Miracle-dz/UniFAR-FTUs huggingface dataset:
Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion

Alterations of the Fragile Mental Retardation 2 gene (FMR2, synonym AFF2) can result in non‐specific, mild to borderline X‐linked intellectual disability (XLID), and behavioral problems. The well‐known molecular pathomechanism of this condition, also referred to as FRAXE, is a (CCG)n trinucleotide repeat expansion which leads to silencing of the FMR2 gene. However, deletions within the FMR2 gene may also be causative of the disorder. Here, we report on two brothers diagnosed with FRAXE in whom a small deletion in the FMR2 gene was detected by whole genome array comparative genomic hybridization (CGH). The deletion was also present in their clinically healthy mother and maternal uncle who was similarly affected, but not in a healthy older brother of the two patients. Our observation demonstrates that FMR2 gene deletions may contribute to the FRAXE phenotype. Therefore, we suggest that screening for FMR2 gene deletions using array CGH should be considered in patients with non‐specific XLID and absent trinucleotide expansion. © 2011 Wiley‐Liss, Inc.
The female fish is more responsive: gender moderates the BFLPE in the domain of science

Academic self-concept is positively related to individual achievement but negatively related to class- or school-average achievement: the big-fish–little-pond effect (BFLPE). This contrast effect results from social comparison processes. The BFLPE is known to be long-lasting, universal and robust. However, there is little evidence regarding its generalisability across genders. Females, as opposed to males, feel more attached to their peers and compare themselves more often. Thus, it was hypothesised that the BFLPE is larger for females. This was investigated with a focus on science self-concept in a German sample from an extension of the Programme for International Student Assessment 2006 study (N = 35,015) using recent advances in multilevel modelling. Replicating previous findings, females reported lower self-concepts while controlling for achievement. Additionally, the BFLPE was replicated. However, its effect size was substantially larger for females (−.41) compared to males (−.30). The implications of the results are discussed in light of women’s persisting underrepresentation in science, technology, engineering and mathematics fields.
Race, space and fear: imagined geographies of racism, crime, violence and disorder in Northern England

This paper describes and analyses the wider mechanisms, processes and contexts of the riots that took place in Northern UK cities and towns in the Summer of 2001. It examines these events and the imagined fears that aided the hardening of boundaries between violently opposed groups. It is noted that a long-term entrenchment of various forms of racial discrimination and racist violence in Oldham, Bradford and Burnley areas was connected to the long-term economic decline of the textile industry. Localised deindustrialisation, it is argued, generated a community discourse of nostalgia and cultural decline that was articulated via twin motors of race and ethnicity. As a result geographical concentrations of fear, risk and insecurity aided the likelihood and intensity of racist violence and disorder.
Autonomous Sweet Pepper Harvesting for Protected Cropping Systems

In this letter, we present a new robotic harvester (Harvey) that can autonomously harvest sweet pepper in protected cropping environments. Our approach combines effective vision algorithms with a novel end-effector design to enable successful harvesting of sweet peppers. Initial field trials in protected cropping environments, with two cultivar, demonstrate the efficacy of this approach achieving a 46% success rate for unmodified crop, and 58% for modified crop. Furthermore, for the more favourable cultivar we were also able to detach 90% of sweet peppers, indicating that improvements in the grasping success rate would result in greatly improved harvesting performance.
Suppression of defective ribosome assembly in a rbfA deletion mutant by overexpression of Era, an essential GTPase in Escherichia coli

