16 results on '"Teoh, Hooi Ling"'
Search Results
2. Urgent computed tomography angiography in paediatric stroke
- Author
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Briest, Romain C., primary, Cheung, Andrew K., additional, Kandula, Tejaswi, additional, Cardamone, Michael, additional, Pillai, Sekhar C., additional, Sampaio, Hugo, additional, Teoh, Hooi‐Ling, additional, Webster, Richard I., additional, Wenderoth, Jason D., additional, and Andrews, P. Ian, additional
- Published
- 2022
- Full Text
- View/download PDF
3. Urgent computed tomography angiography in paediatric stroke.
- Author
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Briest, Romain C., Cheung, Andrew K., Kandula, Tejaswi, Cardamone, Michael, Pillai, Sekhar C., Sampaio, Hugo, Teoh, Hooi‐Ling, Webster, Richard I., Wenderoth, Jason D., and Andrews, P. Ian
- Subjects
MAGNETIC resonance angiography ,COMPUTED tomography ,ANGIOGRAPHY ,MAGNETIC resonance imaging ,DELAYED diagnosis ,ARTERIAL dissections ,HEMIPARESIS - Abstract
Aim: To improve delivery of acute therapies for acute ischaemic stroke (AIS). Method: We identified factors influencing the speed of diagnosis and delivery of acute therapies in a prospective cohort of 21 children with suspected AIS (eight with AIS, 13 stroke mimics) and explored them in a retrospective cohort with confirmed AIS. Results: Approximately half of the prospective and total AIS cohorts presented with acute, sustained hemiparesis, and were diagnosed relatively quickly. AIS was suspected and diagnosed more slowly in the half presenting with symptoms other than sustained hemiparesis. Thirty‐one out of 51 patients with AIS (19 females, 32 males, mean age 8 years 6 months, SD 5 years 4 months) had arterial abnormalities identified by computed tomography angiography (CTA) or magnetic resonance angiography (MRA): 11 with large vessel occlusion, six with dissection, five with moyamoya disease, nine with other arteriopathies. Among these patients, those initially imaged with CTA were diagnosed more quickly than those with initial magnetic resonance imaging/angiography, which facilitated thrombectomy and thrombolytic therapy. Twenty out of 51 had AIS without arterial abnormalities on CTA or MRA: eight with lenticulostriate vasculopathy and 12 with other small‐vessel AIS. Among these patients, 80% were ineligible for thrombolysis for reasons beyond delay to diagnosis, and all showed good outcomes with supportive treatments alone. Interpretation: Clinical features at presentation influence rapidity with which childhood AIS is suspected and diagnosed. Readily available CTA can direct thrombectomy in patients with large vessel occlusion and thrombolysis in most, but not all, eligible patients. What this paper adds: Children with acute ischaemic stroke (AIS) commonly present with symptoms other than sustained hemiparesis.Stroke is more slowly recognized in these patients, which limits potential therapies.Computed tomography angiography (CTA) accurately identifies AIS with large vessel occlusion, enabling timely endovascular thrombectomy.CTA is sufficient to direct thrombolytic therapy in most eligible children.Most childhood AIS without arterial abnormalities identified by CTA had good outcomes. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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- View/download PDF
4. Clinical Characteristics and Functional Motor Outcomes of Enterovirus 71 Neurological Disease in Children
- Author
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Teoh, Hooi-Ling, Mohammad, Shekeeb S., Britton, Philip N., Kandula, Tejaswi, Lorentzos, Michelle S., Booy, Robert, Jones, Cheryl A., Rawlinson, William, Ramachandran, Vidiya, Rodriguez, Michael L., Andrews, P. Ian, Dale, Russell C., Farrar, Michelle A., and Sampaio, Hugo
- Published
- 2016
- Full Text
- View/download PDF
5. Congenital Titinopathy: Comprehensive characterization and pathogenic insights
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Oates, Emily, Jones, Kristi, Donkervoort, Sandra, Charlton, Amanda, Brammah, Susan, Smith, John, Ware, James, Yau, Kyle, Swanson, Lindsay, Whiffin, Nicola, Peduto, Anthony, Bournazos, Adam, Waddell, Leigh, Farrar, Michelle, Sampaio, Hugo, Teoh, Hooi Ling, Lamont, Phillipa, Mowat, David, Fitzsimons, Robin, Corbett, Alastair, Ryan, Monique, O'Grady, Gina, Sandaradura, Sarah, Ghaoui, Roula, Joshi, Himanshu, Marshall, Jamie, Nolan, Melinda, Kaur, Simranpreet, Punetha, Jaya, Töpf, Ana, Harris, Elizabeth, Bakshi, Madhura, Genetti, Casie, Marttila, Minttu, Werlauff, Ulla, Streichenberger, Nathalie, Pestronk, Alan, Mazanti, Ingrid, Pinner, Jason, Vuillerot, Carole, Grosmann, Carla, Camacho, Ana, Mohassel, Payam, Leach, Meganne, Foley, A