UCL University College London Eprints
(292.293 recursos)
UCL Eprints collects the work of UCL researchers and makes it freely available over the web, helping the worldwide scholarly community to discover UCL research. Institutional repositories like UCL Eprints complement the traditional academic publishing and scholarly communications processes. They raise the visibility of research and help to maximise its impact. UCL researchers are encouraged to deposit a copy of each journal article, conference paper, working paper, and any other research output, in the UCL Eprints at the earliest opportunity, ensuring that their research reaches as wide an audience as possible.
Mostrando recursos 1 - 20 de 291.227
1.
TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT. - Ling, H; Kara, E; Bandopadhyay, R; Hardy, J; Holton, J; Xiromerisiou, G; Lees, A; Houlden, H; Revesz, T
Leucine-rich repeat kinase 2 (LRRK2) mutation is the most common cause of genetic-related parkinsonism and is usually associated with Lewy body pathology; however, tau, α-synuclein, and ubiquitin pathologies have also been reported. We report the case of a patient carrying the LRRK2 G2019S mutation and a novel heterozygous variant c.370C>G, p.Q124E in exon 4 of the microtubule-associated protein tau (MAPT). The patient developed parkinsonism with good levodopa response in her 70s. Neuropathological analysis revealed nigral degeneration and Alzheimer-type tau pathology without Lewy bodies. Immunohistochemical staining using phospho-TDP-43 antibodies identified occasional TDP-43 pathology in the hippocampus, temporal neocortex, striatum, and substantia...
2.
Human pulmonary valve progenitor cells exhibit endothelial/mesenchymal plasticity in response to vascular endothelial growth factor-A and transforming growth factor-beta2. - Paruchuri, S; Yang, JH; Aikawa, E; Melero-Martin, JM; Khan, ZA; Loukogeorgakis, S; Schoen, FJ; Bischoff, J
In situ analysis of fetal semilunar valve leaflets has revealed cells coexpressing endothelial and mesenchymal markers along the endothelium, with diminished frequency seen in adult valves. To determine whether such cells are progenitor cells, we isolated clonal populations from human pulmonary valves. The clones expressed endothelial markers but showed potential to further differentiate into endothelium in response to vascular endothelial growth factor (VEGF)-A. When exposed to transforming growth factor (TGF)-beta2, individual clones adopted a mesenchymal phenotype to varying degrees and expressed markers of endothelial to mesenchymal transformation (EMT). Both VEGF- and TGFbeta2-induced phenotypic changes were partially reversible, indicating the plasticity...
4.
Validation of a device to measure arterial pulse wave velocity by a photoplethysmographic method. - Loukogeorgakis, S; Dawson, R; Phillips, N; Martyn, CN; Greenwald, SE
We aimed to validate a new method for measuring arterial pulsewave transit time and pulsewave velocity (a measure of arterial elasticity), based on the principle of photoplethysmography (PPG), and to compare transcutaneous values with those obtained by intra-arterial measurements. Three validation experiments are described. (a) PPG pulse wave delay times (defined as the time interval between the ECG R wave and the foot of the arterial pulse wave measured at the wrist or ankle) were compared to values obtained simultaneously from an established methodology (Doppler ultrasound). (b) Aortic pulsewave delay times in 17 subjects obtained non-invasively by the PPG method...
5.
The age and degree of diachroneity of India-Asia collision determined from the sedimentary record: a comparison of new evidence from the east (Tibet) and west (Ladakh) of the orogen - Najman, Y; BouDagher-Fadel, MK; et al,
The age and degree of diachroneity of India-Asia collision is critical to construction of models of orogenesis and to understanding the causes of spatial variations in Himalayan evolution along strike. The age of collision is quoted between 65-34 Ma (Jaeger et al 1989; Aitchison et al 2007) and the degree of dichroneity is considered negligible (Searle et al 1997) to substantial (Rowley 1998). We studied the youngest Tethyan succession in the east (Tingri, Tibet) and west (Ladakh, India) of the orogen and used two approaches to date collision: 1) timing of closure of Tethys, by dating the youngest marine strata...
