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1.

001-es BibID:BIBFORM020057
Első szerző:Abhinav, Kumar
Cím:Electrical injury and amyotrophic lateral sclerosis : a systematic review of the literature / Kumar Abhinav, Ammar Al-Chalabi,Tibor Hortobagyi, P. Nigel Leigh
Dátum:2007
ISSN:0022-3050
Megjegyzések:Electrical injury may act as a potential precipitating or risk factor for amyotrophic lateral sclerosis (ALS). A systematic review of the literature was undertaken to assess the relationship between electrical injury and the development of ALS. Information for the review was obtained using five medical databases, and from manual searching of individual papers. Patients presenting with a neurological syndrome after electrical injury, including lightning, were included and classified into four categories: ALS; progressive upper motor neurone (UMN) syndrome; progressive lower motor neurone (LMN) syndrome; and non-progressive syndrome. Linear regression and chi2 testing were used for analysis of the data. 96 individuals, comprising 44 with ALS, 1 with a progressive UMN syndrome, 7 with a progressive LMN syndrome and 44 with a non-progressive syndrome, were identified from 31 papers with publication dates between 1906 and 2002. The median interval between electrical injury and disease onset was 2.25 years for all progressive syndromes and just over 1 week for the non-progressive syndrome. The more severe the shock (excluding lightning), the more likely individuals were to have a non-progressive motor syndrome. A non-progressive spinal cord syndrome is associated with more severe electrical injury. Overall, the evidence reviewed does not support a causal relationship between ALS and electric shock.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Journal of Neurology Neurosurgery and Psychiatry. - 78 : 5 (2007), p. 450-453. -
További szerzők:Al-Chalabi, Ammar Hortobágyi Tibor (1965-) (patológus) Leigh, P. Nigel
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2.

001-es BibID:BIBFORM082379
035-os BibID:(cikkazonosító)2909168
Első szerző:Babić Leko, Mirjana
Cím:Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion / Mirjana Babić Leko, Vera Župunski, Jason Kirincich, Dinko Smilović, Tibor Hortobágyi, Patrick R. Hof, Goran Šimić
Dátum:2019
ISSN:0953-4180
Megjegyzések:Two clinically distinct diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), have recently been classified as two extremes of the FTD/ALS spectrum. The neuropathological correlate of FTD is frontotemporal lobar degeneration (FTLD), characterized by tau-, TDP-43-, and FUS-immunoreactive neuronal inclusions. An earlier discovery that a hexanucleotide repeat expansion mutation in chromosome 9 open reading frame 72 (C9orf72) gene causes ALS and FTD established a special subtype of ALS and FTLD with TDP-43 pathology (C9FTD/ALS). Normal individuals carry 2-10 hexanucleotide GGGGCC repeats in the C9orf72 gene, while more than a few hundred repeats represent a risk for ALS and FTD. The proposed molecular mechanisms by which C9orf72 repeat expansions induce neurodegenerative changes are C9orf72 loss-of-function through haploinsufficiency, RNA toxic gain-of-function, and gain-of-function through the accumulation of toxic dipeptide repeat proteins. However, many more cellular processes are affected by pathological processes in C9FTD/ALS, including nucleocytoplasmic transport, RNA processing, normal function of nucleolus, formation of membraneless organelles, translation, ubiquitin proteasome system, Notch signalling pathway, granule transport, and normal function of TAR DNA-binding protein 43 (TDP-43). Although the exact molecular mechanisms through which C9orf72 repeat expansions account for neurodegeneration have not been elucidated, some potential therapeutics, such as antisense oligonucleotides targeting hexanucleotide GGGGCC repeats in mRNA, were successful in preclinical trials and are awaiting phase 1 clinical trials. In this review, we critically discuss each proposed mechanism and provide insight into the most recent studies aiming to elucidate the molecular underpinnings of C9FTD/ALS.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Behavioural Neurology. - 2019 (2019), p. 1-18. -
További szerzők:Župunski, Vera Kirincich, Jason Smilović, Dinko Hortobágyi Tibor (1965-) (patológus) Hof, Patrick R. Šimić, Goran
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3.

