Cheirodonta verbernei (Moolenbeek et Faber, 1989)

Catálogo do Museo de Historia Natural USC. n. inventario 10049

Right ventricular pressure overload: hemodynamic and proteomic changes

The incidence of congenital heart disease (CHD) is estimated to vary between 4 to 50 per 1000 live births [1, 2] . This wide range of incidence is due to different phenotypes of CHD, as well as the inclusion criteria used. All together, CHD can be seen as the most common birth defect worldwide with approximately 1 million children born with a CHD each year [3]. Epidemiological studies in the Netherlands report an incidence of 6 per 1000 children born with a CHD each year [4]. When looking at causes of infant death, congenital anomalies are the leading cause. One third of these deaths are due to CHD [5]. However, the introduction of modern surgery as well as improved treatment strategies for CHD resulted in a decline in mortality from CHD [6]. In addition, death resulting form CHD shifted from newborns to young adults [7]. Thus, this prolonged survival results in an increase in patients with CHD that need treatment not only at birth, but also during adolescence and even during their adult live. In a selected group of these patients, the structural abnormalities that define a particular CHD phenotype results in prolonged RV pressure overload, such as Tetralogy of Fallot, left hypoplastic heart syndrome or congenitally corrected transposition of the great vessels. In addition, other diseases such as pulmonary hypertension or even ischemic heart disease can result in increased RV loading conditions. The effects of prolonged RV pressure overload on the heart’s function, as well as the effects on molecular and cellular level is not yet fully understood. However, patient data suggest that the RV is unable to cope with prolonged periods of (systemic) overload resulting in RV failure [8-12]. Therefore, it is of utmost importance to understand the effects of prolonged pressure overload on the RV in terms of ventricular function, as well as at the molecular level

Effect of Triangularity on Ion-Temperature-Gradient-Driven Turbulence

The linear and nonlinear properties of ion-temperature-gradient-driven (ITG) turbulence with adiabatic electrons are modeled for axisymmetric configurations for a broad range of triangularities δ, both negative and positive. Peak linear growth rates decrease with negative δ but increase and shift toward a finite radial wavenumber kx with positive δ. The growth-rate spectrum broadens as a function of kx with negative δ and significantly narrows with positive δ. The effect of triangularity on linear instability properties can be explained through its impact on magnetic polarization and curvature. Nonlinear heat flux is weakly dependent on triangularity for |δ| ≤ 0.5, decreasing significantly with extreme δ, regardless of sign. Zonal modes play an important role in nonlinear saturation in the configurations studied, and artificially suppressing zonal modes increased nonlinear heat flux by a factor of about four for negative δ, increasing with positive δ by almost a factor of 20. Proxies for zonal-flow damping and drive suggest that zonal flows are enhanced with increasing positive δ.</p

Personal health communities: A phenomenological study of a new health-care concept

Context: Fragmentation of care, complexity of diseases and the need to involve patients actively in their individual health care led to the development of the personal health community (PHC). In a PHC, patients can -regardless of the nature of their condition- invite all professionals that are involved in their health care process. Once gathered, the patient and health care team can exchange information about the patient's health and communicate through several functionalities, in a secured environment. Objectives: Exploring the use, first experiences and potential consequences of using PHCs in health care. Design: Qualitative phenomenological study. Participants: Eighteen respondents, consisting of women experiencing infertility (n = 5), persons with Parkinson's disease (n = 6), a gynaecologist, a fertility doctor, a fertility nurse, three Parkinson's specialist nurses and a neurologist. Results: First experiences with PHCs showed that patients use their PHC differently, dependending on their condition and people involved. Various (potential) advantages for future health care were mentioned relating to both organizational aspects of care (e.g. continuity of care) and the human side of care (e.g. personal care). Patient involvement in care was facilitated. Disadvantages were the amount of work that it took and technological issues. Conclusions: Using PHCs leads to promising improvements in both the organization of care and care experience, according to the participants in this study. They indicate that patients with different diseases and in different circumstances can benefit from these improvements. The PHC seem to be an online tool that can be applied in a personalized way. When (technically) well facilitated, it could stimulate active involvement of patients in their own health and health care. It warrants further research to study its effect on concrete health outcomes

Intellectual and motor development of young adults with congenital hypothyroidism diagnosed by neonatal screening

Contains fulltext : 35756.pdf (publisher's version ) (Open Access)CONTEXT: Long-term follow-up data on cognitive and motor functioning in adult patients with congenital hypothyroidism, diagnosed by neonatal screening, are scarce. Hence, it is still unclear whether the frequently reported cognitive and motor deficits observed during childhood persist in adulthood. OBJECTIVE: The objective of this study was to examine cognitive and motor functioning in young adults with congenital hypothyroidism, born in the first 2 yr after the introduction of the Dutch neonatal screening program. DESIGN/SETTING/PATIENTS: Seventy patients were tested (mean age, 21.5 yr); 49 of them were previously tested at 9.5 yr. The median age at the start of treatment was 28 d (range, 4-293 d). Congenital hypothyroidism was classified as severe, moderate, or mild, according to pretreatment T(4) concentrations. MAIN OUTCOME MEASUREMENT: The main outcome measurement was the influence of the severity of congenital hypothyroidism and age at which T(4) supplementation was started on cognitive and motor outcome. RESULTS: Patients, particularly those with severe congenital hypothyroidism, had significantly higher (i.e. worse) motor scores (total score, 7.8; ball skills, 2.0; balance, 4.1) compared with controls (total score, 3.2; ball skills, 0.7; balance, 1.1), and lower full-scale (95.8), verbal (96.4), and performance (95.6) intelligence quotient (IQ) scores than the normal population. No significant change in IQ from childhood to adulthood was found, and for the majority of patients, motor score classification remained the same. The severity of congenital hypothyroidism, but not the starting day of treatment, was correlated with IQ and motor scores. CONCLUSIONS: It is concluded that the severity of congenital hypothyroidism, but not the timing of treatment initiation, is an important factor determining long-term cognitive and motor outcome. Clearly, detrimental effects on developmental outcome in patients with congenital hypothyroidism persist over time

