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The future of siRNA-mediated approaches to treat von Willebrand disease.
Expert Rev Hematol
January 2025
Department of Internal Medicine, Division of Thrombosis and Hemostasis, Einthoven Laboratory for Vascular and Regenerative Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Introduction: The clinical management of the inherited bleeding disorder von Willebrand disease (VWD) focuses on normalizing circulating levels of von Willebrand factor (VWF) and factor VIII (FVIII) to prevent or control bleeding events. The heterogeneous nature of VWD, however, complicates effective disease management and development of universal treatment guidelines.
Areas Covered: The current treatment modalities of VWD and their limitations are described and why this prompts the development of new treatment approaches.
Central and nephrogenic diabetes insipidus: updates on diagnosis and management.
Front Endocrinol (Lausanne)
January 2025
Department of Endocrinology, Walter Reed National Military Medical Center, Bethesda, MD, United States.
Diabetes insipidus (DI) is a rare endocrine disease involving antidiuretic hormone (ADH), encompassing both central and nephrogenic causes. Inability to respond to or produce ADH leads to inability of the kidneys to reabsorb water, resulting in hypotonic polyuria and, if lack of hydration, hypernatremia. DI cannot be cured and is an unfamiliar disease process to many clinicians.
View Article and Find Full Text PDFDiagnosis of arginine vasopressin deficiency in a patient with 10 years of polyuria and polydipsia following an Epstein-Barr virus infection.
BMJ Case Rep
January 2025
Biochemistry, North West Anglia NHS Foundation Trust, Peterborough, UK.
Polyuria-polydipsia syndrome is composed of arginine vasopressin deficiency, arginine vasopressin resistance and primary polydipsia and are characterised by severe polyuria with hypotonic urine. The water deprivation test is commonly used to indirectly assess the vasopressin response to water deprivation. We report a woman in her 20s who demonstrated severe polyuria (11-12 L/day) on submitting a 24-hour urine sample for analysis.
View Article and Find Full Text PDF[Lower urinary tract dysfunction in children].
Urologie
January 2025
Klinik für Urologie und Kinderurologie, Uniklinik RWTH Aachen, Pauwelsstr. 30, 52074, Aachen, Deutschland.
Lower urinary tract dysfunction (LUTD) is common in children and can significantly impact the quality of life in affected children and their families. This article provides a comprehensive overview of the causes, diagnostics, and treatment, with a particular focus on nonorganic urinary incontinence and nocturnal enuresis. Accurate diagnostics are essential to differentiate between organic and functional causes, as well as to distinguish primary from secondary forms of urinary incontinence.
View Article and Find Full Text PDFArginine vasopressin and angiotensin II coregulate Aquaporin 2 expression in M-1 cells.
Biochem Biophys Res Commun
January 2025
School of Pharmacy, Anhui University of Chinese Medicine, Hefei, China; Anhui Provincial Key Laboratory of Chinese Medicinal Formula, Hefei, China; Institute for Pharmacodynamics and Safety Evaluation of Chinese Medicine, Anhui Academy of Chinese Medicine, Hefei, China. Electronic address:
Objective: The aim of this study was to explore the impact of arginine vasopressin (AVP) and angiotensin II (Ang II) on aquaporin 2 (AQP2) expression in M - 1 cells.
Methods: M - 1 cells were stimulated with desmopressin (dDAVP) and Ang II, followed by treatment with tolvaptan and losartan. The expression and protein levels of V2R, AT1R, AQP2, and p-S256AQP2 were measured via ELISA, western blotting, RT-qPCR, and immunofluorescence.
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