julilili42/papers huggingface dataset:
Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene
2014-11-27

Abstract Purpose Mutations in the RLBP 1 gene encoding the cellular retinaldehyde‐binding protein ( CRALBP ) cause autosomal recessive progressive retinopathy, such as retinitis punctata albescens ( RPA ), Bothnia‐type dystrophy ( BD ), Newfoundland rod‐cone dystrophy ( NFRCD ), retinitis pigmentosa ( RP ) and fundus albipunctatus ( FA ). We present the clinical heterogeneity and genetic findings of seven patients from five families with RLBP 1 mutations, including three novel mutations. Methods Seven patients underwent complete ophthalmological examination including psychophysical tests (visual acuity, colour vision, visual field, dark adaptation) and electrophysiology (Ganzfeld and multifocal ERG ). Additionally, fundus photography, autofluorescence ( FAF ) and spectral domain optical coherence tomography ( OCT ) recordings were performed. Genomic DNA was analysed by high‐throughput sequencing for all RP ‐related genes in a diagnostic set‐up. Results The patients presented with variable phenotypes, including RPA , BD , RP and a mild form of NFRCD . No detectable or severely depressed responses in electrophysiological examinations were seen in all cases. Visual field constriction was variable among individuals. Severely reduced visual acuity was only observed in the patient presenting with BD . The other patients retained mild to moderate reduction of visual function. Despite the morphological differences, central retinal thinning – as a common feature – could be observed. Conclusions The fact that different mutations in RLBP 1 are correlated with quite different morphological and functional characteristics outlines the complexity of the protein. Identifying new mutations and comparing the different phenotypes may help to better understand the function of the protein and the consequences in pathological changes that involve RPE and choroid.
H.E.S.S. detection of TeV emission from the interaction region between the supernova remnant G349.7+0.2 and a molecular cloud
2014-11-27

G349.7+0.2 is a young Galactic supernova remnant (SNR) located at the distance of 11.5 kpc and observed across the entire electromagnetic spectrum from radio to high energy (HE; 0.1 GeV &lt;E&lt; 100 GeV) γ-rays. Radio and infrared observations indicate that the remnant is interacting with a molecular cloud. In this paper, the detection of very high energy (VHE, E&gt; 100 GeV) γ-ray emission coincident with this SNR with the High Energy Stereoscopic System (H.E.S.S.) is reported. This makes it one of the farthest Galactic SNR ever detected in this domain. An integral flux F(E&gt; 400 GeV) = (6.5 ± 1.1stat ± 1.3syst) × 10−13 ph cm−2 s−1 corresponding to ~0.7% of that of the Crab Nebula and to a luminosity of ~1034 erg s−1 above the same energy threshold, and a steep photon index ΓVHE = 2.8 ± 0.27stat ± 0.20syst are measured. The analysis of more than 5 yr of Fermi-LAT data towards this source shows a power-law like spectrum with a best-fit photon index ΓHE = 2.2 ± 0.04stat+0.13−0.31 sys. The combined γ-ray spectrum of G349.7+0.2 can be described by either a broken power-law (BPL) or a power-law with exponential (or sub-exponential) cutoff (PLC). In the former case, the photon break energy is found at Ebr,γ = 55+70−30 GeV, slightly higher than what is usually observed in the HE/VHE γ-ray emitting middle-aged SNRs known to be interacting with molecular clouds. In the latter case, the exponential (respectively sub-exponential) cutoff energy is measured at Ecut,γ = 1.4+1.6−0.55 (respectively 0.35+0.75−0.21) TeV. A pion-decay process resulting from the interaction of the accelerated protons and nuclei with the dense surrounding medium is clearly the preferred scenario to explain the γ-ray emission. The BPL with a spectral steepening of 0.5−1 and the PLC provide equally good fits to the data. The product of the average gas density and the total energy content of accelerated protons and nuclei amounts to nHWp ~ 5 × 1051 erg cm−3
{Sn10[Si(SiMe3)3]4}2−: A Highly Reactive Metalloid Tin Cluster with an Open Ligand Shell
2014-11-27

