1,240 research outputs found
A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure.
No full textDonohue syndrome (DS) is a rare autosomal recessive condition caused by mutations in the gene encoding the insulin receptor. It is characterised by severe metabolic and endocrine derangement, prenatal and postnatal linear growth impairment, soft tissue overgrowth, and poor development of adipose tissue and muscle. Causes of death, which is often within the first year of life, include intercurrent infection and, in some cases, heart failure. Management is currently based on case reports and very small case series only, and no formal guidelines or recommendations exist. We describe a preterm infant who had typical features of DS but who later developed hypertrophic cardiomyopathy with heart failure leading to death at 10 weeks old. Molecular genetic analysis revealed compound heterozygosity for the previously reported p.Arg890X nonsense mutation and the novel p.Tyr818Cys missense mutation in the INSR gene. Tyrosine 818 falls in an exquisitely conserved residue of the alphabeta fibronectin domain of the insulin receptor, whose structure and function are much less well understood than other parts of the receptor. We discuss management options for DS, including the therapeutic dilemma around whether recombinant human insulin-like growth factor 1, one of the few available treatments for the syndrome, may exacerbate hypertrophic cardiomyopathy and cardiac failure
L’effet de l’intensité lumineuse et de la témperature sur la concentration de la chlorophylle dans quelques algues marines bentiques
No full text4 pages, figuresDans cette étude on observe qu'à Cadiz, l'influence de la lumière sur la concentration de la chlorophylle a des Gelidium change de signe dans la période de l'année proche des équinoxes. La nébulosité favorise l'augmentation de la concentration en chlorophylle pendant l'été et lui nuit en hiver. La vitese d'adaptation de la plante aux conditions externes de lumière semple en rapport avec la températur
Generalized TASE-RK methods for stiff problems
No full textA family of Time-Accurate and Stable Explicit (TASE) methods for the numerical integration of Initial Value Problems in stiff Ordinary Differential Equations (ODEs) y'(t) = f (t, y) was recently introduced in [1]. The main idea was to make local extrapolation of a stabilized Euler method. More recently, in [3] a similar approach by considering the stabilization of arbitrary explicit Runge-Kutta methods (TASE-RK) was analyzed. In this case the explicit Runge-Kutta method integrates a transformed ODE obtained by multiplying the vector field f (t, y) by a certain operator which approximates the identity mapping up to a given order p. The main inconvenience of both approaches is that to reach order p the solution of p2 linear systems plus the evaluation of p derivatives are required per integration step.In order to substantially reduce the computational costs of the former approaches in the linear system solution, but maintaining the good accuracy and stability properties, a new family of TASE-RK methods which allow to introduce a few more free parameters are considered. The formulation of the methods was conceived to be implemented not only in sequential mode but it admits parallelism in a straightforward way. Furthermore, since these methods are linearly implicit, connections to the class of W-methods [19] are properly established. The order conditions for the new class of methods are widely studied by using the rooted tree theory. For p = 3, 4, new methods with p sequential stages and order p are derived and compared on semidiscrete 1D and 2D Partial Differential Equations (PDEs) to those in [1,3] and other standard Rosenbrock and W-methods in the literature.(c) 2023 The Author(s). Published by Elsevier B.V. on behalf of IMACS. This is an open access article under the CC BY-NC-ND license (http:// creativecommons .org /licenses /by-nc -nd /4 .0/)
Cancer drug tackles overgrowth syndrome
No full textAbnormal activity of the enzyme PI3K can drive cancer growth, and mutations in a PI3K subunit can sometimes lead to non-cancerous overgrowth. A cancer drug that inhibits PI3K dramatically reduces such overgrowth
The morphological effects of sediment diversions the Lower Mississippi River
No full textThe wetlands in the Mississippi delta (USA) are drastically subsiding and eroding. Many projects and researches are ongoing to determine how this “drowning effect” of the delta can be stopped. One of the solutions that could be feasible is implementing sediment diversions in the levees of the Lower Mississippi River in order to divert sediment into the delta. This thesis addresses the morphological effects of river diversions on the Lower Mississippi River. The main objective is to analyze and optimize trade-offs between delta building and river navigability. For this purpose a 2DH numerical model with Delf3D has been created; the model simulates the hydro- and morphodynamic behavior. The river reach which has been studied is the final 110 km of the river from Point a la Hache at River Kilometer 78 (RK 78) down to the mouth of the river (RK -30), below Head of Passes. The hydrodynamic model has been calibrated and verified with flow and stage data from daily observations on the river. With the available sediment data a calibration has been carried out of the morphological behavior in the river. The model has been used to simulate several scenarios to get insight in the problems in the delta. From analysis of the model results the river bed in the study area can be divided into three categories. Upstream of RK 4 the bed is subject to erosion, around RK 4 the bed is practically in equilibrium and downstream of RK 4 the bed is subject to sedimentation. The reach downstream of RK 4 is the dredging reach; after analyzing the long-term simulation of 20 years it is not expected that the dredging quantities will decrease in the future. Closing off West Bay diversion has a positive effect on the dredging quantities. The best diversion site for this study area is found in the inner bend of the river upstream of Empire (RK 47) at RK 53. This site is most efficient and diverts the largest quantities of sand through the diversion.Hydraulic EngineeringCivil Engineering and Geoscience
The Dunston Manuscript
No full textVariously titled 80 Slides and a Memory, Fit for a King and others this is the definitive performed version as an invited reading in 2001 to the Urban Design Group. It describes in blank verse the early stages of the Gateshead Garden Festival illustrated with slide
Associating Gender with Neighbourhood Deprivation in Lagos State, Nigeria
No full textAJOL has removed this paper from the website after it was found to be published in another academic publication. AJOL has requestd that both journal editorial boards investigate this matter further with the author
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Transcriptions of Albanian Violin Music for Viola: History, Musical Style and Teaching Tools for the Intermediate to Advanced Player
No full textABSTRACTTranscriptions of Albanian Violin Music for Viola: History, Musical Style and Teaching Tools for the Intermediate to Advanced Player byBesnik YzeiriThe aim of the present study was fourfold: to add valuable new pieces to the viola repertoire; to do so specifically highlighting Albanian classical music; to develop a methodology for making transcriptions for that instrument; and to demonstrate the usefulness of such works specifically to guide intermediate and advanced viola performance students toward higher technical levels. The author accomplished these goals by carefully choosing appropriate pieces, exploring and comparing the transcribing methodologies of William Primrose, Watson Forbes, and Lionel Tertis, and synthesizing a framework for accomplishing the best transcription method for the task. The author then applied this framework specifically to Albanian composer Pjetër Gaci’s Concertino and Concerto for Violin and Piano, transcribing them for viola and piano, and finally using these transcriptions as case studies as teaching tools for intermediate to advanced viola students
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