Key result
Four fetuses from a non-consanguineous couple presented with a remarkably similar malformation syndrome comprising left diaphragmatic hernia, heart malformation, and non-obstructive hydrocephalus, suggesting a novel autosomal recessive etiology.
Why the study?
Does activated prothrombin complex concentrate (FEIBA) improve hemostatic effectiveness in patients with acute bleeding on apixaban or rivaroxaban?
Population
n=147 patients with an acute bleeding event on apixaban or rivaroxaban
Design
Cohort
Follow-up
hospital admission
Authors
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May inform genetic counseling for recurrent fetal malformations; leaves open identification of the causative variant.
Does activated prothrombin complex concentrate (FEIBA) improve hemostatic effectiveness in patients with acute bleeding on apixaban or rivaroxaban?
FEIBA appears to be a safe and effective off-label reversal agent for apixaban and rivaroxaban in patients with acute bleeding, achieving good hemostasis in 78% of patients with low thrombotic risk.
C.D. DeLozier-Blanchet (2001) conducted a letter in Diaphragmatic hernia, hydrocephalus, and cardiac malformations (n=4). Autosomal recessive malformation syndrome was evaluated. Four fetuses from a non-consanguineous couple presented with a remarkably similar malformation syndrome comprising left diaphragmatic hernia, heart malformation, and non-obstructive hydrocephalus, suggesting a novel autosomal recessive etiology.
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