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1,603 results on '"Fitzpatrick, David"'

4. The Cousa objective: a long-working distance air objective for multiphoton imaging in vivo

Author

Yu, Che-Hang, Yu, Yiyi, Adsit, Liam M., Chang, Jeremy T., Barchini, Jad, Moberly, Andrew H., Benisty, Hadas, Kim, Jinkyung, Young, Brent K., Heng, Kathleen, Farinella, Deano M., Leikvoll, Austin, Pavan, Rishaab, Vistein, Rachel, Nanfito, Brandon R., Hildebrand, David G. C., Otero-Coronel, Santiago, Vaziri, Alipasha, Goldberg, Jeffrey L., Ricci, Anthony J., Fitzpatrick, David, Cardin, Jessica A., Higley, Michael J., Smith, Gordon B., Kara, Prakash, Nielsen, Kristina J., Smith, Ikuko T., and Smith, Spencer LaVere

Published
2024
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9. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Author

Ansari, Morad, Faour, Kamli N.W., Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M., Denhoff, Erica R., Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M., Firth, Helen, Breman, Amy M., Bijlsma, Emilia K., Iwata-Otsubo, Aiko, de Ravel, Thomy J.L., Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G., Haack, Tobias B., Korenke, G. Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M., Low, Karen J., Place, Emily, Humberson, Jennifer, Napier, Melanie P., Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A., Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Dortenzio, Victoria, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald F., O’Donnell-Luria, Anne, Talkowski, Michael E., FitzPatrick, David R., and Boone, Philip M.

Published
2024
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12. Efficacy and toxicity of primary re-irradiation for malignant spinal cord compression based on radiobiological modelling: a phase II clinical trial

Author

Wallace, Neil D., Dunne, Mary T., McArdle, Orla, Small, Cormac, Parker, Imelda, Shannon, Aoife M., Clayton-Lea, Angela, Parker, Michael, Collins, Conor D., Armstrong, John G., Gillham, Charles, Coffey, Jerome, Fitzpatrick, David, Salib, Osama, Moriarty, Michael, Stevenson, Michael R., Alvarez-Iglesias, Alberto, McCague, Michael, and Thirion, Pierre G.

Published
2023
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14. Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome

Author

Ramond, Francis, Dalgliesh, Caroline, Grimmel, Mona, Wechsberg, Oded, Vetro, Annalisa, Guerrini, Renzo, FitzPatrick, David, Poole, Rebecca L., Lebrun, Marine, Bayat, Allan, Grasshoff, Ute, Bertrand, Miriam, Witt, Dennis, Turnpenny, Peter D., Faundes, Víctor, Santa María, Lorena, Mendoza Fuentes, Carolina, Mabe, Paulina, Hussain, Shaun A., Mullegama, Sureni V., Torti, Erin, Oehl-Jaschkowitz, Barbara, Salmon, Lina Basel, Orenstein, Naama, Shahar, Noa Ruhrman, Hagari, Ofir, Bazak, Lily, Hoffjan, Sabine, Prada, Carlos E., Haack, Tobias, and Elliott, David J.

Published
2023
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20. Recommendations for clinical interpretation of variants found in non-coding regions of the genome

Author

Ellingford, Jamie M., Ahn, Joo Wook, Bagnall, Richard D., Baralle, Diana, Barton, Stephanie, Campbell, Chris, Downes, Kate, Ellard, Sian, Duff-Farrier, Celia, FitzPatrick, David R., Greally, John M., Ingles, Jodie, Krishnan, Neesha, Lord, Jenny, Martin, Hilary C., Newman, William G., O’Donnell-Luria, Anne, Ramsden, Simon C., Rehm, Heidi L., Richardson, Ebony, Singer-Berk, Moriel, Taylor, Jenny C., Williams, Maggie, Wood, Jordan C., Wright, Caroline F., Harrison, Steven M., and Whiffin, Nicola

Published
2022
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25. The effect of a minimum price per unit of alcohol in Scotland on alcohol‐related ambulance call‐outs: A controlled interrupted time−series analysis.

