Results 61 to 70 of about 5,372,923 (315)
Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics [PDF]
Childhood Kidney DiseasesWith the rapid evolution of diagnostic tools, particularly next-generation sequencing, the identification of genetic diseases, predominantly those with pediatric-onset, has significantly advanced. However, this progress presents challenges that span from
Soo Yeon Kim
doaj +1 more source
BioMed Research International, 2015 There is no question that the rapid advance in genetic technology is changing our viewpoint on medical practice, which is dramatically improving the diagnosis, prognosis, and therapy of human genetic disease. In particular, the next-generation sequencing (NGS) technologies, such as exome sequencing and whole-genome sequencing, and gene editing ...
Hao Deng +5 more
openaire +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Adolescents with high‐risk cancer face complex developmental, psychosocial, and ethical challenges that extend beyond disease‐directed treatment. Although international recommendations exist for communication, psychosocial care, pediatric palliative care, survivorship, and shared decision‐making, these have largely evolved within ...
Johanna M. C. Blom +15 more
wiley +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Loneliness is associated with adverse physical and mental health outcomes and remains understudied in children and adolescents undergoing cancer therapy. Pediatric oncology patients may be at increased risk due to medical isolation and disruption of social networks.
Charlotte N. Stahlfeld +5 more
wiley +1 more source
Different DNA Sequencing Using DNA Graphs: A Study
Applied Sciences, 2022 Natural genetic material may shed light on gene expression mechanisms and aid in the detection of genetic disorders. Single Nucleotide Polymorphism (SNP), small insertions and deletions (indels), and major chromosomal anomalies are all chromosomal ...
Abdulaziz M. Alanazi +3 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Children with sickle cell anemia (SCA) in low‐income settings are at risk of severe malnutrition, but optimal nutritional management has not been established. We evaluated an intensified ready‐to‐use therapeutic food (RUTF) regimen in children with persistent severe malnutrition after initial treatment and assessed whether early ...
Safiya Gambo +9 more
wiley +1 more source
Egyptian Journal of Medical Human GeneticsBackground −1031 (T/C) and AA for − 308 (G/A) showing a higher risk for disease susceptibility (OR = 3.5 and 8.7, respectively) and severity (OR = 1.99 and 8.59, respectively). Elevated levels of all biochemical markers were significantly correlated with
M. L. N. Deepika +2 more
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Genetics of Alzheimer's Disease [PDF]
Dementia and Neurocognitive Disorders, 2018 Alzheimer's disease (AD) related genes have been elucidated by advanced genetic techniques. Familial autosomal dominant AD genes founded by linkage analyses are APP, PSEN1, PSEN2, ABCA7, and SORL1. Genome-wide association studies have found risk genes such as ABCA7, BIN1, CASS4, CD33, CD2AP, CELF1, CLU, CR1, DSG2, EPHA1, FERMT2, HLA-DRB5-HLA-DRB1 ...
openaire +2 more sources
Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine +17 more
wiley +1 more source
EMBO Molecular MedicineBarth syndrome (BTHS) is a rare X-linked recessively inherited disorder caused by variants in the TAFAZZIN gene, leading to impaired conversion of monolysocardiolipin (MLCL) into mature cardiolipin (CL).
Bauke V Schomakers +18 more
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