A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis-trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens. Only nine affected individuals have been reported to date.MethodsWe report on a cohort of 17 individuals with FKBP14-kEDS and the follow-up of three previously reported patients, and provide an extensive overview of the disorder and its natural history based on clinical, biochemical, and molecular genetics data.ResultsBased on the frequency of the clinical features of 23 patients from the present and previous cohorts, we define major and minor features of FKBP14-kEDS. We show that myopathy is confirmed by histology and muscle imaging only in some patients, and that hearing impairment is predominantly sensorineural and may not be present in all individuals.ConclusionOur data further support the extensive clinical overlap with PLOD1-kEDS and show that vascular complications are rare manifestations of FKBP14-kEDS

New Capital Budgeting Theory: As a New Management Information System Tool

The purpose of this paper is to review the real options literature, which has provided a promising area of development in the capital budgeting process of the firm, and to emphasize that employing the new theory, as part of the information system, depends heavily on the implementation of computer information systems, as Decisions Support Systems (DSSs). The paper concentrates on two important real options: to wait and to abandon. It is shown that in absence of the real option values in the capital decision making models, the outcome of such models would be misleading and would lead to wrong decisions. The paper furnishes some avenues for further research in capital budgeting employing real option literature

Real options and capital budgeting An empirical study of UK firms

SIGLEAvailable from British Library Document Supply Centre-DSC:DXN018142 / BLDSC - British Library Document Supply CentreGBUnited Kingdo

Selective palladium-catalysed synthesis of diesters: alkoxycarbonylation of a CO2-butadiene derived delta-lactone

Novel unsaturated C-10 diesters are produced via the alkoxycarbonylation of delta-lactone 1 (3-ethylidene-6-vinyltetrahydro-2H-pyran-2-one), derived from the telomerization of CO2 and butadiene. The key for the selective valorization of 1 is the use of a catalytic system based on PdCl2, a chelating phosphine bearing electron-withdrawing groups and an acidic promoter. The unsaturated C-10 methyl diester can be easily hydrogenated on Pd/C under mild conditions to afford its corresponding saturated diester. Subsequent hydrogenation using the homogeneous [Ru(acac)(3)]/Triphos catalysts gives 2-ethyloctane-1,8-diol in high yield. The overall procedure allows synthesizing new building blocks for the manufacturing of renewable polymers and polymer processing materials

The real options and firm characteristics An empirical study of UK firms

SIGLEAvailable from British Library Document Supply Centre-DSC:9350.9492(99/09) / BLDSC - British Library Document Supply CentreGBUnited Kingdo

The use of real options among UK firms

SIGLEAvailable from British Library Document Supply Centre-DSC:9350.9492(99/08) / BLDSC - British Library Document Supply CentreGBUnited Kingdo