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Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis.
Mol Med
January 2025
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Background: Lysinuric protein intolerance is a rare autosomal disorder caused by mutations in the Slc7a7 gene that lead to impaired transport of neutral and basic amino acids. The gold standard treatment for lysinuric protein intolerance involves a low-protein diet and citrulline supplementation. While this approach partially improves cationic amino acid plasma levels and alleviates some symptoms, long-term treatment is suggested to be detrimental and may lead to life-threatening complications characterized by a wide range of hematological and immunological abnormalities.
View Article and Find Full Text PDFPhenotypic outcomes of PKD1 compared with non-PKD1 genetically confirmed autosomal dominant polycystic kidney disease.
J Nephrol
January 2025
Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland.
Background: Autosomal Dominant Polycystic Kidney Disease (ADPKD) represents the most common monogenic cause of kidney failure. While identifying genetic variants predicts disease progression, characterization of recently described ADPKD-like variants is limited. We explored disease progression and genetic spectrum of genetically-confirmed ADPKD families with PKD1 and non-PKD1 variants.
View Article and Find Full Text PDFPosterior urethral valves: Examining the relationship of socioeconomic factors in disease presentation and progression.
J Pediatr Urol
January 2025
Division of Pediatric Urology, Department of Urology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Introduction: A significant portion of posterior urethral valve patients continue to progress to end stage renal disease despite improvements in medical care. Socioeconomic status has been connected to various healthcare outcomes but has not been evaluated in relation to longitudinal outcomes of posterior urethral valves.
Objective: To evaluate the effect of socioeconomic status on the progression to renal failure among patients with posterior urethral valves.
Vasoplegia in Heart, Lung, or Liver Transplantation: A Narrative Review.
J Cardiothorac Vasc Anesth
January 2025
Department of Anesthesia, Critical Care, and Pain Medicine, Massachusetts General Hospital, Boston, MA.
Vasoplegia is a pathophysiologic state of hypotension in the setting of normal or high cardiac output and low systemic vascular resistance despite euvolemia and high-dose vasoconstrictors. Vasoplegia in heart, lung, or liver transplantation is of particular interest because it is common (approximately 29%, 28%, and 11%, respectively), is associated with adverse outcomes, and because the agents used to treat vasoplegia can affect immunosuppressive and other drug metabolism. This narrative review discusses the pathophysiology, risk factors, and treatment of vasoplegia in patients undergoing heart, lung, and liver transplantation.
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