Zobrazeno 1 - 10
of 275
pro vyhledávání: '"Judy Savige"'
Autor:
Joseph Phillipos, Thao Vi Luong, Deborah Chang, Suresh Varadarajan, Paul Howat, Lauren Hodgson, Deb Colville, Judy Savige
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
BackgroundGestational diabetes, pregnancy-associated hypertension and small-for-gestational age babies are all associated with impaired placental vascularisation. This study compared the effects of these conditions the systemic small vessel calibre t
Externí odkaz:
https://doaj.org/article/61370d5768c84b6d8647c2f536854fb0
Autor:
P. Harraka, Tony Wightman, Sarah Akom, Kieran Sandhu, Deb Colville, Andrew Catran, David Langsford, Timothy Pianta, David Barit, Frank Ierino, Alison Skene, Heather Mack, Judy Savige
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
Abstract Drusen are retinal deposits comprising cell debris, immune material and complement that are characteristic of macular degeneration but also found in glomerulonephritis. This was a pilot cross-sectional study to determine how often drusen occ
Externí odkaz:
https://doaj.org/article/40b660803bfa4f1585347f37ceace109
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-7 (2022)
Abstract Retinal microvascular calibre has been proposed as a predictor of cardiac events. Surgery is a major stimulus for inflammation which potentially affects small vessel calibre. This study examined the effects of surgery on retinal, and thus sy
Externí odkaz:
https://doaj.org/article/391eb9aa6e044c8d9caa9fcfa5357f25
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
Abstract Hypertensive microvascular disease is associated with an increased risk of diastolic heart failure, vascular dementia and progressive renal impairment. This study examined whether individuals with obstructive sleep apnoea (OSA) had more reti
Externí odkaz:
https://doaj.org/article/28742abbfad348f1851dffc1300bd75f
Autor:
Judy Savige, B. André Weinstock
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
Previously, genetic kidney disease was often recognised when family members shared clinical features. Now, many genetic kidney diseases are diagnosed when testing demonstrates a pathogenic variant in a gene associated with the disease. Detection of a
Externí odkaz:
https://doaj.org/article/545f4d9ac3bc45219aef7a1c7e5bc43b
Autor:
Joel T. Gibson, Omid Sadeghi-Alavijeh, Daniel P. Gale, Hansjörg Rothe, Genomics England Research Consortium, Judy Savige
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract X-linked Alport syndrome is a genetic kidney disease caused by pathogenic COL4A5 variants, but little is known of the consequences of missense variants affecting the NC1 domain of the corresponding collagen IV α5 chain. This study examined
Externí odkaz:
https://doaj.org/article/96c0043e8d0a42569e1be2e4cd114cf7
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract Retinal drusen are characteristic of macular degeneration and complement activation, but also occur in C3, lupus and IgA nephropathy. This cross-sectional observational study compared drusen counts in different forms of glomerulonephritis. C
Externí odkaz:
https://doaj.org/article/a1a3f230d9dd4beaa23d140a7f234b88
Autor:
Pavlina Plevova, Jana Indrakova, Judy Savige, Petra Kuhnova, Petra Tvrda, Dita Cerna, Sarka Hilscherova, Monika Kudrejova, Daniela Polendova, Radka Jaklova, Martina Langova, Helena Jahnova, Jana Lastuvkova, Jiri Dusek, Josef Gut, Marketa Vlckova, Pavla Solarova, Gabriela Kreckova, Eva Kantorova, Jana Soukalova, Rastislav Slavkovsky, Jana Zapletalova, Tomas Tichy, Dana Thomasova
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
IntroductionRomani people have a high prevalence of kidney failure. This study examined a Romani cohort for pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes that are affected in Alport syndrome (AS), a common cause of genetic kidney diseas
Externí odkaz:
https://doaj.org/article/a61fd3b445844401ac3d8d045e9d77aa
Publikováno v:
Kidney International Reports, Vol 7, Iss 2, Pp 339-342 (2022)
Externí odkaz:
https://doaj.org/article/0abf4cf5d24a4a8b8b6595688ff7d11f
Autor:
Joel T. Gibson, Mary Huang, Marina Shenelli Croos Dabrera, Krushnam Shukla, Hansjörg Rothe, Pascale Hilbert, Constantinos Deltas, Helen Storey, Beata S. Lipska-Ziętkiewicz, Melanie M. Y. Chan, Omid Sadeghi-Alavijeh, Daniel P. Gale, Genomics England Research Consortium, Agne Cerkauskaite, Judy Savige
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
Abstract Alport syndrome is the commonest inherited kidney disease and nearly half the pathogenic variants in the COL4A3–COL4A5 genes that cause Alport syndrome result in Gly substitutions. This study examined the molecular characteristics of Gly s
Externí odkaz:
https://doaj.org/article/864c1ed9fcad4e3fa88284e259fc2a5f