Author

Manca, Francesco, Lewsey, Jim, Mackay, Daniel, Angus, Colin, Fitzpatrick, David, and Fitzgerald, Niamh

Subjects
HOSPITAL night care, NURSES, ALCOHOLIC beverages, HUMAN services programs, OUTPATIENT medical care nursing, GOVERNMENT policy, RESEARCH funding, TIME series analysis, TREATMENT effectiveness, DESCRIPTIVE statistics, ALCOHOL-induced disorders, EMERGENCY medical services communication systems, AMBULANCES, ELECTRONIC health records, CONFIDENCE intervals, ALGORITHMS, SOCIAL classes, EVALUATION
Abstract

Background and aims: On 1 May 2018, Scotland introduced a minimum unit price (MUP) of £0.50 for alcohol, with one UK unit of alcohol being 10 ml of pure ethanol. This study measured the association between MUP and changes in the volume of alcohol‐related ambulance call‐outs in the overall population and in call‐outs subsets (night‐time call‐outs and subpopulations with higher incidence of alcohol‐related harm). Design: An interrupted time−series (ITS) was used to measure variations in the daily volume of alcohol‐related call‐outs. We performed uncontrolled ITS on both the intervention and control group and a controlled ITS built on the difference between the two series. Data were from electronic patient clinical records from the Scottish Ambulance Service. Setting and cases: Alcohol‐related ambulance call‐outs (intervention group) and total ambulance call‐outs for people aged under 13 years (control group) in Scotland, from December 2017 to March 2020. Measurements Call‐outs were deemed alcohol‐related if ambulance clinicians indicated that alcohol was a 'contributing factor' in the call‐out and/or a validated Scottish Ambulance Service algorithm determined that the call‐out was alcohol‐related. Findings No statistically significant association in the volume of call‐outs was found in both the uncontrolled series [step change = 0.062, 95% confidence interval (CI) = −0.012, 0.0135 P = 0.091; slope change = −0.001, 95% CI = −0.001, 0.1 × 10−3P = 0.139] and controlled series (step change = −0.01, 95% CI = −0.317, 0.298 P = 0.951; slope change = −0.003, 95% CI = −0.008, 0.002 P = 0.257). Similarly, no significant changes were found for the night‐time series or for any population subgroups. Conclusions: There appears to be no statistically significant association between the introduction of minimum unit pricing for alcohol in Scotland and the volume of alcohol‐related ambulance call‐outs. This was observed overall, across subpopulations and at night‐time. [ABSTRACT FROM AUTHOR]

Published
2024
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26. Quantifying the contribution of recessive coding variation to developmental disorders

Author

Deciphering Developmental Disorders Study, Martin, Hilary C., Jones, Wendy D., McIntyre, Rebecca, Sanchez-Andrade, Gabriela, Sanderson, Mark, Stephenson, James D., Jones, Carla P., Handsaker, Juliet, Gallone, Giuseppe, Bruntraeger, Michaela, McRae, Jeremy F., Prigmore, Elena, Short, Patrick, Niemi, Mari, Kaplanis, Joanna, Radford, Elizabeth J., Akawi, Nadia, Balasubramanian, Meena, Dean, John, Horton, Rachel, Hulbert, Alice, Johnson, Diana S., Johnson, Katie, Kumar, Dhavendra, Lynch, Sally Ann, Mehta, Sarju G., Morton, Jenny, Parker, Michael J., Splitt, Miranda, Turnpenny, Peter D., Vasudevan, Pradeep C., Wright, Michael, Bassett, Andrew, Gerety, Sebastian S., Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E., and Barrett, Jeffrey C.

Published
2018

27. Replication Analysis in Exploratory Factor Analysis: What It Is and Why It Makes Your Analysis Better

Author

Osborne, Jason W. and Fitzpatrick, David C.

Abstract

Exploratory Factor Analysis (EFA) is a powerful and commonly-used tool for investigating the underlying variable structure of a psychometric instrument. However, there is much controversy in the social sciences with regard to the techniques used in EFA (Ford, MacCallum, & Tait, 1986; Henson & Roberts, 2006) and the reliability of the outcome. Simulations by Costello and Osborne (2005), for example, demonstrate how poorly some EFA analyses replicate, even with clear underlying factor structures and large samples. Thus, we argue that researchers should routinely examine the stability or volatility of their EFA solutions to gain more insight into the robustness of their solutions and insight into how to improve their instruments while still at the exploratory stage of development. (Contains 4 tables and 3 footnotes.)

