Pkd2 dosage influences cellular repair responses following ischemia-reperfusion injury [PDF]
, 2009 Autosomal dominant polycystic kidney disease (ADPKD) results from mutations in either PKD1 or PKD2 and accounts for 10% of all patients on renal replacement therapy. The kidney disease phenotype is primarily characterized by cyst formation, but there are
Haylor, J.L. +4 more
core +2 more sources
Journal of Medical Case Reports, 2019 Background Autosomal dominant polycystic kidney disease is defined as an inherited disorder characterized by renal cyst formation due to mutations in the PKD1 or PKD2 gene, whereas tuberous sclerosis complex is an autosomal dominant neurocutaneous ...
Kenji Gonda +15 more
doaj +1 more source
Cardiac Involvement in Autosomal Dominant Polycystic Kidney Disease
Cardiogenetics, 2021 Cardiovascular disorders are the main complication in autosomal dominant polycystic kidney disease (ADPKD). contributing to both morbidity and mortality.
Letizia Spinelli +2 more
doaj +1 more source
Effect of Heterogeneous Mixing and Vaccination on the Dynamics of Anthelmintic Resistance: A Nested Model [PDF]
Sabatelli L (2010) Effect of Heterogeneous Mixing and Vaccination
on the Dynamics of Anthelmintic Resistance: A Nested Model. PLoS ONE 5(5):
e10686. doi:10.1371/journal.pone.0010686, 2010 Anthelmintic resistance is a major threat to current measures for helminth control in humans and animals. The introduction of anthelmintic vaccines, as a complement to or replacement for drug treatments, has been advocated as a preventive measure. Here, a computer-based simulation, tracking the dynamics of hosts, parasites and parasite-genes, shows ...
arxiv +1 more source
Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy [PDF]
Parkinsonism and Related Disorders, Elsevier, 45, pp.85-89 (2017), 2020 BACKGROUND: Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare conditions in which relatively isolated cerebellar involvement is frequently associated with cognitive impairment. Here, we report on new clinical features and provide details of the cognitive profile in two SCA19/22 families.METHODS: Two families displaying an autosomal-dominant ...
arxiv +1 more source
Urinary proteomics using capillary electrophoresis coupled to mass spectrometry for diagnosis and prognosis in kidney diseases [PDF]
, 2016 Purpose of review: Urine is the most useful of body fluids for biomarker research. Therefore, we have focused on urinary proteomics, using capillary electrophoresis coupled to mass spectrometry, to investigate kidney diseases in recent years.
Magalhães, Pedro +2 more
core +1 more source
Tolvaptan: a possible preemptive treatment option in children with autosomal dominant polycystic kidney disease? [PDF]
Childhood Kidney Diseases, 2023 Tolvaptan is a highly selective vasopressin receptor 2 antagonist that regulates cyclic adenosine monophosphate levels to inhibit both epithelial cell proliferation and chloride ion excretion, two mechanisms known to induce cyst expansion in autosomal ...
Hee Sun Beak, Min Hyun Cho
doaj +1 more source
Deep Learning for Polycystic Kidney Disease: Utilizing Neural Networks for Accurate and Early Detection through Gene Expression Analysis [PDF]
arXiv, 2023 With Polycystic Kidney Disease (PKD) potentially leading to fatal complications in patients due to the formation of cysts in kidneys, early detection of PKD is crucial for effective management of the condition. However, the various patient-specific factors that play a role in the diagnosis make it an intricate puzzle for clinicians to solve, leading to
arxiv
Modeling Vascular Branching Alterations in Polycystic Kidney Disease [PDF]
arXiv, 2022 The analysis of biological networks encompasses a wide variety of fields from genomic research of protein-protein interaction networks, to the physiological study of biologically optimized tree-like vascular networks. It is certain that different biological networks have different optimization criteria and we are interested in those networks optimized ...
arxiv
Educational Case: Autosomal Dominant Polycystic Kidney Disease
Academic Pathology, 2020 The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology.
Ryan L. Frazier BS +1 more
doaj +1 more source