Era is a small GTP‐binding protein and essential for cell growth in Escherichia coli. It consists of two domains: N‐terminal GTP‐binding and C‐terminal RNA‐binding KH domains. It has been shown to bind to 16S rRNAs and 30S ribosomal subunits in vitro. Here, we report that a precursor of 16S rRNA accumulates in Era‐depleted cells. The accumulation of the precursors is also seen in a cold‐sensitive mutant, E200K, in which the mutation site is located in the C‐terminal domain. The major precursor molecule accumulated seems to be 17S rRNA, containing extra sequences at both 5′ and 3′ ends of 16S rRNA. Moreover, the amounts of both 30S and 50S ribosomal subunits relative to the amount of 70S monosomes increase in Era‐depleted and E200K mutant cells. The C‐terminal KH domain has a high structural similarity to the RbfA protein, a cold shock protein that also specifically associates with 30S ribosomal subunits. RbfA is essential for cell growth at low temperature, and a precursor of 16S rRNA accumulates in an rbfA deletion strain. The 16S rRNA precursor seems to be identical in size to that accumulated in Era mutant cells. Surprisingly, the cold‐sensitive cell growth of the rbfA deletion cells was partially suppressed by overproduction of the wild‐type Era. The C‐terminal domain alone was not able to suppress the cold‐sensitive phenotype, whereas Era‐dE, which has a 10‐residue deletion in a putative effector region of the N‐terminal domain, functioned as a more efficient suppressor than the wild‐type Era. It was found that Era‐dE suppressed defective 16S rRNA maturation, resuming a normal polysome profile to reduce highly accumulated free 30S and 50S subunits in the rbfA deletion cells. These results indicate that Era is involved in 16S rRNA maturation and ribosome assembly.
Basic Principles and Practices of Structural Equation Modeling in Criminal Justice and Criminology Research

Structural equation modeling (SEM) has undergone rapid advances in recent years that have made this technique useful to social scientists studying a variety of topics. The hypothesis‐testing and model‐evaluation capacity of SEM makes this modeling strategy useful for research in criminal justice and criminology. The flexibility of this strategy and the availability of user‐friendly software programs add to the appeal of SEM. This article is a basic introduction to the use of SEM in criminal justice and criminology. An overview of SEM, popular computer programs, and the sequence of steps in building and evaluating models is provided with the intent of offering readers a general roadmap of the use of SEM. The article concludes with a list of recommended readings for those wishing to study this topic in detail.
Componentware-State of the Art 2003

Components and component-based technologies (componentware) are well-known and widely used in software development. There is a large amount of work and research in componentware. The number of available componentware approaches increases steadily and it is quite difficult to keep track of current trends in this area. In this paper, we survey the current state of the art in componentware, introduce and compare several well-known componentware approaches and classify them according to outstanding characteristics. We discuss a list of open issues in resarch and practical use of componentware and offer some proposals for further development. In our practical considerations we focus on embedded systems and business information systems because most of our partners in industry work in one of these two domains. We hope to start a broader discussion on componentware and to get a common understanding, which open issues are most important in research and industry (as a research agenda).
Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis

Background—The burden of subclinical atherosclerosis in asymptomatic individuals is heritable and associated with elevated risk of developing clinical coronary heart disease. We sought to identify genetic variants in protein-coding regions associated with subclinical atherosclerosis and the risk of subsequent coronary heart disease. Methods and Results—We studied a total of 25 109 European ancestry and African ancestry participants with coronary artery calcification (CAC) measured by cardiac computed tomography and 52 869 participants with common carotid intima–media thickness measured by ultrasonography within the CHARGE Consortium (Cohorts for Heart and Aging Research in Genomic Epidemiology). Participants were genotyped for 247 870 DNA sequence variants (231 539 in exons) across the genome. A meta-analysis of exome-wide association studies was performed across cohorts for CAC and carotid intima–media thickness. APOB p.Arg3527Gln was associated with 4-fold excess CAC (P=3×10−10). The APOE &egr;2 allele (p.Arg176Cys) was associated with both 22.3% reduced CAC (P=1×10−12) and 1.4% reduced carotid intima–media thickness (P=4×10−14) in carriers compared with noncarriers. In secondary analyses conditioning on low-density lipoprotein cholesterol concentration, the &egr;2 protective association with CAC, although attenuated, remained strongly significant. Additionally, the presence of &egr;2 was associated with reduced risk for coronary heart disease (odds ratio 0.77; P=1×10−11). Conclusions—Exome-wide association meta-analysis demonstrates that protein-coding variants in APOB and APOE associate with subclinical atherosclerosis. APOE &egr;2 represents the first significant association for multiple subclinical atherosclerosis traits across multiple ethnicities, as well as clinical coronary heart disease.
Incomplete acquisition and attrition of Spanish tense/aspect distinctions in adult bilinguals

