Results 41 to 50 of about 31,105 (207)

Bilineal Acute Leukemia Associated With Fanconi Syndrome: The First Case Report [PDF]

, 2016
Fanconi syndrome is a metabolic disorder involving dysfunction of the renal proximal tubules, resulting in excessive urinary excretion of several metabolites.
Maryan Sadat-Hosseini, Hosseini, M.S., Ghasem Miri-Aliabad, Akbar Dorgalaleh, Miri-Aliabad, G., Dorgalaleh, A.   +5 more
core   +1 more source

Reconceptualizing Aplastic Anemia—Seed, Worm, Soil

Journal of Clinical Laboratory Analysis, EarlyView.
Aplastic anemia (AA) encompasses a group of hematological syndromes often misdiagnosed, resulting in a decrease in the overall blood cell count and representing a form of bone marrow failure. We reinterpret AA based on the “seed, worm, and soil” doctrine.
Xintong Xu, Zining Wang, Jiaming Hu, Chunyan Liu, Rong Fu   +4 more
wiley   +1 more source

Ifosfamide induced Fanconi syndrome

, 2011
Ifosfamide (IFA) is a powerful chemotherapeutic drug that is active against a variety of paediatric malignancies. However, renal toxicities such as haemorrhagic cystitis and Fanconi syndrome are major hazards that hinder its use in clinical practice. The
Lau, Keith K., Buttemer, Samantha, Pai, Mohan   +2 more
core   +1 more source

Success of transition to adult care in patients with pediatric‐onset chronic liver disease

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Previous studies on chronic pediatric‐onset conditions have highlighted the risks of loss to follow‐up, disease progression, or therapeutic nonadherence during transition. However, very few studies have focused on liver diseases.
Sarah Mongbo, Valérie Canva, Sébastien Dharancy, Guillaume Lassailly, Alexandre Louvet, Philippe Mathurin, Nassima Ramdane, Frédéric Gottrand, Madeleine Aumar   +8 more
wiley   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, EarlyView.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Irreversible repression of DNA synthesis in Fanconi anemia cells is alleviated by the product of a novel cyclin-related gene [PDF]

, 1995
Primary fibroblasts from patients with the genetic disease Fanconi anemia, which are hypersensitive to cross-linking agents, were used to screen a cDNA library for sequences involved in their abnormal cellular response to a cross-linking challenge.
Digweed, M., Günthert, U., Schneider, R., Friedl, R., Sperling, K., Seyschab, H.   +5 more
core  

Fanconi Syndrome in Irish Wolfhound Siblings

, 2018
Three juvenile male Irish wolfhound littermates presented with marked polyuria and polydipsia. The four female siblings were apparently unaffected. Diagnostic testing revealed glucosuria with normoglycemia, generalized aminoaciduria, hypokalemia and ...
Serena E. Brownlie, Marge L. Chandler, James W. Simpson, Linda R. Morrison, Nick X. Bommer   +4 more
core   +1 more source

FAN1 Deletion Variant in Basenji Dogs with Fanconi Syndrome. [PDF]

Genes (Basel)
Background: Fanconi syndrome is a disorder of renal proximal tubule transport characterized by metabolic acidosis, amino aciduria, glucosuria, and phosphaturia. There are acquired and hereditary forms of this disorder.
Farias FHG, Mhlanga-Mutangadura T, Guo J, Hansen L, Johnson GS, Katz ML.   +5 more
europepmc   +2 more sources

Healthcare costs of managing MAFLD are mostly driven by hospitalisation and advanced fibrosis: cost‐analysis from a tertiary‐care, multi‐disciplinary MAFLD clinic

Internal Medicine Journal, EarlyView.
Abstract Background and Aims Patients with metabolic (dysfunction)‐associated fatty liver disease (MAFLD) are frequently multimorbid, putting upward pressure on healthcare costs compared to other liver diseases. As Australian data are limited on expenditures in managing MAFLD, we evaluated hospital‐related costs and predictors of costs in patients ...
Natalie Ngu, Karl Vaz, Tobie Abrahams, Carmela Cosentino, John Lubel, Ammar Majeed, Stuart K Roberts, William Kemp   +7 more
wiley   +1 more source

Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman

JIMD Reports, 2023
Lysinuric protein intolerance (LPI), caused by pathogenic variants of SLC7A7, is characterized by protein aversion, failure to thrive, hyperammonemia, and hepatomegaly.
Hiroaki Hanafusa, Katsuya Nakamura, Yuji Kamijo, Masashi Kitahara, Takashi Ehara, Tsuneaki Yoshinaga, Kaoru Aoki, Nagaaki Katoh, Tomomi Yamaguchi, Tomoki Kosho, Yoshiki Sekijima   +10 more
doaj   +1 more source