Results 51 to 60 of about 4,332 (175)

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

Gut microbiota modulation via fecal microbiota transplantation mitigates hyperoxaluria and calcium oxalate crystal depositions induced by high oxalate diet

Gut Microbes
Hyperoxaluria, including primary and secondary hyperoxaluria, is a disorder characterized by increased urinary oxalate excretion and could lead to recurrent calcium oxalate kidney stones, nephrocalcinosis and eventually end stage renal disease.
Lingyue An, Shujue Li, Zhenglin Chang, Min Lei, Zhican He, Peng Xu, Shike Zhang, Zheng Jiang, Muhammad Sarfaraz Iqbal, Xinyuan Sun, Hongxing Liu, Xiaolu Duan, Wenqi Wu   +12 more
doaj   +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

Primary hyperoxaluria type 1 in Tunisian children

Saudi Journal of Kidney Diseases and Transplantation, 2012
To determine the clinical, biological, and radiological futures of primary hyper-oxaluria type 1 in Tunisian children, we retrospectively studied 44 children with primary hyper-oxaluria type 1 who were treated in our center from 1995 to 2009.
Tahar Gargah, Nourchene Khelil, Gharbi Youssef, Wiem Karoui, Mohamed Rachid Lakhoua, Jaouida Abdelmoula   +5 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

Combined liver-kidney transplant in a 21-month-old child with type 1 primary hyperoxaluria—The perioperative challenges

Indian Journal of Anaesthesia, 2020
Primary hyperoxaluria type 1(PH 1) is the most common indication for a paediatric combined liver-kidney transplant. It is a technically challenging procedure. We describe the challenges in managing a 21-month-old female child weighing 7 kg for a combined
Nidhin Eldo, Sangeeth P Srinivasan, Nisha Rajmohan, Mathew Jacob   +3 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

The Importance of Detecting the Signs of Primary Hyperoxaluria—Cardiac Oxalosis in Primary Hyperoxaluria Type 1

Annals of Internal Medicine: Clinical Cases
A 27-year-old man presented with influenza-like symptoms and rapidly progressing respiratory failure requiring mechanical ventilation and venovenous extracorporeal membrane oxygenation on the day of admission.
Salmina J. Guivala, Panagiotis Xynogalos, Bernd Hoppe, Pamela M. Okun, Maja Hempel, Bodo Beck, Christian Nusshag, Norbert Frey, Philipp Schlegel   +8 more
doaj   +1 more source

Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature review

Brazilian Journal of Nephrology
Primary hyperoxaluria (PH) is a very rare genetic disorder; it is characterized by total or partial deficiency of the enzymes related to the metabolism of glyoxylate, with an overproduction of calcium oxalate that is deposited in different organs, mainly
John Fredy Nieto Rios, Monica Zuluaga, Lina Maria Serna Higuita, Adriana Florez, Diana Carolina Bello-Marquez, Arbey Aristizábal, Catalina Ocampo Kohn, Gustavo Adolfo Zuluaga   +7 more
doaj   +1 more source

Systemic Oxalosis in Infants: Two Cases and Literature Review

Turkish Journal of Nephrology, 2019
The infantile form of primary hyperoxaluria is a very rare disease and often presents as a lifethreatening condition because of rapid progression to end-stage renal disease and systemic oxalosis.
Zübeyde GÜNDÜZ, Funda BAŞTUĞ, Sebahat TÜLPAR, Hakan POYRAZOĞLU, Hülya AKGÜN, Ruhan DÜŞÜNSEL   +5 more
doaj