37 results on '"Gunny, Roxana"'
Search Results
2. Quantitative MRI susceptibility mapping reveals cortical signatures of changes in iron, calcium and zinc in malformations of cortical development in children with drug-resistant epilepsy
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Lorio, Sara, Sedlacik, Jan, So, Po-Wah, Parkes, Harold G., Gunny, Roxana, Löbel, Ulrike, Li, Yao-Feng, Ogunbiyi, Olumide, Mistry, Talisa, Dixon, Emma, Adler, Sophie, Cross, J. Helen, Baldeweg, Torsten, Jacques, Thomas S., Shmueli, Karin, and Carmichael, David W
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- 2021
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3. Magnetic resonance imaging findings in Kenyans and South Africans with active convulsive epilepsy: An observational study.
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Kariuki, Symon M., Wagner, Ryan G., Gunny, Roxana, D'Arco, Felice, Kombe, Martha, Ngugi, Anthony K., White, Steven, Odhiambo, Rachael, Cross, J. Helen, Sander, Josemir W., and Newton, Charles R. J. C.
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EPILEPSY ,HIPPOCAMPAL sclerosis ,MAGNETIC resonance imaging ,KENYANS ,SOUTH Africans ,BRAIN abnormalities - Abstract
Objective: Focal epilepsy is common in low‐ and middle‐income countries. The frequency and nature of possible underlying structural brain abnormalities have, however, not been fully assessed. Methods: We evaluated the possible structural causes of epilepsy in 331 people with epilepsy (240 from Kenya and 91 from South Africa) identified from community surveys of active convulsive epilepsy. Magnetic resonance imaging (MRI) scans were acquired on 1.5‐Tesla scanners to determine the frequency and nature of any underlying lesions. We estimated the prevalence of these abnormalities using Bayesian priors (from an earlier pilot study) and observed data (from this study). We used a mixed‐effect modified Poisson regression approach with the site as a random effect to determine the clinical features associated with neuropathology. Results: MRI abnormalities were found in 140 of 240 (modeled prevalence = 59%, 95% confidence interval [CI]: 53%–64%) of people with epilepsy in Kenya, and in 62 of 91 (modeled prevalence = 65%, 95% CI: 57%–73%) in South Africa, with a pooled modeled prevalence of 61% (95% CI: 56%–66%). Abnormalities were common in those with a history of adverse perinatal events (15/23 [65%, 95% CI: 43%–84%]), exposure to parasitic infections (83/120 [69%, 95% CI: 60%–77%]) and focal electroencephalographic features (97/142 [68%, 95% CI: 60%–76%]), but less frequent in individuals with generalized electroencephalographic features (44/99 [44%, 95% CI: 34%–55%]). Most abnormalities were potentially epileptogenic (167/202, 82%), of which mesial temporal sclerosis (43%) and gliosis (34%) were the most frequent. Abnormalities were associated with co‐occurrence of generalized non‐convulsive seizures (relative risk [RR] = 1.12, 95% CI: 1.04–1.25), lack of family history of seizures (RR = 0.91, 0.86–0.96), convulsive status epilepticus (RR = 1.14, 1.08–1.21), frequent seizures (RR = 1.12, 1.04–1.20), and reported use of anti‐seizure medication (RR = 1.22, 1.18–1.26). Significance: MRI identified pathologies are common in people with epilepsy in Kenya and South Africa. Mesial temporal sclerosis, the most common abnormality, may be amenable to surgical correction. MRI may have a diagnostic value in rural Africa, but future longitudinal studies should examine the prognostic role. [ABSTRACT FROM AUTHOR]
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- 2024
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4. Oxygen dependency of mitochondrial metabolism indicates outcome of newborn brain injury
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Bale, Gemma, Mitra, Subhabrata, de Roever, Isabel, Sokolska, Magdalena, Price, David, Bainbridge, Alan, Gunny, Roxana, Uria-Avellanal, Cristina, Kendall, Giles S, Meek, Judith, Robertson, Nicola J, and Tachtsidis, Ilias
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- 2019
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5. Imaging of Perinatal Stroke
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Gunny, Roxana S. and Lin, Doris
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- 2012
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6. The bony cochlear nerve canal in children with absent or hypoplastic cochlear nerves
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Pagarkar, Waheeda, Gunny, Roxana, Saunders, Dawn E., Yung, Wai, and Rajput, Kaukab
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- 2011
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7. RARS2 mutations in a sibship with infantile spasms
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Ngoh, Adeline, Bras, Jose, Guerreiro, Rita, Meyer, Esther, McTague, Amy, Dawson, Eleanor, Mankad, Kshitij, Gunny, Roxana, Clayton, Peter, Mills, Philippa B., Thornton, Rachel, Lai, Ming, Forsyth, Robert, and Kurian, Manju A.
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- 2016
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8. 76 - Paediatric Neuroradiology
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Gunny, Roxana S., Saunders, Dawn E, and Argyropoulou, Maria I.
