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8 results on '"Tirupathi, Sandya"'

1. Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy

Author

Gowda, Vasantha Lakshmi, Fernandez, Miguel, Prasad, Manish, Childs, Anne-Marie, Hughes, Imelda, Tirupathi, Sandya, De Goede, Christian Gaudentius Engelbert Lourens, O’Rourke, Declan, Parasuraman, Deepak, Willis, Tracey, Saberian, Samira, and Davidson, Ian

Abstract

ObjectiveTo describe age and time at key stages in the Duchenne muscular dystrophy (DMD) prediagnosis pathway at selected centres to identify opportunities for service improvement.DesignA multicentre retrospective national audit.SettingNine tertiary neuromuscular centres across the UK and Ireland. A prior single-centre UK audit of 20 patients with no DMD family history provided benchmark criteria.PatientsPatients with a definitive diagnosis of DMD documented within 3 years prior to December 2018 (n=122).Main outcome measuresMean age (months) at four key stages in the DMD diagnostic pathway and mean time (months) of presentational and diagnostic delay, and time from first reported symptoms to definitive diagnosis. Type of symptoms was also recorded.ResultsOverall, mean age at definitive diagnosis, age at first engagement with healthcare professional (HCP) and age at first reported symptoms were 53.9±29.7, 49.9±28.9 and 36.4±26.8 months, respectively. The presentational delay and time to diagnosis were 21.1 (±21.1) and 4.6 (±7.9) months, respectively. The mean time from first reported symptoms to definitive diagnosis was 24.2±20.9. The percentages of patients with motor and/or non-motor symptoms recorded were 88% (n=106/121) and 47% (n=57/121), respectively.ConclusionsMajority of data mirrored the benchmark audit. However, while the time to diagnosis was shorter, a presentational delay was observed. Failure to recognise early symptoms of DMD could be a contributing factor and represents an unmet need in the diagnosis pathway. Methods determining how to improve this need to be explored.

Published
2022
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2. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Author

Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K, Mirchi, Amytice, Saikali, Stephan, Tran, Luan T, Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M L, Naidu, Sakkubai, Pohl, Daniela, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M, Innes, A Micheil, Kauffman, Marcelo, Kirwin, Susan M, Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Moutton, Sebastien, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K, Stevens, Cathy A, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I, and Bernard, Geneviève

Published
2021
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3. How to use: creatine kinase

Author

Chakrabarty, Tanmoy, Tirupathi, Sandya, and Thompson, Andrew

Abstract

Creatine kinase (CK) remains an essential tool for assessment of muscular weakness and pain in children despite the advent of advanced diagnostic tests in this field. It is also useful in diagnosing and monitoring various other conditions. This article will explore the physiology of CK and clinical situations where the estimation of CK can help the clinicians’ decision-making process with the diagnosis and management of these conditions. Some clinical scenarios are used to highlight how the tests can be used in different clinical situations. The role of CK as a biomarker of myocardial injury has been purposefully omitted in this article.

Published
2020
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4. Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype.

Author

Moore, Rebecca S., Tirupathi, Sandya, Herron, Brian, Sands, Andrew, and Morrison, Patrick J.

Abstract

Background: Nonsense mutations in the dystrophin gene usually result in a severe Duchenne muscular dystrophy phenotype. Findings: We describe a 7-year-old boy with a rare pathogenic mutation in exon 29 c.3940C>T p.(Arg1314Ter) resulting in exon skipping, in turn rescuing the phenotype from a severe Duchenne type to a milder Becker muscular dystrophy type. No adults have been described with this mutation to date. Conclusions: Exon skipping of exon 29 results in a higher level of functional dystrophin. Some cases of muscular dystrophy may still require muscle biopsy to determine optimal management and pharmaceutical treatment options. [ABSTRACT FROM AUTHOR]

Published
2017

5. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Author

Wolf, Nicole I, Vanderver, Adeline, van Spaendonk, Rosalina M L, Schiffmann, Raphael, Brais, Bernard, Bugiani, Marianna, Sistermans, Erik, Catsman-Berrevoets, Coriene, Kros, Johan M, Pinto, Pedro Soares, Pohl, Daniela, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Fribourg, Sébastien, Demos, Michelle, Pizzino, Amy, Naidu, Sakkubai, Guerrero, Kether, and van der Knaap, Marjo S

Published
2014
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6. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Author

Wolf, Nicole I., Vanderver, Adeline, Van Spaendonk, Rosalina M. L., Schiffmann, Raphael, Brais, Bernard, Bugiani, Marianna, Sistermans, Erik, Catsman-Berrevoets, Coriene, Kros, Johan M., Pinto, Pedro Soares, Pohl, Daniela, Tirupathi, Sandya, Strømme, Petter, Grauw, Ton de, Fribourg, Sébastien, Demos, Michelle, Pizzino, Amy, Naidu, Sakkubai, Guerrero, Kether, and Van der Knaap, Marjo S.

Published
2014
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7. Analysis of factors influencing admission to intensive care following convulsive status epilepticus in children.

Author

Tirupathi, Sandya, McMenamin, Joseph B., and Webb, David W.

Abstract

Abstract: Objectives: To identify clinical features and therapeutic decisions that influence admission to the Intensive Care unit (ICU) in children presenting with convulsive status epilepticus (CSE). Methods: We evaluated 47 admissions with status epilepticus to a tertiary paediatric hospital A&E over a three year period (2003–2006). Following initial management 23 episodes required admission to ICU and 24 were managed on a paediatric ward. We compared clinical, demographic data and compliance with our CSE protocol between the ICU and ward groups. Results: Median age at presentation in the ICU group was 17 months (range 3 months–11 years) compared to 46 months in the ward group (range 3 months–10 years). Fifty per cent of patients in both groups had a previous history of seizures. Median duration of pre-hospital seizure activity was 30min in both groups. More than two doses of benzodiazepines were given as first line medication in 62% of the ICU group and 33% of the ward group. Among children admitted to ICU with CSE, 26% had been managed according to the CSE protocol, compared to 66% of children who were admitted to a hospital ward. Febrile seizures were the most common aetiology in both groups. Conclusion: Younger age at presentation, administration of more than two doses of benzodiazepines and deviation from the CSE protocol appear to be factors which influence admission of children to ICU. Recognition of pre-hospital administration of benzodiazepines and adherence to therapeutic guidelines may reduce the need for ventilatory support in this group. [Copyright &y& Elsevier]

Published
2009
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8. Clinical spectrum of 4H leukodystrophy caused by POLR3Aand POLR3Bmutations

Author

Wolf, Nicole I., Vanderver, Adeline, van Spaendonk, Rosalina M.L., Schiffmann, Raphael, Brais, Bernard, Bugiani, Marianna, Sistermans, Erik, Catsman-Berrevoets, Coriene, Kros, Johan M., Pinto, Pedro Soares, Pohl, Daniela, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Fribourg, Sébastien, Demos, Michelle, Pizzino, Amy, Naidu, Sakkubai, Guerrero, Kether, van der Knaap, Marjo S., and Bernard, Geneviève

Published
2014
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