Results 41 to 50 of about 255,080 (253)

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Prevention of Peritonitis in Peritoneal Dialysis [PDF]

Seminars in Dialysis, 2013
Abstract Reducing the frequency of peritonitis for patients undergoing peritoneal dialysis ( PD ) continues to be a challenge. This review focuses on recent updates in catheter care and other patient factors that influence infection rates.
Segal, Jonathan H., Messana, Joseph M.
openaire   +3 more sources

Age‐related differences in hydroxychloroquine‐associated adverse events: A pharmacovigilance study based on the FDA Adverse Event Reporting System

British Journal of Clinical Pharmacology, EarlyView.
Aims This real‐world pharmacovigilance study utilizes FDA Adverse Event Reporting System (FAERS) data (2004–2024) to characterize age‐related disparities in hydroxychloroquine (HCQ)‐associated adverse events (AEs), addressing gaps in age‐stratified risk assessment. Methods Disproportionality analysis (reporting odds ratios, RORs) and parametric Weibull
Guanghan Sun, Jingrong Yang, Lei Wan, Xia Xu, Jing Wang   +4 more
wiley   +1 more source

Extracellular Vesicles‐Based Biological Macromolecule Delivery Systems: Biogenesis, Characterization, and Emerging Clinical Applications

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Extracellular vesicles (EVs) are nanoscale membrane‐bound structures that play a pivotal role in intercellular communication by transporting bioactive molecules, including proteins, lipids, nucleic acids, and organelles, between cells. Originating from the endosomal pathway, EVs reflect the physiological and pathological status of their parent
Emine İncilay Torunoğlu, Zeynep Betül Sarı, Muhammed Emin Sarı, Erdi Can Aytar   +3 more
wiley   +1 more source

MELD score predicts outcomes in patients with advanced heart failure: A longitudinal evaluation

ESC Heart Failure, Volume 12, Issue 2, Page 839-847, April 2025.
Abstract Aims Advanced heart failure (AHF) is characterized by recurrent episodes of haemodynamic instability and frequent hospitalizations, leading to a progressive decline in quality of life and high mortality rates. The objectives of this study were to evaluate the effect of the model for end‐stage liver disease (MELD) score and its variations in ...
Francesco Curcio, Cristiano Amarelli, Rosaria Chiappetti, Irene Mattucci, Veronica Flocco, Mahmoud Issa Rammal, Ciro Abete, Francesca Mazzella, Ciro Maiello, Pasquale Abete, Francesco Cacciatore   +10 more
wiley   +1 more source

Plasma vaspin levels and clinical outcome in incident peritoneal dialysis patients

BMC Nephrology, 2023
Background Vaspin is an adipokine that regulates glucose and lipid metabolism. Plasma vaspin level is increased in chronic kidney disease but decreased in hemodialysis patients.
Win Hlaing Than, Gordon Chun-Kau Chan, Bonnie Ching-Ha Kwan, Ka-Bik Lai, Ronald Cheong-Kin Chan, Jeromy Yuen Chun Teoh, Jack Kit-Chung Ng, Winston Wing-Shing Fung, Kai-Ming Chow, Phyllis Mei-Shan Cheng, Philip Kam-Tao Li, Cheuk-Chun Szeto   +11 more
doaj   +1 more source

Left atrial function in uraemic patients: Four‐dimensional automatic left atrial quantitative technology study

ESC Heart Failure, Volume 12, Issue 2, Page 1316-1325, April 2025.
Abstract Objective This study aimed to evaluate the utility of left atrial volume and function in uraemic patients using four‐dimensional automatic left atrial quantification (4D auto LAQ) technology. Methods Thirty‐four undialysed uraemic patients (U‐ND group), 60 dialysed uraemic patients (U‐D group), and 32 healthy volunteers (N group) were enrolled
Bing Li, Meihua Chen, Xuning Huang
wiley   +1 more source

The effect of SGLT2 inhibitor and HIF-PHI on the podocyte-specific molecules and cytoskeleton of diabetic podocytes

BMC Nephrology
Background Sodium-glucose cotransporter 2 inhibitors (SGLT2i) and hypoxia-inducible factor prolyl hydroxylase inhibitors (HIF-PHI) have pleiotropic properties that may affect glomerular podocytes.
Chuanlei Li, Jack K. C. Ng, Gordon C. K. Chan, Winston W. S. Fung, Kai-Ming Chow, Cheuk-Chun Szeto   +5 more
doaj   +1 more source

Abdominal POCUS Education for Clinicians: A Systematic Review of Teaching Methods for Point‐of‐Care Abdominal Ultrasonography

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 547-561, March/April 2025.
For patients to benefit from abdominal point‐of‐care ultrasound, the ultrasound examinator must be sufficiently trained. In this systematic review, we identified advantages and disadvantages of different training methods and approaches. We conclude that thoughtful integration of the various educational methods is crucial for stakeholders and educators.
Birkir Örn Sveinsson, Olof Kristin Thorsteinsdottir, Alexander G. P. Browne, Benjamin S. B. Rasmussen, Anders Bo Nielsen, Pia Iben Pietersen   +5 more
wiley   +1 more source

Outcome in children on chronic peritoneal dialysis

, 2003
In this retrospective study, we evaluated the causative factors, outcomes, and complications of therapy in 35 patients (16 girls, 19 boys) started on chronic peritoneal dialysis (CPD) between 1997 and 2002.
Aladag, S., Dönmez, O., Cigerdelen, N., Kocak, S.   +3 more
core   +2 more sources