Results 51 to 60 of about 5,140 (180)

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Paediatric renal transplantation: Paediatric surgeons' perspective

Surgical Practice, Volume 30, Issue 2, Page 117-122, May 2026.
Abstract Renal transplantation is the most effective treatment for paediatric end‐stage renal disease (ESRD), offering advantages in survival, growth and neurocognitive development that surpass other renal replacement therapies (RRT). The paediatric setting, however, introduces distinct complexities that distinguish it from adult practice.
Adrian Chi‐heng Fung, Mary Kim Elizabeth Tan Cudia, Ivy Hau‐yee Chan, Kenneth Kak‐yuen Wong   +3 more
wiley   +1 more source

Expression of heterologous oxalate decarboxylase in HEK293 cells confers protection against oxalate induced oxidative stress as a therapeutic approach for calcium oxalate stone disease

Journal of Enzyme Inhibition and Medicinal Chemistry, 2017
Oxalates stimulate alterations in renal epithelial cells and thereby induce calcium oxalate (CaOx) stone formation. Bacillus subtilis YvrK gene encodes for oxalate decarboxylase (OxdC) which degrades oxalate to formate and CO2.
Abhishek Albert, Vidhi Tiwari, Eldho Paul, Divya Ganesan, Mahesh Ayyavu, Ritu Kujur, Sasikumar Ponnusamy, Kathiresan Shanmugam, Luciano Saso, Selvam Govindan Sadasivam   +9 more
doaj   +1 more source

Nephroprotective Effect of Pleurotus ostreatus and Agaricus bisporus Extracts and Carvedilol on Ethylene Glycol-Induced Urolithiasis: Roles of NF-κB, p53, Bcl-2, Bax and Bak

Biomolecules, 2020
This study was designed to assess the nephroprotective effects of Pleurotus ostreatus and Agaricus bisporus aqueous extracts and carvedilol on hyperoxaluria-induced urolithiasis and to scrutinize the possible roles of NF-κB, p53, Bcl-2, Bax and Bak ...
Osama M. Ahmed, Hossam Ebaid, El-Shaymaa El-Nahass, Mahmoud Ragab, Ibrahim M. Alhazza   +4 more
doaj   +1 more source

A Case Study and Review of the Literature on IgA Nephropathy in Crohn's Disease

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT IgA nephropathy (IgAN) is the most frequently reported glomerular disease associated with inflammatory bowel disease (IBD), particularly Crohn's disease (CD), although pediatric cases remain rare. We report IgAN in a 16‐year‐old male with CD following intestinal surgery and during long‐term infliximab therapy, with renal impairment occurring ...
Giovanna Fernanda Vazzana, Alessia Romano, Chiara Casuscelli, Alberto La Spada, Domenico Santoro, Roberto Chimenz, Claudio Romano   +6 more
wiley   +1 more source

GENDER AND AGE DISTRIBUTION, AND URINARY METABOLIC ABNORMALITIES IN PATIENTS WITH RECURRENT URINARY TRACT STONES

Gomal Journal of Medical Sciences, 2015
Background: Urolithiasis is one of the most common urological disorders. Patients with recurrent urinary tract stones may have underlying metabolic abnormality. The objectives of this study were to determine the gender and age distribution, and frequency
Muhammad Naeem, Tariq Ahmad, Muhammad Kamran Khan, Hazrat Ullah   +3 more
doaj  

Palmar papules as a manifestation of cutaneous oxalosis in primary hyperoxaluria: A case report and review of the literature

Clinical Case Reports
Key Clinical Message Cutaneous oxalosis is a rare manifestation of systemic oxalosis, typically associated with primary or secondary hyperoxaluria. We present a rare case of a 23‐year‐old female diagnosed with primary hyperoxaluria and end‐stage renal ...
Hadi Alabdullah, Jameel Soqia, Thaer Douri   +2 more
doaj   +1 more source

Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria

Kidney International Reports
Introduction: Newborn screening (NBS) programs for a defined set of eligible diseases have been enormously successful, but genomic NBS allowing for detection of additional treatable disorders has not been broadly implemented.
Bernd Hoppe, Cristina Martin-Higueras, Lodovica Borghese, Sophie Kaspar, Björn Reusch, Bodo B. Beck, Adam Walli, Ella Janzen, Sebastian Hegert, Nils Janzen, Katharina Hohenfellner   +10 more
doaj   +1 more source

Micronutrients in Future Diets: Considerations for Dietary Iron and the Food Matrix Effects on Bioavailability

Molecular Nutrition &Food Research, Volume 70, Issue 8, 27 April 2026.
Optimising food and ingredient formulations accounting for the food matrix and potential impacts on iron bioavailability can support nutritional adequacy and warrants consideration to ensure future foods are both healthy and sustainable. ABSTRACT Adequate nutrition is an essential contributor to improved health, longevity, and quality of life in the ...
Prachi Punetha, Tom F. O'Callaghan, Elaine K. McCarthy   +2 more
wiley   +1 more source

Nephrolithiasis in a Second Renal Allograft Recipient: A Rare Cause of Graft Dysfunction [PDF]

Journal of Clinical and Diagnostic Research
Renal allograft nephrolithiasis is an uncommon but clinically significant complication which may compromise graft function. While structural and infective factors are well recognised, metabolic abnormalities such as hyperoxaluria and hypocitraturia are ...
Aalaya Haridas , Manikantan Shekar, Rama Venkateshprasad, Ameya Chogle, Sanketh Nethula   +4 more
doaj   +1 more source