Results 41 to 50 of about 6,262,677 (213)

Rapidly Progressive Glomerulonephritis in Autosomal Dominant Polycystic Kidney Disease

, 2015
Patients with autosomal dominant polycystic kidney disease (ADPKD) can suffer from the same causes of acute kidney injury as the general population. Affected individuals may present with hematuria and proteinuria (usually less than 1g/day).

core   +1 more source

Ciliary Membrane Lipid Homeostasis in Health and Disease

Advanced Science, EarlyView.
This review systematically delineates the distinct lipid landscapes of ciliary membranes, including the spatial organization of phosphoinositides, cholesterol, and sphingolipids. It elucidates how these lipids orchestrate ciliogenesis, signal transduction, and membrane dynamics in cilia beating, and highlights how their dysregulation drives ...
Zhenzhou Huang, Yuan‐yuan Liu, Hanqi Sun, Peiwei Liu   +3 more
wiley   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Compartmentalisation in cAMP signalling: A phase separation perspective

British Journal of Pharmacology, EarlyView.
Cells rely on precise spatiotemporal control of signalling pathways to ensure functional specificity. The compartmentalisation of cyclic AMP (cAMP) and protein kinase A (PKA) signalling enables distinct cellular responses within a crowded cytoplasmic space.
Milda Folkmanaite, Manuela Zaccolo
wiley   +1 more source

The Pathogenesis of Autosomal Dominant Polycystic Kidney Disease [PDF]

Nephron Experimental Nephrology, 2006
In individuals with autosomal dominant polycystic kidney disease (ADPKD), renal function deteriorates as the kidneys become replaced by multitudes of fluid-filled cysts. Although the PKD genes were identified a decade ago, the pathway(s) leading from mutation to disease remain the subject of intense investigation.
openaire   +2 more sources

Internal Jugular Vein as an Alternative Access for Pacemaker Implantation: A Mostly Left IJ Case Series

Pacing and Clinical Electrophysiology, EarlyView.
ABSTRACT Background Leadless pacemakers traditionally rely on femoral venous access, which may be limited in patients with unfavorable IVC anatomy, prior interventions, or situations where preserving femoral access is preferred. Internal jugular (IJ) access offers an alternative route, but real‐world data on IJ implantation of single‐ and dual‐chamber ...
Maya Asami Takagi, William Leon, Colin Mackenzie, Daniel Cortez   +3 more
wiley   +1 more source

Hypertension in Autosomal Dominant Polycystic Kidney Disease [PDF]

Advances in Chronic Kidney Disease, 2010
Hypertension is common and occurs in a majority of autosomal dominant polycystic kidney disease (ADPKD) patients before the loss of kidney function. Hypertension relates to progressive kidney enlargement and is a significant independent risk factor for progression to ESRD.
Arlene B, Chapman, Konrad, Stepniakowski, Frederic, Rahbari-Oskoui   +2 more
openaire   +2 more sources

Autosomal Dominant Polycystic Kidney Disease: Review and Management Update [PDF]

, 2014
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited nephropathy. Initially, it is characterised by the growth of renal cysts. Later, progressive deterioration of renal function determines the prognosis of ADPKD, depending on
Víctor Martínez
core  

Reno-appendiceal fistula in autosomal dominant polycystic kidney disease

Urology Case Reports, 2021
We present a very rare Case of a 53-year-old female with autosomal dominant polycystic kidney disease (ADPKD) who was incidentally found to have a reno-appendiceal fistula while undergoing open bilateral nephrectomy.
Madison S. Hill, Natalia Arias Villela, John C. LaMattina, Yvonne M. Rasko, Michael W. Phelan   +4 more
doaj   +1 more source

Empowering women at the heart of autosomal dominant polycystic kidney disease: Addressing unique challenges gender-sensitive approach

Women's Health
Autosomal dominant polycystic kidney disease is a genetic disorder characterized by the progressive development of renal cysts, leading to end-stage renal disease in a significant proportion of affected individuals. While the disease affects both men and
Micaela Petrone, Francesca Tunesi, Martina Catania, Camilla Gerosa, Sara Farinone, Liliana Italia De Rosa, Kristiana Kola, Matteo Brambilla Pisoni, Paola Maiucchi, Paolo Manunta, Giuseppe Vezzoli, Maria Teresa Sciarrone Alibrandi   +11 more
doaj   +1 more source