POT1 Mutations Drive Lymphoid Malignancy Through Ultralong Telomeres
Pathogenic POT1 variants increase lymphoma risk eightfold by extending cellular longevity and promoting age-dependent clonal expansion.
Quality Improvement Shortens Time to Antibiotics in Pediatric Intestinal Failure
Multidisciplinary interventions reduced median cephalosporin delivery time by 58% for children with suspected central line infections.
Early Chelation Prevents Cardiac Iron Overload in Diamond–Blackfan Anemia
A retrospective study of 64 infants shows that initiating chelation at a median age of 18 months reduces ferritin and protects the heart.
IVC to Aorta Ratio Tracks Fluid Response but Lacks Clinical Correlation
Ultrasound metrics of the inferior vena cava change after fluid boluses in pediatric shock but do not align with heart rate or shock index.
CFTR Modulators Reduce 8-Year Mortality Risk by 7.2% in Cystic Fibrosis
A registry-based cohort study of 25,103 individuals shows a 66% reduction in the hazard of death following modulator initiation.
Child Maltreatment Linked to Systemic Homeostatic Dysregulation
Recent trauma in children may disrupt physiological stability and delay development in males rather than accelerating biological aging.
SSPOP Gene Mutations Linked to Pediatric Epilepsy and Developmental Delay
Researchers identify pathogenic variants in a presumed pseudogene, expanding the diagnostic landscape for unexplained seizure disorders.
Perinatal Cash Transfers Linked to 32% Drop in Infant Maltreatment Reports
A study of Flint's Rx Kids program shows unconditional cash support significantly reduces child protective services investigations.
Advanced Paternal Age Increases Autism Risk in Grandchildren via Female Lineage
A registry study of 12.6 million people shows that a grandfather's age at his daughter's birth influences his grandchildren's autism risk.
Prenatal SRI Exposure Linked to Altered Fetal Brain and Placental Growth
MRI data show reduced hippocampal volume and cortical folding in fetuses exposed to antidepressants or high maternal depression scores.
Iron and Lead Levels Linked to Brain Microstructure in Autistic Language Delay
Low serum iron and high lead levels correlate with reduced neurite complexity in language-processing regions of children with autism.
SPAST Variant Mapping Predicts Disease Trajectory in Spastic Paraplegia Type 4
Genetic essentiality mapping and neurofilament levels differentiate rapid functional decline from moderate biphasic progression in SPG4.