Miracle-dz/UniFAR-FTUs huggingface dataset:
Cohen syndrome in the Ohio Amish

We describe eight members from two large Amish kindreds who share a phenotype characterized by early‐onset pigmentary retinopathy and myopia, global developmental delay and mental retardation, microcephaly, short stature, hypotonia, joint hyperextensibility, small hands and feet, common facial appearance, and friendly disposition. Several of the children had intermittent granulocytopenia. The phenotypic occurrence in three siblings coupled with the increased coefficient of inbreeding in the Amish suggested that this disorder is autosomal recessive and due to a single founder allele. Despite similarity to the clinical features of Cohen syndrome, experienced dysmorphologists attending the 23rd David W. Smith Workshop suggested the facial gestalt of the Amish children was inconsistent with this diagnosis. We mapped the locus responsible for these individuals' phenotype to chromosome 8q22‐q23, which contains the recently discovered Cohen syndrome gene, COH1. Complete sequencing of the COH1 gene identified a likely disease‐causing frameshift mutation and a missense mutation in the Amish patients. A comparison of features among different Cohen syndrome populations with shared linkage to the COH1 locus or known COH1 gene mutations may allow for the determination of improved clinical criteria on which to suspect the diagnosis of Cohen syndrome. We conclude that facial gestalt seems to be an unreliable indicator of Cohen syndrome between ethnic populations, although it is quite consistent among affected individuals within a particular ethnic group. Other features common to almost all individuals with proven COH1 mutations, such as retinal dystrophy, myopia, microcephaly, mental retardation, global developmental delay, hypotonia, and joint hyperextensibility appear to be better clinical indicators of this disorder. © 2004 Wiley‐Liss, Inc.
Determination of bile acid conversion potencies of intestinal bacteria by screening in vitro and subsequent establishment in germfree rats.

More than 100 facultatively and strictly anaerobic strains from 22 genera isolated from the digestive tract of the rat were tested for the ability to split glycine and taurine conjugates and to transform cholic acid. Strains belonging to 14 of these genera, of which 12 were strictly anaerobic, were capable of splitting conjugates; whereas strains from only 7 genera were capable of transforming cholic acid. None of the strains isolated could 7a-dehydroxylate cholic acid. Twenty strains from 9 genera capable of splitting conjugates in vitro were established as monocontaminats in ex-germfree rats. Of these, three strains from the genera Clostridium, Eubacterium and Streptococcus (strictly anaerobic species) gave approximately 80 per cent splitting of the caecal bile acids. Four strains showed no conversion of caecal bile acids, while the remainder showed splitting varying between 4 and 44 per cent of the caecal bile acids. Therie was no correlation between the viable numbers of bacteria in the caecum and the extent of splitting of caecal bile acids. Deconjugation in vitro cannot be used as a criterion for the potential deconjugation of microorganisms growing in the digestive tract.
Working Paper: A Revanchist Russia versus an Uncertain West: An Appreciation of the Situation since the 2014 Ukrainian Crisis

Despite its frequent use in policy discussions on future agricultural production, both the concept of the yield gap and its determinants are understood differently by economists and agronomists. This study provides a micro-level framework that disentangles and integrates agronomic and economic approaches to yield gap measurement. It decomposes the conventional yield gap indicator into four components that together provide a better understanding of why actual farm yield falls below potential: (1) the technical efficiency yield gap, (2) the economic yield gap, (3) the feasible yield gap and (4) the technology yield gap. The results can be used to inform targeted policy and farming recommendations at plot, farm household, local and national level. The framework is operationalised and tested by combining results from crop models with detailed farm and plot level survey data for maize production in Tanzania.
Modulation of dopamine and noradrenaline release and of intracellular Ca2+ concentration by presynaptic glutamate receptors in hippocampus