This study investigates whether age of onset of bilingualism has an effect on ultimate attainment, and documents incomplete acquisition and attrition of tense/aspect morphology in Spanish. A group of 20 monolingual Spanish speakers, 31 US-born bilinguals, and 8 Latin America-born bilinguals participated in the study. Sixteen of the US-born participants were simultaneous bilinguals who had been exposed to Spanish and English from ages 0 to 3, the remaining 15 learned English between ages 4 to 7 (early child L2 learners), and the Latin-America-born bilinguals learned English between 8 and 12 years of age (late child L2 learners). Results of an oral production, a written completion, and two meaning-interpretation tasks showed that the simultaneous bilingual and the early child L2 groups differed significantly from monolingual Spanish speakers, while only a few individuals in the late child L2 group showed erosion with some aspects. Results suggest that morpho-phonological spell-outs and semantic features of functional categories are affected by incomplete acquisition and language loss, and that many of the patterns of divergence found resemble stages of second language acquisition.
Differences among sexually abused and nonabused women from functional and dysfunctional families

This study identified a previously unexamined group of sexual abuse survivors (those from functional families) and addressed methodological flaws in previous research by examining differences among abused women from functional families, abused women from dysfunctional families, nonabused women from dysfunctional families, and nonabused women from functional families. Measures of depression, anxiety, and interpersonal problems were completed by participants along with a measure of overall distress across a cluster of symptoms associated with childhood sexual abuse. On all four measures, the abused-dysfunctional group reported the highest level of psychological distress. Conversely, the level of psychological distress reported by the abused-functional group did not differ from that of the nonabused-functional or nonabused-dysfunctional groups. Research and counseling implications are discussed.
Health inequalities in Britain: continuing increases up to the end of the 20th century

Socioeconomic inequalities in premature mortality in Britain increased over the second half of the 20th century, particularly from the early 1970s onwards.1 The magnitude of mortality differentials reflects the trend in income inequality, which has also undergone a dramatic increase over the past quarter century.1 The present British government have emphasised their commitment to reducing health inequalities. For example the Minister of Health, Alan Milburn, has stated that “Our ambition is to do something that no government—Tory or Labour—has ever done. Not only to improve the health of the nation, but also to improve the health of the worst off at a faster rate”. 2 A set of targets for the reduction of health inequalities has been presented. To monitor progress in this regard we have produced updated analyses of premature mortality rates running through to the end of 1999. The mortality data are the Office for National Statistics digital records of all deaths in England and Wales, and equivalent records from the General Register Office (Scotland). The full postcode of the usual residence of the deceased was used to assign each death to the parliamentary constituency in which the deceased usually lived. The death data were provided for single years since 1990 and have been grouped into two year …
Molecular Mechanism for Stress-Induced Depression Assessed by Sequencing miRNA and mRNA in Medial Prefrontal Cortex

Background Major depression is a prevalent mood disorder. Chronic stress is presumably main etiology that leads to the neuron and synapse atrophies in the limbic system. However, the intermediate molecules from stresses to neuronal atrophy remain elusive, which we have studied in the medial prefrontal cortices from depression mice. Methods and Results The mice were treated by the chronic unpredictable mild stress (CUMS) until they expressed depression-like behaviors confirmed by the tests of sucrose preference, forced swimming and Y-maze. High-throughput sequencings of microRNA and mRNA in the medial prefrontal cortices were performed in CUMS-induced depression mice versus control mice to demonstrate the molecular profiles of major depression. In the medial prefrontal cortices of depression-like mice, the levels of mRNAs that translated the proteins for the GABAergic synapses, dopaminergic synapses, myelination, synaptic vesicle cycle and neuronal growth were downregulated. miRNAs of regulating these mRNAs are upregulated. Conclusion The deteriorations of GABAergic and dopaminergic synapses as well as axonal growth are associated with CUMS-induced depression.
In Vitro Activity of Daptomycin against Methicillin-Resistant Staphylococcus aureus, Including Heterogeneously Glycopeptide-Resistant Strains

