Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis

Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis. Familial distal renal tubular acidosis (dRTA) and Southeast Asian ovalocytosis (SAO) may coexist in the same patient. Both can originate in mutations of the anion-exchanger 1 gene (AE1), which codes for band 3, the bicarbonate/chloride exchanger in both the red cell membrane and the basolateral membrane of the collecting tubule alpha-intercalated cell. Dominant dRTA is usually due to a mutation of the AE1 gene, which does not alter red cell morphology. SAO is caused by an AE1 mutation that leads to a nine amino acid deletion of red cell band 3, but by itself does not cause dRTA. Recent gene studies have shown that AE1 mutations are responsible for autosomal recessive dRTA in several countries in Southeast Asia; these patients may be homozygous for the mutation or be compound heterozygotes of two different AE1 mutations, one of which is usually the SAO mutation

Northern Bobwhite Survival Related to Movement on a Reclaimed Surface Coal Mine

Reclaimed coal mines represent opportunity to provide large tracts of early succession habitat essential to northern bobwhite (Colinus virginianus) populations. However, little research has been conducted to explore the potential of reclaimed mine sites and examine bobwhite ecology on these unique areas. Reclaimed mines in Kentucky were planted to non-native species, such as sericea lespedeza (Lespedeza cuneata) and tall fescue (Festuca arundinacea), which do not provide suitable structure for northern bobwhite brood-rearing and movement. Fallow disking (in blocks and linear firebreaks) and planting food plots are part of current management efforts to improve food availability and habitat structure for broods. We trapped and radiomarked 266 northern bobwhites between April 2010 and September 2011 on Peabody Wildlife Management Area, a 3,330-ha reclaimed coal mine in western Kentucky, USA to investigate the effects of current management practices on movement and survival. We calculated seasonal daily movement as the Euclidean distance from a location on day 1 to day 2. Breeding season (1 Apr-30 Sep) movement averaged 128 m in 2010 and 147 m in 2011. Daily movement averaged 163 m during the 2010–2011 non-breeding (1 Oct-31 Mar) season. Multiple regression analysis indicated annual food plots, disk blocks, firebreaks, and roads did not explain variation within daily movement regardless of season (R2 0.04). Individual bird/covey, precipitation, hours between locations, and average temperature also poorly explained movement variation. We used Program MARK to model the effect of season, year, mean daily movement, mean distance to annual food plots, disk blocks, firebreaks, and roads on survival. The season (breeding/non-breeding) model explained 81% of the variation in survival, and the year model explained 13%, suggesting management was not driving survival. We do not believe disking should be discontinued, although it did not influence movement, as it can improve vegetation structure important to nest-site selection and broods

Survival of Radio-Marked Versus Leg-Banded Northern Bobwhite in Kentucky

Understanding the impact of radiomarking northern bobwhite (Colinus virginianus) survival is essential because of the widespread reliance on radiotelemetry to assess vital population parameters. We conducted an assessment of bobwhite populations within the Central Hardwoods Bird Conservation Region using leg banding and radiotelemetry on Peabody Wildlife Management Area, a 3,330-ha reclaimed surface mine in western Kentucky. We captured bobwhites using baited funnel traps during a 112-day period (23 Jul-11 Nov 2010) and marked 180 with necklace-style radio-transmitters (6 g) and 256 birds with only leg bands. Eighty-five birds were opportunistically recaptured in funnel traps, of which 81 were used in developing survival estimates. We used the Cormack-Jolly-Seber model in Program MARK to estimate periodic survival rates (PSR) of both sample groups. Candidate models which included body mass as a covariate explained the most variability in survival. The estimated PSR was 0.309 6 0.109 based on the best approximating model and was 0.302 6 0.108 from model averaging. We calculated a point of inflection for this model, which suggested a mass ‘threshold’ of 131g, above which survival improved at a decreasing rate. The model including only the radio-transmitter effect had a DAICc .3 and was considered to be non-plausible. Further research with larger samples is needed to develop more robust survival models to fully assess the effects of radiomarking bobwhites. It does not appear, based on our study, that radio transmitters adversely affect survival of northern bobwhite

Monitoring Northern Bobwhite Breeding Populations in the Central Hardwoods Bird Conservation Region

