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3. Dignity and the legal justification of age discrimination in health care

Author

Horton, Rachel

Subjects
340
Abstract

Evidence shows that age discrimination in health care is still widespread. At the same time, there has been suggestion, both in the theoretical literature and in the jurisprudence, that age is ‘different’ to other protected characteristics such as sex and race and thus that age discrimination may sometimes be permissible in circumstances in which discrimination on other grounds, such as sex or race, may not. This is chiefly because, it is argued, if a ‘complete life view’ of equality is taken, age discrimination may not produce the same distributive inequalities as does discrimination on other grounds. This thesis responds to these arguments by asking what other – dignity-related - harms, age based distinctions in health care may cause. Dignity is widely agreed to be an important normative foundation for anti-discrimination law and features prominently in judicial and ethical debate on a range of issues in medical law. It is not an easy concept to define, however. There is no legal or theoretical consensus as to its meaning and legal uses of dignity involve appeal to a range of different and sometimes conflicting concepts. Rather than advocating one particular conception of dignity, the thesis identifies the variety of meanings of dignity evident in two contexts of close relevance to the problem at hand - equality law and medical law – and considers the answers to which these different meanings may give rise. The purpose of the discussion is to contribute to a debate as to the approach that courts should take in assessing whether particular instances of age discrimination in health care can be justified. It concludes that, on several conceptions of dignity, age-based distinctions may give rise to dignity harms which cannot be ignored or discounted by taking a complete life view of equality. As a result, courts should tread carefully before adopting a starting point which assumes age to be different and should develop their approach to justification accordingly.

Published
2016

5. Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice.

Author

Redman, Melody Grace, Horton, Rachel Helen, Carley, Helena, and Lucassen, Anneke

Abstract

Background The terms ancestry, race and ethnicity are used variably within the medical literature and within society and clinical care. Biological lineage can provide an important context for the interpretation of genomic data, but the language used, and practices around when to ascertain this, vary. Methods Using a fictional case scenario we explore the relevance of questions around ancestry, race and ethnicity in clinical genetic practice. Results In the UK, data on 'ethnicity' are routinely collected by those using genomic medicine, as well as within the wider UK National Health Service, although the reasons for this are not always clear to practitioners and patients. Sometimes it is requested as a proxy for biological lineage to aid variant interpretation, refine estimations of carrier frequency and guide decisions around the need for pharmacogenetic testing. Conclusion There are many challenges around the use and utility of these terms. Currently, genomic databases are populated primarily with data from people of European descent, and this can lead to health disparities and poorer service for minoritised or underserved populations. Sensitivity and consideration are needed when communicating with patients around these areas. We explore the role and relevance of language around biological lineage in clinical genetics practice. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Appendiceal ganglioneuroma incidentally found during resection of recurrent rectal cancer: case report and review of the literature.

Author

Pachon, Mauricio E Perez, Horton, Rachel, and Rumer, Kristen K

Subjects
*LITERATURE reviews, *APPENDIX (Anatomy), *PELVIC exenteration, *RECTAL cancer, *ONCOLOGIC surgery, *NEURAL crest
Abstract

Ganglioneuromas (GN) are benign neuroblastic tumors that arise from neural crest cells. Since they present with nonspecific symptoms, diagnosis is often incidental. We are reporting a case of an adult appendiceal GN incidentally found during rectal cancer surgery. A 42-year-old male was diagnosed with recurrent rectal cancer after experiencing urinary difficulties and buttock pain. A multiple-stage pelvic exenteration was carried out after neoadjuvant chemotherapy and chemoradiation. Prophylactic appendectomy was done during the course of surgery, and pathology reported an appendix with GN at the distal tip. GN are often found incidentally and rarely cause appendicitis. Depending on their location and size, they might become symptomatic. While there is some controversy on whether surgery is the treatment of choice for all GN, diagnosis is rarely apparent preoperatively, and all appendiceal masses should be resected. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Ethical issues raised by new genomic technologies: the case study of newborn genome screening.

Author

Horton, Rachel and Lucassen, Anneke

Subjects
*NEWBORN screening, *GENETIC code, *NUCLEOTIDE sequencing, *HEALTH services accessibility, *QUALITY of life, *INFANTS
Abstract