Reghan, Bharucha-Goebel, Diana, Collins, James, Connolly, Anne, Gilbreath, Heather, Iannaccone, Susan, Castro, Diana, Cummings, Beryl, WEBSTER, Richard, Lazaro, Leila, Vissing, John, Coppens, Sandra, Deconinck, Nicolas, Luk, Ho-Ming, Thomas, Neil, Foulds, Nicola, Illingworth, Marjorie, Ellard, Sian, Mclean, Catriona, Phadke, Rahul, Ravenscroft, Gianina, Witting, Nanna, Hackman, Peter, Richard, Isabelle, Cooper, Sandra, Kamsteeg, Erik-Jan, Hoffman, Eric, Bushby, Kate, Straub, Volker, Udd, Bjarne, Ferreiro, Ana, North, Kathryn, Clarke, Nigel, Lek, Monkol, Beggs, Alan, Bönnemann, Carsten, MacArthur, Daniel, Granzier, Henk, Davis, Mark, Laing, Nigel, Foley, A. Reghan, Bharucha‐Goebel, Diana, Luk, Ho‐Ming, Kamsteeg, Erik‐Jan, The University of Sydney, Institute for Neuroscience and Muscle Research, Westmead Hospital [Sydney], Prologue, Hospices Civils de Lyon (HCL), Washington University in St Louis, Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Department of Neurology, Rady Children's Hospital San Diego, National Institute of Neurological Disorders and Stroke [Bethesda] (NINDS), National Institutes of Health [Bethesda] (NIH), German Research Centre for Geosciences - Helmholtz-Centre Potsdam (GFZ), Duke University [Durham], Rothamsted Research, Département de médecine de l'enfant et de l'adolescent, University of Copenhagen = Københavns Universitet (KU), Université Libre de Bruxelles [Bruxelles] (ULB), University of Birmingham [Birmingham], Our Lady's hospital for Sick Children, Our Lady's Hospital for Sick Children, Royal Devon and Exeter Foundation Trust, State Neuropathology Service, Department of Pathology, University of Melbourne, The University of Western Australia (UWA), Haartman Institute [Helsinki], Faculty of Medecine [Helsinki], University of Helsinki-University of Helsinki, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), École pratique des hautes études (EPHE)-Université d'Évry-Val-d'Essonne (UEVE)-GENETHON 3-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurology Department, Physiopathologie et thérapie du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Neuroscience, Uppsala University, Boston Children's Hospital, Washington State University (WSU), University of East London & Glasgow Caledonian University, Centre for Medical Research, Richard, Isabelle, Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Washington University in Saint Louis (WUSTL), Université de Lyon, Le CHCB, Centre Hospitalier de la Côte Basque, École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon, Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université libre de Bruxelles (ULB), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Centre Hospitalier de la Côte Basque (CHCB), and École Pratique des Hautes Études (EPHE)
- Subjects
Cardiomyopathy, Dilated ,Male ,MESH: Connectin ,MESH: Mutation ,[SDV.BIO]Life Sciences [q-bio]/Biotechnology ,education ,Muscle Proteins ,[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics ,MESH: Protein Isoforms ,[SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology ,MESH: Phenotype ,Article ,MESH: Muscle Proteins ,Humans ,Protein Isoforms ,Connectin ,Muscle, Skeletal ,MESH: Cardiomyopathy, Dilated ,health care economics and organizations ,MESH: Muscle, Skeletal ,MESH: Humans ,[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology ,MESH: Male ,[SDV.BIO] Life Sciences [q-bio]/Biotechnology ,Phenotype ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Mutation ,Female ,MESH: Female - Abstract
International audience; Objective: Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder.Methods: Using massively parallel sequencing we identified 30 patients from 27 families with 2 pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathological and imaging features of these patients.Results: All patients had prenatal or early onset hypotonia and/or congenital contractures. None had ophthalmoplegia. Scoliosis and respiratory insufficiency typically developed early and progressed rapidly, whereas limb weakness was often slowly progressive, and usually did not prevent independent walking. Cardiac involvement was present in 46% of patients. Relatives of 2 patients had dilated cardiomyopathy. Creatine kinase levels were normal to moderately elevated. Increased fiber size variation, internalized nuclei and cores were common histopathological abnormalities. Cap-like regions, whorled or ring fibers, and mitochondrial accumulations were also observed. Muscle magnetic resonance imaging showed gluteal, hamstring and calf muscle involvement. Western blot analysis showed a near-normal sized titin protein in all samples. The presence of 2 mutations predicted to impact both N2BA and N2B cardiac isoforms appeared to be associated with greatest risk of cardiac involvement. One-third of patients had 1 mutation predicted to impact exons present in fetal skeletal muscle, but not included within the mature skeletal muscle isoform transcript. This strongly suggests developmental isoforms are involved in the pathogenesis of this congenital/early onset disorder.Interpretation: This detailed clinical reference dataset will greatly facilitate diagnostic confirmation and management of patients, and has provided important insights into disease pathogenesis. Ann Neurol 2018;83:1105-1124.
