Results 41 to 50 of about 41,808 (221)

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

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +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

Pyoderma gangrenosum: a presenting sign of myelodysplastic syndrome in undiagnosed Fanconi anemia [PDF]

, 2019
A 26-year-old man with a history of congenital bilateral microtia, unilateral renal agenesis, left aural atresia, and right external auditory canal occlusion admitted for right rib cartilage graft harvest and left ear re-construction.
Kandula, Prasanthi, Le, Cuong, Shah, Kishan M., Wolverton, Jay E., Wolverton, Stephen E.   +4 more
core  

Fanconi Syndrome Leading to Hypophosphatemic Osteomalacia Related to Tenofovir Use

Infectious Disease Reports, 2021
Tenofovir disoproxil fumarate (TDF) is used worldwide to treat and prevent Human Immunodeficiency Virus (HIV) infection. Fanconi syndrome is a complication of TDF use and is characterized by inadequate reabsorption of glucose, phosphate and protein in ...
Mana Rao, Liam Dadey, Thomas Glowa, Peter Veldkamp   +3 more
doaj   +1 more source

Soft tissue abnormalities in the congenital limb malformation radial dysplasia (RD): Their clinical impact and treatment significance

Journal of Anatomy, EarlyView.
We review the characteristic changes to the limb soft tissue and neurovascular abnormalities that have been described in the congenital limb birth defect, Radial Dysplasia. These include consistent changes in muscle anatomy or absence of specific muscles, persistent median arteries and absent radial arteries and consistent alterations in neural ...
Marco Correia Duarte, Sultan M. Al‐Zyoud, Eleanor M. Feneck, Duane James, Gillian D. Smith, Branavan Sivakumar, Malcolm P. O. Logan   +6 more
wiley   +1 more source

A theory for the tissue specificity of BRCA1/2 related and other hereditary cancers [PDF]

, 2010
Women who inherit a defective BRCA1 or BRCA2 gene have risks for breast and ovarian cancer that are so high and seem so selective that many mutation carriers choose to have prophylactic surgery. There has been much conjecture to explain such apparently
Bernard Friedenson
core   +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

Early‐Onset Oral Squamous Cell Carcinoma: Emerging Biological Insights, Risk Factors and Clinical Implications

Journal of Oral Pathology &Medicine, EarlyView.
ABSTRACT Background Early‐onset oral squamous cell carcinoma (EO‐OSCC), commonly defined as occurring in individuals under 50 years of age, is increasingly recognized as a potentially distinct clinical subset with differences in exposure patterns and tumor biology compared with conventional oral squamous cell carcinoma (OSCC).
Gennaro Musella, Cristina D'Antonio, Federica Canfora, Michele D. Mignogna, Valentino Vellone, Vito Carlo Alberto Caponio, Amerigo Giudice, Alessandro Villa, Daniela Adamo   +8 more
wiley   +1 more source

Fainting Fanconi syndrome clarified by proxy: a case report [PDF]

, 2017
BACKGROUND: Rare diseases may elude diagnosis due to unfamiliarity of the treating physicians with the specific disorder. Yet, advances in genetics have tremendously enhanced our ability to establish specific and sometimes surprising diagnoses.
Bass, P, Bockenhauer, D, Ellard, S, Hussain, K, Kleta, R, Unwin, R, Van't Hoff, W, Walsh, SB   +7 more
core   +4 more sources