Results 101 to 110 of about 1,156,853 (299)

Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. [PDF]

, 2018
Recent evidence has implicated EFL1 in a phenotype overlapping Shwachman-Diamond syndrome (SDS), with the functional interplay between EFL1 and the previously known causative gene SBDS accounting for the similarity in clinical features. Relatively little
Bacino, Carlos A, Bonner, Melanie J, Butler, Megan W, Cope, Heidi, Frush, Donald P, Jiang, Yong-Hui, Lachman, Ralph S, Lee, Brendan, McCall, Chad M, McDonald, Marie T, Pena, Loren DM, Pendse, Avani A, Rothman, Jennifer A, Shashi, Vandana, Spillmann, Rebecca C, Stong, Nicholas, Tan, Queenie K-G, Undiagnosed Diseases Network, Walley, Nicole   +18 more
core  

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

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

BMC Medical Genomics, 2018
Background Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis in paediatrics. However, it has not been widely adopted in the prenatal setting. This study evaluated the use of WES in prenatal genetic diagnosis in fetuses with
Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Wilfred H S Wong, Mandy H Y Tsang, Mullin H C Yu, Steven L C Pei, K S Yeung, Gary T K Mok, C P Lee, Amelia P W Hui, Mary H Y Tang, Kelvin Y K Chan, Anthony P Y Liu, Wanling Yang, P C Sham, Anita S Y Kan, Brian H Y Chung   +17 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

Feasibility and Safety of High‐Dose Proton Re‐Irradiation in Recurrent Pediatric Central Nervous System Tumors: A Single‐Institution Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Pediatric central nervous system (CNS) tumors often recur despite multimodality therapy. Although re‐irradiation (re‐RT) has historically been limited by concerns for severe late toxicities, modern techniques have renewed interest in this approach. Proton therapy provides dosimetric advantages that may enable curative re‐treatment with
Jin‐Ho Song, Jonathan Baron, Carlos Chavez Perez, Sidharth Ramesh, Jane Minturn, Kavita A. Desai, Amish C. Shah, Jean M. Belasco, Kristina A. Cole, Michael J. Fisher, Phillip B. Storm, Peter M. Madsen, Goldie Kurtz, Robert A. Lustig, Christine Hill‐Kayser, Michael J. LaRiviere   +15 more
wiley   +1 more source

Defining Roles in Pediatric Palliative Care: Perspectives From Oncology and Palliative Care Teams

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Early integration of pediatric palliative care (PPC) is associated with improved symptom management, quality of life, and healthcare utilization for children with cancer. Despite this, variation persists in how PPC is understood, operationalized, and integrated within pediatric oncology programs. In particular, ambiguity surrounding
Leeat Granek, Lori Wiener, Stephanie Veldhuijzen van Zanten, Donna Johnston, Fyeza Hasan, Adam Rapoport, Nathasha Datoo, Kimberley Widger, Sumit Gupta, Karen Fergus, Anthony K. C. Chan, Alisha Kassam, Emily McCullogh, Dave Lysecki   +13 more
wiley   +1 more source

NGS Panels applied to Hereditary Cancer Syndromes [PDF]

, 2019
Cancer is among the leading causes of morbidity and mortality worldwide (Okur et al, 2017). Germline pathogenic variants for monogenic, highly penetrant cancer susceptibility genes are observed in 5%–10% of all cancers (Lu et al, 2014).
Gonçalves, João, Rodrigues, Pedro, Silva, Catarina, Theisen, Patrícia, Vieira, Luís   +4 more
core  

Feasibility and Preliminary Efficacy of Integrative Neuromuscular Training for Childhood Cancer Survivors: A Pilot Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Survivors of childhood acute lymphoblastic leukemia (ALL) often exhibit early deficits in muscle and movement competence, which can compromise long‐term health. Integrative neuromuscular training (INT), a multifaceted approach combining fundamental movement activities with strength exercises, may help address these deficits during ...
Anna Maria Markarian, Robert U. Newton, Dennis R. Taaffe, Nicholas G. Gottardo, Santosh Valvi, Carolyn J. Peddle‐McIntyre, Jodie Cochrane Wilkie, Daniel A. Galvão   +7 more
wiley   +1 more source

The Role of Invasive Procedures in the Treatment of Complicated Gastrointestinal Graft‐Versus‐Host Disease in Pediatric Patients

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Gastrointestinal graft‐versus‐host disease (GI GVHD) following hematopoietic stem cell transplant is typically managed with medical therapy, but surgery and angioembolization may be warranted in selected cases with life‐threatening complications.
Gaia Brunetti, Giorgio Persano, Chiara Grimaldi, Pier Luigi Di Paolo, Carmen Malaspina, Francesco Quagliarella, Valerio Balassone, Anna Chiara Iolanda Contini, Gian Luigi Natali, Rita Alaggio, Ivan Pietro Aloi, Tamara Caldaro, Alessandro Crocoli   +12 more
wiley   +1 more source

Prophylatic treatment of migraine and migraine clinical variants with topiramate: an update

Therapeutics and Clinical Risk Management, 2009
Sergio Carmona1, Osvaldo Bruera1,21Department of Neuro-otology and Pain and Headache, Instituto de Neurociencias de Buenos Aires INEBA, Buenos Aires, Argentina; 2Department of Pain and Headache, Fundación Favaloro, Buenos Aires ...
Sergio Carmona, Osvaldo Bruera
doaj