- Published
- 2018
6. Pathogenesis of motor neurone diseases in young people
- Author
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Teoh, Hooi Ling
- Abstract
This thesis examines the pathogenesis of motor neuron diseases in young people. A variety of causes may be considered but the most common motor neuronopathy in children is attributable to picornavirus infections, presenting with an acute flaccid paralysis that may occur in outbreaks. In those with insidious onset and slow progression a genetic basis is frequently considered with spinal muscular atrophy (SMA) being the most common inherited motor neuron disease. In order to examine the pathogenesis, this thesis looked at the acquired and inherited motor neuronopathy of young people. Assessment of the acquired group was focused on non-polio enterovirus, enterovirus 71(EV71). Clinical, neuroimaging, laboratory and pathological characteristics together with treatment administered and functional motor outcomes were assessed during a 2013 outbreak of EV71 in Sydney, Australia. Distinct clinico-radiological syndromes, predominantly within the spinal cord and brainstem, enable rapid recognition within evolving outbreaks. Long-term functional neurological morbidity is associated with paresis linked to involvement of grey matter in the brainstem and/or spinal cord. Assessment of the inherited group focused on children and young people with lower motor neurone (LMN) syndromes. Delineation of SMA and LMN syndromes are important as expansion of effective therapies and clinical trials occur. Our study assessed the ability to better characterise patients with LMN syndromes by integrating next generation sequencing (NGS) with conventional clinical approaches. Clinical assessment and diagnostic investigations were important in endorsing NGS findings. This study identified NGS has shifted the diagnostic paradigm with consequent diagnostic accuracy having a substantial impact on patient management, potentially enabling change of clinical management, genetic counselling with accurate prognosis and also importantly expansion of phenotypes. In a clinic cohort of children and adults with LMN syndrome, the present study confirms the utility of NGS as a rapid, efficacious and useful tool in diagnosis after usual first tier investigations. In conclusion, studies undertaken in this thesis have established that both acquired and inherited causes of motor neurone disease lead to long-term functional morbidity. These insights are important in advancing clinical diagnostic approaches, management and developing novel therapies. Attaining a definitive diagnosis had significant implications for patients and families.
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- 2017
- Full Text
- View/download PDF
7. Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy
- Author
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Teoh, Hooi Ling, Carey, Kate, Sampaio, Hugo, Mowat, David, Roscioli, Tony, and Farrar, Michelle
- Subjects
Article Subject - Abstract
Paediatric motor neuron diseases encompass a group of neurodegenerative diseases characterised by the onset of muscle weakness and atrophy before the age of 18 years, attributable to motor neuron loss across various neuronal networks in the brain and spinal cord. While the genetic underpinnings are diverse, advances in next generation sequencing have transformed diagnostic paradigms. This has reinforced the clinical phenotyping and molecular genetic expertise required to navigate the complexities of such diagnoses. In turn, improved genetic technology and subsequent gene identification have enabled further insights into the mechanisms of motor neuron degeneration and how these diseases form part of a neurodegenerative disorder spectrum. Common pathophysiologies include abnormalities in axonal architecture and function, RNA processing, and protein quality control. This review incorporates an overview of the clinical manifestations, genetics, and pathophysiology of inherited paediatric motor neuron disorders beyond classic SMN1-related spinal muscular atrophy and describes recent advances in next generation sequencing and its clinical application. Specific disease-modifying treatment is becoming a clinical reality in some disorders of the motor neuron highlighting the importance of a timely and specific diagnosis.
