , Nizam Mamode [sup.2] , Stephen D. Marks [sup.1] [...], Background A 3-year-old girl with clinical features of atypical HUS (complement Factor I mutation inherited from an asymptomatic mother and Factor H autoantibodies) was treated with plasma exchange, progressed to kidney failure (KF) aged 4 years, and received an en bloc kidney DCD transplant aged 8 years with primary graft non-function necessitating transplant nephrectomy at the time of transplantation. She subsequently underwent re-transplantation from her father. This is a retrospective study of electronic patient records and medical notes. Case-Diagnosis/Treatment A 9-year-old girl received an ABO-incompatible (ABOi) living-related kidney transplant from her father with recipient and donor blood groups of O and A, respectively, with baseline recipient anti-A titers 1:128 reducing to 1:4 at the time of transplant with B lymphocyte depletion with rituximab and four sessions of immunoadsorption. Six hours post-transplant, she had recurrence of aHUS and received the first dose of eculizumab. She continues on monthly home eculizumab infusions with stable kidney allograft function and negative anti-A titers 7 years post-kidney transplantation. Conclusions This is the first report of a pediatric high-risk ABOi living-related kidney transplantation in whom early relapse of aHUS was successfully treated with eculizumab with good long-term patient and allograft outcome.

Published
2021
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32. Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype

Author

Polubothu, Satyamaanasa, Zecchin, Davide, Al-Olabi, Lara, Lionarons, Daniël A., Harland, Mark, Horswell, Stuart, Thomas, Anna C., Hunt, Lilian, Wlodarchak, Nathan, Aguilera, Paula, Brand, Sarah, Bryant, Dale, Carrera, Cristina, Chen, Hui, Elgar, Greg, Harwood, Catherine A., Howell, Michael, Larue, Lionel, Loughlin, Sam, MacDonald, Jeff, Malvehy, Josep, Barberan, Sara Martin, da Silva, Vanessa Martins, Molina, Miriam, Morrogh, Deborah, Moulding, Dale, Nsengimana, Jérémie, Pittman, Alan, Puig-Butillé, Joan-Anton, Parmar, Kiran, Sebire, Neil J., Scherer, Stephen, Stadnik, Paulina, Stanier, Philip, Tell, Gemma, Waelchli, Regula, Zarrei, Mehdi, Puig, Susana, Bataille, Véronique, Xing, Yongna, Healy, Eugene, Moore, Gudrun E., Di, Wei-Li, Newton-Bishop, Julia, Downward, Julian, and Kinsler, Veronica A.

Published
2021
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38. Outcomes of paediatric kidney transplant recipients using the updated 2013/2017 Banff histopathological classification for antibody-mediated rejection

Author

Preka, Evgenia, Sekar, Thivya, Lopez Garcia, Sergio C, Shaw, Olivia, Kessaris, Nicos, Mamode, Nizam, Stojanovic, Jelena, Sebire, Neil J., Kim, Jon Jin, and Marks, Stephen D.

Subjects
Complications and side effects, Risk factors, Patient outcomes, Health aspects, Pediatric research, Practice guidelines (Medicine), Kidney transplantation -- Patient outcomes -- Complications and side effects, Antibodies -- Health aspects, Graft rejection -- Risk factors, Kidneys -- Transplantation, Viral antibodies -- Health aspects
Abstract

Author(s): Evgenia Preka [sup.1] [sup.2] , Thivya Sekar [sup.3] , Sergio C Lopez Garcia [sup.1] , Olivia Shaw [sup.4] , Nicos Kessaris [sup.5] , Nizam Mamode [sup.5] , Jelena Stojanovic [...], Background After the major changes with regard to acute and chronic ABMR in the Banff classification initiated in 2013, there has been an improvement in diagnosing antibody-mediated rejection (ABMR) in adult studies but no data have been published in the paediatric population. Methods We assessed 56 paediatric kidney transplant biopsies due to kidney dysfunction in patients with donor-specific antibodies (DSA) in a retrospective single-centre study between January 2006 and March 2012. The results were compared with 2003/2007 Banff classification noting the subsequent 2017 and 2019 modifications do not change the 2013 Banff classification with regard to acute antibody-mediated rejection (apart from the addition of gene transcripts/classifiers that do not affect our analysis). Results Following the 2013 Banff classification, there were seven cases (12.5%) diagnosed with ABMR that would have been misclassified when applying the 2003/2007 classification. Evaluating the histological features of all ABMR-related cases, we report the importance of v- (intimal arteritis) and t- (tubulitis) lesions: absence of v- and t- lesions in the biopsy is related to significantly higher kidney allograft survival (OR 7.3, 95%CI 1.1-48.8, p = 0.03 and OR 5.3, 95%CI 1.2-25.5, p = 0.04 respectively). Moreover, absence of t- lesions was associated with significantly fewer rejection episodes the year after the initial biopsy (OR 5.1, 95%CI 1.4-19.8, p = 0.01). Conclusions Our study supports that the updated 2013 Banff classification shows superior clinicopathological correlation in identifying ABMR in paediatric kidney transplant recipients. Our results can be extrapolated to the recently updated 2019 Banff classification.

