431 results on '"Fitzgerald, Mark P"'
Search Results
52. Leveraging electronic medical record-embedded standardised electroencephalogram reporting to develop neonatal seizure prediction models: a retrospective cohort study
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McKee, Jillian L, primary, Kaufman, Michael C, additional, Gonzalez, Alexander K, additional, Fitzgerald, Mark P, additional, Massey, Shavonne L, additional, Fung, France, additional, Kessler, Sudha K, additional, Witzman, Stephanie, additional, Abend, Nicholas S, additional, and Helbig, Ingo, additional
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- 2023
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53. Pharmacists in Trauma: a randomised controlled trial of emergency medicine pharmacists in trauma response teams
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Roman, Cristina, Dooley, Michael, Fitzgerald, Mark, Smit, De Villiers, Cameron, Peter, and Mitra, Biswadev
- Abstract
BackgroundAnalgesia is an important component for patient well-being, but commonly delayed during trauma resuscitation. The Pharmacists in Trauma trial assessed the effects of integrating pharmacists into trauma response teams to improve analgesia delivery and medication management.MethodsThis unblinded randomised trial compared emergency medicine (EM) pharmacist involvement in trauma callouts versus standard care at an Australian level 1 trauma centre. Randomisation was performed via an online single sequence randomisation service. Eligible patients included those managed with a trauma callout during working hours of an EM pharmacist. Pharmacists were able to prescribe medications using a Partnered Pharmacist Medication Charting model. The primary outcome was the proportion of patients who had first dose analgesia within 30 min compared using the χ2test.ResultsFrom 15 July 2021 until 31 January 2022, there were 119 patients randomised with 37 patients excluded as no analgesia was required. There were 82 patients included for analysis, 39 in the control arm and 43 in the intervention arm. The primary outcome was achieved in 25 (64.1%) patients in the control arm and 36 (83.7%) patients in the pharmacist arm (relative risk 1.31; 95% CI 1.0 to 1.71; p=0.042). Time to analgesia in the control arm was 28 (22–35) mins and 20 (15–26 mins) with pharmacist involvement; p=0.025. In the pharmacist arm, the initial dose of analgesia was prescribed by the pharmacist for 38 (88.4%) patients. There were 27 other medications prescribed by the pharmacist for the management of these patients. There were no differences in emergency and trauma centre or hospital length of stay.ConclusionAddition of the EM pharmacist in trauma response teams improved time to analgesia. Involvement of an EM pharmacist in trauma reception and resuscitation may assist by optimising medication management, with members of the team more available to focus on other life-saving interventions.Trial registration numberACTRN12621000338864.
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- 2024
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54. Interrater and Intrarater Agreement in Neonatal Electroencephalogram Background Scoring
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Massey, Shavonne L., Shou, Haochang, Clancy, Robert, DiGiovine, Marissa, Fitzgerald, Mark P., Fung, France W., Farrar, John, and Abend, Nicholas S.
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- 2019
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55. Timely completion of multiple life-saving interventions for traumatic haemorrhagic shock: a retrospective cohort study
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Mitra, Biswadev, Bade-Boon, Jordan, Fitzgerald, Mark C., Beck, Ben, and Cameron, Peter A.
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- 2019
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56. Hospitalisations and in‐hospital deaths following moderate to severe traumatic brain injury in Australia, 2015–20: a registry data analysis for the Australian Traumatic Brain Injury National Data (ATBIND) project.
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O'Reilly, Gerard M, Curtis, Kate, Mitra, Biswadev, Kim, Yesul, Afroz, Afsana, Hunter, Kate, Ryder, Courtney, Hendrie, Delia V, Rushworth, Nick, Tee, Jin, D'Angelo, Shane, Solly, Emma, Bhattacharya, Oashe, and Fitzgerald, Mark C
- Abstract
Objective: To describe the frequency of hospitalisation and in‐hospital death following moderate to severe traumatic brain injury (TBI) in Australia, both overall and by patient demographic characteristics and the nature and severity of the injury. Design, setting: Cross‐sectional study; analysis of Australia New Zealand Trauma Registry data. Participants: People with moderate to severe TBI (Abbreviated Injury Score [head] greater than 2) who were admitted to or died in one of the twenty‐three major Australian trauma services that contributed data to the ATR throughout the study period, 1 July 2015 – 30 June 2020. Major outcome measures: Primary outcome: number of hospitalisations with moderate to severe TBI; secondary outcome: number of deaths in hospital following moderate to severe TBI. Results: During 2015–20, 16 350 people were hospitalised with moderate to severe TBI (mean, 3270 per year), of whom 2437 died in hospital (14.9%; mean, 487 per year). The mean age at admission was 50.5 years (standard deviation [SD], 26.1 years), and 11 644 patients were male (71.2%); the mean age of people who died in hospital was 60.4 years (SD, 25.2 years), and 1686 deaths were of male patients (69.2%). The overall number of hospitalisations did not change during 2015–20 (per year: incidence rate ratio [IRR], 1.00; 95% confidence interval [CI], 0.99–1.02) and death (IRR, 1.00; 95% CI, 0.97–1.03). Conclusion: Injury prevention and trauma care interventions for people with moderate to severe TBI in Australia reduced neither the incidence of the condition nor the associated in‐hospital mortality during 2015–20. More effective care strategies are required to reduce the burden of TBI, particularly among younger men. [ABSTRACT FROM AUTHOR]
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- 2023
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57. Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
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Burglen, Lydie, primary, Van Hoeymissen, Evelien, primary, Qebibo, Leila, additional, Barth, Magalie, additional, Belnap, Newell, additional, Boschann, Felix, additional, Depienne, Christel, additional, De Clercq, Katrien, additional, Douglas, Andrew GL, additional, Fitzgerald, Mark P, additional, Foulds, Nicola, additional, Garel, Catherine, additional, Helbig, Ingo, additional, Held, Katharina, additional, Horn, Denise, additional, Janssen, Annelies, additional, Kaindl, Angela M, additional, Narayanan, Vinodh, additional, Prager, Christina, additional, Rupin-Mas, Mailys, additional, Afenjar, Alexandra, additional, Zhao, Siyuan, additional, Ramaekers, Vincent Th, additional, Ruggiero, Sarah M, additional, Thomas, Simon, additional, Valence, Stéphanie, additional, Van Maldergem, Lionel, additional, Rohacs, Tibor, additional, Rodriguez, Diana, additional, Dyment, David, additional, Voets, Thomas, additional, and Vriens, Joris, additional
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- 2023
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58. Author response: Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
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Burglen, Lydie, primary, Van Hoeymissen, Evelien, primary, Qebibo, Leila, additional, Barth, Magalie, additional, Belnap, Newell, additional, Boschann, Felix, additional, Depienne, Christel, additional, De Clercq, Katrien, additional, Douglas, Andrew GL, additional, Fitzgerald, Mark P, additional, Foulds, Nicola, additional, Garel, Catherine, additional, Helbig, Ingo, additional, Held, Katharina, additional, Horn, Denise, additional, Janssen, Annelies, additional, Kaindl, Angela M, additional, Narayanan, Vinodh, additional, Prager, Christina, additional, Rupin-Mas, Mailys, additional, Afenjar, Alexandra, additional, Zhao, Siyuan, additional, Ramaekers, Vincent Th, additional, Ruggiero, Sarah M, additional, Thomas, Simon, additional, Valence, Stéphanie, additional, Van Maldergem, Lionel, additional, Rohacs, Tibor, additional, Rodriguez, Diana, additional, Dyment, David, additional, Voets, Thomas, additional, and Vriens, Joris, additional
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- 2022
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59. An Updated, Evidence-Based Clinician’s Guide to the Evaluation and Treatment of West Syndrome
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Fitzgerald, Mark P. and Ryan, Nicole
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- 2017
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60. WE-180. Neonatal seizure prediction algorithms based on EMR-embedded standardized EEG reporting
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McKee, Jillian L., primary, Kaufman, Michael C., additional, Gonzalez, Alexander K., additional, Massey, Shavonne L., additional, Fung, France W., additional, Fitzgerald, Mark P., additional, Kessler, Sudha K., additional, Witzman, Stephanie, additional, Abend, Nicholas S., additional, and Helbig, Ingo, additional
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- 2022
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61. The phenotype of SCN8A developmental and epileptic encephalopathy
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Gardella, Elena, Marini, Carla, Trivisano, Marina, Fitzgerald, Mark P., Alber, Michael, Howell, Katherine B., Darra, Francesca, Siliquini, Sabrina, Bölsterli, Bigna K., Masnada, Silva, Pichiecchio, Anna, Johannesen, Katrine M., Jepsen, Birgit, Fontana, Elena, Anibaldi, Gaia, Russo, Silvia, Cogliati, Francesca, Montomoli, Martino, Specchio, Nicola, Rubboli, Guido, Veggiotti, Pierangelo, Beniczky, Sandor, Wolff, Markus, Helbig, Ingo, Vigevano, Federico, Scheffer, Ingrid E., Guerrini, Renzo, and Møller, Rikke S.