Published
2012

28. Hypoglycaemic emergencies attended by the Scottish Ambulance Service : a multiple methods investigation

Author

Fitzpatrick, David, Duncan, Edward A. S., and Niven, Catherine

Subjects
362.18, Ambulance, Prehospital, Hypoglycaemia, Diabetes, See and Treat, Treat and Refer, Non-conveyance, Paramedic, Multiple methods, Ambulance service--Great Britain, Emergency medical technicians, Emergency medical services--Great Britain, Hypoglycemia
Abstract

Background: Changing service demands require United Kingdom ambulance services to redefine their role and response strategies, in order to reduce unnecessary Emergency Department attendances. Treat and Refer guidelines have been developed with this aim in mind. However, these guidelines have been developed in the absence of reliable evidence or guiding mid-range theory. This has resulted in inconsistencies in clinical practice. One condition frequently included in Treat and Refer guidelines is hypoglycaemia. Therefore this thesis aimed to investigate prehospital hypoglycaemic emergencies in order to develop an evidence base for future interventions and guideline development. Research approach: A pragmatic and inductive applied health services research approach was employed. Multiple methods were used in a sequential explanatory design. Three linked studies were undertaken with the results of previous studies informing the development of the next. Study one: A scoping review of prehospital treatment of hypoglycaemic events. Aims: i) To describe the demographics of the patient population requiring ambulance service assistance for hypoglycaemic emergencies; ii) To determine the extent to which post-hypoglycaemic patients with diabetes, who are prescribed oral hypoglycaemic agents (OHA), experience repeat hypoglycaemic events (RHE) after being treated in the prehospital environment. Methods: A scoping literature review was conducted using an overlapping retrieval strategy that included both published and unpublished literature. Findings: Twenty-three papers and other relevant material were included. Hypoglycaemia related ambulance calls account for 1.3% to 5.2% of ambulance calls internationally. Transportation rates varied between studies (25%-73%). Repeat hypoglycaemic emergencies are experienced by 2-7% of patients within 48 hours. There was insufficient detail to determine any relationship between repeat events and OHA. The low quality of included papers means that the results should be cautiously interpreted. The safety of leaving patients on OHA at home post hypoglycaemic emergency is unknown. Consequently patients taking OHAs who experience a hypoglycaemic emergency should be transported to hospital for observation. There was a lack of knowledge about the Scottish demographics of the patient population. Study two: A retrospective cross-sectional observational study of diabetes related emergency calls. Aims: To investigate i) the patient demographics and characteristics of hypoglycaemia related emergency calls; ii) the incidence of repeat hypoglycaemic events; and iii) the factors associated with emergency calls that result in individuals being left at home. Methods: A retrospective observational cross-sectional study conducted using Medical Priority Dispatch System® call data from West of Scotland Ambulance Control Centre over a 12 month period. Data were extracted on age, gender, dispatch code, time of call, deprivation category, and immediate outcome (home or hospital). Multiple regression analysis was used to determine predictors of remaining at home. Findings: 1319 calls for hypoglycaemia were received. Patient demographics were similar to the scoping review findings. Most patients remained at home (N = 916 vs N = 380; p < .001). RHE’s were experience by 3.1% within 48 hours, and 10.6% within two weeks. The most significant independent predictor for patients remaining at home was a prior call to the ambulance service (OR of 2.4 [95%CI 1.5 to 3.7]). Patients’ reasons for remaining at home and the causes of subsequent severe events are unknown. It is likely that non-clinical factors may explain some of this behaviour. Study 3: Investigating patients’ experiences of prehospital hypoglycaemic care. Aim: To investigate the experiences of patients who are attended by ambulance clinicians for a hypoglycaemic emergency. Methods: In-depth interviews with adults with diabetes who had recently experienced a hypoglycaemic emergency treated by ambulance clinicians. Participants were recruited from Greater Glasgow and Clyde and Lanarkshire Health Board areas. Data were analysed using Framework Analysis. Findings: Twenty six patients were interviewed. Three key themes were developed. Firstly, an explanation for help seeking behaviour; patients’ impaired awareness of hypoglycaemia as well as the inability of friends and relatives to cope can contribute to an ambulance call-out. Secondly, the perceptions of ambulance service care; patients felt the service provided was good; however ambulance clinicians’ advice was inconsistent. Thirdly, the influences on uptake of follow-up care; patient preferences for follow-up care were influenced by previous experiences of home, hospital and primary care. Post-hoc analysis identified three psychological theories that may explain these findings and provide a useful basis for intervention development: Common Sense Model (Leventhal et al, 1998); Health Belief Model (Rosenstock, 1966); Ley’s cognitive hypothesis model of communication (Ley and Llewelyn, 1995; 1981). Conclusion: Most people treated for severe hypoglycaemia by ambulance clinicians remain at home and do not follow-up their care. A few experience repeat hypoglycaemic emergencies. Key causal, but modifiable factors, contributing to this include:- impaired awareness of hypoglycaemia; inconsistent delivery of ambulance clinician referral advice; and patients’ perceptions of the costs and benefits of follow-up care. Ambulance services cannot address all these factors in isolation. The studies in this thesis have generated an evidence base and identified plausible candidate theories. This will support the future development of novel interventions to improve severe hypoglycaemic emergency follow-up.

