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This report describes the first Turkish family to be diagnosed with Bernard-Soulier syndrome. The family consists of nine members (two parents, three sons and four daughters). The parents were first cousins. The index case, a 22 year-old-man, had a history of haemorrhagic diathesis with thrombocytopenia, giant platelets in the peripheral blood smear and a prolonged bleeding time. Refractory idiopathic thrombocytopenic purpura had been diagnosed elsewhere and a splenectomy had been performed six months previously. Ristocetin agglutination of platelets was defective and flow cytometry analysis of platelet membrane glycoprotein showed markedly reduced expression of glycoprotein lb (2.1%). Bernard-Soulier syndrome was diagnosed. Increased mean platelet volume was found in both parents, one son and three daughters. The other son and daughter were normal.

In turbomachines, a tip gap is required in order to allow the relative motion of the blade and to prevent the blade tip surface from rubbing. This gap which lay out between the blade tip surface and the casing, results in fluid leakage due to the pressure difference between the pressure side and the suction side of the blade. The tip leakage flow causes almost one third of the aerodynamic loss and unsteady thermal loads over the blade tip. Previous experimental and numerical studies revealed that the squealer blade tip arrangements are one of the effective solutions in increasing the aerothermal performance of the axial flow turbines. In this paper the tip leakage flow is examined and optimized with the squealer geometry as a means to control those losses related with the tip clearance. The squealer height and width have been selected as design parameters and the corresponding computational domain was obtained parametrically. Numerical experiments with such parametrically generated multizone structured grid topologies paved the way for the aerothermal optimization of the high pressure turbine blade tip region. Flow within the linear cascade model has been numerically simulated by solving Reynolds Averaged Navier-Stokes (RANS) equations in order to produce a database. For the numerical validation a well-known test case, Durham cascade is investigated in end wall profiling studies has been used. Sixteen different squealer tip geometries have been modeled parametrically and their performance have been compared in terms of both aerodynamic loss and convective heat transfer coefficient at blade tip. Also, these two values have been introduced as objective functions in the optimization studies. A state of the art multi-objective optimization algorithm, NSGA-II, coupled with an Artificial Neural Network is used to obtain the optimized squealer blade tip geometries for reduced aerodynamic loss and minimum heat transfer coefficient. Optimization results are verified using CFD.