The local Gromov-Witten theory of CP^1 and integrable hierarchies

In this paper we begin the study of the relationship between the local Gromov-Witten theory of Calabi-Yau rank two bundles over the projective line and the theory of integrable hierarchies. We first of all construct explicitly, in a large number of cases, the Hamiltonian dispersionless hierarchies that govern the full descendent genus zero theory. Our main tool is the application of Dubrovin's formalism, based on associativity equations, to the known results on the genus zero theory from local mirror symmetry and localization. The hierarchies we find are apparently new, with the exception of the resolved conifold O(-1) + O(-1) -> P1 in the equivariantly Calabi-Yau case. For this example the relevant dispersionless system turns out to be related to the long-wave limit of the Ablowitz-Ladik lattice. This identification provides us with a complete procedure to reconstruct the dispersive hierarchy which should conjecturally be related to the higher genus theory of the resolved conifold. We give a complete proof of this conjecture for genus g<=1; our methods are based on establishing, analogously to the case of KdV, a "quasi-triviality" property for the Ablowitz-Ladik hierarchy at the leading order of the dispersive expansion. We furthermore provide compelling evidence in favour of the resolved conifold/Ablowitz-Ladik correspondence at higher genus by testing it successfully in the primary sector for g=2.Comment: 30 pages; v2: an issue involving constant maps contributions is pointed out in Sec. 3.3-3.4 and is now taken into account in the proofs of Thm 1.3-1.4, whose statements are unchanged. Several typos, formulae, notational inconsistencies have been fixed. v3: typos fixed, minor textual changes, version to appear on Comm. Math. Phy

LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS

PURPOSE: To study the disease course of RPE65-associated inherited retinal degenerations (IRDs) as a function of the genotype, define a critical age for blindness, and identify potential modifiers. METHODS: Forty-five patients with IRD from 33 families with biallelic RPE65 mutations, 28 stemming from a genetic isolate. We collected retrospective data from medical charts. Coexisting variants in 108 IRD-associated genes were identified with Molecular Inversion Probe analysis. RESULTS: Most patients were diagnosed within the first years of life. Daytime visual function ranged from near-normal to blindness in the first four decades and met WHO criteria for blindness for visual acuity and visual field in the fifth decade. p.(Thr368His) was the most common variant (54%). Intrafamilial variability and interfamilial variability in disease severity and progression were observed. Molecular Inversion Probe analysis confirmed all RPE65 variants and identified one additional variant in LRAT and one in EYS in two separate patients. CONCLUSION: All patients with RPE65-associated IRDs developed symptoms within the first year of life. Visual function in childhood and adolescence varied but deteriorated inevitably toward blindness after age 40. In this study, genotype was not predictive of clinical course. The variance in severity of disease could not be explained by double hits in other IRD genes

Relativistic Hydrodynamic Evolutions with Black Hole Excision

We present a numerical code designed to study astrophysical phenomena involving dynamical spacetimes containing black holes in the presence of relativistic hydrodynamic matter. We present evolutions of the collapse of a fluid star from the onset of collapse to the settling of the resulting black hole to a final stationary state. In order to evolve stably after the black hole forms, we excise a region inside the hole before a singularity is encountered. This excision region is introduced after the appearance of an apparent horizon, but while a significant amount of matter remains outside the hole. We test our code by evolving accurately a vacuum Schwarzschild black hole, a relativistic Bondi accretion flow onto a black hole, Oppenheimer-Snyder dust collapse, and the collapse of nonrotating and rotating stars. These systems are tracked reliably for hundreds of M following excision, where M is the mass of the black hole. We perform these tests both in axisymmetry and in full 3+1 dimensions. We then apply our code to study the effect of the stellar spin parameter J/M^2 on the final outcome of gravitational collapse of rapidly rotating n = 1 polytropes. We find that a black hole forms only if J/M^2<1, in agreement with previous simulations. When J/M^2>1, the collapsing star forms a torus which fragments into nonaxisymmetric clumps, capable of generating appreciable ``splash'' gravitational radiation.Comment: 17 pages, 14 figures, submitted to PR

Topological String Amplitudes, Complete Intersection Calabi-Yau Spaces and Threshold Corrections

We present the most complete list of mirror pairs of Calabi-Yau complete intersections in toric ambient varieties and develop the methods to solve the topological string and to calculate higher genus amplitudes on these compact Calabi-Yau spaces. These symplectic invariants are used to remove redundancies in examples. The construction of the B-model propagators leads to compatibility conditions, which constrain multi-parameter mirror maps. For K3 fibered Calabi-Yau spaces without reducible fibers we find closed formulas for all genus contributions in the fiber direction from the geometry of the fibration. If the heterotic dual to this geometry is known, the higher genus invariants can be identified with the degeneracies of BPS states contributing to gravitational threshold corrections and all genus checks on string duality in the perturbative regime are accomplished. We find, however, that the BPS degeneracies do not uniquely fix the non-perturbative completion of the heterotic string. For these geometries we can write the topological partition function in terms of the Donaldson-Thomas invariants and we perform a non-trivial check of S-duality in topological strings. We further investigate transitions via collapsing D5 del Pezzo surfaces and the occurrence of free Z2 quotients that lead to a new class of heterotic duals.Comment: 117 pages, 1 Postscript figur