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- 2018
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62. Seizure prediction in 1117 neonates leveraging EMR-embedded standardized EEG reporting
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McKee, Jillian L, primary, Kaufman, Michael, additional, Gonzalez, Alexander, additional, Fitzgerald, Mark P, additional, Massey, Shavonne L, additional, Fung, France, additional, Kessler, Sudha K, additional, Witzman, Stephanie, additional, Abend, Nicholas, additional, and Helbig, Ingo, additional
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- 2022
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63. An Exploratory Study of Drug-Exposed Infants: Case Substantiation and Subsequent Child Maltreatment
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Sun, An-Pyng, Freese, Margaret P., and Fitzgerald, Mark
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This study explores factors related to drug-exposed infants' case substantiation and subsequent child maltreatment. Child protective services computerized administrative data (from January 1998 to October 2001) were obtained from an urban Nevada county. The data included 457 drug-exposed infant cases. Chi-square, t-test, one-way ANOVA, and logistic regression were used to analyze the data. Results indicate that: (1) drug-exposed infant case substantiation was related to type of drug exposure and the unit to which the case was assigned, but not to the mother's ethnicity; and (2) subsequent maltreatment among drug-exposed infants was related to the mother's age and prior parental alcohol abuse, but not to the type of drug exposure, nor to the initial drug-exposed infant status of case substantiation. Implications for child welfare practice and research are discussed. (Contains 2 tables and 1 footnote.)
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- 2007
64. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
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Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], BMBF, Treat-ION, 01GM1907 [sponsor], Johannesen, Katrine M., Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E., Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R., Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Billie Au, P. Y., Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S., van der Zwaag, Bert, Harder, Aster V. E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Minh Le, Ngoc, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W., Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destrée, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen-Hann, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O., Lesca, Gaetan, Hedrich, Ulrike B. S., Benda, Jan, Gardella, Elena, Lerche, Holger, Møller, Rikke S., Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], BMBF, Treat-ION, 01GM1907 [sponsor], Johannesen, Katrine M., Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E., Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R., Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Billie Au, P. Y., Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S., van der Zwaag, Bert, Harder, Aster V. E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Minh Le, Ngoc, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W., Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destrée, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen-Hann, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O., Lesca, Gaetan, Hedrich, Ulrike B. S., Benda, Jan, Gardella, Elena, Lerche, Holger, and Møller, Rikke S.
- Abstract
We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel NaV1.6, with the aim of describing clinical phenotypes related to functional effects. Six different clinical subgroups could be identified: 1) Benign familial infantile epilepsy (BFIE) (n = 15, normal cognition, treatable seizures), 2) intermediate epilepsy (n = 33, mild ID, partially pharmaco-responsive), 3) developmental and epileptic encephalopathy (DEE, n = 177, severe ID, majority pharmaco-resistant), 4) generalized epilepsy (n = 20, mild to moderate ID, frequently with absence seizures), 5) unclassifiable epilepsy (n = 127), and 6) neurodevelopmental disorder without epilepsy (n = 20, mild to moderate ID). Groups 1–3 presented with focal or multifocal seizures (median age of onset: four months) and focal epileptiform discharges, whereas the onset of seizures in group 4 was later (median: 42 months) with generalized epileptiform discharges. We performed functional studies expressing missense variants in ND7/23 neuroblastoma cells and primary neuronal cultures using recombinant tetrodotoxin-insensitive human NaV1.6 channels and whole-cell patch-clamping. Two variants causing DEE showed a strong gain-of-function (GOF, hyperpolarising shift of steady-state activation, strongly increased neuronal firing rate), and one variant causing BFIE or intermediate epilepsy showed a mild GOF (defective fast inactivation, less increased firing). In contrast, all three variants causing generalized epilepsy induced a loss-of-function (LOF, reduced current amplitudes, depolarising shift of steady-state activation, reduced neuronal firing). Including previous studies, functional effects were known for 170 individuals. All 136 individuals carrying a functionally tested GOF variant had either focal (97, groups 1–3), or unclassifiable epilepsy (39), whereas 34 with a LOF variant had either generalized (14), no
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- 2022
65. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
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Johannesen, Katrine M., Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E., Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R., Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Au, P. Y.Billie, Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S., Braakman, Hilde M.H., van der Zwaag, Bert, Harder, Aster V.E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Le, Ngoc Minh, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W., Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie Cecile, Destrée, Anne, Schoonjans, An Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen Hann, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O., Lesca, Gaetan, Hedrich, Ulrike B.S., Benda, Jan, Gardella, Elena, Lerche, Holger, Møller, Rikke S., Johannesen, Katrine M., Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E., Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R., Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Au, P. Y.Billie, Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S., Braakman, Hilde M.H., van der Zwaag, Bert, Harder, Aster V.E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Le, Ngoc Minh, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W., Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie Cecile, Destrée, Anne, Schoonjans, An Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen Hann, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O., Lesca, Gaetan, Hedrich, Ulrike B.S., Benda, Jan, Gardella, Elena, Lerche, Holger, and Møller, Rikke S.
