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1,051 results on '"Hayes, Ian"'

157. Rare causes of abdominal pain: a primer for the admitting general surgeon.

Author

Hamilton, Jordan, Milenkovski, Nicole, Martin, Katherine, Tully, Emma, Peng, Calvin, and Hayes, Ian

Subjects
ABDOMINAL pain, CHOLECYSTITIS, PAIN measurement, SURGEONS, PAIN management, SURGICAL diagnosis
Abstract

The broad uptake of the acute surgical unit (ASU) model of surgical care in Australia has resulted in general surgeons becoming increasingly involved in the management of patients with acute abdominal pain (AAP), some of whom will be labelled as having non‐specific abdominal pain (NSAP) (Kinnear N, Jolly S, Herath M, et al. The acute surgical unit: An updated systematic review and meta‐analysis. review. Int. J. Surg. 2021;94:106109; Lehane CW, Jootun RN, Bennett M, Wong S, Truskett P. Does an acute care surgical model improve the management and outcome of acute cholecystitis? ANZ J. Surg. 2010;80:438‐42). NSAP patients lack a clear diagnosis of surgical pathology based on standard clinical, laboratory and imaging work‐up, although they may require ASU admission for pain control and assessment. This article provides a review of uncommon conditions, presenting as AAP, that could possibly be mis‐labelled as NSAP, with a focus on aspects of the presentation that may aid diagnosis and management including specific demographic features, clinical findings, key investigations and initial treatment priorities for ASU clinicians. Ultimately, most of the conditions discussed will not require surgical intervention, however, they require a diagnosis to be made and initial treatment planning before on‐referral to the appropriate specialty. For the on‐call general surgeon, some knowledge of these conditions and an index of suspicion are invaluable for the prompt diagnosis and efficient management of these patients. [ABSTRACT FROM AUTHOR]

Published
2023
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163. Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6

Author

Gerber, Céline B., primary, Fliedner, Anna, additional, Bartsch, Oliver, additional, Berland, Siren, additional, Dewenter, Malin, additional, Haug, Marte, additional, Hayes, Ian, additional, Marin‐Reina, Purificacion, additional, Mark, Paul R., additional, Martinez‐Castellano, Francisco, additional, Maystadt, Isabelle, additional, Karadurmus, Deniz, additional, Steindl, Katharina, additional, Wiesener, Antje, additional, Zweier, Markus, additional, Sticht, Heinrich, additional, and Zweier, Christiane, additional

Published
2022
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165. Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6

Author

Gerber, Céline B, Fliedner, Anna, Bartsch, Oliver, Berland, Siren, Dewenter, Malin; https://orcid.org/0000-0001-8025-0736, Haug, Marte, Hayes, Ian, Marin‐Reina, Purificacion, Mark, Paul R, Martinez‐Castellano, Francisco, Maystadt, Isabelle, Karadurmus, Deniz, Steindl, Katharina; https://orcid.org/0000-0002-4425-3072, Wiesener, Antje, Zweier, Markus; https://orcid.org/0000-0001-8290-0413, Sticht, Heinrich; https://orcid.org/0000-0001-5644-045X, Zweier, Christiane, Gerber, Céline B, Fliedner, Anna, Bartsch, Oliver, Berland, Siren, Dewenter, Malin; https://orcid.org/0000-0001-8025-0736, Haug, Marte, Hayes, Ian, Marin‐Reina, Purificacion, Mark, Paul R, Martinez‐Castellano, Francisco, Maystadt, Isabelle, Karadurmus, Deniz, Steindl, Katharina; https://orcid.org/0000-0002-4425-3072, Wiesener, Antje, Zweier, Markus; https://orcid.org/0000-0001-8290-0413, Sticht, Heinrich; https://orcid.org/0000-0001-5644-045X, and Zweier, Christiane