ABSTRACT The purpose of the present study was to assess the in vitro activity of daptomycin against a well-defined collection of methicillin-resistant Staphylococcus aureus (MRSA) isolates (n = 98), including heterogeneously glycopeptide-resistant MRSA (hGISA) strains. Susceptibility testing was performed by using the Etest system. Daptomycin was potent against both glycopeptide-susceptible and hGISA strains.
Peptidergic control of gastrointestinal blood flow in the estuarine crocodile , Crocodylus porosus

Kågström, Jens, Catharina Olsson, Michael Axelsson, and Craig E. Franklin. Peptidergic control of gastrointestinal blood flow in the estuarine crocodile, Crocodylus porosus. Am. J. Physiol. 274 (Regulatory Integrative Comp. Physiol. 43): R1740–R1750, 1998. —Peptidergic mechanisms influencing the resistance of the gastrointestinal vascular bed of the estuarine crocodile, Crocodylus porosus, were investigated. The gut was perfused in situ via the mesenteric and the celiac arteries, and the effects of different neuropeptides were tested using bolus injections. Effects on vascular resistance were recorded as changes in inflow pressures. Peptides found in sensory neurons [substance P, neurokinin A, and calcitonin gene-related peptide (CGRP)] all caused significant relaxation of the celiac vascular bed, as did vasoactive intestinal polypeptide (VIP), another well-known vasodilator. Except for VIP, the peptides also induced transitory gut contractions. Somatostatin and neuropeptide Y (NPY), which coexist in adrenergic neurons of the C. porosus, induced vasoconstriction in the celiac vascular bed without affecting the gut motility. Galanin caused vasoconstriction and occasionally activated the gut wall. To elucidate direct effects on individual vessels, the different peptides were tested on isolated ring preparations of the mesenteric and celiac arteries. Only CGRP and VIP relaxed the epinephrine-precontracted celiac artery, whereas the effects on the mesenteric artery were variable. Somatostatin and NPY did not affect the resting tonus of these vessels, but somatostatin potentiated the epinephrine-induced contraction of the celiac artery. Immunohistochemistry revealed the existence and localization of the above-mentioned peptides in nerve fibers innervating vessels of different sizes in the gut region. These data support the hypothesis of an important role for neuropeptides in the control of the vascular bed of the gastrointestinal tract in C. porosus.
Influência da frequência estimulatória envolvida nos efeitos analgésicos induzidos por eletroacupuntura em cervicalgia tensional

OBJETIVO: Avaliar a influencia da frequencia estimulatoria envolvida na analgesia induzida por eletroacupuntura em cervicalgia. METODOS: Comparou-se o desempenho da analgesia produzida em 2Hz, 100Hz, 1000Hz, 2500Hz e um grupo so com acupuntura, sem estimulo eletrico, avaliado por meio de algometria de pressao, Escala Visual Analogica (EVA) e frequencia cardiaca. Utilizou-se um estimulador eletrico microprocessado, com forma de pulso em padrao pulsado, monofasico, retangular, balanceado assimetrico, com fase secundaria em exponencial decrescente, com periodo de estimulacao de 4 segundos e repouso de 3 segundos. A amostra contou com 66 voluntarios com cervicalgia tensional, idade media de 33,67±9,97 anos, 89,5% do genero feminino e 10,5% do masculino. RESULTADOS: Nao houve diferencas entre os grupos para as variaveis nota atribuida a dor pela EVA e frequencia cardiaca, sendo que em todos os grupos houve melhoras analgesicas. No entanto, quando comparado o comportamento antes-depois, por meio da algometria de pressao, para um mesmo individuo, dentro de seu proprio grupo, houve vantagens analgesicas para o uso de 2500Hz (p=0,006 para a base da regiao occiptal; p=0,003 para o trapezio direito; e p=0,013 para o trapezio esquerdo), seguido de 100Hz (p=0,035, p=0,016 e p=0,038, para as mesmas regioes, respectivamente). CONCLUSAO: Recomenda-se preferencialmente a aplicacao de 2500Hz e 100Hz em eletroacupuntura para analgesia em cervicalgia tensional.
The hidden costs of surveillance for performance and helping behaviour

