Τρίτη, 13 Φεβρουαρίου 2018

Complete genome sequence of uropathogenic Escherichia coli isolate UPEC 26-1

Abstract

Urinary tract infections (UTIs) are among the most common infections in humans, predominantly caused by uropathogenic Escherichia coli (UPEC). The diverse genomes of UPEC strains mostly impede disease prevention and control measures. In this study, we comparatively analyzed the whole genome sequence of a highly virulent UPEC strain, namely UPEC 26-1, which was isolated from urine sample of a patient suffering from UTI in Korea. Whole genome analysis showed that the genome consists of one circular chromosome of 5,329,753 bp, comprising 5064 protein-coding genes, 122 RNA genes (94 tRNA, 22 rRNA and 6 ncRNA genes), and 100 pseudogenes, with an average G+C content of 50.56%. In addition, we identified 8 prophage regions comprising 5 intact, 2 incomplete and 1 questionable ones and 63 genomic islands, suggesting the possibility of horizontal gene transfer in this strain. Comparative genome analysis of UPEC 26-1 with the UPEC strain CFT073 revealed an average nucleotide identity of 99.7%. The genome comparison with CFT073 provides major differences in the genome of UPEC 26-1 that would explain its increased virulence and biofilm formation. Nineteen of the total GIs were unique to UPEC 26-1 compared to CFT073 and nine of them harbored unique genes that are involved in virulence, multidrug resistance, biofilm formation and bacterial pathogenesis. The data from this study will assist in future studies of UPEC strains to develop effective control measures.



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Challenges and Facilitators to Promoting a Healthy Food Environment and Communicating Effectively with Parents to Improve Food Behaviors of School Children

Abstract

Background Childhood obesity is a major public health concern and families play an important role. Improving strategies to reach parents and directing tailored nutrition education to them is needed. Purpose To investigate the challenges and facilitators to promoting a healthy environment at home and to identify communication preferences to inform intervention strategies for effectively reaching low-income urban minority families. Procedure Semi-structured focus group interviews were conducted with four groups involving 16 low-income urban parents (94% female; 88% Hispanic/Latino, 12% African American) of elementary school children. Interviews were transcribed and analyzed applying Social Cognitive Theory and using in-vivo coding. Main Findings The most common barriers to parents providing healthy foods to their children were accommodating child preferences and familial opposition. Parents showed intentionality to engage in healthy behaviors, and often shared procedural knowledge for reaching health goals. The analyses of desired communication channels yielded major preferences: tailored information, information provided through multiple mediums, appropriate duration/frequency of messages, and presented from a voice of authority. Conclusion and Implication While parents expressed desires to be healthy, the home food environment presented substantial challenges. Multi-media supports such as workshops, flyers, and text messaging may be useful to facilitate the sharing of information to minimize the tensions between intentionality and reaching desired goals to be healthy. Some parents thought that information received through text messaging could be easily shared and would act as a voice of authority to support child behavior change.



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Hispanic Immigrant Father Involvement with Young Children in the United States: A Comparison with US-Born Hispanic and White non-Hispanic Fathers

Abstract

Objectives Fathering is known to foster child development and health, yet evidence on Hispanic immigrant fathers' involvement with their young children is sparse. This study assessed disparities in pregnancy intendedness and father involvement with children ages 0–4 among Hispanic immigrant co-resident fathers versus two reference groups: US-born Hispanic and US-born White fathers. We hypothesized that differentials in involvement were associated with socioeconomic and cultural factors. Methods Using 2011–2013 data from the National Survey of Family Growth (N = 598), we performed bivariate, logistic and linear regression analyses to assess disparities in pregnancy intendedness and five father involvement outcomes (physical care, warmth, outings, reading and discipline). The models controlled for socio-economic, structural, health and cultural covariates. Results Pregnancy intendedness did not differ significantly between Hispanic immigrant fathers and the two reference groups. Compared with US-born Hispanics, unadjusted models showed that immigrant fathers were less likely to engage in physical care, warmth and reading, (p ≤ 0.05) though the differences were attenuated when controlling for covariates. Hispanic immigrant fathers were less likely than US-born White fathers to engage in each of the father involvement outcomes (p ≤ 0.05), with the disparity in reading to their child persisting even after controlling for all covariates. Conclusions for Practice We found marked socio-economic and cultural differences between Hispanic immigrant and US-born Hispanic and White fathers which contribute to disparities in father involvement with their young children. Hispanic immigrant status is an important determinant of involved fathering and should be taken into account when planning public health policies and programs.



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Genomics: Next regeneration sequencing for reference genomes



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Heritable contributions versus genetic architecture



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Using partitioned heritability methods to explore genetic architecture



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Molecular Characterization of Extended-Spectrum Beta Lactamase- and Carbapenemase-Producing Pseudomonas aeruginosa Strains from a Malaysian Tertiary Hospital

Microbial Drug Resistance , Vol. 0, No. 0.


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A Comparison of Genotypic and Phenotypic Methods for Analyzing the Susceptibility to Sulfamethoxazole and Trimethoprim in Edwardsiella piscicida

Microbial Drug Resistance , Vol. 0, No. 0.