- Abstract
We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel Nav1.6, with the aim of describing clinical phenotypes related to functional effects. Six different clinical subgroups were identified: Group 1, benign familial infantile epilepsy (n = 15, normal cognition, treatable seizures); Group 2, intermediate epilepsy (n = 33, mild intellectual disability, partially pharmaco-responsive); Group 3, developmental and epileptic encephalopathy (n = 177, severe intellectual disability, majority pharmaco-resistant); Group 4, generalized epilepsy (n = 20, mild to moderate intellectual disability, frequently with absence seizures); Group 5, unclassifiable epilepsy (n = 127); and Group 6, neurodevelopmental disorder without epilepsy (n = 20, mild to moderate intellectual disability). Those in Groups 1-3 presented with focal or multifocal seizures (median age of onset: 4 months) and focal epileptiform discharges, whereas the onset of seizures in patients with generalized epilepsy was later (median: 42 months) with generalized epileptiform discharges. We performed functional studies expressing missense variants in ND7/23 neuroblastoma cells and primary neuronal cultures using recombinant tetrodotoxin-insensitive human Nav1.6 channels and whole-cell patch-clamping. Two variants causing developmental and epileptic encephalopathy showed a strong gain-of-function (hyperpolarizing shift of steady-state activation, strongly increased neuronal firing rate) and one variant causing benign familial infantile epilepsy or intermediate epilepsy showed a mild gain-of-function (defective fast inactivation, less increased firing). In contrast, all three variants causing generalized epilepsy induced a loss-of-function (reduced current amplitudes, depolarizing shift of steady-state activation, reduced neuronal firing). Functional effects were known for 170 individuals. All 136 i
- Published
- 2022
66. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
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Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Brain, Johannesen, Katrine M, Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D, Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A, Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R, Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Billie Au, P Y, Rho, Jong M, Ho, Alice W, Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E, Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S, van der Zwaag, Bert, Harder, Aster V E, Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Minh Le, Ngoc, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W, Howe, Jennifer, Fazeli, Walid, Howell, Katherine B, Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M, Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E, Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M, Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destrée, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen-Hann, Olson, Heather E, Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L, Helbig, Ingo, Fitzgerald, Mark P, Goldberg, Ethan M, Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O, Lesca, Gaetan, Hedrich, Ulrike B S, Benda, Jan, Gardella, Elena, Lerche, Holger, Møller, Rikke S, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Brain, Johannesen, Katrine M, Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D, Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A, Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R, Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Billie Au, P Y, Rho, Jong M, Ho, Alice W, Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E, Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S, van der Zwaag, Bert, Harder, Aster V E, Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Minh Le, Ngoc, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W, Howe, Jennifer, Fazeli, Walid, Howell, Katherine B, Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M, Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E, Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M, Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destrée, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen-Hann, Olson, Heather E, Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L, Helbig, Ingo, Fitzgerald, Mark P, Goldberg, Ethan M, Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O, Lesca, Gaetan, Hedrich, Ulrike B S, Benda, Jan, Gardella, Elena, Lerche, Holger, and Møller, Rikke S
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- 2022
67. Oral health literacy education and practice in US dental hygiene programs: A national survey.
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Lawler, Heather M., Farrell, Chris, Fitzgerald, Mark, Jones, Darlene, and Cullen, Jennifer
- Abstract
Purpose/Objectives: Studies have shown a significant relationship between low oral health literacy (OHL) and poor oral health outcomes. National calls for action include better training of dental providers to meet the needs of the low OHL public. The purpose of this research was to determine the extent OHL education is being included in US dental hygiene (DH) education programs. Methods: In fall of 2020, a 23-itemdigital survey was sent to 321 Commission on Dental Accreditation-accredited DH schools in the US. Results: Survey generated 90 eligible responses (28%). Respondents reported that OHL education is being included in DH curricula to some degree. Communication strategies (82.4%) were the most likely OHL concept to be taught. Subject areas included community health (89%), cultural competency (78%), and special populations (78%). Respondents ranked lack of assessment instruments, lack of concrete activities, lack of clear understanding of OHL, and difficulty in implementing OHL concepts as the top barriers to incorporating OHL education in the DH curriculum. Conclusion(s): OHL is an established determinant of oral health. As prevention and patient education experts, dental hygienists play an important role in improving patient OHL. More fully integrating OHL into DH curricula would provide future DHs with the training needed to improve oral health outcomes and would better align DH education programs with national OHL initiatives. [ABSTRACT FROM AUTHOR]
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- 2023
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68. Child neurology telemedicine: Analyzing 14 820 patient encounters during the first year of the COVID‐19 pandemic.
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Kaufman, Michael C., Xian, Julie, Galer, Peter D., Parthasarathy, Shridhar, Gonzalez, Alexander K., McKee, Jillian L., Prelack, Marisa S., Fitzgerald, Mark P., Helbig, Ingo, Ruggiero, Sarah Mckeown, Craig, Sansanee, Rametta, Salvatore C., Molisani, Sara E., Sharif, Uzma, Melamed, Susan E., Digiovine, Marissa, Fried, Lawrence, Malcolm, Marissa P., Kessler, Sudha Kilaru, and Chadehumbe, Madeline
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COVID-19 pandemic ,PATIENT portals ,TELEMEDICINE ,NEUROMUSCULAR diseases ,NOSOLOGY - Abstract
Aim: To determine the long‐term impact of telemedicine in child neurology care during the COVID‐19 pandemic and with the reopening of outpatient clinics. Method: We performed an observational cohort study of 34 837 in‐person visits and 14 820 telemedicine outpatient visits across 26 399 individuals. We assessed differences in care across visit types, time‐period observed, time between follow‐ups, patient portal activation rates, and demographic factors. Results: We observed a higher proportion of telemedicine for epilepsy (International Classification of Diseases, 10th Revision G40: odds ratio [OR] 1.4, 95% confidence interval [CI] 1.3–1.5) and a lower proportion for movement disorders (G25: OR 0.7, 95% CI 0.6–0.8; R25: OR 0.7, 95% CI 0.6–0.9) relative to in‐person visits. Infants were more likely to be seen in‐person after reopening clinics than by telemedicine (OR 1.6, 95% CI 1.5–1.8) as were individuals with neuromuscular disorders (OR 1.6, 95% CI 1.5–1.7). Self‐reported racial and ethnic minority populations and those with highest social vulnerability had lower telemedicine participation rates (OR 0.8, 95% CI 0.8–0.8; OR 0.7, 95% CI 0.7–0.8). Interpretation: Telemedicine continued to be utilized even once in‐person clinics were available. Pediatric epilepsy care can often be performed using telemedicine while young patients with neuromuscular disorders often require in‐person assessment. Prominent barriers for socially vulnerable families and racial and ethnic minorities persist. [ABSTRACT FROM AUTHOR]
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- 2023
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69. Acute psychosis presenting in a patient with systemic lupus erythematosus: Answers
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Sharma, Sheena, Lerman, Melissa A., Fitzgerald, Mark P., and Ruebner, Rebecca L.
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- 2016
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70. Comparison of fibre-optic-guided endotracheal intubation through a supraglottic airway device versus hyperangulated video laryngoscopy by emergency physicians: A randomised controlled study in cadavers
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Groombridge, Christopher J, Maini, Amit, Mathew, Joseph, Fritz, Peter, Kim, Yesul, Fitzgerald, Mark, Smit, De Villiers, and O’Reilly, Gerard
- Abstract
Background: After failed endotracheal intubation, using direct laryngoscopy, rescued using a supraglottic airway device, the choice of subsequent method to secure a definitive airway is not clearly determined.Objective: The aim of this study was to compare the time to intubation using a fibre-optic airway scope, to guide an endotracheal tube through the supraglottic airway device, with a more conventional approach using a hyperangulated video laryngoscope.Methods: A single-centre randomised controlled trial was undertaken. The population studied were emergency physicians working in an adult major trauma centre. The intervention was intubation through a supraglottic airway device guided by a fibre-optic airway scope. The comparison was intubation using a hyperangulated video laryngoscope. The primary outcome was time to intubation. The trial was registered with ANZCTR.org.au (ACTRN12621000018819).Results: Four emergency physicians completed intubations using both of the two airway devices on four cadavers for a total of 32 experiments. The mean time to intubation was 14.0 s (95% confidence interval = 11.1–16.8) in the hyperangulated video laryngoscope group compared with 29.2 s (95% confidence interval = 20.7–37.7) in the fibre-optic airway scope group; a difference of 15.2 s (95% confidence interval = 8.7–21.7, p< 0.001). All intubations were completed within 2 min, and there were no equipment failures or evidence of airway trauma.Conclusion: Successful intubation of the trachea without airway trauma by emergency physicians in cadavers is achievable by either fibre-optic airway scope via a supraglottic airway device or hyperangulated video laryngoscope. Hyperangulated video laryngoscope was statisticallybut arguably not clinicallysignificantly faster than fibre-optic airway scope via supraglottic airway device.
