Investigation of a hemophilia family with one female hemophilia A patient and 12 male hemophilia A patients.

Hemophilia A (HA) is an X-chromosome-linked recessive genetic disorder. Female carriers may have bleeding symptoms, but rarely have moderate or severe disease. We identified a female patient with moderate HA by pedigree tracking and genetic testing in a HA family involving consanguineous marriage.

Real-world use of emicizumab in Chinese children with hemophilia A: Retrospective data from a comprehensive care center.

Importance: Emicizumab (EMI) is efficacious and safe for hemophilia A (HA) prophylaxis. However, its high cost poses a challenge in China.

Objective: To explore the possibility of using reduced-dosage EMI in Chinese HA children.

The history of women and hemophilia: a narrative review of evolving beliefs and testing practices.

The history of hemophilia is well-documented, yet reports focus heavily on the male-perspective and severe forms of the disease. Although hemophilia was initially believed to only affect men with women seen as silent carriers, it is now universally acknowledged that women and girls can also be affected. In this narrative review, we track the progression of beliefs about women and hemophilia as documented in the literature from pre-1800's to the present time.

Synthetic promoter design in based on multinomial diffusion model.

Generative design of promoters has enhanced the efficiency of creation of functional sequences. Though several deep generative models have been employed in biological sequence generation, including variational autoencoder (VAE) or Wasserstein generative adversarial network (WGAN), these models might struggle with mode collapse and low sample diversity. In this study, we introduce the multinomial diffusion model (MDM) for promoter sequence design and propose a structured set of criteria for effectively comparing the performance of generative models.