Joint bleeds in mild hemophilia: Prevalence and clinical characteristics.

INTRODUCTION: Joint bleeds are a common and frequent complication associated with hemophilia, increasing the risk of hemophilic arthropathy. It is important to define and characterize the presence of joint complications in mild hemophilia to develop strategies to mitigate disease burden. AIMS: To characterize the prevalence, clinical characteristics of joint bleeds, and risk factors that may lead to hemarthrosis in people with mild hemophilia. METHODS: Following Institutional Review Board approval, a retrospective chart review was conducted for patients with mild hemophilia seen at the Yale Hemophilia Treatment Center or Classical Hematology Program. RESULTS: The medical records of 70 patients were reviewed. Eighty one percent were male and 19 percent were female. Twenty individuals with mild hemophilia had a history of joint bleeding, 13 were traumatic bleeds, 7 were spontaneous. The age of first joint bleed ranged from 4 to 58 years old, with an average age of 20.8-years old. Ten patients developed joint bleeds between the ages of 10 and 20 years old. The most common locations of joint bleeding were the knee (n = 11) and ankle (n = 7). Eight of 70 patients had hepatitis C (HCV), 6 experienced joint bleeding. CONCLUSIONS: In this study, almost one third of patients with mild hemophilia experienced joint bleeding, often without history of trauma. Joint range of motion was abnormal in more than a third of the patients with mild hemophilia regardless. These data highlight the need for ongoing evaluation and characterization of joint health in individuals with mild hemophilia. HIGHLIGHTS: Twenty-nine percent of individuals with mild hemophilia had history of joint bleed. PwH and mild diseases with previous or current hepatitis C had higher likelihood of joint bleeding. Approximately 15% of PwH and mild diseases had abnormal joint examinations without a confirmed history of joint bleeding.

Sex-Specific Differences of Steroid Receptors Following Exposure to Environmentally Relevant Concentrations of Phenothiazine in Fundulus heteroclitus.

Phenothiazine (PTZ) is a heterocyclic thiazine compound used for industrial and medical purposes. Through environmental surveillance studies, PTZ was found being discharged into a local river in Connecticut. Phenothiazine has been shown to act similarly to endocrine disrupting chemicals. This study sought to identify sex specific hormone receptor changes in Fundulus heteroclitus in response to PTZ exposure. Fundulus heteroclitus, also known as mummichog, are small fish native to the Atlantic coast of the United States and Canada. They reside in brackish waters and can survive harsh toxic environments. This model organism is native to the polluted waters found in Connecticut. In this study, fish were exposed to PTZ concentrations of 0.5 ppm, 1.0 ppm, and 2.0 ppm for 1 week. Following exposure, brain, liver, and gonad tissues were harvested; cDNA was synthesized; and mRNA expression was assessed for 6 different hormone receptors. Compared with vehicle control (ethanol) differences in mRNA expression, levels of hormone receptors were observed in various tissues from male and female fish. Many of the tissues assessed showed changes in expression level, while only female liver and testis showed no change. These results implicate PTZ as a potential endocrine disrupting compound to mummichog at environmentally relevant concentrations.