The genetic basis of disease

Genetics plays a role, to a greater or lesser extent, in all diseases. Variations in our DNA and differences in how that DNA functions (alone or in combinations), alongside the environment (which encompasses lifestyle), contribute to disease processes. This review explores the genetic basis of human disease, including single gene disorders, chromosomal imbalances, epigenetics, cancer and complex disorders, and considers how our understanding and technological advances can be applied to provision of appropriate diagnosis, management and therapy for patients

Effects of lianas and Hurricane Wilma on tree damage in the Yucatan Peninsula, Mexico

Climate change may increase the intensity of hurricanes (Emanuel 1987, 2003), and thus the size of disturbance in tropical forests. As a consequence, disturbance-specialist plants, such as lianas, may increase in abundance there (Phillips & Gentry 1994). Putz (1984) hypothesized that lianas create larger treefall gaps by connecting trees together and pulling down multiple trees during storms. This positive-feedback cycle may increase the prevalence of lianas in disturbed tropical forests (Schnitzer & Bongers 2002, Schnitzer & Carson 2001). Alternatively, Putz (1984) proposed that lianas tie and stabilize canopies together, resulting in less disturbance. Forest age may determine the role of lianas during disturbance because liana abundance and composition vary through secondary succession (De Walt et al. 2000, Schnitzer et al. 2000). To test the two hypotheses of Putz (1984), we evaluated the effect of liana cutting between forests of different successional ages on tree damage by hurricane Wilma

Elektronenmikroskopische Befunde bei einer Affenseuche (Cercopithecus aethiops)

Die elektronenmikroskopischen Befunde von G. Müller und D. Peters, die den Erreger einer Affenseuche (Cercopithecua aethiops) als gebogene Stäbe dargestellt haben, werden bestätigt und erweitert. Es gelang, die ätiologische Bedeutung dieser Formen durch die Kombination von Gewebekultur (menschliche Amnionzellen), Tierversuch (Meerschweinchen) und elektronenmikroskopischem Befund in dieser Reihenfolge zu sichern.Electron microscopial data given by G. Müller and D. Peters, describing the agent of a communicable disease of monkeys (Cercopithecus aethiopa) as curved rods, are confirmed and supplemented in morphology. Furthermore, we succeeded in strengthening the etiological significance of this agent by combining its multiplication in human amnion cells, infection of guinea pigs with the 5th passage of the tissue culture and electron microscopy of this agent in all these steps

TAN Classifiers Based on Decomposable Distributions

The original publication is available at www.springerlink.comIn this paper we present several Bayesian algorithms for learning Tree Augmented Naive Bayes (TAN) models. We extend the results in Meila & Jaakkola (2000a) to TANs by proving that accepting a prior decomposable distribution over TAN's, we can compute the exact Bayesian model averaging over TAN structures and parameters in polynomial time. Furthermore, we prove that the k-maximum a posteriori (MAP) TAN structures can also be computed in polynomial time. We use these results to correct minor errors in Meila & Jaakkola (2000a) and to construct several TAN based classifiers provide consistently better predictions over Irvine datasets and artificially generated data than TAN based classifiers proposed in the literature.Peer reviewe

Dynamical Evolution of Elliptical Galaxies with Central Singularities

We study the effect of a massive central singularity on the structure of a triaxial galaxy using N-body simulations. Starting from a single initial model, we grow black holes with various final masses Mh and at various rates, ranging from impulsive to adiabatic. In all cases, the galaxy achieves a final shape that is nearly spherical at the center and close to axisymmetric throughout. However, the rate of change of the galaxy's shape depends strongly on the ratio Mh/Mg of black hole mass to galaxy mass. When Mh/Mg < 0.3%, the galaxy evolves in shape on a timescale that exceeds 100 orbital periods, or roughly a galaxy lifetime. When Mh/Mg > 2%, the galaxy becomes axisymmetric in little more than a crossing time. We propose that the rapid evolution toward axisymmetric shapes that occurs when Mh/Mg > 2% provides a negative feedback mechanism which limits the mass of central black holes by cutting off their supply of fuel.Comment: 27 Latex pages, 9 Postscript figures, uses aastex.sty. Accepted for Publication in The Astrophysical Journal, Nov. 26, 199

An efficient method to calculate excitation energy transfer in light harvesting systems. Application to the FMO complex