Published
2021
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44. Advanced three-dimensional X-ray imaging unravels structural development of the human thymus compartments

Author

Savvidis, S, Ragazzini, R, de Rafael, V, Hutchinson, J, Massimi, L, Vittoria, F, Campinoti, S, Partridge, T, Ogunbiyi, O, Atzeni, A, Sebire, N, De Coppi, P, Mittone, A, Bravin, A, Bonfanti, P, Olivo, A, Savvidis, Savvas, Ragazzini, Roberta, de Rafael, Valeria Conde, Hutchinson, J. Ciaran, Massimi, Lorenzo, Vittoria, Fabio A., Campinoti, Sara, Partridge, Tom, Ogunbiyi, Olumide K., Atzeni, Alessia, Sebire, Neil J., De Coppi, Paolo, Mittone, Alberto, Bravin, Alberto, Bonfanti, Paola, Olivo, Alessandro, Savvidis, S, Ragazzini, R, de Rafael, V, Hutchinson, J, Massimi, L, Vittoria, F, Campinoti, S, Partridge, T, Ogunbiyi, O, Atzeni, A, Sebire, N, De Coppi, P, Mittone, A, Bravin, A, Bonfanti, P, Olivo, A, Savvidis, Savvas, Ragazzini, Roberta, de Rafael, Valeria Conde, Hutchinson, J. Ciaran, Massimi, Lorenzo, Vittoria, Fabio A., Campinoti, Sara, Partridge, Tom, Ogunbiyi, Olumide K., Atzeni, Alessia, Sebire, Neil J., De Coppi, Paolo, Mittone, Alberto, Bravin, Alberto, Bonfanti, Paola, and Olivo, Alessandro

Abstract

Background: The thymus, responsible for T cell-mediated adaptive immune system, has a structural and functional complexity that is not yet fully understood. Until now, thymic anatomy has been studied using histological thin sections or confocal microscopy 3D reconstruction, necessarily for limited volumes. Methods: We used Phase Contrast X-Ray Computed Tomography to address the lack of whole-organ volumetric information on the microarchitecture of its structural components. We scanned 15 human thymi (9 foetal and 6 postnatal) with synchrotron radiation, and repeated scans using a conventional laboratory x-ray system. We used histology, immunofluorescence and flow cytometry to validate the x-ray findings. Results: Application to human thymi at pre- and post-natal stages allowed reliable tracking and quantification of the evolution of parameters such as size and distribution of Hassall's Bodies and medulla-to-cortex ratio, whose changes reflect adaptation of thymic activity. We show that Hassall's bodies can occupy 25% of the medulla volume, indicating they should be considered a third thymic compartment with possible implications on their role. Moreover, we demonstrate compatible results can be obtained with standard laboratory-based x-ray equipment, making this research tool accessible to a wider community. Conclusions: Our study allows overcoming the resolution and/or volumetric limitations of existing approaches for the study of thymic disfunction in congenital and acquired disorders affecting the adaptive immune system.

Published
2024

48. The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development

Author

Suntharalingham, Jenifer P, primary, del Valle, Ignacio, additional, Buonocore, Federica, additional, McGlacken-Byrne, Sinead M, additional, Brooks, Tony, additional, Ogunbiyi, Olumide K, additional, Liptrot, Danielle, additional, Dunton, Nathan, additional, Madhan, Gaganjit K, additional, Metcalfe, Kate, additional, Nel, Lydia, additional, Marshall, Abigail R, additional, Ishida, Miho, additional, Sebire, Neil J, additional, Moore, Gudrun E, additional, Crespo, Berta, additional, Solanky, Nita, additional, Conway, Gerard S, additional, and Achermann, John C, additional

Published
2024
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50. Childhood-Onset Asthma is Characterized by Airway Epithelial Hillock-to-Squamous Differentiation in Early Life

Author

Kersten, Elin T.G., primary, Pett, J. Patrick, additional, Malmström, Kristiina, additional, Chun, Yoojin, additional, Jonker, Marnix R., additional, Wilbrey-Clark, Anna, additional, Worlock, Kaylee B., additional, van den Berge, Maarten, additional, Vermeulen, Roel C.H., additional, Vonk, Judith, additional, Sebire, Neil J., additional, Lohi, Jouko, additional, Timens, W., additional, Teichmann, Sarah, additional, Bunyavanich, Supinda, additional, Nikolić, Marko Z., additional, Nawijn, Martijn C., additional, Makela, Mika, additional, Meyer, Kerstin, additional, and Koppelman, Gerard, additional

Published
2024
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