Amnesia in Frontotemporal Dementia with Amyotrophic Lateral Sclerosis, Masquerading Alzheimer's Disease

A 68-year-old man with a clinical diagnosis of Alzheimer's disease (AD) later developed amyotrophic lateral sclerosis (ALS), which was confirmed at autopsy at age 72 years. Because neuronal loss and AD-type pathologies (Braak stage II for neurofibrillary tangles) were scant, TDP-43-positive intracytoplasmic inclusions in hippocampal dentate granular cells and in neurons in the subiculum and amygdala, even though small in amount, may represent the earliest lesions of ALS-related dementia and could be the cause of dementia in this patient. Although the persistent elevation of creatine kinase from the onset could be a pointer to the presence of motor involvement, more accurate characterization of dementia, which may differentiate ALS-related dementia and AD, is necessary

Parafibromin tumor suppressor enhances cell growth in the cells expressing SV40 large T antigen

Parafibromin is a 531-amino acid protein encoded by HRPT2, a putative tumor suppressor gene recently implicated in the autosomal dominant hyperparathyroidism-jaw tumor familial cancer syndrome and sporadic parathyroid carcinoma. To investigate effects of parafibromin's overexpression on cell proliferation, we performed assays in four different cell lines. The transient overexpression of parafibromin inhibited cell growth in HEK293 and NIH3T3 cells, but enhanced cell growth in the SV40 large T antigen expressing-cell lines such as 293FT and COS7 cells. In 293FT cells, parafibromin was found to interact with SV40 large T antigen and its overexpression promoted entry into the S phase, implying that the interaction enhanced progression through the cell cycle. The tumor suppressor protein parafibromin acts as a positive regulator of cell growth like an oncoprotein in the presence of SV40 large T antigen

Search for high column density systems with gamma ray bursts

We investigate the possibility to search for metal-poor high column density (> 10^{23} cm^{-2}) clouds at high redshift (z) by using gamma ray burst (GRB) afterglows. Such clouds could be related to primeval galaxies which may cause a burst of star formation. We show that a large part of hydrogen is in molecular form in such a high column density environment. Therefore, hydrogen molecules (H2) rather than hydrogen atoms should be searched for. Then we show that infrared H2 lines are detectable for metal-poor (< 0.01 solar metallicity) high column density (log NH [cm^{-2}] > 23.5) systems at high-z without suffering dust extinction. Optical properties of dust in infrared could also be constrained by observations of high column density systems. Some possible scenarios of producing high column density systems are finally discussed in the context of galaxy evolution.Comment: 6 pages, 5 figures, Accepted for publication in Astronomy & Astrophysic

Morphology and environment of galaxies with disc breaks in the S4G and NIRS0S

We study the surface brightness profiles of disc galaxies in the 3.6 &mu;m images from the Spitzer Survey of Stellar Structure in Galaxies (S4G) and Ks-band images from the Near-Infrared S0-Sa galaxy Survey (NIRS0S).We particularly connect properties of single exponential (type I), downbending double exponential (type II), and upbending double exponential (type III) disc profile types, to structural components of galaxies by using detailed morphological classifications, and size measurements of rings and lenses. We also study how the local environment of the galaxies affects the profile types by calculating parameters describing the environmental density and the tidal interaction strength. We find that in majority of type II profiles the break radius is connected with structural components such as rings, lenses, and spirals. The exponential disc sections of all three profile types, when considered separately, follow the disc scaling relations. However, the outer discs of type II, and the inner discs of type III, are similar in scalelength to the single exponential discs. Although the different profile types have similar mean environmental parameters, the scalelengths of the type III profiles show a positive correlation with the tidal interaction strength. &copy; 2014 The Authors. Published by Oxford University Press on behalf of the Royal Astronomical Society.</p

Germline deletion and a somatic mutation of the PRKAR1A gene in a Carney complex-related pituitary adenoma

Objective: The objective was to assess involvement of loss of the PRKAR1A gene encoding a type 1α regulatory subunit of cAMP-dependent protein kinase A located on 17q24 in a Carney complex (CNC)-related pituitary adenoma. Design: We investigated aberrations of the PRKAR1A gene in a CNC patient with a GH-producing pituitary adenoma, whose family has 3 other members with probable CNC. Methods: A gene mutation was identified by a standard DNA sequencing method based on PCR. DNA copy number was measured to evaluate allelic loss on 17q24 by quantitative PCR. The breakpoints of deletion were determined by cloning a rearranged region in the deleted allele. Results: A PRKAR1A mutation of c.751_758del8 (p.S251LfsX16) was found in genomic DNA obtained from a pituitary adenoma, but not leukocytes from the patient. Reduced DNA copy number at loci including the PRKAR1A gene on 17q24 was detected in both the tumor and leukocytes, suggesting a deletion at the loci at the germline level. The deletion size was determined to be approximately 0.5 Mb and this large deletion was also found in other 2 family members. Conclusion: This is the first case showing a CNC-related pituitary adenoma with the combination of somatic mutation and a large inherited deletion of the PRKAR1A gene. Biallelic inactivation of PRKAR1A may be necessary for the development of CNC-related pituitary adenoma

