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The SCN5A gene is implicated in many arrhythmogenic and cardiomyopathic processes. We identified a novel SCN5A variant in a family with significant segregation in individuals affected with progressive sinus and atrioventricular nodal disease, atrial arrhythmia, dilated cardiomyopathy, and early sudden cardiac arrest.
A patient pedigree was created following the clinical evaluation of three affected individuals, two monozygotic twins and a paternal half-brother, which lead to the evaluation of a paternal half-sister (four siblings with the same father and three mothers) all of whom experienced varying degrees of atrial arrhythmias, conduction disease, and dilated cardiomyopathy in addition to a paternal history of unexplained death in his 50s with similar autopsy findings. The index male underwent sequencing of 58 genes associated with cardiomyopathies. Sanger sequencing was used to provide data for bases with insufficient coverage and for bases in some known regions of genomic segmental duplications. All clinically significant and novel variants were confirmed by independent Sanger sequencing.
All relatives tested were shown to have the same SCN5A variant of unknown significance (p. Asp197His) and the monozygotic twins shared a co-occurring NEXN (p. Glu575*). Segregation analysis demonstrates likely pathogenic trait for the SCN5A variant with an additional possible role for the NEXN variant in combination.
There is compelling clinical evidence suggesting that the SCN5A variant p. Asp197His may be re-classified as likely pathogenic based on the segregation analysis of our family of interest. Molecular mechanism studies are pending.
The Duke Twins Study of Memory in Aging is an ongoing, longitudinal study of cognitive change and dementia in the population-based National Academy of Sciences-National Research Council (NAS-NRC) Twin Registry of World War II Male Veterans. The primary goal of this study has been to estimate the overall genetic and environmental contributions to dementia with a specific focus on Alzheimer's disease. An additional goal has been to examine specific genetic and environmental antecedents of cognitive decline and dementia. Since 1989, we have completed 4 waves of data collection. Each wave included a 2-phase telephone cognitive screening protocol, followed by an in-home standardized clinical assessment for those with suspected dementia. For many participants, we have obtained postmortem neuro-pathological confirmation of the diagnosis of dementia. In addition to data on cognition, we have also collected information on occupational history, medical history, medications and other lifetime experiences that may influence cognitive function in late life. We provide an overview of the study's methodology and describe the focus of recent research.
The orange coating (varnish) that forms on the undersides (ventral sides) of clasts in desert pavements constitutes a potential relative-age indicator. Using Munsell color notation, we semiquantified the color of the orange, ventral varnish on the undersides of clasts from 15 different alluvial fan and terrace surfaces of various ages ranging from less than 500 to about 25,000 yr. All of the surfaces studied are located along the central portion of the left-lateral Garlock fault, in the Mojave Desert of southern California. The amount of left-lateral offset may be used to determine the relative ages of the surfaces. The previously published slip rate of the fault may also be used to estimate the absolute age of each surface. The color of the ventral varnish is strongly correlated with surface age and appears to be a more reliable age-indicator than the percentage coverage of dorsal varnish. Soil development indices also were not as strongly correlated with age, as were the colors of the ventral varnish. In particular, rubification appears to be more useful than soils for distinguishing relative ages among Holocene surfaces. Humidity sensors indicated that the undersides of clasts condensed moisture nightly for a period of several days to over a week after each rain. These frequent wet-dry cycles may be responsible for the rapid development of clast rubification on Holocene surfaces.
The fourth season of the Fezzan Project continued the interdisciplinary approaches of previous seasons. Geographical and environmental work focused principally in sampling sediments for scientific dating and with integrating ground observation with remote sensing data. Excavations continued at Old Germa, where the site has now reached Garamantian levels. In a separate development, the tentative identification has been made of an early mosque at the site, in an area adjacent to the G1 excavation trench. Substantial results were gained from work aimed at enhancing the important data recorded by Charles Daniels in his earlier excavations and survey in the Wadi al-Hayat. The enhancement of the Daniels' survey archive was integrated with completion of the wider prospection being undertaken by the new project. This survey included fieldwalking, standing building survey, analysis of the foggara irrigation systems and recording of rock art scenes. Finds work comprised the finalisation of a pottery type series for the Germa area, the study of small finds from the recent survey work, botanical analysis and completion of lithics recording. A programme of radiocarbon dating is now being undertaken to improve the phasing of sites and monuments. The first two volumes of final reports are now in preparation.
We present a model for several early stages of the sensorimotor transformations involved in targeted arm movement. In psychophysical experiments, human subjects pointed to the remembered locations of randomly placed targets in three-dimensional space. They made consistent errors in distance, and from these errors stages in the sensorimotor transformation were deduced. When subjects attempted to move the right index finger to a virtual target they consistently undershot the distance of the more distal targets. Other experiments indicated that the error was in the sensorimotor transformation rather than in the perception of distance. The error was most consistent when evaluated using a spherical coordinate system based at the right shoulder, indicating that the neural representation of target parameters is transformed from a retinocentric representation to a shoulder-centered representation. According to the model, the error in distance results from the neural implementation of a linear approximation in the algorithm to transform shoulder-centered target parameters into a set of arm orientations appropriate for placing the finger on the target. The transformation to final arm orientations places visually derived information into a frame of reference where it can readily be combined with kinesthetically derived information about initial arm orientations. The combination of these representations of initial and final arm orientations could give rise to the representation of movement direction recorded in the motor cortex by Georgopoulos and his colleagues. Later stages, such as the transformation from kinematic (position) to dynamic (force) parameters, or to levels of muscle activation, are beyond the scope of the present model.
The efficacy of residual photoresist removal on the top surface of the InGaAs QWW grating and the effects of surface oxides on the optical property of quantum well wires (QWWs) were examined through atomic force microscopy (AFM) and photoluminescence (PL) spectroscopy. Different resist removal treatments, including acetone, ozone and diluted HC1 were evaluated. Both AFM and PL measurements reveal that with the surface cleaning processing we have developed, high luminescence efficiency from the QWWs is conserved after removal of the residual photoresist.
The (0001), (1010), and (2110) faces of Bi have been pulsed laser irradiated at 0.5–0.8 J/cm2 with a Q-switched ruby laser. Nomarski interference contrast microscopy, channeling, and selective chemical etching have been used to investigate the response of the material to the laser irradiation. The response of Bi is shown to be strongly orientation dependent. The χmin and half-angle for the Bi (0001) surface have been measured and compared to theoretical values. The Bi(0001) surface has been shown to regrow epitaxially without an increase in the disorder. In contrast, the epitaxial regrowth of the Bi(1010) and Bi(2110) surfaces show a marked increase in disorder after irradiation. The levels of damage show a strong correlation to the critical resolved shear stress characteristics in the particular crystallographic orientation studied.
The (0001), (1010), and (2110) faces of Bi have been pulse laser melted at
0.5 J/cm2 with a Q-switched Ruby laser. Nomarski Interference
Contrast Microscopy, Channeling, and selective chemical etching have been
used to investigate the response to the laser irradiation. The response of
the material and the level of damage is shown to be strongly correlated to
the critical resolved shear stress characteristics in the particular
crystallographic direction studied.