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Case: A 29-year-old man with hemophilia B presented with advanced arthropathy of the right knee, resulting in poor knee functional scores and difficulties in his livelihood. The patient underwent total knee replacement while receiving nonacog beta pegol factor IX by a multidisciplinary approach. Conclusion: Hemophilias commonly result in end-stage hemophilic arthropathy of the joints at a young age that may warrant joint replacement surgeries. This case report illustrates the surgical protocol of total knee arthroplasty in a patient who received a long-acting factor IX preparation. [ABSTRACT FROM AUTHOR]

Hemophilic pseudotumor is a rare, yet dangerous complication of hemophilia. It has been reported previously at sites prone to recurrent trauma like long bones and pelvis. However, in the field of otorhinolaryngology, few cases are reported and therefore there is no established protocol for management. We hereby report a case of a 2-year-old boy, a known case of hemophilia A (factor VIII deficiency), who presented with recurrent epistaxis not responding to medical management. Imaging was done and revealed a heterogenous nasal mass compressing the left orbital wall, extending to the sphenoid sinus, and causing skull base erosion. The patient was successfully managed by evacuation and drainage of the pseudotumor via endoscopic endonasal approach and replacement of factor VII pre-and post-operatively. To our knowledge, this is the first case of nasal hemophilic pseudotumor managed by evacuation and drainage through an endoscopic endonasal approach, which was deemed successful. [ABSTRACT FROM AUTHOR]

DNA diagnosis of hemophilias has received much attention in recent years, and different methods are presently available to analyze the coagulation factor IX and VIII genes. This review is intended to serve as a brief guide to current and emerging diagnostic strategies. [ABSTRACT FROM AUTHOR]

The activated partial thromboplastin time (APTT) is a commonly performed laboratory procedure which is used for multiple purposes including monitoring of heparin therapy, detection of coagulation factor deficiency, and detection of lupus anticoagulants. Among the hereditary coagulation deficiencies, factor VIII and factor IX are the most common. APTT reagents differ widely in both their sensitivity to factor VIII and factor IX deficiencies as well as their responsiveness. Sensitivity may be defined as the ability to identify a deficiency state while responsiveness is indicated by the degree of prolongation of the APTT result as compared to the upper limit of normal. Reagents may be both sensitive and responsive or alternatively sensitive and relatively nonresponsive. Consequently, it is extremely important for each laboratory to carefully identify the upper limit of the normal range. A variety of preanalytical variables will also effect the sensitivity of the APTT to factor deficiency states. These variables include specimen handling and the preparation of platelet poor plasma. The instrument effect is also of importance. Selection of the reagent tends to have the most impact on senstivity and responsiveness while instrumentation affects the precision of a given APTT. The composition and concentration of phospholipid in APTT reagents does have an effect on reagent responsiveness and sensitivity. Sensitivity to factor deficiencies does not necessarily parallel sensitivity to lupus anticoagulants. [ABSTRACT FROM AUTHOR]

Background Hepatic fibrosis in individuals with HCV/HIV coinfection or HCV mono-infection may be modulated by a variety of host factors. In this study, we investigated the role of gene polymorphisms of putative genes that might influence fibrosis progression including MICA (rs2596542), interferon-stimulated gene OAS2 (rs1293762) and the pathogen recognition receptors TLR7 (rs179009) and TLR9 (rs187084). Effect on a cytokine panel was evaluated. Methods Longitudinal samples were obtained from subjects enrolled in the NCI Multicenter Hemophilia Cohort Study. Within the cohort, a subset of subjects were included based upon presence or absence of the CCR5 delta-32 mutation which was previously shown to influence the rate of fibrosis progression. Hepatic fibrosis change was determined using the serum-derived Enhanced Liver Fibrosis (ELF) Index. Four putative genes with polymorphisms that have been previously associated with the development or progression of hepatic fibrosis were evaluated using Taqman SNP genotyping assays. Cytokine assays were performed using Luminex chipsets. Samples were analyzed using Statistix 10.0 using ANOVA and least square regression models. Results 58 unique subjects were evaluated. The mean age was 38 years, and all were male. 74% were HIV infected and 97% were HCV infected (76.8% coinfection). Controlling for the effect of CCR5, only the TLR7 A -> G polymorphism was predictive of change in the ELF Index. There was no statistically significant predictive difference between genotypes in the other three polymorphisms. Subjects with the TLR7 A allele (n = 47) had an average increase in ELF of 0.79 units, while the G allele (n = 11) had an increase in ELF of 2.1 units (P = 0.008). A regression model identified TLR7 as a key factor in ELF change, as well as HCV/HIV coinfection. Interferon alfa-2 levels were highly associated (increased, P = 0.0007) with the TLR7 A -> G polymorphism, while RANTES levels were inversely associated (decreased, P = 0.0443) with it. Conclusion Of the gene polymorphisms investigated, only TLR7 (rs179009) is an independent predictor of development of hepatic fibrosis in HCV/HIV coinfected subjects. The mechanism may involve modulation of inflammatory response pathways. Disclosures All authors: No reported disclosures. [ABSTRACT FROM AUTHOR]