Miracle-dz/UniFAR-FTUs huggingface dataset:
Maternal attitudes to newborn screening for fragile X syndrome

Although fragile X syndrome (FXS) is the commonest cause of inherited intellectual disability the mean age of diagnosis in Australia is 5.5 years. Newborn screening for FXS can provide an early diagnosis, preventing the “diagnostic odyssey”, allowing access to early interventions, and providing reproductive information for parents. Parents of affected children support newborn screening, but few clinical studies have evaluated community attitudes. A pilot study in 2009–2010 was performed in a tertiary hospital to explore feasibility and maternal attitudes. FXS testing of male and female newborns was offered to mothers in addition to routine newborn screening. Mothers were provided with information about FXS, inheritance pattern, carrier status, and associated adult‐onset disorders. One thousand nine hundred seventy‐one of 2,094 mothers (94%) consented to testing of 2,000 newborns. 86% completed the attitudinal survey and 10% provided written comments. Almost all parents (99%) elected to be informed of both premutation and full mutation status and there was little concern about identification of carrier status or associated adult‐onset disorders. Most mothers (96%) were comfortable being approached in the postnatal period and supported testing because no extra blood test was required. Mothers considered an early diagnosis beneficial to help prepare for a child with additional needs (93%) and for reproductive planning (64%). Some were anxious about the potential test results (10%) and others felt their feelings towards their newborn may change if diagnosed with FXS (16%). High participation rates and maternal attitudes indicate a high level of maternal acceptance and voluntary support for newborn screening for FXS. © 2013 Wiley Periodicals, Inc.
Isolated Poly(3-Hydroxybutyrate) (PHB) Granules Are Complex Bacterial Organelles Catalyzing Formation of PHB from Acetyl Coenzyme A (CoA) and Degradation of PHB to Acetyl-CoA

ABSTRACT Poly(3-hydroxybutyrate) (PHB) granules isolated in native form (nPHB granules) from Ralstonia eutropha catalyzed formation of PHB from 14C-labeled acetyl coenzyme A (CoA) in the presence of NADPH and concomitantly released CoA, revealing that PHB biosynthetic proteins (acetoacetyl-CoA thiolase, acetoacetyl-CoA reductase, and PHB synthase) are present and active in isolated nPHB granules in vitro. nPHB granules also catalyzed thiolytic cleavage of PHB in the presence of added CoA, resulting in synthesis of 3-hydroxybutyryl-CoA (3HB-CoA) from PHB. Synthesis of 3HB-CoA was also shown by incubation of artificial (protein-free) PHB with CoA and PhaZa1, confirming that PhaZa1 is a PHB depolymerase catalyzing the thiolysis reaction. Acetyl-CoA was the major product detectable after incubation of nPHB granules in the presence of NAD+, indicating that downstream mobilizing enzyme activities were also present and active in isolated nPHB granules. We propose that intracellular concentrations of key metabolites (CoA, acetyl-CoA, 3HB-CoA, NAD+/NADH) determine whether a cell accumulates or degrades PHB. Since the degradation product of PHB is 3HB-CoA, the cells do not waste energy by synthesis and degradation of PHB. Thus, our results explain the frequent finding of simultaneous synthesis and breakdown of PHB.
30-Month-Olds Use the Distribution and Meaning of Adverbs to Interpret Novel Adjectives

Word learners are able to use the syntactic context of a word as one source of information to narrow down the space of possible meanings. We examine this bootstrapping process in the domain of adjectives, focusing on the acquisition of subcategories of Gradable Adjectives (GAs). We first show that robust patterns of adverbial modification in natural language sort GAs according to scalar structure: proportional modifiers (e.g., completely) tend to modify absolute maximum standard GAs (e.g., full), while intensifiers (e.g., very) tend to modify relative GAs (e.g., big). We then show in a word-learning experiment that 30-month-olds appear to be aware of such distributional differences and recruit them in word learning, assigning an interpretation to a novel adjective based on its modifier. We argue that children track both the range of adjectives modified by a given adverb and the range of adverbs modifying a given adjective, and use such surface-level information to classify new words according to possible pre-existing semantic representations.
Proinflammatory Cytokines in Prostate Cancer Development and Progression Promoted by High-Fat Diet

