Perceptions of Familial Risk in those Seeking a Genetic Risk Assessment for Alzheimer’s Disease

Perceived risk is a complex concept that influences the genetic counseling process and can affect client coping and behavior. Although the association between family history and risk perception is well recognized in the literature, no studies have explored this relationship specifically in those seeking genetic susceptibility testing for a common chronic condition. REVEAL is a randomized trial assessing the impact of APOE disclosure and genetic risk assessment for Alzheimer’s disease (AD). Using baseline REVEAL data, we hypothesized that there would be a significant association between the degree of AD family history and risk perception of AD, and that this relationship would be stronger in those who believed that genetics is a very important AD risk factor. In our sample of 293 participants, we found that a higher self‐perceived risk of AD was associated with strength of family history of AD (p < 0.001), belief in genetics as an important AD risk factor (p < 0.001), being female (p < 0.001) and being Caucasian (p = 0.02). These results are the first to demonstrate the association between family history and risk perception in persons volunteering for genetic susceptibility testing for a common complex disease.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147109/1/jgc40130.pd

In Situ Positron Annihilation Spectroscopy Analysis on Low-Temperature Irradiated Semiconductors, Challenges and Possibilities

A unique experimental setup at the Accelerator Laboratory of the University of Helsinki enables in situ positron annihilation spectroscopy (PAS) analysis on ion irradiated samples. In addition, the system enables temperature control (10-300 K) of the sample both during irradiation and during subsequent positron annihilation measurements. Using such a system for defect identification and annealing studies comes with a plethora of possibilities for elaborate studies. However, the system also poses some restrictions and challenges to these possibilities, both related to irradiation and to the PAS analysis. This review tries to address these issues.Peer reviewe

Identification of Retinal Ganglion Cells and Their Projections Involved in Central Transmission of Information about Upward and Downward Image Motion

The direction of image motion is coded by direction-selective (DS) ganglion cells in the retina. Particularly, the ON DS ganglion cells project their axons specifically to terminal nuclei of the accessory optic system (AOS) responsible for optokinetic reflex (OKR). We recently generated a knock-in mouse in which SPIG1 (SPARC-related protein containing immunoglobulin domains 1)-expressing cells are visualized with GFP, and found that retinal ganglion cells projecting to the medial terminal nucleus (MTN), the principal nucleus of the AOS, are comprised of SPIG1+ and SPIG1− ganglion cells distributed in distinct mosaic patterns in the retina. Here we examined light responses of these two subtypes of MTN-projecting cells by targeted electrophysiological recordings. SPIG1+ and SPIG1− ganglion cells respond preferentially to upward motion and downward motion, respectively, in the visual field. The direction selectivity of SPIG1+ ganglion cells develops normally in dark-reared mice. The MTN neurons are activated by optokinetic stimuli only of the vertical motion as shown by Fos expression analysis. Combination of genetic labeling and conventional retrograde labeling revealed that axons of SPIG1+ and SPIG1− ganglion cells project to the MTN via different pathways. The axon terminals of the two subtypes are organized into discrete clusters in the MTN. These results suggest that information about upward and downward image motion transmitted by distinct ON DS cells is separately processed in the MTN, if not independently. Our findings provide insights into the neural mechanisms of OKR, how information about the direction of image motion is deciphered by the AOS

Antiferromagnetic Phases of One-Dimensional Quarter-Filled Organic Conductors

The magnetic structure of antiferromagnetically ordered phases of quasi-one-dimensional organic conductors is studied theoretically at absolute zero based on the mean field approximation to the quarter-filled band with on-site and nearest-neighbor Coulomb interaction. The differences in magnetic properties between the antiferromagnetic phase of (TMTTF)$_2$X and the spin density wave phase in (TMTSF)$_2$X are seen to be due to a varying degrees of roles played by the on-site Coulomb interaction. The nearest-neighbor Coulomb interaction introduces charge disproportionation, which has the same spatial periodicity as the Wigner crystal, accompanied by a modified antiferromagnetic phase. This is in accordance with the results of experiments on (TMTTF)$_2$Br and (TMTTF)$_2$SCN. Moreover, the antiferromagnetic phase of (DI-DCNQI)$_2$Ag is predicted to have a similar antiferromagnetic spin structure.Comment: 8 pages, LaTeX, 4 figures, uses jpsj.sty, to be published in J. Phys. Soc. Jpn. 66 No. 5 (1997

Finite-Temperature Properties across the Charge Ordering Transition -- Combined Bosonization, Renormalization Group, and Numerical Methods