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Virulence properties of uropathogenic Escherichia coli isolated from children with urinary tract infection in Korea

Abstract

Urinary tract infections (UTIs) are one of the most common types of bacterial infection in humans in various parts of the world and are caused mainly by uropathogenic Escherichia coli (UPEC). A total of 58 UPEC isolates from urine were characterized by serotyping and pulsed-field gel electrophoresis (PFGE). The majority of the UPEC strains belonged to serogroups O2 and O6. The UPEC strains were grouped under different pulsotypes and majority of them belonged to serogroups O2 and O6. Among the 14 virulence factors considered, 13 were present in various serogroups. The virulence genes fimH and sfa were present in all the isolates while none of the isolates carried lt-1. The strains exhibited 36 different virulence patterns, of which 11, referred to as UP (UPEC pattern) 1 to UP 11 were most common. Antibiotic resistance profiling of the UPEC isolates revealed that the serogroups O2 and O6 contain the highest number of resistant strains. The data from the current study depicting the distribution of UPEC strains among various serogroups and pulsotypes, and the occurrence of virulence genes and antibiotics resistance offer useful information on the epidemiological features of UPEC in Korea for the enhanced surveillance of potential emergence of UPEC.



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Inducible nitric oxide synthase inhibition by 1400W limits pain hypersensitivity in a neuropathic pain rat model

Abstract

Peripheral neuropathic pain (PNP) resulting from injury or dysfunction to a peripheral nerve, is a major health problem affecting 7–8% of the population. It is inadequately controlled by current drugs, and is characterized by pain hypersensitivity which is believed to be due to sensitization of peripheral and CNS neurons by various inflammatory mediators. Here we examined, in a rat model of PNP: a) whether reducing levels of nitric oxide (NO), with 1400 W, a highly selective inhibitor of inducible NO synthase (iNOS), would prevent/attenuate pain hypersensitivity, and b) the effects of 1400 W on plasma levels of several cytokines that are secreted post iNOS upregulation during chronic pain states. The L5-spinal nerve axotomy (SNA) model of PNP was used, and 1400 W (20 mg kg−1) administered intraperitoneally at 8 hour intervals for three days starting at 18 hours post-SNA. Changes in plasma concentrations of 12 cytokines in SNA rats treated with 1400 W were examined using multiplex ELISA. SNA rats developed behavioural signs of mechanical and heat hypersensitivity. Compared with the vehicle/control, 1400 W significantly: (a) limited development of mechanical hypersensitivity at 66 hours post-SNA, as well as heat hypersensitivity at 42 hours and at several time-points tested thereafter, and (b) increased the plasma concentrations of IL-1α, IL-1β, and IL-10 in the SNA rats. The findings suggest that 1400 W may exert its analgesic effects by reducing iNOS and altering the balance between the pro-inflammatory (IL-1β and IL-1α) and anti-inflammatory (IL-10) cytokines and that therapies targeting NO or its enzymes may be effective for the treatment of PNP.

This article is protected by copyright. All rights reserved



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Genomic Predictions and Genome-Wide Association Study of Resistance Against Piscirickettsia salmonis in Coho Salmon (Oncorhynchus kisutch) Using ddRAD Sequencing

Piscirickettsia salmonis is one of the main infectious diseases affecting coho salmon (Oncorhynchus kisutch) farming, and current treatments have been ineffective for the control of this disease. Genetic improvement for P. salmonis resistance has been proposed as a feasible alternative for the control of this infectious disease in farmed fish. Genotyping by sequencing (GBS) strategies allow genotyping of hundreds of individuals with thousands of single nucleotide polymorphisms (SNPs), which can be used to perform genome wide association studies (GWAS) and predict genetic values using genome-wide information. We used double-digest restriction-site associated DNA (ddRAD) sequencing to dissect the genetic architecture of resistance against P. salmonis in a farmed coho salmon population and to identify molecular markers associated with the trait. We also evaluated genomic selection (GS) models in order to determine the potential to accelerate the genetic improvement of this trait by means of using genome-wide molecular information. A total of 764 individuals from 33 full-sib families (17 highly resistant and 16 highly susceptible) were experimentally challenged against P. salmonis and their genotypes were assayed using ddRAD sequencing. A total of 9,389 SNPs markers were identified in the population. These markers were used to test genomic selection models and compare different GWAS methodologies for resistance measured as day of death (DD) and binary survival (BIN). Genomic selection models showed higher accuracies than the traditional pedigree-based best linear unbiased prediction (PBLUP) method, for both DD and BIN. The models showed an improvement of up to 95% and 155% respectively over PBLUP. One SNP related with B-cell development was identified as a potential functional candidate associated with resistance to P. salmonis defined as DD.