Abstract The reaction of a Sn I Cl solution with LiSi(SiMe 3 ) 3 gave the anionic metalloid tin cluster {Sn 10 [Si(SiMe 3 ) 3 ] 4 } 2− ( 7 ) in good yield. The arrangement of the ten tin atoms in the cluster core can be described as a distorted centaur polyhedron. Quantum chemical calculations suggest that there are 26 bonding electrons in the cluster core, which may be described as an arachno cluster in agreement with Wade’s rules. NMR and mass spectrometric investigations showed that 7 is highly reactive, which may be due to the open ligand shell. The easily available tin atoms in 7 thereby open the door to further subsequent reactions, in which 7 may act as a building block to larger cluster aggregates.
11C-methionine PET/CT after in conclusive 99mTc-MIBI-SPECT/CT for localisation of parathyroid adenomas in primary hyperparathyroidism
2014-11-27

Summary Aim: To investigate the efficacy of PET/CT with 11C-methionine for localizing parathyroid adenomas in patients with suspected primary hyperparathyroidism and inconclusive results of cervical ultrasonography and 99mTc-MIBI-SPECT/CT. Patients, method: Retrospective analysis of imaging data of 18 patients and correlation with clinical outcome, in particular intraoperative findings and histopathology of excised tissue. Results: 12 of 18 patients received surgery. In 10 patients single parathyroid adenomas were found (diameter: 5–20 mm), 2 patients presented parathyroid hyperplasia (5 excised hyperplastic glands (diameter: 2–12 mm). PET/ CT correctly localized all adenomas and 1 of 5 hyperplastic glands. The sensitivity per patient was 91.7% (11 of 12), the sensitivity per lesion 73.3% (11 of 15). All lesions missed by PET/CT had a size smaller than 9 mm and a volume of less than 0.2 ml. In 6 patients no surgery was performed. Five of them had a negative or atypical PET/CT. Further follow-up indicated familial hypocalciuric hypercalcemia in 3 of them (thus, PET/CT true negative), in the remaining 2 patients no validation is available. One patient with 2 highly suggestive lesions rejected surgery so far. Conclusion: PET/CT with 11C-methionine is a very sensitive method for the detection of parathyroid adenomas, even if they are too small to be visualized by 99mTc-MIBI-SPECT/CT.
Fast mental states decoding in mixed reality
2014-11-27

The combination of Brain-Computer Interface (BCI) technology, allowing online monitoring and decoding of brain activity, with virtual and mixed reality (MR) systems may help to shape and guide implicit and explicit learning using ecological scenarios. Real-time information of ongoing brain states acquired through BCI might be exploited for controlling data presentation in virtual environments. Brain states discrimination during mixed reality experience is thus critical for adapting specific data features to contingent brain activity. In this study we recorded electroencephalographic (EEG) data while participants experienced MR scenarios implemented through the eXperience Induction Machine (XIM). The XIM is a novel framework modeling the integration of a sensing system that evaluates and measures physiological and psychological states with a number of actuators and effectors that coherently reacts to the user's actions. We then assessed continuous EEG-based discrimination of spatial navigation, reading and calculation performed in MR, using linear discriminant analysis (LDA) and support vector machine (SVM) classifiers. Dynamic single trial classification showed high accuracy of LDA and SVM classifiers in detecting multiple brain states as well as in differentiating between high and low mental workload, using a 5 s time-window shifting every 200 ms. Our results indicate overall better performance of LDA with respect to SVM and suggest applicability of our approach in a BCI-controlled MR scenario. Ultimately, successful prediction of brain states might be used to drive adaptation of data representation in order to boost information processing in MR.
Very low-luminosity Class I/flat outflow sources in σ Orionis
2014-11-28

