Results 71 to 80 of about 19,914 (205)

Maternal protein restriction programs the ageing kidney: Proteomic signatures of early‐life origin renal and metabolic dysfunction

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend Maternal protein restriction (MPR) induced persistent renal histopathological alterations accompanied by elevated serum creatinine levels. Nephron‐segment proteomic analysis revealed region‐specific molecular dysregulation affecting Bowman's capsule (PARK7, oxidative stress sensor; MSN, cytoskeletal organization), the proximal ...
Marina Pereira Pires   +15 more
wiley   +1 more source

Renal Tubular Acidosis and Hypokalemic Paralysis as a First Presentation of Primary Sjögren’s Syndrome

open access: yesCase Reports in Nephrology, 2018
Sjögren’s syndrome is an autoimmune disease with multisystem involvement and varying clinical presentation. We report the clinical course and outcome of a case who presented with repeated episodes of hypokalemia mimicking hypokalemic periodic paralysis ...
Arun Sedhain   +4 more
doaj   +1 more source

Gene‐Guided Therapy in Type 2 Diabetes Mellitus: An Integrative Review of the Pharmacogenetics of Metformin and Sodium‐Glucose Cotransporter‐2 Inhibitors

open access: yesEndocrinology, Diabetes &Metabolism, Volume 9, Issue 6, November 2026.
Genetic variation influences the pharmacological response to metformin and SGLT2 inhibitors in patients with type 2 diabetes mellitus. Pharmacogenetic biomarkers affecting drug transport, metabolism and target activity contribute to inter‐individual differences in treatment efficacy and adverse effects, supporting the implementation of personalized ...
Imran Hossain   +6 more
wiley   +1 more source

Distal renal tubular acidosis secondary to vesico-ureteric reflux: A case report with review of literature

open access: yesSaudi Journal of Kidney Diseases and Transplantation, 2018
Vesicoureteric reflux (VUR) is the most common congenital anomaly of the urinary tract that occurs in 30%–50% of children presenting with recurrent urinary tract infections. Long-standing untreated VUR results in renal scarring and hydronephrotic changes
Anjali Bharani   +2 more
doaj   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan   +23 more
wiley   +1 more source

Examination of a patient with renal tubular acidosis: renal tubular acidosis with hyperparathyroidism, pheochromocytoma, and multiple kidney stones: a case report

open access: yesJournal of Medical Case Reports
Background Renal tubular acidosis is a rare disorder affecting acid–base balance, and its coexistence with endocrine abnormalities such as hyperparathyroidism and pheochromocytoma is exceptionally uncommon. This combination presents unique diagnostic and
Marzieh Nasiri Sangari   +5 more
doaj   +1 more source

Parathyroid carcinoma presenting with type 1 renal tubular acidosis

open access: yesSri Lanka Journal of Diabetes Endocrinology and Metabolism, 2018
Primary hyperparathyroidism usually caused by parathyroid adenoma, parathyroid hyperplasia or rarely parathyroid carcinoma (PTC). PTC accounts for 0.4% to 5.2% of all reported cases of hyperparathyroidism, which is approximately 0.2% to 0.5% of malignant
S. A. S. Priyankara   +5 more
doaj   +1 more source

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl‐tRNA Synthetase Deficiencies

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (ARSs) facilitate the loading of transfer RNAs with their cognate amino acids in the cytosol (ARS1), mitochondria (ARS2), or both (dual ARS). ARS deficiencies are clinically heterogeneous and can cause severe, occasionally fatal disease.
I. J. J. Muffels   +21 more
wiley   +1 more source

Gastroschisis‐Like Defect in a Crossbred Bovine Calf: Anatomical, Clinical and Surgical Perspectives

open access: yesVeterinary Medicine and Science, Volume 12, Issue 6, November 2026.
A gastroschisis‐like defect was observed in a one‐day‐old, crossbred bovine calf with evisceration of the pyloric abomasum and small intestine, likely resulting from prenatal rupture of an omphalocele. The calf presented with lethargy, hypothermia and metabolic derangements, along with elevated renal biomarkers.
Mohammad Raguib Munif   +1 more
wiley   +1 more source

Nefrotoxicidad tubular proximal inducida por sobredosis de tenofovir: reporte de un caso de síndrome de Fanconi incompleto

open access: yesRevista Médica Herediana
Mujer de 21 años admitida por intento autolítico tras ingesta de 28 tabletas de tenofovir/lamivudina/dolutegravir, administradas en el contexto de una profilaxis posexposición al virus de la inmunodeficiencia humana (VIH) luego de una agresión sexual ...
Esteban Ochoa-Robles   +4 more
doaj   +1 more source

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