Results 131 to 140 of about 628,301 (302)

All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency

Scientific Reports
The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat involved, the cells that are most expansion prone and the extent of expansion.
Bruce Hayward, Daman Kumari, Saikat Santra, Clara D. M. van Karnebeek, André B. P. van Kuilenburg, Karen Usdin   +5 more
doaj   +1 more source

Bridging the Gap in Genomic Implementation: Identifying User Needs for Precision Nephrology

Kidney International Reports
Introduction: Genomic medicine holds transformative potential for personalized nephrology care; however, its clinical integration poses challenges. Automated clinical decision support (CDS) systems in the electronic health record (EHR) offer a promising ...
Jerard Z. Kneifati-Hayek, Teena Zachariah, Wooin Ahn, Atlas Khan, Krzysztof Kiryluk, Sumit Mohan, Chunhua Weng, Ali G. Gharavi, Jordan G. Nestor   +8 more
doaj   +1 more source

Real‐World Longitudinal Data on the Impact of Hydroxychloroquine Blood Level Monitoring on Lupus Outcomes: Results of a Prospective Longitudinal Cohort Study

Arthritis Care &Research, EarlyView.
Objective Hydroxychloroquine (HCQ) is a cornerstone therapy in systemic lupus erythematosus (SLE), but the weight‐based dosing does not account for clinical factors that can introduce individual variability in drug metabolism and clearance. We leveraged longitudinal data from a prospective SLE cohort to identify clinical factors that predict ...
Jay J. Patel, Fauzia Hollangel, Caroline Packee, Amita Kapoor, Brad Rovin, Nathalie Costedoat‐Chalumeau, Shivani Garg   +6 more
wiley   +1 more source

Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring

Orphanet Journal of Rare Diseases
Background The growing body of research on kidney disease in children has identified a broad spectrum of genetic etiologies. Methods We conducted a prospective study to evaluate the efficacy of an optimized genetic test and subclinical changes in a real ...
Yonghua Feng, Shicheng Xu, Yi Feng, Na Zhao, Linan Xu, Ye Fang, Hongen Xu, Lu Mao, Zhigang Wang, Jiancheng Guo, Guiwen Feng, Jia Rao, Wenjun Shang   +12 more
doaj   +1 more source

Safety of Prescription Nonsteroidal Anti‐inflammatory Drugs in Adults With Inflammatory Bowel Disease: Data From a Large Administrative Claims Cohort

Arthritis Care &Research, EarlyView.
Objective The concern that nonsteroidal anti‐inflammatory drugs (NSAIDs) may precipitate flares of inflammatory bowel disease (IBD) has limited their use in managing musculoskeletal symptoms in those with IBD, but safety data are mixed. Methods This retrospective cohort study included patients with IBD aged at least 18 years from Optum's deidentified ...
Adam S. Mayer, Rui Xiao, Meenakshi Bewtra, Michael D. George, Pamela F. Weiss   +4 more
wiley   +1 more source

Clinical, histological, and serological predictors of renal function loss in lupus nephritis.

Arthritis Care &Research, Accepted Article.
Objective Kidney survival is the ultimate goal in lupus nephritis (LN) management, but long‐term predictors remain inadequately studied, requiring long‐term follow‐up. This study aimed to identify baseline and early longitudinal predictors of kidney survival in the Accelerating Medicines Partnership LN longitudinal cohort.
Shangzhu Zhang, Laurence Magder, Daniel Goldman, Judith A. James, Joel M Guthridge, Carla Guthridge, Peter Izmirly, Jill P Buyon, H.Michael Belmont, Richard A. Furie, Noa Schwartz, Chaim Putterman, Jennifer L. Barnas, Jennifer H. Anolik, Sarah French, Maria Dall'era, Avi Z. Rosenberg, Jeffrey Hodgin, Dawit S. Demeke, the Accelerating Medicines Partnership RA/SLE Network, Michelle Petri, Andrea Fava   +21 more
wiley   +1 more source

Pain and Health-Related Quality of Life in Autosomal Dominant Polycystic Kidney Disease: Results from a National Patient-Powered Registry

Kidney Medicine
Rationale & Objective: Autosomal dominant polycystic kidney disease (ADPKD) affects health-related quality of life (HRQoL) including pain, discomfort, fatigue, emotional distress, and impaired mobility.
Elise Hoover, Vanessa Holliday, Nicole Merullo, Dorothee Oberdhan, Ronald D. Perrone, Chris Rusconi, Meyeon Park, Milind A. Phadnis, Nadeesha Thewarapperuma, Neera K. Dahl   +9 more
doaj   +1 more source

Preimplantation Genetic Testing for Genetic Kidney Disease: Addressing Moral Uncertainties and Access Inequity. [PDF]

Clin J Am Soc Nephrol, 2020
Burke W, West KM.
europepmc   +1 more source

Perceived Impacts and Predictors of Cannabis Products used by Rheumatology Patients in Alberta: A Multivariable Analysis of Cross‐sectional Survey Data

Arthritis Care &Research, Accepted Article.
Objective This study aimed to characterize cannabis product choices (cannabinoid content and formulation) among rheumatology patients, and their associations with patient factors, patient reported perceived side effects and positive impacts. Methods An online survey (delivered from March to November 2022) was distributed by Alberta Health Services to ...
Susan Zhang, Samuel A.J. Lowe, Frank Sun, Allyson Jones, Tarek Turk, Joanne Olson, Pauline Paul, Shelby Yamamoto, Linda Kolewaski, Elaine Yacyshyn, Cheryl A. Sadowski   +10 more
wiley   +1 more source

Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease. [PDF]

Kidney360, 2020
Wilson PC, Love-Gregory L, Corliss M, McNulty S, Heusel JW, Gaut JP.   +5 more
europepmc   +1 more source