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- 2021
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9. Are children with acute arterial ischaemic stroke eligible for hyperacute thrombolysis? A retrospective audit from a tertiary UK centre
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MARECOS, CLARA, GUNNY, ROXANA, ROBINSON, ROBERT, and GANESAN, VIJEYA
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- 2015
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10. Fourth ventricle rosette-forming glioneuronal tumour in children: an unusual presentation in an 8-year-old patient, discussion and review of the literature
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Thurston, Benjamin, Gunny, Roxana, Anderson, Glenn, Paine, Simon, Thompson, Dominic, Jacques, Thomas, and Ternier, Jessica
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- 2013
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11. Skull base osteomyelitis and potential cerebrovascular complications in children
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Severino, Mariasavina, Liyanage, Sidath, Novelli, Vas, Cheesborough, Beth, Saunders, Dawn, Gunny, Roxana, and Rossi, Andrea
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- 2012
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12. Oxygen dependency of mitochondrial metabolism indicates outcome of newborn brain injury
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Bale, Gemma, Mitra, Subhabrata, de Roever, Isabel, Sokolska, Magdalena, Price, David, Bainbridge, Alan, Gunny, Roxana, Uria-Avellanal, Cristina, Kendall, Giles S, Meek, Judith, Robertson, Nicola J, and Tachtsidis, Ilias
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Male ,near-infrared spectroscopy ,perinatal hypoxia ,Infant, Newborn ,Brain ,Original Articles ,Mitochondria ,Oxygen ,Treatment Outcome ,Hypothermia, Induced ,Brain Injuries ,Cerebrovascular Circulation ,Humans ,Female ,Cerebral haemodynamics ,Prospective Studies ,Hypoxia ,metabolism - Abstract
There is a need for a method of real-time assessment of brain metabolism during neonatal hypoxic-ischaemic encephalopathy (HIE). We have used broadband near-infrared spectroscopy (NIRS) to monitor cerebral oxygenation and metabolic changes in 50 neonates with HIE undergoing therapeutic hypothermia treatment. In 24 neonates, 54 episodes of spontaneous decreases in peripheral oxygen saturation (desaturations) were recorded between 6 and 81 h after birth. We observed differences in the cerebral metabolic responses to these episodes that were related to the predicted outcome of the injury, as determined by subsequent magnetic resonance spectroscopy derived lactate/N-acetyl-aspartate. We demonstrated that a strong relationship between cerebral metabolism (broadband NIRS-measured cytochrome-c-oxidase (CCO)) and cerebral oxygenation was associated with unfavourable outcome; this is likely to be due to a lower cerebral metabolic rate and mitochondrial dysfunction in severe encephalopathy. Specifically, a decrease in the brain tissue oxidation state of CCO greater than 0.06 µM per 1 µM brain haemoglobin oxygenation drop was able to predict the outcome with 64% sensitivity and 79% specificity (receiver operating characteristic area under the curve = 0.73). With further work on the implementation of this methodology, broadband NIRS has the potential to provide an early, cotside, non-invasive, clinically relevant metabolic marker of perinatal hypoxic-ischaemic injury.
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- 2018
13. Spontaneous regression of residual low-grade cerebellar pilocytic astrocytomas in children
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Gunny, Roxana S., Hayward, Richard D., Phipps, Kim P., Harding, Brian N., and Saunders, Dawn E.
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- 2005
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14. Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome
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Cross, Helen J, Arora, Ruchi, Heckemann, Rolf A, Gunny, Roxana, Chong, Kling, Carr, Lucinda, Baldeweg, Torsten, Differ, Ann-Marie, Lench, Nicholas, Varadkar, Sophie, Sirimanna, Tony, Wassmer, Evangeline, Hulton, Sally A, Ognjanovic, Milos, Ramesh, Venkateswaran, Feather, Sally, Kleta, Robert, Hammers, Alexander, and Bockenhauer, Detlef
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- 2013
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15. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A
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Cushion, Thomas D., Dobyns, William B., Mullins, Jonathan G. L., Stoodley, Neil, Chung, Seo-Kyung, Fry, Andrew E., Hehr, Ute, Gunny, Roxana, Aylsworth, Arthur S., Prabhakar, Prab, Uyanik, Gökhan, Rankin, Julia, Rees, Mark I., and Pilz, Daniela T.
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- 2013
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16. Is there a role for CT in the neonate?
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Olsen, Øystein E. and Gunny, Roxana
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- 2006
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17. Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: Expanding the phenotype to include vascular anomalies
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Horev, Liran, Lees, Melissa M., Anteby, Irene, Gomori, John M., Gunny, Roxana, and Ben-Neriah, Ziva
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- 2011
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18. Post mortem magnetic resonance imaging in the fetus, infant and child: A comparative study with conventional autopsy (MaRIAS Protocol)
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Thayyil Sudhin, Sebire Neil J, Chitty Lyn S, Wade Angie, Olsen Oystein, Gunny Roxana S, Offiah Amaka, Saunders Dawn E, Owens Catherine M, Chong WK 'Kling', Robertson Nicola J, and Taylor Andrew M
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Autopsy ,post mortem magnetic resonance imaging ,stillbirth ,sudden infant death ,diagnostic study ,minimally invasive autopsy ,Pediatrics ,RJ1-570 - Abstract
Abstract Background Minimally invasive autopsy by post mortem magnetic resonance (MR) imaging has been suggested as an alternative for conventional autopsy in view of the declining consented autopsy rates. However, large prospective studies rigorously evaluating the accuracy of such an approach are lacking. We intend to compare the accuracy of a minimally invasive autopsy approach using post mortem MR imaging with that of conventional autopsy in fetuses, newborns and children for detection of the major pathological abnormalities and/or determination of the cause of death. Methods/Design We recruited 400 consecutive fetuses, newborns and children referred for conventional autopsy to one of the two participating hospitals over a three-year period. We acquired whole body post mortem MR imaging using a 1.5 T MR scanner (Avanto, Siemens Medical Solutions, Enlargen, Germany) prior to autopsy. The total scan time varied between 90 to 120 minutes. Each MR image was reported by a team of four specialist radiologists (paediatric neuroradiology, paediatric cardiology, paediatric chest & abdominal imaging and musculoskeletal imaging), blinded to the autopsy data. Conventional autopsy was performed according to the guidelines set down by the Royal College of Pathologists (UK) by experienced paediatric or perinatal pathologists, blinded to the MR data. The MR and autopsy data were recorded using predefined categorical variables by an independent person. Discussion Using conventional post mortem as the gold standard comparator, the MR images will be assessed for accuracy of the anatomical morphology, associated lesions, clinical usefulness of information and determination of the cause of death. The sensitivities, specificities and predictive values of post mortem MR alone and MR imaging along with other minimally invasive post mortem investigations will be presented for the final diagnosis, broad diagnostic categories and for specific diagnosis of each system. Clinical Trial Registration NCT01417962 NIHR Portfolio Number: 6794
