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669 results on '"D'Arco, Felice"'

102. HGG-32. Durable response to mTOR inhibitor after failing Checkpoint inhibitors in Ultra-Hypermutated High grade glioma in context of CMMRD

Author

Hegde, Kriti, primary, Dahl, Christine, additional, Depani, Sarita, additional, Hargrave, Darren, additional, Oostveen, Minou, additional, Aguirregomezcorta, Fernando, additional, Jeelani, Owase, additional, Aquilina, Kristian, additional, Gains, Jenny, additional, Ching, Yen, additional, Jacues, Thomas, additional, Merve, Ashirwad, additional, Chalker, Jane, additional, Addy, Dilys, additional, Ahmed, Saira W, additional, Yasin, Shireen, additional, Mankad, Kshitij, additional, Carney, Olivia, additional, Sudhakar, Sniya, additional, D'Arco, Felice, additional, Loebel, Ulrike, additional, and Jorgensen, Mette, additional

Published
2022
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103. LGG-37. Long-term Outcome, Visual Morbidity and Prognostic Factors in Infants and Young Children with Optic Pathway Glioma from the Great Ormond Street Hospital (GOSH) LGG - Cohort

Author

Picariello, Stefania, primary, Walters, Brownen, additional, Bowman, Richard, additional, Slater, Olga, additional, Jorgensen, Mette, additional, Dahl, Christine, additional, O'Hare, Patricia, additional, Spoudeas, Helen A, additional, Gan, Hong-Wei, additional, Aquilina, Kristian, additional, Chang, Yen Ch'in, additional, D'Arco, Felice, additional, Hargrave, Darren, additional, and Opocher, Enrico, additional

Published
2022
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105. Interpretable surface-based detection of focal cortical dysplasias:a Multi-centre Epilepsy Lesion Detection study

Author

Spitzer, Hannah, Ripart, Mathilde, Whitaker, Kirstie, D’Arco, Felice, Mankad, Kshitij, Chen, Andrew A., Napolitano, Antonio, De Palma, Luca, De Benedictis, Alessandro, Foldes, Stephen, Humphreys, Zachary, Zhang, Kai, Hu, Wenhan, Mo, Jiajie, Likeman, Marcus, Davies, Shirin, Güttler, Christopher, Lenge, Matteo, Cohen, Nathan T., Tang, Yingying, Wang, Shan, Chari, Aswin, Tisdall, Martin, Bargallo, Nuria, Conde-Blanco, Estefanía, Pariente, Jose Carlos, Pascual-Diaz, Saül, Delgado-Martínez, Ignacio, Pérez-Enríquez, Carmen, Lagorio, Ilaria, Abela, Eugenio, Mullatti, Nandini, O’Muircheartaigh, Jonathan, Vecchiato, Katy, Liu, Yawu, Caligiuri, Maria Eugenia, Sinclair, Ben, Vivash, Lucy, Willard, Anna, Kandasamy, Jothy, McLellan, Ailsa, Sokol, Drahoslav, Semmelroch, Mira, Kloster, Ane G., Opheim, Giske, Ribeiro, Letícia, Yasuda, Clarissa, Rossi-Espagnet, Camilla, Hamandi, Khalid, Tietze, Anna, Barba, Carmen, Guerrini, Renzo, Gaillard, William Davis, You, Xiaozhen, Wang, Irene, González-Ortiz, Sofía, Severino, Mariasavina, Striano, Pasquale, Tortora, Domenico, Kälviäinen, Reetta, Gambardella, Antonio, Labate, Angelo, Desmond, Patricia, Lui, Elaine, O’Brien, Terence, Shetty, Jay, Jackson, Graeme, Duncan, John S., Winston, Gavin P., Pinborg, Lars H., Cendes, Fernando, Theis, Fabian J., Shinohara, Russell T., Cross, J. Helen, Baldeweg, Torsten, Adler, Sophie, Wagstyl, Konrad, Spitzer, Hannah, Ripart, Mathilde, Whitaker, Kirstie, D’Arco, Felice, Mankad, Kshitij, Chen, Andrew A., Napolitano, Antonio, De Palma, Luca, De Benedictis, Alessandro, Foldes, Stephen, Humphreys, Zachary, Zhang, Kai, Hu, Wenhan, Mo, Jiajie, Likeman, Marcus, Davies, Shirin, Güttler, Christopher, Lenge, Matteo, Cohen, Nathan T., Tang, Yingying, Wang, Shan, Chari, Aswin, Tisdall, Martin, Bargallo, Nuria, Conde-Blanco, Estefanía, Pariente, Jose Carlos, Pascual-Diaz, Saül, Delgado-Martínez, Ignacio, Pérez-Enríquez, Carmen, Lagorio, Ilaria, Abela, Eugenio, Mullatti, Nandini, O’Muircheartaigh, Jonathan, Vecchiato, Katy, Liu, Yawu, Caligiuri, Maria Eugenia, Sinclair, Ben, Vivash, Lucy, Willard, Anna, Kandasamy, Jothy, McLellan, Ailsa, Sokol, Drahoslav, Semmelroch, Mira, Kloster, Ane G., Opheim, Giske, Ribeiro, Letícia, Yasuda, Clarissa, Rossi-Espagnet, Camilla, Hamandi, Khalid, Tietze, Anna, Barba, Carmen, Guerrini, Renzo, Gaillard, William Davis, You, Xiaozhen, Wang, Irene, González-Ortiz, Sofía, Severino, Mariasavina, Striano, Pasquale, Tortora, Domenico, Kälviäinen, Reetta, Gambardella, Antonio, Labate, Angelo, Desmond, Patricia, Lui, Elaine, O’Brien, Terence, Shetty, Jay, Jackson, Graeme, Duncan, John S., Winston, Gavin P., Pinborg, Lars H., Cendes, Fernando, Theis, Fabian J., Shinohara, Russell T., Cross, J. Helen, Baldeweg, Torsten, Adler, Sophie, and Wagstyl, Konrad

