Results 121 to 130 of about 7,541,678 (261)

Characterization of Monogenic Kidney Disease in Older Patients With CKD

Kidney International Reports
Introduction: Although 10% of adults with chronic kidney disease (CKD) have a monogenic cause, the characteristics of monogenic CKD in older adults (aged ≥ 60 years) are less characterized.
Elhussein A.E. Elhassan, Sarah Cormican, Shohdan M. Osman, Sahin Sarihan, Omri Teltsh, Fergus E. Poynton, Matthew D. Griffin, Liam Casserly, Emma McCann, Anthony J. Bleyer, Sr., Stanislav Kmoch, Martina Živná, Katherine A. Benson, Gianpiero L. Cavalleri, Peter J. Conlon   +14 more
doaj   +1 more source

Real‐World Safety and Effectiveness of JAK Inhibitors in Systemic Sclerosis: A Propensity‐Matched Study From the EUSTAR Cohort

Arthritis Care &Research, EarlyView.
Objective JAK inhibitors (JAKi) have shown promising effects in early‐phase studies of systemic sclerosis (SSc). We aimed to assess the safety and explore the effectiveness of JAKi compared to conventional immunosuppressants in SSc. Methods A longitudinal retrospective study of the European Scleroderma Trials and Research Group (EUSTAR) cohort was ...
Stefano Di Donato, Marie‐Elise Truchetet, Marco Minerba, Oliver Distler, Juan José Alegre Sancho, Yolanda Braun‐Moscovici, Christina Bergmann, Petros Sfikakis, Jeska K. de Vries‐Bouwstra, Murray Baron, Silvia Bellando‐Randone, Lorenzo Dagna, Christopher P. Denton, Madelon C. Vonk, Vanessa Smith, Ivan Castellvi, Gabriela Riemekasten, Andra Balanescu, Masataka Kuwana, Maria De Santis, Kamal Solanki, Anastas Batalov, Vahan Mukuchyan, Marco Matucci‐Cerinic, Yannick Allanore, Francesco Del Galdo, Michael Hughes, EUSTAR Collaborators   +27 more
wiley   +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

Determinants of Body Mass Index in Early Systemic Sclerosis: Implications for Nutritional Risk Stratification

Arthritis Care &Research, EarlyView.
Objective Gastrointestinal (GI) involvement can lead to malnutrition in patients with systemic sclerosis (SSc). Body mass index (BMI) remains the most widely used marker to screen nutritional status. We aimed to identify predictors of lower BMI in patients with SSc. Methods Patients with SSc from a prospective US cohort meeting 2013 American College of
Ali Y. Ayla, Meng Zhang, Bingrui Chen, Claudia Pedroza, Brian Skaug, Maureen Mayes, Michael Hughes, Shervin Assassi, Zsuzsanna H. McMahan   +8 more
wiley   +1 more source

Genetic Counseling Polycystic Kidney Disease

, 2014
This paper, after a review of modern genetic counseling, its objectives and methods, reveals the results of a study of polycystic kidney, a hereditary disease. The study was conducted in Hawaii, on the islands of Maui and Oahu.
Chinn, Patricia
core  

Genetic and Developmental Factors in Chronic Kidney Disease Hotspots

, 2019
Chronic kidney disease increasingly is being recognized as an important global public health problem. Interindividual susceptibility to kidney disease is high and likely is dependent on risk modulation through genetics, fetal and early childhood ...
Friedman, David, Luyckx, Valerie A; https://orcid.org/, Friedman D, Luyckx VA   +3 more
core   +1 more source

Association of Elevated Platelets and C‐Reactive Protein With Severe Disease and Poor Survival in Systemic Sclerosis

Arthritis Care &Research, EarlyView.
Objective Elevated C‐reactive protein (CRP) levels in systemic sclerosis (SSc) have been linked with severe disease and worse survival, but the role of platelet levels remains unclear. This study examined whether elevated platelet levels, CRP levels, or both are associated with disease severity, progression, and survival in SSc.
Brian S. Lee, Shufeng Li, Srijana Davuluri, Jennifer Lee, Lorinda Chung   +4 more
wiley   +1 more source

Development of a Disease Activity Index for the Assessment of VEXAS Syndrome (VEXAS‐DAI)

Arthritis Care &Research, EarlyView.
Objective Vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS) syndrome is characterized by a complex spectrum of inflammatory and hematologic manifestations. Clinical research to identify effective therapies is urgently needed but is hindered by the lack of validated outcome measures.
Kevin Byram, Heřman Mann, Danielle Hammond, Onima Chowdhury, Sinisa Savic, Yohei Kirino, Carmelo Gurnari, Maël Heiblig, Thibault Comont, Arsène Mekinian, Mrinal M. Patnaik, Lachelle D. Weeks, Gary Ho, Adam Al‐Hakim, Scott Goldberg, Marcela A. Ferrada, Sophie Georgin‐Lavialle, Peter C. Grayson, Emma M. Groarke, Bhavisha Patel, Megan Sullivan, Sarah A. Buckley, Bryan G. Harder, Raman Garcha, David B. Beck, Matthew J. Koster   +25 more
wiley   +1 more source

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

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