001-es BibID:BIBFORM063677
Első szerző:Gajda Anna
Cím:Nemaline Myopathy Type 2 (NEM2): Two Novel Mutations in the Nebulin (NEB) Gene / Anna Gajda, Emese Horváth, Tibor Hortobágyi, Gyurgyinka Gergev, Hajnalka Szabó, Katalin Farkas, Nikoletta Nagy, Márta Széll, László Sztriha
Dátum:2013
ISSN:0883-0738
Megjegyzések:Nemaline myopathy is a type of the heterogeneous group of congenital myopathies. Generalized hypotonia, weakness, anddelayed motor development are the main clinical features of the typical congenital form. Histopathology shows characteristicnemaline rods in the muscle biopsy. Mutations in at least 7 genes, including nebulin gene (NEB), proved to be responsible for thismuscle disease. We present a boy with nemaline myopathy type 2 (NEM2) caused by compound heterozygosity for 2 novelmutations, a deletion and a duplication in the NEB gene. The deletion was inherited from the father and the duplication from themother. Testing all family members supports genetic counseling.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
congenital myopathy
hypotonia
nebulin
Megjelenés:Journal Of Child Neurology. - 30 : 5 (2013), p. 627-630. -
További szerzők:Horváth Emese Hortobágyi Tibor (1965-) (patológus) Gergev, Gyurgyinka Szabó Hajnalka Farkas Katalin Nagy Nikoletta Széll Márta Sztriha László
Pályázati támogatás:TA? MOP-4.2.2.A-11/1/KONV-2012-0035
Egyéb
TA? MOP-4.2.2/ B-10/1/KONV 2010-0012
Egyéb
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4.

001-es BibID:BIBFORM020101
Első szerző:Görlach, Christoph
Cím:Neuronal nitric oxide synthase inhibitor has a neuroprotective effect in a rat model of brain injury / Christoph Görlach, Tibor Hortobágyi, Szabolcs Hortobágyi, Zoltán Benyó
Dátum:2000
Megjegyzések:Purpose: The aim of the present study was to assess the effects of neuronal nitric oxide synthase (NOS I) inhibitors and a combination of NOS I and NOS II inhibitors on lesion volume after experimental brain injury. Methods: Cold lesion of the brain was induced by application of a precooled (-78 degrees C) copper cylinder to the intact dura of the rat for 6 s. Brains were removed 24 h after the injury and lesion volume determined using the triphenyltetrazolium-chloride method. Results: The specific NOS I inhibitor 3-bromo-7-nitroindazole (Br-7-NI) reduced lesion volume significantly by 21 % compared with the vehicle control. In contrast, 7-nitroindazole had no effect on lesion volume. When aminoguanidine, a specific NOS II inhibitor, was adminis-tered after Br-7-NI, lesion volume was significantly reduced but not significantly more than with either compound alone. Conclusion: Brain injury after cold lesion is partly mediated by NOS I activity and can be attenuated successfully with Br-7-NI, while coin-hibition of NOS II does not improve the outcome significantly.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Restorative Neurology and Neuroscience. - 17 : 2-3 (2000), p. 71-76. -
További szerzők:Hortobágyi Tibor (1965-) (patológus) Hortobágyi Szabolcs Benyó Zoltán
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5.