Monitoring northern bobwhite (Colinus virginianus) breeding populations is an important component of the National Bobwhite Conservation Initiative as a means of evaluating success of achieving population goals. Northern bobwhite populations declined by 3.8% from 1980 to 2006 in the Central Hardwoods Bird Conservation Region (CHBCR). Northern bobwhite research in the CHBCR is limited and population trend estimates are based on North American Breeding Bird Survey (BBS) data. Monitoring northern bobwhite populations and developing accurate population estimates by incorporating detection functions and occupancy estimates are important components of the conservation initiative in this region. We documented northern bobwhite abundance throughout the CHBCR via a roadside-based removal and distance sampling survey method, and assessed differences in detection with respect to observer, northern bobwhite relative abundance, and land cover. We also addressed the potential for a roadside survey bias to ascertain if there was a seasonal, or site effect on northern bobwhite detection and occupancy through repeated surveys. Finally, we measured northern bobwhite calling rates by time of day and day of the breeding season to assess bobwhite availability for detection with radiotelemetry data. The spatially-balanced, roadside, monitoring strategy used counties as basic sampling units within bobwhite focal areas in the CHBCR (n 1⁄4 37 counties). We randomly located 5, 15-km monitoring routes in each focal county along secondary roads. We conducted 5-min unlimited distance point counts along each route (30 counts/route) from May through July, 2008–2011. We conducted off-road and radiotelemetry surveys on Peabody Wildlife Management Area (PWMA), and additional off-road surveys on Fort Campbell Military Base, Tennessee-Kentucky and on private lands in Livingston County, Kentucky from May through July, 2010–2011.We detected 6,440 individual northern bobwhite on roadside survey routes; .95% of the survey routes had at least 1 northern bobwhite detection. We developed a suite of 17 a priori removal models in Program MARK to estimate roadside survey detection probabilities. The best model included differences in time interval detection, observer, and 3 covariates: distance from the observer, number of individuals aurally detected, and percent forested habitat within a 100-m radius of the point count. Detection probabilities were greatest during the first minute of detection, and then decreased. Detection probabilities (6 SD) decreased as distance from the observer (b 1⁄4 0.0020 6 0.0005, n 1⁄4 6,440) increased, but increased as the number of individuals detected at a point (b 1⁄4 0.15 6 0.04, n 1⁄4 6,440) increased. We used the most parsimonious model and mean covariate values to generate overall parameter estimates, which differed between observers and time intervals. We detected 637 individual northern bobwhite on 90 off-road transects across 4 sites from 2010 to 2011. We developed a suite of 10 a priori occupancy models in Program MARK to estimate off-road survey detection probabilities and site occupancy. Detection probabilities were greater (.26%) during the second point count visit (q 1⁄4 0.69 6 0.03) versus first (q 1⁄4 0.51 6 0.04) and third (q 1⁄4 0.47 6 0.04) visits (n 1⁄4 270). Detection probability increased as relative abundance increased (b 1⁄4 2.90 6 0.22, n 1⁄4 270). Occupancy was held constant and was not affected by any covariates evaluated. Peak northern bobwhite detection probabilities occurred from 1 to 25 June, an important consideration for population models that use breeding season survey data. Distance from road was not a significant grouping variable in any of the models, suggesting that roadside bias may not be an important consideration in designing bobwhite monitoring strategies. We located 295 radio-marked male bobwhites from 2010 to 2011. Marked males called on 115 of 295 points (39.0%). The furthest distance a radio-marked male moved during the survey period was 60 m, and movement distances were generally small (x ̄ 1⁄4 4.2 6 10.3 m, n 1⁄4 295). We compared 8 a priori time-of-detection models in Program MARK to estimate radiotelemetry survey detection probabilities. We grouped surveys based on year and included time-of-day, and day- of-year as additional temporal covariates. Detection probability was inversely related to time of day (b 1⁄4 0.04 6 0.10, n 1⁄4 105), but positively related to day of year (b 1⁄4 0.010 6 0.008, n 1⁄4 105); b estimates overlapped 0 suggested weak relationships. Our results documented the first attempt to explicitly model differences in northern bobwhite detection related to spatial (potential roadside biases, habitat parameters, northern bobwhite distances), temporal (seasonality, annual fluctuations), and behavioral (observer, northern bobwhite relative abundance) variables. We used a combination of 3 methodologies to estimate detection parameters and will adjust indices of relative abundance and density estimates across a broad spatial extent. Our spatially-balanced roadside survey can be effectively used to monitor northern bobwhite populations across broad spatial extents and incorporates the components of detection to improve estimates of northern bobwhite relative abundance