Abstract

One outstanding challenge for machine learning in diagnostic biomedical imaging is algorithm interpretability. A key application is the identification of subtle epileptogenic focal cortical dysplasias (FCDs) from structural MRI. FCDs are difficult to visualize on structural MRI but are often amenable to surgical resection. We aimed to develop an open-source, interpretable, surface-based machine-learning algorithm to automatically identify FCDs on heterogeneous structural MRI data from epilepsy surgery centres worldwide. The Multi-centre Epilepsy Lesion Detection (MELD) Project collated and harmonized a retrospective MRI cohort of 1015 participants, 618 patients with focal FCD-related epilepsy and 397 controls, from 22 epilepsy centres worldwide. We created a neural network for FCD detection based on 33 surface-based features. The network was trained and cross-validated on 50% of the total cohort and tested on the remaining 50% as well as on 2 independent test sites. Multidimensional feature analysis and integrated gradient saliencies were used to interrogate network performance. Our pipeline outputs individual patient reports, which identify the location of predicted lesions, alongside their imaging features and relative saliency to the classifier. On a restricted ‘gold-standard’ subcohort of seizure-free patients with FCD type IIB who had T1 and fluid-attenuated inversion recovery MRI data, the MELD FCD surface-based algorithm had a sensitivity of 85%. Across the entire withheld test cohort the sensitivity was 59% and specificity was 54%. After including a border zone around lesions, to account for uncertainty around the borders of manually delineated lesion masks, the sensitivity was 67%. This multicentre, multinational study with open access protocols and code has developed a robust and interpretable machine-learning algorithm for automated detection of focal cortical dysplasias, giving physicians greater confidence in the identification of subtle M

Published
2022

107. European recommendations on practices in pediatric neuroradiology: consensus document from the European Society of Neuroradiology (ESNR), European Society of Paediatric Radiology (ESPR) and European Union of Medical Specialists Division of Neuroradiology (UEMS)

Author

Rossi, Andrea, Argyropoulou, Maria, Zlatareva, Dora, Boulouis, Gregoire, Pizzini, Francesca B., van den Hauwe, Luc, Raissaki, Maria, Pruvo, Jean-Pierre, Rosendahl, Karen, Hoffmann, Chen, Sundgren, Pia C., Mankad, Kshitij, Severino, Mariasavina, Adamsbaum, Catherine, Altmann-Schneider, Irmhild, Chateil, Jean-François, Connolly, Daniel J., Dangouloff-Ros, Volodia, D’Arco, Felice, Donoghue, Veronica, Girard, Nadine, Krystal, Sidney, Lequin, Maarten Hans, Narayana, Dhananjaya, Porto, Luciana, Vasquez, Elida, Xydis, Vasileios, ESNR Pediatric Neuroradiology Subspecialty Committee, and ESPR Neuroradiology Taskforce