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Copyright Page



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Spanish Translated Abstracts



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Information for Authors



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Academy News – February PM&R

As the primary medical society for the specialty of PM&R, your Academy is focused on moving the specialty and you forward. Academy membership supports initiatives to assist our members with:

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Editorial Board



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Table of Contents



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Integrating plant and animal biology for the search of novel DNA damage biomarkers

Publication date: January–March 2018
Source:Mutation Research/Reviews in Mutation Research, Volume 775
Author(s): Zacharenia Nikitaki, Marcela Holá, Mattia Donà, Athanasia Pavlopoulou, Ioannis Michalopoulos, Karel J. Angelis, Alexandros G. Georgakilas, Anca Macovei, Alma Balestrazzi
Eukaryotic genome surveillance is dependent on the multiple, highly coordinated network functions of the DNA damage response (DDR). Highlighted conserved features of DDR in plants and animals represent a challenging opportunity to develop novel interdisciplinary investigations aimed at expanding the sets of DNA damage biomarkers currently available for radiation exposure monitoring (REM) in environmental and biomedical applications. In this review, common and divergent features of the most relevant DDR players in animals and plants are described, including the intriguing example of the plant and animal kingdom-specific master regulators SOG1 (suppressor of gamma response) and p53. The potential of chromatin remodelers as novel predictive biomarkers of DNA damage is considered since these highly evolutionarily conserved proteins provide a docking platform for the DNA repair machinery. The constraints of conventional REM biomarkers can be overcome using biomarkers identified with the help of the pool provided by high-throughput techniques. The complexity of radiation-responsive animal and plant transcriptomes and their usefulness as sources of novel REM biomarkers are discussed, focusing on ionizing (IR) and UV-radiation. The possible advantages resulting from the exploitation of plants as sources of novel DNA damage biomarkers for monitoring the response to radiation-mediated genotoxic stress are listed. Plants could represent an ideal system for the functional characterization of knockout mutations in DDR genes which compromise cell survival in animals. However, the pronounced differences between plant and animal cells need to be carefully considered in order to avoid any misleading interpretations. Radioresistant plant-based systems might be useful to explore the molecular bases of LD (low dose)/LDR (low dose rate) responses since nowadays it is extremely difficult to perform an accurate assessment of LD/LDR risk to human health. To overcome these constraints, researchers have started exploring radiotolerant non-human species as potential sources of information on the mechanisms involved in LD/LDR and general radiation responses.



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Mutagenesis: Interactions with a parallel universe

Publication date: Available online 3 February 2018
Source:Mutation Research/Reviews in Mutation Research
Author(s): Jeffrey H. Miller
Unexpected observations in mutagenesis research have led to a new perspective in this personal reflection based on years of studying mutagenesis. Many mutagens have been thought to operate via a single principal mechanism, with secondary effects usually resulting in only minor changes in the observed mutation frequencies and spectra. For example, we conceive of base analogs as resulting in direct mispairing as their main mechanism of mutagenesis. Recent studies now show that in fact even these simple mutagens can cause very large and unanticipated effects both in mutation frequencies and in the mutational spectra when used in certain pair-wise combinations. Here we characterize this leap in mutation frequencies as a transport to an alternate universe of mutagenesis.



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Load-sharing through elastic micro-motion accelerates bone formation and interbody fusion

Context: Achieving a successful spinal fusion requires the proper biologic and biomechanical environment. Optimizing load-sharing in the interbody space can enhance bone formation. For anterior cervical discectomy and fusion (ACDF), loading and motion are largely dictated by the stiffness of the plate which can facilitate a balance between stability and load-sharing. The advantages of load-sharing may be substantial for patients with comorbidities and in multi-level procedures where pseudarthrosis rates are significant.

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Dental pulp stem cell-derived chondrogenic cells demonstrate differential cell motility in type I and type II collagen hydrogels

Advances in the development of biomaterials and stem cell therapy provide a promising approach to regenerating degenerated discs. The normal nucleus pulposus (NP) cells exhibit the similar phenotype as chondrocytes. Because dental pulp stem cells (DPSCs) can be differentiated into chondrogenic cells, the DPSCs and DPSCs-derived chondrogenic cells encapsulated in type I and type II collagen hydrogels can potentially be transplanted into degenerated nucleus pulposus (NP) to repair damaged tissue. The motility of transplanted cells is critical because the cells need to migrate away from the hydrogels containing the cells of high density and disperse into the NP tissue after implantation.

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‘Micro endoscopic’ vs. ‘pure endoscopic’ surgery for spinal intra dural mass lesions: a comparative study and review

Endoscopy is increasingly being used for minimal invasiveness and panoramic visualization, with unclear efficacy and safety among spinal intradural lesions.

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Risk-factor analysis of adjacent segment disease requiring surgery after short lumbar fusion: the influence of rheumatoid arthritis

The influence of rheumatoid arthritis (RA) on the lumbar spine has received relatively little attention compared with cervical spine, and few studies have been conducted for adjacent segment disease (ASD) after lumbar fusion in the patients with RA.

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Risk factors for perioperative morbidity in spine surgeries of different complexities: a multivariate analysis of 1009 consecutive patients

There is a broad spectrum of complications during or after surgical procedures, with differing incidences reported in the published literature. Heterogeneity can be explained by the lack of an established evidence-based classification system for documentation and classification of complications in a standardized manner.

