Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal (CLOVES) syndrome, macrodactyly, and the megalencephaly syndrome, Megalencephaly-Capillary malformation (MCAP) syndrome. We set out to refine the understanding of the clinical spectrum and natural history of these phenotypes, and now describe 35 patients with segmental overgrowth and somatic PIK3CA mutations. The phenotypic data show that these previously described disease entities have considerable overlap, and represent a spectrum. While this spectrum overlaps with Proteus syndrome (sporadic, mosaic, and progressive) it can be distinguished by the absence of cerebriform connective tissue nevi and a distinct natural history. Vascular malformations were found in 15/35 (43%) and epidermal nevi in 4/35 (11%) patients, lower than in Proteus syndrome. Unlike Proteus syndrome, 31/35 (89%) patients with PIK3CA mutations had congenital overgrowth, and in 35/35 patients this was asymmetric and disproportionate. Overgrowth was mild with little postnatal progression in most, while in others it was severe and progressive requiring multiple surgeries. Novel findings include: adipose dysregulation present in all patients, unilateral overgrowth that is predominantly left-sided, overgrowth that affects the lower extremities more than the upper extremities and progresses in a distal to proximal pattern, and in the most severely affected patients is associated with marked paucity of adipose tissue in unaffected areas. While the current data are consistent with some genotype-phenotype correlation, this cannot yet be confirmed

Direct Ceramic Inkjet Printing and Infiltration of Functional Coatings for Metal Supported SOFC

Direct Ceramic Inkjet Printing (DCIJP) was applied for fabrication of functional coatings in metal-supported SOFCs. An optimization procedure of the ink formulations and the printing parameters was performed allowing routine production of coatings with thicknesses below 20 µm with an additional benefit of surface defects planarization. Commercial low-cost stainless steel 430L powders were chosen as source materials. The supports sintering procedures was performed in vacuum. The density and open porosity distribution of as-sintered supports were determined by Archimedes' method and optical image analysis. The relation between the sintering conditions and the micro-structural characteristics of the metal supports and the coatings were studied. The influence of the printing parameters on the droplets spreading behaviour was explored. The microstructure and elemental distribution were investigated by Scanning Electron Microscope and energy dispersive X-ray spectrometry system. The analyses confirmed that DCIJP can be successfully applied for the production and modification of metal supported SOFCs.</jats:p

Development of Intermediate Temperature (550 - 650oC) Metal Supported Solid Oxide Fuel Cells (SOFCs) Using Plasma Processes

An entire cycle for fabricating a metal supported cell is developed, using porous SS430L as anode substrate, NiO-GDC as the anode, GDC as electrolyte and LSCF as cathode, as follows - - Tape Casting of porous SS430L substrate layers, followed by vacuum sintering (1100 C)- Brush painting of anode (NiO + GDC) layers, followed by a high heat flux treatment to induce rapid sintering - Plasma Spray (powder) deposition of GDC electrolyte layer leading to sintering- Ink-Jet printing of GDC colloidal suspension to give better finish to the ‘rough’ electrolyte surface, followed by high heat flux treatment- Brush painting of cathode (LSCF) layers on the electrolyte surface followed by high heat flux treatment The cells are characterized for their microstructure and have shown highly dense electrolytes, and fine microstructures for anodes and cathodes. Process refinements are underway (with electrochemical characterization) to enhance cell performance and stack assembly.</jats:p