Published
2015

31. Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Author

Williamson, Kathleen A., Hall, H. Nikki, Owen, Liusaidh J., Livesey, Benjamin J., Hanson, Isabel M., Adams, G. G. W., Bodek, Simon, Calvas, Patrick, Castle, Bruce, Clarke, Michael, Deng, Alexander T., Edery, Patrick, Fisher, Richard, Gillessen-Kaesbach, Gabriele, Heon, Elise, Hurst, Jane, Josifova, Dragana, Lorenz, Birgit, McKee, Shane, Meire, Francoise, Moore, Anthony T., Parker, Michael, Reiff, Charlotte M., Self, Jay, Tobias, Edward S., Verheij, Joke B. G. M., Willems, Marjolaine, Williams, Denise, van Heyningen, Veronica, Marsh, Joseph A., and FitzPatrick, David R.

Published
2020
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33. Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina.

Author

Dorgau, Birthe, Collin, Joseph, Rozanska, Agata, Zerti, Darin, Unsworth, Adrienne, Crosier, Moira, Hussain, Rafiqul, Coxhead, Jonathan, Dhanaseelan, Tamil, Patel, Aara, Sowden, Jane C., FitzPatrick, David R., Queen, Rachel, and Lako, Majlinda

Subjects
PROGENITOR cells, PLURIPOTENT stem cells, TRANSIENT analysis, RETINA, CELL differentiation
Abstract

The emergence of retinal progenitor cells and differentiation to various retinal cell types represent fundamental processes during retinal development. Herein, we provide a comprehensive single cell characterisation of transcriptional and chromatin accessibility changes that underline retinal progenitor cell specification and differentiation over the course of human retinal development up to midgestation. Our lineage trajectory data demonstrate the presence of early retinal progenitors, which transit to late, and further to transient neurogenic progenitors, that give rise to all the retinal neurons. Combining single cell RNA-Seq with spatial transcriptomics of early eye samples, we demonstrate the transient presence of early retinal progenitors in the ciliary margin zone with decreasing occurrence from 8 post-conception week of human development. In retinal progenitor cells, we identified a significant enrichment for transcriptional enhanced associate domain transcription factor binding motifs, which when inhibited led to loss of cycling progenitors and retinal identity in pluripotent stem cell derived organoids. Formation of the retina during development involves the coordinated action of retinal progenitor cells and their differentiated cell types, which is key for producing a functioning eye. Here the authors provide a detailed atlas of human retinal development, combining scRNA-seq and spatial transcriptomics, and identify key genetic factors that mediate retinal progenitor cell proliferation and differentiation. [ABSTRACT FROM AUTHOR]

Published
2024
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34. Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.

Author

Hall, Hildegard Nikki, Parry, David, Halachev, Mihail, Williamson, Kathleen A., Donnelly, Kevin, Parada, Jose Campos, Bhatia, Shipra, Joseph, Jeffrey, Holden, Simon, Prescott, Trine E., Bitoun, Pierre, Kirk, Edwin P., Newbury-Ecob, Ruth, Lachlan, Katherine, Bernar, Juan, van Heyningen, Veronica, FitzPatrick, David R., and Meynert, Alison

