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232 results on '"Davagnanam I"'

1. COVID-19 Stroke Apical Lung Examination Study 2: a national prospective CTA biomarker study of the lung apices, in patients presenting with suspected acute stroke (COVID SALES 2)

Author

Ratneswaren, T., Chan, N., Aeron-Thomas, J., Sait, S., Adesalu, O., Alhawamdeh, M., Benger, M., Garnham, J., Dixon, L., Tona, F., McNamara, C., Taylor, E., Lobotesis, K., Lim, E., Goldberg, O., Asmar, N., Evbuomwan, O., Banerjee, S., Holm-Mercer, L., Senor, J., Tsitsiou, Y., Tantrige, P., Taha, A., Ballal, K., Mattar, A., Daadipour, A., Elfergani, K., Barker, R., Chakravartty, R., Murchison, A.G., Kemp, B.J., Simister, R., Davagnanam, I., Wong, O.Y., Werring, D., Banaras, A., Anjari, M., Mak, J.K.C., Falzon, A.M., Rodrigues, J.C.L., Thompson, C.A.S., Haines, I.R., Burnett, T.A., Zaher, R.E.Y., Reay, V.L., Banerjee, M., Sew Hee, C.S.L., Oo, A.P., Lo, A., Rogers, P., Hughes, T., Marin, A., Mukherjee, S., Jaber, H., Sanders, E., Owen, S., Bhandari, M., Sundayi, S., Bhagat, A., Elsakka, M., Hashmi, O.H., Lymbouris, M., Gurung-Koney, Y., Arshad, M., Hasan, I., Singh, N., Patel, V., Rahiminejad, M., and Booth, T.C.

Published
2024
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7. Endgames

Author

Fletcher, John, Fletcher, Phillip, Davagnanam, I., and Harave, S.

Published
2009

9. Reply

Author

Bala, F., primary, Siddiqui, J., additional, Sciacca, S., additional, Falzon, A.M., additional, Benger, M., additional, Matloob, S.A., additional, Miller, F.N.A.C., additional, Simister, R.J., additional, Chatterjee, I., additional, Sztriha, L.K., additional, Davagnanam, I., additional, and Booth, T.C., additional

Published
2021
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10. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Author

Manole, A, Efthymiou, S, O'Connor, E, Mendes, MI, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, MR, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, CS, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, LB, Kara, B, Aslanger, AD, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, KM, Wang, L, Rosti, RO, Paracha, SA, Sarwar, MT, Jenkins, D, SYNAPS Study Group, Ahmed, J, Santoni, FA, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, IM, Guillen Sacoto, MJ, Si, Y, Telegrafi, A, Andrews, MV, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, AJM, Stevens, SJC, Bähler, J, Nasar, A, Mantovani, JF, Manzur, A, Sarkozy, A, Smith, DEC, Salomons, GS, Ahmed, ZM, Riazuddin, S, Usmani, MA, Seibt, A, Ansar, M, Antonarakis, SE, Vincent, JB, Ayub, M, Grimmel, M, Jelsig, AM, Hjortshøj, TD, Karstensen, HG, Hummel, M, Haack, TB, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, JG, Becker, H, Mandel, J-L, Koolen, DA, and Houlden, H

Abstract

Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families, presenting with microcephaly, neurodevelopmental delay, seizures, peripheral neuropathy, and ataxia, with de novo heterozygous and bi-allelic mutations in asparaginyl-tRNA synthetase (NARS1). We demonstrate a reduction in NARS1 mRNA expression as well as in NARS1 enzyme levels and activity in both individual fibroblasts and induced neural progenitor cells (iNPCs). Molecular modeling of the recessive c.1633C>T (p.Arg545Cys) variant shows weaker spatial positioning and tRNA selectivity. We conclude that de novo and bi-allelic mutations in NARS1 are a significant cause of neurodevelopmental disease, where the mechanism for de novo variants could be toxic gain-of-function and for recessive variants, partial loss-of-function.