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- 2011
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19. List of Contributors
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Adams, Ashok, Addley, Helen, Agosto, Omar, Al Sarraf, Abdullah A., Alobeidi, Farah, Ameli-Renani, Seyed, Argyropoulou, Maria I., Arthurs, Owen, Balériaux, Danielle, Barber, Joy L., Barentsz, Jelle O., Barkhof, Frederik, Barnett, Joseph L., Barras, Christen D., Barrett, Tristan, Beale, Timothy, Beddy, Peter, Beigelman-Aubry, Catherine, Belli, Anna-Maria, Bhalla, Sanjeev, Bhattacharya, Joti Jonathan, Bogaert, Jan, Bomers, Joyce G.R., Boone, Darren, Bordonaro, Veronica, Breen, David J., Brillet, Pierre-Yves, Campbell, Robert S.D., Campion, Tom, Carey, Brian, Caroline, Dina F., Cazzato, Roberto Luigi, Chateil, Jean-François, Choudhury, Ananya, Chun, Joo-Young, Cook, Gary J.R., Copley, Susan J., Dass, Chandra, Davagnanam, Indran, Davies, A. Mark, Davies, Alun, de Rooij, Maarten, de Roos, Albert, Desai, Sujal R., Devaraj, Anand, Doran, Simon P., Easty, Marina, Evans, Andrew J., Fattori, Rossella, Fetita, Catalin I., Franquet, Tomás, Freeman, Alan H., Freeman, Susan, Gallagher, Ferdia A., Gangi, Afshin, Gibson, Robert N., Gillard, Jonathan H., Gleeson, Fergus, Godfrey, Edmund M., Goh, Vicky, Anson, Beatriz Gomez, Grainger, Andrew J., Granata, Claudio, Grenier, Philippe A., Gunny, Roxana S., Hadi, Mohammed, Hakim, Wasim, Hall, Charles B.O., Hamady, Mohamad, Hartmann, Ieneke J.C., Heaney, Roisin M., Hoskin, Peter, Hughes, Philip M., Humphries, Paul D., Jäger, H. Rolf, James, Steven L.J., James, Jonathan J., Javidan-Nejad, Cylen, Jawad, Susan, Johnson, Karl, Jones, Hefin, Jones, Brynmor P., Kapoor, Geeta, Kasthuri, Ram S., Katsanos, Konstantinos, Kavanagh, Richard G., Keeling, Aoife N., Kelly-Morland, Christian, Kenny, Lizbeth M., Kilburn-Toppin, Fleur, Kolokythas, Orpheus, Kopf, Helmut, Kremer, Stéphane, Krestan, Christian R., Kroft, Lucia J.M., Lagha, Eamon, Lalam, Radhesh, Lee, Michael J., Lomas, David J., Lovato, Luigi, MacVicar, David, Maher, Michael M., Mannelli, Lorenzo, Martin, Rachel M., Matys, Tomasz, McLaughlin, Patrick D., McNally, Eugene, Meaney, James F.M., Mehta, Amrish, Meirelles, Gustavo, Micallef, Caroline, Mistry, Alpesh, Miszkiel, Katherine, Morgan, Robert A., Mortensen, Kristian H., Moss, Jonathan G., Murray, Timothy E., Nair, Arjun, Nandra, Gurinder S., Natale, Luigi, O'Connor, Owen J., O'Connor, Philip, O'Donnell, Paul, Offiah, Amaka C., Olsen, Øystein E., Müller, Lil-Sofie Ording, O'Regan, Kevin, Owens, Catherine M., Padley, Simon P.G., Parizel, Paul M., Parkar, Nadeem, Patel, Anish, Patel, Uday, Patsch, Janina M., Pizzini, Francesca Benedetta, Plumb, Andrew, Popat, Sanjay, Power, Stephen P., Prezzi, Davide, Quail, Michael A., Rankine, James J., Ratnam, Lakshmi, Rawal, Bhavin, Reekers, Jim A., Reynolds, John H., Reznek, Rodney H., Riccabona, Michael, Rosendahl, Karen, Rottenberg, Giles, Rovira, Àlex, Rowbotham, Emma L., Russo, Vincenzo, Rutherford, Elizabeth E., Sabharwal, Tarun, Sahdev, Anju, Saifuddin, Asif, Sala, Evis, Saunders, Dawn E., Schima, Wolfgang, Scoffings, Daniel J., Screaton, Nicholas J., Sellon, Edward, Semple, Thomas R., Serrao, Eva M., Shaida, Nadeem, Shakur, Amreen, Sheikh-Bahaei, Nasim, Shepherd, Beth, Siebelink, Hans-Marc J., Silva, Mario, Singh, Jaspreet, Smith, Jan, Sundgren, Pia C., Sutherland, Tom R., Sverzellati, Nicola, Symons, Rolf, Taylor, Andrew M., Taylor, Stuart A., Thakor, Avnesh S., Thurnher, Majda M., Thust, Steffie, Toms, Andoni P., Tsakok, Maria, Tyler, Philippa, Uberoi, Raman, van den Hauwe, Luc, van Goethem, Johan W., Thielen, Thomas Van, Varghese, Sibu, Verma, Hema, Verschakelen, Johny A., Villeirs, Geert M., Vinnicombe, Sarah J., Warbey, Victoria S., Watson, Tom A., Westenberg, Jos J.M., Yadavali, Reddi Prasad, and Yamamoto, Adam Kenji
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- 2021
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20. MRI profiling of focal cortical dysplasia using multi‐compartment diffusion models.
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Lorio, Sara, Adler, Sophie, Gunny, Roxana, D'Arco, Felice, Kaden, Enrico, Wagstyl, Konrad, Jacques, Thomas S., Clark, Chris A., Cross, Judith Helen, Baldeweg, Torsten, and Carmichael, David W.
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DIFFUSION ,DYSPLASIA ,DIAGNOSTIC imaging - Abstract
Objective: Focal cortical dysplasia (FCD) lesion detection and subtyping remain challenging on conventional MRI. New diffusion models such as the spherical mean technique (SMT) and neurite orientation dispersion and density imaging (NODDI) provide measurements that potentially produce more specific maps of abnormal tissue microstructure. This study aims to assess the SMT and NODDI maps for computational and radiological lesion characterization compared to standard fractional anisotropy (FA) and mean diffusivity (MD). Methods: SMT, NODDI, FA, and MD maps were calculated for 33 pediatric patients with suspected FCD (18 histologically confirmed). Two neuroradiologists scored lesion visibility on clinical images and diffusion maps. Signal profile changes within lesions and homologous regions were quantified using a surface‐based approach. Diffusion parameter changes at multiple cortical depths were statistically compared between FCD type IIa and type IIb. Results: Compared to fluid‐attenuated inversion recovery (FLAIR) or T1‐weighted imaging, lesions conspicuity on NODDI intracellular volume fraction (ICVF) maps was better/equal/worse in 5/14/14 patients, respectively, while on SMT intra‐neurite volume fraction (INVF) in 3/3/27. Compared to FA or MD, lesion conspicuity on the ICVF was better/equal/worse in 27/4/2, while on the INVF in 20/7/6. Quantitative signal profiling demonstrated significant ICVF and INVF reductions in the lesions, whereas SMT microscopic mean, radial, and axial diffusivities were significantly increased. FCD type IIb exhibited greater changes than FCD type IIa. No changes were detected on FA or MD profiles. Significance: FCD lesion‐specific signal changes were found in ICVF and INVF but not in FA and MD maps. ICVF and INVF showed greater contrast than FLAIR in some cases and had consistent signal changes specific to FCD, suggesting that they could improve current presurgical pediatric epilepsy imaging protocols and can provide features useful for automated lesion detection. [ABSTRACT FROM AUTHOR]
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- 2020
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21. Proton magnetic resonance spectroscopy lactate/N-acetylaspartate within 2 weeks of birth accurately predicts 2-year motor, cognitive and language outcomes in neonatal encephalopathy after therapeutic hypothermia.