Background. We aimed to examine whether proinflammatory cytokines participated in prostate cancer (PCa) development and progression promoted by high-fat diet (HFD). Methods. TRAMP (transgenic adenocarcinoma mouse prostate) mice were randomly divided into two groups: normal diet group and HFD group. Mortality rate and tumor formation rate were examined. TRAMP mice were sacrificed and sampled on the 20th, 24th, and 28th week, respectively. Levels of proinflammatory cytokines, including IL-1α, IL-1β, IL-6, and TNF-α, were tested by FlowCytomix. Prostate tissue of TRAMP mice was used for histology study. Results. A total of 13 deaths of TRAMP mice were observed, among which 3 (8.33%) were from the normal diet group and 10 (27.78%) from the HFD group. The mortality rate of TRAMP mice from HFD group was significantly higher than that of normal diet group (P = 0.032). Tumor formation rate at 20th week of age of HFD group was significantly higher than that of normal diet group (P = 0.045). Proinflammatory cytokines levels, including IL-1α, IL-1β, IL-6, and TNF-α, were significantly higher in HFD TRAMP mice. Conclusions. HFD could promote TRAMP mouse PCa development and progression with elevated proinflammatory cytokines levels. Proinflammatory cytokines could contribute to PCa development and progression promoted by HFD.
OXIDATIVE MECHANISMS IN TOBACCO SMOKE-INDUCED EMPHYSEMA

Cigarette smoking is well established as the cause of the majority of cases of emphysema. However, the mechanisms by which exposure of the lung to smoke causes the destruction of the lung parenchyma are not known. Oxidation probably contributes to the progression of this disease in several different ways. Oxidants present in the smoke itself or those generated by inflammatory cells in response to the particulate phase of the smoke inactivate proteinase inhibitors, and the increased inflammatory cells produce and release additional proteinases. The expression and activity of metalloproteinases, which have recently been implicated in the pathogenesis of emphysema, are regulated by redox status. Finally, oxidative damage to structural proteins may potentiate their degradation by the increased proteolytic burden.
Further characterization of ferric—phytosiderophore transporters ZmYS1 and HvYS1 in maize and barley

Roots of some gramineous plants secrete phytosiderophores in response to iron deficiency and take up Fe as a ferric–phytosiderophore complex through the transporter YS1 (Yellow Stripe 1). Here, this transporter in maize (ZmYS1) and barley (HvYS1) was further characterized and compared in terms of expression pattern, diurnal change, and tissue-type specificity of localization. The expression of HvYS1 was specifically induced by Fe deficiency only in barley roots, and increased with the progress of Fe deficiency, whereas ZmYS1 was expressed in maize in the leaf blades and sheaths, crown, and seminal roots, but not in the hypocotyl. HvYS1 expression was not induced by any other metal deficiency. Furthermore, in maize leaf blades, the expression was higher in the young leaf blades showing severe chlorosis than in the old leaf blades showing no chlorosis. The expression of HvYS1 showed a distinct diurnal rhythm, reaching a maximum before the onset of phytosiderophore secretion. In contrast, ZmYS1 did not show such a rhythm in expression. Immunostaining showed that ZmYS1 was localized in the epidermal cells of both crown and lateral roots, with a polar localization at the distal side of the epidermal cells. In maize leaves, ZmYS1 was localized in mesophyll cells, but not epidermal cells. These differences in gene expression pattern and tissue-type specificity of localization suggest that HvYS1 is only involved in primary Fe acquisition by barley roots, whereas ZmYS1 is involved in both primary Fe acquisition and intracellular transport of iron and other metals in maize.
A Novel Binary Mixture of Helicoverpa armigera Single Nucleopolyhedrovirus Genotypic Variants Has Improved Insecticidal Characteristics for Control of Cotton Bollworms

