Results 31 to 40 of about 1,264,434 (268)

Genomic Diversity and Clinical Variability in Pediatric Primary Cutaneous Anaplastic Large Cell Lymphoma: A Case Series

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Primary cutaneous anaplastic large cell lymphoma (pcALCL) is a rare pediatric CD30‐positive T‐cell lymphoproliferative disorder with an excellent prognosis, but its genomic drivers are poorly defined. We report three children with skin‐limited disease demonstrating striking molecular heterogeneity, including NPM::ALK, NUP214::FRK, and a novel ...
Shoshana Greenberger, Efrat Bar‐Ilan, Victoria Marcu, Evgeny Grishin, Rinat Yacobi, Aviv Barzilai, Hana Golan, Assaf Arie Barg   +7 more
wiley   +1 more source

A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family

Bone Reports, 2021
Introduction: Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) (Inactivating PTH/PTHrP Signaling Disorders type 2, IPPSD2) are two rare autosomal disorders caused by loss-of-function mutations on either maternal or ...
Andreea Apetrei, Arnaud Molin, Nicolas Gruchy, Manon Godin, Claire Bracquemart, Antoine Resbeut, Gaëlle Rey, Gwenaël Nadeau, Nicolas Richard   +8 more
doaj   +1 more source

Central Nervous System Neuroblastoma, FOXR2‐Activated: A Pooled Analysis of Published Clinical Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) neuroblastoma, FOXR2‐activated, is a recently recognized entity in the WHO CNS5 classification, defined by activation of the FOXR2 transcription factor and unique histopathological features. This review synthesizes available literature and pooled clinical data, providing insight into demographics ...
Sudarshawn Damodharan, Mohamed S. Abdelbaki   +1 more
wiley   +1 more source

The Relationship Between Physical Activity and Left Ventricular Remodeling in Childhood Cancer Survivors Treated With Anthracyclines: A Cross‐Sectional Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Anthracycline‐related cardiac remodeling precedes heart failure in childhood cancer survivors. The objectives of this study were to determine the relationships between patient‐specific factors, moderate‐to‐vigorous physical activity (MVPA), and cardiac remodeling.
Hari K. Narayan, Sitong Chen, F. Lennie Wong, Nathan Young, Anna Qi, Christopher Davis, Sanjeet Hegde, Nicholas Gloude, Kasey J. Leger, Kelly D. Getz, Francisco Contijoch, Kirsten Ness, Bonnie Ky, Dennis Kuo, Sheri J. Hartman, Saro H. Armenian   +15 more
wiley   +1 more source

Solid Pseudopapillary Neoplasm of the Pancreas in Children and Adolescents: Expert Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Solid pseudopapillary neoplasm of the pancreas (SPN) is a rare low‐grade malignant exocrine pancreatic tumor, mostly discovered during the second decade of life in females, with a very good prognosis, provided microscopically complete surgical excision is achieved.
Sabine Irtan, Michael Abele, Calogero Virgone, Michaela Kuhlen, Ricardo Lopez‐Almarez, Tal Ben‐Ami, Ewa Bien, Maja Cesen, Malgorzata A. Krawczyk, Andrea Ferrari, Gianni Bisogno, Yves Reguerre, Dominik T. Schneider, Louise Galmiche, Jorg Fuchs, Sarah Braungart, Bilgehan Yalcin, Ines B. Brecht, Daniel Orbach   +18 more
wiley   +1 more source

Study on Calcified Alkali Leaching of Vanadium-Extracted Tailings and Preparation of Barium Orthovanadate

Nanomaterials
While vanadium-extracted tailings contain valuable components, their utilization is difficult due to their high sodium content. In this work, a new oxygen-pressure calcification and alkaline leaching strategy to achieve barium orthovanadate vanadium ...
Jinwei Qu, Yiqiu Wang, Xinyu Hao, Na Ma
doaj   +1 more source

Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca2+-dependent inactivation

Nature Communications, 2016
Timothy Syndrome (TS) is a multisystem disorder caused by two mutations leading to dysfunction of the CaV1.2 channel. Here, Dick et al. uncover a major and mechanistically divergent effect of both mutations on Ca2+/calmodulin-dependent inactivation of ...
Ivy E. Dick, Rosy Joshi-Mukherjee, Wanjun Yang, David T. Yue   +3 more
doaj   +1 more source

Vascular Calcification and Stone Disease: A New Look towards the Mechanism

Journal of Cardiovascular Development and Disease, 2015
Calcium phosphate (CaP) crystals are formed in pathological calcification as well as during stone formation. Although there are several theories as to how these crystals can develop through the combined interactions of biochemical and biophysical factors,
Allen J. Yiu, Daniel Callaghan, Razia Sultana, Bidhan C. Bandyopadhyay   +3 more
doaj   +1 more source

Ovarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider, Kris‐Ann Schultz, Nora Schnitzler, Michael Abele, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Ines B. Brecht, Maja Cesen, Andrea Ferrari, Michaela Kuhlen, Malgorzata A. Krawczyk, Ricardo Lopez‐Almaraz, Yves Reguerre, Calogero Virgone, Daniel Orbach   +15 more
wiley   +1 more source

Development and in vitro characterization of humanized antibodies for blocking human TRPM4 channel

Scientific Reports
Transient receptor potential melastatin 4 (TRPM4) channel, a monovalent cation channel, plays a crucial role in various neurological disorders. We previously showed that TRPM4 activity can be blocked by our antibodies: M4P, which targets rat TRPM4 and ...
Shunhui Wei, Charlene Priscilla Poore, Ravi Kumar Verma, See Wee Low, Bo Chen, Hao Fan, Ping Liao   +6 more
doaj   +1 more source