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Incidence and risk factors of post-operative neurological decline after complex adult spinal deformity surgery: results of the scoli-risk-1 study

Significant variability in neurologic outcomes following surgical correction for adult spinal deformity (ASD) has been reported. Risk factors for decline in neurologic motor outcomes are poorly understood.

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Posterolateral fusion (PLF) vs. transforaminal lumbar interbody fusion (TLIF) for spondylolisthesis: a systematic review and meta-analysis

Lumbar fusion is an effective and durable treatment for symptomatic lumbar spondylolisthesis, however the current literature provides insufficient evidence to recommend an optimal surgical fusion strategy.

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Lumbar Intraspinal Spindle Cell Rhabdomyosarcoma as a Rare Cause of Spinal Stenosis: A Case Report

Rhabdomyosarcoma (RMS) represents the most common sarcoma in childhood, yet is extremely rare in adults with only a handful of cases reported. Here we present a case of intraspinal spindle cell RMS in an adult who presented as a typical case of spinal stenosis. To our knowledge, this is the first reported case of lumbar intraspinal spindle cell RMS in an adult patient. Furthermore, RMS phenotypically presents more aggressively in adults compared to children.

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Development and persistence of suspected neuropathic pain after total knee arthroplasty in individuals with osteoarthritis

Despite the effectiveness of total knee arthroplasty (TKA) for osteoarthritis (OA), up to 20% will report knee pain 1-year after surgery. One possible reason is the development of neuropathic pain before or after TKA.

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What types of treatment are provided for patients with Carpal Tunnel Syndrome? A retrospective analysis of commercial insurance

Treatment of carpal tunnel syndrome (CTS) in commercially insured patients across the spectrum of provider types has rarely been described.

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An investigation into closed-loop treatment of neurological disorders based on sensing mitochondrial dysfunction

Dynamic feedback based closed-loop medical devices offer a number of advantages for treatment of heterogeneous neurological conditions. Closed-loop devices integrate a level of neurobiological feedback, which ...

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Loss of Capicua alters early T cell development and predisposes mice to T cell lymphoblastic leukemia/lymphoma [Genetics]

Capicua (CIC) regulates a transcriptional network downstream of the RAS/MAPK signaling cascade. In Drosophila, CIC is important for many developmental processes, including embryonic patterning and specification of wing veins. In humans, CIC has been implicated in neurological diseases, including spinocerebellar ataxia type 1 (SCA1) and a neurodevelopmental syndrome. Additionally, we...

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De novo mutation in RING1 with epigenetic effects on neurodevelopment [Genetics]

RING1 is an E3-ubiquitin ligase that is involved in epigenetic control of transcription during development. It is a component of the polycomb repressive complex 1, and its role in that complex is to ubiquitylate histone H2A. In a 13-year-old girl with syndromic neurodevelopmental disabilities, we identified a de novo mutation,...

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Sirt4 is a mitochondrial regulator of metabolism and lifespan in Drosophila melanogaster [Genetics]

Sirtuins are an evolutionarily conserved family of NAD+-dependent deacylases that control metabolism, stress response, genomic stability, and longevity. Here, we show the sole mitochondrial sirtuin in Drosophila melanogaster, Sirt4, regulates energy homeostasis and longevity. Sirt4 knockout flies have a short lifespan, with increased sensitivity to starvation and decreased fertility and...

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Disruption of the ciliary GTPase Arl13b suppresses Sonic hedgehog overactivation and inhibits medulloblastoma formation [Genetics]

Medulloblastoma (MB) is the most common malignant pediatric brain tumor, and overactivation of the Sonic Hedgehog (Shh) signaling pathway, which requires the primary cilium, causes 30% of MBs. Current treatments have known negative side effects or resistance mechanisms, so new treatments are necessary. Shh signaling mutations, like those that remove...

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Racial/Ethnic Inequities in Low Birth Weight and Preterm Birth: The Role of Multiple Forms of Stress

Abstract

Introduction Racial/ethnic inequities in low birth weight (LBW) and preterm birth (PTB) persist in the United States. Research has identified numerous risk factors for adverse birth outcomes; however, they do not fully explain the occurrence of, or inequalities in PTB/LBW. Stress has been proposed as one explanation for differences in LBW and PTB by race/ethnicity. Methods Using the Pregnancy Risk Assessment Monitoring System (PRAMS) data from 2012 to 2013 for 21 states and one city (n = 15,915) we used Poisson regression to estimate the association between acute, financial and relationship stressors and LBW and PTB, and to examine the contribution of these stressors individually and simultaneously to racial/ethnic differences in LBW and PTB. Results Adjusting for age and race/ethnicity, acute (p < 0.001), financial (p < 0.001) and relationship (p < 0.05) stressors were associated with increased risk of LBW, but only acute (p < 0.05) and financial (p < 0.01) stress increased risk of PTB. Across all models, non-Hispanic blacks had higher risk of LBW and PTB relative to non-Hispanic whites (IRR 1.87, 95% CI 1.55, 2.27 and IRR 1.46, 95% CI 1.18, 1.79). Accounting for the effects of stressors attenuated the risk of LBW and PTB by 17 and 22% respectively, but did not fully explain the increased likelihood of LBW and PTB among non-Hispanic blacks. Discussion Results of this study demonstrate that stress may increase the risk of LBW and PTB. While stressors may contribute to racial/ethnic differences in LBW and PTB, they do not fully explain them. Mitigating stress during pregnancy may help promote healthier birth outcomes and reduce racial/ethnic inequities in LBW and PTB.