Over the last two decades, the ability to sequence a person's genetic code has improved exponentially, while the cost of doing so has plummeted. As genome sequencing is used more widely, diagnoses are being found for people with previously unexplained rare disease, and this has raised hopes that such analysis might usefully be employed to detect and mitigate diseases as early as possible in the life course. However, research with adults by initiatives such as population biobanks should shake our confidence in our ability to make clear health predictions from a genetic code - in many cases, we are learning that the links between genomic variants and disease are far less strong than we once thought. The UK Newborn Genomes Programme aspires to sequence up to 200,000 babies at birth, and analyse their genomic data aiming to identify 'actionable genetic conditions which may affect their health in early years. This aims to ensure timely diagnosis, access to treatment pathways, and enable better outcomes and quality of life for babies and their families' (Genomics England, 2021). This is a laudable aim, but the path from obtaining genome sequences to enabling better outcomes will not be straightforward and illustrates many of the ethical challenges raised by the use of new genomic technologies. We focus particularly on the challenge of determining 'results' from the analysis of a genetic code, against a backdrop of promotional public discourses which tend to amplify best case scenarios from genome sequencing while minimising its potential to generate uncertainty. [ABSTRACT FROM AUTHOR]

Published
2023
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17. Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Author

Wai, Htoo A, Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G, Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N Simon, Bunyan, David J, Douglas, Andrew G L, Baralle, Diana, Naik, Swati, Ragge, Nicola, Cox, Helen, Morton, Jenny E., O'Driscoll, Mary, Lim, Derek, Osio, Deborah, Elmslie, Frances, Huber, Camilla, Hewitt, Julie, Brandon, Heidy, McEntagart, Meriel, Mansour, Sahar, Lahiri, Nayana, Dempsey, Esther, Manalo, Merrie, Homfray, Tessa, Saggar, Anand, Li, Jin, Barwell, Julian, Chandler, Kate E., Briggs, Tracy, Douzgou, Sofia, Adlard, Julian, Kraus, Alison, Mehta, Sarju, Watford, Amy, Donaldson, Alan, Low, Karen, Jones, Gabriela, Dixit, Abhijit, King, Elizabeth, Shannon, Nora, Kaliakatsos, Marios, Joss, Shelagh, Balasubramanian, Meena, Johnson, Diana, Everest, Sarah, Salter, Claire, Harrison, Victoria, Wise, Gillian, Torokwa, Audrey, Sands, Victoria, Pyle, Esther, Thomas, Tessy, Lachlan, Katherine, Foulds, Nicola, Lotery, Andrew, Hammans, Simon R., Pond, Emily, Horton, Rachel, Kharbanda, Mira, Hunt, David, Thomas, Charlene, Side, Lucy, Willis, Catherine, Greville-Heygate, Stephanie, Mawby, Rebecca, Mercer, Catherine, Temple, Karen, Kinning, Esther, Bojovic, Ognjen, and Archer, L.

Subjects
RNA splicing, RNA Splicing, RNA-Seq, RNA/genetics, Computational biology, Biology, exons, Article, genetic diagnosis, 03 medical and health sciences, symbols.namesake, computational biology, splice, humans, Genetics (clinical), 030304 developmental biology, Sanger sequencing, 0303 health sciences, variant interpretation, 030305 genetics & heredity, RNA, Exon skipping, Reverse transcription polymerase chain reaction, genomic medicine, Agarose gel electrophoresis, symbols, mutation, RNA-seq
Abstract

Diagnosis of genetic disorders is hampered by large numbers of variants of uncertain significance (VUSs) identified through next-generation sequencing. Many such variants may disrupt normal RNA splicing. We examined effects on splicing of a large cohort of clinically identified variants and compared performance of bioinformatic splicing prediction tools commonly used in diagnostic laboratories. Two hundred fifty-seven variants (coding and noncoding) were referred for analysis across three laboratories. Blood RNA samples underwent targeted reverse transcription polymerase chain reaction (RT-PCR) analysis with Sanger sequencing of PCR products and agarose gel electrophoresis. Seventeen samples also underwent transcriptome-wide RNA sequencing with targeted splicing analysis based on Sashimi plot visualization. Bioinformatic splicing predictions were obtained using Alamut, HSF 3.1, and SpliceAI software. Eighty-five variants (33%) were associated with abnormal splicing. The most frequent abnormality was upstream exon skipping (39/85 variants), which was most often associated with splice donor region variants. SpliceAI had greatest accuracy in predicting splicing abnormalities (0.91) and outperformed other tools in sensitivity and specificity. Splicing analysis of blood RNA identifies diagnostically important splicing abnormalities and clarifies functional effects of a significant proportion of VUSs. Bioinformatic predictions are improving but still make significant errors. RNA analysis should therefore be routinely considered in genetic disease diagnostics.

Published
2020

22. Air pollution from industrial swine operations and blood pressure of neighboring residents

Author

Wing, Steve, Horton, Rachel Avery, and Rose, Kathryn M.

Subjects
Blood pressure -- Research -- Environmental aspects, Livestock industry -- Health aspects, Stress (Physiology) -- Risk factors, Air pollution -- Health aspects, Hypertension -- Risk factors, Environmental issues, Health
Abstract

BACKGROUND: Industrial swine operations emit odorant chemicals including ammonia, hydrogen sulfide ([H.sub.2]S), and volatile organic compounds. Malodor and pollutant concentrations have been associated with self-reported stress and altered mood in [...]