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- 2017
- Full Text
- View/download PDF
8. Nusinersen for SMA: expanded access programme
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Farrar, Michelle A, primary, Teoh, Hooi Ling, additional, Carey, Kate A, additional, Cairns, Anita, additional, Forbes, Robin, additional, Herbert, Karen, additional, Holland, Sandra, additional, Jones, Kristi J, additional, Menezes, Manoj P, additional, Morrison, Margot, additional, Munro, Kate, additional, Villano, Daniella, additional, Webster, Richard, additional, Woodcock, Ian R, additional, Yiu, Eppie M, additional, Sampaio, Hugo, additional, and Ryan, Monique M, additional
- Published
- 2018
- Full Text
- View/download PDF
9. Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency
- Author
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Teoh, Hooi Ling, primary, Solyom, Alexander, additional, Schuchman, Edward H., additional, Mowat, David, additional, Roscioli, Tony, additional, Farrar, Michelle, additional, and Sampaio, Hugo, additional
- Published
- 2016
- Full Text
- View/download PDF
10. Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications
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Farrar, Michelle A., primary, Teoh, Hooi Ling, additional, Brammah, Susan, additional, Roscioli, Tony, additional, and Cardamone, Michael, additional
- Published
- 2016
- Full Text
- View/download PDF
11. Approaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencing
- Author
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Teoh, Hooi Ling, primary, Sampaio, Hugo, additional, Roscioli, Tony, additional, and Farrar, Michelle, additional
- Published
- 2016
- Full Text
- View/download PDF
12. Enterovirus 71 Neuroimaging: âÂÂThe New Polio of the 21st CenturyâÂÂ
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Teoh, Hooi Ling, primary
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- 2015
- Full Text
- View/download PDF
13. 22.
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Teoh, Hooi Ling, primary, Sampaio, Hugo, additional, and Farrar, Michelle, additional
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- 2014
- Full Text
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14. 22.: The pseudo-poliomyelitis of the 21st century, enterovirus 71
- Author
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Teoh, Hooi Ling, Sampaio, Hugo, and Farrar, Michelle
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- 2014
- Full Text
- View/download PDF
15. Approaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencing.
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Hooi Ling Teoh, Sampaio, Hugo, Roscioli, Tony, Farrar, Michelle, and Teoh, Hooi Ling
- Subjects
HUMAN chromosome abnormality diagnosis ,NEUROMUSCULAR diseases ,CHROMOSOMAL translocation ,MYOTONIA atrophica ,PATHOGENIC microorganisms ,THERAPEUTICS - Published
- 2016
- Full Text
- View/download PDF
16. Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
- Author
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Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, and Laing NG
- Subjects
- Female, Humans, Male, Mutation genetics, Phenotype, Protein Isoforms genetics, Cardiomyopathy, Dilated congenital, Connectin genetics, Muscle Proteins genetics, Muscle, Skeletal pathology
- Abstract
Objective: Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder., Methods: Using massively parallel sequencing we identified 30 patients from 27 families with 2 pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathological and imaging features of these patients., Results: All patients had prenatal or early onset hypotonia and/or congenital contractures. None had ophthalmoplegia. Scoliosis and respiratory insufficiency typically developed early and progressed rapidly, whereas limb weakness was often slowly progressive, and usually did not prevent independent walking. Cardiac involvement was present in 46% of patients. Relatives of 2 patients had dilated cardiomyopathy. Creatine kinase levels were normal to moderately elevated. Increased fiber size variation, internalized nuclei and cores were common histopathological abnormalities. Cap-like regions, whorled or ring fibers, and mitochondrial accumulations were also observed. Muscle magnetic resonance imaging showed gluteal, hamstring and calf muscle involvement. Western blot analysis showed a near-normal sized titin protein in all samples. The presence of 2 mutations predicted to impact both N2BA and N2B cardiac isoforms appeared to be associated with greatest risk of cardiac involvement. One-third of patients had 1 mutation predicted to impact exons present in fetal skeletal muscle, but not included within the mature skeletal muscle isoform transcript. This strongly suggests developmental isoforms are involved in the pathogenesis of this congenital/early onset disorder., Interpretation: This detailed clinical reference dataset will greatly facilitate diagnostic confirmation and management of patients, and has provided important insights into disease pathogenesis. Ann Neurol 2018;83:1105-1124., (© 2018 American Neurological Association.)
- Published
- 2018
- Full Text
- View/download PDF
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