Diagnostic utility of clinicodemographic, biochemical and metabolite variables to identify viable pregnancies in a symptomatic cohort during early gestation

Autor: Christopher J. Hill, Marie M. Phelan, Philip J. Dutton, Paula Busuulwa, Alison Maclean, Andrew S. Davison, Josephine A. Drury, Nicola Tempest, Andrew W. Horne, Eva Caamaño Gutiérrez, Dharani K. Hapangama

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)

Abstract A significant number of pregnancies are lost in the first trimester and 1–2% are ectopic pregnancies (EPs). Early pregnancy loss in general can cause significant morbidity with bleeding or infection, while EPs are the leading cause of mate

Externí odkaz: https://doaj.org/article/1c884d8295224599943b76824990b61d

Increased prevalence of Parkinson's disease in alkaptonuria

Autor: Lakshminarayan Ranganath, Milad Khedr, Anna M. Milan, Andrew S. Davison, Brendan P. Norman, Mirian C. H. Janssen, Edward Lock, George Bou‐Gharios, James A. Gallagher

Publikováno v: JIMD Reports, Vol 64, Iss 4, Pp 282-292 (2023)

Abstract Amongst a cohort of 88 alkaptonuria (AKU) patients attending the United Kingdom National Alkaptonuria Centre (NAC), four unrelated patients had co‐existing Parkinson's disease (PD). Two of the NAC patients developed PD before receiving nit

Externí odkaz: https://doaj.org/article/2188354befc3468c8d09344499520849

Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism

Autor: Brendan P. Norman, Andrew S. Davison, Juliette H. Hughes, Hazel Sutherland, Peter JM. Wilson, Neil G. Berry, Andrew T. Hughes, Anna M. Milan, Jonathan C. Jarvis, Norman B. Roberts, Lakshminarayan R. Ranganath, George Bou-Gharios, James A. Gallagher

Publikováno v: Genes and Diseases, Vol 9, Iss 4, Pp 1129-1142 (2022)

Alkaptonuria (AKU) is an inherited disorder of tyrosine metabolism caused by lack of active enzyme homogentisate 1,2-dioxygenase (HGD). The primary consequence of HGD deficiency is increased circulating homogentisic acid (HGA), the main agent in the

Externí odkaz: https://doaj.org/article/957bdcfaa6bb4d9d97d9bf338e2f3358

Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre

Autor: Lakshminarayan R. Ranganath, Anna M. Milan, Andrew T. Hughes, Milad Khedr, Andrew S. Davison, Peter J. Wilson, Jane P. Dillon, Elizabeth West, James A. Gallagher

Publikováno v: JIMD Reports, Vol 55, Iss 1, Pp 75-87 (2020)

Abstract Background Increased homogentisic acid (HGA) causes ochronosis. Nitisinone decreases HGA. The aim was to study the effect of nitisinone on the ochronosis progression. Methods Photographs of the eyes and ears were acquired from patients atten

Externí odkaz: https://doaj.org/article/39244242ead74ac28b7788233f948751

Outcomes after perioperative SARS-CoV-2 infection in patients with proximal femoral fractures: an international cohort study