Published
2013

23. Integrating epidemiology, education and organizing for environmental justice: community health effects of industrial hog operations

Author

Wing, Steve, Horton, Rachel Avery, Muhammad, Naeema, Grant, Gary R., Tajik, Mansoureh, and Thu, Kendall

Subjects
Environmental justice -- Research, Swine breeders -- Health aspects, Public health -- Research, Government, Health care industry
Abstract

The environmental justice movement has stimulated community-driven research about the living and working conditions of people of color and low-income communities. We describe an epidemiological study designed to link research with community education and organizing for social justice. In eastern North Carolina, high-density industrial swine production occurs in communities of low-income people and people of color. We investigated relationships between the resulting pollution and the health and quality of life of the hog operations' neighbors. A repeat-measures longitudinal design, community involvement in data collection, and integration of qualitative and quantitative research methods helped promote data quality while providing opportunities for community education and organizing. Research could affect policy through its findings and its mobilization of communities.

Published
2008

27. Podocytes Produce and Secrete Functional Complement C3 and Complement Factor H

Author

Mühlig, Anne K., primary, Keir, Lindsay S., additional, Abt, Jana C., additional, Heidelbach, Hannah S., additional, Horton, Rachel, additional, Welsh, Gavin I., additional, Meyer-Schwesinger, Catherine, additional, Licht, Christoph, additional, Coward, Richard J., additional, Fester, Lars, additional, Saleem, Moin A., additional, and Oh, Jun, additional

Published
2020
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29. PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

Author

Bayat, Allan, primary, Knaus, Alexej, additional, Juul, Annika Wollenberg, additional, Dukic, Dejan, additional, Gardella, Elena, additional, Charzewska, Agnieszka, additional, Clement, Emma, additional, Hjalgrim, Helle, additional, Hoffman-Zacharska, Dorota, additional, Horn, Denise, additional, Horton, Rachel, additional, Hurst, Jane A., additional, Josifova, Dragana, additional, Larsen, Line H.G., additional, Lascelles, Karine, additional, Obersztyn, Ewa, additional, Pagnamenta, Alistair, additional, Pal, Deb K., additional, Pendziwiat, Manuela, additional, Ryten, Mina, additional, Taylor, Jenny, additional, Vogt, Julie, additional, Weber, Yvonne, additional, Krawitz, Peter M., additional, Helbig, Ingo, additional, Kini, Usha, additional, and Møller, Rikke S., additional

Published
2019
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31. Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Author

Begemann, Matthias, Rezwan, Faisal I., Beygo, Jasmin, Docherty, Louise E., Kolarova, Julia, Schroeder, Christopher, Buiting, Karin, Chokkalingam, Kamal, Degenhardt, Franziska, Wakeling, Emma L., Kleinle, Stephanie, González Fassrainer, Daniela, Oehl-Jaschkowitz, Barbara, Turner, Claire L. S., Patalan, Michal, Gizewska, Maria, Binder, Gerhard, Bich Ngoc, Can Thi, Chi Dung, Vu, Mehta, Sarju G., Baynam, Gareth, Hamilton-Shield, Julian P., Aljareh, Sara, Lokulo-Sodipe, Oluwakemi, Horton, Rachel, Siebert, Reiner, Elbracht, Miriam, Temple, Isabel Karen, Eggermann, Thomas, and Mackay, Deborah J. G.

Subjects
Beckwith-Wiedemann Syndrome, Medizin, multi-locus imprinting disorder, NLRP5, Infant, Newborn, Diseases, NLRP7, NLRP2, Genomic Imprinting, Protein-Arginine Deiminase Type 6, Pregnancy, Humans, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, PADI6, Chromosomes, Human, Pair 11, Infant, Newborn, DNA Methylation, Pedigree, genomic imprinting, Silver-Russell Syndrome, Protein-Arginine Deiminases, Beckwith-Wiedemann syndrome, Epigenetics, Female, Maternal Inheritance, Silver-Russell syndrome, Apoptosis Regulatory Proteins
Abstract

Journal of medical genetics 55(7), 497-504 (2018). doi:10.1136/jmedgenet-2017-105190, Published by BMJ Publishing Group, London