1 We studied the release of [3H]‐dopamine and [3H]‐noradrenaline (NA) from hippocampal synap‐tosomes induced by glutamate receptors and the associated Ca2+ influx through Ca2+ channels. The release of tritiated neurotransmitters was studied by use of superfusion system and the intracellular free Ca2+ concentration ([Ca2+]i) was determined by a fluorimetric assay with Indo‐1 as a probe for Ca2+. 2 Presynaptic glutamate receptor activation induced Ca2+‐dependent release of [3H]‐dopamine and [3H]‐NA from rat hippocampal synaptosomes. Thus, L‐glutamate induced the release of both neurotransmitters in a dose‐dependent manner (EC50 = 5.62 μm), and the effect of 100 μm L‐glutamate was inhibited by 83.8% in the presence of 10 μm 6‐cyano‐7‐nitroquinoxaline‐2,3‐dioxine (CNQX), but was not affected by 1 μm (+)‐5‐methyl‐10,11‐dihydro‐5H‐dibenzo[a,d]‐cyclohepten‐5,10‐imine (MK‐801). 3 Other glutamate receptor agonists also stimulated the Ca2+‐dependent release of [3H]‐dopamine and [3H]‐NA as follows: N‐methyl‐D‐aspartate (NMDA), at 200 μm, released 3.65 ± 0.23% of the total 3H catecholamines, and this effect was inhibited by 81.2% in the presence of 1 μm MK‐801; quisqualate (50 μm), S‐α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolopropionic acid (AMPA) (100 μm) or kainate (100 μm) released 1.57 ± 0.26%, 1.93 ± 0.17% and 2.09 ± 0.22%, of the total 3H catecholamines, respectively. 4 The ionotropic glutamate receptor agonist, AMPA, induced an increase in the [Ca2+]i which was inhibited by 58.6% in the presence of 10 μm CNQX. In contrast, the increase in [Ca2+]i due to stimulation by glutamate was not sensitive to CNQX or MK–801. 5 Nitrendipine, at 1 μm, did not inhibit the neurotransmitter release induced by AMPA, but, both 0.5 μm ω‐conotoxin GVIA (μ‐CgTx) and 100 nm μ‐Aga IVA reduced catecholamine release to 49.03 ± 3.79% and 46.06 ± 10.51% of the control, respectively. In the presence of both toxins the release was reduced to 12.58 ± 4.64% of the control. 6 The results indicate that activation of presynaptic glutamate receptors of the NMDA and non‐NMDA type induces the release of [3H]‐dopamine and [3H]‐NA from rat hippocampal synaptosomes and that the release induced by AMPA involves the activation of N‐ and P‐type Ca2+ channels which allow the influx of Ca2+ that triggers the 3H catecholamines release.
Aged-related changes in brain activity classification with respect to age by means of graph indexes

Recent studies have investigated changes in the human brain network organization during the normal aging. A reduction of the connectivity between brain areas was demonstrated by combining neuroimaging technologies and graph theory. Clustering, characteristic path length and small-worldness are key topological measures and they are widely used in literature. In this paper we propose a new methodology that combine advanced techniques of effective connectivity estimation, graph theoretical approach and classification by SVM method. EEG signals recording during rest condition from 20 young subjects and 20 mid-aged adults were studied. Partial Directed Coherence was computed by means of General Linear Kalman Filter and graph indexes were extracted from estimated patterns. At last small-worldness was used as feature for the SVM classifier. Results show that topological differences of brain networks exist between young and mid-aged adults: small-worldness is significantly different between the two populations and it can be used to classify the subjects with respect to age with an accuracy of 69%.
Coalition formation game toward green mobile terminals in heterogeneous wireless networks

Multi-standard mobile terminals (MTs) are the trend of current and future mobile devices for taking advantage of heterogeneous integration of wireless access networks and providing ubiquitous connectivity and better quality of service. Holding multiple active interfaces, however, incurs significant power consumption burdens to MTs. This not only increases the carbon footprint of MTs but also makes the batteries of MTs deplete rapidly. Consequently, mobile users may have to relentlessly look for power outlets to charge their devices, which may threaten their true mobility freedom. To this end, in this article, we propose a promising approach based on coalition formation game and inter-terminal cooperation. Our innovative approach motivates MTs to cooperate, while addressing the issue of isolating selfish players. MTs assess radio channels and disseminate the acquired information as well as their available resources to sketch a global view of the radio environment. Based on this view, coalitions are formed whenever energy saving is foreseeable. Within a coalition, MTs pool their resources and perform their tasks cooperatively to maximize their energy efficiency. Simulation results validate that the proposed approach can effectively double the battery lifetimes of MTs, while successfully eliminating selfish players from cooperative groups.
Impaired Antigen Specific Responses and Enhanced Polyclonal Stimulation in Mice Infected with Ehrlichia muris