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- 2023
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71. One year of child neurology telemedicine: a data-driven analysis of 14,820 encounters
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Kaufman, Michael C, primary, Xian, Julie, additional, Galer, Peter D, additional, Parthasarathy, Shridhar, additional, Gonzalez, Alexander K, additional, Helbig, Katherine, additional, McKeown, Sarah, additional, Prelack, Marisa S, additional, Fitzgerald, Mark P, additional, Craig, Sansanee, additional, Rametta, Salvatore C, additional, Fridinger, Sara E, additional, Sharif, Uzma, additional, Melamed, Susan E, additional, DiGiovine, Marissa, additional, Fried, Lawrence, additional, Malcolm, Marissa P, additional, Kessler, Sudha Kilaru, additional, Chadehumbe, Madeline, additional, Szperka, Christina, additional, Chuo, John, additional, Caffe, Laurel, additional, Stephenson, Donna J, additional, Banwell, Brenda L, additional, Goldberg, Ethan, additional, Abend, Nicholas S, additional, and Helbig, Ingo, additional
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- 2021
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72. Electrospray mass spectrometry of human hair wax esters
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Fitzgerald Mark and Robert C. Murphy
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electrospray ionization ,tandem mass spectrometry ,gas chromatography-mass spectrometry ,human hair lipids ,Biochemistry ,QD415-436 - Abstract
Wax esters extracted from human hair have been examined by capillary GC-MS and by nano electrospray ionization (ESI) mass spectrometry using a tandem quadrupole mass spectrometer. Initially, the wax esters were examined by capillary GC-MS using conventional means, thus revealing an incomplete chromatographic resolution of the complex array of >200 wax esters ranging from 28 to 40 carbons in length, including saturated/straight-chained, unsaturated/straight-chained, saturated/branched, and unsaturated/branched molecular species. ESI of wax esters produced ammonium adduct ions [M+NH4]+, and collisional activation of these ions formed abundant [RCO2H2]+ product ions. Wax esters containing a double bond in the fatty acyl or fatty alcohol portion of the molecule revealed identical behavior, suggesting little influence of the double bond on the ionization process or subsequent decomposition. The wax ester mixture was analyzed by ESI and tandem mass spectrometry using multiple reaction monitoring and neutral loss scanning. The neutral loss experiment [loss of NH3 and CH2=CH-(CH2)nCH3] was particularly effective at rapidly surveying the complex biological mixture, identifying >160 different wax esters that range from 24 to 42 total carbons.
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- 2007
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73. 2003 Canadian Asthma Consensus Guidelines Executive Summary
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Becker Allan, Lemière Catherine, Bérubé Denis, Boulet Louis-Philippe, Ducharme Francine, FitzGerald Mark, and Kovesi Thomas
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Immunologic diseases. Allergy ,RC581-607 - Abstract
Abstract Background Guidelines for the diagnosis and management of asthma have been published over the last 15 years; however, there has been little focus on issues relating to asthma in childhood. Since the last revision of the 1999 Canadian Asthma Consensus Report, important new studies, particularly in children, have highlighted the need to incorporate new information into the asthma guidelines. The objectives of this article are to review the literature on asthma published between January 2000 and June 2003 and to evaluate the influence of new evidence on the recommendations made in the 1999 Canadian Asthma Consensus Report and its 2001 update, with a major focus on pediatric issues. Methods The diagnosis of asthma in young children and prevention strategies, pharmacotherapy, inhalation devices, immunotherapy, and asthma education were selected for review by small expert resource groups. The reviews were discussed in June 2003 at a meeting under the auspices of the Canadian Network For Asthma Care and the Canadian Thoracic Society. Data published through December 2004 were subsequently reviewed by the individual expert resource groups. Results This report evaluates early-life prevention strategies and focuses on treatment of asthma in children, emphasizing the importance of early diagnosis and preventive therapy, the benefits of additional therapy, and the essential role of asthma education. Conclusion We generally support previous recommendations and focus on new issues, particularly those relevant to children and their families. This document is a guide for asthma management based on the best available published data and the opinion of health care professionals, including asthma experts and educators.
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- 2006
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74. Favipiravir for COVID-19 in adults in the community in PRINCIPLE, an open-label, randomised, controlled, adaptive platform trial of short- and longer-term outcomes.
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Hobbs, FD Richard, Gbinigie-Thompson, Oghenekome A., Shanyinde, Milensu, Yu, Ly-Mee, Harris, Victoria, Dorward, Jienchi, Hayward, Gail, Saville, Benjamin R., Berry, Nicholas S., Evans, Philip H., Thomas, Nicholas PB, Patel, Mahendra G., Richards, Duncan, Hecke, Oliver Van, Detry, Michelle A., Saunders, Christina T., Fitzgerald, Mark, Robinson, Jared, Latimer-Bell, Charlotte, and Allen, Julie
- Abstract
Evidence for the effect of favipiravir treatment of acute COVID-19 on recovery, hospital admissions and longer-term outcomes in community settings is limited. In this multicentre. open-label, multi-arm, adaptive platform randomised controlled trial participants aged ≥18 years in the community with a positive test for SARS-CoV-2 and symptoms lasting ≤14 days were randomised to: usual care; usual care plus favipiravir tablets (loading dose of 3600 mg in divided doses on day one, then 800 mg twice a day for four days); or, usual care plus other interventions. Co-primary endpoints were time to first self-reported recovery and hospitalisation/death related to COVID-19, within 28 days, analysed using Bayesian models. Recovery at six months was the primary longer-term outcome. Trial registration: ISRCTN86534580. The primary analysis model included 8811 SARS-CoV-2 positive mostly COVID vaccinated participants, randomised to favipiravir (n = 1829), usual care (n = 3256), and other treatments (n = 3726). Time to self-reported recovery was shorter in the favipiravir group than usual care (estimated hazard ratio 1·23 [95% credible interval 1·14 to 1·33]), a reduction of 2·98 days [1·99 to 3·94] from 16 days in median time to self-reported recovery for favipiravir versus usual care alone. COVID-19 related hospitalisations/deaths were similar (estimated odds ratio 0·99 [0·61 to 1·61]; estimated difference 0% [−0·9% to 0·6%]). 14 serious adverse events occurred in the favipiravir group and 4 in usual care. By six months, the proportion feeling fully recovered was 74·9% for favipiravir versus 71·3% for usual care (RR = 1·05, [1·02 to 1·08]). In this open-label trial in a largely vaccinated population with COVID-19 in the community, favipiravir did not reduce hospital admissions, but shortened time to recovery and had a marginal positive impact on long term outcomes. [ABSTRACT FROM AUTHOR]
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- 2024
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75. Genetic testing for unexplained epilepsy: A review of diagnostic approach, benefits, and referral algorithm.
