Prevalence of inhibitors in hemophilia patients and quantitative estimation of FVIII Inhibitors in hemophilia patients of Odisha

Objective:To know prevalence of factor VIII and IX inhibitors in Haemophilia patients and Quantitative estimation of factor VIII inhibitors in Haemophilia A patients using Bethesda Assay. Study Population: Hemophilia Patients receiving blood products and recombinant factor transfusion. Results: Total 54 cases were screened for factor deficiency and inhibitors. 42 old cases were screened and 12 new cases of Hemophilia A were screened for development of inhibitors.The mean age of patients in the study population was 14.38+8.12 years with age ranging from 9 months to 68 years. Prevalence of Hemophilia A was 92.6%, prevalence of Hemophilia B was 5.5%. There were 46% severe hemophilia A cases and 44% moderate hemophilia A cases and 10% mild hemophilia A cases. 40.74% cases had development of target joints with knee joint which was most commonly effected. Prevalence of inhibitors in Hemophilia A was 8%.It was 13% in severe hemophilia cases. 25% i.e. 1 patient was high responder with inhibitor level of 64 BU, other 3 inhibitor positive patients were low responders with inhibitor levels of 3BU, 3.2 BU and 4.4 BU. Conclusion: Severe hemophilia patients need frequent factor transfusions and are at higher risk of inhibitor development. Patients with low inhibitor levels i.e.<10BU need high dose of recombinant factor VIII. Patients with high inhibitor levels >10 BU may require Recombinant factor VII with or without immune tolerance therapy. So inhibitor screening and Bethesda assay is needed at least once in every six months for prompt treatment

Phenotypic similarities within the morphologic spectrum of DICER1-associated sarcomas and pleuropulmonary blastoma: Histopathologic features guide diagnosis in the LMIC setting.

Extrapulmonary DICER1-associated sarcomas (DS) can harbor morphological features overlapping with pleuropulmonary blastoma. We report 3 children with intracranial and genital tract sarcomas, suspected to have DS based on a heterogeneous yet defining combination of spindle-cell sarcomatous and blastemal morphology, with rhabdomyomatous differentiation. Foci of immature cartilage at diagnosis (n=2/3) and increased neuroepithelial differentiation at recurrence (n=1) were noted. Morphological suspicion prompted somatic testing at reference centers, confirming likely biallelic, loss-of-function and ‘hotspot’ missense DICER1 variants in all 3 tumors. This can serve as a model for this diagnosis in resource-limited settings and has implications for germline testing, surveillance, and tumor management