Results 31 to 40 of about 7,701 (216)

Primary Hyperoxaluria in Korean Pediatric Patients [PDF]

Childhood Kidney Diseases, 2019
Background Primary hyperoxaluria (PH), a rare inborn error of glyoxylate meta bolism causing overproduction of oxalate, is classified into three genetic subgroups: type 1–3 (PH1–PH3) caused by AGXT, GRHPR, and HOGA1 gene mutations, respectively.
Yunsoo Choe, Jiwon M. Lee, Ji Hyun Kim, Myung Hyun Cho, Seong Heon Kim, Joo Hoon Lee, Young Seo Park, Hee Gyung Kang, Il Soo Ha, Hae Il Cheong   +9 more
doaj   +1 more source

Metabolic diagnosis and medical prevention of calcium nephrolithiasis and its systemic manifestations: a consensus statement [PDF]

, 2016
Background: Recently published guidelines on the medical management of renal stone disease did not address relevant topics in the field of idiopathic calcium nephrolithiasis, which are important also for clinical research.
Bartoletti, R., Buchholz, N., Buchholz, N.N.-P. (Noor), Bushinsky, D., Bushinsky, D. (David), Capasso, G.B., Cicerello, E., Coe, F., Coe, F. (Fredric), Croppi, E. (Emanuele), Cupisti, A., Curhan, G.C., Curhan, G.C. (Gary C.), Desai, J., Fabris, A., Ferraro, P.M., Ferraro, P.M. (Pietro Manuel), Fuster, D., Fuster, D. (Daniel), Gambaro, G., Gambaro, G. (Giovanni), Goldfarb, D.S., Goldfarb, D.S. (David S.), Heilberg, I.P., Heilberg, I.P. (Ita Pfeferman), Hess, B., Hess, B. (Bernhard), Jaeger, P. (Ph), Kirkali, Z. (Ziya), Kok, D.J. (Dirk), Letavernier, E., Lieske, J., Lieske, J. (John), Lingeman, J., Lingeman, J. (James), Marangella, M., Marangella, M. (Martino), Mazzaferro, S., Milliner, D., Milliner, D. (Dawn), Moe, O., Moe, O. (Orson), Nouvenne, A., Preminger, G.M., Preminger, G.M. (Glen M.), Prie, D., Reis Santos, J., Reis Santos, J.M. (Jose’ Manuel), Rendina, D., Sakhaee, K. (Khashayar), Sarica, K., Sarica, K. (Kemal), Siener, R., Siener, R. (Roswitha), Soldati, L., Strazzullo, P., Strazzullo, P. (Pasquale), Tasca, A., Trinchieri, A., Vezzoli, G., Vitale, C., Williams, J.C., Williams, J.C. (James C.), Worcester, E., Worcester, E. (Elen), Wu, W.   +65 more
core   +3 more sources

Unusual cause of cerebral calcifications in an 8‐year‐old girl

Clinical Case Reports, 2023
Key Clinical Message Genetic counseling and genetic screening for hyperoxaluria should be recommended for children with urinary lithiasis for early management to avoid progression to oxalosis especially if there is a family history of lithiasis.
Abir Boussetta, Manel Jellouli, Rym Maamouri, Tahar Garagah   +3 more
doaj   +1 more source

Primary hyperparathyroidism can generate recurrent pancreatitis and secondary diabetes mellitus – A case report [PDF]

, 2019
Introduction. Acute or recurrent pancreatitis may be a complication of primary hyperparathyroidism and patients with previous episodes of pancreatitis may develop secondary diabetes mellitus. Case report.
Dănciulescu Miulescu, Rucsandra Elena, Guja, Loreta, Mîndrescu, Nicoleta, Văcaru, Georgeta, Ștefănescu, Emil   +4 more
core   +2 more sources

Formación de calculos renales de oxalato cálcico en mamíferos [PDF]

, 2010
Calcium oxalate (CaOx) is the main inorganic component of urolithiasis and is mainly present in the formation of kidney stones in humans. Additionally, oxalocalcic urolithiasis has become the most frequent type of kidney stones, for instance, oxalocalcic
Neira-Carrillo, Andrónico, Vásquez-Quitral, Patricio   +1 more
core   +2 more sources

A stone in the bone

JIMD Reports, 2021
Primary hyperoxaluria (PH) is a group of diseases due to mutations in genes coding for enzymes involved in oxalate metabolism. Three types of PH are identified depending on the gene mutated.
Matthieu Halfon, Pierre Cochat, Sebastien Kissling, Nicolas Dattner, Laurence deLeval, Fadi Fakhouri, Menno Pruijm, Olivier Bonny   +7 more
doaj   +1 more source

Mephrolithiasis as a common urinary system manifestation of inflammatory bowel diseases; a clinical review and meta-analysis [PDF]

, 2017
The extra-intestinal manifestations of inflammatory bowel disease (IBD) are common and involve other organs or systems for example; urinary system. Evidence Acquisitions: For this review, we used a variety of sources by searching through Web of Science ...
Ganji-Arjenaki, M., Nasri, H., Rafieian-Kopaei, M.   +2 more
core   +2 more sources

More Than a Question of Correlation: Characterization of the Evidentiary Basis for Biomarker Surrogates Used in European Marketing Authorizations

Clinical Pharmacology &Therapeutics, Volume 119, Issue 6, Page 1522-1536, June 2026.
Traditionally, clinical outcomes measuring how a patient feels, functions, or survives are preferred endpoints in clinical trials; however, some may take a long time to manifest in slowly developing diseases. Biomarkers, if properly validated, can serve as surrogate endpoints, acting as substitutes for clinical outcomes.
Renske Johanna Grupstra, Viktoriia Starokozhko, Elisabeth Bakker, Anna Maria Gerdina Pasmooij, Peter Gerardus Maria Mol   +4 more
wiley   +1 more source

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

The Long Pentraxin PTX3 Is an Endogenous Inhibitor of Hyperoxaluria-Related Nephrocalcinosis and Chronic Kidney Disease

Frontiers in Immunology, 2018
The long pentraxin 3 (PTX3) exerts a variety of regulatory functions in acute and chronic tissue inflammation. In particular, PTX3 acts as an opsonin for a variety of pathogens and endogenous particles.
Julian A. Marschner, Shrikant R. Mulay, Stefanie Steiger, Lidia Anguiano, Zhibo Zhao, Peter Boor, Khosrow Rahimi, Antonio Inforzato, Antonio Inforzato, Cecilia Garlanda, Cecilia Garlanda, Alberto Mantovani, Alberto Mantovani, Hans-Joachim Anders   +13 more
doaj   +1 more source