Subjects
Computer. Automation, Pediatrics, Perinatology and Child Health, Radiology, Nuclear Medicine and imaging, Human medicine
Abstract

Pediatric neuroradiology is a subspecialty within radiology, with possible pathways to train within the discipline from neuroradiology or pediatric radiology. Formalized pediatric neuroradiology training programs are not available in most European countries. We aimed to construct a European consensus document providing recommendations for the safe practice of pediatric neuroradiology. We particularly emphasize imaging techniques that should be available, optimal site conditions and facilities, recommended team requirements and specific indications and protocol modifications for each imaging modality employed for pediatric neuroradiology studies. The present document serves as guidance to the optimal setup and organization for carrying out pediatric neuroradiology diagnostic and interventional procedures. Clinical activities should always be carried out in full agreement with national provisions and regulations. Continued education of all parties involved is a requisite for preserving pediatric neuroradiology practice at a high level.

Published
2022

109. Radiologic diagnosis of non-traumatic paediatric head and neck emergencies.

Author

D'Arco, Felice, Lee, Philippa, Siddiqui, Ata, Nash, Robert, and Ugga, Lorenzo

Subjects
HEAD & neck cancer, PEDIATRIC radiology, DIAGNOSTIC imaging, COMPUTED tomography, MAGNETIC resonance imaging
Abstract

Imaging plays a crucial role in evaluating paediatric patients with non-traumatic head and neck lesions in an emergency setting because clinical manifestations of these entities can overlap. For this reason, radiologists must be familiar with the clinical and imaging findings of prevalent paediatric head and neck emergencies. In this review, we present techniques and imaging clues for common complications of pathological processes in the paediatric head and neck, with a focus on the clinical scenario as a starting point for the radiologic approach. [ABSTRACT FROM AUTHOR]

Published
2023
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110. A nationwide evaluation of bevacizumab-based treatments in pediatric low-grade glioma in the UK: Safety, efficacy, visual morbidity, and outcomes.

Author

Green, Katherine, Panagopoulou, Paraskevi, D'Arco, Felice, O'Hare, Patricia, Bowman, Richard, Walters, Bronwen, Dahl, Christine, Jorgensen, Mette, Patel, Pritesh, Slater, Olga, Ahmed, Rehana, Bailey, Simon, Carceller, Fernando, Collins, Rhiannon, Corley, Elizabeth, English, Martin, Howells, Lisa, Kamal, Ahmed, Kilday, John-Paul (JP), and Lowis, Stephen

Published
2023
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116. Whole spine MRI is not required in investigating uncomplicated paediatric lumbosacral lipoma. A retrospective single-institution review

Author

Layard Horsfall, Hugo, Chari, Aswin, Huttunen, Terhi, Simcock, Clare, D'Arco, Felice, Thompson, Dominic, Chari, Aswin [0000-0003-0053-147X], and Apollo - University of Cambridge Repository

Subjects
Male, Spinal Neoplasms, Lumbosacral Region, Infant, Spinal dysraphism, Magnetic Resonance Imaging, Paediatric neurosurgery, Child, Preschool, Humans, Female, Lipoma, Prospective Studies, Lumbosacral lipoma, Retrospective Studies
Abstract

Funder: Great Ormond Street Hospital Charity; doi: http://dx.doi.org/10.13039/501100001279, PURPOSE: Lumbosacral lipoma (LSL) is a severe occult spinal dysraphism, frequently associated with neurological, urological and orthopaedic complications. Whole spine imaging is typically performed to identify concomitant, but spatially separate, congenital anomalies. Our hypothesis: the incidence of additional, clinically significant abnormalities of the neuraxis is low; thus, imaging should be optimised at the lumbosacral region. We aim to assess the prevalence and relevance of LSL-associated lesions. METHOD: A single-centre, retrospective, radiological review using a prospectively maintained operative database. INCLUSION CRITERIA: children (< 16 years) with confirmed diagnosis of LSL and received whole spine MRI. Fatty filum, syndromic cases and cutaneous stigmata above lesion level were excluded. Data was extracted from radiological imaging, reports and clinical correspondence. RESULTS: One hundred twelve patients (40:72, M:F) aged 0.5 years (0.2-2.7) (median ± IQR) with LSL had whole spine MRI between 2001 and 2017. Classification of LSL: transitional 48 (43%); dorsal 30 (27%); caudal 28 (25%) and chaotic 6 (5%). Additional anomalies included syringohydromyelia 44 (39%), subcutaneous tract 19 (17%), abnormal vertebral segmentation 18 (16%), dermoid cyst 1 and 1 Chiari I deformity. There were no Chiari II malformations. No child required surgery for an associated lesion. Binary logistic regression revealed no factors associated with predicting secondary lesions. CONCLUSIONS: In congenital LSL, additional anomalies of the neuraxis are typically loco-regional rather than pan-CNS and additional lesions are rarely clinically significant. The loco-regional distribution of anomalies suggests that only lumbosacral spinal imaging is required in the initial evaluation of LSL. Such a policy would lessen the anaesthetic/sedation time for children and reduce imaging cost per patient. MRI protocols could be refined to optimise imaging quality at the region of interest.