Abstract

Background Classic aniridia is a highly penetrant autosomal dominant disorder characterised by congenital absence of the iris, foveal hypoplasia, optic disc anomalies and progressive opacification of the cornea. >90% of cases of classic aniridia are caused by heterozygous, loss-of-function variants affecting the PAX6 locus. Methods Short-read whole genome sequencing was performed on 51 (39 affected) individuals from 37 different families who had screened negative for mutations in the PAX6 coding region. Results Likely causative mutations were identified in 22 out of 37 (59%) families. In 19 out of 22 families, the causative genomic changes have an interpretable deleterious impact on the PAX6 locus. Of these 19 families, 1 has a novel heterozygous PAX6 frameshift variant missed on previous screens, 4 have single nucleotide variants (SNVs) (one novel) affecting essential splice sites of PAX6 5' non-coding exons and 2 have deep intronic SNV (one novel) resulting in gain of a donor splice site. In 12 out of 19, the causative variants are large-scale structural variants; 5 have partial or whole gene deletions of PAX6, 3 have deletions encompassing critical PAX6 cis-regulatory elements, 2 have balanced inversions with disruptive breakpoints within the PAX6 locus and 2 have complex rearrangements disrupting PAX6. The remaining 3 of 22 families have deletions encompassing FOXC1 (a known cause of atypical aniridia). Seven of the causative variants occurred de novo and one cosegregated with familial aniridia. We were unable to establish inheritance status in the remaining probands. No plausibly causative SNVs were identified in PAX6 cis-regulatory elements. Conclusion Whole genome sequencing proves to be an effective diagnostic test in most individuals with previously unexplained aniridia. [ABSTRACT FROM AUTHOR]

Published
2024
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36. LETTERS

Author

GRAHAM, TOMMY, McCORMICK, TED, DONOGHUE, JOHN, KENNY, COLUM, and FITZPATRICK, DAVID

Published
2017

37. Out-of-hospital cardiac arrest survival in international airports

Author

Masterson, Siobhán, McNally, Bryan, Cullinan, John, Vellano, Kimberly, Escutnaire, Joséphine, Fitzpatrick, David, Perkins, Gavin D., Koster, Rudolph W., Nakajima, Yuko, Pemberton, Katherine, Quinn, Martin, Smith, Karen, Jónsson, Bergþór Steinn, Strömsöe, Anneli, Tandan, Meera, and Vellinga, Akke

Published
2018
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40. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Author

Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J M, Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E, Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, da Cunha, Bruna Santos, Delaney, Louisa A, Destrée, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M C, Héron, Delphine, Hoischen, Alexander, Honey, Engela Magdalena, Hoefsloot, Lies H, Ibrahim, Jennifer, Jacob, Claire M, Kant, Sarina G, Kim, Chong Ae, Kirk, Edwin P, Knoers, Nine V A M, Lacombe, Didier, Lee, Chung, Lo, Ivan F M, Lucas, Luiza S, Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S, Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T, Pope, Kate, Price, Susan, Renieri, Alessandra, Sá, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L, Simon, Marleen E H, Slavotinek, Anne, Temple, I Karen, van der Burgt, Ineke, de Vries, Bert B A, Weisfeld-Adams, James D, Whiteford, Margo L, Wierczorek, Dagmar, Wit, Jan M, Yee, Connie Fung On, Beaulieu, Chandree L, cpgdsconsortium@cheo.on.ca, White, Sue M, Bulman, Dennis E, Bongers, Ernie, Brunner, Han, Feingold, Murray, and Boycott, Kym M

Abstract

Abstract Background Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three of the subjects (63%) had at least one major anomaly requiring medical intervention. We did not observe any specific phenotype-genotype correlations. Conclusions This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols.

Published
2013

43. Stability, affinity, and chromatic variants of the glutamate sensor iGluSnFR

Author

Marvin, Jonathan S., Scholl, Benjamin, Wilson, Daniel E., Podgorski, Kaspar, Kazemipour, Abbas, Müller, Johannes Alexander, Schoch, Susanne, Quiroz, Francisco José Urra, Rebola, Nelson, Bao, Huan, Little, Justin P., Tkachuk, Ariana N., Cai, Edward, Hantman, Adam W., Wang, Samuel S.-H., DePiero, Victor J., Borghuis, Bart G., Chapman, Edwin R., Dietrich, Dirk, DiGregorio, David A., Fitzpatrick, David, and Looger, Loren L.

Published
2018
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