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Mitra, Subhabrata, Kendall, Giles S, Bainbridge, Alan, Sokolska, Magdalena, Dinan, Mary, Uria-Avellanal, Cristina, Price, David, Mckinnon, Katie, Gunny, Roxana, Huertas-Ceballos, Angela, Golay, Xavier, and Robertson, Nicola J
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Objective: Brain proton (1H) magnetic resonance spectroscopy (MRS) lactate/N-acetylaspartate (Lac/NAA) peak area ratio is used for prognostication in neonatal encephalopathy (NE). At 3 Tesla in NE babies, the objectives were to assess: (1) sensitivity and specificity of basal ganglia and thalamus (BGT) 1H MRS Lac/NAA for the prediction of Bayley III outcomes at 2 years using optimised metabolite fitting (Tarquin) with threonine and total NAA; (2) prediction of motor outcome with diffusion-weighted MRI; (3) BGT Lac/NAA correlation with the National Institute of Child Health and Human Development (NICHD) MRI score.Subjects and Methods: 55 (16 inborn, 39 outborn) infants at 39w+5 d (35w+5d-42w+0d) with NE admitted between February 2012 and August 2014 to University College London Hospitals for therapeutic hypothermia underwent MRI and 1H MRS at 3T on day 2-14 (median day 5). MRIs were scored. Bayley III was assessed at 24 (22-26) months.Results: 16 babies died (1 inborn, 15 outborn); 20, 19 and 21 babies had poor motor, cognitive and language outcomes. Using a threshold of 0.39, sensitivity and specificity of BGT Lac/NAA for 2-year motor outcome was 100% and 97%, cognition 90% and 97% and language 81% and 97%, respectively. Sensitivity and specificity for motor outcome of mean diffusivity (threshold 0.001 mm2/s) up to day 9 was 72% and 100% and fractional anisotropy (threshold 0.198) was 39% and 94%, respectively. Lac/NAA correlated with BGT injury on NICHD scores (2A, 2B, 3).Conclusion: BGT Lac/NAA on 1H MRS at 3T within 14 days accurately predicts 2-year motor, cognitive and language outcome and may be a marker directing decisions for therapies after cooling. [ABSTRACT FROM AUTHOR]- Published
- 2019
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22. Multimodal computational neocortical anatomy in pediatric hippocampal sclerosis.
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Northam, Gemma B., Adler, Sophie, Tisdall, Martin, Carmichael, David W., Cross, J. Helen, Baldeweg, Torsten, Gunny, Roxana, Blackwood, Mallory, Hong, Seok‐Jun, Bernasconi, Andrea, Bernasconi, Neda, Bernhardt, Boris C., and Jacques, Thomas
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PEDIATRICS ,PEOPLE with epilepsy ,HIPPOCAMPUS diseases ,TEMPORAL lobe epilepsy ,MAGNETIC resonance imaging - Abstract
Objective: In contrast to adult cohorts, neocortical changes in epileptic children with hippocampal damage are not well characterized. Here, we mapped multimodal neocortical markers of epilepsy‐related structural compromise in a pediatric cohort of temporal lobe epilepsy and explored how they relate to clinical factors. Methods: We measured cortical thickness, gray–white matter intensity contrast and intracortical FLAIR intensity in 22 patients with hippocampal sclerosis (HS) and 30 controls. Surface‐based linear models assessed between‐group differences in morphological and MR signal intensity markers. Structural integrity of the hippocampus was measured by quantifying atrophy and FLAIR patterns. Linear models were used to evaluate the relationships between hippocampal and neocortical MRI markers and clinical factors. Results: In the hippocampus, patients demonstrated ipsilateral atrophy and bilateral FLAIR hyperintensity. In the neocortex, patients showed FLAIR signal hyperintensities and gray–white matter boundary blurring in the ipsilesional mesial and lateral temporal neocortex. In contrast, cortical thinning was minimal and restricted to a small area of the ipsilesional temporal pole. Furthermore, patients with a history of febrile convulsions demonstrated more pronounced FLAIR hyperintensity in the ipsilesional temporal neocortex. Interpretation: Pediatric HS patients do not yet demonstrate the widespread cortical thinning present in adult cohorts, which may reflect consequences of a protracted disease process. However, pronounced temporal neocortical FLAIR hyperintensity and blurring of the gray–white matter boundary are already detectable, suggesting that alterations in MR signal intensities may reflect a different underlying pathophysiology that is detectable earlier in the disease and more pervasive in patients with a history of febrile convulsions. [ABSTRACT FROM AUTHOR]
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- 2018
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23. Chapter 82 - Paediatric Neuroradiology
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Argyropoulou, Maria I., Rossi, Andrea, Gunny, Roxana S., and Chong, W.K. ‘Kling’
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- 2014
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24. Juvenile nasopharyngeal angiofibroma involving the cavernous sinus: Does surgery have a role?