Published
2020
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121. Neuroimaging manifestations in children with SARS-CoV-2 infection: a multinational, multicentre collaborative study

Author

Lindan, Camilla E, primary, Mankad, Kshitij, additional, Ram, Dipak, additional, Kociolek, Larry K, additional, Silvera, V Michelle, additional, Boddaert, Nathalie, additional, Stivaros, Stavros Michael, additional, Palasis, Susan, additional, Akhtar, Sameen, additional, Alden, Douglas, additional, Amonkar, Suraj, additional, Aouad, Pascale, additional, Aubart, Mélodie, additional, Bacalla, Jose Alejandro, additional, Barbosa, Alcino A, additional, Basmaci, Romain, additional, Berteloot, Laureline, additional, Blauwblomme, Thomas, additional, Brun, Gilles, additional, Carney, Olivia, additional, Chareyre, Judith, additional, Chéron, Gérard, additional, Coimbra, Pablo Picasso De Araujo, additional, Dangouloff-Ros, Volodia, additional, D'Arco, Felice, additional, Dineen, Rob, additional, De-Pontual, Loic, additional, Desguerre, Isabelle, additional, Elfallal, Wissam, additional, Evans, D. Gareth, additional, Ferraciolli, Suely Fazio, additional, Girard, Nadine, additional, Gonçalves, Fabrício Guimarães, additional, Gonzalez, Ivan, additional, Grant, P. Ellen, additional, Grévent, David, additional, Guimaraes, Carolina Valduga de Alencastro, additional, Hassell, Jane, additional, Hirata, Fabiana C.C., additional, Kamaly-Asl, Ian, additional, Jacob, Jeffrey, additional, Jackson, Kandise, additional, Jones, Blaise V., additional, Joseph, Robin, additional, Jung, Ah Young, additional, Kashgari, Amna, additional, Kilday, John-Paul, additional, Kirsch, Alyssa, additional, Kossorotoff, Manoelle, additional, Krishnan, Anant, additional, Kulkarni, Shilpa, additional, Leruez-Vill, Marianne, additional, Lesage, Fabrice, additional, Levy, Raphaël, additional, Li, Yi, additional, Lima, Carol Cavalcante de Vasconcelos, additional, Lingappa, Lokesh, additional, Löbel, Ulrike, additional, Lopez-Alberola, Roberto, additional, Lucato, Leandro Tavares, additional, Moreira, Daniela Duarte, additional, Murnick, Jonathan G., additional, Nahmani, Sarah, additional, Pagariya, Shubra, additional, Pavaine, Julija, additional, Philbrook, Bryan, additional, Piovesan, Ana Cláudia, additional, Poisson, Kelsey E., additional, Reddy, Nihaal, additional, Riley, Phil, additional, Romsauerova, Andrea, additional, Roux, Charlies-Joris, additional, Rugilo, Carlos, additional, Saigal, Gaurav, additional, Salvador, Gabriel Lucca de Oliveira, additional, Seidenwurm, David, additional, Sermet-Gaudelus, Isabelle, additional, Sidpra, Jai, additional, Sudhakar, Sniya Valsa, additional, Toronchik, María Sol, additional, and Vézina, Gilbert, additional

Published
2021
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123. Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1(sprouty homolog 1) function

Author

Tooze, Rebecca S, Calpena, Eduardo, Twigg, Stephen R F, D’Arco, Felice, Wakeling, Emma L, and Wilkie, Andrew O M