Autor: T Richards, S Shaikh, S Rehman, A Khan, J Shah, C Smith, A Brown, S Singh, A P Arnaud, A Young, D Bowen, P Patel, S Williams, J Dunn, J John, M Loubani, A Hainsworth, A Kolias, PJ Hutchinson, R Singh, S Sinha, S Shaw, J Edwards, S Mukherjee, AAB Jamjoom, A Singh, S Saeed, J Martin, S Smith, S Ross, M Mohan, P Hutchinson, G James, RDC Moon, P Brennan, A Williams, S Brown, A Ward, M Lee, K Thompson, S Ali, J Williams, S Reid, U Khan, J Lambert, A Smith, B Singh, M Hassan, N Sharma, J Reynolds, N Wright, T Williams, H Smith, M Ng, M Rahman, A Taylor, P Shah, D Saxena, J Evans, I Omar, M Ali, A Hanson, Z Li, R Andrade, P Cardoso, H Jeong, P Sharma, M Arrieta, J Clark, L Pearce, J McVeigh, V Sharma, B Kim, J Singh, S Newman, J Byrne, A Hassan, A Persad, A Gardner, H Liu, K Shah, I Hughes, S Davison, A Balakrishnan, K Patel, J Hall, S Mistry, J Parry, R Baumber, N McGrath, E Ross, R Mannion, S Murphy, FL Wright, A Rogers, B Rai, M Thomas, R Ribeiro, E Hamilton, J Teixeira, B Davidson, L Carvalho, R Garrido, A Puppo, A Guimarães, E Santos, M Kamal, M Denning, M Elhadi, J E Fitzgerald, D Miller, M Gowda, C Morris, A Phillips, H Yang, Y Zhang, N Machairas, A Fisher, A Kaufmann, A Aggarwal, L Hansen, M Otify, H Soleymani Majd, A Jones, M Rodrigues, S Sundar, C Jones, R Edmondson, A Sharkey, L Smith, G Williams, J Dunning, E Belcher, D Stavroulias, V Zamvar, M Patel, M Baker, R Evans, M Sherif, J Hopkins, R Mohammed, A Hill, H Jackson, G Jones, K George, J Dixon, A Tong, S Jallad, Deborah S Keller, A Pereira, L Elliott, D Ford, A Sermon, M Almond, Andrew Metcalfe, C Peluso, T White, S Shah, A Witek, Chetan Khatri, A Tiwari, T Lo, K Agarwal, C Sweeney, C Hart, T Holme, S Green, I Ahmed, A Sobti, C Anderson, N Modi, R Campbell, C Magee, M Mirza, D Jones, N Stylianides, X Luo, C Kang, J Ribeiro, L Kumar, J Diaz, A Bhalla, R Young, C Perkins, A James, A Walters, J Reid, R Pereira, C McDonald, A Aujayeb, K Jackson, M Allen, D Ghosh, M Chan, C Price, K Khan, R Moore, M Ibrahim, A Marchbank, M Silva, M Baig, J De Coster, J Castellanos, S Saxena, M Duque, E Li, E Martin, A Isik, J González, RJ Davies, B Smith, R Owen, K Lakhoo, M Rogers, MA Akhtar, K Mellor, S Agrawal, L Foster, G Harris, J McIntyre, M Garner, R West, R Cuthbert, D Johnson, H Gomes, C Roy, N Spencer, D Mehta, J Freedman, J Blair, K Rajput, K Williams, J Wall, A Soliman, F Chen, A Mokhtari, I Mohamed, J Pascoe, M Khalifa, R Das, A Lara, M Costa, A Mahmoud, K Roberts, J Lane, S Robertson, J P Evans, E Krishnan, I Haq, S Rogers, J Knowles, M Chowdhury, A Ghanbari, L Macdonald, S Powell, J Hunt, J Cornish, J Engel, S Page, I Blake, A Rolls, H Ross, D Simpson, J Hammond, A Goyal, K Parkins, A Desai, A Gaunt, A Salim, Y Yousef, A Schache, H Mohan, SR Brown, R Nair, M Flatman, J Lord, RJ Egan, R Harries, N Judkins, K Sugand, T Hine, J Luck, C Johnson, G Salerno, AW Phillips, R Houston, A Volpe, C Walker, C Steele, M Rela, C Barry, R Alves, L Ramsay, A Turnbull, A Daniele, C S Jones, P Gallagher, G Gradinariu, A Oliveira, C Hardie, H Ferguson, S Bhattacharya, E Davies, P Joshi, C Mellor, E Griffiths, A Bhangu, R Mahoney, F Kashora, G Ruiz, K Wong, G Hill, V Testa, S Ford, C Park, P Gomez, C Lopes, A Lázaro, A Shabana, A Agarwal, C Chung, C Politis, G Martin, E Chung, M Ismail, C Cunha, S Correia, I Santos, A Tang, A Robson, T Collier, G Baltazar, M Quintana, C English, M Ip, K Newton, J Kahn, C Tan, D Cheng, R Woods, M Ho, A ABBAS, A Henry, F Rivas, M Mohammed, N Parsons, T Board, S Madan, A