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Singh, Arvind, Gunny, Roxana, Dunaway, David, and Hartley, Ben
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- 2008
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25. List of Contributors
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Adam, Andreas, Adam, E. Jane, Adams, Judith E., Agosto, Omar, Alobeidi, Farah, Alonzi, Roberto, Andi, Allan C., Argyropoulou, Maria I., Arthurs, Owen, Ascher, Susan M., Avril, Norbert, Aziz, Zelena A., Balériaux, Danielle, Barentsz, Jelle O., Barkhof, Frederik, Barter, Sue J., Beale, Timothy, Bearcroft, Philip W.P., Beigelman-Aubry, Catherine, Belli, Anna-Maria, Berman, Lol, Bhalla, Sanjeev, Bhattacharya, Joti Jonathan, Bogaert, Jan, Bomers, Joyce G.R., Bowden, David J., Breen, David J., Brown, Jackie, Campbell, Robert S.D., Caroline, Dina F., Chateil, Jean-François, Chong, W.K. ‘Kling’, Chun, Joo-Young, Cohan, Richard H., Copley, Susan J., Cosgrove, David O., Cowan, Nigel C., Daghir, Ahmed, Daskalogiannaki, Maria, Dass, Chandra, Davangnanam, Indran, Davies, A. Mark, de Roos, Albert, De Schepper, Arthur M., Sr., Desai, Sujal R., Dixon, Adrian K., Donoghue, Veronica, Dunn, Andrew J., Easty, Marina, Eckersley, Robert J., El-Diasty, Tarek, Abou El-Ghar, Mohamed, Engelke, Christoph, Evans, Andrew J., Fattori, Rossella, Forbes, Kirsten, Franquet, Tomás, Freeman, Alan H., Freeman, Susan, Frühwald-Pallamar, Julia, Gallagher, Ferdia, Gallucci, Massimo, Ganai, Bhaskar, Garcia-Peña, Pilar, Geleijns, Jacob, Gibson, Robert N., Gillard, Jonathan H., Gleeson, Fergus, Godfrey, Edmund M., Goh, Vicky, Gomez Anson, Beatriz, Gourtsoyiannis, Nicholas, Grainger, Andrew J., Granata, Claudio, Graves, Martin J., Grenier, Philippe A., Gunny, Roxana S., Hammond, Christopher J., Hansell, David M., Hartmann, Ieneke J.C., Harvey, Christopher J., Hopper, Melanie A., Hoskin, Peter, Hricak, Hedvig, Hughes, Philip M., Humphries, Paul, Hutton, Brian F., Jackson, James E., Jäger, H. Rolf, James, Jonathan J., James, Steven L.J., Javidan-Nejad, Cylen, Johnson, Karl, Jones, Brynmor P., Jones, Hefin, Kabra, Ruchi, Katsanos, Konstantinos, Bittencourt, Leonardo Kayat, Keeling, Aoife, Kilburn-Toppin, Fleur, Kroft, Lucia J.M., Lazoura, Olga, Lee, Michael J., Lim, Adrian, Link, Thomas M., Lomas, David J., Lovato, Luigi, McLaughlin, Patrick, McNally, Eugene, MacVicar, David, Maher, Michael, Mannelli, Lorenzo, Marten-Engelke, Katharina, Matys, Tomasz, Meaney, James F.M., Meduri, Agostino, Mehta, Amrish, Micallef, Caroline, Miles, Kenneth A., Miller, Lisa A., Mirvis, Stuart E., Miszkiel, Katherine, Morgan, Robert A., Morrison, Iain D., Morse, Richard J., Moss, Jonathan G., Nair, Arjun, Natale, Luigi, Nicholson, Anthony A., O'Connor, Owen J., O'Connor, Philip, O'Donnell, Paul, Offiah, Amaka C., Olsen, Øystein E., Ording, Lil-Sofie, Owens, Catherine M., Padley, Simon P.G., Parizel, Paul M., Parkar, Nadeem, Patel, Uday, Paterson, Anne, Plumb, Andrew, Prassopoulos, Panos, Prokop, Mathias, Quail, Michael A., Raby, Nigel, Rajashanker, Balashanmugam, Rankine, James J., Ratnam, Lakshmi, Reekers, Jim A., Reimer, Peter, Reynolds, John H., Reznek, Rodney H., Riccabona, Michael, Ricketts, James, Rosendahl, Karen, Rossi, Andrea, Rottenberg, Giles, Rout, John, Rovira, Alex, Rutherford, Elizabeth, Sabarwal, Tarun, Sahdev, Anju, Saifuddin, Asif, Sala, Evis, Schaefer-Prokop, Cornelia M., Schima, Wolfgang, Scoffings, Daniel J., Segerman, Djilda, Serrao, Eva, Shaida, Nadeem, Shaw, Ashley S., Stevens, John M., Sheikh-Bahaei, Nasim, Shepherd, Beth, Siebelink, Hans-Marc J., Sundgren, Pia C., Sutherland, Tom, Sverzellati, Nicola, Tack, Denis, Taylor, Andrew M., Taylor, Stuart A., Thakor, Avnesh S., Thomsen, Henrik S., Thurnher, Majda M., Thust, Stefanie C., van den Hauwe, Luc, van Goethem, Johan W., Van Thielen, Thomas, Verschakelen, Johny A., Villeirs, Geert M., Viney, Zaid, Vinnicombe, Sarah J., Watkinson, Anthony, Watson, Tom A., Westenberg, Jos J.M., Whitehouse, Richard W., Wilkinson, Iain D., Wilson, A. Robin M., Yadavali, Reddi Prasad, Young, Carolyn, and Zampakis, Peter
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- 2014
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26. HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
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Ferdinandusse, Sacha, Waterham, Hans R., Heales, Simon J. R., Brown, Garry K., Hargreaves, Iain P., Taanman, Jan-Willem, Gunny, Roxana, Abulhoul, Lara, Wanders, Ronald J. A., Clayton, Peter T., Leonard, James V., and Rahman, Shamima
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LEIGH disease ,PYRUVATE dehydrogenase complex ,3-Hydroxybutyric acid ,MITOCHONDRIAL DNA ,IRON-sulfur compounds ,LIPOIC acid ,GENETIC mutation ,MITOCHONDRIAL pathology ,ESTERASES ,OXIDOREDUCTASES - Abstract
Background: Deficiency of 3-hydroxy-isobutyryl-CoA hydrolase (HIBCH) caused by HIBCH mutations is a rare cerebral organic aciduria caused by disturbance of valine catabolism. Multiple mitochondrial respiratory chain (RC) enzyme deficiencies can arise from a number of mechanisms, including defective maintenance or expression of mitochondrial DNA. Impaired biosynthesis of iron-sulphur clusters and lipoic acid can lead to pyruvate dehydrogenase complex (PDHc) deficiency in addition to multiple RC deficiencies, known as the multiple mitochondrial dysfunctions syndrome.Methods: Two brothers born to distantly related Pakistani parents presenting in early infancy with a progressive neurodegenerative disorder, associated with basal ganglia changes on brain magnetic resonance imaging, were investigated for suspected Leigh-like mitochondrial disease. The index case had deficiencies of multiple RC enzymes and PDHc in skeletal muscle and fibroblasts respectively, but these were normal in his younger brother. The observation of persistently elevated hydroxy-C4-carnitine levels in the younger brother led to suspicion of HIBCH deficiency, which was investigated by biochemical assay in cultured skin fibroblasts and molecular genetic analysis.Results: Specific spectrophotometric enzyme assay revealed HIBCH activity to be below detectable limits in cultured skin fibroblasts from both brothers. Direct Sanger sequence analysis demonstrated a novel homozygous pathogenic missense mutation c.950G Conclusions: HIBCH deficiency, a disorder of valine catabolism, is a novel cause of the multiple mitochondrial dysfunctions syndrome, and should be considered in the differential diagnosis of patients presenting with multiple RC deficiencies and/or pyruvate dehydrogenase deficiency. [ABSTRACT FROM AUTHOR]- Published
- 2013
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27. Paediatric acquired demyelinating syndromes: incidence, clinical and magnetic resonance imaging features.