Abstract

IntroductionSPRY1encodes protein sprouty homolog 1 (Spry-1), a negative regulator of receptor tyrosine kinase signalling. Null mutant mice display kidney/urinary tract abnormalities and altered size of the skull; complete loss-of-function of Spry-1 in humans has not been reported.MethodsAnalysis of whole-genome sequencing data from individuals with craniosynostosis enrolled in the 100,000 Genomes Project identified a likely pathogenic variant within SPRY1. Reverse-transcriptase PCR and western blot analysis were used to investigate the effect of the variant on SPRY1mRNA and protein, in lymphoblastoid cell lines from the patient and both parents.ResultsA nonsense variant in SPRY1,encoding p.(Leu27*), was confirmed to be heterozygous in the unaffected parents and homozygous in the child. The child’s phenotype, which included sagittal craniosynostosis, subcutaneous cystic lesions overlying the lambdoid sutures, hearing loss associated with bilateral cochlear and vestibular dysplasia and a unilateral renal cyst, overlapped the features reported in Spry1−/−null mice. Functional studies supported escape from nonsense-mediated decay, but western blot analysis demonstrated complete absence of full-length protein in the affected child and a marked reduction in both parents.ConclusionThis is the first report of complete loss of Spry-1 function in humans, associated with abnormalities of the cranial sutures, inner ear, and kidneys.

Published
2023
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124. Guidelines for magnetic resonance imaging in pediatric head and neck pathologies: a multicentre international consensus paper.

Author

D'Arco, Felice, Mertiri, Livja, de Graaf, Pim, De Foer, Bert, Popovič, Katarina S., Argyropoulou, Maria I., Mankad, Kshitij, Brisse, Hervé J., Juliano, Amy, Severino, Mariasavina, Van Cauter, Sofie, Ho, Mai-Lan, Robson, Caroline D., Siddiqui, Ata, Connor, Steve, Bisdas, Sotirios, on behalf of the Consensus for Magnetic Resonance Protocols Study (COMPS) Group, Bozzao, Alessandro, Sedlacik, Jan, and Espagnet, Camilla Rossi

Subjects
HEAD & neck cancer diagnosis, NECK radiography, CRANIAL radiography, CONSENSUS (Social sciences), MAGNETIC resonance imaging, MEDICAL protocols, DIAGNOSTIC imaging, CHILDREN
Abstract

The use of standardized imaging protocols is paramount in order to facilitate comparable, reproducible images and, consequently, to optimize patient care. Standardized MR protocols are lacking when studying head and neck pathologies in the pediatric population. We propose an international, multicenter consensus paper focused on providing the best combination of acquisition time/technical requirements and image quality. Distinct protocols for different regions of the head and neck and, in some cases, for specific pathologies or clinical indications are recommended. This white paper is endorsed by several international scientific societies and it is the result of discussion, in consensus, among experts in pediatric head and neck imaging. [ABSTRACT FROM AUTHOR]

Published
2022
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126. Multiparametric Imaging for Presurgical Planning of Craniopagus Twins: The Experience of Two Tertiary Pediatric Hospitals with Six Sets of Twins

Author

Eley, Karen A., primary, Rossi-Espagnet, Maria Camilla, additional, Schievano, Silvia, additional, Napolitano, Antonio, additional, Ong, Juling, additional, Secinaro, Aurelio, additional, Borro, Luca, additional, Dunaway, David, additional, Marras, Carlo Efisio, additional, Rennie, Adam, additional, Robertson, Fergus, additional, Picardo, Sergio, additional, Longo, Daniela, additional, Inserra, Alessandro, additional, Rollo, Massimo, additional, Cooper, Jessica, additional, Mankad, Kshitij, additional, Jeelani, Noor-Owase, additional, and D’Arco, Felice, additional

Published
2021
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130. Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development—a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis

Author

Chhabda, Sahil, primary, Sudhakar, Sniya, additional, Mankad, Kshitij, additional, Jorgensen, Mette, additional, Carceller, Fernando, additional, Jacques, Thomas S., additional, Merve, Ashirwad, additional, Aizpurua, Miren, additional, Chalker, Jane, additional, Garimberti, Elisa, additional, and D’Arco, Felice, additional

Published
2020
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132. Diagnostic algorithm for children presenting with epilepsia partialis continua

Author

Surana, Snehal, primary, Rossor, Thomas, additional, Hassell, Jane, additional, Boyd, Stewart, additional, D'Arco, Felice, additional, Aylett, Sarah, additional, Bhate, Sanjay, additional, Carr, Lucinda, additional, Das, Krishna, additional, DeVile, Catherine, additional, Eltze, Christin, additional, Hemingway, Cheryl, additional, Kaliakatsos, Marios, additional, O'Callaghan, Finbar, additional, Prabhakar, Prab, additional, Robinson, Robert, additional, Varadkar, Sophia, additional, Helen Cross, J, additional, and Hacohen, Yael, additional