6.
Ahmedabad - Manchester: Cotton exchange: a material response - Rideal, L
On the occasion of celebrating UNESCO World Heritage Day in Ahmedabad, Gujarat, India. Jointly funded by the Centre for Heritage Management, Ahmedabad University, Manchester Metropolitan University in association with National Textile Corporation Ltd. (A government of India Undertaking). An initiative towards documenting and research on the management of Industrial Heritage of India.
7.
Drop sari - Rideal, L
Selected in competition for the Delhi Film Festival
9.
Measurement of Tissue Interstitial Volume in Healthy Patients and Those with Amyloidosis with Equilibrium Contrast-enhanced MR Imaging. - Bandula, S; Banypersad, SM; Sado, D; Flett, AS; Punwani, S; Taylor, SA; Hawkins, PN; Moon, JC
Purpose:To investigate equilibrium contrast material-enhanced magnetic resonance (MR) imaging measurement of extracellular volume (ECV) fraction within healthy abdominal tissues and to test the hypotheses that tissue ECV in systemic amyloid light-chain (AL) amyloidosis is greater than in healthy patients and show that this increase correlates with organ amyloid burden.Materials and Methods:A local ethics committee approved the study and all patients gave written informed consent. Forty healthy volunteers (18 men, 22 women; median age, 43 years; age range, 24-88 years) and 67 patients with AL amyloidosis (43 men, 24 women; median age, 65 years; age range, 38-81 years) underwent equilibrium MR...
13.
Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita. - Aslan, D; Akata, RF; Holme, H; Vulliamy, T; Dokal, I
The aim of this study is to present the limbal stem cell deficiency (LSCD) cases with features resembling dyskeratosis congenita (DC), a heritable disease of stem cells principally caused by telomerase deficiency. The clinical, laboratory and molecular findings of four cases are presented. A complete systemic examination was performed in a standardized manner for each patient. Laboratory measurements included investigations of the tests used for screening DC. All eight known disease-causing genes in DC (DKC1, TERC, TERT, NOP10, NHP2, TINF2, C16orf57, and TCAB1) were screened for mutations. The family members of the cases were also assessed, when possible. In all...
15.
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia. - Holme, H; Hossain, U; Kirwan, M; Walne, A; Vulliamy, T; Dokal, I
The myelodysplastic syndromes (MDS) are heterogeneous and can evolve into acute myeloid leukaemia (AML). Rare familial cases are reported in which five disease genes have been identified to date (RUNX1, CEBPA, TERC, TERT and GATA2). Here we report the genetic categorization of 27 families with familial MDS/AML. All of these families were screened for RUNX1, CEBPA, TERC, TERT and GATA2 as well as TET2 and NPM1. Five of the 27 families had telomerase mutations; one had a RUNX1 mutation, while none were found to have TET2, CEBPA or NPM1 mutations. We identified four families with heterozygous GATA2 mutations, each associated...
16.
Corynebacterium pseudodiphtheriticum septic arthritis secondary to intra-articular injection--a case report and literature review. - Erturan, G; Holme, H; Iyer, S
This is believed to be the first report of a case of septic arthritis, secondary to intra-articular injection, caused by Corynebacterium pseudodiphtheriticum - a skin commensal micro-organism. Review of the literature highlights the rarity of this pathogen in osteoarticular infections and a potential for delayed diagnosis and inadequate treatment due to subtle initial presentation.
19.