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Editorial Board

Publication date: April 2018
Source:Journal of Environmental Radioactivity, Volumes 184–185





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Anthropogenic 137Cs on atmospheric aerosols in Bratislava and around nuclear power plants in Slovakia

Publication date: April 2018
Source:Journal of Environmental Radioactivity, Volumes 184–185
Author(s): M. Ješkovský, M. Lištjak, I. Sýkora, O. Slávik, P.P. Povinec
Nuclear power plants (NPPs) have been one of the sources of anthropogenic radionuclides in the environment. This work combines the results from monitoring stations around NPPs in Slovakia (Mochovce and Jaslovské Bohunice) and academic measurements at the Comenius University campus in Bratislava. Most of the atmospheric 137Cs in this region come from the resuspension of the Chernobyl-derived 137Cs, as well as caesium produced during nuclear weapons testing. By comparison of the obtained results at NPPs with Bratislava data, radiation impacts of the NPPs on the local environments have been estimated to be negligible.



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Tritium and radiocarbon in the western North Pacific waters: post-Fukushima situation

Publication date: April 2018
Source:Journal of Environmental Radioactivity, Volumes 184–185
Author(s): Jakub Kaizer, Michio Aoyama, Yuichiro Kumamoto, Mihály Molnár, László Palcsu, Pavel P. Povinec
Impact of the Fukushima Dai-ichi Nuclear Power Plant (FNPP1) accident on tritium (3H) and radiocarbon (14C) levels in the water column of the western North Pacific Ocean in winter 2012 is evaluated and compared with radiocesium (134,137Cs) data collected for the same region. Tritium concentrations in surface seawater, varying between 0.4 and 2.0 TU (47.2–236 Bq m−3), follow the Fukushima radiocesium trend, however, some differences in the vertical profiles were observed, namely in depths of 50–400 m. No correlation was visible in the case of 14C, whose surface Δ14C levels raised from negative values (about −40‰) in the northern part of transect, to positive values (∼68‰) near the equator. Homogenously mixed 14C levels in the subsurface layers were observed at all stations. Sixteen surface (from 30 in total) and 6 water profile (from 7) stations were affected by the Fukushima tritium. Surface and vertical profile data together with the calculated water column inventories indicate that the total amount of the FNPP1-derived tritium deposited to the western North Pacific Ocean was 0.7 ± 0.3 PBq. No clear impact of the Fukushima accident on 14C levels in the western North Pacific was observed.



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An aerosol particle containing enriched uranium encountered in the remote upper troposphere

Publication date: April 2018
Source:Journal of Environmental Radioactivity, Volumes 184–185
Author(s): D.M. Murphy, K.D. Froyd, E. Apel, D. Blake, N. Blake, N. Evangeliou, R.S. Hornbrook, J. Peischl, E. Ray, T.B. Ryerson, C. Thompson, A. Stohl
We describe a submicron aerosol particle sampled at an altitude of 7 km near the Aleutian Islands that contained a small percentage of enriched uranium oxide. 235U was 3.1 ± 0.5% of 238U. During twenty years of aircraft sampling of millions of particles in the global atmosphere, we have rarely encountered a particle with a similarly high content of 238U and never a particle with enriched 235U. The bulk of the particle consisted of material consistent with combustion of heavy fuel oil. Analysis of wind trajectories and particle dispersion model results show that the particle could have originated from a variety of areas across Asia. The source of such a particle is unclear, and the particle is described here in case it indicates a novel source where enriched uranium was dispersed.



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Validation of an advanced analytical procedure applied to the measurement of environmental radioactivity

Publication date: April 2018
Source:Journal of Environmental Radioactivity, Volumes 184–185
Author(s): Tran Thien Thanh, Le Quang Vuong, Phan Long Ho, Huynh Dinh Chuong, Vo Hoang Nguyen, Chau Van Tao
In this work, an advanced analytical procedure was applied to calculate radioactivity in spiked water samples in a close geometry gamma spectroscopy. It included MCNP-CP code in order to calculate the coincidence summing correction factor (CSF). The CSF results were validated by a deterministic method using ETNA code for both p-type HPGe detectors. It showed that a good agreement for both codes. Finally, the validity of the developed procedure was confirmed by a proficiency test to calculate the activities of various radionuclides. The results of the radioactivity measurement with both detectors using the advanced analytical procedure were received the ''Accepted'' statuses following the proficiency test.



