Results 11 to 20 of about 586,059 (333)
Phenotypic continuum of NFU1‐related disorders
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022 Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov +45 more
wiley +1 more source
Can transplant renal scintigraphy predict the duration of delayed graft function? A dual center retrospective study. [PDF]
PLoS ONE, 2018 This study focused on the value of quantitatively analyzed and qualitatively graded renal scintigraphy in relation to the expected duration of delayed graft function after kidney transplantation.
Stan Benjamens +6 more
doaj +1 more source
Indian Journal of Transplantation, 2023 Introduction: Exponential increase in the number of chronic kidney disease cases and shortage of living renal donors have increased the demand of deceased donor renal transplant (DDRT) in India.
Dilip Kumar Pal, Partha Pratim Sinha Roy
doaj +1 more source
The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022 Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee +16 more
wiley +1 more source
The influence of delayed graft function [PDF]
Nephrology Dialysis Transplantation, 2004 We study the incidence of delayed graft function (DGF) in a group of 3365 renal transplant recipient patients from various Spanish centres, its clinical consequences, and the evolution in time (transplants performed in 1990, 1994 and 1998) of the factors that determine its presence.
Ricard Sola +3 more
openaire +2 more sources
Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1999-2009, December 2022., 2022 Abstract Objectives Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre‐symptomatic disease stages, these typical MRI changes might be absent, hampering early diagnosis.
Daphne H. Schoenmakers +7 more
wiley +1 more source
Delayed Graft Function and the Risk for Death with a Functioning Graft [PDF]
Journal of the American Society of Nephrology, 2010 Delayed graft function (DGF) associates with an increased risk for graft failure, but its link with death with graft function (DWGF) is unknown. We used the US Renal Data System to assemble a cohort of all first, adult, deceased-donor kidney transplant recipients from January 1, 1998, through December 31, 2004.
Edward H. Cole +6 more
openaire +2 more sources
A molecular signature for delayed graft function [PDF]
Aging Cell, 2018 AbstractChronic kidney disease and associated comorbidities (diabetes, cardiovascular diseases) manifest with an accelerated ageing phenotype, leading ultimately to organ failure and renal replacement therapy. This process can be modulated by epigenetic and environmental factors which promote loss of physiological function and resilience to stress ...
Paul G. Shiels +11 more
openaire +4 more sources
Delayed Graft Function in the Kidney Transplant [PDF]
American Journal of Transplantation, 2011 Acute kidney injury occurs with kidney transplantation and too frequently progresses to the clinical diagnosis of delayed graft function (DGF). Poor kidney function in the first week of graft life is detrimental to the longevity of the allograft. Challenges to understand the root cause of DGF include several pathologic contributors derived from the ...
Daniel C. Brennan +2 more
openaire +2 more sources
Impact of intra-abdominal pressure on early kidney transplant outcomes
Scientific Reports, 2022 Increased intra-abdominal pressure (IAP) is common among post-surgical patients and may cause organ dysfunction. However, its impact after kidney transplantation on early postoperative complications and graft recovery remains unclear.
Armando Coca +11 more
doaj +1 more source