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Karlin, Alexis, Ruggiero, Sarah, and Fitzgerald, Mark
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In the last several decades, advances in genetic testing have transformed the diagnostic and therapeutic approach to pediatric epilepsy. However, the interpretation of these genetic tests often requires expert analysis and counseling. For this reason, as our molecular understanding of the linkages between abnormal cerebral physiology and genetics has grown, so too has the field of clinical epilepsy genetics. Here we explore recent advances in genetic testing, describe the benefits of genetic testing in epilepsy, and provide a practice guideline for testing and referrals to specialized epilepsy genetics centers, highlighting the Epilepsy NeuroGenetics Initiative (ENGIN) Clinic and the Center for Epilepsy and Neurodevelopmental Disorders (ENDD) at the Children's Hospital of Philadelphia as an illustration of such a specialized center. [ABSTRACT FROM AUTHOR]
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- 2024
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76. Periodic and rhythmic patterns in critically ill children: Incidence, interrater agreement, and seizures
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Fung, France W., primary, Parikh, Darshana S., additional, Massey, Shavonne L., additional, Fitzgerald, Mark P., additional, Vala, Lisa, additional, Donnelly, Maureen, additional, Jacobwitz, Marin, additional, Kessler, Sudha K., additional, Topjian, Alexis A., additional, and Abend, Nicholas S., additional
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- 2021
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77. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
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Johannesen, Katrine M, primary, Liu, Yuanyuan, additional, Koko, Mahmoud, additional, Gjerulfsen, Cathrine E, additional, Sonnenberg, Lukas, additional, Schubert, Julian, additional, Fenger, Christina D, additional, Eltokhi, Ahmed, additional, Rannap, Maert, additional, Koch, Nils A, additional, Lauxmann, Stephan, additional, Krüger, Johanna, additional, Kegele, Josua, additional, Canafoglia, Laura, additional, Franceschetti, Silvana, additional, Mayer, Thomas, additional, Rebstock, Johannes, additional, Zacher, Pia, additional, Ruf, Susanne, additional, Alber, Michael, additional, Sterbova, Katalin, additional, Lassuthová, Petra, additional, Vlckova, Marketa, additional, Lemke, Johannes R, additional, Platzer, Konrad, additional, Krey, Ilona, additional, Heine, Constanze, additional, Wieczorek, Dagmar, additional, Kroell-Seger, Judith, additional, Lund, Caroline, additional, Klein, Karl Martin, additional, Au, P Y Billie, additional, Rho, Jong M, additional, Ho, Alice W, additional, Masnada, Silvia, additional, Veggiotti, Pierangelo, additional, Giordano, Lucio, additional, Accorsi, Patrizia, additional, Hoei-Hansen, Christina E, additional, Striano, Pasquale, additional, Zara, Federico, additional, Verhelst, Helene, additional, Verhoeven, Judith S, additional, Braakman, Hilde M H, additional, van der Zwaag, Bert, additional, Harder, Aster V E, additional, Brilstra, Eva, additional, Pendziwiat, Manuela, additional, Lebon, Sebastian, additional, Vaccarezza, Maria, additional, Le, Ngoc Minh, additional, Christensen, Jakob, additional, Grønborg, Sabine, additional, Scherer, Stephen W, additional, Howe, Jennifer, additional, Fazeli, Walid, additional, Howell, Katherine B, additional, Leventer, Richard, additional, Stutterd, Chloe, additional, Walsh, Sonja, additional, Gerard, Marion, additional, Gerard, Bénédicte, additional, Matricardi, Sara, additional, Bonardi, Claudia M, additional, Sartori, Stefano, additional, Berger, Andrea, additional, Hoffman-Zacharska, Dorota, additional, Mastrangelo, Massimo, additional, Darra, Francesca, additional, Vøllo, Arve, additional, Motazacker, M Mahdi, additional, Lakeman, Phillis, additional, Nizon, Mathilde, additional, Betzler, Cornelia, additional, Altuzarra, Cecilia, additional, Caume, Roseline, additional, Roubertie, Agathe, additional, Gélisse, Philippe, additional, Marini, Carla, additional, Guerrini, Renzo, additional, Bilan, Frederic, additional, Tibussek, Daniel, additional, Koch-Hogrebe, Margarete, additional, Perry, M Scott, additional, Ichikawa, Shoji, additional, Dadali, Elena, additional, Sharkov, Artem, additional, Mishina, Irina, additional, Abramov, Mikhail, additional, Kanivets, Ilya, additional, Korostelev, Sergey, additional, Kutsev, Sergey, additional, Wain, Karen E, additional, Eisenhauer, Nancy, additional, Wagner, Monisa, additional, Savatt, Juliann M, additional, Müller-Schlüter, Karen, additional, Bassan, Haim, additional, Borovikov, Artem, additional, Nassogne, Marie Cecile, additional, Destrée, Anne, additional, Schoonjans, An Sofie, additional, Meuwissen, Marije, additional, Buzatu, Marga, additional, Jansen, Anna, additional, Scalais, Emmanuel, additional, Srivastava, Siddharth, additional, Tan, Wen Hann, additional, Olson, Heather E, additional, Loddenkemper, Tobias, additional, Poduri, Annapurna, additional, Helbig, Katherine L, additional, Helbig, Ingo, additional, Fitzgerald, Mark P, additional, Goldberg, Ethan M, additional, Roser, Timo, additional, Borggraefe, Ingo, additional, Brünger, Tobias, additional, May, Patrick, additional, Lal, Dennis, additional, Lederer, Damien, additional, Rubboli, Guido, additional, Heyne, Henrike O, additional, Lesca, Gaetan, additional, Hedrich, Ulrike B S, additional, Benda, Jan, additional, Gardella, Elena, additional, Lerche, Holger, additional, and Møller, Rikke S, additional
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- 2021
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78. Risk Stratification of Elderly Patients Undergoing Spinal Surgery Using the Modified Frailty Index
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Kweh, Barry Ting Sheen, Lee, Hui Qing, Tan, Terence, Tew, Kim Siong, Leong, Ronald, Fitzgerald, Mark, Matthew, Joseph, Kambourakis, Anthony, Liew, Susan, Hunn, Martin, and Tee, Jin Wee
- Abstract
Study Design: Retrospective cohort.Objectives: To validate the 11-item modified Frailty Index (mFI) as a perioperative risk stratification tool in elderly patients undergoing spine surgery.Methods: All consecutive cases of spine surgery in patients aged 65 years or older between July 2016 and June 2018 at a state-wide trauma center were retrospectively reviewed. The primary outcome was post-operative major complication rate (Clavien-Dindo Classification ≥ III). Secondary outcome measures included the rate of all complications, 6-month mortality and surgical site infection.Results: A total of 348 cases were identified. The major complication rate was significantly lower in patients with an mFI of 0 compared to ≥ 0.45 (18.3% versus 42.5%, P= .049). As the mFI increased from 0 to ≥ 0.45 there was a stepwise increase in risk of major complications (P< .001). Additionally, 6-month mortality rate was considerably lower when the mFI was 0 rather than ≥ 0.27 (4.2% versus 20.4%, P= .007). Multivariate analysis demonstrated an mFI ≥ 0.27 was significantly associated with an increased incidence of major complication (OR 2.80, 95% CI 1.46-5.35, P= .002), all complication (OR 2.93, 95% CI 1.70-15.11, P< .001), 6-month mortality (OR 7.39, 95% CI 2.55-21.43, P< .001) and surgical site infection (OR 4.43, 95% CI 1.71-11.51, P= .002). The American Society of Anesthesiologists’ (ASA) index did not share a stepwise relationship with any outcome.Conclusion: The mFI is significantly associated in a gradated fashion with increased morbidity and mortality. Patients with an mFI ≥ 0.27 are at greater risk of major complications, all-complications, 6-monthy mortality, and surgical site infection.