Common sense and prior research into performance suggests that people will work harder and more productively when they are monitored. However, we predict that there are boundary conditions to this effect. High levels of surveillance may undermine aspects of people’s performance and their willingness to provide extra help, especially when they expect to share a sense of identity with those in power. In an experimental study (N = 98) we demonstrated that, compared to low surveillance, high surveillance led to higher productivity on a task, but also that the quality of work suffered. Additionally, we demonstrated that when surveillance was low, individuals offered more help to a leader they shared identity with, rather than to an outgroup leader. However, the beneficial effect of shared identity disappeared when surveillance was high. The results point to the rather paradoxical finding that surveillance, where it is not needed, can do more harm than good.
Orientation Tuning Depends on Spatial Frequency in Mouse Visual Cortex

Abstract The response properties of neurons to sensory stimuli have been used to identify their receptive fields and to functionally map sensory systems. In primary visual cortex, most neurons are selective to a particular orientation and spatial frequency of the visual stimulus. Using two-photon calcium imaging of neuronal populations from the primary visual cortex of mice, we have characterized the response properties of neurons to various orientations and spatial frequencies. Surprisingly, we found that the orientation selectivity of neurons actually depends on the spatial frequency of the stimulus. This dependence can be easily explained if one assumed spatially asymmetric Gabor-type receptive fields. We propose that receptive fields of neurons in layer 2/3 of visual cortex are indeed spatially asymmetric, and that this asymmetry could be used effectively by the visual system to encode natural scenes.
Application and Impact of the Psychopathy Label to Juveniles

With the development of new instruments that formally measure psychopathy in juveniles, questions regarding the negative associations with the psychopathy label have emerged. Using a vignette design, we examined whether the psychopathy label and several characteristic traits elicited punitive sanctions with regard to transfer to adult court, amenability to treatment, punishment, and dangerousness. Five groups were examined; undergraduate college students, law students, judges, clinicians, and developmental experts. We hypothesized that the traits and the label would result in negative associations, with the strongest effect resulting from the presence of both the psychopathy label and its associated traits. Results demonstrated: (1) undergraduate college students believed individuals were more dangerous when psychopathic traits were present; (2) clinicians were less likely to believe the youth was amenable to treatment if the label was present; (3) developmental experts focused on both the label and its corresponding traits in their decision making; and (4) no significant results emerged for either the law students or judges. The psychopathy label had some decision making impact on those familiar with the diagnosis but not with legal experts or undergraduate college students.
Recreation conflict perception among visitors to Tuen Mun Park, Hong Kong, China: outgroup evaluation, resource specificity, and lifestyle tolerance

Recreation conflict is a common problem in many outdoor recreation areas. In Hong Kong's Tuen Mun Park, the growing numbers of music performers has increased conflict among park users. This study adopts Jacob and Schreyer's (1980) model of recreation conflict to examine conflict perception among park users. Data were collected from an on-site survey of park users (n = 314) and a telephone survey of Tuen Mun New Town residents (n = 744). Jacob and Schreyer's model provides a partial explanation for differences in recreation conflict perceptions among user groups in the park. The findings confirm the hypothesis that frequent park users are more prone to experiencing conflict. Moreover, age and cultural background are the key factors influencing conflict perception. The findings suggest that efforts are needed to promote understanding and acceptance of the needs of other user groups in public spaces, which requires a thorough review of the current government policy on recreation space and facility development.