Published
2020
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138. Hypothalamic hamartoma: epilepsy and neurodevelopmental profiles in a clinical cohort

Author

Pridmore, Clair, D’Arco, Felice, Siyani, Varsha, Bull, Leah, and Richardson, Hanna

Abstract

Objective. We aimed to determine the prevalence of epilepsy and neurodevelopmental disorders, including autism spectrum disorder, in children and adolescents with hypothalamic hamartoma (HH). We also sought to explore the relationship between these neurodevelopmental comorbidities and epilepsy and to establish the predictive value of structural characteristics of the hamartoma itself. Methods. We retrospectively studied a cohort of 62 children with HH, with neuroimaging reviewed at Great Ormond Street Hospital (GOSH) between 2008 and 2018. Clinical records were reviewed, cognitive and language data analysed, and MRI scans studied. Results. We confirmed a high burden of epilepsy (56%), autism (19%) and other neurodevelopmental disorders. Although rates of some neurodevelopmental disorders were significantly higher in those with epilepsy, autistic features and/or early developmental concerns often predated the onset of seizures, in particular generalized seizures, or occurred independently of seizures. We found a significant correlation between certain structural characteristics of the hamartoma itself and both epilepsy and certain neurodevelopmental comorbidities. Significance. These findings suggest that although seizure burden clearly contributes to the cognitive and behavioural phenotypes seen, the hamartoma itself, and particular characteristics of it, are likely to be primary determinants of both the epilepsy and neurodevelopmental profiles. It is also probable that the underlying aetiology, likely genetic, directly contributes to the clinical profile, with epilepsy, neurodevelopmental impairment and the hamartoma itself representing markers of this aetiology. We propose that atypical neurodevelopmental profiles in HH could best be conceptualized as a developmental and epileptic encephalopathy. These findings have implications for counselling, monitoring and treatment.

Published
2022
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139. Role of diffusion weighted imaging for differentiating cerebral pilocytic astrocytoma and ganglioglioma BRAF V600E-mutant from wild type

Author

MS Radiologie, Circulatory Health, Pathologie Pathologen staf, Cancer, Ramaglia, Antonia, Tortora, Domenico, Mankad, Kshitij, Lequin, Maarten, Severino, Mariasavina, D'Arco, Felice, Löbel, Ulrike, Benenati, Massimo, de Leng, Wendy W J, De Marco, Patrizia, Milanaccio, Claudia, Rossi, Andrea, Morana, Giovanni, MS Radiologie, Circulatory Health, Pathologie Pathologen staf, Cancer, Ramaglia, Antonia, Tortora, Domenico, Mankad, Kshitij, Lequin, Maarten, Severino, Mariasavina, D'Arco, Felice, Löbel, Ulrike, Benenati, Massimo, de Leng, Wendy W J, De Marco, Patrizia, Milanaccio, Claudia, Rossi, Andrea, and Morana, Giovanni

Published
2020

140. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

Author

Dobyns, William B., Aldinger, Kimberly A., Ishak, Gisele E., Mirzaa, Ghayda M., Timms, Andrew E., Grout, Megan E., Dremmen, Marjolein H.G., Schot, Rachel, Vandervore, Laura, van Slegtenhorst, Marjon A., Wilke, Martina, Kasteleijn, Esmee, Lee, Arthur S., Barry, Brenda J., Chao, Katherine R., Szczałuba, Krzysztof, Kobori, Joyce, Hanson-Kahn, Andrea, Bernstein, Jonathan A., Carr, Lucinda, D’Arco, Felice, Miyana, Kaori, Okazaki, Tetsuya, Saito, Yoshiaki, Sasaki, Masayuki, Das, Soma, Wheeler, Marsha M., Bamshad, Michael J., Nickerson, Deborah A., Engle, Elizabeth C., Verheijen, Frans W., Doherty, Dan, and Mancini, Grazia M.S.