ABSTRACT The genotypic diversity of two Spanish isolates of Helicoverpa armigera single nucleopolyhedrovirus (HearSNPV) was evaluated with the aim of identifying mixtures of genotypes with improved insecticidal characteristics for control of the cotton bollworm. Two genotypic variants, HearSP1A and HearSP1B, were cloned in vitro from the most pathogenic wild-type isolate of the Iberian Peninsula, HearSNPV-SP1 (HearSP1-wt). Similarly, six genotypic variants (HearLB1 to -6) were obtained by endpoint dilution from larvae collected from cotton crops in southern Spain that died from virus disease during laboratory rearing. Variants differed significantly in their insecticidal properties, pathogenicity, speed of kill, and occlusion body (OB) production (OBs/larva). HearSP1B was ∼3-fold more pathogenic than HearSP1-wt and the other variants. HearLB1, HearLB2, HeaLB5, and HearLB6 were the fastest-killing variants. Moreover, although highly virulent, HearLB1, HearLB4, and HearLB5 produced more OBs/larva than did the other variants. The co-occluded HearSP1B:LB6 mixture at a 1:1 proportion was 1.7- to 2.8-fold more pathogenic than any single variant and other mixtures tested and also killed larvae as fast as the most virulent genotypes. Serial passage resulted in modified proportions of the component variants of the HearSP1B:LB6 co-occluded mixture, suggesting that transmissibility could be further improved by this process. We conclude that the improved insecticidal phenotype of the HearSP1B:LB6 co-occluded mixture underlines the utility of the genotypic variant dissection and reassociation approach for the development of effective virus-based insecticides.
Journal of Neuroengineering and Rehabilitation Open Access Reaching within a Dynamic Virtual Environment

Background: Planning and execution of reaching requires a series of computational processes that involve localization of both the target and initial arm position, and the translation of this spatial information into appropriate motor commands that bring the hand to the target. We have investigated the effects of shifting the visual field on visuomotor control using a virtual visual environment in order to determine how changes in visuo-spatial relations alter motor planning during a reach.
Cognition in Males and Females with Autism: Similarities and Differences

The male bias in autism spectrum conditions (ASC) has led to females with ASC being under-researched. This lack of attention to females could hide variability due to sex that may explain some of the heterogeneity within ASC. In this study we investigate four key cognitive domains (mentalizing and emotion perception, executive function, perceptual attention to detail, and motor function) in ASC, to test for similarities and differences between males and females with and without ASC (n = 128 adults; n = 32 per group). In the mentalizing and facial emotion perception domain, males and females with ASC showed similar deficits compared to neurotypical controls. However, in attention to detail and dexterity involving executive function, although males with ASC showed poorer performance relative to neurotypical males, females with ASC performed comparably to neurotypical females. We conclude that performance in the social-cognitive domain is equally impaired in male and female adults with ASC. However, in specific non-social cognitive domains, performance within ASC depends on sex. This suggests that in specific domains, cognitive profiles in ASC are modulated by sex.
Prognostic factors and treatment outcomes in patients with non-ampullary small bowel adenocarcinoma

Abstract Small bowel adenocarcinoma (SBA) is a relatively rare malignancy in gastrointestinal tumors. In addition, the difficulty of early diagnosis, its poor prognosis compared to large bowel adenocarcinoma, and inadequate treatment experiences due to lack of prospective randomized trials make it necessary to explore the characteristics of the disease for early diagnosis and treatment. Patients diagnosed with primary malignant tumor of small intestine in West China Hospital of Sichuan University between January 2001 and 2013 were reviewed retrospectively. A total of 208 patients with SBA were selected and 160 patients with duodenal periampullary tumor were excluded. Forty-two cases of patients were finally enrolled for statistical analysis as 6 patients were lost of follow-up. The clinical characteristics, the response to treatment and their overall survival (OS) time were reviewed and analyzed. Of the 42 patients, 11 (26.2%) primary tumors were originated from duodenum, 29 (69.0%) from jejunum, and 2 (4.8%) from ileum. All patients (64.3% male; median age, 54.7 years) included in this study underwent primary resection of the tumor to confirm final diagnosis. Three-year survival rate is 21% and 5-year survival rate is 9%. Median OS were 24.2 months (95% CI: 4.0–72.0). The univariate predictors for prognosis of SBA were as follows: age (P = .021), severe intestinal symptoms at first diagnosis (P < .001), T4 of tumor stage (P = .011), tumor size (P = .004), relatively late clinical stage (P < .001), peritoneal metastasis (P < .001), and no chemotherapy (P = .011). The multivariate predictors for poor prognosis were age of more than 60 years old (P = .035), intestinal obstruction or perforation at first diagnosis (P = .026), relatively late clinical stage (P = .000), and no chemotherapy (P = .027). SBA was a relatively rare malignancy that was difficult for early diagnosis and treatment. Intestinal obstruction was the common clinical manifestation at first diagnosis, with a tendency of early peritoneal metastasis. Precaution of the disease in early phase, radical resection of the primary tumor while resectable, followed with in-time chemotherapy might improve prognosis and survival of patients with SBA.
The Clinical Utility of the Test of Playfulness