We theoretically describe the charge ordering (CO) metal-insulator transition based on a quasi-one-dimensional extended Hubbard model, and investigate the finite temperature ($T$) properties across the transition temperature, $T_{\rm CO}$. In order to calculate $T$ dependence of physical quantities such as the spin susceptibility and the electrical resistivity, both above and below $T_{\rm CO}$, a theoretical scheme is developed which combines analytical methods with numerical calculations. We take advantage of the renormalization group equations derived from the effective bosonized Hamiltonian, where Lanczos exact diagonalization data are chosen as initial parameters, while the CO order parameter at finite-$T$ is determined by quantum Monte Carlo simulations. The results show that the spin susceptibility does not show a steep singularity at $T_{\rm CO}$, and it slightly increases compared to the case without CO because of the suppression of the spin velocity. In contrast, the resistivity exhibits a sudden increase at $T_{\rm CO}$, below which a characteristic $T$ dependence is observed. We also compare our results with experiments on molecular conductors as well as transition metal oxides showing CO.Comment: 9 pages, 8 figure

Charge and spin order in one-dimensional electron systems with long-range Coulomb interactions

We study a system of electrons interacting through long--range Coulomb forces on a one--dimensional lattice, by means of a variational ansatz which is the strong--coupling counterpart of the Gutzwiller wave function. Our aim is to describe the quantum analogue of Hubbard's classical ``generalized Wigner crystal''. We first analyse charge ordering in a system of spinless fermions, with particular attention to the effects of lattice commensurability. We argue that for a general (rational) number of electrons per site $n$ there are three regimes, depending on the relative strength $V$ of the long--range Coulomb interaction (as compared to the hopping amplitude $t$). For very large $V$ the quantum ground state differs little from Hubbard's classical solution, for intermediate to large values of $V$ we recover essentially the Wigner crystal of the continuum model, and for small $V$ the charge modulation amounts to a small--amplitude charge--density wave. We then include the spin degrees of freedom and show that in the Wigner crystal regimes (i.e. for large $V$) they are coupled by an antiferromagnetic kinetic exchange $J$, which turns out to be smaller than the energy scale governing the charge degrees of freedom. Our results shed new light on the insulating phases of organic quasi--1D compounds where the long--range part of the interaction is unscreened, and magnetic and charge orderings coexist at low temperatures.Comment: 11 pages, 7 figures, accepted for publication on Phys. Rev.

Radiofrequency ablation of lung tumours

Pulmonary radiofrequency ablation (RFA) has become an increasingly adopted treatment option for primary and metastatic lung tumours. It is mainly performed in patients with unresectable or medically inoperable lung neoplasms. The immediate technical success rate is over 95%, with a low periprocedural mortality rate and 8–12% major complication rate. Pneumothorax represents the most frequent complication, but requires a chest tube drain in less than 10% of cases. Sustained complete tumour response has been reported in 85–90% of target lesions. Lesion size represents the most important risk factor for local recurrence. Survival data are still scarce, but initial results are very promising. In patients with stage I non-small-cell lung cancer, 1- and 2-year survival rates are within the ranges of 78–95% and 57–84%, respectively, with corresponding cancer-specific survival rates of 92% and 73%. In selected cases, the combination of RFA and radiotherapy could improve these results. In patients with colorectal lung metastasis, initial studies have reported survival data that compare favourably with the results of metastasectomy, with up to a 45% 5-year survival rate. Further studies are needed to understand the potential role of RFA as a palliative treatment in more advanced disease and the possible combination of RFA with other treatment options

Charge ordering and antiferromagnetic exchange in layered molecular crystals of the theta type

We consider the electronic properties of layered molecular crystals of the type theta-D$_2$A, where A is an anion and D is a donor molecule such as BEDT-TTF [where BEDT-TTF is bis-(ethylenedithia-tetrathiafulvalene)] which is arranged in the theta type pattern within the layers. We argue that the simplest strongly correlated electron model that can describe the rich phase diagram of these materials is the extended Hubbard model on the square lattice at a quarter filling. In the limit where the Coulomb repulsion on a single site is large, the nearest-neighbour Coulomb repulsion, V, plays a crucial role. When V is much larger than the intermolecular hopping integral t the ground state is an insulator with charge ordering. In this phase antiferromagnetism arises due to a novel fourth-order superexchange process around a plaquette on the square lattice. We argue that the charge ordered phase is destroyed below a critical non-zero value V, of the order of t. Slave boson theory is used to explicitly demonstrate this for the SU(N) generalisation of the model, in the large N limit. We also discuss the relevance of the model to the all-organic family beta''-(BEDT-TTF)$_2$SF$_5$YSO$_3$ where Y = CH$_2$CF$_2$, CH$_2$, CHF.Comment: 15 pages, 6 eps figure