We present an optical through sub-millimetre multi-wavelength study of two\\nvery low-luminosity Class I/Flat systems, Mayrit 1701117 and Mayrit 1082188, in\\nthe sigma Orionis cluster. We performed moderate resolution (R ~ 1000) optical\\n(~0.4-0.9mu) spectroscopy with the TWIN spectrograph at the Calar Alto 3.5-m\\ntelescope. The spectra for both sources show prominent emission in accretion-\\nand outflow-associated lines. The mean accretion rate measured from multiple\\nline diagnostics is 6.4x10^{-10} Msun/yr for Mayrit 1701117, and 2.5x10^{-10}\\nMsun/yr for Mayrit 1082188. The outflow mass loss rates for the two systems are\\nsimilar and estimated to be ~1x10^{-9} Msun/yr. The activity rates are within\\nthe range observed for low-mass Class I protostars. We obtained sub-millimetre\\ncontinuum observations with the Submillimetre Common-User Bolometer Array\\n(SCUBA-2) bolometer at the James Clerk Maxwell Telescope. Both objects are\\ndetected at a &gt;5-sigma level in the SCUBA-2 850mu band. The bolometric\\nluminosity of the targets as measured from the observed spectral energy\\ndistribution over ~0.8-850mu is 0.18+/-0.04 Lsun for Mayrit 1701117, and\\n0.16+/-0.03 Lsun for Mayrit 1082188, and is in the very low-mass range. The\\ntotal dust+gas mass derived from sub-millimetre fluxes is ~36 M_Jup and ~22\\nM_Jup for Mayrit 1701117 and Mayrit 1082188, respectively. There is the\\npossibility that some of the envelope material might be dissipated by the\\nstrong outflows driven by these sources, resulting in a final mass of the\\nsystem close to or below the sub-stellar limit.\\n
Hyperactivity and Motoric Activity in ADHD: Characterization, Assessment, and Intervention
2014-11-28

The aim of the present literature review is threefold. (1) We will review theories, models, and studies on symptomatic hyperactivity and motoric activity in attention-deficit/hyperactivity disorder (ADHD). (2) Another focus will be on assessment methods that have been proven to be effective in the detection of hyperactivity and motoric activity in children, adolescents, and adults with and without ADHD and emerging areas of research in the field of ADHD. We will compare subjective methods (i.e., rating scales) and objective methods (i.e., accelerometers). (3) Finally, physical activity intervention studies aiming at a modification of activity and overactive behavior will be summarized that seem to be promising candidates for alleviating hyperactivity symptoms in children, adolescents, and adults with ADHD.
Secretome analysis revealed adaptive and non‐adaptive responses of the Staphylococcus carnosus femB mutant
2014-11-28

FemABX peptidyl transferases are involved in non‐ribosomal pentaglycine interpeptide bridge biosynthesis. Here, we characterized the phenotype of a Staphylococcus carnosus femB deletion mutant, which was affected in growth and showed pleiotropic effects such as enhanced methicillin sensitivity, lysostaphin resistance, cell clustering, and decreased peptidoglycan cross‐linking. However, comparative secretome analysis revealed a most striking difference in the massive secretion or release of proteins into the culture supernatant in the femB mutant than the wild type. The secreted proteins can be categorized into typical cytosolic proteins and various murein hydrolases. As the transcription of the murein hydrolase genes was up‐regulated in the mutant, they most likely represent an adaption response to the life threatening mutation. Even though the transcription of the cytosolic protein genes was unaltered, their high abundance in the supernatant of the mutant is most likely due to membrane leakage triggered by the weakened murein sacculus and enhanced autolysins.
Semi‐automated kinetic perimetry provides additional information to static automated perimetry in the assessment of the remaining visual field in end‐stage glaucoma
2014-11-28

Abstract Purpose To test the hypothesis whether semi‐automated kinetic perimetry ( SKP ) provides additional information to static automated perimetry ( SAP ) in the assessment of the remaining visual field in end‐stage glaucoma, as defined by disc appearance (cup‐to‐disc ratio worse than 0.9) and SAP criteria ( MD worse than 20 dB). Methods Fifty eyes of 44 patients presenting with end‐stage glaucoma were examined first with SAP within the central 30° using stimulus size III , followed by SKP within 90° using test targets III 4e and V 4e. Results Overall, SKP provided additional information over SAP in more than half (54%) of the cases. In 16 instances (32%), SKP revealed visual field island beyond 30° that was undetected by SAP . In eight cases (16%), SKP showed both a central island and peripheral island of visual field. In three cases (6%) altitudinal scotomatous loss was found using SKP , but not in SAP. In 23 cases (46%) the central visual field island was defined both with SAP and SKP . The mean examination duration was 4 min for SAP and 9 min for SKP . Conclusions In clinical practice, SKP with III 4e and V 4e test targets provides more information than 30° SAP regarding the remaining peripheral VF in patients with end‐stage glaucoma; however, a longer test time is required for SKP .
The neural correlates of emotion processing in juvenile offenders
2014-11-29