Occupational therapists' increased focus on play as an occupation has created a need for play assessments that reflect this perspective. This study examined the clinical utility of the recently developed Test of Playfulness (ToP) (Bundy, 1997a) when used with children with disabilities. Changes in the participant's views of the child, the therapy goals, and the intervention plans after using the ToP were explored. Fourteen paediatric occupational therapists assessed children using the ToP, completed a clinical utility questionnaire and attended a focus group. Participants found the ToP easy to administer and score, however some found interpreting the results difficult. The ToP highlights the interactions between the child, activity and environment, and illustrates the child's strengths in his/her role as a player. The results suggest the ToP is a useful tool for assessing playfulness. Additional education and research is needed to provide further direction for intervention and incorporation into practice.
Mitotic Illegitimate Recombination Is a Mechanism for Novel Changes in High-Molecular-Weight Glutenin Subunits in Wheat-Rye Hybrids

Wide hybrids can have novel traits or changed expression of a quantitative trait that their parents do not have. These phenomena have long been noticed, yet the mechanisms are poorly understood. High-molecular-weight glutenin subunits (HMW-GS) are seed storage proteins encoded by Glu-1 genes that only express in endosperm in wheat and its related species. Novel HMW-GS compositions have been observed in their hybrids. This research elucidated the molecular mechanisms by investigating the causative factors of novel HMW-GS changes in wheat-rye hybrids. HMW-GS compositions in the endosperm and their coding sequences in the leaves of F1 and F2 hybrids between wheat landrace Shinchunaga and rye landrace Qinling were investigated. Missing and/or additional novel HMW-GSs were observed in the endosperm of 0.5% of the 2078 F1 and 22% of 36 F2 hybrid seeds. The wildtype Glu-1Ax null allele was found to have 42 types of short repeat sequences of 3-60 bp long that appeared 2 to 100 times. It also has an in-frame stop codon in the central repetitive region. Analyzing cloned allele sequences of HMW-GS coding gene Glu-1 revealed that deletions involving the in-frame stop codon had happened, resulting in novel ∼1.8-kb Glu-1Ax alleles in some F1 and F2 plants. The cloned mutant Glu-1Ax alleles were expressed in Escherichia coli, and the HMW-GSs produced matched the novel HMW-GSs found in the hybrids. The differential changes between the endosperm and the plant of the same hybrids and the data of E. coli expression of the cloned deletion alleles both suggested that mitotic illegitimate recombination between two copies of a short repeat sequence had resulted in the deletions and thus the changed HMW-GS compositions. Our experiments have provided the first direct evidence to show that mitotic illegitimate recombination is a mechanism that produces novel phenotypes in wide hybrids.
Cherednik and Hecke algebras of varieties with a finite group action