Published
2018
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142. Venous pathologies in paediatric neuroradiology: from foetal to adolescent life

Author

Mankad, Kshitij, primary, Biswas, Asthik, additional, Espagnet, Maria Camilla Rossi, additional, Dixon, Luke, additional, Reddy, Nihaal, additional, Tan, Ai Peng, additional, Oztekin, Ozgur, additional, D’Arco, Felice, additional, Shekdar, Karuna, additional, Muthusami, Prakash, additional, Robertson, Fergus, additional, Goergen, Stacy, additional, and Chong, Winston, additional

Published
2019
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143. Role of diffusion weighted imaging for differentiating cerebral pilocytic astrocytoma and ganglioglioma BRAF V600E-mutant from wild type

Author

Ramaglia, Antonia, primary, Tortora, Domenico, additional, Mankad, Kshitij, additional, Lequin, Maarten, additional, Severino, Mariasavina, additional, D’Arco, Felice, additional, Löbel, Ulrike, additional, Benenati, Massimo, additional, de Leng, Wendy W. J., additional, De Marco, Patrizia, additional, Milanaccio, Claudia, additional, Rossi, Andrea, additional, and Morana, Giovanni, additional

Published
2019
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147. Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development—a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis

Author

Chhabda, Sahil, Sudhakar, Sniya, Mankad, Kshitij, Jorgensen, Mette, Carceller, Fernando, Jacques, Thomas S., Merve, Ashirwad, Aizpurua, Miren, Chalker, Jane, Garimberti, Elisa, and D'Arco, Felice

Subjects
DIAGNOSIS, GLIOMAS, BRAIN tumors, HUMAN abnormalities, GENETIC counseling, YOUNG adults, HEREDITARY nonpolyposis colorectal cancer
Abstract

Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare cancer-predisposition syndrome associated with a high risk of developing a spectrum of malignancies in childhood and adolescence, including brain tumours. In this report, we present the case of an 8-year-old boy with acute headache, vomiting and an episode of unconsciousness in whom brain imaging revealed a high-grade glioma (HGG). The possibility of an underlying diagnosis of CMMRD was suspected radiologically on the basis of additional neuroimaging findings, specifically the presence of multiple supratentorial and infratentorial developmental venous anomalies (DVAs) and malformations of cortical development (MCD), namely, heterotopic grey matter. The tumour was debulked and confirmed to be a HGG on histopathology. The suspected diagnosis of CMMRD was confirmed on immunohistochemistry and genetic testing which revealed mutations in PMS2 and MSH6. The combination of a HGG, multiple DVAs and MCD in a paediatric or young adult patient should prompt the neuroradiologist to suggest an underlying diagnosis of CMMRD. A diagnosis of CMMRD has an important treatment and surveillance implications not only for the child but also the family in terms of genetic counselling. [ABSTRACT FROM AUTHOR]

Published
2021
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148. Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.

Author

Cappuccio, Gerarda, Ceccatelli Berti, Camilla, Baruffini, Enrico, Sullivan, Jennifer, Shashi, Vandana, Jewett, Tamison, Stamper, Tara, Maitz, Silvia, Canonico, Francesco, Revah‐Politi, Anya, Kupchik, Gabriel S., Anyane‐Yeboa, Kwame, Aggarwal, Vimla, Benneche, Andreas, Bratland, Eirik, Berland, Siren, D'Arco, Felice, Alves, Cesar A., Vanderver, Adeline, and Longo, Daniela

Abstract

KARS1 encodes a lysyl‐transfer RNA synthetase (LysRS) that links lysine to its cognate transfer RNA. Two different KARS1 isoforms exert functional effects in cytosol and mitochondria. Bi‐allelic pathogenic variants in KARS1 have been associated to sensorineural hearing and visual loss, neuropathy, seizures, and leukodystrophy. We report the clinical, biochemical, and neuroradiological features of nine individuals with KARS1‐related disorder carrying 12 different variants with nine of them being novel. The consequences of these variants on the cytosol and/or mitochondrial LysRS were functionally validated in yeast mutants. Most cases presented with severe neurological features including congenital and progressive microcephaly, seizures, developmental delay/intellectual disability, and cerebral atrophy. Oculo‐motor dysfunction and immuno‐hematological problems were present in six and three cases, respectively. A yeast growth defect of variable severity was detected for most variants on both cytosolic and mitochondrial isoforms. The detrimental effects of two variants on yeast growth were partially rescued by lysine supplementation. Congenital progressive microcephaly, oculo‐motor dysfunction, and immuno‐hematological problems are emerging phenotypes in KARS1‐related disorder. The data in yeast emphasize the role of both mitochondrial and cytosolic isoforms in the pathogenesis of KARS1‐related disorder and supports the therapeutic potential of lysine supplementation at least in a subset of patients. [ABSTRACT FROM AUTHOR]

Published
2021
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149. Observations on the growth of temporalis muscle: A 3D CT imaging study.

