Results 51 to 60 of about 3,039,543 (317)

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Improved chromosome-level genome assembly of Indian sandalwood (Santalum album)

Scientific Data, 2023
Santalum album is a well-known aromatic and medicinal plant that is highly valued for the essential oil (EO) extracted from its heartwood. In this study, we present a high-quality chromosome-level genome assembly of S.
Xinhua Zhang, MingZhi Li, Zhan Bian, Xiaohong Chen, Yuan Li, Yuping Xiong, Lin Fang, Kunlin Wu, Songjun Zeng, Shuguang Jian, Rujiang Wang, Hai Ren, Jaime A. Teixeira da Silva, Guohua Ma   +13 more
doaj   +1 more source

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

Clinical and Biological Features of Response in Resistant Neuroblastoma to 131I‐Metaiodobenzylguanidine Radiotherapy in the Anti‐GD2 Immunotherapy Era

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background 131I‐metaiodobenzylguanidine (131I‐MIBG) radiotherapy is a key treatment for relapsed and refractory (R/R) neuroblastoma (NB). Patients with R/R disease treated in the modern era are increasingly exposed to anti‐GD2 immunotherapy, which exerts selective pressure and may modify both tumor cell state and microenvironment.
Benjamin J. Lerman, Katherine K. Matthay, Fabienne Hollinger, Catriona Black, Ann A. Lazar, Miguel Pampaloni, Steven G. DuBois, Kieuhoa T. Vo   +7 more
wiley   +1 more source

"Population variation of Common Cystic Fibrosis Mutations"

, 1994
Since the identification of the gene and the major mutation responsible for cystic fibrosis (CF) in 1989, more than 400 presumed mutations and about 90 DNA sequence variations have been identified in the cystic fibrosis transmembrane conductance ...
Cheadle, Jeremy Peter, GASPARINI, PAOLO, THE CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM, Dumoulin, Christine   +3 more
core   +1 more source

Hospitalization Through Families’ Eyes: Comparing Inpatient Care Quality for Children With Sickle Cell Disease and Cystic Fibrosis in Canada

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Sickle cell disease (SCD) is a chronic, inherited hemoglobinopathy that requires frequent hospitalization for disease‐related complications. Canadian data on inpatient care is limited. This study compared caregiver‐reported hospital experiences of children with SCD to those with cystic fibrosis (CF), a chronic, autosomal recessive ...
Hailey M. Zwicker, Kyle Kemp, Perri Tutelman, Sharon H. J. Hou, Paul Fairie, Maria Santana, Gregory M. T. Guilcher, Taryn Fay‐McClymont, Glenda Bendiak, Wendy Pelletier, Nicola Wright, Fiona Schulte   +11 more
wiley   +1 more source

Case Report: Afatinib Sensitivity in Rare EGFR E746_L747delinsIP Mutated LUAD With Peritoneal Metastases

Frontiers in Oncology, 2022
Patients with non-small cell lung cancer harboring the epidermal growth factor receptor (EGFR)-sensitive mutations are known to benefit significantly from EGFR tyrosine kinase inhibitors (TKIs), such as erlotinib, gefitinib, icotinib, or afatinib ...
Lili Zhang, Lili Zhang, Lu Yang, Binxu Sun, Binxu Sun, Yixiao Deng, Jie Yang, Dongfang Wu, Fanming Kong, Fanming Kong   +9 more
doaj   +1 more source

A Genetic Analysis of the Pyridoxine Auxotrophs of Neurospora crassa [PDF]

, 1966
Evidence of gene conversion and inter=allelic complementation from earlier work on the pdx-1 locus of Neurospora crassa suggested that a more detailed analysis of this locus should lead to a better understanding of these genetic phenomenao The work ...
Radford, Alan
core  

Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia [PDF]

, 2020
Frontotemporal dementia is a heterogeneous neurodegenerative disorder characterized by neuronal loss in the frontal and temporal lobes. Despite progress in understanding which genes are associated with the aetiology of frontotemporal dementia, the ...
Masellis, Mario, Heller, C, van Swieten, JC, Ryten, Mina, Bocchetta, M, Frisoni, Giovanni, Altmann, A, Otto, M, Ghidoni, R, Convery, Rhian S., Thomas, David L, Ducharme, S, Danek, A, Butler, Chris R, Sanchez-Valle, R, Moore, K, Galimberti, Daniela, Moreno, Fermin, Danek, Adrian, Sorbi, Sandro, Reynolds, R, Finger, Elizabeth, Gerhard, Alex, Rohrer, JD, Cash, David M., Santana, I, Levin, Johannes, van Swieten, John C, Tagliavini, Fabrizio, Rowe, James B., Otto, Markus, de Mendon\ue7a, Alexandre, Finger, E, Levin, J, Sanchez-Valle, Raquel, Masellis, M, Rohrer, Jonathan D., Reynolds, Regina, Rowe, James B, Synofzik, M, GENFI Genetic FTD Initiative, Vandenberghe, Rik, Rowe, JB, Borroni, B, Frisoni, G, Moore, Katrina, Graff, Caroline, Moreno, F, Bocchetta, Martina, Convery, RS, Santana, Isabel, Thomas, David L., Tartaglia, Maria Carmela, Butler, Chris R., Genetic FTD Initiative, GENFI, Tartaglia, MC, Graff, C, Laforce, Robert, Synofzik, Matthis, Laforce, R, Convery, Rhian S, Altmann, Andre, Thomas, DL, Tagliavini, F, Ducharme, Simon, Ryten, M, Cash, DM, Butler, CR, Gerhard, A, Cash, David M, Galimberti, D, Rohrer, Jonathan D, Vandenberghe, R, de Mendonca, Alexandre, Heller, Carolin, de Mendonça, A, Sorbi, S, Ghidoni, Roberta, Bruffaerts, Rose, Borroni, Barbara, van Swieten, John C., Swieten, John C. van   +81 more
core   +1 more source

Venous Thromboembolism in Pediatric Bone Sarcoma Patients: A 10‐Year, Single‐Institution Experience Encompassing the COVID‐19 Pandemic

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Osteosarcoma (OS) and Ewing sarcoma (EWS) are the most common primary bone cancers in children, but acute thrombosis is poorly characterized in this population. Our study evaluated the rates of venous thromboembolism (VTE) and associated risk factors in pediatric patients with bone sarcomas treated over a 10‐year period encompassing
Sarah Kappa, Shou Xu, Mark Zobeck, Sarah E. Sartain, Nino Rainusso, Lisa Wang, Nicole Montgomery, Paige Wheaton, Sarah Whittle   +8 more
wiley   +1 more source