The immune status of BALB/c mice infected by intraperitoneal inoculation with Ehrlichia muris was examined. The level of E. muris infection in both peritoneal cavity and spleen was greatest at day 10 postinoculation (PI). Thereafter, the infection level was dramatically reduced while the organism persisted for up to 400 days PI. The greatest intraperitoneal infiltration of leukocytes, splenomegaly, and leukocytosis were observed on days 10, 15, and 20 PI, respectively. Infected mice developed marked hypergammaglobulinemia of IgG and IgM that peaked at day 20 PI; however, IgA plummeted at day 15 PI. Of IgG, G2a and G3 increased while G1 and G2b remained constant. Despite hypergammaglobulinemia, both IgG and IgM antibody titers against E. muris were very low throughout the 30‐day study. Antibody development and plaque‐forming cells against sheep red blood cells (SRBC) were abolished when the antigen was inoculated on day 10 PI. IgM antibody development against SRBC was more severely inhibited than IgG antibody development. However, when mice were immunized with SRBC prior to E. muris infection, antibody development against SRBC was not reduced. Delayed type hypersensitivity reaction to dinitrofluorobenzene was also maximally inhibited when the antigen was administered on day 10 PI. The IFN‐γ level in the blood was maximal at day 10 PI. These results indicate that although the vigorous polyclonal activation and protective IFN‐γ responses occurred by day 10 PI—which cleared most of the ehrlichial infection—antigen‐specific immune stimulation was impaired primarily at the level of antigen‐priming at peak parasitemia.
Differences in blood pressure and vascular responses associated with ambient fine particulate matter exposures measured at the personal versus community level

Background Higher ambient fine particulate matter (PM2.5) levels can be associated with increased blood pressure and vascular dysfunction. Objectives To determine the differential effects on blood pressure and vascular function of daily changes in community ambient- versus personal-level PM2.5 measurements. Methods Cardiovascular outcomes included vascular tone and function and blood pressure measured in 65 non-smoking subjects. PM2.5 exposure metrics included 24 h integrated personal- (by vest monitors) and community-based ambient levels measured for up to 5 consecutive days (357 observations). Associations between community- and personal-level PM2.5 exposures with alterations in cardiovascular outcomes were assessed by linear mixed models. Results Mean daily personal and community measures of PM2.5 were 21.9±24.8 and 15.4±7.5 μg/m3, respectively. Community PM2.5 levels were not associated with cardiovascular outcomes. However, a 10 μg/m3 increase in total personal-level PM2.5 exposure (TPE) was associated with systolic blood pressure elevation (+1.41 mm Hg; lag day 1, p<0.001) and trends towards vasoconstriction in subsets of individuals (0.08 mm; lag day 2 among subjects with low secondhand smoke exposure, p=0.07). TPE and secondhand smoke were associated with elevated systolic blood pressure on lag day 1. Flow-mediated dilatation was not associated with any exposure. Conclusions Exposure to higher personal-level PM2.5 during routine daily activity measured with low-bias and minimally-confounded personal monitors was associated with modest increases in systolic blood pressure and trends towards arterial vasoconstriction. Comparable elevations in community PM2.5 levels were not related to these outcomes, suggesting that specific components within personal and background ambient PM2.5 may elicit differing cardiovascular responses.
Source memory for the color of pictures: event-related brain potentials (ERPs) reveal sensory-specific retrieval-related activity.