A master equation, derived from the non-Markovian quantum state diffusion (NMQSD), is used to calculate excitation energy transfer in the photosynthetic Fenna-Matthews-Olson (FMO) pigment-protein complex at various temperatures. This approach allows us to treat spectral densities that contain explicitly the coupling to internal vibrational modes of the chromophores. Moreover, the method is very efficient, with the result that the transfer dynamics can be calculated within about one minute on a standard PC, making systematic investigations w.r.t. parameter variations tractable. After demonstrating that our approach is able to reproduce the results of the numerically exact hierarchical equations of motion (HEOM) approach, we show how the inclusion of vibrational modes influences the transfer

The muscarinic receptor antagonist propiverine exhibits α1-adrenoceptor antagonism in human prostate and porcine trigonum

Combination therapy of male lower urinary tract symptoms with α(1)-adrenoceptor and muscarinic receptor antagonists attracts increasing interest. Propiverine is a muscarinic receptor antagonist possessing additional properties, i.e., block of L-type Ca(2+) channels. Here, we have investigated whether propiverine and its metabolites can additionally antagonize α(1)-adrenoceptors. Human prostate and porcine trigone muscle strips were used to explore inhibition of α(1)-adrenoceptor-mediated contractile responses. Chinese hamster ovary (CHO) cells expressing cloned human α(1)-adrenoceptors were used to determine direct interactions with the receptor in radioligand binding and intracellular Ca(2+) elevation assays. Propiverine concentration-dependently reversed contraction of human prostate pre-contracted with 10 μM phenylephrine (-log IC(50) [M] 4.43 ± 0.08). Similar inhibition was observed in porcine trigone (-log IC(50) 5.01 ± 0.05), and in additional experiments consisted mainly of reduced maximum phenylephrine responses. At concentrations ≥1 μM, the propiverine metabolite M-14 also relaxed phenylephrine pre-contracted trigone strips, whereas metabolites M-5 and M-6 were ineffective. In radioligand binding experiments, propiverine and M-14 exhibited similar affinity for the three α(1)-adrenoceptor subtypes with -log K (i) [M] values ranging from 4.72 to 4.94, whereas the M-5 and M-6 did not affect [(3)H]-prazosin binding. In CHO cells, propiverine inhibited α(1)-adrenoceptor-mediated Ca(2+) elevations with similar potency as radioligand binding, again mainly by reducing maximum responses. In contrast to other muscarinic receptor antagonists, propiverine exerts additional L-type Ca(2+)-channel blocking and α(1)-adrenoceptor antagonist effects. It remains to be determined clinically, how these additional properties contribute to the clinical effects of propiverine, particularly in male voiding dysfunctio

Elliptical Galaxy Dynamics

A review of elliptical galaxy dynamics, with a focus on nonintegrable models. Topics covered include torus construction; modelling axisymmetric galaxies; triaxiality; collisionless relaxation; and collective instabilities.Comment: 97 Latex pages, 14 Postscript figures, uses aastex. To appear in Publications of the Astronomical Society of the Pacific, February 199

ICF components of corresponding outcome measures in flexor tendon rehabilitation – a systematic review

<p>Abstract</p> <p>Background</p> <p>The International Classification of Functioning, Disability and Health (ICF) delivers a holistic approach to health conditions. The objective of the present study is to provide an overview of flexor tendon rehabilitation outcome measures with respect to ICF components. Furthermore, it aims to investigate to which extent current assessments measure aspects of health according to these components primarily focussing on <it>activity </it>and <it>participation</it>.</p> <p>Methods</p> <p>A systematic literature review was conducted to identify all studies meeting the inclusion criteria. Studies were only included if they assessed more than <it>body function and body structure </it>and referred to the ICF components <it>activity </it>and <it>participation</it>. The outcome measures were analysed and their linkage to the ICF components were investigated to examine to which degree aspects of health outcome as defined by the ICF were considered.</p> <p>Results</p> <p>As anticipated, the application of outcome measures after flexor tendon repair is non conform. In many studies the emphasis still lies on physical impairment neglecting activity limitations and participation restrictions.</p> <p>Aspects of health after flexor tendon repair could be assessed more adequately and cover patients' needs more sufficiently by choosing outcome measures which refer to all aspects of functioning.</p> <p>Conclusion</p> <p>The ICF can help to identify aspects of health which are not being considered. The ICF can help promote further development of adequate outcome measures including activity limitation and participation restrictions by targeting patient centred goals and respecting patients' needs.</p