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- 2023
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79. Delayed presentation with cardiac tamponade due to blunt thoracic trauma and ruptured left atrial appendage
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Oates, Matthew, Iyer, Anand, Fitzgerald, Mark, Yadav, Sumit, and Saxena, Pankaj
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- 2017
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80. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
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Johannesen, Katrine M., Liu, Yuanyuan, Gjerulfsen, Cathrine E., Koko, Mahmoud, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R., Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Au, P. Y. Billie, Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico, Verhelst, Helene, S.Verhoeven, Judith, van der Zwaag, Bert, Harder, Aster V. E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Le, Ngoc Minh, Christensen, Jakob, Schmidt-Petersen, Mette U., Grønborg, Sabine, Scherer, Stephen W., Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destrée, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen-Hann, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Lesca, Gaetan, Hedrich, Ulrike B. S., Benda, Jan, Gardella, Elena, Lerche, Holger, Møller, Rikke S., and Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]
- Subjects
Genetics & genetic processes [F10] [Life sciences] ,Génétique & processus génétiques [F10] [Sciences du vivant] - Abstract
We report detailed functional analyses and genotype-phenotype correlations in 433 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel NaV1.6. Five different clinical subgroups could be identified: 1) Benign familial infantile epilepsy (BFIE) (n=17, normal cognition, treatable seizures), 2) intermediate epilepsy (n=36, mild ID, partially pharmacoresponsive), 3) developmental and epileptic encephalopathy (DEE, n=191, severe ID, majority pharmacoresistant), 4) generalized epilepsy (n=21, mild to moderate ID, frequently with absence seizures), and 5) affected individuals without epilepsy (n=25, mild to moderate ID). Groups 1-3 presented with early-onset (median: four months) focal or multifocal seizures and epileptic discharges, whereas the onset of seizures in group 4 was later (median: 39 months) with generalized epileptic discharges. The epilepsy was not classifiable in 143 individuals. We performed functional studies expressing missense variants in ND7/23 neuroblastoma cells and primary neuronal cultures using recombinant tetrodotoxin insensitive human NaV1.6 channels and whole-cell patch clamping. Two variants causing DEE showed a strong gain-of-function (GOF, hyperpolarising shift of steady-state activation, strongly increased neuronal firing rate), and one variant causing BFIE or intermediate epilepsy showed a mild GOF (defective fast inactivation, less increased firing). In contrast, all three variants causing generalized epilepsy induced a loss-of-function (LOF, reduced current amplitudes, depolarising shift of steady-state activation, reduced neuronal firing). Including previous studies, functional effects were known for 165 individuals. All 133 individuals carrying GOF variants had either focal (76, groups 1-3), or unclassifiable epilepsy (37), whereas 32 with LOF variants had either generalized (14), no (11) or unclassifiable (5) epilepsy; only two had DEE. Computational modeling in the GOF group revealed a significant correlation between the severity of the electrophysiological and clinical phenotypes. GOF variant carriers responded significantly better to sodium channel blockers (SCBs) than to other anti-seizure medications, and the same applied for all individuals of groups 1-3.In conclusion, our data reveal clear genotype-phenotype correlations between age at seizure onset, type of epilepsy and gain- or loss-of-function effects of SCN8A variants. Generalized epilepsy with absence seizures is the main epilepsy phenotype of LOF variant carriers and the extent of the electrophysiological dysfunction of the GOF variants is a main determinant of the severity of the clinical phenotype in focal epilepsies. Our pharmacological data indicate that SCBs present a therapeutic treatment option in early onset SCN8A-related focal epilepsy.
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- 2021
81. The Australian Traumatic Brain Injury National Data (ATBIND) project: a mixed methods study protocol.
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O'Reilly, Gerard M, Curtis, Kate, Kim, Yesul, Mitra, Biswadev, Hunter, Kate, Ryder, Courtney, Hendrie, Delia V, Rushworth, Nick, Afroz, Afsana, D'Angelo, Shane, Tee, Jin, and Fitzgerald, Mark C
- Abstract
Background: Traumatic brain injury (TBI) is the largest contributor to death and disability in people who have experienced physical trauma. There are no national data on outcomes for people with moderate to severe TBI in Australia.Objectives: To determine the incidence and key determinants of outcomes for patients with moderate to severe TBI, both for Australia and for selected population subgroups, including Aboriginal and Torres Strait Islander Australians.Methods and Analysis: The Australian Traumatic Brain Injury National Data (ATBIND) project will analyse Australia New Zealand Trauma Registry (ATR) data and National Coronial Information Service (NCIS) deaths data. The ATR documents the demographic characteristics, injury event description and severity, processes of care, and outcomes for people with major injury, including TBI, assessed and managed at the 27 major trauma services in Australia. We will include data for people with moderate to severe TBI (Abbreviated Injury Scale [AIS] (head) score higher than 2) who had Injury Severity Scores [ISS] higher than 12 or who died in hospital. People will also be included if they died before reaching a major trauma service and the coronial report details were consistent with moderate to severe TBI. The primary research outcome will be survival to discharge. Secondary outcomes will be hospital discharge destination, hospital length of stay, ventilator-free days, and health service cost.Ethics Approval: The Alfred Ethics Committee approved ATR data extraction (project reference number 670/21). Further ethics approval has been sought from the NCIS and multiple Aboriginal health research ethics committees. The ATBIND project will conform with Indigenous data sovereignty principles.Dissemination Of Results: Our findings will be disseminated by project partners with the aim of informing improvements in equitable system-level care for all people in Australia with moderate to severe TBI.Study Registration: Not applicable. [ABSTRACT FROM AUTHOR]- Published
- 2022
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82. IL1RAPL1 Gene Deletion in a Female Patient with Developmental Delay and Continuous Spike-Wave during Sleep
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Jiang, Evan, additional, Fitzgerald, Mark P., additional, Helbig, Katherine L., additional, and Goldberg, Ethan M., additional
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- 2021
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83. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
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Bonardi, Claudia M, primary, Heyne, Henrike O, additional, Fiannacca, Martina, additional, Fitzgerald, Mark P, additional, Gardella, Elena, additional, Gunning, Boudewijn, additional, Olofsson, Kern, additional, Lesca, Gaétan, additional, Verbeek, Nienke, additional, Stamberger, Hannah, additional, Striano, Pasquale, additional, Zara, Federico, additional, Mancardi, Maria M, additional, Nava, Caroline, additional, Syrbe, Steffen, additional, Buono, Salvatore, additional, Baulac, Stephanie, additional, Coppola, Antonietta, additional, Weckhuysen, Sarah, additional, Schoonjans, An-Sofie, additional, Ceulemans, Berten, additional, Sarret, Catherine, additional, Baumgartner, Tobias, additional, Muhle, Hiltrud, additional, Portes, Vincent des, additional, Toulouse, Joseph, additional, Nougues, Marie-Christine, additional, Rossi, Massimiliano, additional, Demarquay, Geneviève, additional, Ville, Dorothée, additional, Hirsch, Edouard, additional, Maurey, Hélène, additional, Willems, Marjolaine, additional, de Bellescize, Julitta, additional, Altuzarra, Cecilia Desmettre, additional, Villeneuve, Nathalie, additional, Bartolomei, Fabrice, additional, Picard, Fabienne, additional, Hornemann, Frauke, additional, Koolen, David A, additional, Kroes, Hester Y, additional, Reale, Chiara, additional, Fenger, Christina D, additional, Tan, Wen-Hann, additional, Dibbens, Leanne, additional, Bearden, David R, additional, Møller, Rikke S, additional, and Rubboli, Guido, additional
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- 2021
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84. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
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Bonardi, Claudia M., Heyne, H.O., Fiannacca, Martina, Fitzgerald, Mark P., Gardella, E., Gunning, B., Koolen, D.A., Moller, Rikke S., Rubboli, Guido, Bonardi, Claudia M., Heyne, H.O., Fiannacca, Martina, Fitzgerald, Mark P., Gardella, E., Gunning, B., Koolen, D.A., Moller, Rikke S., and Rubboli, Guido
- Abstract
Item does not contain fulltext
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- 2021
85. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
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Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Johannesen, Katrine M., Liu, Yuanyuan, Gjerulfsen, Cathrine E., Koko, Mahmoud, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R., Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Au, P. Y. Billie, Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico, Verhelst, Helene, S.Verhoeven, Judith, van der Zwaag, Bert, Harder, Aster V. E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Le, Ngoc Minh, Christensen, Jakob, Schmidt-Petersen, Mette U., Grønborg, Sabine, Scherer, Stephen W., Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destrée, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen-Hann, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Lesca, Gaetan, Hedrich, Ulrike B. S., Benda, Jan, Gardella, Elena, Lerche, Holger, Møller, Rikke S., Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Johannesen, Katrine M., Liu, Yuanyuan, Gjerulfsen, Cathrine E., Koko, Mahmoud, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R., Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Au, P. Y. Billie, Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico, Verhelst, Helene, S.Verhoeven, Judith, van der Zwaag, Bert, Harder, Aster V. E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Le, Ngoc Minh, Christensen, Jakob, Schmidt-Petersen, Mette U., Grønborg, Sabine, Scherer, Stephen W., Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destrée, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen-Hann, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Lesca, Gaetan, Hedrich, Ulrike B. S., Benda, Jan, Gardella, Elena, Lerche, Holger, and Møller, Rikke S.
