Novel growth hormone receptor gene mutation in a patient with Laron syndrome

PubMedID: 20583548Growth Hormone (GH) is a 22 kDa protein that has effects on growth and glucose and fat metabolisms. These effects are initiated by binding of growth hormone (GH) to growth hormone receptors (GHR) expressed in target cells. Mutations or deletions in the growth hormone receptor cause an autosomal disorder called Laron-type dwarfism (LS) characterized by high circulating levels of serum GH and low levels of insulin like growth factor-1 (IGF-1). We analyzed the GHR gene for genetic defect in seven patients identified as Laron type dwarfism. We identified two missense mutations (S40L and W104R), and four polymorphisms (S473S, L526I, G168G and exon 3 deletion). We are reporting a mutation (W104R) at exon 5 of GHR gene that is not previously reported, and it is a novel mutation. © Freund Publishing House Ltd.This project was supported by a grant from Marmara University Research Fund

Hierarchical modeling of perceived collision risks in port fairways

Navigational collisions are one of the major safety concerns in many seaports. Despite the extent of recent works done on port navigational safety research, little is known about harbor pilot’s perception of collision risks in port fairways. This paper uses a hierarchical ordered probit model to investigate associations between perceived risks and the geometric and traffic characteristics of fairways and the pilot attributes. Perceived risk data, collected through a risk perception survey conducted among the Singapore port pilots, are used to calibrate the model. Intra-class correlation coefficient justifies use of the hierarchical model in comparison with an ordinary model. Results show higher perceived risks in fairways attached to anchorages, and in those featuring sharper bends and higher traffic operating speeds. Lesser risks are perceived in fairways attached to shoreline and confined waters, and in those with one-way traffic, traffic separation scheme, cardinal marks and isolated danger marks. Risk is also found to be perceived higher in night

Multi-objective Hydrodynamic Optimization of the DTMB 5415 for Resistance and Seakeeping

International audienceThe paper presents recent research conducted within the NATO RTO Task Group AVT-204 "Assess the Ability to Optimize Hull Forms of Sea Vehicles for Best Performance in a Sea Environment." The objective is the improvement of the hydrodynamic performances (resistance/powering requirements, seakeeping, etc.) of naval vessels, by integration of computational methods used to generate, evaluate, and optimize hull-form variants. Several optimization approaches are brought together and compared. A multi-objective optimization of the DTMB 5415 (specifically the MARIN variant 5415M) is used as a test case and results obtained so far using low-fidelity solvers show an average improvement for resistance and seakeeping performances of nearly 10 and 9%, respectively