Hay Skaarup (cheesemaria8)

m the perspective of the French healthcare payer.RUNX1 associated familial platelet disorder (FPD) is a rare autosomal dominant hematologic disorder characterized by thrombocytopenia and/or altered platelet function. There is an increased propensity to develop myeloid malignancy (MM) - acute myeloid leukemia, myeloproliferative neoplasms or myelodysplastic syndrome often in association with secondary somatic variants in other genes. To date, 23 FPD-MM pediatric cases have been reported worldwide. Here, we present two new kindreds with novel RUNX1 pathogenic variants in which children are probands. The first family is a daughter/mother diad, sharing a heterozygous frameshift variant in RUNX1 gene (c.501delT p.Ser167Argfs*9). The daughter, age 13 years, presented with features resembling juvenile myelomonocytic leukemia - severe anemia, thrombocytopenia, high white cell count with blast cells, monocytosis, increased nucleated red cells and had somatic mutations with high allele burden in CUX1, PHF6, and SH2B3 genes. She also had increased fetal hemoglobin and increased LIN28B expression. The mother, who had a long history of hypoplastic anemia, had different somatic mutations- a non-coding mutation in CUX1 but none in PHF6 or SH2B3. Her fetal hemoglobin and LIN28B expression were normal. In the second kindred, the proband, now 4 years old with thrombocytopenia alone, was investigated at 3 months of age for persistent neonatal thrombocytopenia with large platelets. Molecular testing identified a heterozygous intragenic deletion in RUNX1 encompassing exon 5. His father is known to have increased bruising for several years but is unavailable for testing. These two cases illustrate the significance of secondary mutations in the development and progression of RUNX1-FPD to MM. To evaluate the efficacy of B cell depletion therapy with the chimeric mouse/human anti-CD20 monoclonal antibody rituximab for refractory chronic recurrent granulomatous uveitis associated with Vogt-Koyanagi-Harada (VKH) disease. Retrospective study of 9 patients (18 eyes) who failed to respond to conventional combination immunosuppressive therapy. All the patients received 3 rituximab infusions. The follow-up period after initiation of rituximab therapy ranged from 9 to 36months (mean ±SD, 19.2±10.1). All patients achieved remission and visual acuity significantly improved ( <.001). Rituximab provided corticosteroid-sparing effect along with control of inflammation. No rituximab-related complications were observed. Rituximab is effective for the treatment of refractory chronic recurrent granulomatous uveitis associated with VKH disease. Rituximab is effective for the treatment of refractory chronic recurrent granulomatous uveitis associated with VKH disease. To review the available evidence supporting the validity of algorithms to identify asthma patients in healthcare administrative databases. A systematic literature search was conducted on multiple databases from inception to March 2020 to identify studies that reported the validity of case-finding asthma algorithms applied to healthcare administrative data. Following an initial screening of abstracts, two investigators independently assessed the full text of studies which met the pre-determined eligibility criteria. Data on study population and algorithm characteristics were extracted. A revised version of the Quality Assessment of Diagnostic Accuracy Studies tool was used to evaluate the risk of bias and generalizability of studies. A total of 20 studies met the eligibility criteria. Algorithms which incorporated ≥1 diagnostic code for asthma over a 1-year period appeared to be valid in both adult and pediatric populations (sensitivity ≥ 85%; specificity ≥ 89%; PPV ≥ 70%). The validity was enhanced when. We assessed the knowledge of, attitude toward antimicrobial resistance (AMR) and practice of antimicrobial stewa