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Absoud, Michael, Lim, Ming J, Chong, Wui K, De Goede, Christian G, Foster, Katharine, Gunny, Roxana, Hemingway, Cheryl, Jardine, Philip E, Kneen, Rachel, Likeman, Marcus, Nischal, Ken K, Pike, Michael G, Sibtain, Naomi A, Whitehouse, William P, Cummins, Carole, and Wassmer, Evangeline
- Subjects
MULTIPLE sclerosis in children ,EPIDEMIOLOGY ,NERVOUS system ,ENCEPHALOMYELITIS - Abstract
The article offers information on a research conducted to analyze the epidemiology of multiple sclerosis in childhood population in British Isles. It is mentioned that the study informs on the changes in the childhood nervous system in children with acquired demyelinating syndromes (ADSs). Also, for the study, pediatricians, and ophthalmologists were given a questionnaire on questions related to acute disseminated encephalomyelitis, clinically isolated syndrome, and neuromyelitis optica.
- Published
- 2013
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28. Sensory function in severe semilobar holoprosencephaly.
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Liasis, Alki, Hildebrand, Darius, Clark, Chris, Katz, Ximena, Gunny, Roxana, Stieltjes, Bram, and Taylor, David
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HOLOPROSENCEPHALY ,JUVENILE diseases ,MAGNETIC resonance imaging ,SOMATOSENSORY evoked potentials ,ELECTROPHYSIOLOGY - Abstract
We report a 4-year-old child with severe semi-lobar holoprosencephaly (HPE) not expected to survive after birth. Magnetic resonance imaging (MRI) revealed agenesis of the corpus callosum, absence of the third ventricle, fused thalami and basal ganglia. To investigate sensory function, visual, auditory and somatosensory evoked potential and imaging studies were carried out. The visual response evoked by human face stimuli evoked larger responses over the left side of the holosphere as compared to responses evoked by checkerboard pattern, while auditory evoked potentials were evident over the frontal regions to both pure tones and speech stimuli. No consistent scalp somatosensory evoked potentials were evident. This case demonstrates that electrophysiological measures are able to identify and quantify sensory processing not expected to be present based on the anatomical presentation of the cortex in a child with severe HPE. [ABSTRACT FROM AUTHOR]
- Published
- 2009
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29. Imaging anatomy of the vestibular and visual systems.
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Gunny R, Yousry TA, Gunny, Roxana, and Yousry, Tarek A
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- 2007
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30. Radiology service at Great Ormond Street Hospital
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Chong, Kling, Barnacle, Alex, Biassoni, Lorenzo, Calder, Alistair, Chippington, Samantha, Easty, Marina, Gunny, Roxana, Hiorns, Melanie, McHugh, Kieran, Persaud, Thara, Roebuck, Derek, and Saunders, Dawn
- Published
- 2011
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31. Post-mortem MRI versus conventional autopsy in fetuses and children: a prospective validation study.
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Thayyil, Sudhin, Sebire, Neil J., Chitty, Lyn S., Wade, Angle, Chang, W. K., Olsen, Oystein, Gunny, Roxana S., Offiah, Amaka C., Owens, Catherine M., Saunders, Dawn E., Scott, Rosemary J., Jones, Rod, Norman, Wendy, Addison, Shea, Bainbridge, Alan, Cady, Ernest B., De Vita, Enrico, Robertson, Nicola J., and Taylor, Andrew M.
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- *
AUTOPSY , *MAGNETIC resonance imaging , *PREGNANCY , *DEATH , *PATHOLOGISTS , *RADIOLOGISTS - Abstract
Background Post-mortem MRI is a potential diagnostic alternative to conventional autopsy, but few large prospective studies have compared its accuracy with that of conventional autopsy. We assessed the accuracy of whole-body, post-mortem MRI for detection of major pathological lesions associated with death in a prospective cohort of fetuses and children. Methods In this prospective validation study, we did pre-autopsy, post-mortem, wholebody MRI at 1.5 T in an unselected population of fetuses (-<24 weeks' or >24 weeks' gestation) and children (aged <16 years) at two UK centres in London between March 1, 2007 and Sept 30, 2011. With conventional autopsy as the diagnostic gold standard, we assessed MRI findings alone, or in conjunction with other minimally invasive post-mortem investigations (minimally invasive autopsy), for accuracy in detection of cause of death or major pathological abnormalities. A radiologist and pathologist who were masked to the autopsy findings indicated whether the minimally invasive autopsy would have been adequate. The primary outcome was concordance rate between minimally invasive and conventional autopsy. Findings We analysed 400 cases, of which 277 (69%) were fetuses and 123 (31%) were children. Cause of death or major pathological lesion detected by minimally invasive autopsy was concordant with conventional autopsy in 357 (89.3%, 95% CI 85.8-91.9) cases: 175 (94.6%, 90.3-97- 0) of 185 fetuses at 24 weeks' gestation or less, 88 (95.7%, 89.3-98.3) of 92 fetuses at more than 24 weeks' gestation, 34 (81.0%, 67.7-90.0) of 42 newborns aged 1 month or younger, 45 (84.9%, 72.9-92.1) of 53 infants aged older than 1 month to 1 year or younger, and 15 (53.6%, 35.8-70.5) of 28 children aged older than 1 year to 16 years or younger. The dedicated radiologist or pathologist review of the minimally invasive autopsy showed that in 165 (41%) cases a full autopsy might not have been needed; in these cases, concordance between autopsy and minimally invasive autopsy was 99.4% (96- 6-99.9). Interpretation Minimally invasive autopsy has accuracy similar to that of conventional autopsy for detection of cause of death or major pathological abnormality after death in fetuses, newborns, and infants, but was less accurate in older children. If undertaken jointly by pathologists and radiologists, minimally invasive autopsy could be an acceptable alternative to conventional autopsy in selected cases. Funding Policy research Programme, Department of Health, UK. [ABSTRACT FROM AUTHOR]
- Published
- 2013
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32. Multimodal computational neocortical anatomy in pediatric hippocampal sclerosis.
