Results 51 to 60 of about 2,289,814 (238)

Proximal Tubulopathy With Fibrillary Inclusions: A Rare Manifestation of Lymphoma-Associated Monoclonal Gammopathy of Renal Significance (MGRS)

Kidney Medicine, 2019
Light chain proximal tubulopathy is a rare M-proteinemia–related nephropathy. The inclusions, composed of light chains in light chain proximal tubulopathy, are generally crystalline, and most exhibit a rhombic shape.
Ayami Ino, Kanoko Yamaguchi, Sekiko Taneda, Shiho Makabe, Yoshie Wakayama, Hiroshi Kataoka, Junji Tanaka, Kosaku Nitta, Toshio Mochizuki   +8 more
doaj   +1 more source

Inherited mutations impair responses to environmental carcinogens: Cancer prevention in mutation carriers [PDF]

, 2011
Some environmental carcinogens may be responsible for a modest increase in the numbers of cancers after years of exposure. Economic or political factors weigh against widespread bans of carcinogens.
Bernard Friedenson
core   +2 more sources

Fanconi Syndrome and Tenofovir Alafenamide

Annals of Internal Medicine, 2019
TO THE EDITOR: Some issues in Bahr and colleagues' (1) case report on a patient with Fanconi syndrome caused by tenofovir alafenamide (TAF) warrant further investigation.
Hortensia lvarez, J. Llibre
semanticscholar   +1 more source

Fanconi Syndrome: Genetic and Acquired Determinants

Journal of Education, Health and Sport
Fanconi syndrome is a condition characterized by proximal tubular dysfunction of the nephron, leading to urinary loss of glucose, amino acids, and electrolytes such as phosphate, sodium, potassium, calcium, and magnesium. It often co-occurs with tubular
Rafał Rejmak, Kornelia Karamus, Jan Biłogras, Wojciech Urban, Martyna Borowska-Łygan, Konrad Strużek, Jakub Tomaszewski   +6 more
doaj   +1 more source

Aminoaciduria Caused by Fanconi Syndrome in a Heifer

Journal of Veterinary Internal Medicine, 2017
A case study of renal tubular dysfunction consistent with idiopathic Fanconi syndrome is reported in an 18‐month‐old Holstein heifer. The clinical, biochemical, and histopathological features are described.
N. Cesbron, L. Dorso, A.‐L. Royer, G. Dervilly‐Pinel, J. Hervé   +4 more
doaj   +1 more source

Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy

Cell Reports, 2016
Summary: We recently reported an autosomal dominant form of renal Fanconi syndrome caused by a missense mutation in the third codon of the peroxisomal protein EHHADH.
Nadine Assmann, Katja Dettmer, Johann M.B. Simbuerger, Carsten Broeker, Nadine Nuernberger, Kathrin Renner, Holly Courtneidge, Enriko D. Klootwijk, Axel Duerkop, Andrew Hall, Robert Kleta, Peter J. Oefner, Markus Reichold, Joerg Reinders   +13 more
doaj   +1 more source

An Extremely Low-Birth-Weight Infant With Bone Fragility Due to Fanconi Syndrome

Kidney Medicine
Fanconi syndrome is a generalized dysfunction of the renal proximal tubule, leading to growth failure and rickets during childhood. There are few reports of this syndrome in neonates, especially in extremely low-birth-weight infants. We present a case of
Rei Yoshida, Miku Hosokawa, Toshiko Ukawa, Chisa Tsurisawa, Yoshiya Hisaeda, Shusuke Amagata, Tomohiro Takeda, Atsushi Nakao   +7 more
doaj   +1 more source

Can radiosensitivity associated with defects in DNA repair be overcome by mitochondrial-targeted antioxidant radioprotectors [PDF]

, 2014
Radiation oncologists have observed variation in normal tissue responses between patients in many instances with no apparent explanation. The association of clinical tissue radiosensitivity with specific genetic repair defects (Wegner's syndrome, Ataxia ...
Berhane, H, Bernard, M, Epperly, MW, Greenberger, JS, Rhieu, BH, Shinde, A, Skoda, EM, Wipf, P   +7 more
core   +1 more source

Tumor and germline testing with next generation sequencing in epithelial ovarian cancer: a prospective paired comparison using an 18‐gene panel

Molecular Oncology, EarlyView.
Genetic testing in epithelial ovarian cancer includes both germline and tumor‐testing. This approach often duplicates resources. The current prospective study assessed the feasibility of tumor‐first multigene testing by comparing tumor tissue with germline testing of peripheral blood using an 18‐gene NGS panel in 106 patients.
Elisabeth Spenard, Cristina Mitric, Melanie Care, Tracy L. Stockley, Raymond H. Kim, Jeanna McCuaig, Blaise Clarke, Laura Ranich, Clare Sheen, Sarah E. Ferguson, Liat Hogen, Taymaa May, Marcus Q. Bernardini   +12 more
wiley   +1 more source

Fanconi syndrome with lysinuric protein intolerance

, 2014
We present the case of a 9-year-old child with lysinuric protein intolerance and Fanconi syndrome. She was referred to our hospital with a persistent metabolic acidosis and polyuria. Renal investigations revealed all laboratory signs of Fanconi syndrome,
PISANI, ANTONIO, RICCIO, ELEONORA
core   +1 more source