Remembering the context (i.e., source) in which an event occurred reveals episodic memory effects (EM) in the event-related brain potentials (ERP). In some verbal source memory experiments, a late prefrontal EM effect has been observed. In a different, pictorial source memory paradigm, a late, parieto-occipital EM effect was recorded. To assess whether these two EM effects stemmed from differences in task paradigms or from source-attribute differences, ERPs were recorded during source memory retrieval for object colors in two tasks. In the sequential task, old/new judgments were followed by source judgments (i.e., color). In the exclusion task, source memory judgments coincided with recognition judgments. For both tasks, late, parietao-occipital EM effects were observed. These findings suggest that it is not the nature of the task, but rather the perceptual characteristics of the source that lead to the presence of the parieto-occipital EM effect. The data further imply that memories for perceptual attributes such as color are stored in and retrieved from sensory-specific cortical areas.
The majority of myeloid‐antigen‐positive (My+) childhood B‐cell precursor acute lymphoblastic leukaemias express TEL‐AML1 fusion transcripts

The t(12;21) translocation fuses the TEL and AML1 genes and has been found in up to 28% of paediatric B‐cell precursor acute lymphoblastic leukaemias (BCP‐ALL). The AML1 gene is a transcription factor which regulates expression of several myeloid differentiation associated genes. A molecular analysis of TEL‐AML1, E2A‐PBX1, MLL‐AF4, BCR‐ABL expression and an immunophenotypic study of CD13/CD33 myeloid antigen expression have been performed prospectively on tumour cells from 96 paediatric BCP‐ALL patients. Percentages of CD13 or CD33 expressing leukaemic cells were found to be higher in TEL‐AML1 positive cases (n = 22) than in TEL‐AML1 negative (n = 74) cases (P < 0.001). In 22/96 cases (23%) >10% of neoplastic cells were found to express at least one of the two markers. In 14 of these cases (63%), TEL‐AML1 expression was detected, whereas t(4;11), t(11;19) and t(9;22) translocations were found by molecular methods in only three cases (14%). In four cases (18%) no molecular marker was found. These data show that TEL‐AML1 expression is significantly associated with myeloid antigen expression by leukaemic cells and suggests that the prognostic significance of myeloid antigen expression in paediatric ALLs should be re‐evaluated in the light of molecular cytogenetic markers.
Threat of unemployment and cardiovascular risk factors: longitudinal study of quality of sleep and serum cholesterol concentrations in men threatened with redundancy.

OBJECTIVE--To assess whether the threat of unemployment affects risk factors for cardiovascular disease. DESIGN--Longitudinal study of a cohort of middle aged shipyard workers followed up for a mean of 6.2 (SD 1.9) years and a group of controls observed for the same period. The first investigation took place during a period of relative economic stability for the shipyard and the second during the phase of its closure. SETTING--An age cohort health screening programme in Malmö, Sweden. PARTICIPANTS--715 Male shipyard workers and 261 age matched male controls. MAIN OUTCOME MEASURES--Changes in 19 variables related to the risk of cardiovascular disease, and psychological variables, alcohol consumption, smoking, and dietary habits as assessed by questionnaire. RESULTS--Serum cholesterol concentrations increased more (mean 0.25 (SD 0.68) mmol/l v 0.08 (0.66) mmol/l) and serum calcium concentrations decreased less (-0.06 (0.10) mmol/l v -0.08 (0.09) mmol/l) in the shipyard workers than in the controls. A correlation was found between scores for sleep disturbance and changes in serum cholesterol concentration. In the whole series there was a greater increase in serum cholesterol concentrations among men threatened with unemployment (437/976; 44.8%) than among those who were not. In stepwise regression analysis the change in serum cholesterol concentration was correlated with changes in haemoglobin concentration, body weight, and serum triglyceride and calcium concentrations. A positive correlation was found between change in cholesterol concentration and change in blood pressure, indicating that the overall risk profile had worsened among men with increased serum cholesterol concentrations. CONCLUSIONS--Risk of unemployment increases the serum cholesterol concentration in middle aged men, the increase being more pronounced in those with sleep disturbance. The increase in serum cholesterol is related to changes in other established risk factors for cardiovascular disease. These findings might partly explain the excessive mortality due to cardiovascular disease recorded among the unemployed and people with sleep disturbance.
Na+‐independent, nifedipine‐resistant rat afferent arteriolar Ca2+ responses to noradrenaline: possible role of TRPC channels