001-es BibID:BIBFORM020061
Első szerző:Hortobágyi Tibor (patológus)
Cím:X-linked myotubular myopathy : report of a case with novel mutation / Tibor Hortobagyi, Hajnalka Szabó, Krisztián S. Kovács, István Bódi, Edit Bereg, Márta Katona, Valérie Biancalana, Sándor Túri, László Sztriha
Dátum:2007
ISSN:0883-0738
Megjegyzések:Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe X-linked recessive type (XLMTM). A baby boy presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis, and respiratory insufficiency. Muscle biopsy showed features of myotubular myopathy. The diagnosis was confirmed and further specified by genetic analysis, revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene. This case underlines the importance of interdisciplinary analysis of congenital muscle diseases, including histomorphological and genetic investigations.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Journal of Child Neurology. - 22 : 4 (2007), p. 447-451. -
További szerzők:Szabó Hajnalka Kovács S. Krisztián Bódi István (1967-) (neuropatológus) Bereg Edit Katona Márta Biancalana, Valérie Túri Sándor (gyermekorvos, nephrológus) Sztriha László
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6.

001-es BibID:BIBFORM085368
Első szerző:Jenkins, Thomas
Cím:A dysphasic diabetic with confusion and fever / Jenkins Thomas, Hortobágyi Tibor, Sibtain Naomi
Dátum:2005
ISSN:1474-7758 1474-7766
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Practical Neurology. - 5 : 4 (2005), p. 230-235. -
További szerzők:Hortobágyi Tibor (1965-) (patológus) Sibtain, Naomi
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7.

001-es BibID:BIBFORM016360
Első szerző:Kirvell, S. L.
Cím:Vesicular glutamate transporter and cognition in stroke : a case-control autopsy study / S. L. Kirvell, M. S. Elliott, R. N. Kalaria, T. Hortobágyi, C. G. Ballard, P. T. Francis
Dátum:2010
ISSN:0028-3878
Megjegyzések:OBJECTIVES: Vascular dementia (VaD) accounts for approximately 15%-20% of all dementias, but the relationship of progressive cognitive impairment to neurochemical changes is poorly understood. We have therefore investigated glutamatergic synaptic markers in VaD. METHODS: We used homogenates prepared from gray matter from 2 neocortical regions (Brodmann area [BA] 9 and BA 20) and Western blotting to determine the concentrations of key components of the glutamatergic neurotransmitter system, vesicular glutamate transporter 1 (VGLUT1) and excitatory amino acid transporter EAAT2 (GLT-1), and the ubiquitous synaptic protein, synaptophysin, in 73 individuals-48 patients with cerebrovascular disease with and without dementia, 10 patients with AD, and 15 controls-in a case-control design. RESULTS: VGLUT1 concentrations in BA 20 and BA 9 were correlated with CAMCOG total (Rs 0.525, p = 0.018, n = 20; Rs 0.560, p = 0.002, n = 27) and CAMCOG memory scores (Rs 0.616, p = 0.004, n = 20; Rs 0.675, p = 0.000, n = 27). VGLUT1 concentration in BA 9 differed between the different dementia groups and the stroke no dementia group (1-way analysis of variance F = 6.69, p = 0.001 and Bonferroni p < 0.01 in each case), with subjects with stroke who did not develop dementia exhibiting the highest mean value for VGLUT1. CONCLUSIONS: These data suggest that loss of glutamatergic synapses is a feature of VaD and Alzheimer disease but the preservation of synapses, in particular glutamatergic synapses, in the frontal cortex against the temporal cortex plays a role in sustaining cognition and protecting against dementia following a stroke.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Neurology. - 75 : 20 (2010), p. 1803-1809. -
További szerzők:Elliott, Mark S. J. Kalaria, Rajesh N. Hortobágyi Tibor (1965-) (patológus) Ballard, Clive G. Francis, Paul T.
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8.