Abstract Individuals with severe antisocial behaviour often demonstrate abnormalities or difficulties in emotion processing. Antisocial behaviour typically onsets before adulthood and is reflected in antisocial individuals at the biological level. We therefore conducted a brain‐based study of emotion processing in juvenile offenders. Male adolescent offenders and age‐matched non‐offenders passively viewed emotional images whilst their brain activity was recorded using electroencephalography. The early posterior negativity ( EPN ) and the late positive potential ( LPP ) components were used as indices of emotion processing. For both juvenile offenders and non‐offenders, the EPN differentiated unpleasant images from other image types, suggesting that early perceptual processing was not impaired in the offender group. In line with normal emotion processing, the LPP was significantly enhanced following unpleasant images for non‐offenders. However, for juvenile offenders, the LPP did not differ across image categories, indicative of deficient emotional processing. The findings indicated that this brain‐based hypo‐reactivity occurred during a late stage of cognitive processing and was not a consequence of atypical early visual attention or perception. This study is the first to show attenuated emotion processing in juvenile offenders at the neural level. Overall, these results have the potential to inform interventions for juvenile offending.
GBA‐associated Parkinson's disease: Reduced survival and more rapid progression in a prospective longitudinal study
2014-12-01

Abstract Background Parkinson's disease (PD) patients with GBA mutations show an earlier age at onset and more severe non‐motor symptoms compared with PD patients without GBA mutations. Objective This study was undertaken to evaluate progression of motor and non‐motor symptoms in sporadic PD patients depending on the mutational GBA status. Methods We used regression analysis to evaluate independent effects of the mutational GBA status, age at onset, age at examination, and disease duration on motor (Unified Parkinson's Disease Rating Scale [UPDRS]‐III, Hoehn and Yahr [H&amp;Y] stage, Levodopa [ l ‐dopa]‐equivalent‐dosage) and non‐motor characteristics (cognition and mood). Disease progression was assessed prospectively over 3 years. Results The GBA ‐associated PD patients compared with non‐mutation PD patients, although younger and with an earlier age at onset, show (1) a more rapid disease progression of motor impairment and cognitive decline and (2) reduced survival rates. Conclusions The mutational GBA status, rather than older age and age at onset, presents an important predictor for disease progression in this specific subgroup of PD patients. © 2014 International Parkinson and Movement Disorder Society
HPV16 DNA status is a strong prognosticator of loco-regional control after postoperative radiochemotherapy of locally advanced oropharyngeal carcinoma: Results from a multicentre explorative study of the German Cancer Consortium Radiation Oncology Group (DKTK-ROG)
2014-12-01

HPV16 DNA status appears to be a strong prognosticator of loco-regional tumour control after postoperative cisplatin-based radiochemotherapy of locally advanced oropharyngeal carcinoma and is now being explored in a prospective validation trial.
The Faces in Radiological Images: Fusiform Face Area Supports Radiological Expertise
2014-12-01

The fusiform face area (FFA) has often been used as an example of a brain module that was developed through evolution to serve a specific purpose-face processing. Many believe, however, that FFA is responsible for holistic processing associated with any kind of expertise. The expertise view has been tested with various stimuli, with mixed results. One of the main stumbling blocks in the FFA controversy has been the fact that the stimuli used have been similar to faces. Here, we circumvent the problem by using radiological images, X-rays, which bear no resemblance to faces. We demonstrate that FFA can distinguish between X-rays and other stimuli by employing multivariate pattern analysis. The sensitivity to X-rays was significantly better in experienced radiologists than that in medical students with limited radiological experience. For the radiologists, it was also possible to use the patterns of FFA activations obtained on faces to differentiate X-ray stimuli from other stimuli. The overlap in the FFA activation is not based on visual similarity of faces and X-rays but rather on the processes necessary for expertise with both kinds of stimulus. Our results support the expertise view that FFA's main function is related to holistic processing.
Heparin-Bonded Stent-Graft for the Treatment of TASC II C and D Femoropopliteal Lesions: The Viabahn-25 cm Trial
2014-12-01