This paper is an expanded and updated version of the preprint arXiv:math/0406499. It includes a more detailed description of the basics of the theory of Cherednik and Hecke algebras of varieties started in arXiv:math/0406499, as well as a new Section 4, which reviews the developments in this theory since 2004 with references to the relevant literature. Let $G$ be a finite group of linear transformations of a finite dimensional complex vector space $V$. To this data one can attach a family of algebras $H_{t,c}(V,G)$, parametrized by complex numbers $t$ and conjugation invariant functions $c$ on the set of complex reflections in $G$, which are called rational Cherednik algebras. These algebras have been studied for over 15 years and revealed a rich structure and deep connections with algebraic geometry, representation theory, and combinatorics. In this paper, we define global analogs of Cherednik algebras, attached to any smooth algebraic or analytic variety $X$ with a finite group $G$ of automorphisms. We show that many interesting properties of Cherednik algebras (such as the PBW theorem, universal deformation property, relation to Calogero-Moser spaces, action on quasiinvariants) still hold in the global case, and give several interesting examples. Then we define the KZ functor for global Cherednik algebras, and use it to define (in the case $\pi_2(X)\otimes \Bbb Q=0$) a flat deformation of the orbifold fundamental group of the orbifold $X/G$, which we call the Hecke algebra of $X/G$. This includes usual, affine, and double affine Hecke algebras for Weyl groups, Hecke algebras of complex reflection groups, as well as many new examples.
Reinforcement Learning through Asynchronous Advantage Actor-Critic on a GPU

We introduce a hybrid CPU/GPU version of the Asynchronous Advantage Actor-Critic (A3C) algorithm, currently the state-of-the-art method in reinforcement learning for various gaming tasks. We analyze its computational traits and concentrate on aspects critical to leveraging the GPU's computational power. We introduce a system of queues and a dynamic scheduling strategy, potentially helpful for other asynchronous algorithms as well. Our hybrid CPU/GPU version of A3C, based on TensorFlow, achieves a significant speed up compared to a CPU implementation; we make it publicly available to other researchers at this https URL .
Leakage-Resilient Cryptography

We construct a stream-cipher S whose implementation is secure even if a bounded amount of arbitrary (adversarially chosen) information on the internal state ofS is leaked during computation. This captures all possible side-channel attacks on S where the amount of information leaked in a given period is bounded, but overall can be arbitrary large. The only other assumption we make on the implementation of S is that only data that is accessed during computation leaks information. The stream-cipher S generates its output in chunks K1, K2, . and arbitrary but bounded information leakage is modeled by allowing the adversary to adaptively chose a function fl : {0,1}* rarr {0, 1}lambda before Kl is computed, she then gets fl(taul) where taul is the internal state ofS that is accessed during the computation of Kg. One notion of security we prove for S is that Kg is indistinguishable from random when given K1,. , K1-1,f1(tau1 ),. , fl-1(taul-1) and also the complete internal state of S after Kg has been computed (i.e. S is forward-secure). The construction is based on alternating extraction (used in the intrusion-resilient secret-sharing scheme from FOCS'07). We move this concept to the computational setting by proving a lemma that states that the output of any PRG has high HILLpseudoentropy (i.e. is indistinguishable from some distribution with high min-entropy) even if arbitrary information about the seed is leaked. The amount of leakage lambda that we can tolerate in each step depends on the strength of the underlying PRG, it is at least logarithmic, but can be as large as a constant fraction of the internal state of S if the PRG is exponentially hard.
Správa o zdravotnom stave sveta 2000: postavenie Slovenskej republiky

Ginter E: World Health Report 2000: the Position of Slovak Republic Bratisl Lek Listy 2000; 101 (9): 477483 The World Health Organization (WHO) published the analysis of the health systems in 191 member states of WHO with important data (mostly for the year 1999) on probability of dying under age 5 years and between ages 15 and 59 years, life expectancy at birth, disability-adjusted life expectancy  DALE which is defined as the expectation of life lived in equivalent full health, responsiveness of health system, fairness of financial contribution and overall health system attainment. The last parameter was based on five weighted components: overall level of population health, health inequalities within the population, level of health system responsiveness, distribution of responsiveness between population and the distribution of health system financial burden within the population. Between 149 countries with more than 1 million inhabitants the rank for Slovakia (30th) is not bad and is close to Croatia and Poland. The estimates of overall health system performance (i.e. how efficiently health systems translate financial expenditure into health) belong to the problematic part of the report:. In this parameter the health system of USA ranks much lower than Turkey or Tunisia and Slovakia ranks lower than Albania. The authors did not take into consideration, that the health of population depends not only on health care and health expenditure but on many other factors, such as life style, nutrition, pollution, etc., which are not influenced by expenditure into health system. (Tab. 2, Fig. 6, Ref. 15.)