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Whole Exome Sequencing Revealing a Novel PBX1 Gene Variant in a Chinese Family Causing Recurrent Neonatal Death

Birth Defects Res. 2024 Aug;116(8):e2396. doi: 10.1002/bdr2.2396. ABSTRACT BACKGROUND: Causative mutations of PBX1 are associated with congenital abnormalities of the kidney and urinary tract (CAKUT), …

Pediatric cancer screening in hereditary gastrointestinal cancer risk syndromes: An update from the AACR Childhood Cancer Predisposition Working Group

Clin Cancer Res. 2024 Aug 27. doi: 10.1158/1078-0432.CCR-24-0953. Online ahead of print. ABSTRACT Gastrointestinal (GI) polyposis and cancer in pediatric patients is frequently due to …

Emapalumab therapy for hemophagocytic lymphohistiocytosis prior to reduced-intensity transplantation improves chimerism

Blood. 2024 Aug 27:blood.2024025977. doi: 10.1182/blood.2024025977. Online ahead of print. ABSTRACT Hemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory disorder driven by interferon-gamma (IFN-γ). Emapalumab, an anti-IFN-γ …