Purpose: To confirm the performance and safety of the 25-cm Viabahn endoprosthesis with Propaten bioactive surface when used in the treatment of de novo and/or restenotic TransAtlantic Inter-Society Consensus II C and D lesions of the superficial femoral artery and proximal popliteal artery. Methods: The 25-cm Gore Viabahn Endoprosthesis study (ClinicalTrials.gov identifier NCT01263665) is a prospective, multicenter, single-arm study that enrolled 71 patients (50 men; mean age 66.7 ± 8.34 years) with lifestyle-limiting claudication (Rutherford class 2 to 4) and lesions longer than 20 cm (mean length 26.5 ± 5.31 cm, range 20-40). The majority of lesions (92.9%) were total occlusions. The primary performance outcome was post-deployment stent length within ± 10% of the pre-deployment stent length determined angiographically by quantitative vascular analysis. The primary safety outcome was device- and procedure-related serious adverse events occurring within 30 days of the procedure. The patients underwent follow-up examinations at 1 month and 1 year. Results : The median follow-up was 12.3 months (mean 12.3 ± 0.6). Nine (12.7%) patients discontinued the study due to different reasons including 2 bypass surgeries. Angiography was available in 60 patients to determine the primary performance outcome, which was met in all cases. Two (2.8%) patients experienced a procedure-/device-related adverse event (dissection) during the 30-day follow-up. Kaplan-Meier estimates for 1-year primary and secondary patency were 67.0% [95% confidence interval (CI) 53.5% to 77.3%] and 96.9% (95% CI 88.0% to 99.2%), respectively. Changes in ankle-brachial index and Rutherford category at 1 and 12 months each showed sustained improvement. Conclusion : This study confirms that the 25-cm Viabahn endoprosthesis acutely performs as intended and is safe when used as indicated in complex femoropopliteal lesions. One-year primary and secondary patency rates are satisfying and comparable to historical prosthetic bypass graft outcomes.
Levelized Product Cost: Concept and Decision Relevance
2014-12-01

ABSTRACT We examine a life-cycle cost concept that applies to both manufacturing and service industries in which upfront capacity investments are essential. Borrowing from the energy literature, we refer to this cost measure as the Levelized Product Cost (LC). Per unit of output, the levelized cost aggregates a share of the initial capacity investment with periodic fixed and variable operating costs. We relate this cost measure to the notion of full cost, as commonly calculated in managerial accounting texts. Our analysis identifies conditions under which the LC can be interpreted as the long-run marginal product cost. In particular, the LC is the relevant unit cost that firms should impute for investments in productive capacity.
The immune response after fracture trauma is different in old compared to young patients
2014-12-01

In summary, our data suggest that the posttraumatic immune response is differently regulated in old and young trauma patients. The operative procedure further impacts these differences after trauma. Whether the decreased activation of PMNs and phagocytes along with the observed dysregulation of the posttraumatic inflammatory response contributes to the high perioperative mortality rate of the elderly suffering from a proximal femoral fracture requires further investigation.
Encoding of point of view during action observation in the local field potentials of macaque area F5
2014-12-01

Abstract The discovery of mirror neurons compellingly shows that the monkey premotor area F5 is active not only during the execution but also during the observation of goal‐directed motor acts. Previous studies have addressed the functioning of the mirror‐neuron system at the single‐unit level. Here, we tackled this research question at the network level by analysing local field potentials in area F5 while the monkey was presented with goal‐directed actions executed by a human or monkey actor and observed either from a first‐person or third‐person perspective. Our analysis showed that rhythmic responses are not only present in area F5 during action observation, but are also modulated by the point of view. Observing an action from a subjective point of view produced significantly higher power in the low‐frequency band (2–10 Hz) than observing the same action from a frontal view. Interestingly, an increase in power in the 2–10 Hz band was also produced by the execution of goal‐directed motor acts. Independently of the point of view, action observation also produced a significant decrease in power in the 15–40 Hz band and an increase in the 60–100 Hz band. These results suggest that, depending on the point of view, action observation might activate different processes in area F5. Furthermore, they may provide information about the functional architecture of action perception in primates.
Clinical and treatment-related risk factors for nosocomial colonisation with extensively drug-resistant Pseudomonas aeruginosa in a haematological patient population: a matched case control study
2014-12-01

Unnecessary use of antibiotics, particularly ciprofloxacin should be avoided, and a high standard of infection control measures must be achieved when using medical devices. A CRS can be used for adaptation of the active screening culture policy to the local setting.