Severe Hemophilia A in a Male Old English Sheep Dog with a C→T Transition that Created a Premature Stop Codon in Factor VIII.

Animals with hemophilia are models for gene therapy, factor replacement, and inhibitor development in humans. We have actively sought dogs with severe hemophilia A that have novel factor VIII mutations unlike the previously described factor VIII intron 22 inversion. A male Old English Sheepdog with recurrent soft-tissue hemorrhage and hemarthrosis was diagnosed with severe hemophilia A (factor VIII activity less than 1% of normal).

Translational data from adeno-associated virus-mediated gene therapy of hemophilia B in dogs.

Preclinical testing of new therapeutic strategies in relevant animal models is an essential part of drug development. The choice of animal models of disease that are used in these studies is driven by the strength of the translational data for informing about safety, efficacy, and success or failure of human clinical trials. Hemophilia B is a monogenic, X-linked, inherited bleeding disorder that results from absent or dysfunctional coagulation factor IX (FIX).

High altitude residence during pregnancy alters cytokine and catecholamine levels.

This study assessed the impact of high altitude residence during pregnancy on parameters of maternal immune and endocrine system function. Urinary catecholamines, and serum cytokines, estriol, and cortisol were assessed during pregnancy in women living at moderate or high altitude. Women residing at high altitude exhibited elevated levels of proinflammatory cytokines only during pregnancy, and tended to have higher levels of catecholamines during pregnancy than women living at lower altitude.