- Abstract
We report detailed functional analyses and genotype-phenotype correlations in 433 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel NaV1.6. Five different clinical subgroups could be identified: 1) Benign familial infantile epilepsy (BFIE) (n=17, normal cognition, treatable seizures), 2) intermediate epilepsy (n=36, mild ID, partially pharmacoresponsive), 3) developmental and epileptic encephalopathy (DEE, n=191, severe ID, majority pharmacoresistant), 4) generalized epilepsy (n=21, mild to moderate ID, frequently with absence seizures), and 5) affected individuals without epilepsy (n=25, mild to moderate ID). Groups 1-3 presented with early-onset (median: four months) focal or multifocal seizures and epileptic discharges, whereas the onset of seizures in group 4 was later (median: 39 months) with generalized epileptic discharges. The epilepsy was not classifiable in 143 individuals. We performed functional studies expressing missense variants in ND7/23 neuroblastoma cells and primary neuronal cultures using recombinant tetrodotoxin insensitive human NaV1.6 channels and whole-cell patch clamping. Two variants causing DEE showed a strong gain-of-function (GOF, hyperpolarising shift of steady-state activation, strongly increased neuronal firing rate), and one variant causing BFIE or intermediate epilepsy showed a mild GOF (defective fast inactivation, less increased firing). In contrast, all three variants causing generalized epilepsy induced a loss-of-function (LOF, reduced current amplitudes, depolarising shift of steady-state activation, reduced neuronal firing). Including previous studies, functional effects were known for 165 individuals. All 133 individuals carrying GOF variants had either focal (76, groups 1-3), or unclassifiable epilepsy (37), whereas 32 with LOF variants had either generalized (14), no (11) or unclassifiable (5) epilepsy; only two had DEE. Computational modeling in the GOF group revealed a signific
- Published
- 2021
86. KCNT1-related epilepsies and epileptic encephalopathies:phenotypic and mutational spectrum
- Author
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Bonardi, Claudia M., Heyne, Henrike O., Fiannacca, Martina, Fitzgerald, Mark P., Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M., Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Doroth Crossed D.sign©e, Hirsch, Edouard, Maurey, HCrossed D.sign©lène, Willems, Marjolaine, De Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A., Kroes, Hester Y., Reale, Chiara, Fenger, Christina D., Tan, Wen Hann, Dibbens, Leanne, Bearden, David R., Møller, Rikke S., Rubboli, Guido, Bonardi, Claudia M., Heyne, Henrike O., Fiannacca, Martina, Fitzgerald, Mark P., Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M., Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Doroth Crossed D.sign©e, Hirsch, Edouard, Maurey, HCrossed D.sign©lène, Willems, Marjolaine, De Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A., Kroes, Hester Y., Reale, Chiara, Fenger, Christina D., Tan, Wen Hann, Dibbens, Leanne, Bearden, David R., Møller, Rikke S., and Rubboli, Guido
- Abstract
Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy to epilepsy of infancy with migrating focal seizures (EIMFS) and include developmental and epileptic encephalopathies. This study aims to provide a comprehensive overview of the phenotypic and genotypic spectrum of KCNT1 mutation-related epileptic disorders in 248 individuals, including 66 previously unpublished and 182 published cases, the largest cohort reported so far. Four phenotypic groups emerged from our analysis: (i) EIMFS (152 individuals, 33 previously unpublished); (ii) developmental and epileptic encephalopathies other than EIMFS (non-EIMFS developmental and epileptic encephalopathies) (37 individuals, 17 unpublished); (iii) autosomal dominant or sporadic sleep-related hypermotor epilepsy (53 patients, 14 unpublished); and (iv) other phenotypes (six individuals, two unpublished). In our cohort of 66 new cases, the most common phenotypic features were: (i) in EIMFS, heterogeneity of seizure types, including epileptic spasms, epilepsy improvement over time, no epilepsy-related deaths; (ii) in non-EIMFS developmental and epileptic encephalopathies, possible onset with West syndrome, occurrence of atypical absences, possible evolution to developmental and epileptic encephalopathies with sleep-related hypermotor epilepsy features; one case of sudden unexplained death in epilepsy; (iii) in autosomal dominant or sporadic sleep-related hypermotor epilepsy, we observed a high prevalence of drug-resistance, although seizure frequency improved with age in some individuals, appearance of cognitive regression after seizure onset in all patients, no reported severe psychiatric disorders, although behavioural/psychiatric comorbidities were reported in ∼50% of the patients, sudden unexplained death in epilepsy
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- 2021
87. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
- Author
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Genetica Klinische Genetica, Child Health, Bonardi, Claudia M, Heyne, Henrike O, Fiannacca, Martina, Fitzgerald, Mark P, Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M, Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An-Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie-Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Dorothée, Hirsch, Edouard, Maurey, Hélène, Willems, Marjolaine, de Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A, Kroes, Hester Y, Reale, Chiara, Fenger, Christina D, Tan, Wen-Hann, Dibbens, Leanne, Bearden, David R, Møller, Rikke S, Rubboli, Guido, Genetica Klinische Genetica, Child Health, Bonardi, Claudia M, Heyne, Henrike O, Fiannacca, Martina, Fitzgerald, Mark P, Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M, Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An-Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie-Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Dorothée, Hirsch, Edouard, Maurey, Hélène, Willems, Marjolaine, de Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A, Kroes, Hester Y, Reale, Chiara, Fenger, Christina D, Tan, Wen-Hann, Dibbens, Leanne, Bearden, David R, Møller, Rikke S, and Rubboli, Guido
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- 2021
88. Molnupiravir plus usual care versus usual care alone as early treatment for adults with COVID-19 at increased risk of adverse outcomes (PANORAMIC): an open-label, platform-adaptive randomised controlled trial
