Citations

Abstract Previously in our lab, a missense mutation in the MASTL (FLJ14813) gene on human chromosome 10 was linked to an autosomal dominantly inherited thrombocytopenia in a single pedigree. The mutation results in an amino acid change from glutamic acid at position 167 to aspartic acid and correlates with the inheritance of the disorder in all the affected individuals. The patients present with mild thrombocytopenia with an average platelet count of 60,000 platelets per microliter of blood. Northern blot analysis indicates that MASTL mRNA is restricted in its expression to hematopoietic and cancer cell lines. Functional studies presented here demonstrate a direct relationship between the transient knockdown of the Microtubule Associated Serine/Threonine Like (MASTL) kinase expression and the reduction of circulating thrombocytes in zebrafish (Danio rerio) while erythrocytes development normally. This transient knockdown of MASTL in zebrafish correlates with a decrease in the expression of the thrombopoietin receptor, c-mpl, and the CD41 platelet adhesion GpIIb protein but has no effect on essential housekeeping zebrafish gene, EF1α. The transient expression of a fluorescent protein fused to MASTL and E167D MASTL kinase demonstrates that MASTL localizes to the nucleus of cells as determined by confocal microscopy and TO-PRO-3 counterstain.

Purpose: To report visual and anatomical outcomes after the repair of chronic idiopathic macular holes (MHs) with no face-down positioning. Methods: We conducted a retrospective review of chronic MH cases of greater than 1-year duration that were repaired through pars plana vitrectomy with broad internal limiting membrane peeling and no face-down positioning between March 2009 and December 2017. There were 18 eyes of 18 patients that met inclusion criteria. Patients with MH duration of less than 1 year and without at least 1 month of follow-up were excluded. Macular hole staging and measurements were performed with spectral domain optical coherence tomography. Results: Mean MH duration was 5.0 ± 6.9 years. Two-thirds of MHs had a basal diameter of more than 1,000 μm. Mean preoperative Snellen visual acuity was 20/302 and improved to a mean postoperative visual acuity of 20/112 (P ≤ 0.0001). Visual acuity improved in all patients who achieved successful anatomical closure, 94.4% (17/18) of eyes. Conclusion and relevance: Patients in this series with chronic MH who underwent no-face-down MH repair demonstrated a high single-surgery anatomical closure rate with a significant improvement in visual acuity.