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Xenon adsorption on geological media and implications for radionuclide signatures

Publication date: Available online 13 February 2018
Source:Journal of Environmental Radioactivity
Author(s): M.J. Paul, S.R. Biegalski, D.A. Haas, H. Jiang, H. Daigle, J.D. Lowrey
The detection of radioactive noble gases is a primary technology for verifying compliance with the pending Comprehensive Nuclear-Test-Ban Treaty. A fundamental challenge in applying this technology for detecting underground nuclear explosions is estimating the timing and magnitude of the radionuclide signatures. While the primary mechanism for transport is advective transport, either through barometric pumping or thermally driven advection, diffusive transport in the surrounding matrix also plays a secondary role. From the study of primordial noble gas signatures, it is known that xenon has a strong physical adsorption affinity in shale formations. Given the unselective nature of physical adsorption, isotherm measurements reported here show that non-trivial amounts of xenon adsorb on a variety of media, in addition to shale. A dual-porosity model is then discussed demonstrating that sorption amplifies the diffusive uptake of an adsorbing matrix from a fracture. This effect may reduce the radioxenon signature down to approximately one-tenth, similar to primordial xenon isotopic signatures.



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Vertical distribution of 137Cs in grassland soils disturbed by moles (Talpa europaea L.)

Publication date: April 2018
Source:Journal of Environmental Radioactivity, Volumes 184–185
Author(s): V. Ramzaev, A. Barkovsky
Activity of biota is one of the factors influencing vertical migration of radionuclides deposited from the atmosphere onto the ground surface. The goal of this work was to study the vertical distribution of 137Cs in grassland soils disturbed by moles (Talpa europaea L.) in comparison with undisturbed grassland soils. Field observations and soil sampling were carried out in the areas of eight settlements in the Klintsovskiy, Krasnogorskiy and Novozybkovskiy districts of the Bryansk region, Russia in six years during the period 1999–2016. The study sites had been heavily contaminated by Chernobyl fallout in 1986. Activity of 137Cs in soil samples was determined by γ-ray spectrometry. 137Cs surface ground contamination levels at the studied plots (n = 17) ranged from 327 kBq m−2 to 2360 kBq m−2 with a mean of 1000 kBq m−2 and a median of 700 kBq m−2. The position of the 137Cs migration centre in the soil in 2010–2016 was significantly (the Mann-Whitney U test, P < .01) deeper at mole-disturbed plots (median = 5.99 cm or 6.64 g cm−2, n = 6) compared to the undisturbed ones (median = 2.48 cm or 2.35 g cm−2, n = 6). The 137Cs migration rate at mole-disturbed plots (median = 0.26 g cm−2 y−1, mean = 0.31 g cm−2 y−1) was significantly higher (by a factor of 3) than at undisturbed plots (median = 0.08 g cm−2 y−1, mean = 0.10 g cm−2 y−1). The difference in the migration rates between the mole-disturbed and undisturbed plots (median = 0.18 g cm−2 y−1, mean = 0.21 g cm−2 y−1) reasonably corresponded to the mass of soil that might be ejected by moles per unit area per year. The results of this study indicate that the burrowing activity of moles has increased vertical migration of Chernobyl-derived radiocaesium in the grassland soils.

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Cross-sectional properties of the lower limb long bones in the Middle Pleistocene Sima de los Huesos sample (Sierra de Atapuerca, Spain)

Publication date: April 2018
Source:Journal of Human Evolution, Volume 117
Author(s): Laura Rodríguez, José Miguel Carretero, Rebeca García-González, Juan Luis Arsuaga
The recovery to date of three complete and five partial femora, seven complete tibiae, and four complete fibulae from the Atapuerca Sima de los Huesos site provides an opportunity to analyze the biomechanical cross-sectional properties in this Middle Pleistocene population and to compare them with those of other fossil hominins and recent modern humans.We have performed direct comparisons of the cross-sectional geometric parameters and reduced major axis (RMA) regression lines among different samples. We have determined that Atapuerca Sima de los Huesos (SH) fossils have significantly thicker cortices than those of recent modern humans for the three leg bones at all diaphyseal levels, except that of the femur at 35% of biomechanical length. The SH bones are similar to those of Neandertals and Middle Pleistocene humans and different from Homo sapiens in their diaphyseal cross-sectional shape and strength parameters.When standardized by estimated body size, both the SH and Neandertal leg bones have in general greater strength than those of H. sapiens from the early modern (EMH), Upper Paleolithic (UP), and recent populations (RH). The Sima de los Huesos human leg bones have, in general terms, an ancestral pattern similar to that of Pleistocene humans and differing from H. sapiens.