The baryonic tully-fisher relationship for S4G galaxies and the "condensed" baryon fraction of galaxies

We combine data from the Spitzer Survey for Stellar Structure in Galaxies, a recently calibrated empirical stellar mass estimator from Eskew et al., and an extensive database of H I spectral line profiles to examine the baryonic Tully-Fisher (BTF) relation. We find (1) that the BTF has lower scatter than the classic Tully-Fisher (TF) relation and is better described as a linear relationship, confirming similar previous results, (2) that the inclusion of a radial scale in the BTF decreases the scatter but only modestly, as seen previously for the TF relation, and (3) that the slope of the BTF, which we find to be 3.5 &plusmn; 0.2 (&Delta;log M v ), implies that on average a nearly constant fraction (0.4) of all baryons expected to be in a halo are &quot;condensed&quot; onto the central region of rotationally supported galaxies. The condensed baryon fraction, M , is, to our measurement precision, nearly independent of galaxy circular velocity (our sample spans circular velocities, v , between 60 and 250 km s, but is extended to v 10 km s using data from the literature). The observed galaxy-to-galaxy scatter in this fraction is generally &le; a factor of 2 despite fairly liberal selection criteria. These results imply that cooling and heating processes, such as cold versus hot accretion, mass loss due to stellar winds, and active galactic nucleus driven feedback, to the degree that they affect the global galactic properties involved in the BTF, are independent of halo mass for galaxies with 10 &lt; v &lt; 250 km s and typically introduce no more than a factor of two range in the resulting M . Recent simulations by Aumer et al. of a small sample of disk galaxies are in excellent agreement with our data, suggesting that current simulations are capable of reproducing the global properties of individual disk galaxies. More detailed comparison to models using the BTF holds great promise, but awaits improved determinations of the stellar masses. &copy; 2014. The American Astronomical Society. All rights reserved.</p

Morphological parameters of a spitzer survey of stellar structure in galaxies

The morphology of galaxies can be quantified to some degree using a set of scale-invariant parameters. Concentration (C), asymmetry (A), smoothness (S), the Gini index (G), the relative contribution of the brightest pixels to the second-order moment of the flux (M), ellipticity (E), and the Gini index of the second-order moment (G) have all been applied to morphologically classify galaxies at various wavelengths. Here, we present a catalog of these parameters for the Spitzer Survey of stellar structure in Galaxies, a volume-limited, near-infrared (NIR) imaging survey of nearby galaxies using the 3.6 and 4.5 &mu;m channels of the Infrared Array Camera on board the Spitzer Space Telescope. Our goal is to provide a reference catalog of NIR quantified morphology for high-redshift studies and galaxy evolution models with enough detail to resolve stellar mass morphology. We explore where normal, non-interacting galaxies-those typically found on the Hubble tuning fork-lie in this parameter space and show that there is a tight relation between concentration (C) and M for normal galaxies. M can be used to classify galaxies into earlier and later types (i.e., to separate spirals from irregulars). Several criteria using these parameters exist to select systems with a disturbed morphology, i.e., those that appear to be undergoing a tidal interaction. We examine the applicability of these criteria to Spitzer NIR imaging. We find that four relations, based on the parameters A and S, G and M, G, C, and M, respectively, select outliers in morphological parameter space, but each selects different subsets of galaxies. Two criteria (G &gt; 0.6, G &gt;-0.115 &times; M + 0.384) seem most appropriate to identify possible mergers and the merger fraction in NIR surveys. We find no strong relation between lopsidedness and most of these morphological parameters, except for a weak dependence of lopsidedness on concentration and M. &copy; 2014. The American Astronomical Society. All rights reserved.</p

Embedded star formation in S4G galaxy dust lanes

Star-forming regions that are visible at 3.6 &mu;m and H&alpha; but not in the u, g, r, i, z bands of the Sloan Digital Sky Survey are measured in five nearby spiral galaxies to find extinctions averaging &sim;3.8 mag and stellar masses averaging &sim;5 &times; 10 M . These regions are apparently young star complexes embedded in dark filamentary shock fronts connected with spiral arms. The associated cloud masses are &sim;10 M . The conditions required to make such complexes are explored, including gravitational instabilities in spiral-shocked gas and compression of incident clouds. We find that instabilities are too slow for a complete collapse of the observed spiral filaments, but they could lead to star formation in the denser parts. Compression of incident clouds can produce a faster collapse but has difficulty explaining the semi-regular spacing of some regions along the arms. If gravitational instabilities are involved, then the condensations have the local Jeans mass. Also in this case, the near-simultaneous appearance of equally spaced complexes suggests that the dust lanes, and perhaps the arms too, are relatively young. &copy; 2014. The American Astronomical Society. All rights reserved.</p