One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.

Leukopoiesis is lethally arrested in mice lacking the master transcriptional regulator PU.1. Depending on the animal model, subtotal PU.

Effect of Food Intake or Coadministration With an Acid-Reducing Agent on Lenacapavir Pharmacokinetics Following Oral Administration.

Lenacapavir is a potent, long-acting HIV-1 capsid inhibitor used in combination with other antiretrovirals to treat HIV-1 infection. The pharmacokinetics of orally administered drugs may be affected by food intake or coadministration of acid-reducing agents (ARA). Two Phase 1 studies were conducted on healthy participants to evaluate the effect of food and the impact of the histamine H-receptor antagonist famotidine in parallel cohorts.

Fibrinolytic Changes in Critical Illnesses: Is Fibrinolysis Shutdown a Specific Concept?

Trauma-induced coagulopathy (TIC) is characterized by dynamic changes in fibrinolysis, which can significantly impact patient outcomes. These changes typically manifest in two phases: hyperfibrinolysis followed by fibrinolysis suppression. In the early stages of TIC, there is often an overwhelming release of tissue plasminogen activator, which leads to excessive fibrinolysis.

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.

Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) is a rare autosomal dominant syndrome caused by pathogenic variants in the BRPF1 gene, which is critical for chromatin regulation. This study expands the clinical and molecular spectrum of IDDDFP by analysing 29 new patients from 20 families with confirmed BRPF1 variants. Our cohort presented with a wide range of clinical features including developmental delay, intellectual disability (ID) and characteristic dysmorphic facial features such as ptosis, blepharophimosis and a broad nasal bridge.