Results 81 to 90 of about 1,069,421 (301)

Financial Burden Associated With Hospitalisation Among Families of Childhood Brain Tumours in Australia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Families of children with cancer experience significant financial strain, even with universal healthcare. Indirect costs, such as productivity losses and non‐medical expenses, are rarely included in economic evaluations, and little is known about how effectively financial aid programmes alleviate this burden. Childhood brain tumours
Megumi Lim, Natalie Bradford, David Brain, Sameera Senanayake, Sanjeewa Kularatna, Kate Young, Christine Cashion, Tim Hassall, Susanna Cramb   +8 more
wiley   +1 more source

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Renormalization group scaling in nonrelativistic QCD [PDF]

, 1999
We discuss the matching conditions and renormalization group evolution of non-relativistic QCD. A variant of the conventional MS-bar scheme is proposed in which a subtraction velocity nu is used rather than a subtraction scale mu.
A. Czarnecki, A. Pineda, A. Pineda, A. Pineda, A. Pineda, A.H. Hoang, A.H. Hoang, A.V. Manohar, Aneesh V. Manohar, B. Blok, B. Grinstein, C. Bauer, G.T. Bodwin, H. Georgi, H. Leutwyler, H.W. Griesshammer, Ira Z. Rothstein, M. Beneke, M. Beneke, M. Beneke, M. Luke, M. Luke, M. Luke, M.B. Voloshin, Michael E. Luke, P. Labelle, S. Titard, S. Titard, T. Appelquist, T. Appelquist, W. Fischler, W.E. Caswell   +31 more
core   +2 more sources

Novel Alternative Splice Variants of Mouse Cdk5rap2

PLOS ONE, 2015
Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized by a pronounced reduction of brain volume and intellectual disability. A current model for the microcephaly phenotype invokes a stem cell proliferation and differentiation defect, which has moved the disease into the spotlight of stem cell biology and ...
Kraemer, Nadine, Issa-Jahns, Lina, Neubert, Gerda, Ravindran, Ethiraj, Mani, Shyamala, Ninnemann, Olaf, Kaindl, Angela M   +6 more
openaire   +6 more sources

Health‐Related Quality of Life and Symptom Severity Among Patients With PIK3CA‐Related Overgrowth Spectrum: A Mixed‐Methods Study to Understand Real‐World Experience With Alpelisib Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu, Kaitlin LaGasse, Cory D. Saucier, Kimberly Raymond, Miranda Lauher‐Charest, Lauren Crowder, Beilei Cai, Mary Lisha Paul, Denise Adams   +8 more
wiley   +1 more source

Coinduction up to in a fibrational setting [PDF]

, 2014
Bisimulation up-to enhances the coinductive proof method for bisimilarity, providing efficient proof techniques for checking properties of different kinds of systems.
Caucal D., Dam M., Fiore M., Jacobs B., Lenisa M., Milner R., Pous D., Pous D., Silva A., Simpson A.   +9 more
core   +5 more sources

Case Report: Novel pathogenic variant in autosomal recessive WNT10A-related odonto-onycho-dermal dysplasia

Frontiers in Genetics
Odonto-onycho-dermal dysplasia (OODD) is a rare, autosomal recessive disorder caused by pathogenic variants in the WNT10A gene, which plays a crucial role in ectodermal tissue development, including teeth, hair, nails, and skin.
Marianna Kalaszi, Ciaran Moore, Chrysoula Koniari, Theodoros Mavridis   +3 more
doaj   +1 more source

‘They Need to Hear You Say It’: Healthcare Professionals’ Perspectives on Barriers and Enablers to End‐of‐Life Discussions With Adolescents and Young Adults With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT End‐of‐life conversations with adolescents and young adults (AYAs) with cancer rarely occur without the guidance of healthcare professionals. As a part of the ‘Difficult Discussions’ study, focused on palliative care and advance care planning discussions with AYAs with cancer, we investigated the factors that healthcare professionals identify ...
Justine Lee, Holly Evans, Claire E. Wakefield, Antoinette Anazodo, Richard J. Cohn, Brittany C. McGill, Elizabeth A. Lobb, Lori Wiener, Madeleine L. Juhrmann, Ursula M. Sansom‐Daly   +9 more
wiley   +1 more source

New extractive configuration separating azeotropic mixture in semi-batch way [PDF]

, 2006
A new variant of batch extractive distillation, the so-called inverse-fed batch extractive distillation is presented. The total amount of the entrainer is pre-loaded to the boiler, and the mixture charge to be separated is continuously fed to the column ...
Fonyo, Zsolt, Horvath, Laszlo, Lelkes, Zoltan, Meyer, Michel, Rev, Endre, Stéger, Csaba   +5 more
core   +2 more sources

Case Report: A novel likely pathogenic GCK variant in a young Chinese girl with severe insulin resistance

Frontiers in Endocrinology
ObjectiveTo report a novel GCK variant (c.263T>C) identified in a patient with glucokinase-maturity-onset diabetes of the young (GCK-MODY) and to evaluate its pathogenicity and potential structural impact using in silico analyses.
Haoyu Bai, Jie Yu, Tong Wang, Jing Ren, Chuhan Shao, Qian Zhang, Xinhua Xiao   +6 more
doaj   +1 more source