Resolving the cofactor-binding site in the proline biosynthetic enzyme human pyrroline-5-carboxylate reductase 1

Pyrroline-5-carboxylate reductase (PYCR) is the final enzyme in proline biosynthesis, catalyzing the NAD(P)H-dependent reduction of [?]1-pyrroline-5-carboxylate (P5C) to proline. Mutations in the PYCR1 gene alter mitochondrial function and cause the connective tissue disorder cutis laxa. Furthermore, PYCR1 is overexpressed in multiple cancers, and the PYCR1 knock-out suppresses tumorigenic growth, suggesting that PYCR1 is a potential cancer target. However, inhibitor development has been stymied by limited mechanistic details for the enzyme, particularly in light of a previous crystallographic study that placed the cofactor-binding site in the C-terminal domain rather than the anticipated Rossmann fold of the N-terminal domain. To fill this gap, we report crystallographic, sedimentation- velocity, and kinetics data for human PYCR1. Structures of binary complexes of PYCR1 with NADPH or proline determined at 1.9 Å resolution provide insight into cofactor and substrate recognition.WeseeNADPHbound to the Rossmann fold, over 25 Å from the previously proposed site. The 1.85 Å resolution structure of a ternary complex containing NADPH and a P5C/proline analog provides a model of the Michaelis complex formed during hydride transfer. Sedimentation velocity shows that PYCR1 forms a concentration-dependent decamer in solution, consistent with the pentamer-of-dimers assembly seen crystallographically. Kinetic and mutational analysis confirmed several features seen in the crystal structure, including the importance of a hydrogen bond between Thr-238 and the substrate as well as limited cofactor discrimination

Transcranial Magnetic Stimulation for Post-traumatic Stress Disorder

Post-traumatic stress disorder (PTSD) is a psychiatric disorder that causes significant functional impairment and is related to altered stress response and reinforced learned fear behavior. PTSD has been found to impact three functional networks in the brain: default mode, executive control, and salience. The executive control network includes the dorsolateral prefrontal cortex (DLPFC) and lateral PPC. The salience network involves the anterior cingulate cortex, anterior insula, and amygdala. This latter network has been found to have increased functional connectivity in PTSD. Transcranial Magnetic Stimulation (TMS) is a technique used in treating PTSD and involves stimulating specific portions of the brain through electromagnetic induction. Currently, high-frequency TMS applied to the left dorsolateral prefrontal cortex (DLPFC) is approved for use in treating major depressive disorder (MDD) in patients who have failed at least one medication trial. In current studies, high-frequency stimulation has been shown to be more effective in PTSD rating scales posttreatment than low-frequency stimulation. The most common side effect is headache and scalp pain treated by mild analgesics. Seizures are a rare side effect and are usually due to predisposing factors. Studies have been done to assess the overall efficacy of TMS. However, results have been conflicting, and sample sizes were small. More research should be done with larger sample sizes to test the efficacy of TMS in the treatment of PTSD. Overall, TMS is a relatively safe treatment. Currently, the only FDA- approved to treat refractory depression, but with the potential to treat many other conditions

Searching for gravitational waves from known pulsars

We present upper limits on the amplitude of gravitational waves from 28 isolated pulsars using data from the second science run of LIGO. The results are also expressed as a constraint on the pulsars' equatorial ellipticities. We discuss a new way of presenting such ellipticity upper limits that takes account of the uncertainties of the pulsar moment of inertia. We also extend our previous method to search for known pulsars in binary systems, of which there are about 80 in the sensitive frequency range of LIGO and GEO 600.Comment: Accepted by CQG for the proceeding of GWDAW9, 7 pages, 2 figure