Paediatric presentation of familial cerebral cavernoma. - Holme, H; Nanduri, V
We report the case of a 13-year-old male who presented with headaches and was presumed to have a brain tumour. He was subsequently found to have multiple cerebral cavernomas with haemorrhage and positive family history. We review the literature on familial cavernomas. Cerebral cavernous malformations (CCMs) are characterized by abnormally enlarged capillary cavities without intervening brain parenchyma [Verlaan et al. Neurology 2005; 65:1982-1983] that may involve any part of the central nervous system. Focal neurologic deficit and haemorrhage occur in 45% of children, higher than in adults [Stoeter. Neurosurg Rev 2001; 24]. Paediatric patients with symptomatic cavernous malformations should be...
20.
Measurement of Neutrino and Antineutrino Oscillations Using Beam and Atmospheric Data in MINOS - Collaboration, MINOS; Adamson, P; Anghel, I; Backhouse, C; Barr, G; Bishai, M; Blake, A; Bock, GJ; Bogert, D; Cao, SV; Castromonte, CM; Childress, S; Coelho, JAB; Corwin, L; Cronin-Hennessy, D; Jong, JKD; Devan, AV; Devenish, NE; Diwan, MV; Escobar, CO; Evans, JJ; Falk, E; Feldman, GJ; Frohne, MV; Gallagher, HR; Gomes, RA; Goodman, MC; Gouffon, P; Graf, N; Gran, R; Grzelak, K; Habig, A; Hahn, SR; Hartnell, J; Hatcher, R; Himmel, A; Holin, A; Hylen, J; Irwin, GM; Isvan, Z; James, C; Jensen, D; Kafka, T; Kasahara, SMS; Koizumi, G; Kordosky, M; Kreymer, A; Lang, K; Ling, J; Litchfield, PJ; Lucas, P; Mann, WA; Marshak, ML; Mathis, M; Mayer, N; McGowan, AM; Medeiros, MM; Mehdiyev, R; Meier, JR; Messier, MD; Michael, DG; Miller, WH; Mishra, SR; Sher, SM; Moore, CD; Mualem, L; Musser, J; Naples, D; Nelson, JK; Newman, HB; Nichol, RJ; Nowak, JA; O'Connor, J; Oliver, WP; Orchanian, M; Pahlka, RB; Paley, J; Patterson, RB; Pawloski, G; Phan-Budd, S; Plunkett, RK; Qiu, X; Radovic, A; Rebel, B; Rosenfeld, C; Rubin, HA; Sanchez, MC; Schneps, J; Schreckenberger, A; Schreiner, P; Sharma, R; Sousa, A; Tagg, N; Talaga, RL; Thomas, J; Thomson, MA; Tinti, G; Tognini, SC; Toner, R; Torretta, D; Tzanakos, G; Urheim, J; Vahle, P; Viren, B; Weber, A; Webb, RC; White, C; Whitehead, L; Whitehead, LH; Wojcicki, SG; Zwaska, R
We report measurements of oscillation parameters from $\nu_{mu}$ and $\bar{\nu}_{\mu}$ disappearance using beam and atmospheric data from MINOS. The data comprise exposures of \unit[$10.71 \times 10^{20}$]{protons on target (POT)} in the $\nu_{\mu}$-dominated beam, $\unit[3.36\times10^{20}]{POT}}$ in the $\bar{\nu}_{\mu}$-enhanced beam, and 37.88 kton-years of atmospheric neutrinos. Assuming identical $\nu$ and $\bar{\nu}$ oscillation parameters, we measure \mbox{$|\Delta m^2}| = \unit[2.41^{+0.09}_{-0.10}) \times 10^{-3}]{eV^{2}}$} and $\sin^{2}/!/left(2\theta \right) = 0.950^{+0.035}_{-0.036}$. Allowing independent $\nu$ and $\bar{\nu}$ oscillations, we measure antineutrino parameters of $|\Delta \bar{m}^2| = \unit[(2.50 ^{+0.23}_{-0.25}) \times 10^{-3}]{eV^{2}}$ and $\sin^{2}/!/left(2\bar{\theta} \right) = 0.97^{+0.03}_{-0.08}$, with minimal change to the neutrino parameters.
1.