Abstract

While inherited hemizygous variants in PHF6 cause X-linked recessive Borjeson-Forssman-Lehmann syndrome (BFLS) in males, de novo heterozygous variants in females are associated with an overlapping but distinct phenotype, including moderate to severe intellectual disability, characteristic facial dysmorphism, dental, finger and toe anomalies and linear skin pigmentation. By personal communication with colleagues, we assembled eleven additional females with BFLS due to variants in PHF6. We confirm the distinct phenotype to include variable intellectual disability, recognizable facial dysmorphism and other anomalies. We observed skewed X-inactivation in blood and streaky skin pigmentation compatible with functional mosaicism. Variants occurred de novo in ten individuals, of whom one was only mildly affected and transmitted it to her more severely affected daughter. The mutational spectrum comprises a 2-exon deletion, five truncating, one splice-site and three missense variants, the latter all located in the PHD2 domain and predicted to severely destabilize the domain structure. This observation supports the hypothesis of more severe variants in females contributing to gender-specific phenotypes in addition to or in combination with effects of X-inactivation and functional mosaicism. Therefore, our findings further delineate the clinical and mutational spectrum of female BFLS and provide further insights into possible genotype-phenotype correlations between females and males. Keywords: Borjeson-Forssman-Lehmann syndrome; PHF6; X-chromosomal; de novo.

Published
2022

176. Association between post-operative mobility restrictions and acute colonic pseudo-obstruction after spinal fixation in major trauma patients: A retrospective cohort study.

Author

Carroll, James, Hayes, Ian, and Read, David J

Subjects
*TRAUMA surgery, *VERTEBRAL fractures, *TRAUMA registries, *CONFOUNDING variables, *SURGICAL excision
Abstract

Acute colonic pseudo-obstruction (ACPO) is a common and potentially serious complication of surgical and trauma care. A possible contributor to ACPO development is impaired mobility. Major trauma patients, particularly those with spinal trauma, are at risk of prolonged mobility restrictions. The aim of this study was to assess the association between impaired mobility and the development of ACPO in major trauma patients undergoing acute thoraco-lumbar spinal fixation.A retrospective cohort study involving major trauma patients admitted to a tertiary trauma facility was performed. The Hospital Trauma Registry was utilised to identify consecutive major trauma patients having urgent thoraco-lumbar spinal fixation. ACPO was defined as dilation of the transverse colon >6 cm or caecum >9 cm without mechanical cause. Immobility was defined by proxy as surgeon-prescribed mobility restrictions. Analysis was performed using multivariable logistic regression.ACPO occurred in 34 of 454 patients studied (7.5%). Colonoscopic decompression was required twice. Neostigmine or surgical resection were not required. There was no ACPO-related mortality. On multivariable regression, adjusted for confounding variables, post-operative mobility restrictions were associated with a three-fold increase in odds of ACPO (odds ratio 3.1; 95% confidence interval 1.1–8.9, P = 0.04).ACPO was a common, although low-morbidity complication in this cohort. Surgically prescribed mobility restrictions were associated with higher odds of ACPO in major trauma patients having thoraco-lumbar spinal fixation. Attention should be given to early mobilisation, where possible, in these patients. [ABSTRACT FROM AUTHOR]

Published
2025
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182. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Author