Published
2018

34. Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Author

Begemann, Matthias, primary, Rezwan, Faisal I, additional, Beygo, Jasmin, additional, Docherty, Louise E, additional, Kolarova, Julia, additional, Schroeder, Christopher, additional, Buiting, Karin, additional, Chokkalingam, Kamal, additional, Degenhardt, Franziska, additional, Wakeling, Emma L, additional, Kleinle, Stephanie, additional, González Fassrainer, Daniela, additional, Oehl-Jaschkowitz, Barbara, additional, Turner, Claire L S, additional, Patalan, Michal, additional, Gizewska, Maria, additional, Binder, Gerhard, additional, Bich Ngoc, Can Thi, additional, Chi Dung, Vu, additional, Mehta, Sarju G, additional, Baynam, Gareth, additional, Hamilton-Shield, Julian P, additional, Aljareh, Sara, additional, Lokulo-Sodipe, Oluwakemi, additional, Horton, Rachel, additional, Siebert, Reiner, additional, Elbracht, Miriam, additional, Temple, Isabel Karen, additional, Eggermann, Thomas, additional, and Mackay, Deborah J G, additional

Published
2018
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35. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Author

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

Published
2018
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39. Nonpharmacological Management of Procedural Pain in Infants and Young Children: An Abridged Cochrane Review

Author

Riddell, Rebecca Pillai, Racine, Nicole, Turcotte, Kara, Uman, Lindsay S, Horton, Rachel, Osmun, Laila Din, Kohut, Sara Ahola, Stuart, Jessica Hillgrove, Stevens, Bonnie, and Lisi, Diana

Subjects
Article Subject
Abstract

BACKGROUND: Acute pain and distress during medical procedures are commonplace for young children.OBJECTIVE: To assess the efficacy of nonpharmacological interventions for acute procedural pain in children up to three years of age.METHODS: Study inclusion criteria were: participants

Published
2011
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40. Burkholderia pseudomallei Penetrates the Brain via Destruction of the Olfactory and Trigeminal Nerves: Implications for the Pathogenesis of Neurological Melioidosis

Author

St. John, James A., primary, Ekberg, Jenny A. K., additional, Dando, Samantha J., additional, Meedeniya, Adrian C. B., additional, Horton, Rachel E., additional, Batzloff, Michael, additional, Owen, Suzzanne J., additional, Holt, Stephanie, additional, Peak, Ian R., additional, Ulett, Glen C., additional, Mackay-Sim, Alan, additional, and Beacham, Ifor R., additional

Published
2014
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41. Maternal variants in NLRPand other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Author

Begemann, Matthias, Rezwan, Faisal I, Beygo, Jasmin, Docherty, Louise E, Kolarova, Julia, Schroeder, Christopher, Buiting, Karin, Chokkalingam, Kamal, Degenhardt, Franziska, Wakeling, Emma L, Kleinle, Stephanie, González Fassrainer, Daniela, Oehl-Jaschkowitz, Barbara, Turner, Claire L S, Patalan, Michal, Gizewska, Maria, Binder, Gerhard, Bich Ngoc, Can Thi, Chi Dung, Vu, Mehta, Sarju G, Baynam, Gareth, Hamilton-Shield, Julian P, Aljareh, Sara, Lokulo-Sodipe, Oluwakemi, Horton, Rachel, Siebert, Reiner, Elbracht, Miriam, Temple, Isabel Karen, Eggermann, Thomas, and Mackay, Deborah J G

Abstract

BackgroundGenomic imprinting results from the resistance of germline epigenetic marks to reprogramming in the early embryo for a small number of mammalian genes. Genetic, epigenetic or environmental insults that prevent imprints from evading reprogramming may result in imprinting disorders, which impact growth, development, behaviour and metabolism. We aimed to identify genetic defects causing imprinting disorders by whole-exome sequencing in families with one or more members affected by multilocus imprinting disturbance.MethodsWhole-exome sequencing was performed in 38 pedigrees where probands had multilocus imprinting disturbance, in five of whom maternal variants in NLRP5have previously been found.ResultsWe now report 15 further pedigrees in which offspring had disturbance of imprinting, while their mothers had rare, predicted-deleterious variants in maternal effect genes, including NLRP2, NLRP7and PADI6. As well as clinical features of well-recognised imprinting disorders, some offspring had additional features including developmental delay, behavioural problems and discordant monozygotic twinning, while some mothers had reproductive problems including pregnancy loss.ConclusionThe identification of 20 putative maternal effect variants in 38 families affected by multilocus imprinting disorders adds to the evidence that maternal genetic factors affect oocyte fitness and thus offspring development. Testing for maternal-effect genetic variants should be considered in families affected by atypical imprinting disorders.

Published
2018
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42. Quorum Sensing Negatively Regulates Multinucleate Cell Formation during Intracellular Growth of Burkholderia pseudomallei in Macrophage-Like Cells

Author

Horton, Rachel E., primary, Grant, Gary D., additional, Matthews, Ben, additional, Batzloff, Michael, additional, Owen, Suzzanne J., additional, Kyan, Stephanie, additional, Flegg, Cameron P., additional, Clark, Amanda M., additional, Ulett, Glen C., additional, Morrison, Nigel, additional, Peak, Ian R., additional, and Beacham, Ifor R., additional

Published
2013
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