001-es BibID:BIBFORM082382
Első szerző:Klekner Álmos (idegsebész)
Cím:Influence of Oncotherapy and Clinical Parameters on Survival of Glioblastoma Patients : a Single Center Experience / Almos Klekner, Judit Tóth, József Virga, Tibor Hortobágyi, Ádám Dér, Csaba Szemcsák, Judit Reményi-Puskár, László Bognár
Dátum:2019
ISSN:0028-3886 1998-4022
Megjegyzések:BACKGROUND: Routine administration of temozolomide (TMZ) in the treatment protocol of glioblastoma in the last few years resulted in improving survival parameters of these patients but efficacy of supplementary bevacizumab (BVC) monotherapy has not been evidently proven. In this study, the effectiveness of different postoperative therapy for glioblastoma patients treated in our institute was evaluated. In addition, the prognostic value of clinical parameters on survival was also analyzed. METHODS: Accordance of clinical parameters (age, gender, tumor localization, size, side, Karnofsky performance score, and extension of tumor removal), postoperative treatment (radiotherapy [RT], RT + TMZ, RT + TMZ + BVC), and survival data were tested by 104 patients operated on glioblastoma in the Department of Neurosurgery, University of Debrecen between 2002 and 2012. RESULTS: Concurrent chemo-RT resulted in significant longer overall survival (OS) than RT alone (PRTvs.RT + TMZ = 0.0219) and BVC treatment after progression during TMZ also elongated survival significantly (PRT vs. RT + TMZ + BVC < 0.0001; PRT + TMZvs.RT + TMZ + BVC = 0.0022), respectively. Clinical parameters showed no significant influence on OS in comparison with different methods of postoperative oncotherapy. CONCLUSIONS: Both TMZ and BVC had a beneficial effect on glioblastoma patients' survival, but tested clinical parameters showed no evident accordance with final outcome. Although neurosurgery has an indispensable role in resecting space occupying tumors and providing good postoperative performance score patients for oncotherapy, the survival of glioblastoma patients depends rather on radio- and chemo-sensitivity than tested clinical parameters.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Neurology India. - 67 : 4 (2019), p. 1066-1073. -
További szerzők:Tóth Judit (1958-) (onkológus szakorvos) Virga József (1989-) Hortobágyi Tibor (1965-) (patológus) Dér Ádám Szemcsák Csaba D. Reményi-Puskár Judit Bognár László (1958-) (idegsebész, gyermekidegsebész)
Pályázati támogatás:KTIA_13-NPA-A-V/3
Egyéb
KTIA_13-NPA-A-II/7
Egyéb
TÁMOP-4.2.2.A-11/1/KONV-2012-0025
TÁMOP
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9.

001-es BibID:BIBFORM062271
Első szerző:Klekner Álmos (idegsebész)
Cím:Expression pattern of invasion-related molecules in the peritumoral brain / Álmos Klekner, Gábor Hutóczki, József Virga, Judit Reményi-Puskár, Judit Tóth, Beáta Scholtz, Éva Csősz, Gergő Kalló, László Steiner, Tibor Hortobágyi, László Bognár
Dátum:2015
ISSN:0303-8467
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Clinical Neurology And Neurosurgery 139 (2015), p. 138-143. -
További szerzők:Hutóczki Gábor (1983-) (Ph.D. hallgató) Virga József (1989-) Reményi-Puskár Judit Tóth Judit (1958-) (onkológus szakorvos) Scholtz Beáta (1967-) (biokémikus, molekuláris biológus) Csősz Éva (1977-) (biokémikus, molekuláris biológus) Kalló Gergő (1989-) (molekuláris biológus) Steiner László Hortobágyi Tibor (1965-) (patológus) Bognár László (1958-) (idegsebész, gyermekidegsebész)
Pályázati támogatás:TÁMOP-4.2.2.A- 11/1/KONV-2012-0025
TÁMOP
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10.