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Adler S, Blackwood M, Northam GB, Gunny R, Hong SJ, Bernhardt BC, Bernasconi A, Bernasconi N, Jacques T, Tisdall M, Carmichael DW, Cross JH, and Baldeweg T
- Abstract
Objective: In contrast to adult cohorts, neocortical changes in epileptic children with hippocampal damage are not well characterized. Here, we mapped multimodal neocortical markers of epilepsy-related structural compromise in a pediatric cohort of temporal lobe epilepsy and explored how they relate to clinical factors., Methods: We measured cortical thickness, gray-white matter intensity contrast and intracortical FLAIR intensity in 22 patients with hippocampal sclerosis (HS) and 30 controls. Surface-based linear models assessed between-group differences in morphological and MR signal intensity markers. Structural integrity of the hippocampus was measured by quantifying atrophy and FLAIR patterns. Linear models were used to evaluate the relationships between hippocampal and neocortical MRI markers and clinical factors., Results: In the hippocampus, patients demonstrated ipsilateral atrophy and bilateral FLAIR hyperintensity. In the neocortex, patients showed FLAIR signal hyperintensities and gray-white matter boundary blurring in the ipsilesional mesial and lateral temporal neocortex. In contrast, cortical thinning was minimal and restricted to a small area of the ipsilesional temporal pole. Furthermore, patients with a history of febrile convulsions demonstrated more pronounced FLAIR hyperintensity in the ipsilesional temporal neocortex., Interpretation: Pediatric HS patients do not yet demonstrate the widespread cortical thinning present in adult cohorts, which may reflect consequences of a protracted disease process. However, pronounced temporal neocortical FLAIR hyperintensity and blurring of the gray-white matter boundary are already detectable, suggesting that alterations in MR signal intensities may reflect a different underlying pathophysiology that is detectable earlier in the disease and more pervasive in patients with a history of febrile convulsions.
- Published
- 2018
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33. Towards in vivo focal cortical dysplasia phenotyping using quantitative MRI.
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Adler S, Lorio S, Jacques TS, Benova B, Gunny R, Cross JH, Baldeweg T, and Carmichael DW
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- Humans, Magnetic Resonance Imaging methods, Malformations of Cortical Development pathology, Magnetic Resonance Imaging statistics & numerical data, Malformations of Cortical Development diagnostic imaging, Malformations of Cortical Development genetics, Phenotype
- Abstract
Focal cortical dysplasias (FCDs) are a range of malformations of cortical development each with specific histopathological features. Conventional radiological assessment of standard structural MRI is useful for the localization of lesions but is unable to accurately predict the histopathological features. Quantitative MRI offers the possibility to probe tissue biophysical properties in vivo and may bridge the gap between radiological assessment and ex-vivo histology. This review will cover histological, genetic and radiological features of FCD following the ILAE classification and will explain how quantitative voxel- and surface-based techniques can characterise these features. We will provide an overview of the quantitative MRI measures available, their link with biophysical properties and finally the potential application of quantitative MRI to the problem of FCD subtyping. Future research linking quantitative MRI to FCD histological properties should improve clinical protocols, allow better characterisation of lesions in vivo and tailored surgical planning to the individual.
- Published
- 2017
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34. Novel surface features for automated detection of focal cortical dysplasias in paediatric epilepsy.
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Adler S, Wagstyl K, Gunny R, Ronan L, Carmichael D, Cross JH, Fletcher PC, and Baldeweg T
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- Adolescent, Area Under Curve, Child, Child, Preschool, Epilepsy diagnostic imaging, Epilepsy etiology, Female, Humans, Imaging, Three-Dimensional, Machine Learning, Magnetic Resonance Imaging, Male, Oxygen blood, Brain Mapping, Cerebral Cortex diagnostic imaging, Epilepsy complications, Malformations of Cortical Development, Group I diagnostic imaging, Malformations of Cortical Development, Group I etiology
- Abstract
Focal cortical dysplasia is a congenital abnormality of cortical development and the leading cause of surgically remediable drug-resistant epilepsy in children. Post-surgical outcome is improved by presurgical lesion detection on structural MRI. Automated computational techniques have improved detection of focal cortical dysplasias in adults but have not yet been effective when applied to developing brains. There is therefore a need to develop reliable and sensitive methods to address the particular challenges of a paediatric cohort. We developed a classifier using surface-based features to identify focal abnormalities of cortical development in a paediatric cohort. In addition to established measures, such as cortical thickness, grey-white matter blurring, FLAIR signal intensity, sulcal depth and curvature, our novel features included complementary metrics of surface morphology such as local cortical deformation as well as post-processing methods such as the "doughnut" method - which quantifies local variability in cortical morphometry/MRI signal intensity, and per-vertex interhemispheric asymmetry. A neural network classifier was trained using data from 22 patients with focal epilepsy (mean age = 12.1 ± 3.9, 9 females), after intra- and inter-subject normalisation using a population of 28 healthy controls (mean age = 14.6 ± 3.1, 11 females). Leave-one-out cross-validation was used to quantify classifier sensitivity using established features and the combination of established and novel features. Focal cortical dysplasias in our paediatric cohort were correctly identified with a higher sensitivity (73%) when novel features, based on our approach for detecting local cortical changes, were included, when compared to the sensitivity using only established features (59%). These methods may be applicable to aiding identification of subtle lesions in medication-resistant paediatric epilepsy as well as to the structural analysis of both healthy and abnormal cortical development.