Osorio, M Jarvis, M Hashem, A Egglestone, E Halliday, A Ridgway, G Gallo, J Gilliland, W Marx, R Shaw, A Mahmood, K Gohil, B Gallagher, D Alderson, A Karim, G D Stewart, G Peck, L Majkowski, J Carter, H Ishii, L HUMPHREYS, J Khan, S Abbott, C Newton, F Borghi, A Sud, K Bhatia, H Cao, V Vijay, L Sanderson, E Holler, N Hanna, D Ferguson, P Miranda, L Pickering, T Singhal, T Newman, K Ghosh, C Camacho, D Manning, C Lipede, R Clifford, S Higgs, C Menakaya, S Shankar, K Booth, M Abdalla, T Nelson, T Farrell, H Naseem, J Johnstone, A Wilkins, A Brunt, A Nogués, A Patience, D Jeevan, M Vatish, G Stables, S Adegbola, I Hunt, K Dickson, W Matthews, N Dunne, M Maher, G Faulkner, E Hernandez, R Sofat, K Sahnan, A Brunelli, M Raza, K Chui, C Brennan, P Vaughan, H Chu, R Hagger, ASD Liyanage, R Perkins, S Duff, C Gill, H Dean, S Bandyopadhyay, K Ragupathy, Y Cunningham, A Bateman, V Brown, B Ho, E Britton, H Ikram, R Hasan, A Colquhoun, S Handa, A Maqsood, M Caputo, J Torkington, G Fusai, N Hossain, DJ Lin, S Stefan, IR Daniels, D Pournaras, A Askari, P Nisar, S Moug, J Sagar, N Yassin, G Minto, Z Hamady, JR O'Neill, S Chowdhury, R Cresner, D Vimalachandran, FD Mcdermott, RP Jones, P Zerbib, L Sreedharan, S Wahed, SS Gisbertz, MI van Berge Henegouwen, R Preece, I Liew, S McCluney, D Watts, D Nehra, B Dean, D Chaudhry, L Ross, F Solari, S Chatterji, B Barmayehvar, S Lourenco, L Onos, F Mansour, A Radhakrishnan, M Varcada, M Richmond, I Hernández, A Spinelli, H Pham, J Shalhoub, F Wells, K Bevan, A Peckham-Cooper, N Campain, J Steinke, R Wilkin, K McEvoy, S Mastoridis, N Fine, J Bayer, Y Joshi, A Yener, S C McKay, NS Kalson, S Horvath, H Fu, A Parente, SE Lewis, Y Ahmad, G Seidel, M Dunstan, U von Oppell, J Vatish, H Hirsch, K Breen, C Dott, D Mathieu, J Hardie, K Aldridge, A Doorgakant, P Petrone, R Tansey, M El Amrani, C Branco, Y Viswanath, A Meagher, B Keeler, N Tewari, A Gabr, J Kinross, M Longhi, E M Harrison, P Daliya, P Asaad, F Langlands, N Misra, S Kristinsson, S Di Saverio, C Conso, H Roy, E Massie, L Masterson, D Baskaran, A Hannah, O Ismail, S URBAN, J Domenech, S Ranjit, L Massey, S Mannan, D Rutherford, F Colombo, R Kulkarni, D Kearney, Neil J Smart, G Bourke, D Shrestha, P Nankivell, O Breik, R Exley, D Zakai, AK Abou-Foul, P Naredla, R Vidya, G Mundy, H Marin, A E Ward, A Sudarsanam, W Singleton, M Ganau, F Moura, J Blanco, R Myatt, S Sousa, H Zahid, S Garrido, A Fell, E Caruana, D Nepogodiev, F Dhaif, B Bankhad-Kendall, H Kaafarani, C Bretherton, L Marais, K Siaw-Acheampong, B E Dawson, J C Glasbey, R R Gujjuri, E Heritage, S K Kamarajah, J M Keatley, S Lawday, G Pellino, J F F Simoes, I M Trout, M L Venn, R J W Wilkin, A O Ademuyiwa, E Al Ameer, O Alser, K M Augestad, B Bankhead-Kendall, R A Benson, S Chakrabortee, R Blanco-Colino, A Brar, A Minaya Bravo, K A Breen, I Lima Buarque, M F Cunha, G H Davidson, S Farik, M Fiore, G M A Gomes, C Halkias, I Lawani, H Lederhuber, S Leventoglu, M W Loffler, H Mashbari, D Mazingi, D Moszkowicz, J S Ng-Kamstra, S Metallidis, M Niquen, F Ntirenganya, O Outani, F Pata, T D Pinkney, P Pockney, D Radenkovic, A Ramos-De la Medina, A Schnitzbauer, S Shu, K Soreide, S Tabiri, P Townend, G Tsoulfas, G van Ramshorst, Mak JKC, F Tirotta, A Kisiel, LD Cato, AM Pathanki, A Chebaro, K Lecolle, S Truant, FR Pruvot, E Surmei, L Mattei, J Dudek, S El-Hasani, J Cuschieri, GH Davidson, RG Wade, H Elkadi, C Pompili, JR Burke, E Bagouri, Z Abual-Rub, S Munot, M Kowal, SC Winter, F Di Chiara, K Wallwork, A Qureishi, M