Published
2020

11. ENDGAMES

Author

Noble, V St, Davagnanam, I, Farmer, S, Sedgwick, Philip, Kesavelu, Dhanasekhar, Dalzell, Mark, and Eaton, Vicki

Published
2011

12. A Comparison of Chest Radiograph and CTA Apical Pulmonary Findings in Patients Presenting with Suspected Acute Stroke during the COVID-19 Pandemic

Author

Siddiqui, J., primary, Bala, F., additional, Sciacca, S., additional, Falzon, A.M., additional, Benger, M., additional, Matloob, S.A., additional, Miller, F.N.A.C., additional, Simister, R.J., additional, Chatterjee, I., additional, Sztriha, L.K., additional, Davagnanam, I., additional, and Booth, T.C., additional

Published
2020
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16. MRI-visible perivascular spaces as an imaging biomarker in Fabry disease

Author

Lyndon, D., primary, Davagnanam, I., additional, Wilson, D., additional, Jichi, F., additional, Merwick, A., additional, Bolsover, F., additional, Jager, H. R., additional, Cipolotti, L., additional, Wheeler-Kingshott, C., additional, Hughes, D., additional, Murphy, E., additional, Lachmann, R., additional, and Werring, D. J., additional

Published
2020
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18. PICTURE QUIZ

Author

Davagnanam, I and Harave, S

Published
2009

19. Comparing two classification schemes for seizures and epilepsy in rural China

Author

Wang, F, Chen, Z, Davagnanam, I, Hoskote, C, Ding, D, Wang, W, Yang, B, Wang, Y, Wang, T, Li, W, Sander, JW, Kwan, P, Wang, F, Chen, Z, Davagnanam, I, Hoskote, C, Ding, D, Wang, W, Yang, B, Wang, Y, Wang, T, Li, W, Sander, JW, and Kwan, P

Abstract

BACKGROUND AND PURPOSE: The International League against Epilepsy (ILAE) updated the classifications of seizures and epilepsies in 2017. The 2017 classifications were compared with the 1980s classifications in rural China. METHODS: People with epilepsy receiving treatment under the National Epilepsy Control Programme were recruited from rural areas in China. Their seizures and epileptic syndrome were classified using the 1980s ILAE classification system and then re-classified according to the 2017 system. Differences in seizure, epilepsy and aetiology classifications were identified. RESULTS: A total of 597 individuals (58% males, aged 6-78 years) were included. Amongst them 535 (90%) had a single seizure type, 57 (9.55%) had two types and five (0.84%) had three. There was complete agreement between the 1981 and 2017 classifications for the 525 individuals with focal seizures. Seizures originally classified as generalized in 10 of 65 individuals were re-classified as unknown in the 2017 classification. Compared to the 1980s classifications, the proportion of individuals with unknown seizures and unknown epilepsy increased from 1.2% (7/597) to 2.8% (17/597, P = 0.002), and unknown aetiology increased from 32% (189/597: 182 cryptogenic and seven unclassified) to 39% (230/597; P < 0.001) in the 2017 classifications. CONCLUSIONS: The 1980s and 2017 classifications had 100% agreement in classifying focal seizures and epilepsy in rural China. A small but significant proportion of generalized seizures and epilepsy and aetiologies classified in the old classifications were re-classified to unknown in the new classifications. These results highlight the need for improvement in clinical evaluation of people with epilepsy in resource-poor settings.

Published
2019

21. Genetic and phenotypic characterization of NKX6‐2 ‐related spastic ataxia and hypomyelination

Author

Chelban, V., primary, Alsagob, M., additional, Kloth, K., additional, Chirita‐Emandi, A., additional, Vandrovcova, J., additional, Maroofian, R., additional, Davagnanam, I., additional, Bakhtiari, S., additional, AlSayed, M. D., additional, Rahbeeni, Z., additional, AlZaidan, H., additional, Malintan, N. T., additional, Johannsen, J., additional, Efthymiou, S., additional, Ghayoor Karimiani, E., additional, Mankad, K., additional, Al‐Shahrani, S. A., additional, Beiraghi Toosi, M., additional, AlShammari, M., additional, Groppa, S., additional, Haridy, N. A., additional, AlQuait, L., additional, Qari, A., additional, Huma, R., additional, Salih, M. A., additional, Almass, R., additional, Almutairi, F. B., additional, Hamad, M. H., additional, Alorainy, I. A., additional, Ramzan, K., additional, Imtiaz, F., additional, Puiu, M., additional, Kruer, M. C., additional, Bierhals, T., additional, Wood, N. W., additional, Colak, D., additional, Houlden, H., additional, and Kaya, N., additional

Published
2019
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27. Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination.