Bournazos, Adam M., primary, Riley, Lisa G., additional, Bommireddipalli, Shobhana, additional, Ades, Lesley, additional, Akesson, Lauren S., additional, Al-Shinnag, Mohammad, additional, Alexander, Stephen I., additional, Archibald, Alison D., additional, Balasubramaniam, Shanti, additional, Berman, Yemima, additional, Beshay, Victoria, additional, Boggs, Kirsten, additional, Bojadzieva, Jasmina, additional, Brown, Natasha J., additional, Bryen, Samantha J., additional, Buckley, Michael F., additional, Chong, Belinda, additional, Davis, Mark R., additional, Dawes, Ruebena, additional, Delatycki, Martin, additional, Donaldson, Liz, additional, Downie, Lilian, additional, Edwards, Caitlin, additional, Edwards, Matthew, additional, Engel, Amanda, additional, Ewans, Lisa J., additional, Faiz, Fathimath, additional, Fennell, Andrew, additional, Field, Michael, additional, Freckmann, Mary-Louise, additional, Gallacher, Lyndon, additional, Gear, Russell, additional, Goel, Himanshu, additional, Goh, Shuxiang, additional, Goodwin, Linda, additional, Hanna, Bernadette, additional, Harraway, James, additional, Higgins, Megan, additional, Ho, Gladys, additional, Hopper, Bruce K., additional, Horton, Ari E., additional, Hunter, Matthew F., additional, Huq, Aamira J., additional, Josephi-Taylor, Sarah, additional, Joshi, Himanshu, additional, Kirk, Edwin, additional, Krzesinski, Emma, additional, Kumar, Kishore R., additional, Lemckert, Frances, additional, Leventer, Richard J., additional, Lindsey-Temple, Suzanna E., additional, Lunke, Sebastian, additional, Ma, Alan, additional, Macaskill, Steven, additional, Mallawaarachchi, Amali, additional, Marty, Melanie, additional, Marum, Justine E., additional, McCarthy, Hugh J., additional, Menezes, Manoj P., additional, McLean, Alison, additional, Milnes, Di, additional, Mohammad, Shekeeb, additional, Mowat, David, additional, Niaz, Aram, additional, Palmer, Elizabeth E., additional, Patel, Chirag, additional, Patel, Shilpan G., additional, Phelan, Dean, additional, Pinner, Jason R., additional, Rajagopalan, Sulekha, additional, Regan, Matthew, additional, Rodgers, Jonathan, additional, Rodrigues, Miriam, additional, Roxburgh, Richard H., additional, Sachdev, Rani, additional, Roscioli, Tony, additional, Samarasekera, Ruvishani, additional, Sandaradura, Sarah A., additional, Savva, Elena, additional, Schindler, Tim, additional, Shah, Margit, additional, Sinnerbrink, Ingrid B., additional, Smith, Janine M., additional, Smith, Richard J., additional, Springer, Amanda, additional, Stark, Zornitza, additional, Strom, Samuel P., additional, Sue, Carolyn M., additional, Tan, Kenneth, additional, Tan, Tiong Y., additional, Tantsis, Esther, additional, Tchan, Michel C., additional, Thompson, Bryony A., additional, Trainer, Alison H., additional, van Spaendonck-Zwarts, Karin, additional, Walsh, Rebecca, additional, Warwick, Linda, additional, White, Stephanie, additional, White, Susan M., additional, Williams, Mark G., additional, Wilson, Meredith J., additional, Wong, Wui Kwan, additional, Wright, Dale C., additional, Yap, Patrick, additional, Yeung, Alison, additional, Young, Helen, additional, Jones, Kristi J., additional, Bennetts, Bruce, additional, Cooper, Sandra T., additional, Abdulrasool, Ghusoon, additional, Al Eryani, Ghamdan, additional, Arts, Peer, additional, Bagnall, Richard, additional, Baker, Naomi L., additional, Barnett, Christopher, additional, Beecroft, Sarah, additional, Berbic, Marina, additional, Black, Michael, additional, Blackburn, Jim, additional, Blombery, Piers, additional, Bournazos, Adam M., additional, Branford, Susan, additional, Breen, Jimmy, additional, Burnett, Leslie, additional, Canson, Daffodil, additional, Cheong, Pak, additional, Chew, Edward, additional, Christodoulou, John, additional, Chung, Seo-Kyung, additional, Clark, Mike, additional, Cliffe, Corrina, additional, Cole, Melissa, additional, Collins, Felicity, additional, Compton, Alison, additional, Cooper, Antony, additional, Corbett, Mark, additional, Cowley, Mark, additional, Dudding, Tracy, additional, Eggers, Stefanie, additional, Eyras, Eduardo, additional, Fernandez, Miriam Fanjul, additional, Fellowes, Andrew, additional, Fleischer, Ron, additional, Folland, Chiara, additional, Fox, Lucy, additional, Gaff, Clara, additional, Galea, Melanie, additional, Ghaoui, Roula, additional, Gornanitis, Ilias, additional, Ha, Thuong, additional, Hayashi, Rippei, additional, Hayes, Ian, additional, Henderson, Alex, additional, Hesson, Luke, additional, Heyer, Erin, additional, Hildebrand, Michael, additional, Hipwell, Michael, additional, Hoskins, Cass, additional, Jackson, Matilda, additional, James, Paul, additional, Wong, Justin Jong-Leong, additional, Kassahn, Karin, additional, Kaub, Peter, additional, Kevin, Lucy, additional, Kumble, Smitha, additional, Kummerfeld, Sarah, additional, Laing, Nigel, additional, Lau, Chiyan, additional, Lee, Eric, additional, Leighton, Sarah, additional, Lundie, Ben, additional, Mayoh, Chelsea, additional, McGaughran, Julie, additional, McPhillips, Mary, additional, Meldrum, Cliff, additional, Middleton, Edwina, additional, Mina, Kym, additional, Nisselle, Amy, additional, Oates, Emily, additional, Oshlack, Alicia, additional, Parasivam, Gayathri, additional, Parsons, Michael, additional, Quinn, Michael, additional, Rasko, John, additional, Ravenscroft, Gina, additional, Ravine, Anja, additional, Recsei, Krista, additional, Rehn, Jacqueline, additional, Robertson, Stephen, additional, Ronan, Anne, additional, Ryland, Georgina, additional, Sadedin, Simon, additional, Schreiber, Andreas, additional, Scott, Hamish, additional, Scott, Rodney, additional, Semsarian, Christopher, additional, Simons, Cas, additional, Singer, Emma, additional, Smyth, Renee, additional, Spurdle, Amanda, additional, Sullivan, Patricia, additional, Sundercombe, Samantha, additional, Thorburn, David, additional, Toubia, John, additional, Trent, Ronald, additional, Tudini, Emma, additional, Voneague, Irina, additional, Waddell, Leigh, additional, Walker, Logan, additional, Wallis, Mathew, additional, Warnock, Nick, additional, Weatheritt, Robert, additional, White, Deborah, additional, Winship, Ingrid, additional, Worgan, Lisa, additional, Wu, Kathy, additional, and Ziolowski, Andrew, additional