001-es BibID:BIBFORM069028
Első szerző:Kovács G. Gábor
Cím:Multisite Assessment of Aging-Related Tau Astrogliopathy (ARTAG) / Gabor G. Kovacs, Sharon X. Xie, Edward B. Lee, John L. Robinson, Carrie Caswell, David J. Irwin, Jon B. Toledo, Victoria E. Johnson, Douglas H. Smith, Irina Alafuzoff, Johannes Attems, Janos Bencze, Kevin F. Bieniek, Eileen H. Bigio, Istvan Bodi, Herbert Budka, Dennis W. Dickson, Brittany N. Dugger, Charles Duyckaerts, Isidro Ferrer, Shelley L. Forrest, Ellen Gelpi, Stephen M. Gentleman, Giorgio Giaccone, Lea T. Grinberg, Glenda M. Halliday, Kimmo J. Hatanpaa, Patrick R. Hof, Monika Hofer, Tibor Hortobágyi, James W. Ironside, Andrew King, Julia Kofler, Enikö Kövari, Jillian J. Kril, Seth Love, Ian R. Mackenzie, Qinwen Mao, Radoslav Matej, Catriona McLean, David G. Munoz, Melissa E. Murray, Janna Neltner, Peter T. Nelson, Diane Ritchie, Roberta D. Rodriguez, Zdenek Rohan, Annemieke Rozemuller, Kenji Sakai, Christian Schultz, Danielle Seilhean, Vanessa Smith, Pawel Tacik, Hitoshi Takahashi, Masaki Takao, Dietmar Rudolf Thal, Serge Weis, Stephen B. Wharton, Charles L. White III, John M. Woulfe, Masahito Yamada, John Q. Trojanowski
Dátum:2017
Megjegyzések:Aging-related tau astrogliopathy (ARTAG) is a recently introduced terminology. To facilitate the consistent identification of ARTAG and to distinguish ARTAG from other main types of astroglial tau pathologies related to primary frontotemporal lobar degeneration-related tauopathies we evaluated how consistently neuropathologists recognize i) different astroglial tau immunoreactivities including those of ARTAG and those associated with primary tauopathies (study 1); ii) ARTAG subtypes (study 2A); and iii) the severity of ARTAG (study 2B). Microphotographs and scanned sections immunostained for AT8 tau were made available for download and preview. Percentage (%) of agreement and kappa values with 95% confidence interval (CI) were calculated for each evaluation. The overall agreement for study 1 was > 60% with a kappa value of 0.54 (95% CI 0.433-0.645). Moderate agreement (> 90%, kappa: 0.48, 95% CI 0.457-0.900) was reached in study 2A for the identification of ARTAG pathology for each ARTAG subtype (kappa: 0.37-0.71), whereas fair agreement (kappa: 0.39, 95% CI 0.341-0.445) was reached for the evaluation of ARTAG severity. The overall assessment of ARTAG showed moderate agreement (kappa: 0.59, 95% CI 0.534-0.653) between raters. Our study supports the application of the current harmonized evaluation strategy of ARTAG with a slight modification of the evaluation of its severity.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
aging
ARTAG
tau-astrogliopathy
digital pathology
interrater agreement
tau
neuropathology
Megjelenés:Journal of Neuropathology & Experimental Neurology 76 : 7 (2017), p. 605-619. -
További szerzők:Xie, Sharon X. Lee, Edward B. Robinson, John L. Caswell, Carrie Irwin, David J. Toledo, Jon B. Johnson, Victoria E. Smith, Douglas H. Alafuzoff, Irina Attems, Johannes Bencze János (1991-) (orvos) Bieniek, Kevin F. Bigio, Eileen H. Bódi István (1967-) (neuropatológus) Budka, Herbert Dickson, Dennis W. Dugger, Brittany N. Duyckaerts, Charles Ferrer, Isidro Forrest, Shelley L. Gelpi, Ellen Gentleman, Stephen Giaccone, Giorgio Grinberg, Lea T. Halliday, Glenda Hatanpaa, Kimmo J. Hof, Patrick R. Hofer, Monika Hortobágyi Tibor (1965-) (patológus) Ironside, James W. King, Andrew Kofler, Julia Kővári Enikő Kril, Jillian J. Love, Seth Mackenzie, Ian R. Mao, Qinwen Matej, Radoslav McLean, Catriona Munoz, David G. Murray, Melissa E. Neltner, Janna Nelson, Peter T. Ritchie, Diane Rodriguez, Roberta D. Rohan, Zdenek Rozemuller, Annemieke Sakai, Kenji Schultz, Christian Seilhean, Danielle Smith, Vanessa Tacik, Pawel Takahashi, Hitoshi Takao, Masaki Thal, Dietmar R. Weis, Serge Wharton, Stephen B. White III, Charles L. Woulfe, John M. Yamada, Masahito Trojanowski, John Q.
Pályázati támogatás:NAP_KTIA_13_NAP-A-II/7
MTA
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11.