Author

Chelban, V., Alsagob, M., Kloth, K., Chirita‐Emandi, A., Vandrovcova, J., Maroofian, R., Davagnanam, I., Bakhtiari, S., AlSayed, M. D., Rahbeeni, Z., AlZaidan, H., Malintan, N. T., Johannsen, J., Efthymiou, S., Ghayoor Karimiani, E., Mankad, K., Al‐Shahrani, S. A., Beiraghi Toosi, M., AlShammari, M., and Groppa, S.

Subjects
LEUKODYSTROPHY, ATAXIA, GENETIC disorders, CEREBELLAR ataxia, SEIZURES (Medicine), RECESSIVE genes, HOMOZYGOSITY
Abstract

Background and purpose: Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases. Bi‐allelic mutations in NKX6‐2 were recently linked to spastic ataxia 8 with hypomyelinating leukodystrophy. Methods: Using a combination of homozygosity mapping, exome sequencing, and detailed clinical and neuroimaging assessment a series of new NKX6‐2 mutations in a multicentre setting is described. Then, all reported NKX6‐2 mutations and those identified in this study were combined and an in‐depth analysis of NKX6‐2‐related disease spectrum was provided. Results: Eleven new cases from eight families of different ethnic backgrounds carrying compound heterozygous and homozygous pathogenic variants in NKX6‐2 were identified, evidencing a high NKX6‐2 mutation burden in the hypomyelinating leukodystrophy disease spectrum. Our data reveal a phenotype spectrum with neonatal onset, global psychomotor delay and worse prognosis at the severe end and a childhood onset with mainly motor phenotype at the milder end. The phenotypic and neuroimaging expression in NKX6‐2 is described and it is shown that phenotypes with epilepsy in the absence of overt hypomyelination and diffuse hypomyelination without seizures can occur. Conclusions: NKX6‐2 mutations should be considered in patients with autosomal recessive, very early onset of nystagmus, cerebellar ataxia with hypotonia that rapidly progresses to spasticity, particularly when associated with neuroimaging signs of hypomyelination. Therefore, it is recommended that NXK6‐2 should be included in hypomyelinating leukodystrophy and spastic ataxia diagnostic panels. [ABSTRACT FROM AUTHOR]

Published
2020
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28. Bullseye's representation of cerebral white matter hyperintensities

Author

Sudre, C.H., primary, Gomez Anson, B., additional, Davagnanam, I., additional, Schmitt, A., additional, Mendelson, A.F., additional, Prados, F., additional, Smith, L., additional, Atkinson, D., additional, Hughes, A.D., additional, Chaturvedi, N., additional, Cardoso, M.J., additional, Barkhof, F., additional, Jaeger, H.R., additional, and Ourselin, S., additional

Published
2018
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30. Mutations in nkx6-2 cause progressive spastic-ataxia and hypomyelination

Author

Chelban, V., primary, Vandrovcova, J., additional, Lynch, D.S., additional, Zanetti, N., additional, Patel, N., additional, Ryten, M., additional, Botía, J.A., additional, Eftymiou, S., additional, Davagnanam, I., additional, Wood, N., additional, Rothman, J.E., additional, Alkuraya, F.S., additional, and Houlden, H., additional

Published
2017
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31. Comparing two classification schemes for seizures and epilepsy in rural China.

Author

Wang, F., Chen, Z., Davagnanam, I., Hoskote, C., Ding, D., Wang, W., Yang, B., Wang, Y., Wang, T., Li, W., Sander, J. W., and Kwan, P.

