Results 61 to 70 of about 1,217,808 (321)
Frontiers in GeneticsPurposeClinical genetic testing is increasingly integrated in managing and diagnosing cardiac conditions and disease. It is important to identify ongoing challenges.
Kerstin Hundal +10 more
doaj +1 more source
Atypical parkinsonism: An Update. [PDF]
, 2013 Purpose of review: This update discusses novel aspects on genetics, diagnosis, and treatments of atypical parkinsonism published over the past 2 years. Recent findings: A genome-wide association study identified new genetic risk factors for progressive ...
Hoeglinger, GU, Stamelou, M
core +1 more source
Lifestyle Behaviors and Cardiotoxic Treatment Risks in Adult Childhood Cancer Survivors
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Higher doses of anthracyclines and heart‐relevant radiotherapy increase cardiovascular disease (CVD) risk. This study assessed CVD and CVD risk factors among adult childhood cancer survivors (CCSs) across cardiotoxic treatment risk groups and examined associations between lifestyle behaviors and treatment risks.
Ruijie Li +6 more
wiley +1 more source
Portrayal of psychiatric genetics in Australian print news media, 1996-2009 [PDF]
, 2011 Objective: To investigate how Australian print news media portray psychiatric genetics. Design and setting: Content and framing analysis of a structured sample of print news items about psychiatric genetics published in Australian newspapers between 1996
Bonfiglioli, C +4 more
core +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT We present two pediatric cases of pediatric low‐grade gliomas (PLGG) with BRAF V600E mutations diagnosed and monitored using cerebrospinal fluid (CSF) liquid biopsy analyzed via digital droplet PCR (ddPCR), without tissue biopsy. Both patients were treated with dabrafenib and trametinib and monitored through clinical assessments, magnetic ...
Hannah Sultan +5 more
wiley +1 more source
New variants of ABCA12 in harlequin ichthyosis baby
Journal of Pediatric and Neonatal Individualized Medicine, 2018 Harlequin ichthyosis (HI) is an extremely rare genetic skin disorder and the most severe form of a group of disorders, which includes lamellar ichthyosis and congenital ichthyosiform erythroderma.
Sara Peixoto +5 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Ongoing evidence indicates increased risk of sarcopenic obesity among children and young people (CYP) with acute lymphoblastic leukemia (ALL), often beginning early in treatment, persisting into survivorship. This review evaluates current literature on body composition in CYP with ALL during and after treatment.
Lina A. Zahed +5 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
iScience, 2022 Summary: Homozygous familial hypercholesterolemia (HoFH) is an extremely rare metabolism disorder usually caused by low-density lipoprotein receptor (LDLR) mutations.
Zhiyong Du +8 more
doaj +1 more source
Parent‐to‐Child Information Disclosure in Pediatric Oncology
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Despite professional consensus regarding the importance of open communication with pediatric cancer patients about their disease, actual practice patterns of disclosure are understudied. Extant literature suggests a significant proportion of children are not told about their diagnosis/prognosis, which is purported to negatively ...
Rachel A. Kentor +12 more
wiley +1 more source