Published
2022
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183. Resilience building to COVID-19 in the Pacific : a Cook Islands case study

Author

Cooke, Natalie, Hayes, Ian, and Moncada, Stefano

Subjects
COVID-19 (Disease) -- Cook Islands, Organizational resilience -- Cook Islands, COVID-19 Pandemic, 2020- -- Cook Islands, Cook Islands -- Economic conditions
Abstract

As a nation that has placed a strong focus on resilience and institution-building over the past decade, the Cook Islands provides a robust foundation for considering resilience building in an island context. An interpretative case study approach is adopted to explore the steps that the Cook Islands has taken to build resilience in the context of the COVID-19 pandemic and the country’s response to the resulting economic shock. The study highlights the strengths of islands in building resilience – adaptability and flexibility, utilising their small size to respond effectively, as well as the challenges that they face, such as population, human resource, and skills constraints. In exploring these strengths and weaknesses, the authors arrive at a key observation – that resilience building in the Cook Islands requires a holistic lens; ad hoc sectoral, policy or infrastructure responses alone are not sufficient – an actively applied and supported integrated approach is the key to successfully building resilience., peer-reviewed

Published
2021

189. Ubiquitous spin freezing in the superconducting state of UTe2.

Author

Sundar, Shyam, Azari, Nasrin, Goeks, Mariah R., Gheidi, Shayan, Abedi, Mae, Yakovlev, Michael, Dunsiger, Sarah R., Wilkinson, John M., Blundell, Stephen J., Metz, Tristin E., Hayes, Ian M., Saha, Shanta R., Lee, Sangyun, Woods, Andrew J., Movshovich, Roman, Thomas, Sean M., Butch, Nicholas P., Rosa, Priscila F. S., Paglione, Johnpierre, and Sonier, Jeff E.

