Results 41 to 50 of about 1,069,421 (301)

Case Report: Aplastic anemia related to a novel CTLA4 variant

Frontiers in Pediatrics
A 20-year-old male patient with a history of celiac disease came to medical attention after developing profound fatigue and pancytopenia. Evaluation demonstrated pan-hypogammaglobulinemia. There was no history of significant clinical infections.
Geoffrey Hall, Janet G. Markle, James Maiarana, Paul L. Martin, Jennifer A. Rothman, John W. Sleasman, Howard Lederman, Antoine E. Azar, Robert A. Brodsky, Talal Mousallem   +9 more
doaj   +1 more source

Why and When Are Evidence‐Based Interventions Adopted in Paediatric Supportive Care? A Qualitative Exploration of the Determinants of Photobiomodulation Implementation

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Oral mucositis is a common and debilitating side effect of childhood cancer and stem cell transplant treatments. It affects the quality of life of children and young people (CYP) and places a strain on services. Photobiomodulation is recommended for oral mucositis prevention in international guidance but is poorly implemented in UK ...
Claudia Heggie, Kara A. Gray‐Burrows, Peter F. Day, Bob Phillips, Carl A. Thompson   +4 more
wiley   +1 more source

Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript [PDF]

, 2011
Genome-wide association studies (GWAS) have identified more than 30 prostate cancer (PrCa) susceptibility loci. One of these (rs2735839) is located close to a plausible candidate susceptibility gene, KLK3, which encodes prostate-specific antigen (PSA)
Kote-Jarai, Z., Amin Al Olama, A., Leongamornlert, D., Tymrakiewicz, M., Saunders, E., Guy, M., Giles, Graham, Severi, G., Southey, M., Hopper, J. L., Sit, K. C., Harris, J. M., Batra, J., Spurdle, A. B., Clements, J. A., Hamdy, Freddie C., Neal, David E., Donovan, Jenny, Muir, Kenneth, Pharoah, P. D. P., Chanock, Stephen, Brown, N., Benlloch, S., Castro, E., Mahmud, N., O'Brien, L., Hall, A., Sawyer, E., Wilkinson, R., Easton, Douglas F., Eeles, Rosalind A.   +30 more
core   +2 more sources

Discovery and Differential Processing of HLA Class II-Restricted Minor Histocompatibility Antigen LB-PIP4K2A-1S and Its Allelic Variant by Asparagine Endopeptidase [PDF]

, 2020
Minor histocompatibility antigens are the main targets of donor-derived T-cells after allogeneic stem cell transplantation. Identification of these antigens and understanding their biology are a key requisite for more insight into how graft vs.
Bausenwein, Judith, Falkenburg, J. H. Frederik, Griffioen, Marieke, Honders, Maria W., Kremer, Andreas E., Kremer, Anita N., Kretschmann, Sascha, Lurvink, Ellie, Mackensen, Andreas, Mazzeo, Daniela, Rutten, Caroline E., van Bergen, Cornelis A. M., van der Meijden, Edith, Watts, Colin   +13 more
core   +2 more sources

Case Report: Profound newborn leukopenia related to a novel RAC2 variant

Frontiers in Pediatrics
We report the case of a 1-week-old male born full-term, who had two inconclusive severe combined immunodeficiency (SCID) newborn screens and developed scalp cellulitis and Escherichia coli bacteremia.
Geoffrey Hall, Ágnes Donkó, Cristina Pratt, Julie J. Kim-Chang, Paul L. Martin, Amy P. Stallings, John W. Sleasman, Steven M. Holland, Amy P. Hsu, Thomas L. Leto, Talal Mousallem   +10 more
doaj   +1 more source

Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease‐causing variants

Molecular Genetics & Genomic Medicine, 2022
Background Hyperphenylalaninemia (HPA) is the most common inborn error of amino acid metabolism worldwide. At least 2% of HPA cases are caused by a deficiency in tetrahydrobiopterin (BH4) metabolism.
Seyedeh Helia Sadat Fatemi, Peyman Eshraghi, Mahmoud Ghanei, Tayebeh Hamzehloei   +3 more
doaj   +1 more source

A NovelSHOC2Variant in Rasopathy [PDF]

Human Mutation, 2014
Rasopathies are a group of genetic disorders caused by germline mutations in multiple genes of the Extracellular signal-Regulated Kinases 1 and 2 (ERK1/2) pathway. The only previously identified missense mutation in SHOC2, a scaffold protein of the ERK1/2 pathway, led to Noonan-like syndrome with loose anagen hair.
Vickie, Hannig, Myoungkun, Jeoung, Eun Ryoung, Jang, John A, Phillips, Emilia, Galperin   +4 more
openaire   +2 more sources

Real‐World Pediatric Blinatumomab Administration: Access to Outpatient Care Delivery and Impact of a Hospital‐Dispensed Model

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Blinatumomab has been shown to be highly effective for patients with pediatric B‐ALL and has recently become standard of care therapy. Due to its past use in the clinical trial setting, there is limited information available about real‐world administration.
Katelyn Oranges, Kelly A. Duffy, Sara McDonough, Evelyn Kurpiewski, R. Jennifer Randall, Allison Barz Leahy, Haley M. Newman, Joyce P. Lee, Stephen P. Hunger, Anne F. Reilly, David T. Teachey, Susan R. Rheingold, Daniel J. Zheng   +12 more
wiley   +1 more source

Molecular diagnosis of haemophilia A: four novel variants identified in five patients [PDF]

, 2020
Aims/Context: Haemophilia A (HMA) is an X-linked bleeding disorder caused by reduced levels of the coagulation factor VIII (FVIII) due to alterations in the F8 gene. Decreased levels of FVIII activity leads to a loss of clotting activity and to bleeding (
Antunes, Ema, Certã, Rita, Cruz, Eugénia, Diniz, Maria João, Gonçalves, João, Kjollerstrom, Paula, Morais, Sara, Moreira, Isabel   +7 more
core  

Finger Search in Grammar-Compressed Strings [PDF]

, 2016
Grammar-based compression, where one replaces a long string by a small context-free grammar that generates the string, is a simple and powerful paradigm that captures many popular compression schemes.
Bille, Philip, Christiansen, Anders Roy, Cording, Patrick Hagge, Gørtz, Inge Li   +3 more
core   +3 more sources