001-es BibID:BIBFORM063679
Első szerző:Peters, Owen M.
Cím:Gamma-synuclein pathology in amyotrophic lateral sclerosis / Owen M. Peters, Tatyana Shelkovnikova, John Robin Highley, Johnathan Cooper-Knock, Tibor Hortobagyi, Claire Troakes, Natalia Ninkina1, Vladimir L. Buchman
Dátum:2015
ISSN:2328-9503
Megjegyzések:sclerosis (ALS) is the presence of intracellular inclusions in degenerating neuronsand their axons. The appearance and localization of these pathologicalstructures depend on an aggregated protein that forms their scaffold. We investigatedif c-synuclein, an aggregation-prone protein highly expressed in healthymotor neurons, and predominantly localized in their axons and synaptic terminalsis involved in ALS pathology. Methods: Immunostaining of histologicalsections and sequential protein extraction from postmortem neural samplesfollowed by immunoblotting. Results: Immunohistochemical screening revealeda subset of sporadic (9 of 31) and familial (8 of 23) ALS cases with a novel typeof pathology characterized by the accumulation of c-synuclein in distinctprofiles within the dorsolateral column. Sequential fractionation of proteinsfrom the spinal cord tissues revealed detergent-insoluble c-synuclein speciesspecifically in the dorsolateral corticospinal tracts of a ALS patient withc-synuclein-positive profiles in this region. These profiles are negative for proteinmarkers commonly found in pathological inclusions in the spinal cord ofALS patients and most probably represent degenerated axons of upper motorneurons that have lost their neurofilaments. A subset of these profiles wasfound in association with phagocytic cells positive for Mac-2/Galectin-3. Asmaller subset of studied ALS cases (4 of 54) contained large cytoplasmic inclusionsin the cell body of remaining spinal motor neurons. Interpretation: Ourobservations suggest that pathological aggregation of c-synuclein might contributeto the pathogenesis of ALS.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Annals of Clinical and Translational Neurology. - 2 : 1 (2015), p. 29-37. -
További szerzők:Shelkovnikova, Tatyana Highley, John Robin Cooper-Knock, Johnathan Hortobágyi Tibor (1965-) (patológus) Troakes, Claire Ninkina, Natalia Buchman, Vladimir L.
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12.

001-es BibID:BIBFORM020051
Első szerző:Szabó Nóra
Cím:Pontocerebellar hypoplasia type 1 / Nóra Szabó, Hajnalka Szabó, Tibor Hortobágyi, Sándor Túri, László Sztriha
Dátum:2008
ISSN:0887-8994
Megjegyzések:Pontocerebellar hypoplasias are heterogeneous disorders that share a reduction in the size of brainstem and cerebellum. We describe a patient with features of the rare combination of pontocerebellar hypoplasia and spinal motor neuron disease. Parental consanguinity, low Apgar scores, facial weakness, dysphagia, tongue fasciculations, stridor, generalized hypotonia, severe muscle weakness, areflexia, and congenital joint contractures were evident. Cranial magnetic resonance imaging revealed a small cerebellum and brainstem, and a muscle biopsy revealed neurogenic changes. These abnormalities suggested pontocerebellar hypoplasia type 1.
Tárgyszavak:Orvostudományok Klinikai orvostudományok esettanulmány
Megjelenés:Pediatric Neurology. - 39 : 4 (2008), p. 286-288. -
További szerzők:Szabó Hajnalka Hortobágyi Tibor (1965-) (patológus) Túri Sándor (gyermekorvos, nephrológus) Sztriha László
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