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Editorial Board

Publication date: January 2018
Source:Journal of Human Evolution, Volume 114





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Retraction notice to: The revised stratigraphy of the hominin-bearing site of Kromdraai (Gauteng, South Africa) and associated perspectives [J. Human Evol. 114 (2018) 1–19]

Publication date: January 2018
Source:Journal of Human Evolution, Volume 114
Author(s): Laurent Bruxelles, Richard Maire, Amélie Beaudet, Raymond Couzens, Francis Duranthon, Jean-Baptiste Fourvel, Dominic Stratford, Francis Thackeray, José Braga




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Listening in the bog: I. Acoustic interactions and spacing between males of Sphagniana sphagnorum

Abstract

Males of the katydid Sphagniana sphagnorum form calling aggregations in boreal sphagnum bogs to attract mates. They broadcast frequency-modulated (FM) songs in steady series, each song comprised of two wing-stroking modes that alternate audio and ultrasonic spectra. NN analysis of three populations found mean distances between 5.1 and 8.4 m, but failed to find spacing regularity: in one males spaced randomly, in another they were clumped, but within the clumps spaced at random. We tested a mechanism for maintaining inter-male distances by playback of conspecific song to resident males and analysing song interactions between neighbouring males in the field. The results indicate that the song rate is an important cue for males. Information coded in song rates is confounded by variation in bog temperatures and by the linear correlation of song rates with temperature. The ultrasonic and audio spectral modes suffer different excess attenuation: the ultrasonic mode is favoured at shorter distances (< 6 m), the audio mode at longer distances (> 6 m), supporting a hypothesized function in distance estimation. Another katydid, Conocephalus fasciatus, shares habitat with S. sphagnorum and could mask its ultrasonic mode; however, mapping of both species indicate the spacing of S. sphagnorum is unaffected by the sympatric species.



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Interrater variability in ASA physical status assignment: an analysis in the pediatric cancer setting

Abstract

Background

The American Society of Anesthesiologists (ASA) physical status is a universal classification system that helps clinicians to categorize their patients preoperatively. However, there is a lack of both inter-rater and intra-rater reliability among clinicians for the ASA physical status classification. Our study focuses on testing these reliabilities within pediatric anesthesia providers in the cancer setting.

Methods

In our retrospective observational study, a total of 1177 anesthesia records were reviewed. The cohort included all pediatric patients (≤ 18 years old) diagnosed with either retinoblastoma or neuroblastoma who had two or more anesthesia procedure within a 14-day time period.

Results

Overall, the ASA physical status score among two different anesthesia providers for the same patient treated at different times had very little inter-rater reliability, κ = − 0.042 (95% CI − 0.17; 0.09). Of the 1177-patient anesthesia records, only 25% had two or more ASA physical status score assigned by the same anesthesiologist within a 14-day time period. There was moderate intra-rater reliability κ = 0.48 (95% CI 0.29; 0.68) for patients who were assigned an ASA physical status score by the identical anesthesia provider at different times points within a 14 day period.

Conclusion

In contrast to observations in earlier studies, findings indicate poor agreement in inter-rater reliability. Although there was moderate agreement in intra-rater reliability, one would expect to find stronger, even perfect, intra-rater reliability. These findings suggest the need to develop a specific physical status classification system directed toward patients with a systemic illness such as cancer in both young and adult patients.



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Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability

ABSTRACT

Splicing-related gene mutations might affect the expression of a single gene or multiple genes and cause clinically heterogeneous diseases. With the advent of next-generation sequencing, several splicing gene mutations have been exposed, yet most major spliceosome genes have no reports of germline mutations and therefore, their effects are largely unknown. We describe the previously unreported concurrence of intellectual disability, short stature, poor speech, and minor craniofacial and hand anomalies in two female siblings with three homozygous missense variants in SNRPA (a component of the U1 small nuclear ribonucleoprotein complex) characterized by homozygosity mapping and whole exome sequencing. Combined, c.97A>G, c.98T>C, and c.100T>A, in exon 2 of SNRPA lead to p.Ile33Ala and p.Phe34Ile exchanges, which were predicted in silico to be deleterious. Although both patients exhibited some clinical features seen in other spliceosomal disorders, their complete clinical phenotype appears to be rather uncommon, a finding that may further support the notion that mutations in components of the major spliceosome do not strictly lead to the same syndromes/phenotypes.

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Three siblings with Prader–Willi syndrome caused by imprinting center microdeletions and review

Prader–Willi syndrome (PWS) is a complex genetic imprinting disorder characterized by childhood obesity, short stature, hypogonadism/hypogenitalism, hypotonia, cognitive impairment, and behavioral problems. Usually PWS occurs sporadically due to the loss of paternally expressed genes on chromosome 15 with the majority of individuals having the 15q11-q13 region deleted. Examples of familial PWS have been reported but rarely. To date 13 families have been reported with more than one child with PWS and without a 15q11-q13 deletion secondary to a chromosome 15 translocation, inversion, or uniparental maternal disomy 15. Ten of those 13 families were shown to carry microdeletions in the PWS imprinting center. The microdeletions were found to be of paternal origin in nine of the ten cases in which family studies were carried out. Using a variety of techniques, the microdeletions were identified in regions within the complex SNRPN gene locus encompassing the PWS imprinting center. Here, we report the clinical and genetic findings in three adult siblings with PWS caused by a microdeletion in the chromosome 15 imprinting center inherited from an unaffected father that controls the activity of genes in the 15q11-q13 region and summarize the 13 reported cases in the literature.