Subjects
MUON spin rotation, COOPER pair, SPECIFIC heat, FREEZING, SINGLE crystals, MAJORANA fermions
Abstract

In most superconductors electrons form Cooper pairs in a spin-singlet state mediated by either phonons or by long-range interactions such as spin fluctuations. The superconductor UTe2 is a rare material wherein electrons are believed to form pairs in a unique spin-triplet state with potential topological properties. While spin-triplet pairing may be mediated by ferromagnetic or antiferromagnetic fluctuations, experimentally, the magnetic properties of UTe2 are unclear. By way of muon spin rotation/relaxation (μSR) measurements on independently grown UTe2 single crystals we demonstrate the existence of magnetic clusters that gradually freeze into a disordered spin frozen state at low temperatures. Our findings suggest that inhomogeneous freezing of magnetic clusters is linked to the ubiquitous residual linear term in the temperature dependence of the specific heat (C) and the low-temperature upturn in C/T versus T. The omnipresent magnetic inhomogeneity has potential implications for experiments aimed at establishing the intrinsic low-temperature properties of UTe2. UTe2 receives significant attention as it may be an example of a spin-triplet superconductor but many features of this material are still to be fully understood. Here, the authors use muon spin rotation to investigate the existence of low-temperature magnetic clusters in single crystals of UTe2 and discuss the potential relationship with the temperature dependent behaviour of the specific heat. [ABSTRACT FROM AUTHOR]

Published
2023
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190. Ian Russell and Anna Kearney Guigne (eds.). Crossing Over: Fiddle and Dance Studies from Around the North Atlantic 3

Author

Hayes, Ian

Subjects
Crossing Over: Fiddle and Dance Studies from Around the North Atlantic 3 (Nonfiction work) -- Russell, Ian -- Kearney, Anna -- Book reviews, Rannsachadh na Gaidhlig 5: Fifth Scottish Gaelic Research Conference (Nonfiction work) -- Nilsen, Kenneth E. -- Book reviews, Anthropology/archeology/folklore, Ethnic, cultural, racial issues/studies
Abstract

Ian Russell and Anna Kearney Guigné (eds.). Crossing Over: Fiddle and Dance Studies from Around the North Atlantic 3. (Aberdeen: Elphinstone Institute and St. John's: Memorial University, 2010. Pp. 317, [...]

Published
2013

194. 'You have to strike that balance between sharing and charging': Cape Breton fiddling and intellectual property rights

Author

Hayes, Ian

Subjects
Copyright, Music industry, Intellectual property law, Patent/copyright issue, Anthropology/archeology/folklore, Ethnic, cultural, racial issues/studies, Canadian Musical Reproduction Rights Agency
Abstract

This article will discuss the concept of musical ownership and copyright in the Cape Breton fiddling tradition. Intellectual property rights have become an increasingly important issue in recent years and [...]

Published
2011

197. De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Author

Vissers, Lisenka E.L.M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kirsty, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E.V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Vernon, Hilary J., Brunet, Kendra, Ruivenkamp, Claudia, Kant, Sarina G., Kruszka, Paul, Larson, Austin, Afenjar, Alexandra, Billette de Villemeur, Thierry, Nugent, Kimberly, Raymond, F. Lucy, Venselaar, Hanka, Demurger, Florence, Soler-Alfonso, Claudia, Li, Dong, Bhoj, Elizabeth, Hayes, Ian, Hamilton, Nina Powell, Ahmad, Ayesha, Fisher, Rachel, van den Born, Myrthe, Willems, Marjolaine, Sorlin, Arthur, Delanne, Julian, Moutton, Sebastien, Christophe, Philippe, Mau-Them, Frederic Tran, Vitobello, Antonio, Goel, Himanshu, Massingham, Lauren, Phornphutkul, Chanika, Schwab, Jennifer, Keren, Boris, Charles, Perrine, Vreeburg, Maaike, De Simone, Lenika, Hoganson, George, Iascone, Maria, Milani, Donatella, Evenepoel, Lucie, Revencu, Nicole, Ward, D. Isum, Burns, Kaitlyn, Krantz, Ian, Raible, Sarah E., Murrell, Jill R., Wood, Kathleen, Cho, Megan T., van Bokhoven, Hans, Muenke, Maximilian, Kleefstra, Tjitske, Bodmer, Rolf, and de Brouwer, Arjan P.M.

Published
2020
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