Results 51 to 60 of about 6,319,608 (297)
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background The Standards for Psychosocial Care for Children with Cancer and Their Families (“Standards”) are evidence‐based guidelines for psychosocial care in pediatric oncology. Care related to the three “Asking and Monitoring” Standards—Assessment of Psychosocial Needs, Assessment of Financial Needs, and Monitoring Neurocognitive Problems ...
Julia B. Tager +8 more
wiley +1 more source
variant causes a lethal mitochondrial disease with progeria‐like phenotypes [PDF]
, 2023 APOO/MIC26 is a subunit of the MICOS complex required for mitochondrial cristae morphology and function. Here, we report a novel variant of the APOO/MIC26 gene that causes a severe mitochondrial disease with overall progeria-like phenotypes in two ...
Melissa Lubeck +15 more
core +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
Global Efforts to Reduce Paediatric Cancer Care Disparities in Radiotherapy: A Decade Change
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background We present an update on the status, needs and challenges faced by paediatric imaging and radiotherapy (RT) programmes globally after a previous survey conducted by the International Atomic Energy Agency (IAEA) 10 years prior. Methods We developed and distributed a 121‐question survey to radiation oncologists, medical physicists and ...
Raymond B. Mailhot Vega +10 more
wiley +1 more source
Advances in Clinical Genetics of the Ehlers-Danlos Syndromes
罕见病研究The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
XU Kexin +8 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo +11 more
wiley +1 more source
Empowerment: Qualitative underpinning of a new clinical genetics-specific patient-reported outcome [PDF]
, 2010 Recent qualitative research developed a new construct labelled Empowerment describing a new patient outcome from using clinical genetics services that included four dimensions: Knowledge and Understanding, Decision-Making, Instrumentality and Future ...
Dunn, Graham +6 more
core +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT We assessed the effect of iron overload (IO) on mortality and complications following hematopoietic stem cell transplantation (HSCT) in patients with Diamond–Blackfan anemia syndrome (DBAS) in a systematic review of individual participant data and cohort data from observational studies.
Geoffrey Z. L. Kuppens +6 more
wiley +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Purpose Next‐generation sequencing (NGS) has emerged as a promising approach to improve diagnostic accuracy, but its feasibility in low‐ and middle‐income countries remains unknown. This study characterized the diagnostic landscape and assessed organizational readiness for NGS implementation at two childhood cancer treatment centers in Accra ...
Melissa Carvalho +6 more
wiley +1 more source
Genetics in clinical practice: general practitioners' educational priorities in European countries
, 2008 PURPOSE: To assess how general practitioners (GPs) from European countries prioritized their genetic educational needs according to their geographic, sociodemographic, and educational characteristics.
Schmidtke, Joerg +41 more
core +1 more source