Results 31 to 40 of about 13,710 (218)

Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations [PDF]

, 2019
In higher organisms, epithelia separate compartments in order to guarantee their proper function. Such structures are able to seal but also to allow substances to pass.
Fernández-Rodríguez, Cármen, Martínez-Cruz, Luis Alfonso, Müller, Dominik, Seker, Murat   +3 more
core   +1 more source

Nephrocalcinosis in a patient with extrapulmonary tuberculosis – A rare entity

Journal of Family Medicine and Primary Care, 2019
Nephrocalcinosis is a rare condition in clinical practice where there is an increased renal deposition of calcium. Varied causes of this condition have been given in literature, and tuberculosis (TB) has been an important one.
Sayan Malakar, Bhagwan Dass Negi, Guriqbal Singh, Tarun Sharma   +3 more
doaj   +1 more source

Complicated pregnancies in inherited distal renal tubular acidosis: importance of acid-base balance [PDF]

, 2017
Inherited distal renal tubular acidosis (dRTA) is caused by impaired urinary acid excretion resulting in hyperchloremic metabolic acidosis. Although the glomerular filtration rate (GFR) is usually preserved, and hypertension and overt proteinuria are ...
Eisel, Rüdiger, Mohebbi, Nilufar, Salfeld, Peter, Seeger, Harald, Wagner, Carsten A   +4 more
core   +1 more source

Evaluation of phosphorus, calcium, and magnesium content in commercially available foods formulated for healthy cats. [PDF]

, 2020
BackgroundHigh dietary phosphorus (P) and low calcium-to-phosphorus ratio (Ca:P) are associated with kidney damage in cats. There are no established guidelines for dietary P maximum for cats.ObjectivesTo quantify crude protein, P, Ca, and magnesium (Mg ...
Larsen, Jennifer A, Rodriguez, Anais Sanchez, Stockman, Jonathan, Summers, Stacie C, Zhang, Lei   +4 more
core  

Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort [PDF]

, 2016
BACKGROUND: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD).
Addis, M, Ahn, YH, Anglani, F, Baronio, F, Bockenhauer, D, Bökenkamp, A, Bürger, J, Cheong, HI, Chung, WY, Fonduli, P, Gellermann, J, Gucev, Z, Konrad, M, Kołbuc, M, Krzemień, A, La Manna, A, La Scola, C, Lee, JW, Ludwig, M, Miklaszewska, M, Moczko, J, Niemirska, A, Paglialonga, F, Paripovic, D, Park, SJ, Park, YH, Rogowska-Kalisz, A, Roszak, M, Runowski, D, Rus, R, Said-Conti, V, Sartz, L, Sikora, P, Siteń, G, Stefanidis, CJ, Szczepańska, M, Tasic, V, Wasilewska, A, Zampetoglou, A, Zaniew, M, Załuska-Leśniewska, I, Zurrida, F   +41 more
core   +1 more source

Detection of nephrocalcinosis using ultrasonography, micro‐computed tomography, and histopathology in cats

Journal of Veterinary Internal Medicine
Background Identification of nephrocalcinosis in cats with chronic kidney disease (CKD) is of clinical interest but the ability of ultrasonography to detect nephrocalcinosis is uncertain.
Pak‐Kan Tang, Rebecca F. Geddes, Yu‐Mei Chang, Rosanne E. Jepson, Dirk Hendrik Nicolaas van denBroek, Nicola Lötter, Jonathan Elliott   +6 more
doaj   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still's Disease‐like Autoinflammatory Syndrome

Arthritis &Rheumatology, Accepted Article.
Objectives Still's Disease represents a prototypical polygenic systemic autoinflammatory diseases (SAIDs), characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still's disease remains unreported.
Longfang Chen, Qihua Dai, Yu Xiao, Jialin Dai, Mengyan Wang, Yuning Ma, Yujie Shen, Zhimo Xu, Jianfen Meng, Xia Chen, Da Yi, Yue Sun, Hui Shi, Honglei Liu, Xiaobing Cheng, Yutong Su, Junna Ye, Huihui Chi, Zhuochao Zhou, Tingting Liu, Jialin Teng, Chengde Yang, Jinchao Jia, Qiongyi Hu   +23 more
wiley   +1 more source

Risk factors and implications associated with ultrasound‐diagnosed nephrocalcinosis in cats with chronic kidney disease

Journal of Veterinary Internal Medicine
Background Microscopic nephrocalcinosis is a common pathological feature of chronic kidney disease (CKD) in cats. Detection of macroscopic nephrocalcinosis using ultrasonography and its implications remain unexplored.
Pak‐Kan Tang, Rebecca F. Geddes, Yu‐Mei Chang, Rosanne E. Jepson, Dirk Hendrik Nicolaas van denBroek, Nicola Lötter, Jonathan Elliott   +6 more
doaj   +1 more source

Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis

Kidney & Blood Pressure Research, 2021
Background: Distal renal tubular acidosis (dRTA) is characterized by an impairment of urinary acidification resulting in metabolic acidosis, hypokalemia, and inappropriately elevated urine pH.
Viola D’Ambrosio, Alessia Azzarà, Eugenio Sangiorgi, Fiorella Gurrieri, Bernhard Hess, Giovanni Gambaro, Pietro Manuel Ferraro   +6 more
doaj   +1 more source