Results 61 to 70 of about 46,254 (213)
Our understanding of the molecular basis of cystinuria has deepened as the result of the causative genes, SLC3A1 and SLC7A9, being identified. The proteins coded for by these genes form a heterodimer responsible for reabsorption of filtered cystine in the proximal tubule. Failure of this transport system to be targeted to the apical membrane, as in the
Fattah, Hasan +2 more
openaire +2 more sources
Inherited metabolic epilepsies–established diseases, new approaches
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
ObjectiveMetabolic dysfunction-associated fatty liver disease (MAFLD) and nephrolithiasis are two common metabolic diseases, but their relationship has not yet been thoroughly studied.
Shengqi Zheng +9 more
doaj +1 more source
Nephrolithiasis and risk of hypertension: a meta-analysis of observational studies
Background Observational studies have demonstrated an association between nephrolithiasis and hypertension. The aim of this meta-analysis was to summarize all available evidence.
Weifeng Shang +5 more
doaj +1 more source
Hydrochlorothiazide reduces urinary calcium excretion in a child with Lowe syndrome. [PDF]
There is a growing recognition that children with Lowe syndrome are at risk of nephrocalcinosis and nephrolithiasis from hypercalciuria. Increased fluid intake and correction of metabolic acidosis have remained the focus for intervention but are not ...
Butani, Lavjay
core +1 more source
ABSTRACT Background Parathyroidectomy is the treatment for primary hyperparathyroidism, yet postoperative hypocalcemia and hungry bone syndrome remain common. Vitamin D deficiency has been suggested as a modifiable risk factor, but evidence supporting preoperative supplementation is inconsistent.
Matthew Gynn +2 more
wiley +1 more source
Association between low bone mass and the serum RANKL and OPG in patients with nephrolithiasis
Background Nephrolithiasis is a risk factor for Osteopenia and osteoporosis. Receptor activator of nuclear factor kappaB ligand (RANKL) and osteoprotegerin (OPG) regulate bone remodeling and osteoclastogenesis.
Asieh Mansour +8 more
doaj +1 more source
Pelvic venous disorders in women: Diagnosis and management for gynecologists
Abstract Pelvic venous disorders (PeVD) are an underrecognized yet significant cause of chronic pelvic pain (CPP) in reproductive‐aged women, characterized by venous reflux, obstruction, or both. This clinical opinion provides a practical overview of PeVD for gynecologists, outlining its pathophysiology, common presentations, diagnostic approach, and ...
Tiffany Ni +5 more
wiley +1 more source
Changes in metabolic overweight phenotypes over time and risk of nephrolithiasis: a cohort study
Background Overweight/obesity is considered an independent risk factor for nephrolithiasis, but little is known about its effect on nephrolithiasis according to metabolic health status.
Yang Cheng +7 more
doaj +1 more source
PurposeIn patients with nephrolithiasis, oxidative stress, especially lipid peroxidation is observed. Moreover, various invasive methods [including extracorporeal shock wave lithotripsy (ESWL)] for treatment of nephrolithiasis may induce not only the ...
Paweł Woźniak +5 more
doaj +1 more source