A Joint Search for Gravitational Wave Bursts with AURIGA and LIGO

The first simultaneous operation of the AURIGA detector and the LIGO observatory was an opportunity to explore real data, joint analysis methods between two very different types of gravitational wave detectors: resonant bars and interferometers. This paper describes a coincident gravitational wave burst search, where data from the LIGO interferometers are cross-correlated at the time of AURIGA candidate events to identify coherent transients. The analysis pipeline is tuned with two thresholds, on the signal-to-noise ratio of AURIGA candidate events and on the significance of the cross-correlation test in LIGO. The false alarm rate is estimated by introducing time shifts between data sets and the network detection efficiency is measured with simulated signals with power in the narrower AURIGA band. In the absence of a detection, we discuss how to set an upper limit on the rate of gravitational waves and to interpret it according to different source models. Due to the short amount of analyzed data and to the high rate of non-Gaussian transients in the detectors noise at the time, the relevance of this study is methodological: this was the first joint search for gravitational wave bursts among detectors with such different spectral sensitivity and the first opportunity for the resonant and interferometric communities to unify languages and techniques in the pursuit of their common goal.Comment: 18 pages, IOP, 12 EPS figure

All-sky search for periodic gravitational waves in LIGO S4 data

We report on an all-sky search with the LIGO detectors for periodic gravitational waves in the frequency range 50-1000 Hz and with the frequency's time derivative in the range -1.0E-8 Hz/s to zero. Data from the fourth LIGO science run (S4) have been used in this search. Three different semi-coherent methods of transforming and summing strain power from Short Fourier Transforms (SFTs) of the calibrated data have been used. The first, known as "StackSlide", averages normalized power from each SFT. A "weighted Hough" scheme is also developed and used, and which also allows for a multi-interferometer search. The third method, known as "PowerFlux", is a variant of the StackSlide method in which the power is weighted before summing. In both the weighted Hough and PowerFlux methods, the weights are chosen according to the noise and detector antenna-pattern to maximize the signal-to-noise ratio. The respective advantages and disadvantages of these methods are discussed. Observing no evidence of periodic gravitational radiation, we report upper limits; we interpret these as limits on this radiation from isolated rotating neutron stars. The best population-based upper limit with 95% confidence on the gravitational-wave strain amplitude, found for simulated sources distributed isotropically across the sky and with isotropically distributed spin-axes, is 4.28E-24 (near 140 Hz). Strict upper limits are also obtained for small patches on the sky for best-case and worst-case inclinations of the spin axes.Comment: 39 pages, 41 figures An error was found in the computation of the C parameter defined in equation 44 which led to its overestimate by 2^(1/4). The correct values for the multi-interferometer, H1 and L1 analyses are 9.2, 9.7, and 9.3, respectively. Figure 32 has been updated accordingly. None of the upper limits presented in the paper were affecte

Search for gravitational waves from binary inspirals in S3 and S4 LIGO data

We report on a search for gravitational waves from the coalescence of compact binaries during the third and fourth LIGO science runs. The search focused on gravitational waves generated during the inspiral phase of the binary evolution. In our analysis, we considered three categories of compact binary systems, ordered by mass: (i) primordial black hole binaries with masses in the range 0.35 M(sun) < m1, m2 < 1.0 M(sun), (ii) binary neutron stars with masses in the range 1.0 M(sun) < m1, m2 < 3.0 M(sun), and (iii) binary black holes with masses in the range 3.0 M(sun)< m1, m2 < m_(max) with the additional constraint m1+ m2 < m_(max), where m_(max) was set to 40.0 M(sun) and 80.0 M(sun) in the third and fourth science runs, respectively. Although the detectors could probe to distances as far as tens of Mpc, no gravitational-wave signals were identified in the 1364 hours of data we analyzed. Assuming a binary population with a Gaussian distribution around 0.75-0.75 M(sun), 1.4-1.4 M(sun), and 5.0-5.0 M(sun), we derived 90%-confidence upper limit rates of 4.9 yr^(-1) L10^(-1) for primordial black hole binaries, 1.2 yr^(-1) L10^(-1) for binary neutron stars, and 0.5 yr^(-1) L10^(-1) for stellar mass binary black holes, where L10 is 10^(10) times the blue light luminosity of the Sun.Comment: 12 pages, 11 figure