Results 31 to 40 of about 616,961 (234)
Pediatric Blood &Cancer, EarlyView.Abstract Background Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy affecting millions of individuals worldwide. The clinical expression and psychosocial burden of SCD vary widely across geographical, cultural, and healthcare system contexts, underscoring the need for setting‐specific approaches to assessment.
Desiré Fantasia +7 more
wiley +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Neuroblastoma is the most common extracranial solid tumor in early childhood. Its clinical behavior is highly variable, ranging from spontaneous regression to fatal outcome despite intensive treatment. The International Society of Pediatric Oncology Europe Neuroblastoma Group (SIOPEN) Radiology and Nuclear Medicine Specialty Committees ...
Annemieke Littooij +11 more
wiley +1 more source
Rare Genetic Diseases: Nature's Experiments on Human Development
iScience, 2020 Rare genetic diseases are the result of a continuous forward genetic screen that nature is conducting on humans. Here, we present epistemological and systems biology arguments highlighting the importance of studying these rare genetic diseases.
Chelsea E. Lee +3 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Primary lung carcinomas and bronchial carcinoid tumors (BC) are very rare malignancies in childhood. While typical BC and mucoepidermoid carcinomas are mostly low‐grade, localized tumors with a more favorable prognosis than in adults, necessitating avoidance of overtreatment, adenocarcinomas of the lung are often diagnosed at advanced disease ...
Michael Abele +19 more
wiley +1 more source
CardiogeneticsSince the first description of catecholaminergic polymorphic ventricular tachycardia (CPVT) in the 1970s, new insights have progressively unraveled the understanding of this inherited arrhythmia syndrome.
Alessandra P. Porretta +2 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Introduction Adolescent siblings of children with cancer are at elevated risk for psychosocial problems. Unfortunately, various barriers such as limited family time and resources, conflicting schedules, and psychosocial staffing constraints at cancer centers hinder sibling access to support.
Christina M. Amaro +10 more
wiley +1 more source
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 +23 more
wiley +1 more source
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families
Frontiers in Genetics, 2019 Prenatal ultrasound (US) abnormalities often pose a clinical dilemma and necessitate facilitated investigations in the search of diagnosis. The strategy of pursuing fetal whole-exome sequencing (WES) for pregnancies complicated by abnormal US findings is
Lior Greenbaum +22 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Purpose Chemoimmunotherapy with irinotecan, temozolomide, and dinutuximab (I/T/DIN) has emerged as first‐line therapy for relapsed/refractory (r/r) high‐risk neuroblastoma (HRNB) in North America. Topotecan and cyclophosphamide (T/C) are often used in combination with dinutuximab in the setting of lack of response, progression, or incomplete ...
Benjamin J. Lerman +17 more
wiley +1 more source
iScienceSummary: Endometriosis affects a substantial number of women of reproductive age, yet current diagnostic methods rely on invasive procedures. To address this limitation, we investigated THBS1 as a potential biomarker and regulator of disease progression.
Liqi Zhang +6 more
doaj +1 more source