- Published
- 2016
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35. Paediatric cerebrovascular CT angiography-towards better image quality.
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Thust SC, Chong WK, Gunny R, Mazumder A, Poitelea M, Welsh A, Ederies A, and Mankad K
- Abstract
Background: Paediatric cerebrovascular CT angiography (CTA) can be challenging to perform due to variable cardiovascular physiology between different age groups and the risk of movement artefact. This analysis aimed to determine what proportion of CTA at our institution was of diagnostic quality and identify technical factors which could be improved., Materials and Methods: a retrospective analysis of 20 cases was performed at a national paediatric neurovascular centre assessing image quality with a subjective scoring system and Hounsfield Unit (HU) measurements. Demographic data, contrast dose, flow rate and triggering times were recorded for each patient., Results: Using a qualitative scoring system, 75% of studies were found to be of diagnostic quality (n=9 'good', n=6 'satisfactory') and 25% (n=5) were 'poor'. Those judged subjectively to be poor had arterial contrast density measured at less than 250 HU. Increased arterial opacification was achieved for cases performed with an increased flow rate (2.5-4 mL/s) and higher intravenous contrast dose (2 mL/kg). Triggering was found to be well timed in nine cases, early in four cases and late in seven cases. Of the scans triggered early, 75% were poor. Of the scans triggered late, less (29%) were poor., Conclusions: High flow rates (>2.5 mL/s) were a key factor for achieving high quality paediatric cerebrovascular CTA imaging. However, appropriate triggering by starting the scan immediately on contrast opacification of the monitoring vessel plays an important role and could maintain image quality when flow rates were lower. Early triggering appeared more detrimental than late.
- Published
- 2014
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36. Paediatric acquired demyelinating syndromes: incidence, clinical and magnetic resonance imaging features.
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Absoud M, Lim MJ, Chong WK, De Goede CG, Foster K, Gunny R, Hemingway C, Jardine PE, Kneen R, Likeman M, Nischal KK, Pike MG, Sibtain NA, Whitehouse WP, Cummins C, and Wassmer E
- Subjects
- Adolescent, Child, Child, Preschool, Female, Humans, Incidence, Infant, Male, Demyelinating Autoimmune Diseases, CNS epidemiology, Demyelinating Autoimmune Diseases, CNS pathology
- Abstract
Objective: Changing trends in multiple sclerosis (MS) epidemiology may first be apparent in the childhood population affected with first onset acquired demyelinating syndromes (ADSs). We aimed to determine the incidence, clinical, investigative and magnetic resonance imaging (MRI) features of childhood central nervous system ADSs in the British Isles for the first time., Methods: We conducted a population active surveillance study. All paediatricians, and ophthalmologists (n = 4095) were sent monthly reporting cards (September 2009-September 2010). International Paediatric MS Study Group 2007 definitions and McDonald 2010 MS imaging criteria were used for acute disseminated encephalomyelitis (ADEM), clinically isolated syndrome (CIS) and neuromyelitis optica (NMO). Clinicians completed a standard questionnaire and provided an MRI copy for review., Results: Card return rates were 90%, with information available for 200/222 positive notifications (90%). After exclusion of cases, 125 remained (age range 1.3-15.9), with CIS in 66.4%, ADEM in 32.0% and NMO in 1.6%. The female-to-male ratio in children older than 10 years (n = 63) was 1.52:1 (p = 0.045). The incidence of first onset ADS in children aged 1-15 years old was 9.83 per million children per year (95% confidence interval [CI] 8.18-11.71). A trend towards higher incidence rates of ADS in children of South Asian and Black ethnicity was observed compared with White children. Importantly, a number of MRI characteristics distinguished ADEM from CIS cases. Of CIS cases with contrast imaging, 26% fulfilled McDonald 2010 MS diagnostic criteria., Conclusions: We report the highest surveillance incidence rates of childhood ADS. Paediatric MS diagnosis at first ADS presentation has implications for clinical practice and clinical trial design.
- Published
- 2013
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37. Incidence of cavernoma development in children after radiotherapy for brain tumors.
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Burn S, Gunny R, Phipps K, Gaze M, and Hayward R
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- Brain Neoplasms diagnosis, Brain Neoplasms epidemiology, Child, Child, Preschool, Cohort Studies, Female, Hemangioma, Cavernous diagnosis, Humans, Incidence, Magnetic Resonance Imaging, Male, Prevalence, Time Factors, Brain Neoplasms etiology, Brain Neoplasms radiotherapy, Hemangioma, Cavernous epidemiology, Hemangioma, Cavernous etiology, Radiation Injuries complications
- Abstract
Object: Cavernous hemangiomas (cavernomas) are benign vascular malformations that may cause seizures and/or hemorrhage when they develop in the brain. The incidence of cavernoma development after brain radiotherapy is unknown. The aim of this study was to assess the prevalence of cavernoma formation in patients who had previously received radiotherapy for brain tumors during childhood., Methods: All patients were identified who were younger than 16 years of age and had undergone radiotherapy for brain tumors within a 16-year period (January 1, 1988-December 31, 2003). The patient data that were ascertained included age at diagnosis, sex, histopathology results, initial preoperative magnetic resonance (MR) imaging results, date of radiotherapy, and date of detection of cavernoma. Children who were followed up for less than 1 month after radiotherapy or who died during treatment were excluded, as were children with brainstem tumors. All patients had undergone diagnostic MR imaging before receiving radiotherapy, and no vascular malformations were revealed. Of the 379 patients identified, 297 satisfied the inclusion criteria. Ten patients (3.4%) developed cavernomas after radiation therapy. The ages of these patients ranged from 2 to 11 years at the time of radiotherapy (median 7 years), and the latency interval between radiotherapy and cavernoma development was 3 to 102 months (median 37 months)., Conclusions: The prevalence of cavernomas in the present study was more than six times greater than the prevalence rate cited in the literature for this population. The authors conclude that there is an increased risk of developing an intracranial cavernoma after radiotherapy for brain tumors. The possibility of this complication arising should be mentioned when informed consent is sought before treatment using radiotherapy.
- Published
- 2007
- Full Text
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