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Differences in muscle performance during fatigue may explain the differences in motoneurone excitability between acute and chronic hypoxia

Abstract

We have with great interest read the paper by Ruggiero and colleagues, which explored the effects of acclimatization to hypoxia on motoneurone excitability during fatigue (Ruggiero et al. 2017)

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Psychological stress induced cerebrovascular dysfunction: The role of metabolic syndrome and exercise

Abstract

Chronic unresolvable stress leads to the development of depression and cardiovascular disease (CVD). There is a high prevalence of depression with the metabolic syndrome (MetS), however, to what extent the MetS concurrent with psychological stress affects cerebrovascular function is unknown. We investigated the differential effect of MetS on cerebrovascular structure/function in rats (16-17-wk-old) following 8 wk of unpredictable chronic mild stress (UCMS), and whether exercise training could limit any cerebrovascular dysfunction. In healthy lean rats (LZR), UCMS decreased (28%, P < 0.05) ex-vivo middle cerebral artery (MCA) endothelium-dependent dilation (EDD), however, changes in MCA remodeling and stiffness were not evident but cerebral microvessel density decreased (MVD; 30%, P < 0.05). The presence of UCMS and MetS (OZR; obese Zucker rats) decreased MCA EDD (35%, P < 0.05), and dilation to sodium nitroprusside (20%, P < 0.05), while MCA stiffness increased, and cerebral MVD decreased (31%, P < 0.05), which were linked to a reduced nitric oxide and increased oxidative levels. Aerobic exercise prevented UCMS impairments in MCA function and MVD in LZR, and partly restored MCA function, stiffness and MVD in OZR. Our data suggests that the benefits of exercise with UCMS was due to a reduction in oxidative stress, and increased production of nitric oxide in the cerebral vessels. In conclusion, UCMS significantly impaired MCA structure and function, but the effects of UCMS were more substantial in OZR vs. LZR. Importantly, aerobic exercise when combined with UCMS prevented the MCA dysfunction through subtle shifts in nitric oxide and oxidative stress in the cerebral microvasculature.

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Executive functioning and daily living of individuals with chronic stroke: measurement and implications

Deficits in executive functioning (EF) are often still present at the chronic stage after stroke, which may negatively impact independent living. The objectives of this study were (a) to characterize the EF and independence in daily living of community-dwelling individuals with chronic stroke by using pen-and-paper and performance-based EF assessments, (b) to explore correlations between scores detected by different EF assessments and (c) to assess the correlations between EF and independence in basic activities of daily living (BADL) and instrumental activities of daily living (IADL). This cross-sectional study included 50 (30 men and 20 women) community-dwelling individuals [mean (SD) age 59.8 (9.3)] with chronic stroke. Participants were overall independent in basic activities of daily living, without significant cognitive impairment. Participants underwent EF assessment using two pen-and-paper tools: Trail Making Test, Zoo Map subtest from the Behavioral Assessment of Dysexecutive Syndrome and two performance-based tools; EF Route-Finding Task and bill-paying subtest from the Executive Functions Performance Test. BADL, IADL, depressive symptoms, gait speed and upper extremity motor impairment were also assessed. Participants demonstrated mild to moderate EF deficits with moderate significant correlations between the scores of various EF assessments. Participants varied in their independence in IADL, and EF was significantly correlated to independence in BADL and IADL (−0.31

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A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis

Tooth development is regulated by multiple genetic pathways, which ultimately drive the complex interactions between the oral epithelium and mesenchyme. Disruptions at any time point during this process may lead to failure of tooth development, also known as tooth agenesis (TA). TA is a common craniofacial abnormality in humans and represents the failure to develop one or more permanent teeth. Many genes and potentially subtle variants in these genes contribute to the TA phenotype. We report the clinical and genetic impact of a rare homozygous ANTXR1 variant (c.1312C>T), identified by whole exome sequencing (WES), in a consanguineous Turkish family with TA. Mutations in ANTXR1 have been associated with GAPO (growth retardation, alopecia, pseudoanodontia, and optic atrophy) syndrome and infantile hemangioma, however no clinical characteristics associated with these conditions were observed in our study family. We detected the expression of Antxr1 in oral and dental tissues of developing mouse embryos, further supporting a role for this gene in tooth development. Our findings implicate ANTXR1 as a candidate gene for isolated TA, suggest the involvement of specific hypomorphic alleles, and expand the previously known ANTXR1-associated phenotypes.



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Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome

SATB2-associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted to case reports and small series without in-depth phenotypic characterization or genotype-phenotype correlations. Seventy two study participants were identified as part of the SAS clinical registry. Individuals with a molecularly confirmed diagnosis of SAS were referred after clinical diagnostic testing. In this series we present the most comprehensive phenotypic and genotypic characterization of SAS to date, including prevalence of each clinical feature, neurodevelopmental milestones, and when available, patient management. We confirm that the most distinctive features are neurodevelopmental delay with invariably severely limited speech, abnormalities of the palate (cleft or high-arched), dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies. This comprehensive clinical characterization will help clinicians with the diagnosis, counseling and management of SAS and help provide families with anticipatory guidance.



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