Results 71 to 80 of about 6,666 (226)

Stone dust in endourology: a systematic review of its definition, management, and clinical impact

BJU International, Volume 136, Issue 2, Page 185-197, August 2025.
Objective To evaluate and synthesise the existing literature on stone dust (DUST) in endourology, focusing on its definition, creation methods, and removal techniques. Methods A comprehensive electronic literature search was conducted using the PubMed/Medline, Web Of Science, and Embase databases to identify reports published until October 2024.
Stefano Moretto, Alberto Quarà, Federico Zorzi, Alejandra Bravo‐Balado, Aideen Madden, Johan Cabrera, Mariela Corrales, Luigi Candela, Steeve Doizi, Frederic Panthier, Olivier Traxer   +10 more
wiley   +1 more source

CATs and HATs: the SLC7 family of amino acid transporters [PDF]

, 2018
The SLC7 family is divided into two subgroups, the cationic amino acid transporters (the CAT family, SLC7A1-4) and the glycoprotein-associated amino acid transporters (the gpaAT family, SLC7A5-11), also called light chains or catalytic chains of the ...
Closs, Ellen, Endou, Hitoshi, Kanai, Yoshikatsu, Palacin, Manuel, Verrey, François, Wagner, Carsten   +5 more
core  

Mechanisms of human kidney stone formation [PDF]

, 2014
The precise mechanisms of kidney stone formation and growth are not completely known, even though human stone disease appears to be one of the oldest diseases known to medicine.
Coe, Fredric L., Evan, Andrew P., Lingeman, James E., Williams, James, Worcester, Elaine M.   +4 more
core   +1 more source

Germline Whole‐Exome Sequencing in Non‐Smoker Lung Cancer Patients Reveals Pathogenic Variants in Lung Cancer Driver Genes

Genes, Chromosomes and Cancer, Volume 64, Issue 3, March 2025.
ABSTRACT Approximately 10%–15% of all lung cancers arise in non‐smokers. Although there are no established aetiological factors, non‐smokers with a family history of cancer have an increased risk of lung cancer, implying host genetic factors in lung cancer susceptibility. We sought to identify, in a cohort of 75 patients recruited before lung lobectomy,
Giovanni Carapezza, Simone Paolo Minardi, Sara Noci, Giulia Pintarelli, Susanna Zanutto, Matteo Incarbone, Davide Tosi, Tommaso Antonio Dragani, Francesca Colombo, Marco Alessandro Pierotti, Manuela Gariboldi   +10 more
wiley   +1 more source

Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula [PDF]

, 2015
Acessível em: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375120/Homocystinuria due to cystathionine β-synthase deficiency or "classical homocystinuria" is a rare autosomal recessive condition resulting in altered sulfur metabolism with elevated ...
E Martins, FD Testai, G Sebastio, H Gan-Schreier, M Cozar, M Furujo, M Meier, M Nagao, ME Chamberlin, ME Chamberlin, ME Chamberlin, ML Couce, MM Rebollido-Fernandez, MS Rashed, PM Gallagher, R Banerjee, R Castro, R Urreitzi, R Urreizti, S Chadwick, S Stabler, S Tortorelli, SH Mudd, SH Mudd, SJ Moat, Y Chien   +25 more
core   +1 more source

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Inborn errors of metabolism (IEMs) are rare genetic conditions with significant morbidity and mortality. Technological advances have increased therapeutic options, making it challenging to remain up to date. A centralized therapy knowledgebase is needed for early diagnosis and targeted treatment. This study aimed to identify all treatable IEMs
Bibiche den Hollander, Eva M. M. Hoytema van Konijnenburg, Brittany Hewitson, Jan C. van der Meijden, Berith M. Balfoort, Brad Winter, Annelieke R. Müller, Wyeth W. Wasserman, Carlos R. Ferreira, Clara D. van Karnebeek   +9 more
wiley   +1 more source

Accuracy of urine pH testing in a regional metabolic renal clinic: is the dipstick accurate enough? [PDF]

, 2013
Urine pH is a useful marker for assessing treatment need and efficacy in patients with nephrolithiasis. Though the gold standard of measurement is with a pH electrode, dipsticks offer the convenience of cost, ease of use, and the possibility of patients ...
Caroline Robinson, Deborah Spencer, Fiona E. Karet Frankl, Oliver J. Wiseman, Tsong Kwong   +4 more
core   +1 more source

Mechanisms and therapeutic potential of disulphidptosis in cancer

Cell Proliferation, Volume 58, Issue 1, January 2025.
SLC7A11 plays a pivotal role in tumour development by facilitating cystine import to enhance glutathione synthesis and counteract oxidative stress. Disulphidptosis, an emerging form of cell death observed in cells with high expression of SLC7A11 under glucose deprivation, is regulated through reduction–oxidation reactions and disulphide bond formation.
Yanhu Li, Haijun Zhang, Fengguang Yang, Daxue Zhu, Shijie Chen, Zhaoheng Wang, Ziyan Wei, Zhili Yang, Jingwen Jia, Yizhi Zhang, Dongxin Wang, Mingdong Ma, Xuewen Kang   +12 more
wiley   +1 more source

Aminosäuren – Leitlinie Parenterale Ernährung, Kapitel 4 [PDF]

, 2009
Protein catabolism should be reduced and protein synthesis promoted with parenteral nutrion (PN). Amino acid (AA) solutions should always be infused with PN. Standard AA solutions are generally used, whereas specially adapted AA solutions may be required
Blumenstein, Irina Ursula, Böhles, Hansjosef, Goeters, Christiane, Schulz, Ralf-Joachim, Stein, Jürgen   +4 more
core  

Bilateral Ureteral Lithiasis and Postrenal Acute Kidney Injury: A Rare Complication of Diabetic Ketoacidosis in a Child

Case Reports in Pediatrics, Volume 2025, Issue 1, 2025.
Diabetic ketoacidosis (DKA) is a common initial presentation of type 1 diabetes mellitus (T1DM) in children occurring in up to 40% of cases. DKA can also be associated with severe complications, including nephrolithiasis. We present the case of a 12 years and 8‐month‐old boy who developed acute kidney injury (AKI) secondary to bilateral urinary ...
Fabio Rotondo, Sofia Siena, Maria Rosa Pastore, Pasquale Pio Maccarone, Morena Luce Mansueto, Irene Rutigliano, Andrea Scaramuzza   +6 more
wiley   +1 more source