Abstract

Background and purpose: The International League against Epilepsy (ILAE) updated the classifications of seizures and epilepsies in 2017. The 2017 classifications were compared with the 1980s classifications in rural China. Methods: People with epilepsy receiving treatment under the National Epilepsy Control Programme were recruited from rural areas in China. Their seizures and epileptic syndrome were classified using the 1980s ILAE classification system and then re‐classified according to the 2017 system. Differences in seizure, epilepsy and aetiology classifications were identified. Results: A total of 597 individuals (58% males, aged 6–78 years) were included. Amongst them 535 (90%) had a single seizure type, 57 (9.55%) had two types and five (0.84%) had three. There was complete agreement between the 1981 and 2017 classifications for the 525 individuals with focal seizures. Seizures originally classified as generalized in 10 of 65 individuals were re‐classified as unknown in the 2017 classification. Compared to the 1980s classifications, the proportion of individuals with unknown seizures and unknown epilepsy increased from 1.2% (7/597) to 2.8% (17/597, P = 0.002), and unknown aetiology increased from 32% (189/597: 182 cryptogenic and seven unclassified) to 39% (230/597; P < 0.001) in the 2017 classifications. Conclusions: The 1980s and 2017 classifications had 100% agreement in classifying focal seizures and epilepsy in rural China. A small but significant proportion of generalized seizures and epilepsy and aetiologies classified in the old classifications were re‐classified to unknown in the new classifications. These results highlight the need for improvement in clinical evaluation of people with epilepsy in resource‐poor settings. [ABSTRACT FROM AUTHOR]

Published
2019
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34. Effect of white-matter lesions on the risk of periprocedural stroke after carotid artery stenting versus endarterectomy in the International Carotid Stenting Study (ICSS): a prespecified analysis of data from a randomised trial

Author

Ederle, J., Davagnanam, I., Worp, H.B. van der, Venables, G.S., Lyrer, P.A., Featherstone, R.L., Brown, M.M., Jager, H.R., Leeuw, F.E. de, Schultze Kool, L.J., Vliet, J.A. van der, et al., Ederle, J., Davagnanam, I., Worp, H.B. van der, Venables, G.S., Lyrer, P.A., Featherstone, R.L., Brown, M.M., Jager, H.R., Leeuw, F.E. de, Schultze Kool, L.J., Vliet, J.A. van der, and et al.

Abstract

Item does not contain fulltext, BACKGROUND: Findings from randomised trials have shown a higher early risk of stroke after carotid artery stenting than after carotid endarterectomy. We assessed whether white-matter lesions affect the perioperative risk of stroke in patients treated with carotid artery stenting versus carotid endarterectomy. METHODS: Patients with symptomatic carotid artery stenosis included in the International Carotid Stenting Study (ICSS) were randomly allocated to receive carotid artery stenting or carotid endarterectomy. Copies of baseline brain imaging were analysed by two investigators, who were masked to treatment, for the severity of white-matter lesions using the age-related white-matter changes (ARWMC) score. Randomisation was done with a computer-generated sequence (1:1). Patients were divided into two groups using the median ARWMC. We analysed the risk of stroke within 30 days of revascularisation using a per-protocol analysis. ICSS is registered with controlled-trials.com, number ISRCTN 25337470. FINDINGS: 1036 patients (536 randomly allocated to carotid artery stenting, 500 to carotid endarterectomy) had baseline imaging available. Median ARWMC score was 7, and patients were dichotomised into those with a score of 7 or more and those with a score of less than 7. In patients treated with carotid artery stenting, those with an ARWMC score of 7 or more had an increased risk of stroke compared with those with a score of less than 7 (HR for any stroke 2.76, 95% CI 1.17-6.51; p=0.021; HR for non-disabling stroke 3.00, 1.10-8.36; p=0.031), but we did not see a similar association in patients treated with carotid endarterectomy (HR for any stroke 1.18, 0.40-3.55; p=0.76; HR for disabling or fatal stroke 1.41, 0.38-5.26; p=0.607). Carotid artery stenting was associated with a higher risk of stroke compared with carotid endarterectomy in patients with an ARWMC score of 7 or more (HR for any stroke 2.98, 1.29-6.93; p=0.011; HR for non-disabling stroke 6.34, 1.45-27.71; p=0.014)

Published
2013

35. A practical approach to diagnosing adult onset leukodystrophies

Author

Ahmed, R. M., primary, Murphy, E., additional, Davagnanam, I., additional, Parton, M., additional, Schott, J. M., additional, Mummery, C. J., additional, Rohrer, J. D., additional, Lachmann, R. H., additional, Houlden, H., additional, Fox, N. C., additional, and Chataway, J., additional

Published
2013
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