Results 41 to 50 of about 1,116 (166)

Mycotoxic porcine nephropathy and spontaneous occurrence of ochratoxin A residues in kidneys of slaughtered swine [PDF]

Zbornik Matice Srpske za Prirodne Nauke, 2009
In order to find information on the occurrence of mycotoxic porcine nephropathy in Serbia, during a six month period (2006/2007) samples of kidney from individual healthy slaughtered pigs were collected (n=90) and analyzed by HPLC for ochratoxin A.
Milićević Dragan R., Jurić Verica B., Daković Aleksandra, Jovanović Miljan, Stefanović Srđan, Petrović Zoran I.   +5 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
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

Hereditary tubulopathies including the associated bone disease

Regulatory Mechanisms in Biosystems, 2018
Tubulopathy is a heterogeneous group of diseases combined by the nephron functions disorders of one or more enzyme proteins in the tubular epithelium that cease to function as a reabsorption of one or several substances filtered from the blood through ...
M. O. Ryznychuk, T. V. Khmara, M. I. Kryvchanska, I. I. Zamorskii   +3 more
doaj   +1 more source

Crystals, crystals everywhere but not a clue till late… Light chain crystalline proximal tubulopathy with concomitant myeloma cast nephropathy

Indian Journal of Pathology and Microbiology, 2020
The renal diseases commonly associated with myeloma include primary amyloidosis, cast nephropathy, and light chain deposition disease. Less frequent forms of renal involvement encountered in the course of myeloma are crystalline and non-crystalline ...
Smita Mary Matthai, Suceena Alexander, Shibu Jacob, Neelaveni Duhli, Vinoi George David, Santosh Varughese   +5 more
doaj   +1 more source

GSK3β drives early diabetic tubulopathy via TFEB‐mediated mitochondrial dysfunction

Interdisciplinary Medicine, EarlyView.
Mitochondrial dysfunction, including mitochondrial biogenesis, mitophagy, dynamics and oxidative stress, occurs in the early stages of diabetic tubulopathy, which precede proteinuria and renal histological changes. GSK3β is a potential novel biomarker for the prediction of diabetic tubulopathy.
Lan Yao, Xianhui Liang, Bingyu Li, Bohan Chen, Xiaoyang Wang, Mei Hong, Qi Feng, Yingjin Qiao, Zhangsuo Liu, Kai Wang, Pei Wang   +10 more
wiley   +1 more source

Ocular manifestations of the genetic renal tubulopathies

Ophthalmic Genetics, 2023
The genetic tubulopathies are rare and heterogenous disorders that are often difficult to identify. This study examined the tubulopathy-causing genes for ocular associations that suggested their genetic basis and, in some cases, the affected gene.Sixty-seven genes from the Genomics England renal tubulopathy panel were reviewed for ocular features, and ...
GeFei Yang, Heather Mack, Philip Harraka, Deb Colville, Judy Savige   +4 more
openaire   +2 more sources

Oxidants and Cardiorenal Vascular Remodeling—Insights from Rare Genetic Tubulopathies: Bartter’s and Gitelman’s Syndromes

Antioxidants, 2023
Two human genetic tubulopathies, Bartter’s (BS) and Gitelman’s (GS) syndromes, have normo/hypotension and absent cardiac remodeling despite their apparent angiotensin system (RAS) activation.
Luca Sgarabotto, Verdiana Ravarotto, Lucia Federica Stefanelli, Martina Cacciapuoti, Paul A. Davis, Federico Nalesso, Lorenzo A. Calò   +6 more
doaj   +1 more source

Hypophosphataemia in adults: approach to diagnosis and management

Internal Medicine Journal, EarlyView.
Abstract Hypophosphataemia is a common electrolyte disorder which can have clinically significant consequences for bone, muscle, neurological and haematological function. Its causes range from transient transcellular shifts in hospitalised patients to chronic renal phosphate‐wasting disorders mediated by fibroblast growth factor 23 (FGF23).
Kajanan Parameshwaran, Mawson Wang, Kirtan Ganda   +2 more
wiley   +1 more source

Urolithiasis in Children—Clinical Picture, Pathogenesis, and Diagnostic Approach

Biomolecules
As in adults, urolithiasis is a significant health problem in children from an early age, having a very negative impact on health and quality of life and potentially leading to kidney function impairment.
Justyna Pięta, Michał Szyszka, Patryk Lipiński, Piotr Skrzypczyk   +3 more
doaj   +1 more source

Ewing Sarcoma in Infants and Children Under 2 Years of Age: A French Retrospective Study

Pediatric Blood &Cancer, Volume 73, Issue 11, November 2026.
ABSTRACT Ewing sarcoma, the second most common primary bone cancer in children, requires intensive treatment that may lead to significant long‐term sequelae, particularly in infants. We retrospectively analyzed data from 1621 French patients treated between 1988 and 2015 within the EW88/93/97 or EE99 trials, focusing on 17 infants diagnosed before 24 ...
Elodie Verdier, Nathalie Cozic, Marie‐Dominique Tabone, Gaelle Pierron, Perrine Marec‐Berard, Sarah Winter, Gabriel Revon‐Rivière, Cyril Lervat, Dominique Plantaz, Marie‐Pierre Castex, Gregory Guimard, Estelle Thebaud, Stephanie Proust, Laure Saumet, Natacha Entz‐Werle, Sophie Taque, Cécile Vérité, Marta Jimenez, Nathalie Gaspar   +18 more
wiley   +1 more source