Aim: In rat afferent arterioles we investigated the role of Na+ entry in noradrenaline (NA)‐induced depolarization and voltage‐dependent Ca2+ entry together with the importance of the transient receptor potential channel (TRPC) subfamily for non‐voltage‐dependent Ca2+ entry.
A further evaluation of the clinical use of specific IgE antibody testing in allergic diseases

Background: The evaluation and interpretation of the results from blood tests measuring specific immunoglobulin E (IgE) antibody concentration is currently made using the dichotomized result from the test despite a quantitative result is obtained. It has been shown that different levels of IgE antibodies, assessed by blood test and skin prick test, may have a relation to presence of symptoms, implying that there is more information in a quantitative result than in the dichotomous – positive or negative.
Human IgG antibody response to Aedes aegypti Nterm‐34 kDa salivary peptide as an indicator to identify areas at high risk for dengue transmission: a retrospective study in urban settings of Vientiane city, Lao PDR

Using human IgG antibody response to the Aedes Nterm‐34 kDa salivary peptide as an indicator of human exposure to Aedes bites in surveying exposed populations from areas at risk of dengue virus (DENV) transmission in urban settings of Vientiane city, Lao PDR.
Fundamental Limits and Tradeoffs in Autocatalytic Pathways

This paper develops some basic principles to study autocatalytic networks and exploit their structural properties in order to characterize their inherent fundamental limits and tradeoffs. In a dynamical system with autocatalytic structure, the system's output is necessary to catalyze its own production. Our study has been motivated by a simplified model of a glycolysis pathway. First, the properties of this class of pathways are investigated through a network model, which consists of a chain of enzymatically catalyzed intermediate reactions coupled with an autocatalytic component. We explicitly derive a hard limit on the minimum achievable $\mathcal L_2$-gain disturbance attenuation and a hard limit on its minimum required output energy. Then, we show how these resulting hard limits lead to some fundamental tradeoffs between transient and steady-state behavior of the network and its net production.
Computational Analysis of the Power Spectral Shifts and Widths Along Dye-Doped Polymer Optical Fibers

Polymer optical fibers doped with organic dyes can be used as efficient optical amplifiers and lasers in the visible region. We computationally analyze the spectral features of both their fluorescence and their amplified emission for different amounts of overlap between the emission and absorption spectra of the dyes employed. Representative cases are compared by calculating the respective evolutions along the doped fiber of the average wavelength, peak wavelength, and full-width at half-maximum of the output power obtained.
Protease IV, a Unique Extracellular Protease and Virulence Factor from Pseudomonas aeruginosa *

Comparisons of virulence between aPseudomonas parent strain and an isogenic mutant devoid of protease IV have demonstrated a significant role for this enzyme during infection. We have characterized purified Pseudomonas aeruginosa protease IV in terms of its biochemical and enzymatic properties, and found it to be a unique extracellular protease. The N-terminal decapeptide sequence of protease IV is not homologous with any published protein sequence. Protease IV has a molecular mass of 26 kDa, an isoelectric point of 8.70, and optimum enzymatic activity at pH 10.0 and 45 °C. Purified protease IV demonstrates activity for the carboxyl side of lysine-containing peptides and can digest a number of biologically important proteins, including immunoglobulin, complement components, fibrinogen, and plasminogen. Protease IV is not inhibited by thiol-, carboxyl-, or metalloproteinase inhibitors. The total loss of enzyme activity in the presence ofN-p-tosyl-l-chloromethyl ketone and the partial inhibition of enzyme activity by diisopropyl fluorophosphate or phenylmethylsulfonyl fluoride imply that protease IV is a serine protease. Inhibition by dithiothreitol and β-mercaptoethanol suggests that intramolecular disulfide bonds are essential for enzyme activity. The characteristics of this enzyme suggest that inhibitors of serine proteases could be developed into a medication designed to arrest tissue damage during Pseudomonas infection.