Lami, S Sravanam, S Chidambaram, R Smillie, AV Shaw, C Cernei, D Jeyaretna, RJ Piper, E Duck, C Jelley, SC Tucker, G Bond-Smith, XL Griffin, GD Tebala, N Neal, TM Noton, H Ghattaura, OBF Risk, H Kharkar, C Verberne, A Senent-Boza, A Sánchez-Arteaga, I Benítez-Linero, F Manresa-Manresa, L Tallón-Aguilar, L Melero-Cortés, MR Fernández-Marín, VM Durán-Muñoz-Cruzado, I Ramallo-Solís, P Beltrán-Miranda, F Pareja-Ciuró, BT Antón-Eguía, AC Dawson, A Drane, F Oliva Mompean, J Gomez-Rosado, J Reguera-Rosal, J Valdes-Hernandez, L Capitan-Morales, del Toro Lopez, A Alanbuki, O Usman, AJ Beamish, D Bosanquet, D Magowan, H Nassa, G Mccabe, D Holroyd, NB Jamieson, NM Mariani, V Nicastro, D Motter, C Jenvey, T Minto, DR Sarma, C Godbole, W Carlos, A Khajuria, H Connolly, G Di Taranto, S Shanbhag, J Skillman, M Sait, H Al-omishy, B Heer, R Lunevicius, ARG Sheel, M Sundhu, AJA Santini, Fathelbab MSAT, KMA Hussein, QM Nunes, K Shahzad, Baig MMAS, JL Hughes, A Kattakayam, SB Shah, 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Santos Carregal, MI Rodriguez Fernandez, M Freijeiro, S El Drubi Vega, J Van den Eynde, W Oosterlinck, R Van den Eynde, A Boeckxstaens, A Cordonnier, J Jaekers, M Miserez, M Galipienso Eri, JD Garcia Montesino, J Dellonder Frigolé, D Noriego Muñoz, V Lizzi, F Vovola, A Arminio, A Cotoia, AL Sarni, M Bekheit, BS Kamera, M Elhusseini, A Ahmeidat, W Cymes, G Mignot, J Agilinko, A Sgrò, MM Rashid, K Milne, KE Stewart, MSJ Wilson, K McGivern, BC Brown, B Wadham, IA Aneke, J Collis, H Warburton, DM Fountain, R Laurente, KV Sigamoney, M Dasa, Z Naqui, M Galhoum, MT Hasan, R Kalenderov, O Pathmanaban, R Chelva, K Subba, M Khalefa, F Hossain, T Moores, J Anthoney, O Emmerson, R Makin-Taylor, CS Ong, R Callan, O Bloom, G Chauhan, J Kaur, A Burahee, S Bleibleh, N Pigadas, D Snee, S Bhasin, A Crichton, A Habeebullah, AS Bodla, M Mondragon, V Dewan, MC Giuffrida, A Marano, S Palagi, S Di Maria Grimaldi, A Simonato, M D'Agruma, R Chiarpenello, L Pellegrino, F Maione, D Cianflocca, Pruiti Ciarello, G 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P Martin Playa, A Gainza, EJ Aragon Achig, A Rodriguez Fraga, Melchor Corcóstegui, G Mallabiabarrena Ormaechea, JJ Garcia Gutierrez, L Barbier, MA Pesántez Peralta, M Jiménez Jiménez, JA Municio Martín, J Gómez Suárez, G García Operé, LA Pascua Gómez, M Oñate Aguirre, A Fernandez-Colorado, M De la Rosa-Estadella, A Gasulla-Rodriguez, M Serrano-Martin, A Peig-Font, S Junca-Marti, M Juarez-Pomes, S Garrido-Ondono, L Blasco-Torres, M Molina-Corbacho, Y Maldonado-Sotoca, A Gasset-Teixidor, J Blasco-Moreu, V Turrado-Rodriguez, AM Lacy, FB de Lacy, X Morales, A Carreras-Castañer, P Torner, M Jornet-Gibert, M Balaguer-Castro, M Renau-Cerrillo, P Camacho-Carrasco, M Vives-Barquiel, B Campuzano-Bitterling, I Gracia, R Pujol-Muncunill, M Estaire Gómez, D Padilla-Valverde, S Sánchez-García, D Sanchez-Pelaez, E Jimenez Higuera, R Picón Rodríguez, Fernández Camuñas À, C Martínez-Pinedo, EP Garcia Santos, V Muñoz-Atienza, A Moreno Pérez, CA Cano, D Crego-Vita, M Huecas-Martinez, A Roselló Añón, MJ 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Publikováno v: BMJ Open, Vol 11, Iss 11 (2021)

Objectives Studies have demonstrated high rates of mortality in people with proximal femoral fracture and SARS-CoV-2, but there is limited published data on the factors that influence mortality for clinicians to make informed treatment decisions. Thi

Externí odkaz: https://doaj.org/article/17d582d4e77546948b853d028b0f1db7