Results 31 to 40 of about 7,575 (173)

Evaluating distal renal tubular acidification function in primary hyperparathyroidism and its effects on bone mineral density

BMC Musculoskeletal Disorders, 2021
Background Primary hyperparathyroidism (PHPT) is a common endocrinopathy that may increase fracture risk and decrease bone mineral density (BMD). Some patients develop distal renal tubular acidification dysfunction under conditions of hyperchloraemia or ...
Wangna Tang, Hongwei Jia, Baoping Wang, Yun Chai, Tong Liu, Hao Wang, Chenlin Dai   +6 more
doaj   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Characterization of Lysosomal Hydrolases and Transporters and Their Age‐Dependent Variability: Relevance to Drug Metabolism and Transport of Small Molecule and Biologic Drugs

Clinical Pharmacology &Therapeutics, EarlyView.
Lysosomes play a key role in the accumulation, catabolism, and transport of endogenous and exogenous metabolites and proteins and are involved in drug metabolism and prodrug activation. However, the protein abundance and interindividual variability of lysosomal drug‐metabolizing enzymes and transporters (DMETs) remain underexplored.
Darshak Gadara, Dilip Kumar Singh, Sandhya Subash, Guihua Yue, Deepak Ahire, Chris Bohl, Maciej Czerwinski, Stephanie Helmstetter, Scott Heyward, Robert S. Jones, Cyrus Khojasteh, Ryota Kikuchi, Priyanka Kulkarni, Bin Ma, Bernard Murray, Chris Seib, Bill Smith, David M. Stresser, Mitchell E. Taub, Ting Wang, Bhagwat Prasad   +20 more
wiley   +1 more source

The nitty‐gritty of vascular permeability in cancer: targeting blood endothelium to control metastases

British Journal of Pharmacology, EarlyView.
Blood vascular permeability is a hallmark of cancer and acts as an active driver of metastatic dissemination. Metastasis accounts for the vast majority of cancer deaths, yet most work has focussed on tumour‐intrinsic traits and angiogenesis, while the specific contribution of endothelial barrier regulation to intravasation and extravasation remains ...
Pierre Boucher, Mérone Da Costa Oliveira, Adrien Levesque, Alexandre Rutault, Patrick Savoyaud, Nicolas Bréchot, Stéphane Germain   +6 more
wiley   +1 more source

Atypical clinical presentation of distal renal tubular acidosis: a case report registered in Amazonas, Brazil

Brazilian Journal of Nephrology, 2020
We report an unusual case of a 24-year-old girl with a history of recurrent hypokalemic paralysis episodes and skin lesions on the lower limbs and buttocks, both of which had an acute evolution.
Daniel Monteiro Queiroz, Rolando Guillermo Vermehren Valenzuela, Ana Wanda Guerra Barreto Marinho, Samanta Samara Bicharra dos Santos, Danielle Ochoa da Silva, Maykon da Silveira Dias, Lorena de Oliveira Cruz   +6 more
doaj   +2 more sources

Multisystem developmental abnormalities and insulin resistance in ADTKD‐HNF1B with the p.E105K variant: A clinical conundrum

Diabetic Medicine, EarlyView.
Abstract Aims HNF1B variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD‐HNF1B), but the phenotypic spectrum of variants of uncertain significance (VUS) remains incompletely defined. We aimed to characterise the multisystem phenotype associated with the HNF1B p.E105K variant and to examine the mechanism underlying insulin ...
YunZe Wang, KangChun Xu, PengFei Liu, Bin Wang, Yan Yang, ShanZhai Wei   +5 more
wiley   +1 more source

Acquired distal renal tubular acidosis

Kidney International, 1983
A 67-year-old black man was admitted to the West Side Veterans Administration Hospital in Chicago because of weakness and clinical signs of volume contraction. He gave no history of vomiting, diarrhea, diuretic use, or any other obvious cause of volume depletion. Physical examination revealed an afebrile thin man with decreased skin turgor.
openaire   +2 more sources

Sjögren’s syndrome and hepatitis C virus infection presenting as hypokalemic quadriparesis: A case report

Journal of International Medical Research
Distal renal tubular acidosis can present with acute-onset quadriparesis caused by severe hypokalemia, and primary Sjögren’s syndrome is a significant potential cause of distal renal tubular acidosis in such patients.
Ashish Joshi, Ujjwol Prasad Risal, Navin Kumar Sah, Bhupendra Shah   +3 more
doaj   +1 more source

Type I renal tubular acidosis caused by Sjögren’s syndrome with hypokalemia as the first symptom: a case report

Journal of International Medical Research, 2020
Sjögren’s syndrome is a chronic inflammatory autoimmune disease characterized by exocrine gland involvement and marked lymphocytic infiltration. Numerous reports of patients with Sjögren’s syndrome have described kidney damage, mainly involving distal ...
Yanjun Zhou, Nanqu Huang, Guangyu Cao, Yong Luo   +3 more
doaj   +1 more source

Anaesthetic management of a horse with acute kidney injury

Equine Veterinary Education, EarlyView.
Summary Anaesthetic management of animals with acute kidney injuries (AKI) is complex and poses considerable risk. There are no publications describing management of anaesthetised horses with AKI. Perioperative and anaesthetic care of a Thoroughbred filly presented with traumatic injuries and subsequent AKI is described.
C. T. Quinn, K. J. Hughes, A. N. Walton
wiley   +1 more source