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Butler, Christopher C, Hobbs, F D Richard, Gbinigie, Oghenekome A, Rahman, Najib M, Hayward, Gail, Richards, Duncan B, Dorward, Jienchi, Lowe, David M, Standing, Joseph F, Breuer, Judith, Khoo, Saye, Petrou, Stavros, Hood, Kerenza, Nguyen-Van-Tam, Jonathan S, Patel, Mahendra G, Saville, Benjamin R, Marion, Joe, Ogburn, Emma, Allen, Julie, Rutter, Heather, Francis, Nick, Thomas, Nicholas P B, Evans, Philip, Dobson, Melissa, Madden, Tracie-Ann, Holmes, Jane, Harris, Victoria, Png, May Ee, Lown, Mark, van Hecke, Oliver, Detry, Michelle A, Saunders, Christina T, Fitzgerald, Mark, Berry, Nicholas S, Mwandigha, Lazaro, Galal, Ushma, Mort, Sam, Jani, Bhautesh D, Hart, Nigel D, Ahmed, Haroon, Butler, Daniel, McKenna, Micheal, Chalk, Jem, Lavallee, Layla, Hadley, Elizabeth, Cureton, Lucy, Benysek, Magdalena, Andersson, Monique, Coates, Maria, Barrett, Sarah, Bateman, Clare, Davies, Jennifer C, Raymundo-Wood, Ivy, Ustianowski, Andrew, Carson-Stevens, Andrew, Yu, Ly-Mee, Little, Paul, Agyeman, Akosua A, Ahmed, Tanveer, Allcock, Damien, Beltran-Martinez, Adrian, Benedict, Oluseye E, Bird, Nigel, Brennan, Laura, Brown, Julianne, Burns, Gerard, Butler, Mike, Cheng, Zelda, Danson, Ruth, de Kare-Silver, Nigel, Dhasmana, Devesh, Dickson, Jon, Engamba, Serge, Fisher, Stacey, Fox, Robin, Frost, Eve, Gaunt, Richard, Ghosh, Sarit, Gilkar, Ishtiaq, Goodman, Anna, Granier, Steve, Howell, Aleksandra, Hussain, Iqbal, Hutchinson, Simon, Imlach, Marie, Irving, Greg, Jacobsen, Nicholas, Kennard, James, Khan, Umar, Knox, Kyle, Krasucki, Christopher, Law, Tom, Lee, Rem, Lester, Nicola, Lewis, David, Lunn, James, Mackintosh, Claire I., Mathukia, Mehul, Moore, Patrick, Morton, Seb, Murphy, Daniel, Nally, Rhiannon, Ndukauba, Chinonso, Ogundapo, Olufunto, Okeke, Henry, Patel, Amit, Patel, Kavil, Penfold, Ruth, Poonian, Satveer, Popoola, Olajide, Pora, Alexander, Prasad, Vibhore, Prasad, Rishabh, Razzaq, Omair, Richardson, Scot, Royal, Simon, Safa, Afsana, Sehdev, Satash, Sevenoaks, Tamsin, Shah, Divya, Sheikh, Aadil, Short, Vanessa, Sidhu, Baljinder S, Singh, Ivor, Soni, Yusuf, Thalasselis, Chris, Wilson, Pete, Wingfield, David, Wong, Michael, Woodall, Maximillian N J, Wooding, Nick, Woods, Sharon, Yong, Joanna, Yongblah, Francis, and Zafar, Azhar
- Abstract
The safety, effectiveness, and cost-effectiveness of molnupiravir, an oral antiviral medication for SARS-CoV-2, has not been established in vaccinated patients in the community at increased risk of morbidity and mortality from COVID-19. We aimed to establish whether the addition of molnupiravir to usual care reduced hospital admissions and deaths associated with COVID-19 in this population.
- Published
- 2023
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89. Rib fixation in non-ventilator-dependent chest wall injuries: A prospective randomized trial.
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Marasco, Silvana Francesca, Balogh, Zsolt J., Wullschleger, Martin E., Hsu, Jeremy, Patel, Bhavik, Fitzgerald, Mark, Martin, Kate, Summerhayes, Robyn, and Bailey, Michael
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- 2022
- Full Text
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90. Initial Efforts to Manage IPE during the COVID-19 Pandemic: Reports from the Big Ten IPE Academic Alliance.
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Smith, Laura J., Romito, Laura, Congdon, Heather B., Ascione, Frank J., Fitzgerald, Mark, Karpa, Kelly, Pfiefle, Andrea, Sick, Brian, and Khalili, Hossein
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- 2022
91. Fluoroquinolones for the Treatment of Pulmonary Tuberculosis
- Author
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Moadebi, Susanne, Harder, Curtis K., Fitzgerald, Mark J., Elwood, Kevin R., and Marra, Fawziah
- Published
- 2007
- Full Text
- View/download PDF
92. Acute psychosis presenting in a patient with systemic lupus erythematosus: Questions
- Author
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Sharma, Sheena, Lerman, Melissa A., Fitzgerald, Mark P., and Ruebner, Rebecca L.
- Published
- 2016
- Full Text
- View/download PDF
93. Evaluating health-related quality-of-life studies in paediatric populations: Some conceptual, methodological and developmental considerations and recent applications
- Author
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De Civita, Mirella, Regier, Dean, Alamgir, Abul H., Anis, Aslam H., FitzGerald, Mark J., and Marra, Carlo A.
- Published
- 2005
- Full Text
- View/download PDF
94. Molecular phylogeny of the Australian venomous snake genus Hoplocephalus (Serpentes, Elapidae) and conservation genetics of the threatened H. stephensii
- Author
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Keogh, Scott J., Scott, Ian A.W., Fitzgerald, Mark, and Shine, Richard
- Published
- 2003
- Full Text
- View/download PDF
95. Tolerance for error and computational estimation ability
- Author
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Hogan, Thomas P., Wyckoff, Laurie A., Krebs, Paul, Jones, William, and Fitzgerald, Mark P.
- Subjects
Toleration ,Estimation theory ,Psychology and mental health - Abstract
Previous investigators have suggested that the personality variable tolerance for error is related to success in computational estimation. However, this suggestion has not been tested directly. This study examined the relationship between performance on a computational estimation test and scores on the NEO-Five Factor Inventory, a measure of the Big Five personality traits, including Openness, an index of tolerance for ambiguity. Other variables included SAT-I Verbal and Mathematics scores and self-rated mathematics ability. Participants were 65 college students. There was no significant relationship between the tolerance variable and computational estimation performance. There was a modest negative relationship between Agreeableness and estimation performance. The skepticism associated with the negative pole of the Agreeableness dimension may be important to pursue in further understanding of estimation ability.
- Published
- 2004
96. Accidental altruism in insular pit-vipers (Gloydius shedaoensis, Viperidae)
- Author
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Shine, Richard, Sun, Li-Xin, Fitzgerald, Mark, and Kearney, Michael
- Published
- 2002
- Full Text
- View/download PDF
97. Repression of transcription of the p27Kip1 cyclin-dependent kinase inhibitor gene by c-Myc
- Author
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Yang, William, Shen, Jian, Wu, Min, Arsura, Marcello, FitzGerald, Mark, Suldan, Zalman, Kim, Dong W, Hofmann, Claudia S, Pianetti, Stefania, Romieu-Mourez, Raphaëlle, Freedman, Leonard P, and Sonenshein, Gail E
- Published
- 2001
- Full Text
- View/download PDF
98. Drug Resistance Study of Mycobacterium tuberculosis in Canada, February 1, 1993 to January 31, 1994
- Author
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Farzad, Ezzat, Holton, Donna, Long, Richard, FitzGerald, Mark, Laszlo, Adalbert, Njoo, Howard, Fanning, Anne, Hershfield, Earl, Hoeppner, Vernon, and Allen, Edward
- Published
- 2000
- Full Text
- View/download PDF
99. Differential effects of the widely expressed dMax splice variant of Max on E-box vs initiator element-mediated regulation by c-Myc
- Author
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FitzGerald, Mark J, Arsura, Marcello, Bellas, Robert E, Yang, William, Wu, Min, Chin, Lynda, Mann, Koren K, DePinho, Ronald A, and Sonenshein, Gail E
- Published
- 1999
- Full Text
- View/download PDF
100. A deletion in Eml1 leads to bilateral subcortical heterotopia in the tish rat
- Author
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Grosenbaugh, Denise K., primary, Joshi, Suchitra, additional, Fitzgerald, Mark P., additional, Lee, Kevin S., additional, Wagley, Pravin K., additional, Koeppel, Alexander F., additional, Turner, Stephen D., additional, McConnell, Michael J., additional, and Goodkin, Howard P., additional
- Published
- 2020
- Full Text
- View/download PDF
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