Author

Moltoni, Giulia, D'Arco, Felice, Rossi‐Espagnet, Maria Camilla, James, Greg, and Hayward, Richard

Subjects
*COMPUTED tomography, *THREE-dimensional imaging, *TEMPORALIS muscle, *MUSCLE growth, *CRANIOMETRY, *BONE growth
Abstract

This study investigates the hypothesis that there is, during childhood, a disproportionate age‐related expansion of the origin of temporalis muscle compared to the growth of the underlying skull. Lateral projections of 50 randomly selected 3D reformatted computerized tomographic (CT) scans (yielding 100 temporalis muscles) of children aged >0.6 to 15 years scanned for conditions that did not affect the shape of their head or face were windowed to provide the optimum delineation of temporalis muscle against the underlying bone. Vertical and anterior–posterior measurements of the muscle made independently by two observers were compared with those of the skull along the same planes. The development of the anterior temporal crest was also assessed. The intraclass correlation coefficient for differences in the measurements made by each observer ranged from good to excellent. The muscle and skull measurements were used to produce a ratio of muscle‐to‐skull lengths in both vertical and horizontal planes. Analysis of these ratios showed a statistically significant increase in the vertical reach of temporalis with age (Pearson correlation coefficient (R) =0.7826; p < 0.05) compared to the growth of the skull along the planes chosen for the study—but less so for its horizontal reach (R = 0.5073. p <.001). There were no significant differences between right/left or male/female measurements. There was also a substantial level of agreement between both observers in their assessment of the development of the temporal crest. The mean age of children in whom a fully formed temporal crest could be identified (10.6 years) was significantly greater (p < 0.001) than that of the 38 remaining subjects (6.0 years). These results confirm that there is, in response to increased masticatory/dietary demands during childhood, a disproportionate increase in the vertical and (to a lesser extent) horizontal reach of temporalis muscle over its origin from the temporal, frontal, sphenoid, and parietal bones compared the growth of the skull. It is proposed that surgical interference with this normal process is responsible for the soft tissue component of late‐developing deformity that can occur following early (at 6–18 months of age) operations for the correction of trigonocephalic head shape associated with metopic synostosis. [ABSTRACT FROM AUTHOR]

Published
2021
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150. Deep Learning for Low-Field to High-Field MR: Image Quality Transfer with Probabilistic Decimation Simulator

Author

Lin, Hongxiang, Figini, Matteo, Tanno, Ryutaro, Blumberg, Stefano B., Kaden, Enrico, Ogbole, Godwin, Brown, Biobele J., D'Arco, Felice, Carmichael, David W., Lagunju, Ikeoluwa, Cross, Helen J., Fernandez-Reyes, Delmiro, Alexander, Daniel C., Lin, Hongxiang, Figini, Matteo, Tanno, Ryutaro, Blumberg, Stefano B., Kaden, Enrico, Ogbole, Godwin, Brown, Biobele J., D'Arco, Felice, Carmichael, David W., Lagunju, Ikeoluwa, Cross, Helen J., Fernandez-Reyes, Delmiro, and Alexander, Daniel C.

Abstract

MR images scanned at low magnetic field ($<1$T) have lower resolution in the slice direction and lower contrast, due to a relatively small signal-to-noise ratio (SNR) than those from high field (typically 1.5T and 3T). We adapt the recent idea of Image Quality Transfer (IQT) to enhance very low-field structural images aiming to estimate the resolution, spatial coverage, and contrast of high-field images. Analogous to many learning-based image enhancement techniques, IQT generates training data from high-field scans alone by simulating low-field images through a pre-defined decimation model. However, the ground truth decimation model is not well-known in practice, and lack of its specification can bias the trained model, aggravating performance on the real low-field scans. In this paper we propose a probabilistic decimation simulator to improve robustness of model training. It is used to generate and augment various low-field images whose parameters are random variables and sampled from an empirical distribution related to tissue-specific SNR on a 0.36T scanner. The probabilistic decimation simulator is model-agnostic, that is, it can be used with any super-resolution networks. Furthermore we propose a variant of U-Net architecture to improve its learning performance. We show promising qualitative results from clinical low-field images confirming the strong efficacy of IQT in an important new application area: epilepsy diagnosis in sub-Saharan Africa where only low-field scanners are normally available.

Published
2019

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